NM_000317.2(PTS):c.286G>A (p.Asp96Asn)

NM_198488.3(FAM83H):c.2029C>T (p.Gln677Ter)

NM_213606.3(SLC16A12):c.733C>T (p.Gln245Ter)

NM_006953.3(UPK3A):c.605G>A (p.Gly202Asp)

NM_000067.2(CA2):c.319C>T (p.His107Tyr)

NM_203447.3(DOCK8):c.1418A>G (p.Lys473Arg)

MFSD8, 2-BP DEL/2-BP INS

NM_139241.3(FGD4):c.823C>T (p.Arg275Ter)

NM_020223.3(FAM20C):c.1645C>T (p.Arg549Trp)

NM_015559.2(SETBP1):c.2609G>A (p.Gly870Asp)

NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter)

NM_001042702.3(DFNB59):c.499C>T (p.Arg167Ter)

NM_138959.2(VANGL1):c.715G>A (p.Val239Ile)

NM_017777.3(MKS1):c.417G>A (p.Glu139=)

COQ2, 1-BP DEL, 1198T

HMBS, 1-BP DEL, 41A

NM_000132.3(F8):c.1175C>A (p.Ser392Ter)

NM_000132.3(F8):c.5879G>T (p.Arg1960Leu)

NM_000166.5(GJB1):c.467T>G (p.Leu156Arg)

NM_000032.4(ALAS2):c.1354C>T (p.Arg452Cys)

NM_000133.3(F9):c.1240C>A (p.Pro414Thr)

NM_000133.3(F9):c.755G>C (p.Cys252Ser)

NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp)

GLA, 3-BP DEL, 1208AAG

NM_005765.2(ATP6AP2):c.321C>T (p.Asp107=)

AVPR2, 1-BP INS, 804G

NM_000546.5(TP53):c.725G>A (p.Cys242Tyr)

NM_001165963.1(SCN1A):c.2292T>C (p.Val764=)

NM_000545.6(HNF1A):c.1506_1507dupCT (p.Tyr503Serfs)

NM_000458.3(HNF1B):c.750C>T (p.Tyr250=)

NM_000551.3(VHL):c.464-117delT

NM_001098486.1(SLC17A3):c.202A>C (p.Asn68His)

NM_001025295.2(IFITM5):c.-14C>T

CDHR1, 1-BP DEL, 1459G

NM_005732.3(RAD50):c.3508G>A (p.Asp1170Asn)

NM_007294.3(BRCA1):c.1826A>G (p.Asn609Ser)

NM_007294.3(BRCA1):c.2679_2682delGAAA (p.Lys893Asnfs)

NM_007294.3(BRCA1):c.3683delA (p.His1228Profs)

NM_007294.3(BRCA1):c.4427dupA (p.Phe1477Valfs)

NM_007294.3(BRCA1):c.5177_5180delGAAA (p.Arg1726Lysfs)

NM_007294.3(BRCA1):c.81-13C>G

NM_000059.3(BRCA2):c.1705C>A (p.Gln569Lys)

NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn)

NM_000059.3(BRCA2):c.3794G>T (p.Cys1265Phe)

NM_000059.3(BRCA2):c.4594G>T (p.Val1532Phe)

NM_000059.3(BRCA2):c.5423T>C (p.Ile1808Thr)

NM_000059.3(BRCA2):c.6024dupG (p.Gln2009Alafs)

NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val)

NM_000059.3(BRCA2):c.7826G>C (p.Gly2609Ala)

NM_000059.3(BRCA2):c.8585dupT (p.Glu2863Argfs)

NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile)

NM_019032.5(ADAMTSL4):c.2270dupG (p.Gly758Trpfs)

NM_000059.3(BRCA2):c.5119A>G (p.Thr1707Ala)

NM_000059.3(BRCA2):c.521G>A (p.Arg174His)

NM_000059.3(BRCA2):c.5560_5561delGT (p.Val1854Phefs)

NM_000059.3(BRCA2):c.5763dupT (p.Ala1922Cysfs)

NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr)

NM_000059.3(BRCA2):c.6211A>C (p.Ser2071Arg)

NM_000059.3(BRCA2):c.6408_6414delAAATGTT (p.Asn2137Lysfs)

NM_000059.3(BRCA2):c.662_663delTT (p.Phe221Serfs)

NM_000059.3(BRCA2):c.68-9T>G

NM_000059.3(BRCA2):c.7007+5G>C

NM_000059.3(BRCA2):c.7224A>G (p.Pro2408=)

NM_000059.3(BRCA2):c.7481G>A (p.Arg2494Gln)

NM_000059.3(BRCA2):c.7707delT (p.Lys2570Argfs)

NM_000059.3(BRCA2):c.794-90A>G

NM_000059.3(BRCA2):c.8064_8065delCT (p.Val2690Phefs)

NM_000059.3(BRCA2):c.8308G>A (p.Ala2770Thr)

NM_000059.3(BRCA2):c.8458G>T (p.Val2820Leu)

NM_000059.3(BRCA2):c.8633-2A>T

NM_000059.3(BRCA2):c.8890dupA (p.Arg2964Lysfs)

NM_000059.3(BRCA2):c.9094_9097delAAAA (p.Lys3032Leufs)

NM_000059.3(BRCA2):c.9269dupT (p.Val3091Argfs)

NM_000059.3(BRCA2):c.9481A>T (p.Lys3161Ter)

NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg)

NM_000218.2(KCNQ1):c.1070A>G (p.Gln357Arg)

NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp)

NM_000218.2(KCNQ1):c.477+5G>C

NM_000218.2(KCNQ1):c.772C>A (p.His258Asn)

NM_007294.3(BRCA1):c.2594delA (p.Lys865Serfs)

NM_007294.3(BRCA1):c.2728C>T (p.Gln910Ter)

NM_007294.3(BRCA1):c.290_291delCA (p.Thr97Argfs)

NM_007294.3(BRCA1):c.3046A>G (p.Asn1016Asp)

NM_007294.3(BRCA1):c.3260G>C (p.Gly1087Ala)

NM_007294.3(BRCA1):c.3377C>T (p.Pro1126Leu)

NM_007294.3(BRCA1):c.3542T>C (p.Val1181Ala)

NM_007294.3(BRCA1):c.3698A>G (p.Lys1233Arg)

NM_007294.3(BRCA1):c.3817C>T (p.Gln1273Ter)

NM_007294.3(BRCA1):c.3972delG (p.Met1324Ilefs)

NM_007294.3(BRCA1):c.4163_4166delAGAG (p.Gln1388Leufs)

NM_007294.3(BRCA1):c.431delA (p.Asn144Ilefs)

NM_007294.3(BRCA1):c.4504C>T (p.Pro1502Ser)

NM_007294.3(BRCA1):c.4712T>C (p.Phe1571Ser)

NM_007294.3(BRCA1):c.4933A>G (p.Arg1645Gly)

NM_007294.3(BRCA1):c.5066T>C (p.Met1689Thr)

NM_007294.3(BRCA1):c.5148T>G (p.Tyr1716Ter)

NM_007294.3(BRCA1):c.5229_5230delAA (p.Arg1744Lysfs)

NM_007294.3(BRCA1):c.5318C>T (p.Thr1773Ile)

NM_007294.3(BRCA1):c.5423T>C (p.Val1808Ala)

NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter)

NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg)

NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser)

NM_007294.3(BRCA1):c.995G>A (p.Arg332Gln)

NM_001376.4(DYNC1H1):c.10151G>A (p.Arg3384Gln)

NM_006494.3(ERF):c.1270C>T (p.Gln424Ter)

NM_000111.2(SLC26A3):c.1624_1626delTCTinsC (p.Ser542Profs)

NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs)

NM_017890.4(VPS13B):c.8697-2A>G

NM_030943.3(AMN):c.1253dupA (p.Leu419Alafs)

NM_001142519.2(FAM111A):c.1579C>A (p.Pro527Thr)

GRCh38/hg38 9p24.3(chr9:229198-381489)x3

GRCh38/hg38 5q13.2(chr5:70436365-71420835)x1

GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1

GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1

GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1

GRCh38/hg38 11p15.3(chr11:12147544-12638655)x3

GRCh38/hg38 11q25(chr11:134430682-134998513)x1

GRCh38/hg38 Xq28(chrX:154791149-154931411)x2

NP_000081.1:p.Gly195_Arg266del

NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser)

NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)

NM_001320371.1(ZNF582):c.1127G>A (p.Gly376Glu)

NM_000277.1(PAH):c.1066-14C>G

NM_000277.1(PAH):c.1200-8G>A

NM_000277.1(PAH):c.181A>G (p.Asn61Asp)

NM_000277.1(PAH):c.441+1G>A

NM_000277.1(PAH):c.523C>G (p.Pro175Ala)

NM_000277.1(PAH):c.650G>A (p.Cys217Tyr)

NM_000277.1(PAH):c.754C>G (p.Arg252Gly)

NM_000277.1(PAH):c.845A>G (p.Asp282Gly)

NM_000277.1(PAH):c.991T>C (p.Phe331Leu)

NM_134444.4(NLRP4):c.*283T>C

NM_001033053.2(NLRP1):c.448+292C>T

NM_001199138.1(NLRC4):c.2782+81C>T

NM_024618.3(NLRX1):c.1484C>T (p.Pro495Leu)

NM_032206.4(NLRC5):c.356-88G>A

NM_138329.2(NLRP6):c.1940A>G (p.Gln647Arg)

NM_153447.4(NLRP5):c.2447+122A>G

NM_176811.2(NLRP8):c.850C>A (p.Leu284Ile)

NM_000416.2(IFNGR1):c.1027G>A (p.Val343Met)

NM_005534.3(IFNGR2):c.780G>T (p.Ser260=)

NM_001955.4(EDN1):c.249T>G (p.Tyr83Ter)

NM_000277.1(PAH):c.183C>A (p.Asn61Lys)

NM_004996.3(ABCC1):c.1678-34G>A

NM_007294.3(BRCA1):c.-11A>C

NM_007294.3(BRCA1):c.2355dupA (p.Leu786Thrfs)

NM_014832.4(TBC1D4):c.1087C>T (p.Arg363Ter)

NM_001017975.4(HFM1):c.2651T>G (p.Ile884Ser)

NM_019851.2(FGF20):c.337delG (p.Val113Trpfs)

NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter)

NM_024675.3(PALB2):c.212-25_212-24insAT

NM_024675.3(PALB2):c.2834+12C>T

NM_024675.3(PALB2):c.3350+11A>G

NM_000321.2(RB1):c.1738G>T (p.Glu580Ter)

NM_000321.2(RB1):c.1363C>T (p.Arg455Ter)

NM_000179.2(MSH6):c.1621A>C (p.Ser541Arg)

NM_001127464.2(ZNF469):c.7847G>A (p.Arg2616Gln)

NM_005732.3(RAD50):c.494C>A (p.Pro165His)

NM_134424.3(RAD52):c.*325C>G

NM_001080517.2(SETD5):c.2177_2178delCA (p.Thr726Asnfs)

NM_001101.3(ACTB):c.586C>A (p.Arg196Ser)

NM_207036.1(TCF12):c.1000_1001delCA (p.Gln334Aspfs)

NM_000038.5(APC):c.7570A>G (p.Lys2524Glu)

NM_000051.3(ATM):c.334G>A (p.Ala112Thr)

NM_000051.3(ATM):c.6160G>T (p.Ala2054Ser)

NM_000051.3(ATM):c.998C>T (p.Ser333Phe)

NM_000075.3(CDK4):c.862C>G (p.Arg288Gly)

NM_000179.2(MSH6):c.242C>T (p.Ala81Val)

NM_000249.3(MLH1):c.2239C>T (p.Pro747Ser)

NM_000314.6(PTEN):c.-856C>G

NM_000465.3(BARD1):c.2123A>G (p.Lys708Arg)

NM_000535.6(PMS2):c.2386G>A (p.Val796Ile)

GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1

GRCh38/hg38 22q13.33(chr22:50685063-50739836)x1

GRCh38/hg38 20p12.1(chr20:12776078-13349316)x1

GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1

GRCh38/hg38 14q32.33(chr14:106450995-106714110)x3

GRCh38/hg38 4p16.3(chr4:72555-2108607)x1

NM_030777.3(SLC2A10):c.730_733delCTAA (p.Leu244Glnfs)

NM_152296.4(ATP1A3):c.1250T>C (p.Leu417Pro)

NM_000138.4(FBN1):c.7379A>G (p.Lys2460Arg)

NM_000666.2(ACY1):c.1001_1001+5delTGTGAG

NM_002887.3(RARS):c.45+1G>T

NM_016247.3(IMPG2):c.3230G>T (p.Cys1077Phe)

NM_006701.4(TXNL4A):c.131delT (p.Val44Alafs)

NM_170707.3(LMNA):c.1699_1968del270 (p.Gly567_Gln656del)

NM_000113.2(TOR1A):c.863G>A (p.Arg288Gln)

NM_006731.2(FKTN):c.-99delT

NM_006726.4(LRBA):c.2032C>T (p.Gln678Ter)

NM_001232.3(CASQ2):c.479G>A (p.Arg160His)

NM_001035.2(RYR2):c.11039+13G>T

NM_004700.3(KCNQ4):c.1162C>T (p.Arg388Trp)

NM_144573.3(NEXN):c.-10T>C

NM_170707.3(LMNA):c.497G>A (p.Arg166Gln)

NM_133378.4(TTN):c.85618A>G (p.Ile28540Val)

NM_133378.4(TTN):c.84027C>T (p.Asp28009=)

NM_133378.4(TTN):c.99032C>T (p.Ser33011Leu)

NM_001256850.1(TTN):c.57107T>C (p.Ile19036Thr)

NM_133378.4(TTN):c.66039C>A (p.Asp22013Glu)

NM_133378.4(TTN):c.85663G>A (p.Val28555Ile)

NM_133378.4(TTN):c.31471C>T (p.Pro10491Ser)

NM_133378.4(TTN):c.31910-9C>A

NM_032383.4(HPS3):c.1494G>A (p.Gln498=)

NM_016599.4(MYOZ2):c.190A>C (p.Arg64=)

NC_000005.10:g.(?_112754891)_(112844071_?)del

NM_001277115.1(DNAH11):c.11325G>A (p.Ala3775=)

NM_004403.2(DFNA5):c.1416G>A (p.Lys472=)

NM_004415.3(DSP):c.5554C>T (p.Arg1852Cys)

NM_005219.4(DIAPH1):c.402+12delG

NM_032119.3(ADGRV1):c.18625-7T=

NM_000238.3(KCNH2):c.2758C>G (p.Arg920Gly)

NM_000238.3(KCNH2):c.1742C>A (p.Ser581Ter)

NM_000238.3(KCNH2):c.1150dupG (p.Val384Glyfs)

NM_000238.3(KCNH2):c.1096C>T (p.Arg366Ter)

NM_000218.2(KCNQ1):c.965C>G (p.Thr322Arg)

NM_000218.2(KCNQ1):c.1446delC (p.Asn483Thrfs)

NM_000138.4(FBN1):c.1297_1300dupGAAT (p.Tyr434Terfs)

NM_001134363.2(RBM20):c.2501dupA (p.Asp834Glufs)

NM_006393.2(NEBL):c.1225G>A (p.Glu409Lys)

NM_007078.2(LDB3):c.1594G>C (p.Ala532Pro)

NM_001885.2(CRYAB):c.16C>T (p.His6Tyr)

NM_004572.3(PKP2):c.1664delT (p.Phe555Serfs)

NM_004572.3(PKP2):c.387G>A (p.Gln129=)

NM_020433.4(JPH2):c.661T>C (p.Phe221Leu)

NM_004006.2(DMD):c.9299A>G (p.Asn3100Ser)

NM_002977.3(SCN9A):c.2690G>A (p.Trp897Ter)

NC_000023.10:g.(?_7050418)_(7247772_?)dup

NM_001256850.1(TTN):c.99616T>C (p.Tyr33206His)

NM_001256850.1(TTN):c.93029A>C (p.Asn31010Thr)

NM_001256850.1(TTN):c.86517G>C (p.Gln28839His)

NM_001256850.1(TTN):c.81574_81575delGC (p.Ala27192Cysfs)

NM_001256850.1(TTN):c.79974G>A (p.Trp26658Ter)

NM_001256850.1(TTN):c.73932_73935delTAGA (p.Arg24645Glnfs)

NM_001256850.1(TTN):c.73097T>C (p.Met24366Thr)

NM_001256850.1(TTN):c.66701C>A (p.Thr22234Asn)

NM_005732.3(RAD50):c.1000_1002delAAA (p.Lys334del)

NM_000535.6(PMS2):c.282G>A (p.Glu94=)

NM_000077.4(CDKN2A):c.458-4G>C

NM_020975.4(RET):c.45G>A (p.Leu15=)

NM_004329.2(BMPR1A):c.*2G>A

NM_000051.3(ATM):c.1662G>A (p.Thr554=)

NM_000051.3(ATM):c.4713T>C (p.Phe1571=)

NM_000051.3(ATM):c.6023T>C (p.Ile2008Thr)

NM_000051.3(ATM):c.6968G>T (p.Cys2323Phe)

NM_000059.3(BRCA2):c.670G>A (p.Asp224Asn)

NM_000059.3(BRCA2):c.10247A>C (p.Lys3416Thr)

NM_001042492.2(NF1):c.2658C>G (p.Asn886Lys)

NM_001042492.2(NF1):c.4402G>A (p.Val1468Met)

NM_001042492.2(NF1):c.7922A>T (p.Glu2641Val)

NM_007294.3(BRCA1):c.3440C>A (p.Ser1147Tyr)

NM_032043.2(BRIP1):c.918C>T (p.Asn306=)

NM_000546.5(TP53):c.537T>C (p.His179=)

NM_007194.3(CHEK2):c.809T>A (p.Val270Asp)

NM_000050.4(ASS1):c.766G>A (p.Glu256Lys)

NM_025137.3(SPG11):c.6759C>G (p.Asp2253Glu)

NM_020822.2(KCNT1):c.3383C>T (p.Ala1128Val)

NM_015697.7(COQ2):c.48dupC (p.Ala17Argfs)

NM_017780.3(CHD7):c.6955C>T (p.Arg2319Cys)

NM_000260.3(MYO7A):c.620A>G (p.Asn207Ser)

NM_000350.2(ABCA4):c.3377T>C (p.Leu1126Pro)

NM_004621.5(TRPC6):c.*86C>T

NM_018480.4(TMEM126B):c.635G>T (p.Gly212Val)

NM_198578.3(LRRK2):c.1829T>C (p.Ile610Thr)

NM_206933.2(USH2A):c.1558delT (p.Cys520Alafs)

NM_001030311.2(CERKL):c.1045_1046delAT (p.Met349Valfs)

NM_032119.3(ADGRV1):c.5504_5507delTTCC (p.Leu1835Glnfs)

NM_001035.2(RYR2):c.5374A>T (p.Ile1792Leu)

NM_022114.3(PRDM16):c.3621A>T (p.Glu1207Asp)

NM_015284.3(SZT2):c.2631C>T (p.Thr877=)

NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter)

NM_001267550.2(TTN):c.72528A>C (p.Glu24176Asp)

NM_001267550.2(TTN):c.47296A>T (p.Thr15766Ser)

NM_001267550.2(TTN):c.29729C>T (p.Thr9910Ile)

NM_152383.4(DIS3L2):c.424C>A (p.Pro142Thr)

NM_001743.5(CALM2):c.240A>T (p.Thr80=)

NM_002354.2(EPCAM):c.6G>T (p.Ala2=)

NM_000179.2(MSH6):c.185G>C (p.Arg62Pro)

NM_000179.2(MSH6):c.3762_3763delAGinsTT (p.Glu1254_Asp1255delinsAspTyr)

NM_015120.4(ALMS1):c.12222G>T (p.Gln4074His)

NM_033084.4(FANCD2):c.1414-9C>T

NM_000249.3(MLH1):c.81G>A (p.Arg27=)

NM_001148.4(ANK2):c.7105G>T (p.Val2369Phe)

NM_000222.2(KIT):c.1587C>T (p.Phe529=)

NM_000038.5(APC):c.3407A>C (p.Glu1136Ala)

NM_000038.5(APC):c.7136C>T (p.Thr2379Ile)

NM_001999.3(FBN2):c.6167-3C>A

NM_001369.2(DNAH5):c.8029C>T (p.Arg2677Ter)

NM_001206927.1(DNAH8):c.13468C>T (p.Arg4490Cys)

NM_000238.3(KCNH2):c.2901G>T (p.Pro967=)

NM_001277115.1(DNAH11):c.8969G>A (p.Arg2990His)

NM_001277115.1(DNAH11):c.10324C>T (p.Gln3442Ter)

NM_014855.2(AP5Z1):c.1003C>G (p.Leu335Val)

NM_032446.2(MEGF10):c.660-3C>T

NM_022455.4(NSD1):c.1237-37delT

NM_003900.4(SQSTM1):c.924G>A (p.Ala308=)

NM_001010892.2(RSPH4A):c.492G>A (p.Arg164=)

NM_000426.3(LAMA2):c.1207-28G>A

NM_033071.3(SYNE1):c.2119-29C>T

NM_004568.5(SERPINB6):c.730-14C>T

NM_000500.7(CYP21A2):c.822T>C (p.Ser274=)

NM_019105.6(TNXB):c.9635G>T (p.Gly3212Val)

NM_019105.6(TNXB):c.2373C>T (p.Ser791=)

NM_001851.4(COL9A1):c.1197+11T>C

NM_004370.5(COL12A1):c.5727C>T (p.Tyr1909=)

NM_000492.3(CFTR):c.2245C>T (p.Leu749=)

NM_004333.4(BRAF):c.504+17A>G

NM_017802.3(DNAAF5):c.1895T>C (p.Val632Ala)

NM_003235.4(TG):c.3001+10G>A

NM_001001557.3(GDF6):c.936G>C (p.Ser312=)

NM_020549.4(CHAT):c.1383-42G>C

NM_001083116.1(PRF1):c.435G>A (p.Val145=)

NM_014956.4(CEP164):c.2772C>G (p.Leu924=)

NM_001909.4(CTSD):c.828-17G>A

NM_022725.3(FANCF):c.-10C>T

NM_003737.3(DCHS1):c.5846C>T (p.Thr1949Met)

NM_002335.3(LRP5):c.3989C>T (p.Ala1330Val)

NM_024079.4(ALG8):c.478+35A>T

NM_020376.3(PNPLA2):c.1149G>A (p.Arg383=)

NM_001844.4(COL2A1):c.4317+43C>T

NM_000289.5(PFKM):c.1500+32C>T

NM_000020.2(ACVRL1):c.772+27G>C

NM_000552.4(VWF):c.7887+12T>C

NM_000552.4(VWF):c.1182A>C (p.Ser394=)

NM_025114.3(CEP290):c.2016A>G (p.Thr672=)

NM_000053.3(ATP7B):c.2146G>A (p.Val716Ile)

NM_021914.7(CFL2):c.15T>C (p.Val5=)

NM_020937.3(FANCM):c.1041G>A (p.Pro347=)

NM_002863.4(PYGL):c.2380-9T>C

NM_000428.2(LTBP2):c.956C>A (p.Pro319Gln)

NM_001040108.1(MLH3):c.2476A>G (p.Asn826Asp)

NM_002225.3(IVD):c.1074+41A>G

NM_000070.2(CAPN3):c.1668C>T (p.Ile556=)

NM_000259.3(MYO5A):c.3849+7G>A

NM_133378.4(TTN):c.10481G>A (p.Arg3494Gln)

NM_002354.2(EPCAM):c.-349G>T

NM_001039348.2(EFEMP1):c.-269G>A

NM_000384.2(APOB):c.12444C>A (p.Ala4148=)

NM_015040.3(PIKFYVE):c.4814T>G (p.Val1605Gly)

NM_000145.3(FSHR):c.-58T>C

NM_015040.3(PIKFYVE):c.*2693A>G

NM_002618.3(PEX13):c.*1724A>T

NM_032180.2(FAM161A):c.321A>G (p.Ile107Met)

NM_173076.2(ABCA12):c.6356T>G (p.Val2119Gly)

NM_033084.4(FANCD2):c.1874C>T (p.Pro625Leu)

NM_014014.4(SNRNP200):c.5418C>T (p.Asp1806=)

NM_020184.3(CNNM4):c.591C>T (p.Gly197=)

NM_001079.3(ZAP70):c.837+6T>C

NM_004637.5(RAB7A):c.*165A>T

NM_052985.3(IFT122):c.3405C>T (p.Ser1135=)

NM_024334.2(TMEM43):c.*262C>T

NM_000096.3(CP):c.1774C>T (p.Leu592Phe)

NM_000373.3(UMPS):c.*1520delA

NM_014049.4(ACAD9):c.*331T>G

NM_032446.2(MEGF10):c.755A>G (p.Glu252Gly)

NM_001999.3(FBN2):c.*671G>A

NM_032446.2(MEGF10):c.*1496T>C

NM_000358.2(TGFBI):c.1584G>A (p.Thr528=)

NM_014402.4(UQCRQ):c.*236C>G

NM_017415.2(KLHL3):c.770C>G (p.Ala257Gly)

NM_000493.3(COL10A1):c.*1042A>G

NM_001369.2(DNAH5):c.3315C>A (p.Asn1105Lys)

NM_002109.5(HARS):c.103G>A (p.Val35Met)

NM_054027.4(ANKH):c.*405G>A

NM_203395.2(IYD):c.-113T>G

NM_024577.3(SH3TC2):c.*16056C>T

NM_054027.4(ANKH):c.*2699G>C

NM_054027.4(ANKH):c.681G>A (p.Glu227=)

NM_024577.3(SH3TC2):c.*11542G>A

NM_033071.3(SYNE1):c.23530G>A (p.Asp7844Asn)

NM_024577.3(SH3TC2):c.*3079G>A

NM_024577.3(SH3TC2):c.*9233T>A

NM_004562.2(PRKN):c.522C>T (p.Leu174=)

NM_198586.2(NHLRC1):c.*336G>A

NM_148919.3(PSMB8):c.129T>C (p.Ala43=)

NM_001014.4(RPS10):c.408C>T (p.Ala136=)

NM_001145717.1(PNPLA1):c.953G>A (p.Gly318Glu)

NM_002098.5(GUCA1B):c.*488C>T

NM_000322.4(PRPH2):c.*276G>C

NM_006502.2(POLH):c.*371A>G

NM_003052.4(SLC34A1):c.*179G>A

NM_003900.4(SQSTM1):c.*987G>A

NM_017838.3(NHP2):c.-10G>T

NM_014324.5(AMACR):c.*1727G>T

NM_014244.4(ADAMTS2):c.*222C>T

NM_004172.4(SLC1A3):c.*174delG

NM_015713.4(RRM2B):c.*1601A>G

NM_178857.5(RP1L1):c.2157G>C (p.Leu719=)

NM_023073.3(C5orf42):c.7866C>T (p.Ser2622=)

NM_000514.3(GDNF):c.*2204G>T

NM_012193.3(FZD4):c.*3888G>A

NM_020975.4(RET):c.*446A>G

NM_019098.4(CNGB3):c.*735A>G

NM_002485.4(NBN):c.*522T>C

NM_000124.3(ERCC6):c.2741C>T (p.Thr914Met)

NM_001701.3(BAAT):c.*1218A>G

NM_001001557.3(GDF6):c.*2214C>T

NM_017890.4(VPS13B):c.3436C>G (p.Leu1146Val)

NM_002465.3(MYBPC1):c.-93C>T

NM_002465.3(MYBPC1):c.*144C>G

NM_024312.4(GNPTAB):c.2665T>C (p.Leu889=)

NM_000035.3(ALDOB):c.*69C>T

NM_022124.5(CDH23):c.1778A>C (p.Asn593Thr)

NM_003640.4(IKBKAP):c.3513T>C (p.Ser1171=)

NM_005502.3(ABCA1):c.688C>T (p.Arg230Cys)

NM_001079802.1(FKTN):c.*2505A>G

NM_012463.3(ATP6V0A2):c.*3425G>A

NM_002658.4(PLAU):c.1053C>T (p.Tyr351=)

NM_005592.3(MUSK):c.1102C>T (p.Pro368Ser)

NM_000031.5(ALAD):c.15C>T (p.Ser5=)

NM_018249.5(CDK5RAP2):c.4005-10A>G

NM_000429.2(MAT1A):c.*1092C>G

NM_139241.3(FGD4):c.993+8G>A

NM_016123.3(IRAK4):c.*989T>G

NM_000093.4(COL5A1):c.*235C>T

NM_003070.4(SMARCA2):c.483G>T (p.Pro161=)

NM_001025389.1(AMPD3):c.283G>A (p.Asp95Asn)

NM_000019.3(ACAT1):c.29G>A (p.Ser10Asn)

NM_000051.3(ATM):c.4235C>T (p.Pro1412Leu)

NM_000459.4(TEK):c.677C>T (p.Ala226Val)

NM_001256054.2(C9orf72):c.*577G>C

NM_001931.4(DLAT):c.-137G>A

NM_001558.3(IL10RA):c.670A>G (p.Ile224Val)

NM_175073.2(APTX):c.134-12A>C

NM_002451.3(MTAP):c.*2522A>G

NM_000155.3(GALT):c.-38G>A

NM_005476.5(GNE):c.*2847T>C

NM_004170.5(SLC1A1):c.582+6A>G

NM_000428.2(LTBP2):c.3176C>A (p.Ala1059Asp)

NM_022489.3(INF2):c.1865G>A (p.Arg622Gln)

NM_014339.6(IL17RA):c.551-9G>T

NM_004452.3(ESRRB):c.514+15C>T

NM_013382.5(POMT2):c.*927G>C

NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp)

NM_000347.5(SPTB):c.3780C>T (p.Asn1260=)

NM_000347.5(SPTB):c.26A>C (p.Asn9Thr)

NM_152443.2(RDH12):c.-152A>G

NM_015346.3(ZFYVE26):c.30T>G (p.Ala10=)

NM_000021.3(PSEN1):c.*2529G>T

NM_005589.3(ALDH6A1):c.112-11_112-8delGTTT

NM_006432.3(NPC2):c.*295C>G

NM_014239.3(EIF2B2):c.708G>A (p.Thr236=)

NM_001040108.1(MLH3):c.2167G>A (p.Val723Ile)

NM_006915.2(RP2):c.*958A>C

NM_000138.4(FBN1):c.*1706C>A

NM_153380.3(ZNF41):c.1398G>A (p.Pro466=)

NM_003179.2(SYP):c.*237G>A

NM_182758.3(WDR72):c.*96T>C

NM_006306.3(SMC1A):c.*2973C>T

NM_000236.2(LIPC):c.1098A>G (p.Thr366=)

NM_153252.4(BRWD3):c.*1895C>G

NM_004863.3(SPTLC2):c.-43C>T

NM_000334.4(SCN4A):c.*1916C>T

NM_003978.4(PSTPIP1):c.475G>C (p.Glu159Gln)

NM_000891.2(KCNJ2):c.*1794C>A

NM_001113378.1(FANCI):c.1294-8C>T

NM_004870.3(MPDU1):c.508-9C>T

NM_139057.3(ADAMTS17):c.*1448C>T

NM_024599.5(RHBDF2):c.28A>C (p.Ser10Arg)

NM_006640.4(SEPT9):c.*1900A>G

NM_000138.4(FBN1):c.4336+11G>A

NM_001256850.1(TTN):c.60049+1G>T

NM_002880.3(RAF1):c.1016G>A (p.Ser339Asn)

NM_145207.2(SPATA5):c.1073delT (p.Leu358Terfs)

NM_147127.4(EVC2):c.264C>A (p.Cys88Ter)

NM_025074.6(FRAS1):c.1306G>A (p.Asp436Asn)

NM_001332.3(CTNND2):c.470A>G (p.Gln157Arg)

NM_004387.3(NKX2-5):c.474G>T (p.Lys158Asn)

NM_014244.4(ADAMTS2):c.935A>G (p.Asn312Ser)

NM_024596.4(MCPH1):c.145C>G (p.His49Asp)

NM_020732.3(ARID1B):c.2371G>A (p.Gly791Ser)

NM_000138.4(FBN1):c.6164-2A>G

NM_002474.2(MYH11):c.5261C>T (p.Ala1754Val)

NM_002474.2(MYH11):c.3781G>A (p.Val1261Met)

NM_000267.3(NF1):c.4773-1G>A

NM_000018.3(ACADVL):c.1678+4A>T

NM_001127221.1(CACNA1A):c.55G>A (p.Ala19Thr)

NM_130445.3(COL18A1):c.3404C>T (p.Pro1135Leu)

NM_015629.3(PRPF31):c.527+1G>T

NM_004975.3(KCNB1):c.2411C>T (p.Thr804Ile)

NM_001396.3(DYRK1A):c.577_579delAAGinsTTCTT (p.Lys193Phefs)

NM_007075.3(WDR45):c.830+5G>A

NG_005905.2:g.110966_142550del

NG_005905.2:g.(?_92501)_(126550_126951)del

NM_001288705.1(CSF1R):c.647G>A (p.Arg216Gln)

NM_003995.3(NPR2):c.779A>T (p.Glu260Val)

NM_001164178.1(ENTPD1):c.61G>A (p.Val21Met)

NM_000363.4(TNNI3):c.194C>T (p.Ala65Val)

NM_004341.4(CAD):c.98T>G (p.Met33Arg)

NM_016011.3(MECR):c.855T>G (p.Tyr285Ter)

NM_000098.2(CPT2):c.921G>A (p.Met307Ile)

NM_000248.3(MITF):c.649A>G (p.Arg217Gly)

NM_139132.3(NUP98):c.4985A>G (p.Asn1662Ser)

NM_020247.4(COQ8A):c.1523T>C (p.Phe508Ser)

NM_133496.4(SLC30A7):c.490_491delCAinsAG (p.His164Ser)

NM_153427.2(PITX2):c.191C>T (p.Pro64Leu)

NM_173494.1(PIH1D3):c.355C>T (p.Gln119Ter)

NM_001197104.1(KMT2A):c.4696+1G>A

NM_016239.3(MYO15A):c.3932T>C (p.Ile1311Thr)

NM_015295.2(SMCHD1):c.404G>T (p.Ser135Ile)

NM_000527.4(LDLR):c.1571_1572delTG (p.Val524Glyfs)

NM_002524.4(NRAS):c.183A>C (p.Gln61His)

NM_000222.2(KIT):c.1961T>C (p.Val654Ala)

NM_001135659.2(NRXN1):c.-22C>A

NM_033109.4(PNPT1):c.1248-16T>C

NM_000251.2(MSH2):c.6G>C (p.Ala2=)

NM_001256850.1(TTN):c.4602C>T (p.Asn1534=)

NM_000251.2(MSH2):c.645+8A>T

NM_000251.2(MSH2):c.2343A>C (p.Ala781=)

NM_000179.2(MSH6):c.546C>T (p.Ala182=)

NM_183357.2(ADCY5):c.2000T>A (p.Ile667Asn)

NM_001875.4(CPS1):c.1116C>T (p.Phe372=)

NM_033109.4(PNPT1):c.423C>T (p.Leu141=)

NM_015120.4(ALMS1):c.825T>C (p.Ser275=)

NM_015120.4(ALMS1):c.1710A>G (p.Thr570=)

NM_000551.3(VHL):c.-40C>T

NM_032806.5(POMGNT2):c.-106+19T>C

NM_004393.5(DAG1):c.2610A>C (p.Thr870=)

NM_003280.2(TNNC1):c.317+9G>A

NM_000249.3(MLH1):c.884+12C>T

NM_000249.3(MLH1):c.573T>C (p.Ser191=)

NM_000249.3(MLH1):c.1815A>G (p.Glu605=)

NM_001148.4(ANK2):c.11436C>T (p.Leu3812=)

NM_006514.3(SCN10A):c.3805-12A>G

NM_001135659.2(NRXN1):c.963A>G (p.Gly321=)

NM_002618.3(PEX13):c.446C>G (p.Ala149Gly)

NM_000038.5(APC):c.4867A>C (p.Arg1623=)

NM_001148.4(ANK2):c.4371+6G>A

NM_147127.4(EVC2):c.2707-13A>T

NM_015697.7(COQ2):c.1194C>T (p.Val398=)

NM_000038.5(APC):c.4317T>A (p.Pro1439=)

NM_003106.3(SOX2):c.-31C>T

NM_000426.3(LAMA2):c.9211+17C>T

NM_002397.4(MEF2C):c.402+75G>T

NM_019105.6(TNXB):c.8519C>T (p.Pro2840Leu)

NM_001098511.2(KIF2A):c.1761-11T>C

NM_001458.4(FLNC):c.2389+4C>T

NM_000168.5(GLI3):c.2331C>T (p.His777=)

NM_006005.3(WFS1):c.1302C>T (p.Val434=)

NM_001458.4(FLNC):c.1797C>T (p.Thr599=)

NM_012079.5(DGAT1):c.1260C>G (p.Ser420Arg)

NM_001018116.2(CAVIN4):c.408+6C>A

NM_001130438.2(SPTAN1):c.117G>A (p.Lys39=)

NM_000535.6(PMS2):c.1376C>G (p.Ser459Ter)

NM_000445.4(PLEC):c.2037C>T (p.Thr679=)

NM_000535.6(PMS2):c.258A>G (p.Lys86=)

NM_006059.3(LAMC3):c.1940-10C>T

NM_020822.2(KCNT1):c.963G>A (p.Thr321=)

NM_003640.4(IKBKAP):c.-64G>A

NM_017780.3(CHD7):c.7332A>G (p.Leu2444=)

NM_001130438.2(SPTAN1):c.1593C>G (p.Thr531=)

NM_000368.4(TSC1):c.2898T>C (p.Tyr966=)

NM_000368.4(TSC1):c.2392-14G>A

NM_003165.3(STXBP1):c.902+18C>G

NM_004612.3(TGFBR1):c.35T>C (p.Leu12Pro)

NM_000540.2(RYR1):c.1201C>G (p.Arg401Gly)

NM_000540.2(RYR1):c.35_37delTCCinsCG (p.Phe12Serfs)

NM_000540.2(RYR1):c.7032G>C (p.Glu2344Asp)

NM_000540.2(RYR1):c.8541+37T>G

NM_133433.3(NIPBL):c.5378T>G (p.Met1793Arg)

NM_024408.3(NOTCH2):c.2479+34G>A

NM_000546.5(TP53):c.672+31A>G

NM_004304.4(ALK):c.3182G>A (p.Arg1061Gln)

NM_000038.5(APC):c.6958C>T (p.Pro2320Ser)

NM_207122.1(EXT2):c.1123A>G (p.Ser375Gly)

NM_000135.2(FANCA):c.3422C>A (p.Ala1141Asp)

NM_001018115.2(FANCD2):c.2567C>G (p.Thr856Ser)

NM_004629.1(FANCG):c.863G>T (p.Arg288Met)

NM_000143.3(FH):c.1303G>A (p.Val435Met)

NM_001145661.1(GATA2):c.787G>A (p.Gly263Arg)

NM_001282386.1(IDH1):c.565A>G (p.Ile189Val)

NM_000215.3(JAK3):c.1739C>T (p.Ser580Leu)

NM_002253.2(KDR):c.1151C>T (p.Thr384Met)

NM_003482.3(KMT2D):c.3180_3181delGGinsTT (p.Lys1060_Val1061delinsAsnLeu)

NM_003482.3(KMT2D):c.13220T>C (p.Val4407Ala)

NM_170606.2(KMT2C):c.8459A>G (p.Asn2820Ser)

NM_005373.2(MPL):c.209C>T (p.Pro70Leu)

NM_002485.4(NBN):c.520C>A (p.Pro174Thr)

NM_017617.4(NOTCH1):c.3211G>A (p.Gly1071Ser)

NM_024408.3(NOTCH2):c.4238T>A (p.Leu1413His)

NM_006206.4(PDGFRA):c.499G>A (p.Val167Met)

NM_001198.3(PRDM1):c.609C>G (p.Asp203Glu)

NM_004260.3(RECQL4):c.1652C>T (p.Ala551Val)

NM_020975.4(RET):c.2348A>C (p.Asn783Thr)

NM_014159.6(SETD2):c.7352C>T (p.Ala2451Val)

NM_005631.4(SMO):c.2060C>T (p.Pro687Leu)

NM_001127208.2(TET2):c.1088C>T (p.Pro363Leu)

NM_000546.5(TP53):c.638G>A (p.Arg213Gln)

NM_000377.2(WAS):c.995T>C (p.Val332Ala)

NM_000380.3(XPA):c.766A>G (p.Met256Val)

NM_015247.2(CYLD):c.2041+50C>A

NM_001127500.2(MET):c.1965+20A>G

NM_032147.4(USP44):c.213G>T (p.Glu71Asp)

NM_000038.5(APC):c.295C>T (p.Arg99Trp)

NM_000051.3(ATM):c.2805G>C (p.Thr935=)

NM_000059.3(BRCA2):c.5268A>G (p.Val1756=)

NM_000251.2(MSH2):c.1935A>C (p.Gln645His)

NM_000264.3(PTCH1):c.56G>T (p.Gly19Val)

NM_000551.3(VHL):c.280G>A (p.Glu94Lys)

NM_001166110.1(PALLD):c.437T>G (p.Leu146Arg)

NM_004360.4(CDH1):c.1224G>A (p.Ala408=)

NM_058216.2(RAD51C):c.408G>A (p.Met136Ile)

