NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)
NM_000179.2(MSH6):c.3762_3763delAGinsTT (p.Glu1254_Asp1255delinsAspTyr)
NM_001396.3(DYRK1A):c.577_579delAAGinsTTCTT (p.Lys193Phefs)
NM_000540.2(RYR1):c.35_37delTCCinsCG (p.Phe12Serfs)
NM_003482.3(KMT2D):c.3180_3181delGGinsTT (p.Lys1060_Val1061delinsAsnLeu)
NM_000059.3(BRCA2):c.37_44delGAAATTTT (p.Glu13Terfs)
NM_007294.3(BRCA1):c.1504_1518delTTAAAGCGTAAAAGG (p.Leu502_Arg506del)
NM_020732.3(ARID1B):c.919_933delGGCGGCGGCGGCGGC (p.Gly315_Gly319del)
NM_001037161.1(ACOT1):c.410_423delAGCCGGTGCGCGCG (p.Glu137Glyfs)
NM_000527.4(LDLR):c.244_250dupTGCATTC (p.Pro84Leufs)
NM_018668.4(VPS33B):c.133_136delCTCAinsATCT (p.Leu45_Met46delinsIleLeu)
NM_001127221.1(CACNA1A):c.6660delTinsCCACCAC (p.His2220_Pro2221insHisHis)
NM_000059.3(BRCA2):c.8034_8046delGGATGACACAGCTinsA (p.Asp2679_Ala2682del)
NM_000077.4(CDKN2A):c.9_32dup24 (p.Pro11_Ser12insAlaAlaGlySerSerMetGluPro)
NM_152419.2(HGSNAT):c.525dupT (p.Val176Cysfs)
NM_182680.1(AMELX):c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr)
NM_004085.3(TIMM8A):c.148_157delAAGCCTGGGC (p.Lys50Glnfs)
NM_174878.2(CLRN1):c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs)
NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830_Leu1164delinsTer)
NM_144672.3(OTOA):c.746_751delCTGCTTinsA (p.Ser249Tyrfs)
NM_000797.3(DRD4):c.1074_1075delCTinsGG (p.Cys358_Trp359delinsTrpGly)
NM_000059.3(BRCA2):c.1232_1242delTACCCCTATTGinsACAT (p.Ile411Asnfs)
NM_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs)
NM_000535.6(PMS2):c.1593_1610dup18 (p.Glu537_Lys538insHisValAspSerGlnGlu)
NM_178857.5(RP1L1):c.4019_4027delAAACTAAAGinsGGACTA (p.Glu1340_Glu1343delinsGlyThrLys)
NM_000314.6(PTEN):c.984_998dupAAATAAAGACAAAGC (p.Asn334_Arg335insLysAspLysAlaAsn)
NM_001453.2(FOXC1):c.100_109delGGGGGCGGCT (p.Gly34Thrfs)
NM_001242897.1(DEPDC5):c.1949_1951delCTGinsTCT (p.Ser650_Ala651delinsPheSer)
NM_001110792.1(MECP2):c.42_47dupAGGAGG (p.Gly16_Glu17insGlyGly)
NM_000465.3(BARD1):c.26_40dupACCGGCAGCCGAGGA (p.Arg13_Ile14insAsnArgGlnProArg)
NM_000284.3(PDHA1):c.900-3_917dup21 (p.Glu305_Glu306insAspSerTyrArgThrArgGlu)
NM_133378.4(TTN):c.100076_100086delAAGTAACATGGinsTGAAAGAAAAA (p.Glu33359_Trp33362delinsValLysGluLys)
NM_000492.3(CFTR):c.325_327delTATinsG (p.Tyr109Glyfs)
NM_007294.3(BRCA1):c.1938_1947delCAGTGAAGAG (p.Ser646Argfs)
NM_001161354.1(PLEKHA4):c.20_28delGCAGCAGCC (p.Arg7_Ser9del)
NM_032043.2(BRIP1):c.438_440delATAinsCT (p.Tyr147Serfs)
NM_004992.3(MECP2):c.855_859delGAAAGinsAAAAAAAAGACT (p.Ala287Lysfs)
NM_000324.2(RHAG):c.154_157delCCTCinsGA (p.Pro52Aspfs)
NM_134444.4(NLRP4):c.457_466delATTCAAGGAC (p.Ile153Hisfs)
NM_024675.3(PALB2):c.964_975dupGAGGCAAATATT (p.Ile325_Ser326insGluAlaAsnIle)
NM_024675.3(PALB2):c.500_513delATTCACTCAGATTG (p.Asp167Valfs)
NM_004316.3(ASCL1):c.175_186delCAGCAGCAGCAG (p.Gln59_Gln62del)
NM_000545.6(HNF1A):c.1720_1729delGGCATCCAGCinsGGCATCCAGG (p.His577Asp)
NM_212472.2(PRKAR1A):c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer)
NM_014332.2(SMPX):c.99delC (p.Arg34Glufs)
NM_000492.3(CFTR):c.80delG (p.Gly27Aspfs)
NM_000222.2(KIT):c.2358_2359delGAinsTT (p.Lys786_Asn787delinsAsnTyr)
NM_000038.5(APC):c.4793_4800delCTTCAAAAinsTGG (p.Ala1598Valfs)
NM_005343.3(HRAS):c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp)
NM_145038.4(DRC1):c.1720_1734delAAGGCGAGCATGGAG (p.Lys574_Glu578del)
NM_015339.4(ADNP):c.1106_1108delTACinsCTGT (p.Leu369Serfs)
NM_000059.3(BRCA2):c.3409_3421delTTGCAGAAGAGTA (p.Leu1137Hisfs)
NM_007294.3(BRCA1):c.98_105delAACCTGTC (p.Glu33Valfs)
NM_000219.5(KCNE1):c.172_177delACCCTGinsCCCCCT (p.Thr58_Leu59delinsProPro)
NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln)
NM_006177.3(NRL):c.586_627dup42 (p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
NM_001733.4(C1R):c.1200_1215del16insTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)
NM_000135.2(FANCA):c.97delG (p.Glu33Lysfs)
NM_017890.4(VPS13B):c.11906_11916delCCAGCTGTTCTinsG (p.Pro3969Argfs)
NM_000179.2(MSH6):c.2645_2653delTTAAGTCTA (p.Phe882_Thr1219delinsTer)
NM_003122.4(SPINK1):c.27delC (p.Ser10Valfs)
NM_007294.3(BRCA1):c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)
NM_017849.3(TMEM127):c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs)
NM_005228.4(EGFR):c.2236_2250delGAATTAAGAGAAGCA (p.Glu746_Ala750del)
NM_005228.4(EGFR):c.2237_2251delAATTAAGAGAAGCAAinsTTC (p.Glu746_Thr751delinsValPro)
NM_002247.3(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
NM_000520.5(HEXA):c.898_905delTTCATGAG (p.Phe300Hisfs)
NM_000894.2(LHB):c.88_96delCACCCCATC (p.His30_Ile32del)
NM_001110792.1(MECP2):c.15_23dupCGCCGCCGC (p.Ala8_Pro9insAlaAlaAla)
NM_002769.4(PRSS1):c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle)
NM_007294.3(BRCA1):c.3621_3626delGAAATTinsAA (p.Leu1209Serfs)
NM_004999.3(MYO6):c.3207_3212delTGCTGGinsATCCTACATACTTAAAATTTCTT (p.Ala1070Serfs)
NM_005228.4(EGFR):c.2238_2248delATTAAGAGAAGinsGC (p.Leu747_Ala750delinsPro)
NM_000059.3(BRCA2):c.92_106delGGTTTGAAGAACTTT (p.Trp31_Leu35del)
NM_015120.4(ALMS1):c.63_77delGGAGGAGGAGGAGGA (p.Glu25_Glu29del)
NM_004523.3(KIF11):c.862_871delATAAATCAAT (p.Ile288Profs)
NM_001193466.1(KANSL1):c.985_995delTTGAGCAAACT (p.Leu329Alafs)
NM_000179.2(MSH6):c.2212_2222delGTGACATTAAA (p.Val738Glnfs)
NM_024782.2(NHEJ1):c.11dupT (p.Glu5Glyfs)
NM_000090.3(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del)
NM_000059.3(BRCA2):c.7596_7609delCTCTGCGTGTTCTC (p.Ser2533Terfs)
NM_000059.3(BRCA2):c.1404_1413delAGATGAAGAG (p.Arg468Serfs)
NM_007294.3(BRCA1):c.3087_3100dupTAACATTAGAGAAA (p.Asn1034Ilefs)
NM_007294.3(BRCA1):c.2194delGinsAA (p.Glu732Lysfs)
NM_000277.1(PAH):c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del)
NM_003477.2(PDHX):c.87_90delGAAG (p.Lys30Glyfs)
NM_203475.2(PORCN):c.1059_1071dupCCTGGCTTTTATC (p.Thr358Profs)
NM_019032.5(ADAMTSL4):c.239delC (p.Pro80Argfs)
NM_000492.3(CFTR):c.775delCinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu259Serfs)