NM_020745.3(AARS2):c.2598+16G>T

NM_174917.4(ACSF3):c.49G>C (p.Ala17Pro)

NM_004208.3(AIFM1):c.918C>T (p.Ile306=)

NM_001182.4(ALDH7A1):c.774-19C>T

NM_002878.3(RAD51D):c.491T>C (p.Leu164Pro)

NM_002878.3(RAD51D):c.330dupT (p.Ser111Terfs)

NM_007294.3(BRCA1):c.5328C>T (p.Pro1776=)

NM_007294.3(BRCA1):c.4851T>C (p.Ala1617=)

NM_007294.3(BRCA1):c.1724A>G (p.Glu575Gly)

NM_032043.2(BRIP1):c.2028G>C (p.Val676=)

NM_032043.2(BRIP1):c.1734A>G (p.Lys578=)

NM_000546.5(TP53):c.696C>T (p.Ile232=)

NM_000546.5(TP53):c.511_515dupGAGGT (p.Val173Argfs)

NM_007194.3(CHEK2):c.580A>T (p.Ser194Cys)

NM_007194.3(CHEK2):c.32A>C (p.Gln11Pro)

NM_014795.3(ZEB2):c.2398dupT (p.Ser800Phefs)

NM_005957.4(MTHFR):c.769T>G (p.Phe257Val)

NM_004409.4(DMPK):c.*224_*226[194]

NM_004409.4(DMPK):c.*224_*226[448]

NM_004409.4(DMPK):c.*224_*226[82]

NM_000249.3(MLH1):c.1853A>T (p.Lys618Met)

NM_000038.5(APC):c.5573G>A (p.Arg1858Gln)

NM_001277115.1(DNAH11):c.5185C>T (p.Pro1729Ser)

NM_000264.3(PTCH1):c.4199G>A (p.Gly1400Asp)

NM_000075.3(CDK4):c.886C>T (p.His296Tyr)

NM_025137.3(SPG11):c.4687A>G (p.Arg1563Gly)

NM_032043.2(BRIP1):c.3374_3376delCAG (p.Ala1125del)

NM_004415.3(DSP):c.422+24G>A

NM_000256.3(MYBPC3):c.1625-27_1691del

NM_004572.3(PKP2):c.337-2A>T

NM_000257.3(MYH7):c.895+28A>C

NM_001110792.1(MECP2):c.1289_1492del204 (p.Met430_Val497del)

NM_001110792.1(MECP2):c.942_1174del233insAC (p.Ile315_Val392delinsLeu)

NM_003673.3(TCAP):c.208C>T (p.Arg70Trp)

NM_001288953.1(TTC7A):c.109G>A (p.Glu37Lys)

NM_001018116.2(CAVIN4):c.868A>C (p.Arg290=)

NM_014908.3(DOLK):c.1035A>G (p.Val345=)

NM_138691.2(TMC1):c.1566+8C>T

NM_022124.5(CDH23):c.5442C>T (p.Ile1814=)

NM_001277269.1(OTOG):c.1060C>T (p.Leu354=)

NM_005343.3(HRAS):c.468C>T (p.Phe156=)

NM_004316.3(ASCL1):c.184_186delCAG (p.Gln62del)

NM_005379.3(MYO1A):c.48G>T (p.Leu16=)

NM_173591.3(OTOGL):c.1084C>T (p.His362Tyr)

NM_152594.2(SPRED1):c.1110C>G (p.Leu370=)

NM_000138.4(FBN1):c.1714+2delT

NM_001130089.1(KARS):c.1163-7C>T

NM_144612.6(LOXHD1):c.6192G>A (p.Lys2064=)

NM_133261.2(GIPC3):c.315C>T (p.His105=)

NM_002473.5(MYH9):c.4023C>T (p.Phe1341=)

NM_001039141.2(TRIOBP):c.7032G>A (p.Glu2344=)

NM_001161529.1(CSF2RA):c.647-7G>A

NM_002290.4(LAMA4):c.392C>T (p.Pro131Leu)

NM_018136.4(ASPM):c.8043dupA (p.Arg2682Thrfs)

NM_000465.3(BARD1):c.889G>A (p.Val297Ile)

NM_000465.3(BARD1):c.400A>G (p.Asn134Asp)

NM_000251.2(MSH2):c.1076+4T>C

NM_000179.2(MSH6):c.675T>G (p.Ile225Met)

NM_000179.2(MSH6):c.1809G>A (p.Lys603=)

NM_000179.2(MSH6):c.2176T>C (p.Phe726Leu)

NM_000038.5(APC):c.1366C>T (p.Leu456Phe)

NM_002474.2(MYH11):c.3235G>T (p.Ala1079Ser)

NM_004006.2(DMD):c.5390T>C (p.Leu1797Pro)

NM_001242896.1(DEPDC5):c.492_496delTCGTT (p.Arg165TyrfsTer14)

NM_000059.3(BRCA2):c.425+457C>T

NM_007294.3(BRCA1):c.4186-591_4186-588dup

NM_007294.3(BRCA1):c.134+2993T>A

NM_020732.3(ARID1B):c.3263C>G (p.Ser1088Ter)

NM_017780.3(CHD7):c.7840delG (p.Asp2614Metfs)

NM_207122.1(EXT2):c.580G>T (p.Gly194Ter)

NM_015335.4(MED13L):c.2590A>T (p.Met864Leu)

NM_007194.3(CHEK2):c.909-1G>T

NM_024818.4(UBA5):c.736C>T (p.Arg246Ter)

NM_000812.3(GABRB1):c.737T>C (p.Phe246Ser)

NM_174936.3(PCSK9):c.-73A>G

NM_003611.2(OFD1):c.147dupG (p.His50A1afs*26)

NM_014980.2(STXBP5L):c.3127G>A (p.Val1043Ile)

NM_001077418.2(TMEM231):c.665-11T>C

NM_000059.3(BRCA2):c.1587_1590delTAAA (p.Phe529Leufs)

NM_000059.3(BRCA2):c.2397delA (p.Gly800Valfs)

NM_000059.3(BRCA2):c.3303_3336dup34 (p.Glu1113Terfs)

NM_000059.3(BRCA2):c.4211C>G (p.Ser1404Ter)

NM_000059.3(BRCA2):c.5050_5065del16 (p.Thr1684Glnfs)

NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter)

NM_007294.3(BRCA1):c.5302delT (p.Cys1768Alafs)

NM_007294.3(BRCA1):c.4784delC (p.Ser1595Phefs)

NM_007294.3(BRCA1):c.3217_3218delGG (p.Gly1073Terfs)

NM_007294.3(BRCA1):c.2704delG (p.Glu902Asnfs)

NM_007294.3(BRCA1):c.2307_2313delTTCATTG (p.Ile769Metfs)

NM_007294.3(BRCA1):c.1878_1879insTAGT (p.Val627Terfs)

NM_007294.3(BRCA1):c.1210_1211insCT (p.Glu404Alafs)

NM_007294.3(BRCA1):c.953delA (p.His318Leufs)

NM_007294.3(BRCA1):c.411_414delTCTA (p.Leu138Argfs)

NM_007294.3(BRCA1):c.363_364delAG (p.Glu121Aspfs)

NM_000152.4(GAA):c.2253C>T (p.Leu751=)

NM_000214.2(JAG1):c.1218_1219insGA (p.Lys407Glufs)

NM_022437.2(ABCG8):c.1495G>A (p.Gly499Arg)

NM_015386.2(COG4):c.2288G>A (p.Arg763His)

NM_004369.3(COL6A3):c.2932G>A (p.Ala978Thr)

NM_004006.2(DMD):c.4345-8C>T

NM_033071.3(SYNE1):c.24089G>A (p.Arg8030His)

NM_001193315.1(VIPAS39):c.1221C>T (p.Phe407=)

NM_001918.3(DBT):c.*1064delA

NM_001918.3(DBT):c.*7187G>A

NM_001854.3(COL11A1):c.*105C>T

NM_001854.3(COL11A1):c.904A>G (p.Ile302Val)

NM_015074.3(KIF1B):c.*2840G>A

NM_004565.2(PEX14):c.993T>G (p.Asp331Glu)

NM_015074.3(KIF1B):c.*277_*280delCACA

NM_007375.3(TARDBP):c.-42C>T

NM_013319.2(UBIAD1):c.*675A>G

NM_006610.3(MASP2):c.1316G>A (p.Arg439His)

NM_005957.4(MTHFR):c.*2965C>A

NM_002524.4(NRAS):c.-242G>C

NM_000036.2(AMPD1):c.599G>A (p.Arg200Gln)

NM_003051.3(SLC16A1):c.*1312G>C

NM_005957.4(MTHFR):c.1761C>T (p.Ala587=)

NM_000396.3(CTSK):c.684C>T (p.Pro228=)

NM_000302.3(PLOD1):c.475G>A (p.Gly159Ser)

NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys)

NM_138959.2(VANGL1):c.*1042C>A

NM_152263.3(TPM3):c.*1032T>G

NM_001232.3(CASQ2):c.475G>A (p.Glu159Lys)

NM_138959.2(VANGL1):c.*5066C>G

NM_005572.3(LMNA):c.-62C>A

NM_152263.3(TPM3):c.*5572dupT

NM_001111.4(ADAR):c.772G>A (p.Gly258Arg)

NM_014874.3(MFN2):c.*121A>G

NM_213653.3(HFE2):c.1113C>T (p.Pro371=)

NM_019032.5(ADAMTSL4):c.1268G>A (p.Arg423Gln)

NM_005850.4(SF3B4):c.148A>G (p.Thr50Ala)

NM_000130.4(F5):c.2222A>G (p.Asn741Ser)

NM_001111.4(ADAR):c.*898G>A

NM_001012331.1(NTRK1):c.658C>T (p.Arg220Trp)

NM_022089.3(ATP13A2):c.3193G>A (p.Val1065Met)

NM_152281.2(GORAB):c.*803T>C

NM_000261.1(MYOC):c.239C>A (p.Thr80Asn)

NM_000433.3(NCF2):c.*262C>T

NM_031935.2(HMCN1):c.6075T>C (p.Val2025=)

NM_031935.2(HMCN1):c.10536T>C (p.Ala3512=)

NM_000069.2(CACNA1S):c.4243G>A (p.Gly1415Arg)

NM_003000.2(SDHB):c.-142A>G

NM_000069.2(CACNA1S):c.909T>C (p.Asp303=)

NM_001005337.2(PKP1):c.1325C>T (p.Ala442Val)

NM_033343.3(LHX4):c.998C>T (p.Thr333Met)

NM_002389.4(CD46):c.905C>T (p.Ser302Leu)

NM_002065.6(GLUL):c.*1033G>C

NM_014382.3(ATP2C1):c.-213C>A

NM_153240.4(NPHP3):c.*657C>T

NM_003571.3(BFSP2):c.*73C>T

NM_000532.4(PCCB):c.429+7G>A

NM_004628.4(XPC):c.2515A>G (p.Lys839Glu)

NM_031850.3(AGTR1):c.-329G>T

NM_006371.4(CRTAP):c.*2431G>A

NM_001106.3(ACVR2B):c.*1957T>G

NM_000179.2(MSH6):c.2722G>A (p.Glu908Lys)

NM_005025.4(SERPINI1):c.-391_-387dupGGAGC

NM_001135659.2(NRXN1):c.3652C>A (p.Leu1218Ile)

NM_024513.3(FYCO1):c.*2695_*2696insT

NM_024513.3(FYCO1):c.3413A>G (p.Glu1138Gly)

NM_015141.3(GPD1L):c.*1085G>T

NM_000316.2(PTH1R):c.*7G>A

NM_002222.5(ITPR1):c.*358_*359delTG

NM_001106.3(ACVR2B):c.*5569C>T

NM_000387.5(SLC25A20):c.-195A>C

NM_144499.2(GNAT1):c.876C>T (p.Tyr292=)

NM_017875.2(SLC25A38):c.*304C>T

NM_018075.4(ANO10):c.-90C>T

NM_016006.4(ABHD5):c.*1863G>A

NM_001298.2(CNGA3):c.*1240C>T

NM_016247.3(IMPG2):c.*740_*743delTATA

NM_002292.3(LAMB2):c.2154G>A (p.Leu718=)

NM_000388.3(CASR):c.*790T>C

NM_053025.3(MYLK):c.*76_*77insAC

NM_153281.1(HYAL1):c.-414G>A

NM_000373.3(UMPS):c.*3701C>T

NM_053025.3(MYLK):c.-153C>T

NM_032638.4(GATA2):c.*1144G>A

NM_025265.3(TSEN2):c.-173C>T

NM_001184.3(ATR):c.2653G>A (p.Val885Ile)

NM_032383.4(HPS3):c.2692C>T (p.Arg898Cys)

NM_000060.4(BTD):c.1485C>A (p.Ile495=)

NM_020800.2(IFT80):c.2014A>G (p.Ile672Val)

NM_002310.5(LIFR):c.*1854C>T

NM_001104631.1(PDE4D):c.*3754_*3755dupTT

NM_003235.4(TG):c.1802C>T (p.Thr601Met)

NM_000163.4(GHR):c.206C>T (p.Thr69Ile)

NM_002203.3(ITGA2):c.-99G>C

NM_003719.3(PDE8B):c.*64G>A

NM_001038603.2(MARVELD2):c.57C>T (p.Ser19=)

NM_005144.4(HR):c.*218T>C

NM_006158.4(NEFL):c.*1643G>A

NM_000742.3(CHRNA2):c.*1446A>G

NM_000165.4(GJA1):c.*214G>A

NM_000318.2(PEX2):c.*595C>T

NM_003764.3(STX11):c.*1254delG

NM_133468.4(BMPER):c.1935G>C (p.Thr645=)

NM_003630.2(PEX3):c.-197T>C

NM_005502.3(ABCA1):c.*1260C>G

NM_033071.3(SYNE1):c.14457G>C (p.Gln4819His)

NM_033071.3(SYNE1):c.6156T>G (p.Ile2052Met)

NM_203395.2(IYD):c.*1697G>A

NM_015404.3(WHRN):c.-499G>A

NM_001080.3(ALDH5A1):c.*1392C>A

NM_001710.5(CFB):c.291G>A (p.Glu97=)

NM_000367.4(TPMT):c.210C>T (p.Cys70=)

NM_001109809.2(ZFP57):c.475A>T (p.Thr159Ser)

NM_000089.3(COL1A2):c.1870C>G (p.Pro624Ala)

NM_006929.4(SKIV2L):c.774A>G (p.Glu258=)

NM_003322.5(TULP1):c.559C>T (p.Pro187Ser)

NM_005943.5(MOCS1):c.*1688_*1691dupAATC

NM_014780.4(CUL7):c.4690C>T (p.Arg1564Trp)

NM_005943.5(MOCS1):c.264G>A (p.Met88Ile)

NM_178857.5(RP1L1):c.488G>A (p.Arg163His)

NM_001715.2(BLK):c.-484G>A

NM_014112.4(TRPS1):c.*5386A>G

NM_000127.2(EXT1):c.-266C>T

NM_014846.3(WASHC5):c.2100G>A (p.Val700=)

NM_004519.3(KCNQ3):c.*6874C>G

NM_203447.3(DOCK8):c.*112T>C

NM_001497.3(B4GALT1):c.*286T>G

NM_022370.3(ROBO3):c.2048C>T (p.Pro683Leu)

NM_001042413.1(GLIS3):c.*3330G>A

NM_004560.3(ROR2):c.-154G>C

NM_001042413.1(GLIS3):c.*664dupA

NM_203447.3(DOCK8):c.4024-4C>T

NM_001127217.2(SMAD9):c.*2202delT

NM_001127217.2(SMAD9):c.1042G>A (p.Glu348Lys)

NM_014290.2(TDRD7):c.-83G>C

NM_207361.5(FREM2):c.1395G>A (p.Pro465=)

NM_004612.3(TGFBR1):c.*2833G>A

NM_017662.4(TRPM6):c.1207+6T>C

NM_033305.2(VPS13A):c.3340-5_3340-3delTTA

NM_000321.2(RB1):c.2521-11G>A

NM_000270.3(PNP):c.*799A>G

NM_033087.3(ALG2):c.934C>T (p.Leu312Phe)

NM_021926.3(ALX4):c.*524C>T

NM_000161.2(GCH1):c.*278C>T

NM_007374.2(SIX6):c.726C>T (p.Ser242=)

NM_002334.3(LRP4):c.1480C>T (p.Arg494Cys)

NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser)

NM_002032.2(FTH1):c.*222C>T

NM_015346.3(ZFYVE26):c.5798G>C (p.Ser1933Thr)

NM_032667.6(BSCL2):c.-182C>A

NM_031427.3(DNAL1):c.*1214G>A

NM_144585.3(SLC22A12):c.1145A>T (p.Gln382Leu)

NM_031427.3(DNAL1):c.*4208G>A

NM_014915.2(ANKRD26):c.*1433A>G

NM_021252.4(RAB18):c.*2744C>T

NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp)

NM_006946.2(SPTBN2):c.1281C>T (p.Ala427=)

NM_004863.3(SPTLC2):c.*4645A>G

NM_000242.2(MBL2):c.*2388T>G

NM_000153.3(GALC):c.*801A>T

NM_201590.2(CACNB2):c.*1229T>G

NM_007103.3(NDUFV1):c.-34T>A

NM_000417.2(IL2RA):c.367+7G>C

NM_018055.4(NODAL):c.221C>T (p.Thr74Met)

NM_018344.5(SLC29A3):c.385G>A (p.Val129Ile)

NM_021252.4(RAB18):c.-144T>A

NM_024698.5(SLC25A22):c.*453C>T

NM_004273.4(CHST3):c.348G>T (p.Glu116Asp)

NM_020376.3(PNPLA2):c.903C>T (p.Pro301=)

NM_002900.2(RBP3):c.2626G>T (p.Ala876Ser)

NM_000124.3(ERCC6):c.*1830T>C

NM_016065.3(MRPS16):c.*502G>A

NM_033056.3(PCDH15):c.*366G>A

NM_030962.3(SBF2):c.*1441C>T

NM_033064.4(ATCAY):c.568G>A (p.Ala190Thr)

NM_152296.4(ATP1A3):c.*280T>A

NM_014297.4(ETHE1):c.-52G>C

NM_000400.3(ERCC2):c.*171G>C

NM_025136.3(OPA3):c.*1950G>A

NM_001040114.1(MYH11):c.4138-80G>C

NM_002474.2(MYH11):c.2058+10G>A

NM_002103.4(GYS1):c.*659C>T

NM_017636.3(TRPM4):c.483C>T (p.Gly161=)

NM_004970.2(IGFALS):c.108C>T (p.Ala36=)

NM_024729.3(MYH14):c.5004+12C>T

NM_015087.4(SPG20):c.*1799G>A

NM_006087.3(TUBB4A):c.*804C>G

NM_173201.3(ATP2A1):c.188G>A (p.Arg63Gln)

NM_001770.5(CD19):c.*71C>T

NM_207361.5(FREM2):c.*992T>C

NM_020533.2(MCOLN1):c.984+13C>T

NM_014252.3(SLC25A15):c.*898C>T

NM_032575.2(GLIS2):c.1011G>A (p.Pro337=)

NM_000115.4(EDNRB):c.*2219A>G

NM_032609.2(COX4I2):c.167A>C (p.Glu56Ala)

NM_024589.2(ROGDI):c.-342C>A

NM_022162.2(NOD2):c.2463-9T>A

NM_005708.4(GPC6):c.1216A>G (p.Ile406Val)

NM_001043.3(SLC6A2):c.*306C>T

NM_031885.3(BBS2):c.327G>A (p.Ser109=)

NM_030777.3(SLC2A10):c.*2254delT

NM_000782.4(CYP24A1):c.259-5T>C

NM_001202.5(BMP4):c.*272A>G

NM_001853.3(COL9A3):c.1135G>A (p.Gly379Ser)

NM_207361.5(FREM2):c.5642-12T>C

NM_020686.5(ABAT):c.*574A>G

NM_207361.5(FREM2):c.*5155G>A

NM_001127464.2(ZNF469):c.6396C>T (p.Pro2132=)

NM_020751.2(COG6):c.1676A>T (p.Gln559Leu)

NM_002386.3(MC1R):c.*620G>T

NM_000053.3(ATP7B):c.*1708A>G

NM_177986.4(DSG4):c.-101T>A

NM_015559.2(SETBP1):c.*3833C>G

NM_001080467.2(MYO5B):c.*1967C>T

NM_001080467.2(MYO5B):c.4674C>G (p.His1558Gln)

NM_007137.3(ZNF81):c.*1050A>G

NM_000140.3(FECH):c.*936C>T

NM_033064.4(ATCAY):c.*2668G>A

NM_005570.3(LMAN1):c.*1332C>G

NM_030578.3(B9D2):c.-4-13T>C

NM_144687.3(NLRP12):c.*69C>A

NM_144687.3(NLRP12):c.136G>C (p.Gly46Arg)

NM_024075.4(TSEN34):c.*1046T>C

NM_001042472.2(ABHD12):c.*353G>A

NM_032034.3(SLC4A11):c.2499G>A (p.Thr833=)

NM_181882.2(PRX):c.4118G>A (p.Arg1373Gln)

NM_006892.3(DNMT3B):c.1996+9C>T

NM_181882.2(PRX):c.-236G>A

NM_005461.4(MAFB):c.*1520C>G

NM_007254.3(PNKP):c.-74G>A

NM_207034.2(EDN3):c.*143C>A

NM_015629.3(PRPF31):c.420+7G>A

NM_025219.2(DNAJC5):c.*1220G>A

NM_003283.5(TNNT1):c.-12+15G>A

NM_000208.3(INSR):c.*4602C>T

NM_000208.3(INSR):c.*2010G>A

NM_000211.4(ITGB2):c.432G>A (p.Arg144=)

NM_006657.2(FTCD):c.1202C>T (p.Ala401Val)

NM_000457.4(HNF4A):c.*155G>A

NM_014339.6(IL17RA):c.*434C>T

NM_000308.3(CTSA):c.847C>T (p.Arg283Cys)

NM_020436.4(SALL4):c.328G>A (p.Val110Met)

NM_016327.2(UPB1):c.-63C>T

NM_000268.3(NF2):c.1529A>G (p.Lys510Arg)

NM_017671.4(FERMT1):c.*1365C>A

NM_000268.3(NF2):c.*3613_*3618delCAAGCC

NM_017671.4(FERMT1):c.211C>T (p.Leu71=)

NM_172107.3(KCNQ2):c.816+9T>C

NM_017617.4(NOTCH1):c.5421C>T (p.Asp1807=)

NM_001003800.1(BICD2):c.2445G>A (p.Pro815=)

NM_000238.3(KCNH2):c.276C>T (p.Arg92=)

NM_020822.2(KCNT1):c.2187C>T (p.Ser729=)

NM_007327.3(GRIN1):c.387G>C (p.Ser129=)

NM_213649.1(SFXN4):c.576T>C (p.Thr192=)

NM_004281.3(BAG3):c.943T>A (p.Ser315Thr)

NM_000051.3(ATM):c.8262T>G (p.Thr2754=)

NM_000535.6(PMS2):c.804-20A>T

NM_006415.3(SPTLC1):c.1081+10T>C

NM_000722.3(CACNA2D1):c.1279T>C (p.Leu427=)

NM_014000.2(VCL):c.3154-8C>G

NM_003235.4(TG):c.3367G>A (p.Gly1123Ser)

NM_000920.3(PC):c.796T>G (p.Ser266Ala)

NM_018109.3(MTPAP):c.1637G>A (p.Ser546Asn)

NM_002485.4(NBN):c.-36G>A

NM_006231.3(POLE):c.3061-10C>G

NM_000218.2(KCNQ1):c.624C>T (p.Ala208=)

NM_144670.5(A2ML1):c.3843T>C (p.Val1281=)

NM_006231.3(POLE):c.1687-4C>G

NM_000834.3(GRIN2B):c.2046C>G (p.Arg682=)

NM_000545.6(HNF1A):c.788G>A (p.Arg263His)

NM_001376.4(DYNC1H1):c.1509A>G (p.Gln503=)

NM_006231.3(POLE):c.5334C>T (p.Ala1778=)

NM_032634.3(PIGO):c.2298G>A (p.Leu766=)

NM_000719.6(CACNA1C):c.5444+719G>A

NM_007078.2(LDB3):c.690-4782G>A

NM_000282.3(PCCA):c.1257G>A (p.Gln419=)

NM_015932.5(POMP):c.226C>T (p.Pro76Ser)

NM_014844.4(TECPR2):c.4089G>A (p.Ala1363=)

NM_001271.3(CHD2):c.4138-6T>C

NM_004667.5(HERC2):c.13612G>A (p.Val4538Met)

NM_000256.3(MYBPC3):c.*26+13C>T

NM_000257.3(MYH7):c.5484C>T (p.Ala1828=)

NM_000548.4(TSC2):c.3815-16C>T

NM_004517.3(ILK):c.729-7C>A

NM_173201.3(ATP2A1):c.422A>G (p.Lys141Arg)

NM_004360.4(CDH1):c.49-8C>A

NM_001013703.3(EIF2AK4):c.3408-14G>C

NM_004360.4(CDH1):c.2296-11T>A

NM_015386.2(COG4):c.2225A>G (p.Asn742Ser)

NM_000138.4(FBN1):c.2232G>C (p.Gly744=)

NM_001127464.2(ZNF469):c.519C>G (p.Pro173=)

NM_000548.4(TSC2):c.4155C>G (p.Ser1385=)

NM_018127.6(ELAC2):c.2403C>T (p.Gly801=)

NM_153676.3(USH1C):c.1531-11A>G

NM_170707.3(LMNA):c.1146C>T (p.Gly382=)

NM_170707.3(LMNA):c.789G>A (p.Leu263=)

NM_173477.4(USH1G):c.501C>G (p.Arg167=)

NM_194248.2(OTOF):c.1977G>A (p.Pro659=)

NM_001201543.1(FAM161A):c.1567C>T (p.Arg523Ter)

NM_022067.3(VIPAS39):c.658C>T (p.Arg220Ter)

NM_000277.1(PAH):c.1220C>T (p.Pro407Leu)

NM_000130.4(F5):c.1001G>C (p.Arg334Thr)

NM_173500.3(TTBK2):c.1284_1285delAG (p.Glu429Aspfs)

NM_001145466.1(NCR3):c.-412G>C

NM_000046.3(ARSB):c.629A>G (p.Tyr210Cys)

NM_000505.3(F12):c.983C>G (p.Thr328Arg)

NM_032581.3(FAM126A):c.414+1G>T

B3GALTL, IVS6, G-A, +1

ALDH5A1, IVS5, G-A, +1

NM_153609.3(TMPRSS6):c.1582+1G>A

NM_000190.3(HMBS):c.518G>A (p.Arg173Gln)

LPL, 1-BP DEL, 916G

NM_139281.2(WDR36):c.1586G>A (p.Arg529Gln)

NM_000018.3(ACADVL):c.1372T>C (p.Phe458Leu)

MANBA, IVS13AS, G-A, -1

FIG4, 1-BP DEL, 294T

NM_015046.5(SETX):c.822G>H

NM_000292.2(PHKA2):c.3146C>A (p.Ser1049Ter)

NM_000133.3(F9):c.278A>G (p.Asp93Gly)

NM_000284.3(PDHA1):c.648A>C (p.Leu216Phe)

CYBB, EX4, L1 INS

NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del)

NM_198270.3(NHS):c.853-2A>G

NM_001128834.2(PLP1):c.646C>T (p.Pro216Ser)

WAS, 1-BP INS, 512C

NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly)

NM_004006.2(DMD):c.2791G>T (p.Glu931Ter)

NM_004006.2(DMD):c.3121C>T (p.Gln1041Ter)

NM_000061.2(BTK):c.43C>T (p.Gln15Ter)

NM_000061.2(BTK):c.1906G>T (p.Glu636Ter)

NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp)

CDKL5, IVS6AS, G-T, -1

NM_001159702.2(FHL1):c.457T>C (p.Cys153Arg)

NM_178152.2(DCX):c.608C>G (p.Thr203Arg)

NM_004586.2(RPS6KA3):c.679T>G (p.Ser227Ala)

NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val)

NM_001110556.1(FLNA):c.245A>T (p.Glu82Val)

NM_001127899.3(CLCN5):c.1049G>C (p.Arg350Pro)

MYO7A, 1-BP INS, EX28

F11, DEL

NM_000191.2(HMGCL):c.208G>C (p.Val70Leu)

NM_000151.3(G6PC):c.551G>A (p.Gly184Glu)

F10, PRO343SER

C7, EXON 7-8 DEL

NM_000500.7(CYP21A2):c.1451_1452delGGinsC (p.Arg484Profs)

NM_000490.4(AVP):c.56C>T (p.Ala19Val)

NM_003361.3(UMOD):c.943T>C (p.Cys315Arg)

NM_001014796.1(DDR2):c.2138C>T (p.Thr713Ile)

NM_000546.5(TP53):c.818G>A (p.Arg273His)

NM_000364.3(TNNT2):c.829G>A (p.Asp277Asn)

NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp)

NM_003242.5(TGFBR2):c.1280C>T (p.Pro427Leu)

NM_001128177.1(THRB):c.1148G>A (p.Arg383His)

TF, 10-BP DEL AND 9-BP DUP

NM_004387.3(NKX2-5):c.543G>A (p.Gln181=)

NM_000448.2(RAG1):c.189A>G (p.Pro63=)

NM_198056.2(SCN5A):c.5184C>T (p.Cys1728=)

NM_000545.6(HNF1A):c.1A>G (p.Met1Val)

NM_003242.5(TGFBR2):c.1185G>C (p.Leu395=)

NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp)

CCDC78, IVS1AS, G-A, -1

NM_032806.5(POMGNT2):c.1333C>T (p.Arg445Ter)

NM_006343.2(MERTK):c.2323C>T (p.Arg775Ter)

NM_007294.3(BRCA1):c.1036C>T (p.Pro346Ser)

NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe)

NM_003060.3(SLC22A5):c.629A>G (p.Asn210Ser)

NM_001146040.1(GLRA1):c.920A>C (p.Tyr307Ser)

NM_006796.2(AFG3L2):c.2012G>A (p.Gly671Glu)

NM_181882.2(PRX):c.2098delG (p.Ala700Profs)

NM_020630.4(RET):c.2410G>C (p.Val804Leu)

NM_000495.4(COL4A5):c.2947delT (p.Tyr983Ilefs)

NM_000532.4(PCCB):c.862G>A (p.Val288Ile)

NM_001363.4(DKC1):c.196A>G (p.Thr66Ala)

NM_004614.4(TK2):c.760C>T (p.Arg254Ter)

NM_024312.4(GNPTAB):c.2249dupA (p.Asn750Lysfs)

NM_198253.2(TERT):c.1378_1380delCAG (p.Gln460del)

NM_198578.3(LRRK2):c.2830G>T (p.Asp944Tyr)

NM_198578.3(LRRK2):c.5174G>A (p.Arg1725Gln)

NM_207352.3(CYP4V2):c.1348C>T (p.Gln450Ter)

NM_015338.5(ASXL1):c.2893C>T (p.Arg965Ter)

NM_022437.2(ABCG8):c.320C>G (p.Ser107Ter)

NM_153373.3(PHYKPL):c.1310A>T (p.Glu437Val)

NM_001396.3(DYRK1A):c.142_143delAT (p.Ile48Lysfs)

DDHD1, 1-BP DEL, 1874T

NM_000431.3(MVK):c.764T>C (p.Leu255Pro)

NM_001099922.2(ALG13):c.339A>G (p.Ala113=)

NM_006567.4(FARS2):c.1172A>T (p.Asp391Val)

NM_001142339.2(GNAL):c.463G>A (p.Glu155Lys)

NM_000059.3(BRCA2):c.3212A>G (p.His1071Arg)

NM_000059.3(BRCA2):c.34T>G (p.Phe12Val)

NM_000059.3(BRCA2):c.37_44delGAAATTTT (p.Glu13Terfs)

NM_000059.3(BRCA2):c.4001T>A (p.Leu1334Ter)

NM_000059.3(BRCA2):c.4319A>G (p.Lys1440Arg)

NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn)

NM_000059.3(BRCA2):c.4894A>C (p.Ser1632Arg)

NM_000059.3(BRCA2):c.516+1G>A

NM_000059.3(BRCA2):c.5291C>G (p.Ser1764Ter)

NM_000059.3(BRCA2):c.5609_5610delTCinsAG (p.Phe1870Ter)

NM_000059.3(BRCA2):c.5804A>G (p.Asn1935Ser)

NM_000059.3(BRCA2):c.6033_6034insGT (p.Ser2012Valfs)

NM_000059.3(BRCA2):c.6280_6286delTATTCAC (p.Tyr2094Leufs)

NM_000059.3(BRCA2):c.6444_6447delTATT (p.Ile2149Lysfs)

NM_000059.3(BRCA2):c.6658_6661delGAAA (p.Glu2220Thrfs)

NM_000059.3(BRCA2):c.6823_6825delGAG (p.Glu2275del)

NM_000059.3(BRCA2):c.7025_7026delAA (p.Gln2342Argfs)

NM_000059.3(BRCA2):c.729_732delTGAT (p.Asn243Lysfs)

NM_000059.3(BRCA2):c.7544delC (p.Thr2515Asnfs)

NM_000059.3(BRCA2):c.775delA (p.Arg259Glufs)

NM_000059.3(BRCA2):c.7976+23C>T

NM_000059.3(BRCA2):c.8090G>A (p.Ser2697Asn)

NM_000218.2(KCNQ1):c.964A>G (p.Thr322Ala)

NM_000492.3(CFTR):c.1152delA (p.Glu384Aspfs)

NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser)

NM_000492.3(CFTR):c.164+1G>T

NM_000492.3(CFTR):c.170G>A (p.Trp57Ter)

NM_000492.3(CFTR):c.1856T>C (p.Leu619Ser)

NM_000492.3(CFTR):c.2233G>T (p.Gly745Ter)

NM_000492.3(CFTR):c.254G>T (p.Gly85Val)

NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys)

NM_000492.3(CFTR):c.296C>T (p.Pro99Leu)

NM_000492.3(CFTR):c.3140-4A>G

NM_000492.3(CFTR):c.3304A>T (p.Arg1102Ter)

NM_000492.3(CFTR):c.350G>C (p.Arg117Pro)

NM_000492.3(CFTR):c.3816_3817delGT (p.Ser1273Leufs)

NM_000492.3(CFTR):c.3985G>C (p.Glu1329Gln)

NM_000492.3(CFTR):c.4201G>T (p.Glu1401Ter)

NM_000492.3(CFTR):c.489+2T>C

NM_000492.3(CFTR):c.596A>G (p.His199Arg)

NM_000492.3(CFTR):c.861C>G (p.Asn287Lys)

NM_007294.3(BRCA1):c.1082C>G (p.Ser361Ter)

NM_007294.3(BRCA1):c.1241dupA (p.Asp414Glufs)

NM_007294.3(BRCA1):c.1363_1364insGA (p.Asn455Argfs)

NM_007294.3(BRCA1):c.1504_1518delTTAAAGCGTAAAAGG (p.Leu502_Arg506del)

NM_007294.3(BRCA1):c.1673_1674delAA (p.Lys558Argfs)

NM_007294.3(BRCA1):c.1868T>C (p.Leu623Pro)

NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter)

NM_007294.3(BRCA1):c.213-2A>C

NM_007294.3(BRCA1):c.2292_2310dup19 (p.Leu771Argfs)

NM_007294.3(BRCA1):c.3715_3717delTCTinsC (p.Ser1239Profs)

NM_001142864.3(PIEZO1):c.2423G>A (p.Arg808Gln)

NM_000170.2(GLDC):c.2839-1G>C

NM_000310.3(PPT1):c.*526_*529delATCA

NM_000310.3(PPT1):c.3G>A (p.Met1Ile)

NM_001042432.1(CLN3):c.1001G>A (p.Arg334His)

NM_001042432.1(CLN3):c.963-1G>T

NM_001126105.2(SLC7A7):c.1005_1008delCTTT (p.Phe335Leufs)

NM_003332.3(TYROBP):c.262G>T (p.Glu88Ter)

NM_004646.3(NPHS1):c.1724C>A (p.Pro575Gln)

NM_004646.3(NPHS1):c.3356_3357dupGG (p.Thr1120Glyfs)

NM_007035.3(KERA):c.391A>G (p.Asn131Asp)

NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg)

NM_017890.4(VPS13B):c.2934+1_2934+2delGT

NM_018941.3(CLN8):c.415C>T (p.His139Tyr)

NM_030943.3(AMN):c.683_730del48 (p.Gln228_Leu243del)

NM_000497.3(CYP11B1):c.928G>A (p.Glu310Lys)

GRCh38/hg38 3p26.3(chr3:2301168-2754945)x3

GRCh38/hg38 6q27(chr6:170471093-170583214)x3

GRCh38/hg38 8q24.13(chr8:122751607-123361569)x3

GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3

GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1

GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3

GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1

GRCh38/hg38 1p35.2(chr1:30116821-30696608)x1

NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10)

NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg)

NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val)

NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp)

U14680.1:n.3702delA

NM_007294.3(BRCA1):c.4357+117G>A

U14680.1:n.5271+65G>A

NM_007294.3(BRCA1):c.5407-21C>T

U14680.1:n.790-141C>A

NM_000059.3(BRCA2):c.1938C>A (p.Ser646Arg)

NM_000059.3(BRCA2):c.4008_4009insCATC (p.Asp1337Hisfs)

U43746.1:n.6741G>C

U43746.1:n.8397dupTGGG

NM_001080522.2(CC2D2A):c.2182-24C>T

NM_024809.4(TCTN2):c.1099+19T>C

NM_020732.3(ARID1B):c.4495A>T (p.Met1499Leu)

NM_016381.5(TREX1):c.665delG (p.Ser222Thrfs)

NM_006392.3(NOP56):c.3+71_3+76GGCCTG(650_?)

NM_005228.4(EGFR):c.2393T>A (p.Leu798His)

NM_024675.3(PALB2):c.1222T>C (p.Tyr408His)

NM_024675.3(PALB2):c.2301C>A (p.Val767=)

NM_024675.3(PALB2):c.2920_2921delAA (p.Lys974Glufs)

NM_024675.3(PALB2):c.3497delG (p.Gly1166Valfs)

NM_000321.2(RB1):c.2197C>T (p.His733Tyr)

NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter)

NM_007194.3(CHEK2):c.1067C>T (p.Ser356Leu)

NM_000428.2(LTBP2):c.4668G>C (p.Pro1556=)

NM_002485.4(NBN):c.*401C>G

NM_134424.3(RAD52):c.186+89C>T

NM_005051.2(QARS):c.134G>T (p.Gly45Val)

NM_007325.4(GRIA3):c.1888G>C (p.Gly630Arg)

NM_000488.3(SERPINC1):c.886G>C (p.Ala296Pro)

NM_000312.3(PROC):c.580C>T (p.Arg194Cys)

NM_000527.4(LDLR):c.232C>T (p.Arg78Cys)

NM_206933.2(USH2A):c.5837G>T (p.Arg1946Leu)

NM_012090.5(MACF1):c.1523G>C (p.Arg508Thr)

NM_022168.3(IFIH1):c.816A>C (p.Glu272Asp)

NM_001063.3(TF):c.1069G>T (p.Glu357Ter)

NM_017639.3(DCHS2):c.3010G>A (p.Gly1004Arg)

NM_145028.4(ARMC12):c.682G>T (p.Asp228Tyr)

NM_003235.4(TG):c.3886T>A (p.Phe1296Ile)

NM_000093.4(COL5A1):c.3055C>G (p.Pro1019Ala)

NM_001185090.1(GRIN1):c.350C>T (p.Pro117Leu)

NM_000663.4(ABAT):c.199-?_316+?del

NM_018419.2(SOX18):c.481C>T (p.Gln161Ter)

NC_000021.8:g.(?_38007970)_(39747620_?)del

NM_001987.4(ETV6):c.1195C>T (p.Arg399Cys)

NM_002617.3(PEX10):c.337delC (p.Leu113Trpfs)

NM_007294.3(BRCA1):c.4468G>T (p.Glu1490Ter)

NM_000426.3(LAMA2):c.9145C>G (p.Gln3049Glu)

NM_206933.2(USH2A):c.15281C>T (p.Pro5094Leu)

NM_133378.4(TTN):c.86960G>A (p.Arg28987His)

NM_133378.4(TTN):c.40756+5G>A

NM_133378.4(TTN):c.38853T>G (p.Val12951=)

NM_206933.2(USH2A):c.486-13G>A

NM_133378.4(TTN):c.60504T>A (p.Val20168=)

NM_003319.4(TTN):c.74730A>G (p.Leu24910=)

NM_001256850.1(TTN):c.10837G>A (p.Glu3613Lys)

NM_133379.4(TTN):c.12654T>G (p.Ile4218Met)

NM_001256850.1(TTN):c.14824+14C>T

NM_133378.4(TTN):c.4396T>C (p.Phe1466Leu)

NM_001369.2(DNAH5):c.8898G>A (p.Thr2966=)

NM_194248.2(OTOF):c.3332C>T (p.Pro1111Leu)

NM_198253.2(TERT):c.3324G>A (p.Pro1108=)

NM_198056.2(SCN5A):c.486C>T (p.Tyr162=)

NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp)

NM_133378.4(TTN):c.48096G>A (p.Trp16032Ter)

NM_032383.4(HPS3):c.970+7A>G

NM_147196.2(TMIE):c.191C>T (p.Ser64Leu)

NM_004415.3(DSP):c.3119A>G (p.Glu1040Gly)

NM_016203.3(PRKAG2):c.250C>T (p.Arg84Trp)

NM_001277115.1(DNAH11):c.4254+13G>A

NM_172244.2(SGCD):c.-378G>T

NM_170707.3(LMNA):c.1562G>T (p.Gly521Val)

NM_001035.2(RYR2):c.527G>A (p.Arg176Gln)

NM_001035.2(RYR2):c.4780G>A (p.Val1594Ile)

NM_001035.2(RYR2):c.10529G>A (p.Arg3510His)

NM_001035.2(RYR2):c.14695G>A (p.Asp4899Asn)

NM_174936.3(PCSK9):c.1380A>G (p.Val460=)

NM_198056.2(SCN5A):c.5144G>C (p.Gly1715Ala)

NM_198056.2(SCN5A):c.3840+5G>A

NM_198056.2(SCN5A):c.2209G>A (p.Glu737Lys)

NM_198056.2(SCN5A):c.1842A>G (p.Pro614=)

NM_130799.2(MEN1):c.1533_1534dupGT (p.Ser512Cysfs)

NM_002474.2(MYH11):c.4303G>A (p.Asp1435Asn)

NM_001103.3(ACTN2):c.1919G>A (p.Arg640His)

NM_144573.3(NEXN):c.542C>A (p.Thr181Lys)

NM_000337.5(SGCD):c.242_244delGAG (p.Gly81del)

NM_014000.2(VCL):c.2428G>A (p.Asp810Asn)

NM_004572.3(PKP2):c.1855G>T (p.Glu619Ter)

NM_004572.3(PKP2):c.457G>A (p.Asp153Asn)

NM_002230.2(JUP):c.406G>C (p.Asp136His)

NM_033118.3(MYLK2):c.1657C>T (p.Arg553Cys)

NM_001256850.1(TTN):c.67078G>A (p.Ala22360Thr)

NM_005732.3(RAD50):c.1173A>G (p.Arg391=)

NM_005732.3(RAD50):c.1216G>A (p.Gly406Arg)

NM_005732.3(RAD50):c.2607G>A (p.Glu869=)

NM_005732.3(RAD50):c.2661G>A (p.Leu887=)

NM_000535.6(PMS2):c.2010A>G (p.Lys670=)

NM_002485.4(NBN):c.2158G>A (p.Glu720Lys)

NM_002485.4(NBN):c.1496C>T (p.Ser499Leu)

NM_000368.4(TSC1):c.3296A>G (p.Lys1099Arg)

NM_000051.3(ATM):c.707T>C (p.Leu236Pro)

NM_000051.3(ATM):c.4401C>T (p.Asp1467=)

NM_000051.3(ATM):c.4506C>T (p.Cys1502=)

NM_005591.3(MRE11):c.2043G>A (p.Ser681=)

NM_000059.3(BRCA2):c.7093C>T (p.His2365Tyr)

NM_000059.3(BRCA2):c.7547C>T (p.Ser2516Phe)

NM_024675.3(PALB2):c.3165C>A (p.Tyr1055Ter)

NM_024675.3(PALB2):c.2108T>G (p.Leu703Ter)

NM_001042492.2(NF1):c.1917T>C (p.Asn639=)

NM_001042492.2(NF1):c.4384C>A (p.Arg1462=)

NM_001042492.2(NF1):c.5026G>A (p.Ala1676Thr)

NM_001042492.2(NF1):c.6967C>T (p.Leu2323=)

NM_007294.3(BRCA1):c.2393C>T (p.Pro798Leu)

NM_001148.4(ANK2):c.2987G>A (p.Arg996Gln)

NM_000257.3(MYH7):c.2508C>G (p.Ile836Met)

NM_033163.3(FGF8):c.317C>A (p.Ala106Glu)

NM_000260.3(MYO7A):c.4066A>T (p.Ser1356Cys)

NM_005199.4(CHRNG):c.1115C>T (p.Ser372Phe)

NM_199242.2(UNC13D):c.271G>A (p.Val91Met)

NM_001131025.1(PEX5):c.815T>C (p.Met272Thr)

NM_138477.2(CDAN1):c.2836C>T (p.Arg946Trp)

NM_025074.6(FRAS1):c.7551T>A (p.Tyr2517Ter)

NC_012920.1:m.9861T>C

NM_207361.5(FREM2):c.3116T>A (p.Met1039Lys)

NM_000199.3(SGSH):c.1283G>A (p.Arg428His)

NM_000693.3(ALDH1A3):c.43A>G (p.Arg15Gly)

NM_000263.3(NAGLU):c.421T>A (p.Ser141Thr)

NM_006172.3(NPPA):c.252C>T (p.Thr84=)

NM_003000.2(SDHB):c.722A>G (p.Tyr241Cys)

NM_000488.3(SERPINC1):c.1154G>A (p.Gly385Asp)

NM_001103.3(ACTN2):c.2082G>C (p.Lys694Asn)

NM_001128425.1(MUTYH):c.541T>G (p.Ser181Ala)

NM_000969.3(RPL5):c.325-4A>G

NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg)

NM_001267550.2(TTN):c.52731_52732delAG (p.Arg17577Serfs)

NM_000384.2(APOB):c.6136G>A (p.Val2046Ile)

NM_004304.4(ALK):c.4625C>T (p.Pro1542Leu)

NM_004304.4(ALK):c.1719C>T (p.Thr573=)

NM_000251.2(MSH2):c.427G>A (p.Ala143Thr)

NM_005051.2(QARS):c.1635A>G (p.Gln545=)

NM_004656.3(BAP1):c.1035G>C (p.Gly345=)

NM_003924.3(PHOX2B):c.741_761del21 (p.Ala254_Ala260del)

NM_006206.4(PDGFRA):c.3083T>C (p.Val1028Ala)

NM_198253.2(TERT):c.2843+6C>T

NM_005732.3(RAD50):c.3799dupA (p.Ile1267Asnfs)

NM_004168.3(SDHA):c.1242C>T (p.Pro414=)

NM_001206927.1(DNAH8):c.47C>T (p.Ala16Val)

NM_000535.6(PMS2):c.2007-10C>T

NM_001369.2(DNAH5):c.13724-35T>A

NM_001369.2(DNAH5):c.6167A>T (p.Lys2056Ile)

NM_006846.3(SPINK5):c.1011-12C>T

NM_001135243.1(TCOF1):c.295G>A (p.Ala99Thr)

NM_016180.4(SLC45A2):c.1369-18T>C

NM_000426.3(LAMA2):c.2857-39T>C

NM_017651.4(AHI1):c.178A>G (p.Thr60Ala)

NM_014780.4(CUL7):c.3993G>A (p.Leu1331=)

NM_012120.2(CD2AP):c.696C>T (p.Ser232=)

NM_001851.4(COL9A1):c.1765-21G>A

NM_001458.4(FLNC):c.6004+11G>A

NM_005989.3(AKR1D1):c.*5A>C

NM_002769.4(PRSS1):c.592-9T>C

NM_001277115.1(DNAH11):c.4945-12T>C

NM_001277115.1(DNAH11):c.11203-4C>T

NM_000168.5(GLI3):c.*15dupA

NM_000443.3(ABCB4):c.2395-19C>T

NM_004959.4(NR5A1):c.375G>A (p.Pro125=)

NM_007171.3(POMT1):c.1764+11G>C

NM_000093.4(COL5A1):c.2431-25G>A

NM_012330.3(KAT6B):c.4074_4079delGGAGGA (p.Glu1367_Glu1368del)

NM_005271.4(GLUD1):c.647-14C>G

NM_000314.6(PTEN):c.210-39A>G

NM_000235.3(LIPA):c.67G>A (p.Gly23Arg)

NM_006204.3(PDE6C):c.1270-9C>T

NM_004771.3(MMP20):c.649+8T>C

NM_016952.4(CDON):c.3039C>T (p.Asn1013=)

NM_000260.3(MYO7A):c.3375+33G>C

NM_000431.3(MVK):c.1040-5C>T

NM_001843.3(CNTN1):c.401-14delT

NM_000289.5(PFKM):c.428-39G>A

NM_000123.3(ERCC5):c.945C>T (p.His315=)

NM_001845.5(COL4A1):c.3189A>T (p.Arg1063=)

NM_014363.5(SACS):c.11032C>G (p.Pro3678Ala)

NM_001024858.2(SPTB):c.2060G>A (p.Arg687His)

NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg)

NM_014967.4(FAN1):c.3015T>C (p.His1005=)

NM_002500.4(NEUROD1):c.973C>A (p.Arg325Ser)

NM_133378.4(TTN):c.45878-4A>G

NM_005259.2(MSTN):c.674T>C (p.Ile225Thr)

NM_032977.3(CASP10):c.*2979C>T

NM_001044385.2(TMEM237):c.*2960C>A

NM_001204.6(BMPR2):c.-93A>G

NM_012092.3(ICOS):c.501+7G>A

NM_001006657.1(WDR35):c.2140A>G (p.Thr714Ala)

NM_015040.3(PIKFYVE):c.279A>G (p.Lys93=)

NM_002056.3(GFPT1):c.*5261G>C

NM_020919.3(ALS2):c.4404-14C>T

NM_003124.4(SPR):c.*308C>T

NM_080916.2(DGUOK):c.-1G>A

NM_005006.6(NDUFS1):c.364G>A (p.Ala122Thr)

NM_004082.4(DCTN1):c.646-15G>A

NM_014929.3(FASTKD2):c.*2009_*2010delAA

NM_000384.2(APOB):c.288G>T (p.Gln96His)

NM_004836.6(EIF2AK3):c.*360C>T

NM_014014.4(SNRNP200):c.4056G>A (p.Thr1352=)

NM_001002755.2(NFU1):c.62+10G>A

NM_025216.2(WNT10A):c.-202G>C

NM_016247.3(IMPG2):c.*380C>A

NM_000551.3(VHL):c.*1023G>A

NM_000551.3(VHL):c.*2548_*2549delGA

NM_000821.6(GGCX):c.*3647A>G

NM_020754.3(ARHGAP31):c.3983G>A (p.Arg1328Gln)

NM_022912.2(REEP1):c.*2920T>G

NM_198196.2(CD96):c.584G>A (p.Gly195Asp)

NM_005460.3(SNCAIP):c.2710A>G (p.Lys904Glu)

NM_001182.4(ALDH7A1):c.*1496T>A

NM_032446.2(MEGF10):c.*2236C>A

NM_002397.4(MEF2C):c.*1337A>T

NM_005573.3(LMNB1):c.-552G>A

NM_018100.3(EFHC1):c.*1876T>G

NM_032446.2(MEGF10):c.1673G>T (p.Arg558Leu)

NM_198253.2(TERT):c.663G>T (p.Ala221=)

NM_014402.4(UQCRQ):c.*756C>T

NM_001999.3(FBN2):c.*119C>T

NM_001142800.1(EYS):c.3345A>G (p.Glu1115=)

NM_014028.3(OSTM1):c.*2990T>C

NM_001369.2(DNAH5):c.8273A>C (p.Glu2758Ala)

NM_001369.2(DNAH5):c.5022T>A (p.Ser1674Arg)

NM_017415.2(KLHL3):c.*2248C>T

NM_014845.5(FIG4):c.-121G>A

NM_000493.3(COL10A1):c.*328delA

NM_017415.2(KLHL3):c.-352G>A

NM_000165.4(GJA1):c.*968T>C

NM_005219.4(DIAPH1):c.*1765_*1766dupCT

NM_001018077.1(NR3C1):c.*752A>G

NM_017651.4(AHI1):c.*1426A>T

NM_000337.5(SGCD):c.*317C>T

NM_000806.5(GABRA1):c.-220T>C

NM_000337.5(SGCD):c.*4395A>T

NM_000816.3(GABRG2):c.402C>G (p.Val134=)

NM_000337.5(SGCD):c.*7506C>G

NM_000168.5(GLI3):c.*2465G>C

NM_001034850.2(RETREG1):c.808+6T>C

NM_014855.2(AP5Z1):c.*910G>A

NM_014855.2(AP5Z1):c.*2849G>T

NM_000048.3(ASL):c.1124A>G (p.Tyr375Cys)

NM_001017995.2(SH3PXD2B):c.*636G>T

NM_001024630.3(RUNX2):c.*1859A>G

NM_000505.3(F12):c.1251-12C>A

NM_012120.2(CD2AP):c.*1606G>A

NM_014244.4(ADAMTS2):c.3342C>T (p.Asn1114=)

NM_022455.4(NSD1):c.*4541dupA

NM_005751.4(AKAP9):c.2328G>A (p.Glu776=)

NM_138694.3(PKHD1):c.*2553dupA

NM_052872.3(IL17F):c.377A>G (p.Glu126Gly)

NM_004172.4(SLC1A3):c.*694T>C

NM_023073.3(C5orf42):c.7099A>G (p.Lys2367Glu)

NM_015713.4(RRM2B):c.*788T>C

NM_000129.3(F13A1):c.2029A>G (p.Met677Val)

NM_002185.3(IL7R):c.*1326A>G

NM_178857.5(RP1L1):c.1779G>A (p.Thr593=)

NM_133433.3(NIPBL):c.8236G>A (p.Gly2746Ser)

NM_021252.4(RAB18):c.*3453G>A

NM_002900.2(RBP3):c.2121G>A (p.Glu707=)

NM_017890.4(VPS13B):c.*1345C>T

NM_017890.4(VPS13B):c.5738T>C (p.Ile1913Thr)

NM_001082538.2(TCTN1):c.14G>A (p.Gly5Asp)

NM_000017.3(ACADS):c.*527A>G

NM_024809.4(TCTN2):c.776A>G (p.Gln259Arg)

NM_004064.4(CDKN1B):c.-271delC

NM_002316.3(LMX1B):c.*515A>G

NM_002316.3(LMX1B):c.*2459_*2461delCTT

NM_002247.3(KCNMA1):c.3159G>A (p.Ala1053=)

NM_138361.5(LRSAM1):c.-328_-326delTGT

NM_006446.4(SLCO1B1):c.1459G>T (p.Ala487Ser)

NM_003165.3(STXBP1):c.*316C>T

NM_007055.3(POLR3A):c.2286C>T (p.His762=)

NM_001130438.2(SPTAN1):c.922G>A (p.Glu308Lys)

NM_000719.6(CACNA1C):c.4526+12G>C

NM_000550.2(TYRP1):c.1029C>T (p.Asp343=)

NM_033100.3(CDHR1):c.138G>A (p.Glu46=)

NM_000118.3(ENG):c.-338G>A

NM_000368.4(TSC1):c.*2364T>A

NM_000314.6(PTEN):c.-511G>A

NM_000314.6(PTEN):c.*1459T>A

NM_001613.2(ACTA2):c.390T>C (p.Asn130=)

NM_014391.2(ANKRD1):c.3G>C (p.Met1Ile)

NM_000093.4(COL5A1):c.431C>A (p.Thr144Lys)

NM_015046.5(SETX):c.*2232T>C

NM_016341.3(PLCE1):c.2770G>A (p.Gly924Ser)

NM_000093.4(COL5A1):c.*660G>A

NM_015046.5(SETX):c.4020G>T (p.Lys1340Asn)

NM_003482.3(KMT2D):c.188T>C (p.Val63Ala)

NM_000368.4(TSC1):c.*3988G>A

NM_014564.4(LHX3):c.*501A>T

NM_000486.5(AQP2):c.*485C>T

NM_000787.3(DBH):c.1028G>A (p.Arg343Gln)

NM_024757.4(EHMT1):c.1299C>T (p.Thr433=)

NM_002427.3(MMP13):c.*1102T>C

NM_016219.4(MAN1B1):c.792C>T (p.Tyr264=)

NM_000039.2(APOA1):c.116C>T (p.Ala39Val)

NM_006031.5(PCNT):c.8399G>A (p.Arg2800Gln)

NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr)

NM_002471.3(MYH6):c.5347C>T (p.Arg1783Cys)

NM_001079668.2(NKX2-1):c.201G>A (p.Pro67=)

NM_000362.4(TIMP3):c.*1812dupA

NM_005982.3(SIX1):c.*1008delA

NM_001429.3(EP300):c.157T>C (p.Leu53=)

NM_001429.3(EP300):c.6516C>A (p.His2172Gln)

NM_022807.4(SNRPN):c.-579+5G>A

NM_025225.2(PNPLA3):c.-44C>G

NM_006953.3(UPK3A):c.402C>T (p.Val134=)

NM_012232.5(CAVIN1):c.*522G>A

NM_032387.4(WNK4):c.1524T>C (p.Arg508=)

NM_005138.2(SCO2):c.276A>G (p.Glu92=)

NM_000342.3(SLC4A1):c.173A>G (p.Tyr58Cys)

NM_152594.2(SPRED1):c.*4932A>G

NM_002225.3(IVD):c.*2850A>G

NM_000021.3(PSEN1):c.337C>T (p.Leu113=)

NM_005910.5(MAPT):c.*3381G>C

NM_018129.3(PNPO):c.*656_*657dupTT

NM_000080.3(CHRNE):c.*267C>T

NM_153380.3(ZNF41):c.348C>T (p.Phe116=)

NM_000088.3(COL1A1):c.298+7C>A

NM_007137.3(ZNF81):c.*2624A>G

NM_006306.3(SMC1A):c.*2050T>C

NM_032043.2(BRIP1):c.*1263A>G

NM_001109878.1(TBX22):c.*347T>C

NM_153252.4(BRWD3):c.3326-14dupT

NM_018418.4(SPATA7):c.971G>A (p.Gly324Glu)

NM_006329.3(FBLN5):c.-152C>T

NM_004239.4(TRIP11):c.-128C>T

NM_144599.4(NIPA1):c.*2079T>G

NM_144599.4(NIPA1):c.*5331T>G

NM_002420.5(TRPM1):c.312T>C (p.His104=)

NM_005159.4(ACTC1):c.*674C>A

NM_139057.3(ADAMTS17):c.*359A>G

NM_016013.3(NDUFAF1):c.-352C>T

NM_138477.2(CDAN1):c.2406C>T (p.Ile802=)

NM_173500.3(TTBK2):c.2295G>T (p.Leu765=)

NM_001143979.1(NDE1):c.-512dupT

NM_001139.2(ALOX12B):c.1926+9C>T

NM_000238.3(KCNH2):c.545C>A (p.Ser182Ter)

NM_007373.3(SHOC2):c.514C>T (p.Arg172Trp)

NM_000359.2(TGM1):c.1082T>C (p.Ile361Thr)

NM_001376.4(DYNC1H1):c.1869C>G (p.Phe623Leu)

NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser)

NM_000257.3(MYH7):c.485A>G (p.Tyr162Cys)

NM_030662.3(MAP2K2):c.541T>A (p.Leu181Met)

NM_001399.4(EDA):c.932A>C (p.Tyr311Ser)

NM_001942.3(DSG1):c.1176T>G (p.Tyr392Ter)

NM_005120.2(MED12):c.4342G>A (p.Gly1448Arg)

NM_012330.3(KAT6B):c.3154_3169del16 (p.Arg1052Serfs)

NM_005502.3(ABCA1):c.2803A>G (p.Asn935Asp)

NM_207036.1(TCF12):c.1876C>T (p.Arg626Ter)

NM_030962.3(SBF2):c.3865C>T (p.Arg1289Trp)

NM_014191.3(SCN8A):c.2691T>C (p.Phe897=)

NM_005097.3(LGI1):c.1300G>T (p.Ala434Ser)

NM_001040142.1(SCN2A):c.5580T>G (p.Ala1860=)

NM_138361.5(LRSAM1):c.1026G>T (p.Leu342=)

NM_000548.4(TSC2):c.2356C>T (p.Arg786Cys)

NM_020732.3(ARID1B):c.919_933delGGCGGCGGCGGCGGC (p.Gly315_Gly319del)

NM_130837.2(OPA1):c.1230+5G>A

NM_003245.3(TGM3):c.1351C>T (p.Gln451Ter)

NM_022089.3(ATP13A2):c.1345C>T (p.Arg449Ter)

NM_000527.4(LDLR):c.2579C>T (p.Ala860Val)

NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del

NM_182476.2(COQ6):c.763G>A (p.Gly255Arg)

NM_001037161.1(ACOT1):c.410_423delAGCCGGTGCGCGCG (p.Glu137Glyfs)

NM_007294.3(BRCA1):c.3902G>A (p.Ser1301Asn)

NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser)

NM_017780.3(CHD7):c.1552C>T (p.Gln518Ter)

NM_003482.3(KMT2D):c.2994delT (p.Met999Terfs)

NM_032387.4(WNK4):c.1682C>T (p.Pro561Leu)

NM_000527.4(LDLR):c.244_250dupTGCATTC (p.Pro84Leufs)

NM_000179.2(MSH6):c.3915T>C (p.Leu1305=)

NM_000551.3(VHL):c.*7C>A

NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp)

NM_006302.2(MOGS):c.1801C>T (p.Arg601Ter)

NM_053025.3(MYLK):c.755-12C>T

NM_144736.4(NDUFAF7):c.846C>T (p.Ile282=)

NM_005051.2(QARS):c.451+18C>T

NM_000158.3(GBE1):c.333G>C (p.Ser111=)

NM_000249.3(MLH1):c.1095T>C (p.Ser365=)

NM_000094.3(COL7A1):c.3446A>G (p.Asp1149Gly)

NM_006005.3(WFS1):c.-27C>T

NM_015120.4(ALMS1):c.3106C>T (p.Pro1036Ser)

NM_152778.2(MFSD8):c.544C>T (p.Leu182=)

NM_015929.3(LIPT1):c.-128+19C>T

NM_001999.3(FBN2):c.4550G>A (p.Cys1517Tyr)

NM_001999.3(FBN2):c.2013G>A (p.Gly671=)

NM_001034850.2(RETREG1):c.380G>A (p.Arg127His)

NM_018901.3(PCDHA10):c.897A>T (p.Gly299=)

NM_181523.2(PIK3R1):c.1042C>T (p.Arg348Ter)

NM_033071.3(SYNE1):c.887G>C (p.Ser296Thr)

NM_001457.3(FLNB):c.6315C>T (p.Ala2105=)

NM_013352.3(DSE):c.359T>C (p.Ile120Thr)

NM_000108.4(DLD):c.321A>G (p.Ala107=)

NM_000108.4(DLD):c.-7C>G

NM_000038.5(APC):c.1313-18G>A

NM_001127500.2(MET):c.1201-14A>G

NM_001458.4(FLNC):c.3476G>A (p.Arg1159Gln)

NM_000535.6(PMS2):c.1203T>C (p.Asp401=)

NM_000238.3(KCNH2):c.2296G>T (p.Gly766Trp)

NM_000722.3(CACNA2D1):c.-40C>T

NM_032415.5(CARD11):c.2900G>A (p.Arg967His)

NM_001130438.2(SPTAN1):c.5649T>C (p.Asn1883=)

NM_024790.6(CSPP1):c.2615G>A (p.Arg872His)

NM_020822.2(KCNT1):c.3632C>G (p.Ser1211Cys)

NM_001167734.1(VARS2):c.280G>A (p.Gly94Arg)

NM_001134363.2(RBM20):c.1620G>A (p.Leu540=)

NM_001130438.2(SPTAN1):c.6343G>T (p.Ala2115Ser)

NM_000540.2(RYR1):c.14578T>G (p.Phe4860Val)

NM_152641.3(ARID2):c.4705G>A (p.Ala1569Thr)

NM_000051.3(ATM):c.4779A>G (p.Glu1593=)

NM_001706.4(BCL6):c.905A>G (p.Glu302Gly)

NM_007294.3(BRCA1):c.290C>T (p.Thr97Ile)

NM_001211.5(BUB1B):c.676A>C (p.Thr226Pro)

NM_001321786.1(CBLB):c.2731A>G (p.Asn911Asp)

NM_000075.3(CDK4):c.523G>A (p.Val175Ile)

NM_004380.2(CREBBP):c.2539C>A (p.Pro847Thr)

NM_177438.2(DICER1):c.1013A>C (p.Glu338Ala)

NM_005228.4(EGFR):c.2024G>A (p.Arg675Gln)

NM_001005862.2(ERBB2):c.2350C>T (p.Arg784Cys)

NM_000122.1(ERCC3):c.682G>C (p.Gly228Arg)

NM_000123.3(ERCC5):c.362C>T (p.Thr121Ile)

NM_004456.4(EZH2):c.1181G>C (p.Gly394Ala)

NM_000135.2(FANCA):c.3982A>G (p.Thr1328Ala)

NM_033084.4(FANCD2):c.577A>G (p.Thr193Ala)

NM_001013415.1(FBXW7):c.134T>G (p.Phe45Cys)

NM_144606.5(FLCN):c.992C>T (p.Thr331Met)

NM_001077490.2(GNAS):c.1120C>A (p.Pro374Thr)

NM_002185.3(IL7R):c.772A>G (p.Ile258Val)

NM_000215.3(JAK3):c.3268G>A (p.Ala1090Thr)

NM_000222.2(KIT):c.1195G>A (p.Val399Ile)

NM_003482.3(KMT2D):c.5546G>A (p.Gly1849Glu)

NM_003482.3(KMT2D):c.553C>T (p.Arg185Cys)

NM_170606.2(KMT2C):c.9425A>G (p.Gln3142Arg)

NM_005373.2(MPL):c.733G>A (p.Gly245Arg)

NM_001042492.2(NF1):c.456A>G (p.Ala152=)

NM_017617.4(NOTCH1):c.4276C>T (p.His1426Tyr)

NM_024408.3(NOTCH2):c.7209T>A (p.Ser2403Arg)

NM_020975.4(RET):c.2166G>T (p.Lys722Asn)

NM_001042492.2(NF1):c.7663A>G (p.Lys2555Glu)

NM_058216.2(RAD51C):c.59C>G (p.Ser20Cys)

NM_032043.2(BRIP1):c.2582C>G (p.Ser861Cys)

NM_000546.5(TP53):c.1135C>A (p.Arg379Ser)

NM_000455.4(STK11):c.828C>A (p.Gly276=)

NM_007254.3(PNKP):c.1123G>T (p.Gly375Trp)

NC_000016.9:g.(?_21601904)_(21739542_?)del

NM_005957.4(MTHFR):c.1530+2T>C

NM_004409.4(DMPK):c.*224_*226[241]

NM_004409.4(DMPK):c.*224_*226[508]

NM_001018005.1(TPM1):c.746T>G (p.Leu249Trp)

NM_000642.2(AGL):c.2309-1G>A

NM_138694.3(PKHD1):c.11524C>T (p.Arg3842Ter)

NM_000466.2(PEX1):c.3G>A (p.Met1Ile)

NM_001128227.2(GNE):c.479G>A (p.Arg160Gln)

NM_000352.4(ABCC8):c.2857C>T (p.Gln953Ter)

NM_000543.4(SMPD1):c.1805G>A (p.Arg602His)

NM_000053.3(ATP7B):c.3598C>T (p.Gln1200Ter)

NM_000295.4(SERPINA1):c.552C>G (p.Tyr184Ter)

NM_000152.4(GAA):c.2024_2026delACA (p.Asn675del)

NC_000023.10:g.(154104116_154124111)_(154564398_154628663)del

NM_014795.3(ZEB2):c.1749C>A (p.Cys583Ter)

NM_012130.3(CLDN14):c.694G>A (p.Gly232Arg)

NM_014783.5(ARHGAP11A):c.1355C>G (p.Ser452Cys)

NM_000314.6(PTEN):c.385G>A (p.Gly129Arg)

NM_000314.6(PTEN):c.*10delT

NM_005249.4(FOXG1):c.644_645delTCinsCT (p.Phe215Ser)

NM_003159.2(CDKL5):c.-253_-163+?del

NM_003159.2(CDKL5):c.65-?_99+?del

NM_004992.3(MECP2):c.27-4722_*739delins43

NM_004992.3(MECP2):c.1097_*13del378

NM_004992.3(MECP2):c.1093_1095delGAG (p.Glu365del)

NM_000751.2(CHRND):c.1204G>A (p.Glu402Lys)

NM_001165963.1(SCN1A):c.3017delA (p.Asp1006Valfs)

NM_001165963.1(SCN1A):c.1199T>A (p.Met400Lys)

NM_001165963.1(SCN1A):c.1055_1056delTG (p.Val352Glufs)

NM_001165963.1(SCN1A):c.384_473del90 (p.Leu129_Glu158del)

NM_000124.3(ERCC6):c.3177T>C (p.Ser1059=)

NM_001277115.1(DNAH11):c.858A>G (p.Glu286=)

NM_001018116.2(CAVIN4):c.233C>T (p.Ser78Leu)

NM_015404.3(WHRN):c.2029A>G (p.Ile677Val)

NM_012144.3(DNAI1):c.645_647delTCCinsCCT (p.Pro216Leu)

NM_001170416.1(TJP2):c.68G>C (p.Gly23Ala)

NM_017433.4(MYO3A):c.4730+11A>C

NM_032578.3(MYPN):c.3591C>A (p.Gly1197=)

NM_022124.5(CDH23):c.9883A>C (p.Thr3295Pro)

NM_002458.2(MUC5B):c.2068A>G (p.Lys690Glu)

NM_001277269.1(OTOG):c.3654C>T (p.Ser1218=)

NM_012226.4(P2RX2):c.559-8_559-6delCTT

NM_173591.3(OTOGL):c.1369G>T (p.Val457Leu)

NM_173591.3(OTOGL):c.3228T>C (p.Thr1076=)

NM_000257.3(MYH7):c.4402G>C (p.Glu1468Gln)

NM_006329.3(FBLN5):c.620-8T>C

NM_001040113.1(MYH11):c.3501C>T (p.Asp1167=)

NM_005548.2(KARS):c.5C>T (p.Ala2Val)

NM_016239.3(MYO15A):c.5870C>A (p.Ser1957Tyr)

NM_016239.3(MYO15A):c.8088+5C>G

NM_173477.4(USH1G):c.-8C>T

NM_017950.3(CCDC40):c.1466G>T (p.Ser489Ile)

NM_003803.3(MYOM1):c.65T>G (p.Val22Gly)

NM_003803.3(MYOM1):c.-9G>A

NM_144612.6(LOXHD1):c.*4G>A

NM_207034.2(EDN3):c.208G>A (p.Ala70Thr)

NM_001039141.2(TRIOBP):c.5891G>A (p.Arg1964His)

NM_014332.2(SMPX):c.182A>G (p.Lys61Arg)

NM_000260.3(MYO7A):c.3451C>G (p.Leu1151Val)

NM_000179.2(MSH6):c.2963G>A (p.Arg988His)

NM_000179.2(MSH6):c.3350G>A (p.Cys1117Tyr)

NM_000249.3(MLH1):c.-33T>G

NM_000249.3(MLH1):c.169A>C (p.Lys57Gln)

NM_001999.3(FBN2):c.3469A>G (p.Met1157Val)

NM_006158.4(NEFL):c.1588G>T (p.Val530Phe)

NM_000314.6(PTEN):c.-1290C>T

NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)

NM_000059.3(BRCA2):c.425+2T>C

NM_001005360.2(DNM2):c.2365C>G (p.Pro789Ala)

NM_007194.3(CHEK2):c.1154G>T (p.Cys385Phe)

NM_000052.6(ATP7A):c.3863A>G (p.Gln1288Arg)

NM_000251.2(MSH2):c.183G>T (p.Gln61His)

NM_000179.2(MSH6):c.853A>T (p.Ser285Cys)

NM_000249.3(MLH1):c.-205G>C

NM_000038.5(APC):c.2719G>A (p.Gly907Arg)

NM_000059.3(BRCA2):c.1909+1200T>C

NM_000059.3(BRCA2):c.8633-838_8633-835dup

NM_001128425.1(MUTYH):c.1187-32_1199del45

NM_020166.4(MCCC1):c.980C>G (p.Ser327Ter)

NM_000094.3(COL7A1):c.7865G>A (p.Arg2622Gln)

NM_001182.4(ALDH7A1):c.312+1G>A

NM_001069.2(TUBB2A):c.533C>T (p.Thr178Met)

NM_000168.5(GLI3):c.241G>A (p.Glu81Lys)

NM_000127.2(EXT1):c.1019G>A (p.Arg340His)

NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter)

NM_000197.1(HSD17B3):c.845C>T (p.Pro282Leu)

NM_001613.2(ACTA2):c.535C>T (p.Arg179Cys)

NM_000051.3(ATM):c.193C>T (p.Gln65Ter)

NM_004360.4(CDH1):c.1320+1G>C

NM_004483.4(GCSH):c.1A>G (p.Met1Val)

NM_000088.3(COL1A1):c.1405C>T (p.Arg469Ter)

NM_005918.3(MDH2):c.620C>T (p.Pro207Leu)

NM_174936.3(PCSK9):c.657+76C>A

NM_000384.2(APOB):c.403A>G (p.Ile135Val)

NM_206933.2(USH2A):c.5516T>A (p.Val1839Glu)

NM_022552.4(DNMT3A):c.895A>C (p.Lys299Gln)

NM_198428.2(BBS9):c.223C>T (p.Arg75Ter)

NM_000059.3(BRCA2):c.723delG (p.Asn243Metfs)

NM_000059.3(BRCA2):c.919_920insT (p.Ser307Metfs)

NM_000059.3(BRCA2):c.6410delA (p.Asn2137Metfs)

NM_000059.3(BRCA2):c.7974C>A (p.Tyr2658Ter)

NM_000059.3(BRCA2):c.8518delA (p.Ile2840Tyrfs)

NM_007294.3(BRCA1):c.3331delC (p.Gln1111Lysfs)

NM_007294.3(BRCA1):c.2823delT (p.Asn941Lysfs)

NM_007294.3(BRCA1):c.2387dupC (p.Glu797Argfs)

NM_007294.3(BRCA1):c.1953delG (p.Lys654Serfs)

NM_007294.3(BRCA1):c.1327_1345del19 (p.Lys443Profs)

NM_001655.4(ARCN1):c.260C>A (p.Ser87Ter)

NM_022068.3(PIEZO2):c.3655G>A (p.Val1219Met)

NM_016035.4(COQ4):c.202G>C (p.Asp68His)

NM_017780.3(CHD7):c.1006A>G (p.Asn336Asp)

NM_000059.3(BRCA2):c.8633-?_8754+?dup

NM_000059.3(BRCA2):c.5616delA (p.Val1873Terfs)

NM_007294.3(BRCA1):c.5407-?_5467+?del

NM_007294.3(BRCA1):c.135-?_4185+?del

NM_007294.3(BRCA1):c.4674delA (p.Glu1559Argfs)

NP_006078.2:p.M300I

46;XX;t(1;5)(p31;q33)dn

46;XX;inv(7)(q11.23q36.3)dn

46;XX;t(1;13)(q11.2;p11.2)dn

46;XY;t(10;11)(q24.3;q21)

46;XY;t(2;10)(p15;p14)dn

NM_002693.2(POLG):c.924G>T (p.Gln308His)

NM_001151.3(SLC25A4):c.707G>C (p.Arg236Pro)

NM_002524.4(NRAS):c.182A>C (p.Gln61Pro)

NM_001457.3(FLNB):c.6497C>T (p.Thr2166Met)

NM_006059.3(LAMC3):c.146A>G (p.Gln49Arg)

NM_000052.6(ATP7A):c.2570C>T (p.Pro857Leu)

NM_013319.2(UBIAD1):c.*1265T>A

NM_138959.2(VANGL1):c.*1772A>G

NM_002524.4(NRAS):c.*3366G>T

NM_003126.2(SPTA1):c.1691G>A (p.Arg564Gln)

NM_003126.2(SPTA1):c.4637A>G (p.His1546Arg)

NM_000702.3(ATP1A2):c.*1780G>A

NM_000130.4(F5):c.5490G>A (p.Leu1830=)

NM_003001.3(SDHC):c.*624A>G

NM_000130.4(F5):c.1034G>A (p.Arg345Gln)

NM_152281.2(GORAB):c.*1160G>A

NM_006996.2(SLC19A2):c.205-14dupT

NM_002065.6(GLUL):c.*2644G>C

NM_003126.2(SPTA1):c.*127_*132delTGTGTG

NM_000433.3(NCF2):c.1084G>A (p.Val362Ile)

NM_002241.4(KCNJ10):c.*2596A>G

NM_000702.3(ATP1A2):c.1572G>A (p.Glu524=)

NM_002857.3(PEX19):c.181-4G>T

NM_004550.4(NDUFS2):c.1354+10C>A

NM_031935.2(HMCN1):c.7212A>G (p.Val2404=)

NM_004431.4(EPHA2):c.1380G>A (p.Pro460=)

NM_006182.2(DDR2):c.2253C>T (p.Ile751=)

NM_005149.2(TBX19):c.*26C>G

NM_022089.3(ATP13A2):c.2331C>T (p.His777=)

NM_000639.2(FASLG):c.176C>T (p.Pro59Leu)

NM_032409.2(PINK1):c.*538_*541dupAAGT

NM_018122.4(DARS2):c.*210T>C

NM_000228.2(LAMB3):c.3068G>A (p.Arg1023Gln)

NM_031955.5(SPATA16):c.848+15delA

NM_020166.4(MCCC1):c.639+13A>G

NM_015560.2(OPA1):c.*2391T>C

NM_003242.5(TGFBR2):c.1525-10C>G

NM_001106.3(ACVR2B):c.210C>T (p.Ile70=)

NM_018075.4(ANO10):c.*447G>A

NM_005787.5(ALG3):c.19A>C (p.Lys7Gln)

NM_020208.3(SLC6A20):c.654C>T (p.His218=)

NM_002056.3(GFPT1):c.*1869A>G

NM_000461.4(THRB):c.*3915delA

NM_024513.3(FYCO1):c.*2060C>A

NM_003494.3(DYSF):c.462A>G (p.Thr154=)

NM_006371.4(CRTAP):c.1022A>G (p.His341Arg)

NM_000821.6(GGCX):c.*470G>A

NM_013247.4(HTRA2):c.*513T>A

NM_198056.2(SCN5A):c.*1969C>T

NM_198843.2(SFTPB):c.*813T>A

NM_016006.4(ABHD5):c.-19C>T

NM_052859.3(RFT1):c.-1T>C

NM_017849.3(TMEM127):c.*3569C>T

NM_020184.3(CNNM4):c.2255T>G (p.Val752Gly)

NM_017849.3(TMEM127):c.*674dupC

NM_001457.3(FLNB):c.792C>T (p.Ile264=)

NM_016006.4(ABHD5):c.*2463A>G

NM_000925.3(PDHB):c.*99C>T

NM_016247.3(IMPG2):c.*4060C>A

NM_001298.2(CNGA3):c.-406C>T

NM_033084.4(FANCD2):c.3351C>T (p.Tyr1117=)

NM_020754.3(ARHGAP31):c.-40G>A

NM_198196.2(CD96):c.*1553C>T

NM_177924.4(ASAH1):c.*184T>A

NM_004385.4(VCAN):c.5615C>T (p.Pro1872Leu)

NM_004385.4(VCAN):c.*835G>A

NM_002890.2(RASA1):c.3029G>A (p.Arg1010Gln)

NM_000439.4(PCSK1):c.*826delA

NM_007214.4(SEC63):c.*3171G>C

NM_001491.2(GCNT2):c.*1317G>A

NM_018105.2(THAP1):c.*297A>G

NM_014028.3(OSTM1):c.*177A>G

NM_007214.4(SEC63):c.*861A>G

NM_017813.4(IMPAD1):c.*2288G>A

NM_024596.4(MCPH1):c.114+6A>G

NM_024596.4(MCPH1):c.*181C>G

NM_001010892.2(RSPH4A):c.*436A>C

NM_006208.2(ENPP1):c.*4346T>A

NM_018972.2(GDAP1):c.*2737_*2740dupAAAA

NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe)

NM_018444.3(PDP1):c.*1661delT

NM_000288.3(PEX7):c.316G>C (p.Val106Leu)

NM_000168.5(GLI3):c.-83C>T

NM_005228.4(EGFR):c.3015A>G (p.Glu1005=)

NM_000177.4(GSN):c.934G>A (p.Val312Ile)

NM_000501.3(ELN):c.*429C>T

NM_182548.3(LHFPL5):c.*480_*481insCA

NM_014908.3(DOLK):c.-394A>G

NM_054012.3(ASS1):c.515C>T (p.Pro172Leu)

NM_139025.4(ADAMTS13):c.2732-8C>T

NM_006502.2(POLH):c.*2692G>A

NM_006412.3(AGPAT2):c.*239G>A

NM_012120.2(CD2AP):c.553G>T (p.Ala185Ser)

NM_152732.4(RSPH9):c.598A>G (p.Thr200Ala)

NM_020745.3(AARS2):c.1569C>T (p.Ser523=)

NM_016952.4(CDON):c.2429C>G (p.Ser810Cys)

NM_000890.3(KCNJ5):c.-294_-293insGAGA

NM_000136.2(FANCC):c.*2085C>A

NM_181507.1(HPS5):c.*1023T>G

NM_213599.2(ANO5):c.*2274A>G

NM_000264.3(PTCH1):c.*2644A>C

NM_000264.3(PTCH1):c.1120G>A (p.Glu374Lys)

NM_014290.2(TDRD7):c.1445A>G (p.Tyr482Cys)

NM_000257.3(MYH7):c.4410G>A (p.Ser1470=)

NM_000536.3(RAG2):c.*72T>C

NM_002408.3(MGAT2):c.-350C>G

NM_001202.5(BMP4):c.*148A>T

NM_000161.2(GCH1):c.297C>T (p.Ala99=)

NM_000347.5(SPTB):c.*182G>A

NM_001081.3(CUBN):c.5131G>A (p.Ala1711Thr)

NM_015346.3(ZFYVE26):c.4338A>T (p.Ile1446=)

NM_201590.2(CACNB2):c.*2016T>C

NM_000021.3(PSEN1):c.*3525A>G

NM_031427.3(DNAL1):c.*4809T>A

NM_000124.3(ERCC6):c.*755A>G

NM_145200.3(CABP4):c.53G>A (p.Arg18His)

NM_201590.2(CACNB2):c.*15dupT

NM_018319.3(TDP1):c.1317+11G>A

NM_017433.4(MYO3A):c.3398+3A>G

NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=)

NM_014915.2(ANKRD26):c.*566G>T

NM_000295.4(SERPINA1):c.-98delC

NM_014915.2(ANKRD26):c.-138C>G

NM_139057.3(ADAMTS17):c.1720C>T (p.Pro574Ser)

NM_021252.4(RAB18):c.454G>A (p.Ala152Thr)

NM_002420.5(TRPM1):c.*29dupT

NM_133647.1(SLC12A6):c.*1568G>A

NM_018648.3(NOP10):c.*31C>T

NM_152594.2(SPRED1):c.707A>G (p.His236Arg)

NM_000875.4(IGF1R):c.*5790delA

NM_004862.3(LITAF):c.*193G>A

NM_001287.5(CLCN7):c.*797G>T

NM_001143979.1(NDE1):c.947+6531C>A

NM_001143979.1(NDE1):c.*863C>G

NM_003361.3(UMOD):c.*226_*229delCTTA

NM_001089.2(ABCA3):c.3195G>A (p.Leu1065=)

NM_153603.3(COG7):c.1178A>G (p.His393Arg)

NM_001083614.1(EARS2):c.*917C>T

NM_001042432.1(CLN3):c.-77+14G>T

NM_014588.5(VSX1):c.*749C>T

NM_001042472.2(ABHD12):c.543-13T>C

NM_020312.3(COQ9):c.*565G>T

NM_021914.7(CFL2):c.312-7delT

NM_020937.3(FANCM):c.926A>C (p.Glu309Ala)

NM_021615.4(CHST6):c.*4470C>T

NM_182914.2(SYNE2):c.2646+6A>T

NM_182914.2(SYNE2):c.9404A>G (p.Lys3135Arg)

NM_000303.2(PMM2):c.447+4C>T

NM_001127464.2(ZNF469):c.*1348G>A

NM_002382.4(MAX):c.*942C>T

NM_000485.2(APRT):c.90G>T (p.Ser30=)

NM_152443.2(RDH12):c.*155C>T

NM_000135.2(FANCA):c.*385C>G

NM_000411.6(HLCS):c.*1756C>T

NM_031427.3(DNAL1):c.*1824G>A

NM_000211.4(ITGB2):c.28G>A (p.Ala10Thr)

NM_001848.2(COL6A1):c.*182A>G

NM_000528.3(MAN2B1):c.2562C>G (p.Ala854=)

NM_177986.4(DSG4):c.259A>C (p.Ile87Leu)

NM_001943.4(DSG2):c.*944delA

NM_000487.5(ARSA):c.*625G>A

NM_000435.2(NOTCH3):c.1760G>A (p.Arg587His)

NM_080632.2(UPF3B):c.*618G>A

NM_015559.2(SETBP1):c.*919A>G

NM_000453.2(SLC5A5):c.*277T>C

NM_017653.3(DYM):c.-309G>C

NM_002351.4(SH2D1A):c.*203delA

NM_004840.2(ARHGEF6):c.*1817dupT

NM_001031726.3(C19orf12):c.*1114C>G

NM_014270.4(SLC7A9):c.522C>T (p.Ser174=)

NM_000084.4(CLCN5):c.*5349delA

NM_001130823.2(DNMT1):c.1932C>T (p.Phe644=)

NM_006563.4(KLF1):c.*277C>T

NM_000435.2(NOTCH3):c.*845G>T

NM_173483.3(CYP4F22):c.*450C>A

NM_001031726.3(C19orf12):c.*3492G>T

NM_030957.3(ADAMTS10):c.1900+11G>C

NM_018848.3(MKKS):c.-21C>G

NM_000285.3(PEPD):c.744T>C (p.Gly248=)

NM_004646.3(NPHS1):c.3166+14C>A

NM_024411.4(PDYN):c.-286G>C

NM_032753.3(RAX2):c.*679C>T

NM_000361.2(THBD):c.40G>A (p.Gly14Ser)

NM_000540.2(RYR1):c.7053T>C (p.Asn2351=)

NM_001001433.2(STX16):c.-534C>G

NM_000933.3(PLCB4):c.2822C>A (p.Ser941Tyr)

NM_000484.3(APP):c.1664C>T (p.Ala555Val)

NM_178817.3(MRAP):c.446A>G (p.Asn149Ser)

NM_006949.3(STXBP2):c.321C>T (p.Thr107=)

NM_020639.2(RIPK4):c.271C>A (p.Pro91Thr)

NM_000071.2(CBS):c.924C>T (p.Tyr308=)

NM_130445.3(COL18A1):c.2032-6C>T

NM_006657.2(FTCD):c.571G>A (p.Gly191Ser)

NM_014339.6(IL17RA):c.*1067G>A

NM_014339.6(IL17RA):c.*3383_*3384delTT

NM_002591.3(PCK1):c.873C>T (p.Thr291=)

NM_025219.2(DNAJC5):c.*3995A>G

NM_015192.3(PLCB1):c.*1409A>G

NM_002473.5(MYH9):c.1899C>T (p.Pro633=)

NM_000219.5(KCNE1):c.*2000C>T

NM_001754.4(RUNX1):c.*2320T>G

NM_144492.2(CLDN14):c.*107G>A

NM_000411.6(HLCS):c.-471A>G

NM_001080449.2(DNA2):c.295T>C (p.Leu99=)

NM_000077.4(CDKN2A):c.-19550G>A

NM_000051.3(ATM):c.3077+13T>A

NM_024740.2(ALG9):c.790-11C>T

NM_016042.3(EXOSC3):c.430T>C (p.Leu144=)

NM_001003800.1(BICD2):c.1806G>A (p.Thr602=)

NM_004183.3(BEST1):c.1344G>A (p.Lys448=)

NM_024678.5(NARS2):c.899A>G (p.Lys300Arg)

NM_030962.3(SBF2):c.993G>A (p.Leu331=)

NM_000277.1(PAH):c.901C>A (p.Gln301Lys)

NM_000314.6(PTEN):c.253+14T>A

NM_000051.3(ATM):c.6099A>G (p.Leu2033=)

NM_006231.3(POLE):c.6136+20T>A

NM_000051.3(ATM):c.8787-15T>C

NM_152416.3(NDUFAF6):c.478-4G>T

NM_000051.3(ATM):c.2505A>G (p.Val835=)

NM_014754.2(PTDSS1):c.421A>G (p.Thr141Ala)

NM_005002.4(NDUFA9):c.588G>A (p.Pro196=)

NM_000256.3(MYBPC3):c.851+18C>T

NM_001876.3(CPT1A):c.693C>T (p.Tyr231=)

NM_032790.3(ORAI1):c.786T>C (p.Val262=)

NM_020822.2(KCNT1):c.1620-16C>G

NM_000059.3(BRCA2):c.1533A>G (p.Ser511=)

NM_000053.3(ATP7B):c.3243+5G>A

NM_000719.6(CACNA1C):c.3087C>A (p.Ile1029=)

NM_006231.3(POLE):c.2178C>T (p.Tyr726=)

NM_000136.2(FANCC):c.456+20C>T

NM_003276.2(TMPO):c.1229A>G (p.Lys410Arg)

NM_024537.3(CARS2):c.1608C>T (p.His536=)

NM_024537.3(CARS2):c.1417-17C>T

NM_002755.3(MAP2K1):c.693+4T>G

NM_194279.3(ISCA2):c.-6A>C

NM_001909.4(CTSD):c.*4C>G

NM_000138.4(FBN1):c.2945G>C (p.Cys982Ser)

NM_024678.5(NARS2):c.-32C>T

NM_133647.1(SLC12A6):c.1164C>T (p.Asp388=)

NM_021098.2(CACNA1H):c.2708G>A (p.Arg903His)

NM_012213.2(MLYCD):c.-36G>T

NM_001256850.1(TTN):c.80000A>C (p.Gln26667Pro)

NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)

NM_001256850.1(TTN):c.89700C>T (p.Tyr29900=)

NM_133378.4(TTN):c.90155C>T (p.Ala30052Val)

TTN:c.101766G>C (p.Gln33922His)

NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)

NM_133379.4(TTN):c.11849T>C (p.Ile3950Thr)

NM_001256850.1(TTN):c.10361-4498G>A

NM_133432.3(TTN):c.13145G>A (p.Gly4382Asp)

NM_144573.3(NEXN):c.1453G>A (p.Glu485Lys)

NM_144612.6(LOXHD1):c.4868A>G (p.Glu1623Gly)

NM_153676.3(USH1C):c.2184+12C>T

NM_198056.2(SCN5A):c.1967C>T (p.Pro656Leu)

NM_206933.2(USH2A):c.10232A>C (p.Glu3411Ala)

NM_001029883.2(C2orf71):c.556C>T (p.Gln186Ter)

NM_198488.3(FAM83H):c.1408C>T (p.Gln470Ter)

NM_052859.3(RFT1):c.199C>T (p.Arg67Cys)

NM_014706.3(SART3):c.1771G>A (p.Val591Met)

CA2, IVS5AS, G-C, -1

NM_001031710.2(KLHL7):c.449G>A (p.Ser150Asn)

NM_139241.3(FGD4):c.1762-2A>G

NM_020223.3(FAM20C):c.957-3C>G

NM_015559.2(SETBP1):c.2608G>A (p.Gly870Ser)

NM_001039141.2(TRIOBP):c.889C>T (p.Gln297Ter)

NM_000132.3(F8):c.1417T>C (p.Tyr473His)

NM_000132.3(F8):c.6046C>T (p.Arg2016Trp)

GJB1, 21-BP DUP

NM_000202.7(IDS):c.1425G>A (p.Trp475Ter)

PHKA2, 6-BP INS, NT3331

F9, IVS7AS, G-A

F9, EX1-8DEL

NM_031407.6(HUWE1):c.8942G>A (p.Arg2981His)

NM_000169.2(GLA):c.835C>G (p.Gln279Glu)

NM_000169.2(GLA):c.1095T>A (p.Tyr365Ter)

NM_033290.3(MID1):c.884T>C (p.Leu295Pro)

NM_000276.3(OCRL):c.2530C>T (p.Arg844Ter)

SH2D1A, IVS2AS, G-T, -1

FOXP3, 2-BP DEL, 1481CT

NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter)

NM_001011658.3(TRAPPC2):c.248T>C (p.Phe83Ser)

FHL1, 9-BP DEL, NT451

NM_005491.4(MAMLD1):c.2176C>T (p.Arg726Ter)

RPS6KA3, 1-BP DEL, 2144C

NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter)

NM_001110556.1(FLNA):c.116C>G (p.Ala39Gly)

MECP2, IVS2, A-G, -2

NM_000137.2(FAH):c.401C>A (p.Ala134Asp)

NM_000203.4(IDUA):c.1096A>C (p.Thr366Pro)

NM_000108.4(DLD):c.685G>T (p.Gly229Cys)

NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys)

F7, CYS310PHE

NM_000204.4(CFI):c.1253A>T (p.His418Leu)

NM_000500.7(CYP21A2):c.1217G>A (p.Trp406Ter)

NM_001025366.2(VEGFA):c.-94C>G

NM_001849.3(COL6A2):c.1855_1860delGTCATC (p.Val619_Ile620del)

NM_007294.3(BRCA1):c.2864_2865insT (p.Ser956Ilefs)

NM_007294.3(BRCA1):c.3825dupA (p.Leu1276Ilefs)

NM_007294.3(BRCA1):c.4675+7T>C

NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter)

NM_007294.3(BRCA1):c.988G>A (p.Asp330Asn)

NM_000059.3(BRCA2):c.1832C>A (p.Ser611Ter)

NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val)

NM_000059.3(BRCA2):c.396T>A (p.Cys132Ter)

NM_000059.3(BRCA2):c.476-1G>A

NM_000059.3(BRCA2):c.5577delT (p.Val1862Terfs)

NM_000059.3(BRCA2):c.6215C>G (p.Ser2072Cys)

NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly)

NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys)

NM_000059.3(BRCA2):c.8754+2T>G

NM_000059.3(BRCA2):c.9320T>C (p.Ile3107Thr)

NM_000155.3(GALT):c.998G>A (p.Arg333Gln)

NM_000060.4(BTD):c.184G>A (p.Val62Met)

NM_002437.4(MPV17):c.206G>A (p.Trp69Ter)

NM_014252.3(SLC25A15):c.847C>T (p.Leu283Phe)

NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs)

NM_000495.4(COL4A5):c.4280G>C (p.Gly1427Ala)

NM_001039958.1(MESP2):c.241G>T (p.Gly81Ter)

NM_001363.4(DKC1):c.949C>T (p.Leu317Phe)

NM_016938.4(EFEMP2):c.1189G>A (p.Ala397Thr)

NM_024312.4(GNPTAB):c.2715+2T>G

NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys)

NM_198578.3(LRRK2):c.3494T>C (p.Leu1165Pro)

NM_198578.3(LRRK2):c.5822G>A (p.Arg1941His)

NM_207352.3(CYP4V2):c.64C>G (p.Leu22Val)

USH1C, IVS16AS, G-T, -1

NM_001567.3(INPPL1):c.2164T>A (p.Phe722Ile)

NM_000059.3(BRCA2):c.8332-64A>G

NM_000059.3(BRCA2):c.8487+4T>C

NM_000059.3(BRCA2):c.8673_8674delAA (p.Arg2892Thrfs)

NM_000059.3(BRCA2):c.8946delA (p.Asp2983Ilefs)

NM_000059.3(BRCA2):c.9117+9C>T

NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter)

NM_000059.3(BRCA2):c.9502-71G>T

NM_000059.3(BRCA2):c.9868delG (p.Val3290Phefs)

NM_000218.2(KCNQ1):c.1111G>A (p.Ala371Thr)

NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg)

NM_000218.2(KCNQ1):c.521G>A (p.Arg174His)

NM_000218.2(KCNQ1):c.815G>A (p.Gly272Asp)

NM_000492.3(CFTR):c.1006_1007insG (p.Ile336Serfs)

NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter)

NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter)

NM_000492.3(CFTR):c.165-3C>A

NM_000492.3(CFTR):c.1738delG (p.Val580Phefs)

NM_000492.3(CFTR):c.1966G>T (p.Glu656Ter)

NM_000492.3(CFTR):c.2286G>T (p.Gln762His)

NM_000492.3(CFTR):c.2600T>A (p.Leu867Ter)

NM_000492.3(CFTR):c.2808A>G (p.Pro936=)

NM_000492.3(CFTR):c.2T>C (p.Met1Thr)

NM_000492.3(CFTR):c.3189G>A (p.Trp1063Ter)

NM_000492.3(CFTR):c.3367+2T>C

NM_000492.3(CFTR):c.3592delG (p.Val1198Terfs)

NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg)

NM_000492.3(CFTR):c.4042delC (p.His1348Metfs)

NM_000492.3(CFTR):c.4242+1G>T

NM_007294.3(BRCA1):c.2450delG (p.Gly817Valfs)

NM_007294.3(BRCA1):c.2632G>A (p.Ala878Thr)

NM_007294.3(BRCA1):c.2761C>T (p.Gln921Ter)

NM_007294.3(BRCA1):c.2929_2930dupCC (p.Tyr978Hisfs)

NM_007294.3(BRCA1):c.3122C>G (p.Ser1041Ter)

NM_007294.3(BRCA1):c.3292_3293delCT (p.Leu1098Serfs)

NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile)

NM_007294.3(BRCA1):c.3583delC (p.His1195Ilefs)

NM_007294.3(BRCA1):c.3844delG (p.Glu1282Asnfs)

NM_007294.3(BRCA1):c.4026A>G (p.Ser1342=)

NM_007294.3(BRCA1):c.4184A>G (p.Gln1395Arg)

NM_007294.3(BRCA1):c.4357+1G>T

NM_007294.3(BRCA1):c.4574_4575delAA (p.Gln1525Argfs)

NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser)

NM_007294.3(BRCA1):c.4952C>T (p.Ser1651Phe)

NM_007294.3(BRCA1):c.5075-2A>T

NM_007294.3(BRCA1):c.5153-1G>T

NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter)

NM_007294.3(BRCA1):c.5333-1G>A

NM_007294.3(BRCA1):c.5449G>T (p.Glu1817Ter)

NM_007294.3(BRCA1):c.556T>G (p.Ser186Ala)

NM_007294.3(BRCA1):c.742dupA (p.Thr248Asnfs)

NM_007294.3(BRCA1):c.848T>G (p.Leu283Ter)

NM_002834.4(PTPN11):c.1517_1518delAGinsCC (p.Gln506Pro)

NM_006012.2(CLPP):c.433A>C (p.Thr145Pro)

NM_000027.3(AGA):c.373_376delACAC (p.Thr125Phefs)

NM_000111.2(SLC26A3):c.332delT (p.Phe111Serfs)

NM_000170.2(GLDC):c.1654A>G (p.Met552Val)

NM_000170.2(GLDC):c.513G>C (p.Gly171=)

NM_001126105.2(SLC7A7):c.1381_1384dupATCA (p.Arg462Asnfs)

NM_004260.3(RECQL4):c.3271C>T (p.Gln1091Ter)

NM_004646.3(NPHS1):c.2043G>T (p.Trp681Cys)

NM_004646.3(NPHS1):c.515_517delCCA (p.Thr172del)

NM_012434.4(SLC17A5):c.983G>A (p.Gly328Glu)

NM_000090.3(COL3A1):c.2212G>T (p.Gly738Cys)

NP_000081.1:p.Gly762_Glu1175del

NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser)

NG_031909.1:g.(12232_26209)_(29173_47048)del

NM_000277.1(PAH):c.1012G>T (p.Asp338Tyr)

NM_000277.1(PAH):c.1099dupC (p.Leu367Profs)

NM_000277.1(PAH):c.1237C>T (p.Arg413Cys)

NM_000277.1(PAH):c.205C>T (p.Pro69Ser)

NM_000277.1(PAH):c.452A>G (p.Asp151Gly)

NM_000277.1(PAH):c.556delA (p.Thr186Hisfs)

NM_000277.1(PAH):c.688G>A (p.Val230Ile)

NM_000277.1(PAH):c.791A>T (p.His264Leu)

NM_000277.1(PAH):c.895_897delTTT (p.Phe299del)

NM_001282358.1(NLRX1):c.-462G>A

NM_000246.3(CIITA):c.1684G>A (p.Ala562Thr)

NM_001079821.2(NLRP3):c.403+42T>C

NM_006092.2(NOD1):c.2201+36C>T

NM_024618.3(NLRX1):c.2579G>A (p.Arg860Gln)

NM_032206.4(NLRC5):c.4322+98A>G

NM_138329.2(NLRP6):c.2662C>G (p.Leu888Val)

NM_153447.4(NLRP5):c.565+114G>T

NM_176822.3(NLRP14):c.2066C>G (p.Ala689Gly)

NM_000416.2(IFNGR1):c.85+18A>C

NM_003264.4(TLR2):c.265A>G (p.Asn89Asp)

NM_017637.5(BNC2):c.171G>T (p.Gln57His)

NM_000277.1(PAH):c.591G>C (p.Leu197Phe)

NM_033419.4(PGAP3):c.275G>A (p.Gly92Asp)

NM_007294.3(BRCA1):c.1440_1441insA (p.Leu481Thrfs)

NM_007294.3(BRCA1):c.139dupT (p.Cys47Leufs)

NM_007294.3(BRCA1):c.4675+31C>G

Q2829Q

NM_000038.5(APC):c.2413C>T (p.Arg805Ter)

NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn)

NM_000051.3(ATM):c.4087A>G (p.Thr1363Ala)

NM_000051.3(ATM):c.6974C>T (p.Ala2325Val)

NM_000057.3(BLM):c.2119C>T (p.Pro707Ser)

NM_000136.2(FANCC):c.1374A>C (p.Arg458Ser)

NM_000179.2(MSH6):c.3232G>C (p.Val1078Leu)

NM_000251.2(MSH2):c.1709A>G (p.Tyr570Cys)

NM_000314.6(PTEN):c.79+7A>G

NM_000465.3(BARD1):c.623dupA (p.Lys209Glufs)

NM_000535.6(PMS2):c.620G>A (p.Gly207Glu)

NM_002547.2(OPHN1):c.903G>C (p.Thr301=)

NM_003937.2(KYNU):c.563G>A (p.Arg188Gln)

GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3

GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3

GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x1

GRCh38/hg38 7p22.3(chr7:54185-1843584)x1

GRCh38/hg38 16p12.2(chr16:21463739-21826230)x1

GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1

NM_015506.2(MMACHC):c.276G>A (p.Glu92=)

NM_000190.3(HMBS):c.962G>A (p.Arg321His)

NM_018557.2(LRP1B):c.10187G>C (p.Cys3396Ser)

NM_013398.3(ZNF224):c.1354G>A (p.Gly452Arg)

NM_001035.2(RYR2):c.3567A>G (p.Glu1189=)

NM_031475.2(ESPN):c.1048C>T (p.Pro350Ser)

NM_144573.3(NEXN):c.1528A>G (p.Lys510Glu)

NM_001256850.1(TTN):c.100289C>G (p.Ser33430Cys)

NM_133378.4(TTN):c.92553T>C (p.Asp30851=)

NM_133378.4(TTN):c.88795T>C (p.Ser29599Pro)

NM_133378.4(TTN):c.58042C>T (p.Arg19348Trp)

NM_133378.4(TTN):c.54940A>G (p.Thr18314Ala)

NM_206933.2(USH2A):c.11822G>A (p.Arg3941Gln)

NM_001256850.1(TTN):c.87773T>C (p.Ile29258Thr)

NM_133378.4(TTN):c.80602+1G>C

NM_001256850.1(TTN):c.23569G>A (p.Val7857Met)

NM_005633.3(SOS1):c.588A>T (p.Ser196=)

NM_194248.2(OTOF):c.4799+1G>A

NM_003242.5(TGFBR2):c.1016G>C (p.Arg339Pro)

NM_003280.2(TNNC1):c.97G>A (p.Asp33Asn)

NM_021167.4(GATAD1):c.537C>G (p.Cys179Trp)

NM_032119.3(ADGRV1):c.11562C>T (p.Ala3854=)

NM_170707.3(LMNA):c.522delA (p.Ala175Profs)

NM_001035.2(RYR2):c.848+1G>A

NM_001035.2(RYR2):c.5878A>G (p.Arg1960Gly)

NM_001035.2(RYR2):c.11836G>A (p.Gly3946Ser)

NM_198056.2(SCN5A):c.5592G>T (p.Glu1864Asp)

NM_198056.2(SCN5A):c.4246-2delA

NM_198056.2(SCN5A):c.3061C>T (p.Pro1021Ser)

NM_198056.2(SCN5A):c.86C>T (p.Ala29Val)

NM_000218.2(KCNQ1):c.805G>C (p.Gly269Arg)

NM_000218.2(KCNQ1):c.1128+5G>A

NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp)

NM_002474.2(MYH11):c.4068G>A (p.Met1356Ile)

NM_001256850.1(TTN):c.100484G>A (p.Arg33495Gln)

NM_001256850.1(TTN):c.94228G>A (p.Glu31410Lys)

NM_001256850.1(TTN):c.88807G>A (p.Ala29603Thr)

NM_001256850.1(TTN):c.82897delC (p.Leu27633Trpfs)

NM_001256850.1(TTN):c.74933G>A (p.Arg24978His)

NM_001256850.1(TTN):c.67903A>T (p.Thr22635Ser)

NM_001256850.1(TTN):c.60592G>A (p.Ala20198Thr)

NM_005732.3(RAD50):c.1A>G (p.Met1Val)

NM_005732.3(RAD50):c.176C>T (p.Pro59Leu)

NM_005732.3(RAD50):c.2284C>T (p.Gln762Ter)

NM_005732.3(RAD50):c.2548C>G (p.Arg850Gly)

NM_002485.4(NBN):c.1796C>G (p.Thr599Arg)

NM_000051.3(ATM):c.829G>T (p.Glu277Ter)

NM_000051.3(ATM):c.1534A>G (p.Ile512Val)

NM_000051.3(ATM):c.2930G>A (p.Cys977Tyr)

NM_000051.3(ATM):c.4175A>G (p.Tyr1392Cys)

NM_000059.3(BRCA2):c.497A>T (p.His166Leu)

NM_000059.3(BRCA2):c.1292C>T (p.Thr431Ile)

NM_000548.4(TSC2):c.4839C>T (p.Asp1613=)

NM_024675.3(PALB2):c.1944T>C (p.Leu648=)

NM_001042492.2(NF1):c.3350G>A (p.Cys1117Tyr)

NM_058216.2(RAD51C):c.564G>T (p.Lys188Asn)

NM_000546.5(TP53):c.411G>C (p.Leu137=)

NM_000546.5(TP53):c.297C>T (p.Ser99=)

NM_005359.5(SMAD4):c.1088G>A (p.Cys363Tyr)

NM_004387.3(NKX2-5):c.334+1G>T

NM_000117.2(EMD):c.153dupC (p.Ser52Glnfs)

NM_032890.3(DISP1):c.1087A>G (p.Asn363Asp)

NC_012920.1:m.8540T>C

NM_001258221.1(KCTD1):c.58C>T (p.Pro20Ser)

NM_005334.2(HCFC1):c.1429G>A (p.Ala477Thr)

NM_000307.4(POU3F4):c.235C>T (p.Gln79Ter)

NM_000350.2(ABCA4):c.4347G>T (p.Trp1449Cys)

NM_004621.5(TRPC6):c.2142G>T (p.Thr714=)

NM_004992.3(MECP2):c.378-6C>G

NC_000003.10:g.2187318_2868274del680957

NM_176824.2(BBS7):c.1712_1713delCTinsAGA (p.Ser571Terfs)

NM_006445.3(PRPF8):c.6470T>A (p.Val2157Glu)

NM_003001.3(SDHC):c.282G>A (p.Gly94=)

NM_024529.4(CDC73):c.1193A>T (p.Gln398Leu)

NM_003738.4(PTCH2):c.1073G>A (p.Arg358His)

NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile)

NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr)

NM_004304.4(ALK):c.2149G>A (p.Glu717Lys)

NM_000251.2(MSH2):c.1130A>G (p.Gln377Arg)

NM_000179.2(MSH6):c.417A>G (p.Thr139=)

NM_000179.2(MSH6):c.2443C>A (p.Leu815Ile)

NM_015120.4(ALMS1):c.3019dupA (p.Arg1007Lysfs)

NM_000249.3(MLH1):c.1063C>T (p.Pro355Ser)

NM_198056.2(SCN5A):c.2141T>C (p.Val714Ala)

NM_004656.3(BAP1):c.177G>A (p.Arg59=)

NM_000222.2(KIT):c.2243T>C (p.Ile748Thr)

NM_000038.5(APC):c.814G>C (p.Ala272Pro)

NM_000038.5(APC):c.4650G>T (p.Glu1550Asp)

NM_198253.2(TERT):c.534C>T (p.Leu178=)

NM_003122.4(SPINK1):c.-142T>C

NM_021922.2(FANCE):c.1459A>G (p.Met487Val)

NM_138694.3(PKHD1):c.2445G>T (p.Gln815His)

NM_016203.3(PRKAG2):c.1335C>T (p.Ile445=)

NM_001277115.1(DNAH11):c.13406G>A (p.Arg4469Lys)

NM_014855.2(AP5Z1):c.329G>A (p.Arg110Gln)

NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg)

NM_022455.4(NSD1):c.5303+37C>A

NM_017838.3(NHP2):c.160+16G>C

NM_001080479.2(ARHGEF28):c.2283C>T (p.Gly761=)

NM_000493.3(COL10A1):c.80T>C (p.Met27Thr)

NM_033071.3(SYNE1):c.24832+44T>G

NM_019105.6(TNXB):c.549C>T (p.Ala183=)

NM_006567.4(FARS2):c.183C>T (p.Asp61=)

NM_004370.5(COL12A1):c.8325C>G (p.Pro2775=)

NM_020632.2(ATP6V0A4):c.1478+17A>G

NM_004456.4(EZH2):c.728+19G>C

NM_001101426.3(ISPD):c.1251+50A>G

NM_000168.5(GLI3):c.1498-44G>A

NM_000127.2(EXT1):c.1536+7G>A

NM_003235.4(TG):c.7501T>C (p.Trp2501Arg)

NM_003923.2(FOXH1):c.864T>C (p.Asn288=)

NM_020476.2(ANK1):c.1506C>T (p.Ala502=)

NM_017780.3(CHD7):c.1397C>T (p.Ser466Leu)

NM_019098.4(CNGB3):c.853-45T>C

NM_005592.3(MUSK):c.1719T>C (p.Asn573=)

NM_007171.3(POMT1):c.922-49T>G

NM_000093.4(COL5A1):c.2997C>T (p.Val999=)

NM_019892.5(INPP5E):c.1280-24C>T

NM_012144.3(DNAI1):c.1902C>T (p.His634=)

NM_004817.3(TJP2):c.1672-20C>G

NM_000136.2(FANCC):c.1155-38T>C

NM_004612.3(TGFBR1):c.1255+24G>A

NM_018055.4(NODAL):c.588C>G (p.Leu196=)

NM_012330.3(KAT6B):c.858T>C (p.Leu286=)

NM_032024.4(C10orf11):c.458C>T (p.Ser153Phe)

NM_000795.3(DRD2):c.928C>T (p.Pro310Ser)

NM_000525.3(KCNJ11):c.1095C>T (p.Arg365=)

NM_000506.4(F2):c.1233G>A (p.Pro411=)

NM_020376.3(PNPLA2):c.369C>T (p.Asp123=)

NM_024809.4(TCTN2):c.764+28G>C

NM_004985.4(KRAS):c.111+46T>G

NM_031157.3(HNRNPA1):c.133-17A>G

NM_000552.4(VWF):c.3222+31C>T

NM_025114.3(CEP290):c.2817+48A>G

NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=)

NM_020937.3(FANCM):c.5627A>G (p.Asn1876Ser)

NM_001024858.2(SPTB):c.4121A>G (p.His1374Arg)

NM_013382.5(POMT2):c.817-18G>A

NM_022067.3(VIPAS39):c.735-45A>G

NM_000153.3(GALC):c.195+19G>A

NM_000693.3(ALDH1A3):c.807G>A (p.Ala269=)

NM_000070.2(CAPN3):c.498+32A>C

NM_003659.3(AGPS):c.*4885A>G

NM_133378.4(TTN):c.60687G>A (p.Pro20229=)

NM_133378.4(TTN):c.42284T>C (p.Ile14095Thr)

NM_000090.3(COL3A1):c.284C>T (p.Pro95Leu)

NM_000393.4(COL5A2):c.*1960A>G

NM_000393.4(COL5A2):c.851C>T (p.Pro284Leu)

NM_001039348.2(EFEMP1):c.*1088A>C

NM_015910.5(WDPCP):c.*142_*145delGTTT

NM_000384.2(APOB):c.5006A>G (p.Asn1669Ser)

NM_001875.4(CPS1):c.*5G>A

NM_002056.3(GFPT1):c.*1083A>C

NM_212552.2(BOLA3):c.*31T>C

NM_002181.3(IHH):c.799C>A (p.Arg267Ser)

NM_003849.3(SUCLG1):c.590-6G>A

NM_000821.6(GGCX):c.*3370_*3372delCTT

NM_015869.4(PPARG):c.507G>A (p.Leu169=)

NM_000373.3(UMPS):c.*2410_*2412delGAG

NM_000373.3(UMPS):c.*4231A>G

NM_004637.5(RAB7A):c.*801dupA

NM_000539.3(RHO):c.152G>C (p.Gly51Ala)

NM_020754.3(ARHGAP31):c.*2764C>A

NM_032383.4(HPS3):c.*97_*98insTCACACAC

NM_020800.2(IFT80):c.897G>A (p.Val299=)

NM_001041.3(SI):c.3790G>A (p.Glu1264Lys)

NM_000174.4(GP9):c.*38C>T

NM_005025.4(SERPINI1):c.281C>T (p.Ser94Leu)

NM_004385.4(VCAN):c.7419C>T (p.Ser2473=)

NM_001491.2(GCNT2):c.*2520C>A

NM_003630.2(PEX3):c.*317_*318dupTA

NM_203395.2(IYD):c.*3A>C

NM_054027.4(ANKH):c.*5641A>G

NM_203395.2(IYD):c.*5718delA

NM_024577.3(SH3TC2):c.*10864G>A

NM_024577.3(SH3TC2):c.*8423T>C

NM_003730.4(RNASET2):c.643G>A (p.Glu215Lys)

NM_000440.2(PDE6A):c.343G>A (p.Val115Ile)

NM_198586.2(NHLRC1):c.1076T>A (p.Val359Asp)

NM_024577.3(SH3TC2):c.*2428C>T

NM_000434.3(NEU1):c.1107C>A (p.Gly369=)

NM_006929.4(SKIV2L):c.1890C>T (p.Arg630=)

NM_005211.3(CSF1R):c.*721_*724delAACA

NM_000322.4(PRPH2):c.92G>T (p.Gly31Val)

NM_203290.3(POLR1C):c.809A>T (p.Lys270Ile)

NM_014244.4(ADAMTS2):c.661C>G (p.Leu221Val)

NM_004553.4(NDUFS6):c.27G>C (p.Arg9=)

NM_002310.5(LIFR):c.-90T>C

NM_000163.4(GHR):c.1899G>A (p.Leu633=)

NM_020376.3(PNPLA2):c.*383C>T

NM_012193.3(FZD4):c.*3042A>G

NM_012193.3(FZD4):c.-262C>T

NM_153694.4(SYCP3):c.435A>G (p.Glu145=)

NM_024312.4(GNPTAB):c.703C>G (p.Pro235Ala)

NM_014425.4(INVS):c.-178G>A

NM_000399.4(EGR2):c.*456G>A

NM_000277.1(PAH):c.299A>G (p.His100Arg)

NM_080911.2(UNG):c.-51A>T

NM_022124.5(CDH23):c.9014C>T (p.Ala3005Val)

NM_005592.3(MUSK):c.2573G>A (p.Arg858His)

NM_012210.3(TRIM32):c.409C>T (p.Pro137Ser)

NM_001079802.1(FKTN):c.*3861T>C

NM_003640.4(IKBKAP):c.2370A>G (p.Glu790=)

NM_002316.3(LMX1B):c.*1106_*1107delTT

NM_000031.5(ALAD):c.-160_-159insA

NM_000550.2(TYRP1):c.*472_*475delATTA

NM_003165.3(STXBP1):c.*1464C>T

NM_007055.3(POLR3A):c.1649A>G (p.Tyr550Cys)

NM_000429.2(MAT1A):c.*736G>A

NM_002316.3(LMX1B):c.*3342T>C

NM_015046.5(SETX):c.*1368G>A

NM_015046.5(SETX):c.2216G>A (p.Gly739Glu)

NM_017641.3(KIF21A):c.-313G>A

NM_001017535.1(VDR):c.*1179delA

NM_000217.2(KCNA1):c.*234A>T

NM_000368.4(TSC1):c.*1902T>G

NM_014191.3(SCN8A):c.*2825T>A

NM_000020.2(ACVRL1):c.*499T>G

NM_002282.3(KRT83):c.1059T>C (p.Ala353=)

NM_003070.4(SMARCA2):c.1746+10C>T

NM_002451.3(MTAP):c.*259C>A

NM_002451.3(MTAP):c.*3093T>C

NM_000051.3(ATM):c.*371A>G

NM_001497.3(B4GALT1):c.*2402G>A

NM_001497.3(B4GALT1):c.892C>G (p.Leu298Val)

NM_005188.3(CBL):c.-100_-95dupGGCGGC

NM_005476.5(GNE):c.*2196dupT

NM_018979.3(WNK1):c.7021G>A (p.Gly2341Ser)

NM_133497.3(KCNV2):c.-6G>A

NM_001042413.1(GLIS3):c.2110G>A (p.Gly704Arg)

NM_001256054.2(C9orf72):c.1424G>A (p.Arg475Gln)

NM_001042413.1(GLIS3):c.-131G>A

NM_005422.2(TECTA):c.2643C>T (p.Phe881=)

NM_004170.5(SLC1A1):c.1231G>A (p.Val411Met)

NM_006918.4(SC5D):c.*313A>T

NM_004452.3(ESRRB):c.*643T>C

NM_001126106.2(SLC7A7):c.*141T>G

NM_004782.3(SNAP29):c.550A>G (p.Met184Val)

NM_000153.3(GALC):c.1642A>G (p.Thr548Ala)

NM_022081.5(HPS4):c.-585T>G

NM_000268.3(NF2):c.*354T>C

NM_000355.3(TCN2):c.-98T>G

NM_006194.3(PAX9):c.-338C>T

NM_000343.3(SLC5A1):c.*1346A>G

NM_000362.4(TIMP3):c.*2313C>A

NM_153609.3(TMPRSS6):c.1468+15C>T

NM_022098.3(XPNPEP3):c.*637C>T

NM_024105.3(ALG12):c.*276T>G

NM_015166.3(MLC1):c.*1143C>T

NM_005910.5(MAPT):c.-315C>A

NM_005910.5(MAPT):c.*1670C>T

NM_001193466.1(KANSL1):c.1491A>G (p.Pro497=)

NM_004287.4(GOSR2):c.*332A>G

NM_001011658.3(TRAPPC2):c.*490C>T

NM_000428.2(LTBP2):c.*1818C>T

NM_000338.2(SLC12A1):c.*110G>T

NM_000138.4(FBN1):c.1468+4C>A

NM_003239.4(TGFB3):c.*120C>T

NM_004863.3(SPTLC2):c.*4039T>C

NM_004580.4(RAB27A):c.*858G>A

NM_004863.3(SPTLC2):c.*1077A>T

NM_000369.2(TSHR):c.1191G>T (p.Val397=)

NM_004727.2(SLC24A1):c.2T>C (p.Met1Thr)

NM_031220.3(PITPNM3):c.*824G>T

NM_004655.3(AXIN2):c.*1016C>T

NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu)

NM_000326.4(RLBP1):c.796-7C>G

NM_001113378.1(FANCI):c.2169+12G>A

NM_144599.4(NIPA1):c.*4774G>A

NM_000875.4(IGF1R):c.*2610_*2613delAACA

NM_001005731.2(ITGB4):c.3338C>T (p.Thr1113Met)

NM_139057.3(ADAMTS17):c.*2354C>T

NM_006640.4(SEPT9):c.*45C>T

NM_001287.5(CLCN7):c.*379C>T

NM_014714.3(IFT140):c.4278G>T (p.Gly1426=)

NM_000152.4(GAA):c.531C>T (p.Asn177=)

NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter)

NM_152281.2(GORAB):c.743G>C (p.Arg248Pro)

NM_031844.2(HNRNPU):c.837_839delAGA (p.Glu279del)

NM_001165963.1(SCN1A):c.5564C>T (p.Pro1855Leu)

NM_015662.2(IFT172):c.831G>C (p.Glu277Asp)

NM_006254.3(PRKCD):c.1360G>A (p.Ala454Thr)

NM_017617.4(NOTCH1):c.4335C>G (p.Ile1445Met)

NM_001061.4(TBXAS1):c.896_901delACATCG (p.Asp299_Ile300del)

NM_000314.6(PTEN):c.140G>A (p.Arg47Lys)

NM_024531.4(SLC52A2):c.353C>A (p.Ala118Asp)

NM_032228.5(FAR1):c.1439G>A (p.Arg480His)

NM_014191.3(SCN8A):c.1613G>A (p.Arg538Lys)

NM_017882.2(CLN6):c.119C>T (p.Thr40Met)

NM_002225.3(IVD):c.832G>A (p.Val278Met)

NM_005477.2(HCN4):c.896A>G (p.Asn299Ser)

NM_018668.4(VPS33B):c.133_136delCTCAinsATCT (p.Leu45_Met46delinsIleLeu)

NM_001083962.1(TCF4):c.706C>G (p.Pro236Ala)

NM_001127221.1(CACNA1A):c.6660delTinsCCACCAC (p.His2220_Pro2221insHisHis)

NM_000267.3(NF1):c.5999delG (p.Gly2000Valfs)

NM_080647.1(TBX1):c.1176_1195dup20 (p.Glu399Glyfs)

NM_177559.2(CSNK2A1):c.239G>A (p.Arg80His)

NG_005905.2:g.160911_164110del3200

NM_006623.3(PHGDH):c.374C>T (p.Thr125Met)

NM_001376.4(DYNC1H1):c.751C>T (p.Arg251Cys)

NM_000088.3(COL1A1):c.804+1G>C

NM_000271.4(NPC1):c.1421C>T (p.Pro474Leu)

NM_139058.2(ARX):c.1579_1582delAGAC (p.Arg527Alafs)

NM_004006.2(DMD):c.5203C>A (p.Arg1735Ser)

NM_000435.2(NOTCH3):c.2118C>T (p.His706=)

NM_182914.2(SYNE2):c.16664G>T (p.Ser5555Ile)

NM_183075.2(CYP2U1):c.1396C>T (p.Arg466Ter)

NM_206933.2(USH2A):c.6883G>A (p.Gly2295Arg)

NM_014946.3(SPAST):c.1066G>A (p.Glu356Lys)

NM_000527.4(LDLR):c.2056C>G (p.Gln686Glu)

NM_175629.2(DNMT3A):c.2644C>T (p.Arg882Cys)

NM_000222.2(KIT):c.2466T>G (p.Asn822Lys)

NM_000179.2(MSH6):c.243G>T (p.Ala81=)

NM_015120.4(ALMS1):c.11871T>C (p.His3957=)

NM_000388.3(CASR):c.1750A>T (p.Lys584Ter)

NM_015120.4(ALMS1):c.1637C>T (p.Thr546Ile)

NM_000251.2(MSH2):c.2205C>A (p.Ile735=)

NM_198056.2(SCN5A):c.4203C>T (p.Asn1401=)

NM_001080522.2(CC2D2A):c.3250T>A (p.Tyr1084Asn)

NM_001135659.2(NRXN1):c.726G>A (p.Val242=)

NM_032682.5(FOXP1):c.1489C>T (p.Arg497Ter)

NM_001059.2(TACR3):c.775C>T (p.Pro259Ser)

NM_004453.3(ETFDH):c.627T>C (p.Gly209=)

NM_001151.3(SLC25A4):c.12C>A (p.His4Gln)

NM_024577.3(SH3TC2):c.936G>A (p.Ser312=)

NM_000038.5(APC):c.6579A>G (p.Lys2193=)

NM_003242.5(TGFBR2):c.1525-5T>C

NM_012208.3(HARS2):c.1092T>C (p.Tyr364=)

NM_013391.3(DMGDH):c.1364-19A>G

NM_004656.3(BAP1):c.784-14G>T

NM_002290.4(LAMA4):c.3261+7A>C

NM_002291.2(LAMB1):c.4879T>C (p.Leu1627=)

NM_024582.4(FAT4):c.6478A>G (p.Lys2160Glu)

NM_018341.2(ERMARD):c.819A>G (p.Pro273=)

NM_000038.5(APC):c.1744-19A>G

NM_004456.4(EZH2):c.1410+19A>G

NM_006904.6(PRKDC):c.8695C>T (p.Arg2899Cys)

NM_001999.3(FBN2):c.6573C>T (p.Asp2191=)

NM_022455.4(NSD1):c.1397C>G (p.Ser466Ter)

NM_001130438.2(SPTAN1):c.480C>T (p.Asp160=)

NM_000445.4(PLEC):c.5541C>T (p.Ala1847=)

NM_000445.4(PLEC):c.5059G>A (p.Ala1687Thr)

NM_000535.6(PMS2):c.1533G>T (p.Thr511=)

NM_000093.4(COL5A1):c.2580C>A (p.Pro860=)

NM_020822.2(KCNT1):c.2842-15C>T

NM_006904.6(PRKDC):c.4137C>T (p.Pro1379=)

NM_020822.2(KCNT1):c.3694G>A (p.Glu1232Lys)

NM_020975.4(RET):c.523C>T (p.Arg175Cys)

NM_000540.2(RYR1):c.12624+1597T>C

NM_000540.2(RYR1):c.14681C>T (p.Ala4894Val)

NM_000540.2(RYR1):c.493G>A (p.Gly165Arg)

NM_000540.2(RYR1):c.7124G>C (p.Gly2375Ala)

NM_000540.2(RYR1):c.9173-98T>G

NM_001199917.1(PGM3):c.975T>G (p.Asp325Glu)

NM_014159.6(SETD2):c.4839+278C>T

NM_000548.4(TSC2):c.3884-150G>A

NM_004304.4(ALK):c.808T>C (p.Phe270Leu)

NM_000038.5(APC):c.5108G>C (p.Gly1703Ala)

NM_015338.5(ASXL1):c.3083C>T (p.Ser1028Leu)

NM_006218.3(PIK3CA):c.1837G>A (p.Gly613Ser)

NM_001198.3(PRDM1):c.1222G>C (p.Ala408Pro)

NM_004260.3(RECQL4):c.2395G>A (p.Val799Met)

NM_014159.6(SETD2):c.1775C>A (p.Thr592Lys)

NM_005631.4(SMO):c.1417G>A (p.Asp473Asn)

NM_001127208.2(TET2):c.434G>A (p.Ser145Asn)

NM_000548.4(TSC2):c.1066G>C (p.Val356Leu)

NM_000553.4(WRN):c.1909C>T (p.Arg637Trp)

NM_004628.4(XPC):c.2537G>C (p.Gly846Ala)

NM_001005862.2(ERBB2):c.931+31C>T

NM_006164.4(NFE2L2):c.402+8A>G

NC_000006.10:g.(165249445_165297427)_(170688258_170899992)del

NM_000038.5(APC):c.5140G>A (p.Asp1714Asn)

NM_000051.3(ATM):c.4980C>T (p.Asn1660=)

NM_000059.3(BRCA2):c.7828G>A (p.Val2610Met)

NM_000264.3(PTCH1):c.1137C>T (p.Tyr379=)

NM_000455.4(STK11):c.1194G>A (p.Ala398=)

NM_001127500.2(MET):c.3864C>T (p.Gly1288=)

NM_002354.2(EPCAM):c.232C>G (p.Leu78Val)

NM_004360.3(CDH1):c.48+6_48+7delinsTT

NM_020975.4(RET):c.3326T>C (p.Met1109Thr)

NM_130799.2(MEN1):c.30G>T (p.Leu10=)

NM_020745.3(AARS2):c.1412G>A (p.Arg471Gln)

NM_005159.4(ACTC1):c.809-12A>G

NM_005751.4(AKAP9):c.5163-20G>A

NM_001148.4(ANK2):c.615C>T (p.Thr205=)

NM_007294.3(BRCA1):c.1227A>G (p.Val409=)

NM_058216.2(RAD51C):c.9G>C (p.Gly3=)

NM_058216.2(RAD51C):c.1062A>G (p.Ala354=)

NM_005359.5(SMAD4):c.474G>A (p.Val158=)

NM_007194.3(CHEK2):c.1453T>C (p.Trp485Arg)

NM_003922.3(HERC1):c.9748C>T (p.Arg3250Ter)

NM_000251.2(MSH2):c.174C>A (p.Phe58Leu)

NM_001127500.2(MET):c.3317A>G (p.His1106Arg)

NM_002047.3(GARS):c.236G>A (p.Arg79Gln)

NM_004629.1(FANCG):c.1747G>T (p.Glu583Ter)

NM_025137.3(SPG11):c.2877C>A (p.Cys959Ter)

NM_024675.3(PALB2):c.1316G>T (p.Gly439Val)

NM_000251.2(MSH2):c.1278_1386+1del110

NM_024334.2(TMEM43):c.*16C>T

NM_004415.3(DSP):c.3562T>C (p.Tyr1188His)

NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp)

NM_000257.3(MYH7):c.2334C>A (p.Asp778Glu)

NM_007294.3(BRCA1):c.4386dupA (p.Tyr1463Ilefs)

NM_000187.3(HGD):c.365C>T (p.Ala122Val)

NM_000441.1(SLC26A4):c.279delT (p.Ser93Argfs)

NM_000441.1(SLC26A4):c.304+2T>C

NM_000441.1(SLC26A4):c.1920G>A (p.Trp640Ter)

NM_005476.5(GNE):c.1306C>T (p.Gln436Ter)

NM_012203.1(GRHPR):c.337G>A (p.Glu113Lys)

NM_000153.3(GALC):c.908+1G>A

NM_004937.2(CTNS):c.561+1delG

NM_000151.3(G6PC):c.189G>A (p.Trp63Ter)

NM_000271.4(NPC1):c.2801G>A (p.Arg934Gln)

NM_000426.3(LAMA2):c.5563-2A>G

NM_014795.3(ZEB2):c.1966_1967delAT (p.Met656Valfs)

NM_014314.3(DDX58):c.1118A>C (p.Glu373Ala)

NM_000314.6(PTEN):c.-1087_-1062del26

NM_000314.6(PTEN):c.-836C>T

NM_003159.2(CDKL5):c.1417dupA (p.Ile473Asnfs)

NM_004168.3(SDHA):c.1549A>G (p.Lys517Glu)

ADNP, 1-BP INS, T

NM_002055.4(GFAP):c.803C>A (p.Ala268Asp)

NM_001131023.1(PEX5):c.722dupA (p.Val242Glyfs)

NM_016203.3(PRKAG2):c.488C>T (p.Pro163Leu)

NM_015404.3(WHRN):c.2193C>T (p.Ser731=)

NM_001128228.2(TPRN):c.1839_1844dupGGAGGA (p.Glu621_Gly622insGluGlu)

NM_004281.3(BAG3):c.925C>T (p.Arg309Ter)

NM_022124.5(CDH23):c.9014C>G (p.Ala3005Gly)

NM_005188.3(CBL):c.1283_1384del102 (p.Pro428_Glu461del)

NM_001277269.1(OTOG):c.2598-14G>A

NM_019887.5(DIABLO):c.291T>G (p.Ile97Met)

NM_005691.3(ABCC9):c.-14_-8delCCATATA

NM_173591.3(OTOGL):c.4119C>A (p.Pro1373=)

NM_004452.3(ESRRB):c.1196delT (p.Leu399Argfs)

NM_153700.2(STRC):c.4903G>T (p.Val1635Phe)

NM_016239.3(MYO15A):c.1185dupC (p.Glu396Argfs)

NM_016239.3(MYO15A):c.9181G>A (p.Glu3061Lys)

NM_004949.4(DSC2):c.584T>C (p.Leu195Ser)

NM_003803.3(MYOM1):c.335T>G (p.Leu112Trp)

NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys)

NM_001039876.2(SYNE4):c.819T>C (p.Cys273=)

NM_001039213.3(CEACAM16):c.1249G>C (p.Val417Leu)

NM_001145809.1(MYH14):c.2458C>T (p.Arg820Cys)

NM_002473.5(MYH9):c.*8C>T

NM_000395.2(CSF2RB):c.1954G>A (p.Val652Met)

NM_144991.2(TSPEAR):c.702C>T (p.Asn234=)

NM_002977.3(SCN9A):c.1901G>A (p.Arg634His)

NM_000179.2(MSH6):c.248C>G (p.Ala83Gly)

NM_000179.2(MSH6):c.427G>A (p.Val143Ile)

NM_000179.2(MSH6):c.2002T>C (p.Ser668Pro)

NM_000179.2(MSH6):c.2269_2270delAC (p.Thr757Profs)

NM_000179.2(MSH6):c.2434C>A (p.Leu812Ile)

NM_000179.2(MSH6):c.3946G>C (p.Gly1316Arg)

NM_000535.6(PMS2):c.1345C>G (p.Gln449Glu)

NM_000431.3(MVK):c.802A>G (p.Ile268Val)

NM_032043.2(BRIP1):c.995G>A (p.Cys332Tyr)

NM_032043.2(BRIP1):c.380-9T>C

NM_004655.3(AXIN2):c.1780G>A (p.Ala594Thr)

NM_014646.2(LPIN2):c.560C>T (p.Ser187Phe)

NM_000455.4(STK11):c.125G>A (p.Arg42Gln)

NM_000251.2(MSH2):c.-68-194G>C

NM_000251.2(MSH2):c.1889G>T (p.Gly630Val)

NM_000249.3(MLH1):c.1935C>A (p.Asn645Lys)

NM_000038.5(APC):c.2859A>G (p.Lys953=)

NM_001242896.1(DEPDC5):c.1264C>T (p.Arg422Ter)

NM_007294.3(BRCA1):c.134+3004G>A

NM_007294.3(BRCA1):c.80+1470A>T

NM_024426.4(WT1):c.136delG (p.Ala46Profs)

NM_014254.2(TMEM5):c.92delG (p.Arg31Profs)

NM_000339.2(SLC12A3):c.1849C>T (p.Gln617Ter)

NM_000059.3(BRCA2):c.1058C>G (p.Ser353Ter)

NM_000059.3(BRCA2):c.1739_1754del16 (p.Ile580Argfs)

NM_000059.3(BRCA2):c.2514delA (p.Lys838Asnfs)

NM_000059.3(BRCA2):c.3523C>T (p.Gln1175Ter)

NM_000059.3(BRCA2):c.4366G>T (p.Glu1456Ter)

NM_000059.3(BRCA2):c.5198_5199dupCC (p.Glu1734Profs)

NM_000059.3(BRCA2):c.5948delG (p.Gly1983Glufs)

NM_000059.3(BRCA2):c.6515C>A (p.Ser2172Ter)

NM_000059.3(BRCA2):c.7389_7392delTCAA (p.Asn2463Lysfs)

NM_000059.3(BRCA2):c.8160_8196dup37 (p.Asp2733Thrfs)

NM_000059.3(BRCA2):c.8777T>A (p.Leu2926Ter)

NM_000059.3(BRCA2):c.9354_9355delGT (p.Met3118Ilefs)

NM_007294.3(BRCA1):c.5502_5503dupCC (p.Arg1835Profs)

NM_007294.3(BRCA1):c.4987_5074del88 (p.Val1665Serfs)

NM_007294.3(BRCA1):c.4197delC (p.Met1400Cysfs)

NM_007294.3(BRCA1):c.3810C>A (p.Cys1270Ter)

NM_000059.3(BRCA2):c.8034_8046delGGATGACACAGCTinsA (p.Asp2679_Ala2682del)

NM_017780.3(CHD7):c.8458_8459delCT (p.Leu2820Valfs)

NM_017780.3(CHD7):c.3623T>A (p.Val1208Asp)

NM_000059.3(BRCA2):c.6899_6906dupAAGAAAAA (p.Ser2303Lysfs)

NM_000059.3(BRCA2):c.8972_9097del126 (p.Arg2991_Thr3033delinsPro)

NM_007294.3(BRCA1):c.4987-?_5152+?del

NM_007294.3(BRCA1):c.671-?_4484+?del

NM_007294.3(BRCA1):c.213-?_441+?del

NM_006087.3(TUBB4A):c.1164G>A (p.M388I)

46;XX;t(2;8)(q33.1;q24.3)dn

NM_006912.5(RIT1):c.365G>T (p.Arg122Leu)

NM_001271208.1(NEB):c.4283A>G (p.Asn1428Ser)

NM_004006.2(DMD):c.10971G>C (p.Glu3657Asp)

NM_003361.3(UMOD):c.1372G>T (p.Val458Leu)

NM_005045.3(RELN):c.361G>C (p.Gly121Arg)

NM_005529.6(HSPG2):c.4508C>T (p.Ala1503Val)

NM_004820.4(CYP7B1):c.629G>A (p.Ser210Asn)

NM_001918.3(DBT):c.*5638C>T

NM_001918.3(DBT):c.*344G>T

NM_015074.3(KIF1B):c.865-10_865-7delCCTT

NM_001854.3(COL11A1):c.107-12C>T

NM_015074.3(KIF1B):c.*3386C>T

NM_007375.3(TARDBP):c.*208G>A

NM_015074.3(KIF1B):c.*839C>T

NM_003051.3(SLC16A1):c.*739T>G

NM_013296.4(GPSM2):c.-426G>A

NM_005957.4(MTHFR):c.*2553G>A

NM_006610.3(MASP2):c.808A>C (p.Lys270Gln)

NM_002506.2(NGF):c.104C>T (p.Ala35Val)

NM_138959.2(VANGL1):c.*5633T>G

NM_152263.3(TPM3):c.*46C>T

NM_005266.6(GJA5):c.*508G>A

NM_001232.3(CASQ2):c.-218T>C

NM_022367.3(SEMA4A):c.90C>T (p.Thr30=)

NM_152263.3(TPM3):c.*4389G>T

NM_005957.4(MTHFR):c.781-12T>C

NM_001111.4(ADAR):c.*519delA

NM_000302.3(PLOD1):c.1902+9G>T

NM_000302.3(PLOD1):c.1325G>A (p.Arg442His)

NM_000309.3(PPOX):c.-88G>T

NM_001012331.1(NTRK1):c.1842C>T (p.Gly614=)

NM_014874.3(MFN2):c.*896G>C

NM_003126.2(SPTA1):c.3477+10G>C

NM_004698.2(PRPF3):c.-139G>A

NM_019032.5(ADAMTSL4):c.1985G>A (p.Gly662Glu)

NM_000449.3(RFX5):c.*1330C>T

NM_002857.3(PEX19):c.*2536A>G

NM_001643.1(APOA2):c.53-9_53-6dupTGTG

NM_004431.4(EPHA2):c.*659T>A

NM_005149.2(TBX19):c.*621_*623delCTC

NM_000298.5(PKLR):c.*893T>G

NM_003126.2(SPTA1):c.6850G>A (p.Asp2284Asn)

NM_003126.2(SPTA1):c.1308C>T (p.Leu436=)

NM_004431.4(EPHA2):c.606C>T (p.Pro202=)

NM_031935.2(HMCN1):c.15018+7T>A

NM_003001.3(SDHC):c.*1191A>T

NM_003748.3(ALDH4A1):c.1050G>C (p.Ala350=)

NM_000186.3(CFH):c.285T>C (p.Thr95=)

NM_001994.2(F13B):c.986-4T>C

NM_001005337.2(PKP1):c.*2559A>G

NM_003465.2(CHIT1):c.382C>T (p.Arg128Cys)

NM_001005337.2(PKP1):c.*63G>C

NM_032409.2(PINK1):c.*807T>C

NM_004628.4(XPC):c.1185G>A (p.Lys395=)

NM_031850.3(AGTR1):c.998A>G (p.Asn333Ser)

NM_024996.5(GFM1):c.424delG (p.Val142Serfs)

NM_002056.3(GFPT1):c.*4259C>T

NM_002354.2(EPCAM):c.-111G>A

NM_000233.3(LHCGR):c.*148T>C

NM_001135659.2(NRXN1):c.*2511G>C

NM_001135659.2(NRXN1):c.492C>T (p.Ala164=)

NM_001114636.1(FANCL):c.791-10dupT

NM_002618.3(PEX13):c.*2989_*2990delAT

NM_006302.2(MOGS):c.2032C>T (p.Arg678Trp)

NM_000461.4(THRB):c.*670A>G

NM_015175.2(NBEAL2):c.123C>G (p.Ser41=)

NM_022912.2(REEP1):c.*2371C>T

NM_000821.6(GGCX):c.*106T>G

NM_198843.2(SFTPB):c.686G>A (p.Arg229Gln)

NM_004656.3(BAP1):c.*60C>T

NM_003392.4(WNT5A):c.*3721C>T

NM_198859.3(PRICKLE2):c.*690G>A

NM_000248.3(MITF):c.*447C>A

NM_032682.5(FOXP1):c.*1100T>C

NM_002222.5(ITPR1):c.474G>A (p.Gly158=)

NM_001023570.3(IQCB1):c.1278+7C>T

NM_053025.3(MYLK):c.*1671A>T

NM_002292.3(LAMB2):c.250-14C>T

NM_053025.3(MYLK):c.4289-4C>T

NM_052859.3(RFT1):c.*1803T>A

NM_025265.3(TSEN2):c.704A>G (p.His235Arg)

NM_003392.4(WNT5A):c.*564C>T

NM_001457.3(FLNB):c.1628T>C (p.Val543Ala)

NM_032638.4(GATA2):c.*427C>T

NM_024334.2(TMEM43):c.*806A>C

NM_014382.3(ATP2C1):c.782G>A (p.Ser261Asn)

NM_032682.5(FOXP1):c.*3413_*3414dupTG

NM_153240.4(NPHP3):c.3875A>C (p.Glu1292Ala)

NM_001063.3(TF):c.119G>A (p.Ser40Asn)

NM_000532.4(PCCB):c.1199-8A>G

NM_000096.3(CP):c.1209-15T>A

NM_005677.3(COLQ):c.*1292T>G

NM_004733.3(SLC33A1):c.1525G>A (p.Gly509Ser)

NM_001184.3(ATR):c.325C>T (p.Arg109Trp)

NM_004519.3(KCNQ3):c.1737G>A (p.Thr579=)

NM_002310.5(LIFR):c.*1051C>T

NM_003235.4(TG):c.5856G>A (p.Arg1952=)

NM_002203.3(ITGA2):c.756A>C (p.Thr252=)

NM_000497.3(CYP11B1):c.*737C>T

NM_002203.3(ITGA2):c.*2999A>G

NM_001104631.1(PDE4D):c.*2653C>T

NM_006765.3(TUSC3):c.*1193A>G

NM_003719.3(PDE8B):c.*496A>G

NM_004385.4(VCAN):c.*1266G>C

NM_006129.4(BMP1):c.421G>A (p.Gly141Arg)

NM_006158.4(NEFL):c.*1100C>T

NM_005068.2(SIM1):c.-200delT

NM_002890.2(RASA1):c.*572C>A

NM_020381.3(PDSS2):c.276C>T (p.His92=)

NM_007214.4(SEC63):c.*2811C>T

NM_007214.4(SEC63):c.2134T>C (p.Leu712=)

NM_000035.3(ALDOB):c.-1C>T

NM_033071.3(SYNE1):c.21570A>C (p.Arg7190=)

NM_005502.3(ABCA1):c.*395T>A

NM_003764.3(STX11):c.*1793A>C

NM_033071.3(SYNE1):c.12352G>A (p.Val4118Met)

NM_033071.3(SYNE1):c.3521T>C (p.Val1174Ala)

NM_203395.2(IYD):c.*2057G>A

NM_153033.4(KCTD7):c.-145C>G

NM_000177.4(GSN):c.1666G>A (p.Gly556Arg)

NM_004562.2(PRKN):c.*2492A>G

NM_000941.2(POR):c.*240C>T

NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys)

NM_080680.2(COL11A2):c.*119G>A

NM_001080.3(ALDH5A1):c.*2400G>C

NM_000113.2(TOR1A):c.*812C>G

NM_001145717.1(PNPLA1):c.*426T>C

NM_054012.3(ASS1):c.*225_*228delTTAA

NM_000368.4(TSC1):c.*3543C>A

NM_005943.5(MOCS1):c.*1301_*1305dupTCCTG

NM_001715.2(BLK):c.-165G>T

NM_002098.5(GUCA1B):c.*205T>C

NM_000127.2(EXT1):c.-667C>G

NM_006502.2(POLH):c.*3416G>C

NM_138691.2(TMC1):c.1584A>G (p.Thr528=)

NM_032634.3(PIGO):c.2065C>T (p.Arg689Cys)

NM_152722.4(HEPACAM):c.*419G>C

NM_033305.2(VPS13A):c.-232G>C

NM_033305.2(VPS13A):c.*185A>G

NM_000525.3(KCNJ11):c.*1168G>A

NM_000352.4(ABCC8):c.3705T>C (p.Ile1235=)

NM_004972.3(JAK2):c.*1337T>C

NM_000170.2(GLDC):c.63C>A (p.Arg21=)

NM_005566.3(LDHA):c.57C>T (p.Pro19=)

NM_033305.2(VPS13A):c.4927G>A (p.Asp1643Asn)

NM_000207.2(INS):c.-17-6T>A

NM_014252.3(SLC25A15):c.*1737G>A

NM_000136.2(FANCC):c.*1359C>G

NM_005708.4(GPC6):c.*4236G>A

NM_000197.1(HSD17B3):c.-6G>A

NM_004612.3(TGFBR1):c.*3382T>G

NM_020937.3(FANCM):c.2670T>C (p.Phe890=)

NM_004813.2(PEX16):c.-67C>A

NM_000428.2(LTBP2):c.2771C>T (p.Ala924Val)

NM_001040108.1(MLH3):c.*3140C>T

NM_006946.2(SPTBN2):c.5031C>T (p.Ala1677=)

NM_007103.3(NDUFV1):c.843T>C (p.His281=)

NM_006019.3(TCIRG1):c.1195C>T (p.Leu399=)

NM_018319.3(TDP1):c.*539G>A

NM_000295.4(SERPINA1):c.*1555C>T

NM_177438.2(DICER1):c.*3966C>A

NM_001083116.1(PRF1):c.*367G>A

NM_005472.4(KCNE3):c.*1383C>T

NM_018344.5(SLC29A3):c.1202G>A (p.Arg401His)

NM_144599.4(NIPA1):c.*1788G>A

NM_024698.5(SLC25A22):c.666G>A (p.Lys222=)

NM_004273.4(CHST3):c.*238G>A

NM_004273.4(CHST3):c.*4421G>C

NM_005591.3(MRE11):c.*1304A>T

NM_002658.4(PLAU):c.*398C>T

NM_033056.3(PCDH15):c.5450C>T (p.Pro1817Leu)

NM_014000.2(VCL):c.*1761A>G

NM_012330.3(KAT6B):c.2373+9G>A

NM_181882.2(PRX):c.3220G>A (p.Ala1074Thr)

NM_000709.3(BCKDHA):c.143T>C (p.Leu48Pro)

NM_000246.3(CIITA):c.*314C>A

NM_032520.4(GNPTG):c.525A>C (p.Leu175=)

NM_024729.3(MYH14):c.842T>C (p.Ile281Thr)

NM_000064.3(C3):c.2246-8C>T

NM_000208.3(INSR):c.*3877T>C

NM_207361.5(FREM2):c.2308G>A (p.Val770Met)

NM_207361.5(FREM2):c.6339C>T (p.Pro2113=)

NM_173201.3(ATP2A1):c.1722G>A (p.Glu574=)

NM_207361.5(FREM2):c.*1666_*1667delTG

NM_018979.3(WNK1):c.5968C>T (p.Pro1990Ser)

NM_000321.2(RB1):c.*604A>T

NM_032444.2(SLX4):c.1415T>C (p.Leu472Ser)

NM_000293.2(PHKB):c.77-7delC

NM_052910.2(SLITRK1):c.-178A>G

NM_015338.5(ASXL1):c.2247C>T (p.Leu749=)

NM_000178.3(GSS):c.1253G>A (p.Arg418Gln)

NM_001080432.2(FTO):c.45+8G>T

NM_001376.4(DYNC1H1):c.12705G>A (p.Pro4235=)

NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala)

NM_004530.5(MMP2):c.*453C>G

NM_022489.3(INF2):c.3190T>C (p.Leu1064=)

NM_000270.3(PNP):c.*1386C>T

NM_000457.4(HNF4A):c.*572C>A

NM_000311.4(PRNP):c.-18C>T

NM_001297.4(CNGB1):c.2452C>A (p.Leu818Ile)

NM_001001433.2(STX16):c.*2293G>A

NM_207034.2(EDN3):c.*585C>T

NM_003850.2(SUCLA2):c.*349C>G

NM_002386.3(MC1R):c.97G>C (p.Ala33Pro)

NM_000053.3(ATP7B):c.*1172G>A

NM_000053.3(ATP7B):c.-122G>A

NM_031427.3(DNAL1):c.*7310T>C

NM_130445.3(COL18A1):c.*342C>G

NM_005708.4(GPC6):c.*134A>G

NM_001169109.1(SCO2):c.-14+505G>A

NM_000487.5(ARSA):c.*2301T>C

NM_002351.4(SH2D1A):c.*1689C>A

NM_171998.3(RAB39B):c.*1428T>G

NM_000140.3(FECH):c.*5349C>T

NM_013435.2(RAX):c.*1319C>T

NM_005570.3(LMAN1):c.1319A>G (p.Lys440Arg)

NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro)

NM_005912.2(MC4R):c.-178A>C

NM_024729.3(MYH14):c.*216T>G

NM_000527.4(LDLR):c.*653G>C

NM_144687.3(NLRP12):c.2792A>G (p.Glu931Gly)

NM_015629.3(PRPF31):c.1297G>A (p.Val433Ile)

NM_006563.4(KLF1):c.353G>A (p.Gly118Asp)

NM_000435.2(NOTCH3):c.*96C>T

NM_000435.2(NOTCH3):c.338G>A (p.Arg113Gln)

NM_006949.3(STXBP2):c.1459G>T (p.Val487Leu)

NM_030957.3(ADAMTS10):c.834G>A (p.Ser278=)

NM_033064.4(ATCAY):c.*313G>A

NM_015338.5(ASXL1):c.*1814G>A

NM_006892.3(DNMT3B):c.*577C>T

NM_003573.2(LTBP4):c.1581G>T (p.Arg527=)

NM_152296.4(ATP1A3):c.2139C>G (p.Pro713=)

NM_025136.3(OPA3):c.*6767G>A

NM_030777.3(SLC2A10):c.920T>A (p.Met307Lys)

NM_025136.3(OPA3):c.*1254A>C

NM_000554.5(CRX):c.*400A>T

NM_000782.4(CYP24A1):c.*838T>G

NM_000554.5(CRX):c.*2183T>C

NM_000782.4(CYP24A1):c.-118T>C

NM_004738.4(VAPB):c.*1168G>A

NM_001001433.2(STX16):c.141C>T (p.Asp47=)

NM_017671.4(FERMT1):c.*730C>T

NM_002739.4(PRKCG):c.285C>T (p.Asp95=)

NM_017671.4(FERMT1):c.-215G>A

NM_000208.3(INSR):c.*1191T>C

NM_006702.4(PNPLA6):c.-122G>A

NM_033118.3(MYLK2):c.891G>C (p.Gly297=)

NM_004994.2(MMP9):c.45C>T (p.Gly15=)

NM_014339.6(IL17RA):c.*5677C>A

NM_006420.2(ARFGEF2):c.2831A>T (p.Tyr944Phe)

NM_017929.5(PEX26):c.*1194G>A

NM_004782.3(SNAP29):c.*2564dupA

NM_016327.2(UPB1):c.889G>A (p.Glu297Lys)

NM_002591.3(PCK1):c.1735A>C (p.Ser579Arg)

NM_022081.5(HPS4):c.*1229C>T

NM_001853.3(COL9A3):c.1511C>T (p.Pro504Leu)

NM_025219.2(DNAJC5):c.-166_-161dupCTGCCG

NM_000362.4(TIMP3):c.-407G>A

NM_004737.5(LARGE1):c.857G>A (p.Arg286His)

NM_001429.3(EP300):c.*137C>T

NM_000262.2(NAGA):c.*1929C>T

NM_000368.4(TSC1):c.2034C>T (p.His678=)

NM_000093.4(COL5A1):c.408C>T (p.Pro136=)

NM_018238.3(AGK):c.33C>A (p.His11Gln)

NM_020822.2(KCNT1):c.1008C>T (p.Cys336=)

NM_005097.3(LGI1):c.756C>T (p.Ile252=)

NM_015631.5(TCTN3):c.1764C>T (p.Val588=)

NM_017617.4(NOTCH1):c.6396G>C (p.Thr2132=)

NM_005188.3(CBL):c.1443G>T (p.Pro481=)

NM_005422.2(TECTA):c.5941T>A (p.Tyr1981Asn)

NM_001909.4(CTSD):c.-40C>T

NM_033087.3(ALG2):c.-11G>C

NM_002180.2(IGHMBP2):c.2344G>A (p.Val782Met)

NM_014000.2(VCL):c.1177-5T>C

NM_006231.3(POLE):c.*18G>T

NM_000051.3(ATM):c.8786+20G>C

NM_006231.3(POLE):c.285+13C>A

NM_174934.3(SCN4B):c.-27C>G

NM_000256.3(MYBPC3):c.2409C>A (p.Ile803=)

NM_024312.4(GNPTAB):c.2119G>A (p.Ala707Thr)

NM_001478.4(B4GALNT1):c.514G>C (p.Gly172Arg)

NM_004517.3(ILK):c.1197G>A (p.Glu399=)

NM_144670.5(A2ML1):c.186C>T (p.Thr62=)

NM_006231.3(POLE):c.3582+16C>T

NM_014844.4(TECPR2):c.2047A>G (p.Ile683Val)

NM_001003800.1(BICD2):c.861C>T (p.Asp287=)

NM_002225.3(IVD):c.273C>T (p.Gly91=)

NM_002225.3(IVD):c.1075-10C>T

NM_000059.3(BRCA2):c.4926T>C (p.Asn1642=)

NM_003480.3(MFAP5):c.59-4A>T

NM_014000.2(VCL):c.1176+20G>A

NM_002860.3(ALDH18A1):c.754C>T (p.Arg252Ter)

NM_000051.3(ATM):c.4332G>C (p.Leu1444=)

NM_005050.3(ABCD4):c.1507-18C>T

NM_004239.4(TRIP11):c.5057-9T>G

NM_032374.4(APOPT1):c.515+19C>T

NM_000548.4(TSC2):c.5259+9T>C

NM_000257.3(MYH7):c.-78C>T

NM_001018005.1(TPM1):c.563+7G>A

NM_005477.2(HCN4):c.1560G>A (p.Leu520=)

NM_021098.2(CACNA1H):c.379G>T (p.Glu127Ter)

NM_000138.4(FBN1):c.1530G>A (p.Ser510=)

NM_006231.3(POLE):c.3582+20G>T

NM_170707.3(LMNA):c.1566C>T (p.Cys522=)

NM_170707.3(LMNA):c.949G>A (p.Glu317Lys)

NM_001195794.1(CLRN1):c.142A>G (p.Asn48Asp)

NM_194248.2(OTOF):c.2370_2371insA (p.Asp791Argfs)

NM_194248.2(OTOF):c.4878C>T (p.Asp1626=)

NM_206933.2(USH2A):c.12294+1G>C

NM_206933.2(USH2A):c.14543G>A (p.Arg4848Gln)

NM_000355.3(TCN2):c.580+624A>T

NM_000277.1(PAH):c.293T>C (p.Leu98Ser)

NM_000277.1(PAH):c.194T>C (p.Ile65Thr)

NM_000130.4(F5):c.439G>T (p.Glu147Ter)

NM_000046.3(ARSB):c.410G>T (p.Gly137Val)

NM_000046.3(ARSB):c.1178A>C (p.His393Pro)

CA2, IVS2DS, G-A, +1

NM_001031710.2(KLHL7):c.458C>T (p.Ala153Val)

NM_014049.4(ACAD9):c.-44_-41dupTAAG

NM_020223.3(FAM20C):c.1136G>A (p.Gly379Glu)

CCDC50, 8-BP DUP, NT1394

NM_022369.3(STRA6):c.527dupG (p.Ser177Glnfs)

CYP11B1, 954G-A

NM_032985.4(SEC23B):c.790C>T (p.Arg264Ter)

NM_173660.4(DOK7):c.1339_1342dupCTGG (p.Gly448Alafs)

NM_001174089.1(SLC4A11):c.2078G>A (p.Gly693Glu)

NM_153704.5(TMEM67):c.648delA (p.Val217Leufs)

NM_031955.5(SPATA16):c.848G>A (p.Arg283Gln)

NM_000190.3(HMBS):c.500G>T (p.Arg167Leu)

NM_004035.6(ACOX1):c.926A>G (p.Gln309Arg)

NM_000237.2(LPL):c.808C>T (p.Arg270Cys)

NM_001127255.1(NLRP7):c.1951C>T (p.Pro651Ser)

NM_000382.2(ALDH3A2):c.1307_1311dupACAAA (p.Leu438Thrfs)

NM_000528.3(MAN2B1):c.1067C>G (p.Pro356Arg)

NM_015634.3(KIF1BP):c.268C>T (p.Arg90Ter)

CYP17A1, 1-BP DEL

NM_005767.5(LPAR6):c.565G>A (p.Glu189Lys)

NM_020376.3(PNPLA2):c.584C>T (p.Pro195Leu)

NM_022132.4(MCCC2):c.517dupT (p.Ser173Phefs)

NM_000132.3(F8):c.1648C>G (p.Arg550Gly)

NM_000132.3(F8):c.6533G>T (p.Arg2178Leu)

NM_001205019.1(GK):c.880A>G (p.Asn294Asp)

NM_000531.5(OTC):c.137A>G (p.Lys46Arg)

NM_001399.4(EDA):c.626C>T (p.Pro209Leu)

NM_001128834.2(PLP1):c.661G>T (p.Gly221Cys)

WAS, 15,800-BP DEL

EMD, 2-BP INS, NT198

DMD, EX18DEL

DMD, 1-BP INS, 7188A

ABCD1, 2-BP DEL, 2177TA

NM_000061.2(BTK):c.310-2A>G

NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln)

NM_199292.2(TH):c.1481C>T (p.Thr494Met)

NM_000546.5(TP53):c.532delC (p.His178Thrfs)

NM_000363.4(TNNI3):c.431T>A (p.Leu144Gln)

TGM1, IVS5, A-G, -2

NM_000660.6(TGFB1):c.653G>A (p.Arg218His)

NM_033360.3(KRAS):c.34G>C (p.Gly12Arg)

NM_021961.5(TEAD1):c.1261T>C (p.Tyr?His)

NM_000362.4(TIMP3):c.484G>T (p.Glu162Ter)

NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys)

NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs)

NM_000347.5(SPTB):c.6220_6269del50

NM_006920.4(SCN1A):c.2591C>T (p.Thr864Met)

NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu)

NM_020630.4(RET):c.1264-55dupG

NM_000451.3(SHOX):c.400C>A (p.Arg134=)

NM_000545.6(HNF1A):c.666_668delGAA (p.Lys222del)

NM_003276.2(TMPO):c.713T>G (p.Leu238Arg)

NM_007078.2(LDB3):c.1051A>G (p.Thr351Ala)

NM_001065.3(TNFRSF1A):c.625+10A>G

CFHR5, 1-BP INS, 485A

NM_005340.6(HINT1):c.152A>G (p.His51Arg)

NM_007294.3(BRCA1):c.134+5G>C

NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu)

NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys)

NM_000359.2(TGM1):c.944G>T (p.Arg315Leu)

NM_018026.3(PACS1):c.607C>T (p.Arg203Trp)

CHD8, 1-BP INS, T

NM_006383.3(CIB2):c.272T>C (p.Phe91Ser)

AAGAB, 1-BP DEL, NT473

NM_003036.3(SKI):c.103C>T (p.Pro35Ser)

NM_002768.4(CHMP1A):c.88C>T (p.Gln30Ter)

NM_020964.2(EPG5):c.4588C>T (p.Gln1530Ter)

NM_020774.3(MIB1):c.1588C>T (p.Arg530Ter)

NM_000138.4(FBN1):c.8156_8175del20 (p.Lys2719Thrfs)

NM_004333.4(BRAF):c.1502A>C (p.Glu501Ala)

NM_005343.3(HRAS):c.309G>A (p.Val103=)

NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala)

NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly)

NM_000059.3(BRCA2):c.4935delA (p.Glu1646Lysfs)

NM_000059.3(BRCA2):c.517-11T>C

NM_000059.3(BRCA2):c.5389_5390delGC (p.Ala1797Lysfs)

NM_000059.3(BRCA2):c.5660C>T (p.Thr1887Met)

NM_000059.3(BRCA2):c.5857delG (p.Glu1953Lysfs)

NM_000059.3(BRCA2):c.6079dupA (p.Arg2027Lysfs)

NM_000059.3(BRCA2):c.631+4A>G

NM_000059.3(BRCA2):c.6461A>C (p.Tyr2154Ser)

NM_000059.3(BRCA2):c.67+1G>T

NM_000059.3(BRCA2):c.6842-19_6842-18delAT

NM_000059.3(BRCA2):c.7067_7068delTT (p.Phe2356Serfs)

NM_000059.3(BRCA2):c.7366C>G (p.Gln2456Glu)

NM_000059.3(BRCA2):c.7617+1G>T

NM_000059.3(BRCA2):c.7805+8A>G

NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=)

NM_000059.3(BRCA2):c.8162T>G (p.Leu2721Arg)

NM_000059.3(BRCA2):c.8535_8538delAGAG (p.Glu2846Lysfs)

NM_000059.3(BRCA2):c.992A>T (p.Lys331Ile)

NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp)

NM_000492.3(CFTR):c.4C>T (p.Gln2Ter)

NM_000492.3(CFTR):c.625G>T (p.Ala209Ser)

NM_000492.3(CFTR):c.890G>A (p.Arg297Gln)

NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg)

NM_007294.3(BRCA1):c.1265dupA (p.Tyr422Terfs)

NM_007294.3(BRCA1):c.1386delG (p.Thr464Profs)

NM_007294.3(BRCA1):c.1519A>T (p.Arg507Ter)

NM_007294.3(BRCA1):c.1716dupA (p.Ser573Ilefs)

NM_007294.3(BRCA1):c.1893A>G (p.Leu631=)

NM_007294.3(BRCA1):c.2012_2013dupGT (p.Lys672Valfs)

NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs)

NM_007294.3(BRCA1):c.2322T>A (p.Gly774=)

NM_007294.3(BRCA1):c.2487delT (p.Phe829Leufs)

NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg)

NM_007294.3(BRCA1):c.2805delA (p.Asp936Ilefs)

NM_007294.3(BRCA1):c.2968G>A (p.Val990Ile)

NM_007294.3(BRCA1):c.3157dupG (p.Glu1053Glyfs)

NM_007294.3(BRCA1):c.3313C>A (p.His1105Asn)

NM_007294.3(BRCA1):c.3432G>T (p.Gln1144His)

NM_007294.3(BRCA1):c.3607C>G (p.Arg1203Gly)

NM_007294.3(BRCA1):c.3746C>G (p.Thr1249Ser)

NM_007294.3(BRCA1):c.3880_3883delAGCT (p.Ser1294Cysfs)

NM_007294.3(BRCA1):c.4052dupT (p.Leu1351Phefs)

NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter)

NM_007294.3(BRCA1):c.4391dupC (p.Ile1465Tyrfs)

NM_000243.2(MEFV):c.866C>A (p.Ala289Glu)

NM_000310.3(PPT1):c.550G>A (p.Glu184Lys)

NM_001042432.1(CLN3):c.1268C>A (p.Ser423Ter)

NM_001080522.2(CC2D2A):c.3399-3C>A

NM_017777.3(MKS1):c.1407+2delT

NM_017890.4(VPS13B):c.467_470delATAA (p.Asn156Ilefs)

NM_018941.3(CLN8):c.66delG (p.Ile23Serfs)

NM_153704.5(TMEM67):c.1538_1539delAT (p.Tyr513Terfs)

NM_005664.3(MKRN3):c.637delC (p.Arg213Glyfs)

GRCh38/hg38 3p26.1(chr3:6476154-7285494)x3

GRCh38/hg38 2p24.3(chr2:13383787-14257839)x1

GRCh38/hg38 4q35.2(chr4:188831734-189158143)x3

GRCh38/hg38 20p13(chr20:89939-1360110)x1

GRCh38/hg38 1p35.1-34.3(chr1:33564892-34725930)x3

GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1

GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1

GRCh38/hg38 10q26.3(chr10:131063816-131761750)x3

NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp)

NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del)

NM_000090.3(COL3A1):c.2122_2148del27 (p.Pro712_Gly720del)

NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser)

NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu)

NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val)

NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp)

NM_001013703.3(EIF2AK4):c.1153dupG (p.Val385Glyfs)

NM_000277.1(PAH):c.1030G>A (p.Gly344Ser)

NM_000277.1(PAH):c.1132A>T (p.Thr378Ser)

NM_000277.1(PAH):c.1315+2T>C

NM_000277.1(PAH):c.266dupC (p.Ala90Cysfs)

NM_000277.1(PAH):c.473G>C (p.Arg158Pro)

NM_000277.1(PAH):c.58C>T (p.Gln20Ter)

NM_000277.1(PAH):c.707-7A>T

NM_000277.1(PAH):c.808A>G (p.Arg270Gly)

NM_000277.1(PAH):c.926C>A (p.Ala309Asp)

NM_000246.3(CIITA):c.-479C>T

NM_000246.3(CIITA):c.3150-77A>C

NM_001174081.2(NLRP2):c.2201+456G>A

NM_007294.3(BRCA1):c.3958T>C (p.Ser1320Pro)

NM_007294.3(BRCA1):c.5164T>C (p.Ser1722Pro)

NM_007294.3(BRCA1):c.441+3A>G

BRCA2: exon 2 deletion

NM_000059.3(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu)

NM_000059.3(BRCA2):c.4563_4564delAT (p.Leu1522Glyfs)

NM_000059.3(BRCA2):c.6842-30_6842-3del28

NM_001080522.2(CC2D2A):c.4065+28A>T

NM_024809.4(TCTN2):c.891+22T>C

NM_003070.4(SMARCA2):c.177G>A (p.Thr59=)

NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met)

NM_021625.4(TRPV4):c.1774T>C (p.Phe592Leu)

NM_152305.2(POGLUT1):c.835dupC (p.Arg279Profs)

NM_024675.3(PALB2):c.1475G>T (p.Gly492Val)

PALB2:c.2515-1G>T

NM_024675.3(PALB2):c.3048delT (p.Phe1016Leufs)

NM_024675.3(PALB2):c.53A>G (p.Lys18Arg)

NM_000321.2(RB1):c.305_306delGT (p.Cys102Tyrfs)

NM_004996.3(ABCC1):c.2461-1217G>A

NM_001127464.2(ZNF469):c.11101G>A (p.Gly3701Ser)

NM_017849.3(TMEM127):c.3G>T (p.Met1Ile)

NM_005591.3(MRE11):c.*1933G>T

NM_001001430.2(TNNT2):c.400C>T (p.Arg134Trp)

NM_006785.3(MALT1):c.1739G>C (p.Trp580Ser)

NM_022166.3(XYLT1):c.1588-3C>T

NM_000038.5(APC):c.3970C>G (p.Pro1324Ala)

NM_000051.3(ATM):c.1744T>C (p.Phe582Leu)

NM_000179.2(MSH6):c.3788G>A (p.Arg1263His)

NM_000251.2(MSH2):c.382C>G (p.Leu128Val)

NM_000455.4(STK11):c.465-4G>A

NM_000546.5(TP53):c.173C>G (p.Pro58Arg)

NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu)

NM_000251.2(MSH2):c.2203A>G (p.Ile735Val)

NM_000551.3(VHL):c.538A>G (p.Ile180Val)

NM_000313.3(PROS1):c.1594A>G (p.Thr532Ala)

NM_024603.3(BEND5):c.1210A>G (p.Ile404Val)

NM_001204397.1(PITX2):c.559G>A (p.Ala187Thr)

NM_000506.4(F2):c.734delT (p.Leu245Argfs)

NM_004054.3(C3AR1):c.1148T>C (p.Val383Ala)

NM_001127258.2(HHIPL1):c.1471G>C (p.Gly491Arg)

NM_152868.2(KCNJ4):c.586C>T (p.Arg196Cys)

NM_000760.3(CSF3R):c.922C>T (p.Arg308Cys)

NM_021830.4(TWNK):c.1754A>G (p.Asn585Ser)

NM_005211.3(CSF1R):c.1699delA (p.Thr567Argfs)

NC_000006.12:g.43858890C>T

NM_152778.2(MFSD8):c.1102G>C (p.Asp368His)

NM_014305.3(TGDS):c.892A>G (p.Asn298Asp)

NM_005360.4(MAF):c.173C>T (p.Thr58Ile)

NM_013382.5(POMT2):c.1183+14A>G

NM_206933.2(USH2A):c.10062G>C (p.Val3354=)

NM_133378.4(TTN):c.60547A>C (p.Asn20183His)

NM_133378.4(TTN):c.85102G>A (p.Val28368Ile)

NM_133379.4(TTN):c.*265+110089A>G

NM_133378.4(TTN):c.32631C>T (p.Leu10877=)

NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)

NM_133432.3(TTN):c.12885A>G (p.Glu4295=)

NM_001256850.1(TTN):c.10360+1644T>C

NM_001256850.1(TTN):c.20328A>G (p.Thr6776=)

NM_133378.4(TTN):c.14020C>A (p.Pro4674Thr)

NM_133378.4(TTN):c.11765-8T>C

NM_133378.4(TTN):c.8314G>A (p.Val2772Met)

NM_133378.4(TTN):c.3070G>A (p.Val1024Ile)

NM_001927.3(DES):c.250G>A (p.Gly84Ser)

NM_001369.2(DNAH5):c.5115-5T>C

NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)

NM_198056.2(SCN5A):c.3995delC (p.Pro1332Argfs)

NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)

NM_001277115.1(DNAH11):c.12509C>T (p.Thr4170Ile)

NM_001277115.1(DNAH11):c.2166A>G (p.Pro722=)

NM_001035.2(RYR2):c.893G>A (p.Arg298His)

NM_000540.2(RYR1):c.3301G>A (p.Val1101Met)

NM_144573.3(NEXN):c.1733G>C (p.Arg578Thr)

NM_001927.3(DES):c.154C>A (p.Arg52Ser)

NM_001134363.2(RBM20):c.1603G>A (p.Val535Ile)

NM_032578.3(MYPN):c.3493+15_3493+20delTGGGAC

NM_014000.2(VCL):c.1819A>C (p.Lys607Gln)

NM_014391.2(ANKRD1):c.346-20_346-19delTT

NM_004572.3(PKP2):c.1558A>G (p.Ile520Val)

NM_003673.3(TCAP):c.290C>T (p.Ala97Val)

NM_002230.2(JUP):c.1354A>T (p.Thr452Ser)

NM_001390.4(DTNA):c.784C>T (p.His262Tyr)

NM_001142298.1(SQSTM1):c.98C>T (p.Ala33Val)

NM_001256850.1(TTN):c.96175delGinsCT (p.Asp32059Leufs)

NM_001256850.1(TTN):c.95524G>C (p.Glu31842Gln)

NM_001256850.1(TTN):c.89704A>G (p.Ile29902Val)

NM_001256850.1(TTN):c.88207G>T (p.Gly29403Cys)

NM_001256850.1(TTN):c.84149C>A (p.Thr28050Asn)

NM_001256850.1(TTN):c.76508A>G (p.Glu25503Gly)

NM_001256850.1(TTN):c.69641C>T (p.Thr23214Ile)

NM_001256850.1(TTN):c.62216T>A (p.Ile20739Asn)

NM_005732.3(RAD50):c.1369C>G (p.Leu457Val)

NM_005732.3(RAD50):c.3454C>T (p.Arg1152Ter)

NM_000535.6(PMS2):c.109A>G (p.Thr37Ala)

NM_002485.4(NBN):c.2184+1G>T

NM_002485.4(NBN):c.2003C>T (p.Thr668Ile)

NM_002485.4(NBN):c.339G>A (p.Leu113=)

NM_000077.4(CDKN2A):c.212delA (p.Asn71Thrfs)

NM_000051.3(ATM):c.496+3A>G

NM_000051.3(ATM):c.2190T>C (p.Cys730=)

NM_000051.3(ATM):c.3252_3259delAGTTCGCA (p.Gln1084Hisfs)

NM_000051.3(ATM):c.3283A>C (p.Arg1095=)

NM_000051.3(ATM):c.4561G>C (p.Val1521Leu)

NM_000051.3(ATM):c.5217C>T (p.Asn1739=)

NM_000051.3(ATM):c.5822T>G (p.Val1941Gly)

NM_000051.3(ATM):c.7629+3A>C

NM_000051.3(ATM):c.8336T>A (p.Phe2779Tyr)

NM_003002.3(SDHD):c.320T>G (p.Leu107Arg)

NM_005591.3(MRE11):c.408T>C (p.Asp136=)

NM_000059.3(BRCA2):c.505A>C (p.Lys169Gln)

NM_000059.3(BRCA2):c.4366G>A (p.Glu1456Lys)

NM_000059.3(BRCA2):c.8040C>G (p.Asp2680Glu)

NM_024675.3(PALB2):c.3246_3247delTG (p.Ser1082Argfs)

NM_024675.3(PALB2):c.2835G>A (p.Arg945=)

NM_024675.3(PALB2):c.1694G>A (p.Ser565Asn)

NM_024675.3(PALB2):c.263T>C (p.Leu88Pro)

NM_004360.4(CDH1):c.358G>A (p.Gly120Arg)

NM_001042492.2(NF1):c.872A>C (p.Glu291Ala)

NM_005359.5(SMAD4):c.369T>C (p.Cys123=)

NM_007194.3(CHEK2):c.507_509delTGT (p.Phe169_Val170delinsLeu)

NC_012920.1:m.7867C>T

NM_000314.6(PTEN):c.531T>G (p.Tyr177Ter)

NM_018965.3(TREM2):c.*73G>A

NM_006876.2(B4GAT1):c.1067T>C (p.Leu356Pro)

NM_014080.4(DUOX2):c.2182G>A (p.Ala728Thr)

NC_012920.1:m.6554C>T

NM_001128834.2(PLP1):c.388C>T (p.His130Tyr)

NC_012920.1:m.15514T>C

NC_012920.1:m.8818C>T

NM_000252.2(MTM1):c.564_566delTAA (p.Asn189del)

NM_022068.3(PIEZO2):c.8181_8183delAGA (p.Glu2727del)

NM_001168272.1(ITPR1):c.7758T>G (p.Phe2586Leu)

NM_000350.2(ABCA4):c.4979C>T (p.Pro1660Leu)

NM_000350.2(ABCA4):c.180G>C (p.Ala60=)

NM_004621.5(TRPC6):c.1293+54G>T

NM_007294.3(BRCA1):c.441+2T>G

NM_001298.2(CNGA3):c.1557G>A (p.Met519Ile)

NM_006269.1(RP1):c.121T>C (p.Tyr41His)

NM_001297.4(CNGB1):c.1382C>T (p.Thr461Met)

NM_015074.3(KIF1B):c.1401A>T (p.Gly467=)

NM_001267550.2(TTN):c.15500C>T (p.Pro5167Leu)

NM_001267550.2(TTN):c.3730-7T>C

NM_000251.2(MSH2):c.790C>T (p.Gln264Ter)

NM_018062.3(FANCL):c.963T>A (p.Asp321Glu)

NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu)

NM_000551.3(VHL):c.464-?_*3705+?del

NM_000388.3(CASR):c.1752G>A (p.Lys584=)

NM_001166110.1(PALLD):c.283G>C (p.Val95Leu)

NM_006206.4(PDGFRA):c.555G>T (p.Gly185=)

NM_006206.4(PDGFRA):c.1319C>T (p.Thr440Met)

NM_000038.5(APC):c.986A>G (p.Asp329Gly)

NM_000038.5(APC):c.1743+1G>A

NM_000038.5(APC):c.5025dupT (p.Arg1676Terfs)

NM_001010892.2(RSPH4A):c.259C>T (p.Pro87Ser)

NM_001206927.1(DNAH8):c.9739A>G (p.Arg3247Gly)

NM_021930.5(RINT1):c.2067+6T>A

NM_000492.3(CFTR):c.744-6T>G

NM_001999.3(FBN2):c.2429-48T>C

NM_001369.2(DNAH5):c.8224+15G>A

NM_001369.2(DNAH5):c.2577+5T>C

NM_022464.4(SIL1):c.900C>T (p.Phe300=)

NM_003122.4(SPINK1):c.-41G>A

NM_020381.3(PDSS2):c.348G>T (p.Val116=)

NM_014845.5(FIG4):c.808A>G (p.Thr270Ala)

NM_000426.3(LAMA2):c.5071+18A>G

NM_017651.4(AHI1):c.2962-16A>G

NM_019105.6(TNXB):c.11136G>A (p.Thr3712=)

NM_019105.6(TNXB):c.6842-24C>T

NM_138694.3(PKHD1):c.1875G>T (p.Leu625=)

NM_001851.4(COL9A1):c.89-12T>C

NM_000474.3(TWIST1):c.259_276del18 (p.Ala87_Gly92del)

NM_001277115.1(DNAH11):c.5734A>G (p.Met1912Val)

NM_001277115.1(DNAH11):c.12508-14C>T

NM_018685.4(ANLN):c.883_885dupTCT (p.Ser295_Pro296insSer)

NM_016616.4(NME8):c.-5G>T

NM_000445.4(PLEC):c.3004+37C>T

NM_020476.2(ANK1):c.2960+13G>T

NM_017780.3(CHD7):c.3379-33A>G

NM_015046.5(SETX):c.2975A>G (p.Lys992Arg)

NM_139025.4(ADAMTS13):c.3097G>A (p.Ala1033Thr)

NM_019892.5(INPP5E):c.791G>A (p.Arg264His)

NM_144966.5(FREM1):c.4785C>T (p.Ala1595=)

NM_000507.3(FBP1):c.653G>A (p.Arg218Lys)

NM_000264.3(PTCH1):c.202-19C>T

NM_000494.3(COL17A1):c.3261T>C (p.Ile1087=)

NM_022124.5(CDH23):c.5503-44T>C

NM_002778.3(PSAP):c.909+32G>T

NM_016952.4(CDON):c.496+50T>C

NM_000256.3(MYBPC3):c.1091-31G>A

NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=)

NM_002465.3(MYBPC1):c.26-9C>T

NM_014365.2(HSPB8):c.402T>C (p.Ile134=)

NM_001844.4(COL2A1):c.1635C>T (p.Asn545=)

NM_014191.3(SCN8A):c.3490+20G>A

NM_000552.4(VWF):c.3579T>C (p.Pro1193=)

NM_020661.3(AICDA):c.156+16G>A

NM_001845.5(COL4A1):c.780+7G>A

NM_000321.2(RB1):c.2663+33C>T

NM_002471.3(MYH6):c.4959+46G>C

NM_000275.2(OCA2):c.1842+17C>T

NM_000338.2(SLC12A1):c.2043-9dupT

NM_007315.3(STAT1):c.*1473C>T

NM_007315.3(STAT1):c.-293C>G

NM_001044385.2(TMEM237):c.*1603T>G

NM_020919.3(ALS2):c.1677A>G (p.Lys559=)

NM_012092.3(ICOS):c.*964T>C

NM_032977.3(CASP10):c.*285G>A

NM_001228.4(CASP8):c.394T>C (p.Leu132=)

NM_015040.3(PIKFYVE):c.*720A>G

NM_001204.6(BMPR2):c.*4364C>T

NM_000384.2(APOB):c.3881T>C (p.Leu1294Ser)

NM_001608.3(ACADL):c.603+11A>G

NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr)

NM_000384.2(APOB):c.11466G>A (p.Val3822=)

NM_000465.3(BARD1):c.-30G>C

NM_020184.3(CNNM4):c.*1056C>T

NM_001298.2(CNGA3):c.238C>T (p.Leu80=)

NM_016247.3(IMPG2):c.3503C>G (p.Ala1168Gly)

NM_020754.3(ARHGAP31):c.*590C>T

NM_014014.4(SNRNP200):c.2222T>C (p.Met741Thr)

NM_033084.4(FANCD2):c.*135A>G

NM_000373.3(UMPS):c.*4717C>T

NM_000539.3(RHO):c.*115G>A

NM_000551.3(VHL):c.*2738G>A

NM_153240.4(NPHP3):c.2169G>A (p.Ala723=)

NM_000187.3(HGD):c.1221G>A (p.Ala407=)

NM_053025.3(MYLK):c.*1174_*1177dupCTTA

NM_000373.3(UMPS):c.1336A>G (p.Ile446Val)

NM_025265.3(TSEN2):c.*211C>T

NM_005573.3(LMNB1):c.672A>G (p.Glu224=)

NM_138694.3(PKHD1):c.*1597G>A

NM_001999.3(FBN2):c.7138G>A (p.Asp2380Asn)

NM_003060.3(SLC22A5):c.952-14T>C

NM_000129.3(F13A1):c.-19+12A>C

NM_001369.2(DNAH5):c.*445G>A

NM_000358.2(TGFBI):c.-124C>A

NM_014989.5(RIMS1):c.*1355C>T

NM_004415.3(DSP):c.-228C>A

NM_004415.3(DSP):c.*386G>T

NM_001369.2(DNAH5):c.7091G>C (p.Gly2364Ala)

NM_001369.2(DNAH5):c.1341C>T (p.His447=)

NM_017415.2(KLHL3):c.*1434T>G

NM_000493.3(COL10A1):c.1851T>C (p.Asn617=)

NM_199189.2(MATR3):c.*1076T>C

NM_005219.4(DIAPH1):c.*1364T>C

NM_001018077.1(NR3C1):c.*3833A>G

NM_000288.3(PEX7):c.*305_*310delCTTATA

NM_003630.2(PEX3):c.*1074A>G

NM_033071.3(SYNE1):c.19443C>T (p.Val6481=)

NM_033071.3(SYNE1):c.1312G>T (p.Val438Phe)

NM_004562.2(PRKN):c.*1695G>A

NM_024577.3(SH3TC2):c.*7939C>A

NM_000405.4(GM2A):c.-7C>G

NM_000405.4(GM2A):c.*2767C>T

NM_000337.5(SGCD):c.*8113_*8114dupAA

NM_001099287.1(NIPAL4):c.*1733G>T

NM_000337.5(SGCD):c.*1171C>A

NM_000337.5(SGCD):c.*5114C>T

NM_000806.5(GABRA1):c.1290A>G (p.Leu430=)

NM_000816.3(GABRG2):c.*343A>G

NM_012188.4(FOXI1):c.30C>T (p.Ser10=)

NM_022455.4(NSD1):c.*946C>T

NM_003052.4(SLC34A1):c.-48G>C

NM_014244.4(ADAMTS2):c.2727C>T (p.Asn909=)

NM_003221.3(TFAP2B):c.997G>T (p.Ala333Ser)

NM_000505.3(F12):c.418C>G (p.Leu140Val)

NM_003221.3(TFAP2B):c.*2446C>G

NM_004168.3(SDHA):c.163T>C (p.Tyr55His)

NM_005751.4(AKAP9):c.5227G>A (p.Ala1743Thr)

NM_014244.4(ADAMTS2):c.*2196T>A

NM_002185.3(IL7R):c.*1924G>A

NM_138694.3(PKHD1):c.7301C>T (p.Ala2434Val)

NM_000466.2(PEX1):c.1369A>G (p.Ile457Val)

NM_014251.2(SLC25A13):c.-85_-83dupCCG

NM_023073.3(C5orf42):c.4719C>T (p.Asp1573=)

NM_178857.5(RP1L1):c.2915C>G (p.Thr972Arg)

NM_018368.3(LMBRD1):c.100C>G (p.Arg34Gly)

NM_014989.5(RIMS1):c.438C>T (p.Arg146=)

NM_004172.4(SLC1A3):c.*1353A>G

NM_023073.3(C5orf42):c.*889A>G

NM_014112.4(TRPS1):c.-258G>A

NM_002546.3(TNFRSF11B):c.714G>A (p.Glu238=)

NM_014846.3(WASHC5):c.-167C>T

NM_000514.3(GDNF):c.*1331G>C

NM_004519.3(KCNQ3):c.*2385_*2388delAGTA

NM_018972.2(GDAP1):c.*830C>G

NM_020975.4(RET):c.*1345G>T

NM_002900.2(RBP3):c.1674G>A (p.Ser558=)

NM_001001557.3(GDF6):c.*288T>A

NM_033056.3(PCDH15):c.3501+7G>T

NM_052845.3(MMAB):c.*2619A>T

NM_000432.3(MYL2):c.275-12G>A

NM_024809.4(TCTN2):c.*155G>A

NM_004064.4(CDKN1B):c.356T>C (p.Ile119Thr)

NM_172364.4(CACNA2D4):c.*1114G>A

NM_004985.4(KRAS):c.*824T>C

NM_017641.3(KIF21A):c.3072C>T (p.Ala1024=)

NM_198578.3(LRRK2):c.*935_*936dupTT

NM_000314.6(PTEN):c.-121A>G

NM_014694.3(ADAMTSL2):c.*252C>T

NM_000235.3(LIPA):c.*330T>C

NM_000787.3(DBH):c.1563-5A>G

NM_016341.3(PLCE1):c.-433G>T

NM_138413.3(HOGA1):c.*637G>A

NM_019892.5(INPP5E):c.*913T>C

NM_016219.4(MAN1B1):c.1695G>A (p.Thr565=)

NM_000093.4(COL5A1):c.2555A>G (p.Asn852Ser)

NM_144966.5(FREM1):c.4754A>G (p.Asp1585Gly)

NM_000424.3(KRT5):c.*59C>T

NM_144966.5(FREM1):c.553C>T (p.His185Tyr)

NM_001080463.1(DYNC2H1):c.8365T>C (p.Phe2789Leu)

NM_003070.4(SMARCA2):c.3165T>C (p.Leu1055=)

NM_006121.3(KRT1):c.374G>A (p.Gly125Asp)

NM_002451.3(MTAP):c.*3943G>A

NM_006412.3(AGPAT2):c.748C>T (p.Arg250Trp)

NM_000051.3(ATM):c.*1427T>C

NM_133497.3(KCNV2):c.1049_1052dupTGCT (p.Leu352Alafs)

NM_174934.3(SCN4B):c.*1007G>A

NM_003383.4(VLDLR):c.1066+14T>C

NM_005476.5(GNE):c.*1036_*1037dupCA

NM_001256054.2(C9orf72):c.1260-17_1260-14dupTTTT

NM_006031.5(PCNT):c.4775T>G (p.Val1592Gly)

NM_006031.5(PCNT):c.9720G>A (p.Pro3240=)

NM_017929.5(PEX26):c.*1669C>G

NM_004086.2(COCH):c.*27A>T

NM_020529.2(NFKBIA):c.*18G>C

NM_182914.2(SYNE2):c.4190C>A (p.Thr1397Asn)

NM_000347.5(SPTB):c.1796G>A (p.Gly599Glu)

NM_000021.3(PSEN1):c.*4095A>G

NM_000212.2(ITGB3):c.*517C>T

NM_018129.3(PNPO):c.*1123G>A

NM_053013.3(ENO3):c.226G>C (p.Ala76Pro)

NM_017791.2(FLVCR2):c.-71C>T

NM_000138.4(FBN1):c.*960delG

NM_007137.3(ZNF81):c.*4003G>A

NM_004863.3(SPTLC2):c.*3457T>C

NM_022807.4(SNRPN):c.-110T>G

NM_005159.4(ACTC1):c.*2168G>T

NM_005159.4(ACTC1):c.*284G>A

NM_000070.2(CAPN3):c.1768G>A (p.Val590Met)

NM_173500.3(TTBK2):c.980+8C>A

NM_014080.4(DUOX2):c.3689C>T (p.Ala1230Val)

NM_001143979.1(NDE1):c.947+7227C>T

NM_000199.3(SGSH):c.1296C>T (p.Tyr432=)

NM_000069.2(CACNA1S):c.1166A>T (p.Asp389Val)

NM_001165963.1(SCN1A):c.5245G>A (p.Gly1749Arg)

NM_024665.5(TBL1XR1):c.1108G>A (p.Asp370Asn)

NM_002222.5(ITPR1):c.107G>A (p.Arg36His)

NM_053025.3(MYLK):c.-4G>A

NM_145207.2(SPATA5):c.304C>T (p.Pro102Ser)

NM_032446.2(MEGF10):c.1192G>T (p.Glu398Ter)

NM_000142.4(FGFR3):c.1052C>G (p.Ser351Cys)

NM_000089.3(COL1A2):c.401delC (p.Pro134Glnfs)

NM_133436.3(ASNS):c.1279T>C (p.Ser427Pro)

NM_032578.3(MYPN):c.578A>G (p.Gln193Arg)

NM_007055.3(POLR3A):c.1930G>A (p.Glu644Lys)

NM_144670.5(A2ML1):c.*1+1G>A

NM_014714.3(IFT140):c.2176C>G (p.Pro726Ala)

NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys)

NM_001172517.1(SATB2):c.1198A>G (p.Lys400Glu)

NM_013339.3(ALG6):c.988G>T (p.Val330Phe)

NM_005270.4(GLI2):c.891delG (p.Gln297Hisfs)

NM_022787.3(NMNAT1):c.710G>A (p.Arg237His)

NM_003978.4(PSTPIP1):c.7C>T (p.Pro3Ser)

NM_005188.3(CBL):c.2097G>A (p.Glu699=)

NM_001278512.1(AP3B2):c.1837delG (p.Glu613Serfs)

NM_020738.3(KIDINS220):c.4050G>A (p.Trp1350Ter)

NM_006231.3(POLE):c.3671C>T (p.Ala1224Val)

NM_000138.4(FBN1):c.6004C>T (p.Pro2002Ser)

NM_000520.5(HEXA):c.616G>C (p.Val206Leu)

NM_032119.3(ADGRV1):c.12436C>T (p.Arg4146Ter)

NM_000742.3(CHRNA2):c.289G>A (p.Asp97Asn)

NM_006772.2(SYNGAP1):c.509G>A (p.Arg170Gln)

NM_003588.3(CUL4B):c.1736_1737delCA (p.Thr579Argfs)

NM_002043.4(GABRR2):c.1003G>A (p.Val335Met)

NM_001013663.1(PTRHD1):c.155G>A (p.Cys52Tyr)

NM_000527.4(LDLR):c.672C>A (p.Asp224Glu)

NM_000527.4(LDLR):c.2479G>T (p.Val827Phe)

NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser)

NM_000179.2(MSH6):c.2436A>G (p.Leu812=)

NM_001135659.2(NRXN1):c.3485-109912G>A

NM_005006.6(NDUFS1):c.1062C>T (p.Leu354=)

NM_014929.3(FASTKD2):c.1255-7T>C

NM_033109.4(PNPT1):c.2149-11T>G

NM_015120.4(ALMS1):c.4965G>T (p.Lys1655Asn)

NM_000551.3(VHL):c.301C>T (p.Leu101=)

NM_000249.3(MLH1):c.51C>T (p.Asn17=)

NM_002880.3(RAF1):c.1668+14G>C

NM_015662.2(IFT172):c.2787+6G>A

NM_005051.2(QARS):c.25C>A (p.Leu9Ile)

NM_000249.3(MLH1):c.2103+14G>A

NM_017875.2(SLC25A38):c.525G>C (p.Arg175=)

NM_001135659.2(NRXN1):c.4337-13C>T

NM_024582.4(FAT4):c.14598A>G (p.Arg4866=)

NM_000094.3(COL7A1):c.6751G>A (p.Gly2251Arg)

NM_001457.3(FLNB):c.3169A>C (p.Lys1057Gln)

NM_000038.5(APC):c.135+12G>T

NM_001148.4(ANK2):c.9869C>T (p.Ala3290Val)

NM_024582.4(FAT4):c.5760T>C (p.Asp1920=)

NM_024582.4(FAT4):c.8979C>T (p.Thr2993=)

NM_002887.3(RARS):c.243A>G (p.Gln81=)

NM_183357.2(ADCY5):c.2083C>T (p.Arg695Trp)

NM_015560.2(OPA1):c.-11C>G

NM_033071.3(SYNE1):c.687G>A (p.Pro229=)

NM_000806.5(GABRA1):c.-15-25G>T

NM_016098.3(MPC1):c.30G>A (p.Ala10=)

NM_198056.2(SCN5A):c.303C>T (p.Thr101=)

NM_006514.3(SCN10A):c.4089+12A>T

NM_013391.3(DMGDH):c.2385+11A>C

NM_006514.3(SCN10A):c.2106+9T>C

NM_015340.3(LARS2):c.693A>G (p.Ala231=)

NM_001069.2(TUBB2A):c.363G>A (p.Arg121=)

NM_006073.3(TRDN):c.1524G>A (p.Lys508=)

NM_005045.3(RELN):c.1824C>T (p.Cys608=)

NM_001167734.1(VARS2):c.258G>T (p.Ala86=)

NM_006567.4(FARS2):c.468G>A (p.Thr156=)

NM_006005.3(WFS1):c.2589C>T (p.Ile863=)

NM_000535.6(PMS2):c.23+6C>A

NM_000445.4(PLEC):c.6699C>T (p.Asp2233=)

NM_001182.4(ALDH7A1):c.1093C>T (p.Pro365Ser)

NM_024531.4(SLC52A2):c.1122C>T (p.Leu374=)

NM_000238.3(KCNH2):c.917-18C>T

NM_001204824.1(KCNQ3):c.-33250C>A

NM_003165.3(STXBP1):c.1659C>T (p.Ala553=)

NM_022455.4(NSD1):c.7219A>G (p.Thr2407Ala)

NM_018941.3(CLN8):c.708C>T (p.Val236=)

NM_007175.6(ERLIN2):c.-42G>C

NM_015570.3(AUTS2):c.1481T>C (p.Leu494Ser)

NM_002485.4(NBN):c.2234+17C>T

NM_001385.2(DPYS):c.352C>T (p.Arg118Ter)

NM_020381.3(PDSS2):c.703-14T>C

NM_020732.3(ARID1B):c.6519G>C (p.Gln2173His)

NM_016042.3(EXOSC3):c.540T>C (p.Cys180=)

NM_007171.3(POMT1):c.281-5T>C

NM_020822.2(KCNT1):c.417G>A (p.Pro139=)

NM_004415.3(DSP):c.7923C>T (p.Ile2641=)

NM_213649.1(SFXN4):c.678G>A (p.Ala226=)

NM_006348.3(COG5):c.1020T>C (p.His340=)

NM_020822.2(KCNT1):c.2502C>T (p.Ile834=)

NM_017617.4(NOTCH1):c.6583G>A (p.Gly2195Ser)

NM_000051.3(ATM):c.400G>A (p.Gly134Ser)

NM_001123383.1(BCOR):c.1448C>T (p.Pro483Leu)

NM_000059.3(BRCA2):c.3358G>C (p.Glu1120Gln)

NM_032415.5(CARD11):c.1581C>A (p.His527Gln)

NM_001783.3(CD79A):c.643A>G (p.Ser215Gly)

NM_007194.3(CHEK2):c.14C>T (p.Ser5Leu)

NM_004380.2(CREBBP):c.5967delG (p.Thr1990Profs)

NM_153759.3(DNMT3A):c.935A>G (p.Asn312Ser)

NM_001429.3(EP300):c.2173A>G (p.Ile725Val)

NM_001005862.2(ERBB2):c.293C>G (p.Pro98Arg)

NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp)

NM_000123.3(ERCC5):c.1340C>T (p.Ala447Val)

NM_000135.2(FANCA):c.857A>G (p.Gln286Arg)

NM_000135.2(FANCA):c.623C>T (p.Ser208Leu)

NM_021922.2(FANCE):c.1058C>T (p.Pro353Leu)

NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu)

NM_004119.2(FLT3):c.2918G>A (p.Arg973Gln)

NM_016592.3(GNAS):c.715C>A (p.Pro239Thr)

NM_002185.3(IL7R):c.1357T>C (p.Ser453Pro)

NM_001146702.1(KDM5C):c.4049C>G (p.Pro1350Arg)

NM_000244.3(MEN1):c.1480C>T (p.Pro494Ser)

NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val)

NM_170606.2(KMT2C):c.1795G>T (p.Asp599Tyr)

NM_170606.2(KMT2C):c.11374C>A (p.Gln3792Lys)

NM_000251.2(MSH2):c.1798G>T (p.Ala600Ser)

NM_000268.3(NF2):c.1753G>A (p.Ala585Thr)

NM_017617.4(NOTCH1):c.7400C>T (p.Ser2467Leu)

NM_014159.6(SETD2):c.2704G>C (p.Glu902Gln)

NM_016169.3(SUFU):c.1022C>T (p.Pro341Leu)

NM_006290.3(TNFAIP3):c.322A>G (p.Thr108Ala)

NM_000548.4(TSC2):c.3413G>A (p.Arg1138Gln)

NM_000553.4(WRN):c.107G>A (p.Arg36Gln)

NM_004628.4(XPC):c.860T>G (p.Phe287Cys)

NM_000400.3(ERCC2):c.1119-173T>A

NM_002136.3(HNRNPA1):c.823C>T (p.Pro275Ser)

NM_006087.3(TUBB4A):c.1228G>A (p.Glu410Lys)

NM_000038.5(APC):c.7536T>C (p.Ser2512=)

NM_000051.3(ATM):c.6333T>C (p.His2111=)

NM_000077.4(CDKN2A):c.9_32dup24 (p.Pro11_Ser12insAlaAlaGlySerSerMetGluPro)

NM_000264.3(PTCH1):c.2177C>G (p.Pro726Arg)

NM_000455.4(STK11):c.723T>C (p.Ala241=)

NM_001127500.2(MET):c.959C>T (p.Ala320Val)

NM_007294.3(BRCA1):c.3432G>A (p.Gln1144=)

NM_007294.3(BRCA1):c.66A>C (p.Leu22Phe)

NM_058216.2(RAD51C):c.1128A>G (p.Leu376=)

NM_032043.2(BRIP1):c.2038T>C (p.Leu680=)

SMARCAD1, IVS1, T-C, +2

NM_001029.3(RPS26):c.259C>T (p.Arg87Ter)

NM_005957.4(MTHFR):c.1969T>C (p.Ter657Arg)

NM_004409.4(DMPK):c.*224_*226[313]

NM_004409.4(DMPK):c.*224_*226[563]

NM_004608.3(TBX6):c.434C>T (p.Pro145Leu)

NM_000179.2(MSH6):c.2203C>A (p.Leu735Ile)

NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs)

NM_001110792.1(MECP2):c.1269_1279delCGTCTGCAAAG (p.Ser423Argfs)

NM_004992.3(MECP2):c.1129_1193del65 (p.Lys377Profs)

NM_003001.3(SDHC):c.224G>A (p.Gly75Asp)

NM_001165963.1(SCN1A):c.4044G>A (p.Met1348Ile)

NM_001165963.1(SCN1A):c.3705+2T>A

NM_001165963.1(SCN1A):c.1834C>T (p.Arg612Ter)

NM_173354.4(SIK1):c.1840C>T (p.Gln614Ter)

NM_000082.3(ERCC8):c.363T>C (p.Asp121=)

NM_015100.3(POGZ):c.2711T>A (p.Leu904Ter)

NM_002055.4(GFAP):c.1118A>C (p.Glu373Ala)

NM_016218.3(POLK):c.*66T>C

NM_006393.2(NEBL):c.2054C>T (p.Ala685Val)

NM_001142769.1(PCDH15):c.5295A>G (p.Pro1765=)

NM_001277269.1(OTOG):c.5840C>T (p.Thr1947Met)

NM_000260.3(MYO7A):c.3702C>G (p.Thr1234=)

NM_012226.4(P2RX2):c.546G>A (p.Glu182=)

NM_173591.3(OTOGL):c.5033A>G (p.Asn1678Ser)

NM_003276.2(TMPO):c.1730C>T (p.Ala577Val)

NM_001201397.1(EDNRB):c.224T>C (p.Leu75Pro)

NC_000015.10:g.(?_43600534)_(43609334_?)dup

NM_016239.3(MYO15A):c.1047C>T (p.Tyr349=)

NM_001042492.2(NF1):c.1845+13A>T

NM_003803.3(MYOM1):c.1392G>A (p.Arg464=)

NM_001145809.1(MYH14):c.858C>T (p.Gly286=)

NM_001146077.1(CLDN14):c.363C>T (p.Gly121=)

NM_080860.3(RSPH1):c.579A>G (p.Arg193=)

NM_002473.5(MYH9):c.1176G>A (p.Pro392=)

NM_021991.2(JUP):c.762C>T (p.Leu254=)

NM_144991.2(TSPEAR):c.1335A>G (p.Glu445=)

NM_003000.2(SDHB):c.445C>T (p.Gln149Ter)

NM_000465.3(BARD1):c.1107A>T (p.Lys369Asn)

NM_000465.3(BARD1):c.592G>T (p.Ala198Ser)

NM_000179.2(MSH6):c.2372G>A (p.Arg791His)

NM_000038.5(APC):c.2474A>G (p.Tyr825Cys)

NM_000038.5(APC):c.2879_2883delCAAAT (p.Ser960Terfs)

NM_000059.3(BRCA2):c.316+2009T>A

NM_000059.3(BRCA2):c.317-349A>G

NM_000059.3(BRCA2):c.8331+3223_8331+3226dup

NM_006343.2(MERTK):c.2214delT (p.Cys738Trpfs)

NM_001256850.1(TTN):c.64288_64291delCCAAinsTCT (p.Pro21430Serfs)

NM_024582.4(FAT4):c.5597C>T (p.Thr1866Met)

NM_000083.2(CLCN1):c.774+1G>A

NM_000466.2(PEX1):c.2614C>T (p.Arg872Ter)

NM_021150.3(GRIP1):c.1600A>C (p.Ile534Leu)

NM_000138.4(FBN1):c.3238delC (p.Leu1080Serfs)

NM_016373.3(WWOX):c.410-1G>A

NM_001139.2(ALOX12B):c.242delC (p.Pro81Leufs)

NM_000271.4(NPC1):c.1819C>T (p.Arg607Ter)

NM_007194.3(CHEK2):c.683+1G>C

NM_000397.3(CYBB):c.484-2A>T

NM_001083614.1(EARS2):c.*15G>C

NR_033294.1(SNORD118):n.-7_22dup

NM_174936.3(PCSK9):c.799+64C>A

NM_000384.2(APOB):c.3491G>C (p.Arg1164Thr)

NM_000352.4(ABCC8):c.4146T>G (p.Ser1382Arg)

NM_003590.4(CUL3):c.1377G>A (p.Lys459=)

NM_003632.2(CNTNAP1):c.2444C>A (p.Thr815Asn)

NM_000059.3(BRCA2):c.2748delT (p.Cys916Trpfs)

NM_000059.3(BRCA2):c.3723delT (p.Phe1241Leufs)

NM_000059.3(BRCA2):c.4476dupA (p.Glu1493Argfs)

NM_007294.3(BRCA1):c.3917delT (p.Leu1306Terfs)

NM_007294.3(BRCA1):c.3412G>T (p.Gly1138Ter)

NM_007294.3(BRCA1):c.2903_2904insTC (p.Asn969Glnfs)

NM_007294.3(BRCA1):c.2481delA (p.Gly828Alafs)

NM_007294.3(BRCA1):c.2090dupT (p.Glu699Argfs)

NM_007294.3(BRCA1):c.1419_1422delCTTA (p.Asn473Lysfs)

46;XY;t(20;22)(q13.3;q11.2)

46;XX;t(4;13)(q31.3;q14.3)dn

46;XY;t(2;12)(p25.1;p11.2)dn

46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn

NM_181789.2(GLDN):c.541+1G>A

NM_005993.4(TBCD):c.2810C>G (p.Pro937Arg)

NM_001035.2(RYR2):c.1918A>G (p.Arg640Gly)

NM_000784.3(CYP27A1):c.1263+10delG

NM_024408.3(NOTCH2):c.5214-10A>G

NM_001048166.1(STIL):c.2755C>T (p.Pro919Ser)

NM_001177317.1(SLC34A3):c.978C>T (p.Ile326=)

NM_015909.3(NBAS):c.3136G>A (p.Val1046Met)

NM_001165927.1(MKS1):c.486-10T>C

NM_000463.2(UGT1A1):c.1073A>C (p.Asn358Thr)

NM_000272.3(NPHP1):c.1309T>G (p.Trp437Gly)

NM_015074.3(KIF1B):c.*1117C>T

NM_015074.3(KIF1B):c.*3948G>A

NM_007375.3(TARDBP):c.*1622A>T

NM_002524.4(NRAS):c.*2662G>A

NM_013296.4(GPSM2):c.1263+11G>A

NM_138959.2(VANGL1):c.*6128T>C

NM_013319.2(UBIAD1):c.*1671G>A

NM_003051.3(SLC16A1):c.1342T>C (p.Leu448=)

NM_006610.3(MASP2):c.395C>T (p.Ala132Val)

NM_138959.2(VANGL1):c.*2489C>T

NM_138959.2(VANGL1):c.316G>A (p.Asp106Asn)

NM_000702.3(ATP1A2):c.*253C>T

NM_022089.3(ATP13A2):c.1309C>G (p.Leu437Val)

NM_014625.3(NPHS2):c.*209C>G

NM_000130.4(F5):c.111T>A (p.Ala37=)

NM_000639.2(FASLG):c.*120G>A

NM_031935.2(HMCN1):c.-25dupG

NM_005562.2(LAMC2):c.503+14G>A

NM_031935.2(HMCN1):c.4382A>G (p.Asn1461Ser)

NM_031935.2(HMCN1):c.8094G>A (p.Ala2698=)

NM_024529.4(CDC73):c.*1985T>A

NM_000186.3(CFH):c.1548T>A (p.Asn516Lys)

NM_030787.3(CFHR5):c.608-3T>A

NM_000130.4(F5):c.*1939T>C

NM_018136.4(ASPM):c.10279A>G (p.Ile3427Val)

NM_000130.4(F5):c.4959T>A (p.Asp1653Glu)

NM_201253.2(CRB1):c.*158G>T

NM_000069.2(CACNA1S):c.2561A>C (p.Tyr854Ser)

NM_001005337.2(PKP1):c.*349A>G

NM_006894.5(FMO3):c.979T>G (p.Phe327Val)

NM_002065.6(GLUL):c.*2118T>C

NM_001106.3(ACVR2B):c.*133A>T

NM_001106.3(ACVR2B):c.*3090C>T

NM_031955.5(SPATA16):c.149A>G (p.Asn50Ser)

NM_181426.1(CCDC39):c.880A>G (p.Arg294Gly)

NM_000996.2(RPL35A):c.-37T>G

NM_024513.3(FYCO1):c.1464A>T (p.Ala488=)

NM_003494.3(DYSF):c.1730C>T (p.Ala577Val)

NM_015141.3(GPD1L):c.*2666G>A

NM_017849.3(TMEM127):c.*2760A>C

NM_004836.6(EIF2AK3):c.2135T>C (p.Ile712Thr)

NM_017849.3(TMEM127):c.299G>C (p.Cys100Ser)

NM_020208.3(SLC6A20):c.*1344G>A

NM_016247.3(IMPG2):c.*3049G>A

NM_000551.3(VHL):c.*1419A>G

NM_000316.2(PTH1R):c.-37G>A

NM_198196.2(CD96):c.1018G>A (p.Val340Ile)

NM_020754.3(ARHGAP31):c.843C>T (p.Gly281=)

NM_198196.2(CD96):c.*2093_*2097delAGAAA

NM_001023570.3(IQCB1):c.-147delT

NM_000481.3(AMT):c.*424G>C

NM_053025.3(MYLK):c.2829G>T (p.Arg943Ser)

NM_032638.4(GATA2):c.*24G>A

NM_004637.5(RAB7A):c.*1374G>A

NM_052985.3(IFT122):c.982C>T (p.Arg328Trp)

NM_014382.3(ATP2C1):c.*326_*329delATCT

NM_001063.3(TF):c.585G>A (p.Gly195=)

NM_020191.2(MRPS22):c.327A>G (p.Ala109=)

NM_004519.3(KCNQ3):c.-135_-134dupGG

NM_006096.3(NDRG1):c.306C>T (p.Gly102=)

NM_031466.7(TRAPPC9):c.1099C>T (p.Arg367Trp)

NM_000498.3(CYP11B2):c.*239T>C

NM_017780.3(CHD7):c.7082G>A (p.Arg2361Lys)

NM_000503.5(EYA1):c.*1310G>A

NM_017651.4(AHI1):c.*218C>T

NM_153704.5(TMEM67):c.2928T>C (p.Asn976=)

NM_006208.2(ENPP1):c.*1350G>A

NM_172105.3(EYA4):c.-76C>T

NM_003764.3(STX11):c.*2920T>C

NM_203395.2(IYD):c.*461delT

NM_203395.2(IYD):c.*2535T>G

NM_014855.2(AP5Z1):c.*1266C>T

NM_203395.2(IYD):c.*6375delC

NM_001710.5(CFB):c.1593T>C (p.Asp531=)

NM_000367.4(TPMT):c.*1658C>A

NM_000063.5(C2):c.-37C>A

NM_015713.4(RRM2B):c.*3395C>G

NM_178857.5(RP1L1):c.1297C>T (p.Arg433Cys)

NM_178857.5(RP1L1):c.40C>G (p.Arg14Gly)

NM_014112.4(TRPS1):c.*4315T>G

NM_001715.2(BLK):c.424A>G (p.Ile142Val)

NM_024757.4(EHMT1):c.2664C>T (p.Leu888=)

NM_020745.3(AARS2):c.761G>C (p.Gly254Ala)

NM_002451.3(MTAP):c.*884T>A

NM_001497.3(B4GALT1):c.*2041G>A

NM_007126.3(VCP):c.1092C>T (p.Asp364=)

NM_003289.3(TPM2):c.773-5_773-3dupCCC

NM_001042413.1(GLIS3):c.*2326C>T

NM_014290.2(TDRD7):c.2791C>T (p.Pro931Ser)

NM_213599.2(ANO5):c.*3077G>C

NM_000218.2(KCNQ1):c.*742G>A

NM_000280.4(PAX6):c.*3246_*3247insTTTT

NM_003477.2(PDHX):c.-88C>A

NM_021926.3(ALX4):c.*3999C>T

NM_015915.4(ATL1):c.1623T>G (p.Ala541=)

NM_000506.4(F2):c.730G>T (p.Ala244Ser)

NM_005982.3(SIX1):c.*404A>G

NM_002382.4(MAX):c.*404C>T

NM_000327.3(ROM1):c.70C>T (p.Leu24Phe)

NM_000543.4(SMPD1):c.*183T>G

NM_031427.3(DNAL1):c.*2399G>A

NM_144585.3(SLC22A12):c.*643A>G

NM_014915.2(ANKRD26):c.4188T>C (p.Asp1396=)

NM_031427.3(DNAL1):c.*7729C>G

NM_001143985.1(BANF1):c.*209T>G

NM_013382.5(POMT2):c.*2325A>G

NM_000124.3(ERCC6):c.*53T>C

NM_000417.2(IL2RA):c.*1026G>T

NM_001083116.1(PRF1):c.695G>A (p.Arg232His)

NM_032844.4(MASTL):c.-170C>T

NM_021252.4(RAB18):c.*504A>G

NM_000260.3(MYO7A):c.2282+5G>A

NM_022124.5(CDH23):c.*1C>G

NM_002420.5(TRPM1):c.4183G>A (p.Val1395Ile)

NM_002778.3(PSAP):c.189C>T (p.Cys63=)

NM_000124.3(ERCC6):c.1432_1433insTC (p.Lys478Ilefs)

NM_000242.2(MBL2):c.*1275T>C

NM_144508.4(KNL1):c.1291T>C (p.Ser431Pro)

NM_138477.2(CDAN1):c.1740-10T>A

NM_000246.3(CIITA):c.781C>T (p.Pro261Ser)

NM_001040114.1(MYH11):c.3880-173T>C

NM_004970.2(IGFALS):c.1466T>C (p.Val489Ala)

NM_001089.2(ABCA3):c.*203T>G

NM_000294.2(PHKG2):c.448G>A (p.Val150Met)

NM_006892.3(DNMT3B):c.341G>A (p.Arg114Gln)

NM_000178.3(GSS):c.-29T>A

NM_015474.3(SAMHD1):c.-110T>C

NM_030777.3(SLC2A10):c.*182T>G

NM_001099274.1(TINF2):c.62A>G (p.Gln21Arg)

NM_004614.4(TK2):c.*2122G>A

NM_000782.4(CYP24A1):c.*140T>C

NM_004360.4(CDH1):c.*474_*475dupTT

NM_001605.2(AARS):c.2580G>A (p.Leu860=)

NM_002408.3(MGAT2):c.971C>G (p.Thr324Ser)

NM_012213.2(MLYCD):c.734C>G (p.Thr245Ser)

NM_178452.5(DNAAF1):c.1728C>T (p.Ile576=)

NM_001451.2(FOXF1):c.*1137A>G

NM_015192.3(PLCB1):c.*2030_*2033delAGAA

NM_182914.2(SYNE2):c.20286T>C (p.Cys6762=)

NM_000303.2(PMM2):c.*96G>C

NM_000628.4(IL10RB):c.727G>A (p.Ala243Thr)

NM_015346.3(ZFYVE26):c.*960G>A

NM_001754.4(RUNX1):c.*4147C>G

NM_000411.6(HLCS):c.*1097G>A

NM_000211.4(ITGB2):c.1804G>A (p.Glu602Lys)

NM_130445.3(COL18A1):c.603C>T (p.Ala201=)

NM_130445.3(COL18A1):c.2429G>A (p.Arg810Gln)

NM_130445.3(COL18A1):c.*851C>T

NM_015559.2(SETBP1):c.874T>A (p.Ser292Thr)

NM_002294.2(LAMP2):c.*5048A>T

NM_015559.2(SETBP1):c.*2063_*2066delGATA

NM_000453.2(SLC5A5):c.*897C>T

NM_001080467.2(MYO5B):c.756+6T>C

NM_001039891.2(ZNF674):c.*1284C>T

NM_003334.3(UBA1):c.1340G>A (p.Arg447His)

NM_000084.4(CLCN5):c.1704C>T (p.Pro568=)

NM_003573.2(LTBP4):c.2771-10C>G

NM_000084.4(CLCN5):c.*6608C>T

NM_006306.3(SMC1A):c.*348C>T

NM_000709.3(BCKDHA):c.*17C>T

NM_002637.3(PHKA1):c.*1151C>T

NM_024921.3(POF1B):c.1300C>A (p.Gln434Lys)

NM_000554.5(CRX):c.*756dupT

NM_000095.2(COMP):c.620G>A (p.Gly207Asp)

NM_001031726.3(C19orf12):c.*3242C>T

NM_000285.3(PEPD):c.447C>T (p.Gly149=)

NM_000214.2(JAG1):c.1439C>T (p.Ala480Val)

NM_006363.4(SEC23B):c.*657A>G

NM_001083961.1(WDR62):c.2787C>T (p.Pro929=)

NM_000361.2(THBD):c.*1689C>T

NM_017827.3(SARS2):c.589+4G>A

NM_181882.2(PRX):c.2071A>C (p.Met691Leu)

NM_212550.4(BLOC1S3):c.-10+4C>G

NM_000457.4(HNF4A):c.*1087G>C

NM_000400.3(ERCC2):c.949+9C>T

NM_004994.2(MMP9):c.1174+14C>T

NM_025136.3(OPA3):c.*6275T>C

NM_006420.2(ARFGEF2):c.5063C>T (p.Thr1688Ile)

NM_025219.2(DNAJC5):c.*4300C>T

NM_000933.3(PLCB4):c.3498C>T (p.Gly1166=)

NM_000484.3(APP):c.592T>C (p.Ser198Pro)

NM_000219.5(KCNE1):c.*1556G>A

NM_018848.3(MKKS):c.-495C>A

NM_020639.2(RIPK4):c.*729C>T

NM_198994.2(TGM6):c.422C>A (p.Ala141Glu)

NM_000071.2(CBS):c.-160C>T

NM_015338.5(ASXL1):c.3029C>T (p.Thr1010Met)

NM_006657.2(FTCD):c.192C>T (p.Asn64=)

NM_014339.6(IL17RA):c.1400T>C (p.Leu467Pro)

NM_000022.3(ADA):c.834T>C (p.His278=)

NM_014339.6(IL17RA):c.*1826A>G

NM_000311.4(PRNP):c.*101_*103delTCT

NM_025219.2(DNAJC5):c.*1557T>G

NM_015192.3(PLCB1):c.288G>T (p.Gly96=)

NM_001754.4(RUNX1):c.*1455A>G

NM_144492.2(CLDN14):c.-75G>T

NM_014141.5(CNTNAP2):c.3990C>T (p.Leu1330=)

NM_004281.3(BAG3):c.1503C>A (p.Val501=)

NM_006393.2(NEBL):c.2518+20C>T

NM_000256.3(MYBPC3):c.240A>G (p.Ala80=)

NM_012229.4(NT5C2):c.1647C>T (p.Asp549=)

NM_000920.3(PC):c.3288+20C>T

NM_000019.3(ACAT1):c.85G>T (p.Val29Leu)

NM_000051.3(ATM):c.*1T>A

NM_152416.3(NDUFAF6):c.220T>C (p.Leu74=)

NM_000051.3(ATM):c.4615T>C (p.Leu1539=)

NM_005472.4(KCNE3):c.-40-17T>C

NM_024678.5(NARS2):c.260A>C (p.Asn87Thr)

NM_020822.2(KCNT1):c.1619+18C>T

NM_024537.3(CARS2):c.1239T>C (p.Asp413=)

NM_015531.5(C2CD3):c.265A>G (p.Arg89Gly)

NM_032634.3(PIGO):c.102G>A (p.Glu34=)

NM_002206.2(ITGA7):c.609C>T (p.Ala203=)

NM_004572.3(PKP2):c.2448C>T (p.Thr816=)

NM_000059.3(BRCA2):c.7215C>A (p.Val2405=)

NM_007078.2(LDB3):c.1858-11C>A

NM_000138.4(FBN1):c.1290A>G (p.Pro430=)

NM_194318.3(B3GLCT):c.1405G>T (p.Asp469Tyr)

NM_000051.3(ATM):c.72+6A>G

NM_005477.2(HCN4):c.1443C>T (p.Tyr481=)

NM_020778.4(ALPK3):c.597G>T (p.Glu199Asp)

NM_000059.3(BRCA2):c.7976+18C>T

NM_015915.4(ATL1):c.322A>G (p.Thr108Ala)

NM_004863.3(SPTLC2):c.1614G>A (p.Lys538=)

NM_032374.4(APOPT1):c.47T>C (p.Val16Ala)

NM_024675.3(PALB2):c.2043A>G (p.Lys681=)

NM_005050.3(ABCD4):c.815-13G>C

NM_005881.3(BCKDK):c.249C>A (p.Asp83Glu)

NM_024698.5(SLC25A22):c.743-9C>T

NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu)

NM_002693.2(POLG):c.1949+3A>G

NM_000070.2(CAPN3):c.1308C>T (p.Gly436=)

NM_015386.2(COG4):c.1710+14T>C

NM_001271.3(CHD2):c.2353-10A>G

NM_000138.4(FBN1):c.4413G>A (p.Glu1471=)

NM_002474.2(MYH11):c.3168G>A (p.Leu1056=)

NM_002755.3(MAP2K1):c.1068+18G>A

NM_001256850.1(TTN):c.81378G>A (p.Lys27126=)

NM_133378.4(TTN):c.83130T>A (p.Ser27710Arg)

NM_133378.4(TTN):c.87538C>T (p.Arg29180Cys)

NM_001256850.1(TTN):c.9077A>T (p.Asn3026Ile)

NM_133378.4(TTN):c.94891A>G (p.Ile31631Val)

NM_133378.4(TTN):c.98084C>T (p.Ala32695Val)

NM_133379.4(TTN):c.13347A>G (p.Ile4449Met)

NM_133379.4(TTN):c.16432G>A (p.Val5478Met)

NM_133378.4(TTN):c.10303+2760G>A

NM_144573.3(NEXN):c.298+10T>C

NM_144672.3(OTOA):c.1630-5C>T

NM_005709.3(USH1C):c.1558G>A (p.Ala520Thr)

NM_170707.3(LMNA):c.1851C>T (p.Ala617=)

NM_000503.5(EYA1):c.1697_1698insT (p.Lys566Asnfs)

NM_178335.2(CCDC50):c.363A>T (p.Leu121Phe)

NM_194248.2(OTOF):c.2650G>A (p.Ala884Thr)

NM_194248.2(OTOF):c.5103+7C>T

NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=)

NM_206933.2(USH2A):c.10712C>T (p.Thr3571Met)

NM_206933.2(USH2A):c.12714T>G (p.Tyr4238Ter)

NM_206933.2(USH2A):c.15091C>T (p.Arg5031Trp)

NM_007123.5(USH2A):c.3700A>G (p.Ile1234Val)

NM_000277.1(PAH):c.1139C>T (p.Thr380Met)

NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)

F5, 4-BP DEL, EX13

NM_198488.3(FAM83H):c.860C>A (p.Ser287Ter)

NM_015141.3(GPD1L):c.839C>T (p.Ala280Val)

NM_080669.5(SLC46A1):c.1082-1G>A

G6PC3, 1-BP DUP, 935T

NM_014362.3(HIBCH):c.365A>G (p.Tyr122Cys)

NM_001029871.3(RSPO4):c.194A>G (p.Gln65Arg)

NM_152419.2(HGSNAT):c.525dupT (p.Val176Cysfs)

NM_017837.3(PIGV):c.766C>A (p.Gln256Lys)

BBS10, SER303 FS

NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter)

NM_000022.3(ADA):c.821C>T (p.Pro274Leu)

NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn)

NM_000495.4(COL4A5):c.3428G>A (p.Gly1143Asp)

NM_020061.5(OPN1LW):c.538G= (p.Ala180=)

RP2, 1-BP INS, 303T

NM_000133.3(F9):c.710A>T (p.Gln237Leu)

NM_000133.3(F9):c.484C>T (p.Arg162Ter)

NM_000266.3(NDP):c.1A>G (p.Met1Val)

NM_000169.2(GLA):c.806T>C (p.Val269Ala)

NM_003916.4(AP1S2):c.106C>T (p.Gln36Ter)

PHEX, IVS7, +1268, G-T

FANCB, 3314-BP DEL

BCOR, IVS8AS, G-T, -1

NM_000475.4(NR0B1):c.1183C>T (p.Gln395Ter)

NM_000531.5(OTC):c.148G>T (p.Gly50Ter)

NM_001399.4(EDA):c.1013C>T (p.Thr338Met)

PLP1, DUP

NM_182680.1(AMELX):c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr)

NM_002621.2(CFP):c.617C>G (p.Ser206Ter)

DMD, IVS26, T-G, +2

DMD, IVS70, G-A, +1

NM_004085.3(TIMM8A):c.148_157delAAGCCTGGGC (p.Lys50Glnfs)

BTK, 1-BP DEL/3-BP INS, CODON 261

NM_022567.2(NYX):c.105C>A (p.Cys35Ter)

NM_005448.2(BMP15):c.538G>A (p.Ala180Thr)

NM_000047.2(ARSE):c.332G>C (p.Arg111Pro)

NM_004299.4(ABCB7):c.1203T>G (p.Ile401Met)

NM_004595.4(SMS):c.166G>A (p.Gly56Ser)

SMC1A, 15-BP DEL, NT173

NM_000489.4(ATRX):c.6104A>T (p.Asp2035Val)

NM_001110556.1(FLNA):c.862G>A (p.Gly288Arg)

MECP2, 14-BP DUP, NT766

NM_002769.4(PRSS1):c.86A>T (p.Asn29Ile)

NM_000203.4(IDUA):c.1037T>G (p.Leu346Arg)

AMT, 1-BP DEL, 183C

NM_004453.3(ETFDH):c.524G>T (p.Arg175Leu)

F7, 10-BP INS, NT-323

C2, GLY444ARG

NM_004360.4(CDH1):c.781G>T (p.Glu261Ter)

NM_000463.2(UGT1A1):c.524T>A (p.Leu175Gln)

NM_001128177.1(THRB):c.929T>C (p.Met310Thr)

NM_004985.4(KRAS):c.101C>G (p.Pro34Arg)

NM_000458.3(HNF1B):c.1395C>G (p.Ser465Arg)

TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-T

NM_004356.3(CD81):c.561+1G>A

NM_004572.3(PKP2):c.1759G>A (p.Val587Ile)

NM_001035.2(RYR2):c.14809-15C>G

STAT3:c.1601-72_1601-71del

NM_000570.4(FCGR3B):c.108C= (p.Ser36=)

NM_007294.3(BRCA1):c.4075C>G (p.Gln1359Glu)

NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly)

NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala)

NM_000059.3(BRCA2):c.1029delA (p.Lys343Asnfs)

NM_000059.3(BRCA2):c.2152G>A (p.Glu718Lys)

NM_000059.3(BRCA2):c.3218A>G (p.Gln1073Arg)

NM_000059.3(BRCA2):c.4131_4132ins6

NM_000059.3(BRCA2):c.4921_4924delGAAA (p.Glu1641Metfs)

NM_000059.3(BRCA2):c.5672C>T (p.Ala1891Val)

NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser)

NM_000059.3(BRCA2):c.740_741insAG (p.Ser249Leufs)

NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn)

NM_000059.3(BRCA2):c.8904delC (p.Val2969Cysfs)

NM_000059.3(BRCA2):c.9501+3A>T

NM_000168.5(GLI3):c.2058_2059delGGinsAT (p.Glu687Ter)

NM_002437.4(MPV17):c.70+5G>A

NM_024312.4(GNPTAB):c.1985C>G (p.Ala662Gly)

NM_000495.3(COL4A5):c.1-?_5058+?del

NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His)

NM_001099274.1(TINF2):c.841G>A (p.Glu281Lys)

NM_003722.4(TP63):c.1846delC (p.Leu616Serfs)

NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu)

NM_024312.4(GNPTAB):c.3328dupA (p.Tyr1111Ilefs)

NM_198253.2(TERT):c.97C>T (p.Pro33Ser)

NM_198578.3(LRRK2):c.4125C>A (p.Asp1375Glu)

NM_198578.3(LRRK2):c.6428G>A (p.Arg2143His)

NM_198578.3(LRRK2):c.6523G>C (p.Asp2175His)

NM_198506.4(LRIT3):c.1151C>G (p.Ser384Ter)

NM_004826.3(ECEL1):c.1252C>T (p.Arg418Cys)

NM_001139.2(ALOX12B):c.410T>A (p.Ile137Asn)

NM_003573.2(LTBP4):c.4115dupC (p.Tyr1373Ilefs)

NM_001014431.1(AKT1):c.1303A>C (p.Thr435Pro)

NM_000059.3(BRCA2):c.8363G>C (p.Trp2788Ser)

NM_000059.3(BRCA2):c.8754+1G>A

NM_000059.3(BRCA2):c.8978C>A (p.Ser2993Ter)

NM_000059.3(BRCA2):c.9177delA (p.Lys3059Asnfs)

NM_000059.3(BRCA2):c.9356T>G (p.Leu3119Ter)

NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs)

NM_000218.2(KCNQ1):c.1842_1844delCCA (p.His614del)

NM_000218.2(KCNQ1):c.568C>T (p.Arg190Trp)

NM_000218.2(KCNQ1):c.904G>A (p.Ala302Thr)

NM_000492.3(CFTR):c.1043T>A (p.Met348Lys)

NM_000492.3(CFTR):c.1253A>G (p.Asn418Ser)

NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr)

NM_000492.3(CFTR):c.1674delA (p.Ala559Glnfs)

NM_000492.3(CFTR):c.1766+1G>T

NM_000492.3(CFTR):c.202A>G (p.Lys68Glu)

NM_000492.3(CFTR):c.236G>A (p.Trp79Ter)

NM_000492.3(CFTR):c.263T>A (p.Leu88Ter)

NM_000492.3(CFTR):c.2861A>C (p.His954Pro)

NM_000492.3(CFTR):c.302T>G (p.Leu101Ter)

NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp)

NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg)

NM_000492.3(CFTR):c.364T>C (p.Tyr122His)

NM_000492.3(CFTR):c.3883delA (p.Ile1295Phefs)

NM_000492.3(CFTR):c.410T>G (p.Leu137Arg)

NM_000492.3(CFTR):c.4333G>A (p.Asp1445Asn)

NM_000492.3(CFTR):c.531delT (p.Ile177Metfs)

NM_000492.3(CFTR):c.695T>A (p.Val232Asp)

NM_000492.3(CFTR):c.95T>C (p.Leu32Pro)

NM_007294.3(BRCA1):c.1403delA (p.Lys468Argfs)

NM_007294.3(BRCA1):c.1565_1566insC (p.Leu523Phefs)

NM_007294.3(BRCA1):c.1768A>G (p.Ser590Gly)

NM_007294.3(BRCA1):c.190_193delTGTA (p.Cys64Argfs)

NM_007294.3(BRCA1):c.203T>G (p.Ile68Arg)

NM_007294.3(BRCA1):c.2197_2201delGAGAA (p.Glu733Thrfs)

NM_007294.3(BRCA1):c.2354T>A (p.Leu785Ter)

NM_007294.3(BRCA1):c.4618G>T (p.Glu1540Ter)

NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter)

NM_007294.3(BRCA1):c.4986+3G>C

NM_007294.3(BRCA1):c.5087T>A (p.Val1696Glu)

NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe)

NM_007294.3(BRCA1):c.5270_5276delACAGAAA (p.Asp1757Glyfs)

NM_007294.3(BRCA1):c.5345G>A (p.Trp1782Ter)

NM_007294.3(BRCA1):c.5488G>A (p.Ala1830Thr)

NM_007294.3(BRCA1):c.594-2A>G

NM_007294.3(BRCA1):c.775delG (p.Glu259Lysfs)

NM_007294.3(BRCA1):c.903_904insC (p.Ala302Argfs)

NM_001278689.1(EOGT):c.620G>C (p.Trp207Ser)

NM_001258221.1(KCTD1):c.92C>G (p.Pro31Arg)

NM_000100.3(CSTB):c.-210_-199(30_125)

NM_000111.2(SLC26A3):c.610T>G (p.Tyr204Asp)

NM_000170.2(GLDC):c.2105C>T (p.Thr702Ile)

NM_000170.2(GLDC):c.985C>A (p.Pro329Thr)

NM_000224.2(KRT18):c.1230C>G (p.Thr410=)

NM_000310.3(PPT1):c.749G>T (p.Gly250Val)

NM_001042432.1(CLN3):c.378_379dupCC (p.Arg127Profs)

NM_001081.3(CUBN):c.1230+1G>A

NM_001126105.2(SLC7A7):c.454T>C (p.Phe152Leu)

NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg)

NM_004646.3(NPHS1):c.2227delC (p.Arg743Valfs)

NM_004646.3(NPHS1):c.692C>A (p.Ser231Ter)

NM_015294.4(TRIM37):c.810-1G>A

NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs)

NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser)

NP_000081.1:p.Gly177_Pro194del

NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg)

NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg)

NM_006092.2(NOD1):c.2537+394T>A

NM_032206.4(NLRC5):c.1625C>A (p.Thr542Asn)

NM_032206.4(NLRC5):c.5237+51G>A

NM_138329.2(NLRP6):c.582G>A (p.Arg194=)

NM_176810.2(NLRP13):c.2037G>T (p.Lys679Asn)

NM_178844.3(NLRC3):c.1487G>A (p.Arg496Lys)

NM_000619.2(IFNG):c.367-419T>C

NM_000237.2(LPL):c.*364A>C

NM_017637.5(BNC2):c.501C>T (p.Val167=)

NM_000277.1(PAH):c.887A>G (p.Asp296Gly)

NM_001080442.2(SLC38A8):c.845_847delCTG (p.Ala282del)

NM_007294.3(BRCA1):c.80+1G>C

NM_007294.3(BRCA1):c.2995_2996delCTinsTA (p.Leu999Ter)

NM_007294.3(BRCA1):c.302-87T>C

NM_007294.3(BRCA1):c.4843dupG (p.Ala1615Glyfs)

U14680.1:n.5389_5395delCAGAAAG

NM_007294.3(BRCA1):c.5563delAins6

NM_000059.3(BRCA2):c.1114A= (p.Asn372=)

NM_000059.3(BRCA2):c.2899_2900delCT (p.Leu967Argfs)

NM_000059.3(BRCA2):c.5270_5286del17 (p.Tyr1757Serfs)

NM_000059.3(BRCA2):c.7435+53C>T

NM_000059.3(BRCA2):c.8954-1del3insAA

NM_025114.3(CEP290):c.297+36A>G

NM_153704.5(TMEM67):c.2397T>C (p.Asp799=)

NM_001128849.1(SMARCA4):c.1114T>C (p.Tyr372His)

NM_015474.3(SAMHD1):c.428G>A (p.Arg143His)

NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys)

NM_000051.3(ATM):c.7354C>G (p.Leu2452Val)

NM_000057.3(BLM):c.274A>G (p.Asn92Asp)

NM_000136.2(FANCC):c.542C>T (p.Ala181Val)

NM_000535.6(PMS2):c.1096G>C (p.Asp366His)

NM_003051.3(SLC16A1):c.747_750delTAAT (p.Asn250Serfs)

GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1

GRCh38/hg38 17p12(chr17:14208455-15538752)x1

GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1

GRCh38/hg38 8p23.1(chr8:12182421-12610034)x1

GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3

GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3

NM_152296.4(ATP1A3):c.1072G>T (p.Gly358Cys)

NM_000724.3(CACNB2):c.476G>C (p.Ser159Thr)

NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)

NM_000527.4(LDLR):c.757C>T (p.Arg253Trp)

NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter)

NM_000100.3(CSTB):c.136C>T (p.Gln46Ter)

NM_020190.4(OLFML3):c.402C>G (p.Asp134Glu)

NM_031935.2(HMCN1):c.16792C>T (p.Arg5598Ter)

NM_173550.3(CCDC171):c.2404C>T (p.Arg802Trp)

NM_001004470.2(ST8SIA6):c.344G>T (p.Trp115Leu)

NM_001143773.1(FAM13C):c.1178T>A (p.Leu393His)

NM_001372.3(DNAH9):c.3184A>G (p.Ile1062Val)

NM_014680.3(KIAA0100):c.3387G>A (p.Trp1129Ter)

NM_005177.3(ATP6V0A1):c.1023+1G>T

NM_002524.4(NRAS):c.34G>A (p.Gly12Ser)

NM_206933.2(USH2A):c.5496G>A (p.Val1832=)

NM_001035.2(RYR2):c.5006A>G (p.Asn1669Ser)

NM_001256850.1(TTN):c.80593C>A (p.Gln26865Lys)

NM_001267550.2(TTN):c.80997_81012del16 (p.Tyr26999Terfs)

NM_133378.4(TTN):c.55239T>C (p.Thr18413=)

NM_206933.2(USH2A):c.6730G>A (p.Val2244Met)

NM_133378.4(TTN):c.27125T>C (p.Ile9042Thr)

NM_133378.4(TTN):c.28783G>T (p.Ala9595Ser)

NM_133432.3(TTN):c.11042C>T (p.Thr3681Ile)

NM_133378.4(TTN):c.1349C>T (p.Ala450Val)

NM_194248.2(OTOF):c.3303G>A (p.Gly1101=)

NM_194322.2(OTOF):c.178A>G (p.Lys60Glu)

NM_001369.2(DNAH5):c.6731A>T (p.Lys2244Met)

NM_133378.4(TTN):c.45878-6C>G

NM_003242.5(TGFBR2):c.-8G>A

NM_198056.2(SCN5A):c.3262G>A (p.Ala1088Thr)

NM_000258.2(MYL3):c.*5C>T

NM_000258.2(MYL3):c.4G>C (p.Ala2Pro)

NM_004415.3(DSP):c.3862A>C (p.Lys1288Gln)

NM_001199799.1(ILDR1):c.483A>T (p.Val161=)

NM_006005.3(WFS1):c.128C>T (p.Ala43Val)

NM_000441.1(SLC26A4):c.1342-10C>T

NM_004999.3(MYO6):c.3505C>T (p.Arg1169Cys)

NM_004333.4(BRAF):c.1449A>C (p.Lys483Asn)

NM_000601.5(HGF):c.1891G>A (p.Val631Met)

NC_000008.11:g.(?_71199264)_(71356523_?)del

NM_000337.5(SGCD):c.45T>A (p.Pro15=)

NM_001035.2(RYR2):c.1342C>G (p.Pro448Ala)

NM_001035.2(RYR2):c.2397-16C>T

NM_001035.2(RYR2):c.6916G>A (p.Val2306Ile)

NM_001035.2(RYR2):c.7114C>A (p.Leu2372Ile)

NM_001035.2(RYR2):c.12298G>A (p.Val4100Ile)

NM_198056.2(SCN5A):c.3541G>T (p.Val1181Leu)

NM_198056.2(SCN5A):c.1711delA (p.Ser571Valfs)

NM_198056.2(SCN5A):c.680T>C (p.Leu227Pro)

NM_002474.2(MYH11):c.301G>A (p.Val101Met)

NM_020297.3(ABCC9):c.1252G>A (p.Ala418Thr)

NM_001080522.2(CC2D2A):c.4595_4596delCT (p.Leu1533Valfs)

NM_005732.3(RAD50):c.1487A>C (p.Asn496Thr)

NM_000535.6(PMS2):c.1352G>A (p.Arg451Lys)

NM_000051.3(ATM):c.1628C>T (p.Thr543Ile)

NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser)

NM_005591.3(MRE11):c.924C>T (p.Phe308=)

NM_000059.3(BRCA2):c.6030C>A (p.Val2010=)

NM_000059.3(BRCA2):c.9233delT (p.Val3078Alafs)

NM_000548.4(TSC2):c.849-4T>C

NM_001042492.2(NF1):c.3258G>A (p.Gln1086=)

NM_001042492.2(NF1):c.3796G>C (p.Glu1266Gln)

NM_002878.3(RAD51D):c.66C>T (p.Ser22=)

NM_007294.3(BRCA1):c.5193G>A (p.Glu1731=)

NM_007294.3(BRCA1):c.4063A>G (p.Asn1355Asp)

NM_007294.3(BRCA1):c.3834G>A (p.Lys1278=)

NM_007294.3(BRCA1):c.3139_3180del42 (p.Val1047_Glu1060del)

NM_007194.3(CHEK2):c.86A>G (p.Gln29Arg)

NM_001035.2(RYR2):c.13763T>C (p.Ile4588Thr)

NM_002294.2(LAMP2):c.1201A>G (p.Lys401Glu)

NM_144596.3(TTC8):c.1347G>C (p.Gln449His)

NM_000495.4(COL4A5):c.2723G>A (p.Gly908Glu)

NM_170707.3(LMNA):c.1517A>C (p.His506Pro)

NM_002241.4(KCNJ10):c.136G>A (p.Asp46Asn)

NM_000143.3(FH):c.701C>T (p.Thr234Ile)

NM_003738.4(PTCH2):c.90G>A (p.Leu30=)

NM_006922.3(SCN3A):c.552G>A (p.Thr184=)

NM_001267550.2(TTN):c.88033A>G (p.Thr29345Ala)

NM_001267550.2(TTN):c.58329T>C (p.Ala19443=)

NM_000465.3(BARD1):c.1499A>T (p.Asp500Val)

NM_004304.4(ALK):c.2750C>T (p.Thr917Ile)

NM_000251.2(MSH2):c.1404_1410delCCTTGTA (p.Phe468Leufs)

NM_000179.2(MSH6):c.98G>C (p.Arg33Pro)

NM_000179.2(MSH6):c.2830A>G (p.Ile944Val)

NM_000249.3(MLH1):c.1732-?_*193+?dup

NM_000388.3(CASR):c.427G>A (p.Gly143Arg)

NM_053025.3(MYLK):c.2023G>A (p.Gly675Arg)

NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=)

NM_006514.3(SCN10A):c.2475A>C (p.Glu825Asp)

NM_004656.3(BAP1):c.581-9C>G

NM_006206.4(PDGFRA):c.1673G>A (p.Arg558His)

NM_000222.2(KIT):c.2793C>T (p.Ser931=)

NM_139076.2(FAM175A):c.1102_1104delAAA (p.Lys368del)

NM_005732.3(RAD50):c.1690A>C (p.Thr564Pro)

NM_001369.2(DNAH5):c.12472C>T (p.Arg4158Trp)

NM_001903.4(CTNNA1):c.1782C>T (p.Ala594=)

NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=)

NM_004168.3(SDHA):c.219C>G (p.Gly73=)

NM_002890.2(RASA1):c.1651G>A (p.Glu551Lys)

NM_003227.3(TFR2):c.1473G>A (p.Glu491=)

NM_001277115.1(DNAH11):c.3291C>A (p.Ser1097Arg)

NM_025074.6(FRAS1):c.11056C>T (p.Leu3686=)

NM_001369.2(DNAH5):c.10878G>A (p.Thr3626=)

NM_001369.2(DNAH5):c.3843T>C (p.Tyr1281=)

NM_001369.2(DNAH5):c.976-31C>T

NM_001080479.2(ARHGEF28):c.4642C>T (p.Pro1548Ser)

NM_004385.4(VCAN):c.2234A>C (p.Lys745Thr)

NM_003764.3(STX11):c.546G>A (p.Glu182=)

NM_033071.3(SYNE1):c.10166+12T>C

NM_033071.3(SYNE1):c.9168-13G>A

NM_001145717.1(PNPLA1):c.504+11C>T

NM_138694.3(PKHD1):c.391-43T>A

NM_000129.3(F13A1):c.1704A>G (p.Glu568=)

NM_005045.3(RELN):c.7181-34G>A

NM_012470.3(TNPO3):c.2280T>C (p.Ile760=)

NM_001277115.1(DNAH11):c.6889C>T (p.Leu2297=)

NM_001277115.1(DNAH11):c.13548G>A (p.Ala4516=)

NM_031243.2(HNRNPA2B1):c.1038T>G (p.Gly346=)

NM_016616.4(NME8):c.528+46_528+48delAAC

NM_000168.5(GLI3):c.3001G>A (p.Gly1001Ser)

NM_172218.2(SPAG1):c.2330T>C (p.Met777Thr)

NM_153704.5(TMEM67):c.506+18G>T

NM_152564.4(VPS13B):c.10061+24G>A

NM_001701.3(BAAT):c.602G>C (p.Arg201Pro)

NM_003640.4(IKBKAP):c.3214T>A (p.Cys1072Ser)

NM_005592.3(MUSK):c.920+25delT

NM_000113.2(TOR1A):c.246C>T (p.Ala82=)

NM_139025.4(ADAMTS13):c.582C>T (p.Gly194=)

NM_000093.4(COL5A1):c.4176+19A>C

NM_001128227.2(GNE):c.1374+44G>A

NM_012203.1(GRHPR):c.493+9C>T

NM_001042413.1(GLIS3):c.171C>T (p.Asn57=)

NM_173551.4(ANKS6):c.537A>G (p.Gln179=)

NM_004281.3(BAG3):c.180+43C>T

NM_000043.5(FAS):c.642T>C (p.Thr214=)

NM_016341.3(PLCE1):c.1729G>A (p.Ala577Thr)

NM_004621.5(TRPC6):c.2712G>A (p.Gln904=)

NM_000190.3(HMBS):c.-235T>A

NM_001254757.1(ST3GAL4):c.252C>T (p.Tyr84=)

NM_024649.4(BBS1):c.724-16C>T

NM_001844.4(COL2A1):c.2094+7A>G

NM_003482.3(KMT2D):c.8547C>T (p.Ala2849=)

NM_025114.3(CEP290):c.6646-16T>C

NM_052867.2(NALCN):c.2118+9T>C

NM_007374.2(SIX6):c.421C>A (p.His141Asn)

NM_001024858.2(SPTB):c.4641G>A (p.Ala1547=)

NM_003659.3(AGPS):c.-14A>G

NM_133378.4(TTN):c.39069T>C (p.Tyr13023=)

NM_201548.4(CERKL):c.848T>C (p.Leu283Pro)

NM_133378.4(TTN):c.22774C>T (p.Pro7592Ser)

NM_001228.4(CASP8):c.1359C>T (p.Gly453=)

NM_007315.3(STAT1):c.*535C>T

NM_001135659.2(NRXN1):c.*1723_*1724delAT

NM_002156.4(HSPD1):c.869+12T>C

NM_001135659.2(NRXN1):c.-453T>C

NM_001006657.1(WDR35):c.*795C>T

NM_032180.2(FAM161A):c.*1144T>G

NM_032977.3(CASP10):c.*1043C>T

NM_001692.3(ATP6V1B1):c.-17C>T

NM_001204.6(BMPR2):c.*5243T>C

NM_004082.4(DCTN1):c.*21C>T

NM_000821.6(GGCX):c.*2408T>C

NM_000233.3(LHCGR):c.430G>A (p.Val144Ile)

NM_015910.5(WDPCP):c.1094A>G (p.Glu365Gly)

NM_002056.3(GFPT1):c.*3345C>T

NM_000092.4(COL4A4):c.*4102dupT

NM_015311.2(OBSL1):c.2817G>A (p.Val939=)

NM_198843.2(SFTPB):c.-73C>G

NM_022912.2(REEP1):c.*2076delA

NM_000091.4(COL4A3):c.-134T>C

NM_198196.2(CD96):c.1504A>C (p.Thr502Pro)

NM_020754.3(ARHGAP31):c.*1238T>C

NM_031850.3(AGTR1):c.*463A>G

NM_005677.3(COLQ):c.*515C>T

NM_024996.5(GFM1):c.1406G>A (p.Gly469Asp)

NM_001182.4(ALDH7A1):c.*2781C>T

NM_002890.2(RASA1):c.-198G>T

NM_138694.3(PKHD1):c.*1083G>T

NM_001182.4(ALDH7A1):c.*641G>A

NM_018100.3(EFHC1):c.*226A>G

NM_032446.2(MEGF10):c.*164G>A

NM_001142800.1(EYS):c.7411+11C>T

NM_054027.4(ANKH):c.*1626G>A

NM_024577.3(SH3TC2):c.*14562G>A

NM_024577.3(SH3TC2):c.*10111_*10114delTCTA

NM_024577.3(SH3TC2):c.*1942delC

NM_005211.3(CSF1R):c.764A>T (p.Asn255Ile)

NM_000112.3(SLC26A2):c.-235T>C

NM_080680.2(COL11A2):c.3583-5T>C

NM_005211.3(CSF1R):c.*234delT

NM_000337.5(SGCD):c.*2604T>C

NM_021922.2(FANCE):c.4G>C (p.Ala2Pro)

NM_182548.3(LHFPL5):c.*512A>T

NM_001099287.1(NIPAL4):c.497T>C (p.Met166Thr)

NM_005943.5(MOCS1):c.*2646G>A

NM_000405.4(GM2A):c.*255C>T

NM_000409.4(GUCA1A):c.-26A>G

NM_012188.4(FOXI1):c.1088G>T (p.Ser363Ile)

NM_000287.3(PEX6):c.*168C>T

NM_006502.2(POLH):c.-216C>T

NM_000816.3(GABRG2):c.*1468A>G

NM_020745.3(AARS2):c.*753C>G

NM_002449.4(MSX2):c.*1125A>G

NM_000255.3(MUT):c.*691T>C

NM_000941.2(POR):c.-5G>T

NM_000443.3(ABCB4):c.3372C>T (p.Cys1124=)

NM_001723.5(DST):c.*49G>A

NM_183227.2(RAB23):c.616T>A (p.Ser206Thr)

NM_000163.4(GHR):c.*836G>C

NM_016156.5(MTMR2):c.*679A>C

NM_139319.2(SLC17A8):c.354+7A>T

NM_002465.3(MYBPC1):c.608+14A>G

NM_014425.4(INVS):c.1916C>A (p.Ala639Asp)

NM_005502.3(ABCA1):c.6450G>A (p.Pro2150=)

NM_005502.3(ABCA1):c.*2746T>C

NM_080911.2(UNG):c.623-9T>A

NM_001079802.1(FKTN):c.*5303dupA

NM_052845.3(MMAB):c.732G>A (p.Ser244=)

NM_005502.3(ABCA1):c.2473G>A (p.Val825Ile)

NM_000192.3(TBX5):c.*1101A>G

NM_015404.3(WHRN):c.*37C>G

NM_005502.3(ABCA1):c.-223C>A

NM_014365.2(HSPB8):c.*616C>T

NM_001414.3(EIF2B1):c.*352C>G

NM_018249.5(CDK5RAP2):c.1072G>A (p.Ala358Thr)

NM_000177.4(GSN):c.2155G>A (p.Glu719Lys)

NM_012330.3(KAT6B):c.3685A>G (p.Ser1229Gly)

NM_007055.3(POLR3A):c.*2205T>G

NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=)

NM_002316.3(LMX1B):c.*1393G>T

NM_001003722.1(GLE1):c.-81C>T

NM_001130438.2(SPTAN1):c.6738C>T (p.Leu2246=)

NM_007171.3(POMT1):c.1389A>C (p.Ser463=)

NM_015046.5(SETX):c.*626C>T

NM_000118.3(ENG):c.*700_*703delAACT

NM_033100.3(CDHR1):c.*907G>A

NM_003172.3(SURF1):c.366C>T (p.Val122=)

NM_005271.4(GLUD1):c.*970A>G

NM_000314.6(PTEN):c.*430A>G

NM_014694.3(ADAMTSL2):c.*622C>G

NM_000368.4(TSC1):c.*3063A>T

NM_000368.4(TSC1):c.*1372T>G

NM_016219.4(MAN1B1):c.2079G>A (p.Leu693=)

NM_002427.3(MMP13):c.968C>T (p.Thr323Met)

NM_002282.3(KRT83):c.891G>C (p.Glu297Asp)

NM_001173467.2(SP7):c.927G>A (p.Ser309=)

NM_006412.3(AGPAT2):c.316+15G>A

NM_001164277.1(SLC37A4):c.-670C>T

NM_005188.3(CBL):c.*5756G>A

NM_015645.4(C1QTNF5):c.-2141C>G

NM_001042413.1(GLIS3):c.-619C>G

NM_004170.5(SLC1A1):c.*425T>C

NM_006918.4(SC5D):c.*1626A>T

NM_001376.4(DYNC1H1):c.366T>C (p.Thr122=)

NM_022489.3(INF2):c.*288C>T

NM_001126106.2(SLC7A7):c.1064G>A (p.Arg355Gln)

NM_017929.5(PEX26):c.-133C>T

NM_000257.3(MYH7):c.449C>G (p.Ala150Gly)

NM_004782.3(SNAP29):c.*519_*520delAC

NM_000369.2(TSHR):c.*400T>C

NM_004782.3(SNAP29):c.*2944delA

NM_022081.5(HPS4):c.*515G>C

NM_198309.3(TTC8):c.*238G>A

NM_000268.3(NF2):c.*974C>T

NM_000268.3(NF2):c.*2396G>T

NM_004239.4(TRIP11):c.*628C>T

NM_004239.4(TRIP11):c.2667T>C (p.Asp889=)

NM_000362.4(TIMP3):c.*2820G>A

NM_002863.4(PYGL):c.2481C>T (p.Asn827=)

NM_177438.2(DICER1):c.3269+14G>A

NM_001429.3(EP300):c.2580A>G (p.Pro860=)

NM_133647.1(SLC12A6):c.3228-15T>C

NM_001953.4(TYMP):c.766-10C>T

NM_000061.2(BTK):c.852A>G (p.Lys284=)

NM_001167.3(XIAP):c.*80G>C

NM_144508.4(KNL1):c.3573A>G (p.Ile1191Met)

NM_004208.3(AIFM1):c.-185G>A

NM_004840.2(ARHGEF6):c.166-11T>C

NM_182894.2(VSX2):c.*45T>C

NM_001040108.1(MLH3):c.*1701delA

NM_000153.3(GALC):c.328+6A>G

NM_022369.3(STRA6):c.1903G>A (p.Gly635Ser)

NM_002435.2(MPI):c.*58C>T

NM_139057.3(ADAMTS17):c.867A>G (p.Gln289=)

NM_198525.2(KIF7):c.*87C>A

NM_144599.4(NIPA1):c.*3590A>G

NM_000275.2(OCA2):c.*50A>G

NM_000875.4(IGF1R):c.1463-5C>A

NM_000875.4(IGF1R):c.*1155_*1156insGT

NM_133647.1(SLC12A6):c.*3039_*3040insCT

NM_000875.4(IGF1R):c.*4980G>A

NM_199242.2(UNC13D):c.*18G>A

NM_004035.6(ACOX1):c.510G>A (p.Val170=)

NM_001077620.2(PRCD):c.*933G>A

NM_032520.4(GNPTG):c.*68G>T

NM_005236.2(ERCC4):c.61C>G (p.Gln21Glu)

NM_138477.2(CDAN1):c.57G>C (p.Val19=)

NM_006640.4(SEPT9):c.*573C>G

NM_005236.2(ERCC4):c.*1796T>C

NM_201631.3(TGM5):c.768G>A (p.Thr256=)

NM_138793.3(CANT1):c.*445G>A

NM_001287.5(CLCN7):c.1617+13G>A

NM_001135659.2(NRXN1):c.150C>G (p.Cys50Trp)

NM_001034850.2(RETREG1):c.606T>A (p.Ser202Arg)

NM_000127.2(EXT1):c.1164+1delG

NM_001081.3(CUBN):c.4376C>G (p.Ser1459Cys)

NM_007078.2(LDB3):c.575C>T (p.Pro192Leu)

NM_001080510.4(METTL23):c.536_545dupAAATGCTGGT (p.Ile183Asnfs)

NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met)

NM_002230.2(JUP):c.161C>T (p.Thr54Met)

NM_000496.2(CRYBB2):c.560T>G (p.Val187Gly)

NM_000052.6(ATP7A):c.3174A>G (p.Gln1058=)

NG_005905.2:g.61068_98138del

NM_006922.3(SCN3A):c.2624T>C (p.Ile875Thr)

NM_000297.3(PKD2):c.145C>T (p.Gln49Ter)

NM_031443.3(CCM2):c.354C>G (p.Tyr118Ter)

NM_025114.3(CEP290):c.3104-2A>G

NM_000053.3(ATP7B):c.2963G>A (p.Gly988Glu)

NM_000275.2(OCA2):c.1025A>G (p.Tyr342Cys)

NM_004006.2(DMD):c.177delG (p.Gln60Lysfs)

NM_001145853.1(WFS1):c.2191A>G (p.Met731Val)

NM_001005336.2(DNM1):c.465_467dupGAT (p.Gln155_Ile156insMet)

NM_015335.4(MED13L):c.4956-2A>C

NM_004960.3(FUS):c.667_675delGGCGGCGGC (p.Gly229_Gly231del)

NM_000144.4(FXN):c.123C>T (p.Gly41=)

NM_018249.5(CDK5RAP2):c.640C>G (p.Leu214Val)

NM_002047.3(GARS):c.90C>T (p.Leu30=)

NM_014874.3(MFN2):c.311+5G>C

NM_018896.4(CACNA1G):c.7066C>T (p.Pro2356Ser)

NM_015120.4(ALMS1):c.5629A>G (p.Ile1877Val)

NM_000179.2(MSH6):c.2322A>G (p.Leu774=)

NM_005911.5(MAT2A):c.318G>T (p.Val106=)

NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met)

NM_014049.4(ACAD9):c.808+18G>A

NM_198056.2(SCN5A):c.2788-15C>G

NM_024582.4(FAT4):c.3402A>T (p.Glu1134Asp)

NM_001182.4(ALDH7A1):c.393+15T>C

NM_006005.3(WFS1):c.1923G>A (p.Thr641=)

NM_014324.5(AMACR):c.-22C>G

NM_153240.4(NPHP3):c.520-10C>G

NM_002454.2(MTRR):c.288C>T (p.Leu96=)

NM_020117.10(LARS):c.1923G>A (p.Lys641=)

NM_006846.3(SPINK5):c.2622T>A (p.Tyr874Ter)

NM_001851.4(COL9A1):c.876+6T>C

NM_005654.5(NR2F1):c.365G>C (p.Cys122Ser)

NM_000925.3(PDHB):c.96+14G>C

NM_001148.4(ANK2):c.3379+17C>T

NM_005670.3(EPM2A):c.495G>A (p.Trp165Ter)

NM_024582.4(FAT4):c.8538C>T (p.Ser2846=)

NM_024582.4(FAT4):c.9822C>T (p.Pro3274=)

NM_004415.3(DSP):c.7077C>T (p.Ile2359=)

NM_000535.6(PMS2):c.803+11T>C

NM_004415.3(DSP):c.967G>C (p.Glu323Gln)

NM_004415.3(DSP):c.987G>A (p.Leu329=)

NM_000535.6(PMS2):c.-49C>T

NM_001080413.3(NOBOX):c.1774+18G>A

NM_016616.4(NME8):c.271-11T>A

NM_001130438.2(SPTAN1):c.3186A>T (p.Val1062=)

NM_024531.4(SLC52A2):c.1089G>A (p.Pro363=)

NM_000535.6(PMS2):c.705+13G>C

NM_015214.2(DDHD2):c.1009A>C (p.Arg337=)

NM_000501.3(ELN):c.164-2A>C

NM_000093.4(COL5A1):c.5136+17C>T

NM_000445.4(PLEC):c.6837C>T (p.Arg2279=)

NM_012210.3(TRIM32):c.811C>T (p.Arg271Trp)

NM_203447.3(DOCK8):c.4003G>T (p.Val1335Leu)

NM_004415.3(DSP):c.6240C>T (p.Phe2080=)

NM_020822.2(KCNT1):c.3681C>T (p.Pro1227=)

NM_000540.2(RYR1):c.13509A>G (p.Lys4503=)

NM_000540.2(RYR1):c.1565A>G (p.Tyr522Cys)

NM_000540.2(RYR1):c.5441T>A (p.Met1814Lys)

NM_000540.2(RYR1):c.7324-1G>T

NM_004996.3(ABCC1):c.1218+9C>T

NM_001110792.1(MECP2):c.1483G>T (p.Glu495Ter)

NM_003073.4(SMARCB1):c.500+234C>G

NM_007313.2(ABL1):c.2939C>T (p.Pro980Leu)

NM_152424.3(AMER1):c.2651C>T (p.Pro884Leu)

NM_015071.5(ARHGAP26):c.1829C>T (p.Thr610Ile)

NM_015338.5(ASXL1):c.2251G>A (p.Val751Ile)

NM_000051.3(ATM):c.1021G>A (p.Val341Ile)

NM_001123385.1(BCOR):c.3277G>A (p.Glu1093Lys)

NM_032043.2(BRIP1):c.1727dupA (p.Asn576Lysfs)

NM_032415.5(CARD11):c.2298G>T (p.Glu766Asp)

NM_004360.4(CDH1):c.2053G>A (p.Val685Met)

NM_015125.4(CIC):c.2146C>T (p.Arg716Trp)

NM_022148.3(CRLF2):c.190G>A (p.Gly64Ser)

NM_001429.3(EP300):c.6481A>G (p.Met2161Val)

NM_000400.3(ERCC2):c.1887G>C (p.Gln629His)

NM_005236.2(ERCC4):c.1447A>G (p.Arg483Gly)

NM_000127.2(EXT1):c.1135G>A (p.Val379Ile)

NM_000135.2(FANCA):c.2008C>T (p.Arg670Cys)

NM_000136.2(FANCC):c.1585A>C (p.Thr529Pro)

NM_016734.2(PAX5):c.6T>A (p.Asp2Glu)

NM_000534.4(PMS1):c.2417C>G (p.Thr806Ser)

NM_000264.3(PTCH1):c.212C>T (p.Thr71Ile)

NM_004260.3(RECQL4):c.3256G>A (p.Gly1086Arg)

NM_002354.2(EPCAM):c.764A>C (p.Lys255Thr)

NM_007294.3(BRCA1):c.1830G>A (p.Arg610=)

NM_024675.3(PALB2):c.1863T>C (p.Pro621=)

NM_130838.1(UBE3A):c.275dupA (p.Lys93Glufs)

NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=)

NM_000020.2(ACVRL1):c.-5-33C>T

NM_005751.4(AKAP9):c.9145C>T (p.Leu3049=)

NM_001148.4(ANK2):c.10888+20C>T

NM_007294.3(BRCA1):c.1256dupT (p.Asp420Argfs)

NM_000546.5(TP53):c.305C>T (p.Thr102Ile)

NM_007194.3(CHEK2):c.683+1G>T

NM_001128425.1(MUTYH):c.917G>A (p.Cys306Tyr)

NM_000551.3(VHL):c.167C>T (p.Ala56Val)

NM_138694.3(PKHD1):c.8303-1G>A

NM_000264.3(PTCH1):c.3992C>T (p.Ser1331Phe)

NM_000890.3(KCNJ5):c.121C>T (p.Arg41Cys)

NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His)

NM_000256.3(MYBPC3):c.506-1G>C

NM_000059.3(BRCA2):c.811G>A (p.Gly271Arg)

NM_000257.3(MYH7):c.3726+17C>T

NM_000152.4(GAA):c.676C>G (p.Leu226Val)

NM_000363.4(TNNI3):c.549+16G>A

NM_000478.5(ALPL):c.400_401delACinsCA (p.Thr134His)

NM_174878.2(CLRN1):c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs)

NM_000441.1(SLC26A4):c.890delC (p.Pro297Glnfs)

NM_000050.4(ASS1):c.1138C>T (p.Gln380Ter)

NM_001164277.1(SLC37A4):c.381+1G>A

NM_000352.4(ABCC8):c.2116+2T>C

NM_000518.4(HBB):c.315+1G>C

NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs)

NM_000153.3(GALC):c.1472delA (p.Lys491Argfs)

NM_000071.2(CBS):c.770C>T (p.Thr257Met)

NM_018418.4(SPATA7):c.94+2T>C

NM_000527.4(LDLR):c.811G>A (p.Val271Ile)

NM_003156.3(STIM1):c.239A>C (p.Asn80Thr)

NM_000314.6(PTEN):c.219_222dupAAGA (p.His75Lysfs)

NM_001103.3(ACTN2):c.1883A>G (p.Glu628Gly)

NM_005249.4(FOXG1):c.689G>A (p.Arg230His)

NM_004992.3(MECP2):c.1180_1181insT (p.Glu394Valfs)

NM_003159.2(CDKL5):c.2046+1G>A

NM_001165963.1(SCN1A):c.4016C>T (p.Ala1339Val)

NM_001165963.1(SCN1A):c.380A>T (p.His127Leu)

NM_014444.4(TUBGCP4):c.1746G>T (p.Leu582=)

NM_001110556.1(FLNA):c.2565+1G>C

NM_001572.3(IRF7):c.1261C>T (p.Gln421Ter)

NM_001277115.1(DNAH11):c.6244C>T (p.Arg2082Ter)

NM_024915.3(GRHL2):c.641G>A (p.Ser214Asn)

NM_001134363.2(RBM20):c.1329C>G (p.Phe443Leu)

NM_017433.4(MYO3A):c.3037C>T (p.Arg1013Cys)

NM_033056.3(PCDH15):c.5435C>T (p.Pro1812Leu)

NM_033056.3(PCDH15):c.1537T>C (p.Ser513Pro)

NM_032578.3(MYPN):c.2134G>C (p.Ala712Pro)

NM_022124.5(CDH23):c.1514+6A>G

NM_005411.4(SFTPA1):c.148C>G (p.Leu50Val)

NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830_Leu1164delinsTer)

NM_001277269.1(OTOG):c.4663G>A (p.Ala1555Thr)

NM_001277269.1(OTOG):c.7681C>T (p.Leu2561=)

NM_000432.3(MYL2):c.275-14G>C

NM_002834.4(PTPN11):c.1224+15G>A

NM_173591.3(OTOGL):c.5896T>C (p.Leu1966=)

NM_002471.3(MYH6):c.1002T>A (p.Asp334Glu)

NM_000138.4(FBN1):c.1571C>T (p.Thr524Met)

NM_144672.3(OTOA):c.746_751delCTGCTTinsA (p.Ser249Tyrfs)

NM_001199107.1(TBC1D24):c.330C>T (p.Gly110=)

NM_023036.4(DNAI2):c.234G>A (p.Glu78=)

NM_001943.4(DSG2):c.2470C>T (p.Arg824Cys)

NM_144612.6(LOXHD1):c.91G>C (p.Asp31His)

NM_001039876.2(SYNE4):c.317A>C (p.Gln106Pro)

NM_001039213.3(CEACAM16):c.95G>T (p.Ser32Ile)

NM_001039141.2(TRIOBP):c.4773C>T (p.Ala1591=)

NM_004006.2(DMD):c.298G>A (p.Val100Ile)

NM_001614.3(ACTG1):c.409C>G (p.Gln137Glu)

NM_002290.4(LAMA4):c.4771G>T (p.Ala1591Ser)

NM_004895.4(NLRP3):c.392A>G (p.Lys131Arg)

NM_000179.2(MSH6):c.1969delC (p.Gln657Argfs)

NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys)

NM_000535.6(PMS2):c.2011A>G (p.Thr671Ala)

NM_000314.6(PTEN):c.-997dupC

NM_000314.6(PTEN):c.-821G>T

NM_000314.6(PTEN):c.-797A>G

NM_021625.4(TRPV4):c.704A>G (p.Tyr235Cys)

NM_004360.4(CDH1):c.2590G>A (p.Glu864Lys)

NM_032043.2(BRIP1):c.1687_1689delGAT (p.Asp563del)

NM_032043.2(BRIP1):c.-47G>C

NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro)

NM_000166.5(GJB1):c.372G>C (p.Lys124Asn)

NM_001128425.1(MUTYH):c.1421G>C (p.Arg474Pro)

NM_000251.2(MSH2):c.904T>C (p.Leu302=)

NM_000179.2(MSH6):c.3293G>A (p.Cys1098Tyr)

NM_000038.5(APC):c.4110A>T (p.Lys1370Asn)

NM_000059.3(BRCA2):c.8632+1910dup

NM_000059.3(BRCA2):c.8633-476T>A

NM_007294.3(BRCA1):c.442-696_442-695dup

NM_007294.3(BRCA1):c.134+2983_134+2987del

NM_000143.3(FH):c.1500G>A (p.Trp500Ter)

NM_001165963.1(SCN1A):c.3425_3426delAA (p.Lys1142Argfs)

NM_173076.2(ABCA12):c.179G>C (p.Arg60Pro)

NM_000314.6(PTEN):c.-730C>T

NM_000797.3(DRD4):c.1074_1075delCTinsGG (p.Cys358_Trp359delinsTrpGly)

NM_002225.3(IVD):c.1183C>T (p.Arg395Cys)

NM_000303.2(PMM2):c.368G>A (p.Arg123Gln)

NM_007294.3(BRCA1):c.5153-6C>T

NM_000214.2(JAG1):c.695-12T>A

NM_000383.3(AIRE):c.1265delC (p.Pro422Leufs)

NM_001849.3(COL6A2):c.1970-9G>A

NM_000059.3(BRCA2):c.956delA (p.Asn319Ilefs)

NM_000059.3(BRCA2):c.1232_1242delTACCCCTATTGinsACAT (p.Ile411Asnfs)

NM_000059.3(BRCA2):c.1900_1901insTT (p.Ala634Valfs)

NM_000059.3(BRCA2):c.5263G>T (p.Glu1755Ter)

NM_000059.3(BRCA2):c.6049A>T (p.Lys2017Ter)

NM_000059.3(BRCA2):c.6625dupA (p.Ile2209Asnfs)

NM_000059.3(BRCA2):c.7517dupA (p.Pro2507Alafs)

NM_000059.3(BRCA2):c.8301delT (p.Glu2769Lysfs)

NM_000059.3(BRCA2):c.8931T>A (p.Tyr2977Ter)

NM_007294.3(BRCA1):c.5041_5042insTTAA (p.Thr1681Ilefs)

NM_007294.3(BRCA1):c.4290_4296delTTCCATC (p.Ser1431Terfs)

NM_007294.3(BRCA1):c.689_692delAGAC (p.Glu230Glyfs)

NM_015247.2(CYLD):c.1658_1661delATCA (p.Asn553Argfs)

NM_004937.2(CTNS):c.382C>T (p.Gln128Ter)

c.4852C>T

NM_017780.3(CHD7):c.7802dupA (p.Tyr2601Terfs)

NM_000059.3(BRCA2):c.7008-?_9117+?dup

NM_000059.3(BRCA2):c.9499_9501+2del

NM_007294.3(BRCA1):c.5075-?_5277+?del

NM_007294.3(BRCA1):c.81-?_5152+?dup

NM_007294.3(BRCA1):c.4097-78_4185+69del

46;X;t(X;10)(p11.2;q24.3)

46;XX;inv(2)(p23q31)dn

46;XX;t(2;11)(q33;q23)dn

46;XY;inv(12)(p12.1q21.2)dn

46;XX;t(16;22)(q23.2;q13.3)

NM_144772.2(NAXE):c.743delC (p.Ala248Glufs)

NC_000005.9:g.(?_16875518)_(17014287_?)dup

NM_000059.3(BRCA2):c.474A>G (p.Ser158=)

NM_001130987.1(DYSF):c.3792A>G (p.Gln1264=)

NM_001918.3(DBT):c.*4395G>A

NM_015074.3(KIF1B):c.-79-4A>G

NM_001854.3(COL11A1):c.3788C>T (p.Pro1263Leu)

NM_015074.3(KIF1B):c.2692G>A (p.Gly898Ser)

NM_000302.3(PLOD1):c.1495C>T (p.Arg499Trp)

NM_001111.4(ADAR):c.*206T>G

NM_005266.6(GJA5):c.-27T>C

NM_005957.4(MTHFR):c.*4549G>C

NM_000298.5(PKLR):c.*13T>G

NM_022367.3(SEMA4A):c.2106C>T (p.Leu702=)

NM_005957.4(MTHFR):c.*1765C>T

NM_006118.3(HAX1):c.207A>T (p.Pro69=)

NM_000198.3(HSD3B2):c.-145G>A

NM_000702.3(ATP1A2):c.*748C>T

NM_000302.3(PLOD1):c.*117A>G

NM_003126.2(SPTA1):c.3072C>T (p.Gly1024=)

NM_003001.3(SDHC):c.*1695G>T

NM_014874.3(MFN2):c.*1392A>G

NM_003126.2(SPTA1):c.441C>T (p.Thr147=)

NM_004698.2(PRPF3):c.1851G>A (p.Glu617=)

NM_005149.2(TBX19):c.105C>T (p.Asp35=)

NM_019032.5(ADAMTSL4):c.2512A>G (p.Met838Val)

NM_152263.3(TPM3):c.*3248G>A

NM_000449.3(RFX5):c.*364A>C

NM_007272.2(CTRC):c.26C>T (p.Ala9Val)

NM_003126.2(SPTA1):c.6359C>G (p.Thr2120Ser)

NM_002241.4(KCNJ10):c.*1435C>T

NM_002857.3(PEX19):c.*1745T>C

NM_000309.3(PPOX):c.646A>G (p.Ile216Val)

NM_000530.7(MPZ):c.*761A>G

NM_004431.4(EPHA2):c.*166G>A

NM_005149.2(TBX19):c.*1266C>T

NM_001001430.2(TNNT2):c.*66G>A

NM_003465.2(CHIT1):c.26-4C>A

NM_003907.2(EIF2B5):c.1341G>A (p.Ser447=)

NM_001184.3(ATR):c.6896T>C (p.Met2299Thr)

NM_002354.2(EPCAM):c.*147dupA

NM_000935.2(PLOD2):c.*847C>T

NM_000461.4(THRB):c.*5431T>A

NM_000461.4(THRB):c.*107G>C

NM_001039348.2(EFEMP1):c.*248A>C

NM_002618.3(PEX13):c.338T>C (p.Leu113Pro)

NM_020800.2(IFT80):c.-40C>T

NM_198407.2(GHSR):c.*842T>A

NM_003722.4(TP63):c.*2555dupT

NM_015560.2(OPA1):c.871-9T>C

NM_002056.3(GFPT1):c.*196G>A

NM_002222.5(ITPR1):c.3255+4G>A

NM_003494.3(DYSF):c.3724C>T (p.Arg1242Cys)

NM_003849.3(SUCLG1):c.-71G>T

NM_000404.3(GLB1):c.1603C>G (p.His535Asp)

NM_015120.4(ALMS1):c.5783G>A (p.Gly1928Asp)

NM_015175.2(NBEAL2):c.5381C>T (p.Thr1794Met)

NM_033629.4(TREX1):c.198G>A (p.Lys66=)

NM_013247.4(HTRA2):c.-586G>C

NM_000821.6(GGCX):c.1218C>T (p.Arg406=)

NM_003392.4(WNT5A):c.*2945A>G

NM_017849.3(TMEM127):c.*2245A>G

NM_001457.3(FLNB):c.2529C>T (p.His843=)

NM_001457.3(FLNB):c.*507C>T

NM_002942.4(ROBO2):c.*985C>A

NM_000203.4(IDUA):c.793-9C>T

NM_020754.3(ARHGAP31):c.1538C>T (p.Pro513Leu)

NM_000796.5(DRD3):c.987A>G (p.Gln329=)

NM_144499.2(GNAT1):c.*2074T>C

NM_004656.3(BAP1):c.581-6C>T

NM_024334.2(TMEM43):c.*1374T>C

NM_198859.3(PRICKLE2):c.1317C>T (p.Pro439=)

NM_000248.3(MITF):c.*1502A>T

NM_032682.5(FOXP1):c.*665G>A

NM_032383.4(HPS3):c.*239G>A

NM_000313.3(PROS1):c.*301A>G

NM_002310.5(LIFR):c.*368A>C

NM_000436.3(OXCT1):c.*567C>T

NM_001104631.1(PDE4D):c.*2032_*2035dupTAGA

NM_017755.5(NSUN2):c.2043G>A (p.Arg681=)

NM_000046.3(ARSB):c.*202A>G

NM_022132.4(MCCC2):c.615T>G (p.Asn205Lys)

NM_177924.4(ASAH1):c.-38C>T

NM_004385.4(VCAN):c.7966A>G (p.Thr2656Ala)

NM_003719.3(PDE8B):c.*864_*865delAG

NM_003664.4(AP3B1):c.388C>T (p.Leu130=)

NM_002397.4(MEF2C):c.*3583A>C

NM_006158.4(NEFL):c.*378A>G

NM_000742.3(CHRNA2):c.*384G>A

NM_000439.4(PCSK1):c.612C>T (p.Asn204=)

NM_001491.2(GCNT2):c.254C>G (p.Pro85Arg)

NM_000349.2(STAR):c.*348C>T

NM_023110.2(FGFR1):c.*70C>T

NM_003816.2(ADAM9):c.2210+14T>C

NM_001242957.2(MAK):c.843C>T (p.His281=)

NM_007214.4(SEC63):c.*2086G>C

NM_017813.4(IMPAD1):c.*4890C>T

NM_007214.4(SEC63):c.1674T>C (p.Asn558=)

NM_014028.3(OSTM1):c.*2053C>T

NM_017780.3(CHD7):c.13G>C (p.Gly5Arg)

NM_172105.3(EYA4):c.*1142delT

NM_000031.5(ALAD):c.*871C>A

NM_005228.4(EGFR):c.*1680T>G

NM_000535.6(PMS2):c.*107A>G

NM_012210.3(TRIM32):c.*512A>T

NM_002316.3(LMX1B):c.459C>T (p.Gly153=)

NM_002316.3(LMX1B):c.*3765A>C

NM_001001547.2(CD36):c.-375G>C

NM_005751.4(AKAP9):c.8524A>G (p.Met2842Val)

NM_182548.3(LHFPL5):c.372C>T (p.Ala124=)

NM_014694.3(ADAMTSL2):c.683-12T>G

NM_002098.5(GUCA1B):c.-73G>A

NM_006502.2(POLH):c.*1364T>A

NM_006502.2(POLH):c.*4310G>A

NM_001024630.3(RUNX2):c.*3160G>T

NM_144966.5(FREM1):c.*1256T>A

NM_012120.2(CD2AP):c.*492_*495delGTGT

NM_006918.4(SC5D):c.*5534C>G

NM_152722.4(HEPACAM):c.*112G>C

NM_016952.4(CDON):c.*2379T>C

NM_033305.2(VPS13A):c.*1186A>G

NM_203447.3(DOCK8):c.3195G>A (p.Arg1065=)

NM_000220.4(KCNJ1):c.894T>C (p.Asp298=)

NM_001909.4(CTSD):c.*694G>A

NM_004972.3(JAK2):c.-109+10A>C

NM_000170.2(GLDC):c.*188C>T

NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys)

NM_004560.3(ROR2):c.2277G>A (p.Ala759=)

NM_005708.4(GPC6):c.*696_*697delCT

NM_000264.3(PTCH1):c.*1358G>A

NM_001376.4(DYNC1H1):c.13719C>T (p.Asn4573=)

NM_001145.4(ANG):c.-332C>A

NM_002471.3(MYH6):c.2685+14A>T

NM_025152.2(NUBPL):c.*1694G>A

NM_207122.1(EXT2):c.-26G>T

NM_006194.3(PAX9):c.516G>A (p.Lys172=)

NM_020937.3(FANCM):c.4366C>T (p.Arg1456Cys)

NM_000428.2(LTBP2):c.1745C>T (p.Ala582Val)

NM_000920.3(PC):c.*164dupT

NM_004863.3(SPTLC2):c.*397G>T

NM_018319.3(TDP1):c.*1452C>T

NM_024079.4(ALG8):c.441A>T (p.Val147=)

NM_024698.5(SLC25A22):c.-138_-137insC

NM_012193.3(FZD4):c.*5451G>A

NM_152594.2(SPRED1):c.*1897C>T

NM_005591.3(MRE11):c.*656_*659dupTCTC

NM_002225.3(IVD):c.*261G>A

NM_000423.2(KRT2):c.768C>T (p.Asn256=)

NM_002272.3(KRT4):c.*68C>T

NM_002272.3(KRT4):c.25C>G (p.Arg9Gly)

NM_005379.3(MYO1A):c.1367A>G (p.Glu456Gly)

NM_014714.3(IFT140):c.3779G>A (p.Arg1260Gln)

NM_000064.3(C3):c.4941G>A (p.Gln1647=)

NM_006702.4(PNPLA6):c.1095T>C (p.Pro365=)

NM_004960.3(FUS):c.937-10C>T

NM_018979.3(WNK1):c.*628dupA

NM_000053.3(ATP7B):c.*786T>C

NM_000115.4(EDNRB):c.*179G>A

NM_015247.2(CYLD):c.*2438G>A

NM_015272.4(RPGRIP1L):c.*418G>A

NM_001080432.2(FTO):c.1240-4G>A

NM_001043.3(SLC6A2):c.*1023C>A

NM_025152.2(NUBPL):c.-7C>T

NM_020529.2(NFKBIA):c.78G>A (p.Leu26=)

NM_002591.3(PCK1):c.*388_*393dupTGTGTG

NM_000353.2(TAT):c.*1055A>G

NM_002408.3(MGAT2):c.*791G>A

NM_021615.4(CHST6):c.*687C>A

NM_017671.4(FERMT1):c.1884C>T (p.Asn628=)

NM_000161.2(GCH1):c.*1183C>T

NM_022041.3(GAN):c.*1273G>C

NM_001451.2(FOXF1):c.204C>G (p.Arg68=)

NM_025219.2(DNAJC5):c.*2545C>G

NM_001127464.2(ZNF469):c.2666C>T (p.Ala889Val)

NM_000933.3(PLCB4):c.*869G>T

NM_014252.3(SLC25A15):c.*2373T>C

NM_000219.5(KCNE1):c.*946delG

NM_001754.4(RUNX1):c.*700dupT

NM_003850.2(SUCLA2):c.802+4A>G

NM_000321.2(RB1):c.*1544T>C

NM_000211.4(ITGB2):c.1230C>G (p.Thr410=)

NM_001004127.2(ALG11):c.*193A>C

NM_052910.2(SLITRK1):c.-536A>T

NM_002294.2(LAMP2):c.*3677C>A

NM_000133.3(F9):c.19A>T (p.Ile7Phe)

NM_000033.3(ABCD1):c.1215G>A (p.Ser405=)

NM_001083962.1(TCF4):c.*5189_*5192delTGAC

NM_000540.2(RYR1):c.13551C>T (p.Pro4517=)

NM_000140.3(FECH):c.598+12T>A

NM_005603.4(ATP8B1):c.2098-20_2098-15dupTTTTTT

NM_003839.3(TNFRSF11A):c.497C>T (p.Thr166Met)

NM_000208.3(INSR):c.*613C>T

NM_030957.3(ADAMTS10):c.*428A>G

NM_001031726.3(C19orf12):c.*2662C>T

NM_198994.2(TGM6):c.940G>A (p.Val314Met)

NM_004738.4(VAPB):c.*1800A>G

NM_004738.4(VAPB):c.*5298C>T

NM_024729.3(MYH14):c.*667G>A

NM_024075.4(TSEN34):c.-175C>A

NM_025219.2(DNAJC5):c.122A>G (p.Lys41Arg)

NM_206828.3(NLRP7):c.1464_1466dupGGA (p.Glu488_Asp489insGlu)

NM_001256714.1(DNAAF3):c.321T>C (p.Asp107=)

NM_015192.3(PLCB1):c.1764-6G>C

NM_000064.3(C3):c.1767C>T (p.His589=)

NM_000208.3(INSR):c.*3359G>A

NM_000484.3(APP):c.-170C>A

NM_000208.3(INSR):c.1862-4A>G

NM_001754.4(RUNX1):c.*3527T>G

NM_144492.2(CLDN14):c.-682C>T

NM_000394.3(CRYAA):c.*103C>T

NM_144773.3(PROKR2):c.930C>G (p.His310Gln)

NM_001001433.2(STX16):c.904A>G (p.Met302Val)

NM_000343.3(SLC5A1):c.*2257A>G

NM_000362.4(TIMP3):c.439-12A>T

NM_012469.3(PRPF6):c.-79C>T

NM_000933.3(PLCB4):c.535G>A (p.Glu179Lys)

NM_000628.4(IL10RB):c.*616delA

NM_025225.2(PNPLA3):c.1359C>G (p.Ser453Arg)

NM_020639.2(RIPK4):c.*90T>C

NM_001080512.2(BICC1):c.2411G>A (p.Arg804His)

NM_007327.3(GRIN1):c.-29G>A

NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=)

NM_032634.3(PIGO):c.2022G>T (p.Val674=)

NM_014141.5(CNTNAP2):c.3132G>A (p.Pro1044=)

NM_003476.4(CSRP3):c.-3A>C

NM_032578.3(MYPN):c.890C>T (p.Pro297Leu)

NM_005055.4(RAPSN):c.271C>T (p.Arg91Cys)

NM_000445.4(PLEC):c.879G>A (p.Pro293=)

NM_001916.4(CYC1):c.960A>C (p.Ala320=)

NM_000051.3(ATM):c.3303G>A (p.Lys1101=)

NM_004329.2(BMPR1A):c.-267-9T>C

NM_000051.3(ATM):c.6096-2A>G

NM_001909.4(CTSD):c.972+7G>A

NM_000256.3(MYBPC3):c.2838A>G (p.Ala946=)

NM_000719.6(CACNA1C):c.4829-8C>T

NM_014908.3(DOLK):c.159C>G (p.Ala53=)

NM_003482.3(KMT2D):c.4271G>C (p.Cys1424Ser)

NM_000368.4(TSC1):c.2964A>G (p.Ala988=)

NM_014191.3(SCN8A):c.1342-18C>T

NM_015531.5(C2CD3):c.3082G>T (p.Asp1028Tyr)

NM_024698.5(SLC25A22):c.412+8C>G

NM_020822.2(KCNT1):c.150C>A (p.Ala50=)

NM_020822.2(KCNT1):c.637G>A (p.Val213Ile)

NM_024537.3(CARS2):c.466-18G>A

NM_006231.3(POLE):c.3084G>A (p.Glu1028=)

NM_032634.3(PIGO):c.512-7C>T

NM_001017535.1(VDR):c.1027C>T (p.Arg343Cys)

NM_000264.3(PTCH1):c.-8303G>T

NM_033087.3(ALG2):c.-36C>A

NM_014191.3(SCN8A):c.1135-13T>C

NM_000138.4(FBN1):c.7906G>A (p.Gly2636Ser)

NM_001376.4(DYNC1H1):c.4092T>C (p.Asp1364=)

NM_000059.3(BRCA2):c.682-9T>C

NM_001376.4(DYNC1H1):c.9049-19G>T

NM_000294.2(PHKG2):c.-21C>G

NM_000138.4(FBN1):c.5595C>A (p.Cys1865Ter)

NM_000138.4(FBN1):c.5283C>T (p.Thr1761=)

NM_000303.2(PMM2):c.348-8A>G

NM_000137.2(FAH):c.975G>C (p.Thr325=)

NM_020778.4(ALPK3):c.1241C>G (p.Thr414Ser)

NM_001303.3(COX10):c.-35A>G

NM_001256850.1(TTN):c.82444A>C (p.Ser27482Arg)

NM_001256850.1(TTN):c.91185G>A (p.Val30395=)

NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)

NM_133378.4(TTN):c.96077G>A (p.Arg32026His)

NM_133378.4(TTN):c.99084A>T (p.Thr33028=)

NM_001256850.1(TTN):c.10360+4593T>G

NM_001256850.1(TTN):c.10891C>T (p.Arg3631Cys)

NM_138691.2(TMC1):c.1713C>T (p.Phe571=)

NM_144573.3(NEXN):c.864+12T>A

C2ORF71, TRP253TER

NM_178012.4(TUBB2B):c.793T>C (p.Phe265Leu)

NM_198488.3(FAM83H):c.2080G>T (p.Glu694Ter)

NM_015141.3(GPD1L):c.247G>A (p.Glu83Lys)

NM_000046.3(ARSB):c.349T>C (p.Cys117Arg)

NM_000046.3(ARSB):c.1143-1G>C

NM_000067.2(CA2):c.120T>G (p.Tyr40Ter)

NM_020631.4(PLEKHG5):c.1940T>C (p.Phe647Ser)

NM_020223.3(FAM20C):c.1364-2A>G

NM_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs)

NM_000190.3(HMBS):c.667G>A (p.Glu223Lys)

NM_000298.5(PKLR):c.110G>A (p.Gly37Glu)

LPL, 1-BP DEL, CODON 172

NM_030916.2(NECTIN4):c.906delT (p.Pro304Hisfs)

CHMP2B, IVS5AS, G-C

NM_015040.3(PIKFYVE):c.3308A>G (p.Lys1103Arg)