NM_001024596.2(ZNF772):c.10_11insGGC (p.Ala4delinsGlyPro)
NM_000546.5(TP53):c.454_466delCCGCCCGGCACCC (p.Pro152Alafs)
NM_000285.3(PEPD):c.611_623dupAGGCCCACCGTGA (p.Val209Glyfs)
NM_007294.3(BRCA1):c.470_477delCTAACCTT (p.Ser157Trpfs)
NM_024675.3(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656Glnfs)
NM_003803.3(MYOM1):c.64_66delGTGinsCTC (p.Val22Leu)
NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs)
NM_000179.2(MSH6):c.2056_2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs)
NM_000182.4(HADHA):c.274_278delTCATC (p.Ser92Lysfs)
NM_007294.3(BRCA1):c.1384_1393dupGGGAAAACCT (p.Tyr465Trpfs)
NM_144612.6(LOXHD1):c.2874_2891dup18 (p.Ser965_Glu966insSerGluGluSerSerSer)
NM_000059.3(BRCA2):c.5160_5168delAAACAGTACinsTACAA (p.Asn1721Thrfs)
NM_006206.4(PDGFRA):c.2533_2544delCATGATTCGAAC (p.His845_Asn848del)
NM_003977.3(AIP):c.880_891delCTGGACCCAGCC (p.Asp295_Leu298del)
NM_000059.3(BRCA2):c.1670_1683delTAATTGATAATGGA (p.Leu557Terfs)
NM_007294.3(BRCA1):c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)
NM_000492.3(CFTR):c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs)
NM_000492.3(CFTR):c.1066_1072delTGGGCTGinsA (p.Trp356_Val358delinsIle)
NM_007194.3(CHEK2):c.91_111dup21 (p.Gly37_Ile38insSerSerSerGlnSerGlnGly)
NM_000527.4(LDLR):c.660_666dupCGACTGC (p.Lys223Argfs)
NM_000059.3(BRCA2):c.9550_9563dupCTGCATGCAAATGA (p.Pro3189Cysfs)
NM_182680.1(AMELX):c.155delC (p.Pro52Leufs)
NM_000277.1(PAH):c.1043_1053delTGTCATCCTTT (p.Leu348Argfs)
NM_007294.3(BRCA1):c.78_79insCATCTG (p.Ile26_Cys27insHisLeu)
NM_015474.3(SAMHD1):c.359_370delATCCTATCCATG (p.Asp120_His123del)
NM_000030.2(AGXT):c.33delC (p.Lys12Argfs)
NM_001110792.1(MECP2):c.30delCinsGA (p.Ser10Argfs)
NM_003476.4(CSRP3):c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly)
NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del)
NM_004484.3(GPC3):c.194_206delGTCTCCCTAAGGG (p.Cys65Serfs)
NM_004629.1(FANCG):c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs)
NM_004646.3(NPHS1):c.2548_2557delGCTGCAGCTG (p.Ala850Glufs)
NM_005228.4(EGFR):c.2311_2312insGTT (p.Asn771delinsSerTyr)
NM_014271.3(IL1RAPL1):c.894_903delTTGGGAAAGT (p.Trp299Thrfs)
NM_138701.3(MPLKIP):c.148_152delCACAC (p.His50Alafs)
ADA, IVS11AS, 31701T-A AND 11-BP DEL, NT31702
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs)
NM_005534.3(IFNGR2):c.382_387dupACAATG (p.Met129_Pro130insThrMet)
NM_000264.3(PTCH1):c.43_51delGGCGGCGGC (p.Gly15_Gly17del)
NM_000249.3(MLH1):c.47_53delTGAACCG (p.Val16Alafs)
NM_024312.4(GNPTAB):c.914dupA (p.Asp305Glufs)
NM_000090.3(COL3A1):c.955_974del20insTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319Phefs)
NM_000238.3(KCNH2):c.3099_3109delGCCCCGGGGCG (p.Pro1034Argfs)
NM_000049.2(ASPA):c.32delT (p.Ile11Asnfs)
NM_014795.3(ZEB2):c.1172_1182delAAACAGAACCAinsTGACTTAAAATTAATG (p.Lys391Metfs)
NM_002055.4(GFAP):c.375_380dupGCGGCT (p.Leu127_Asp128insArgLeu)
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA (p.Ile278Thrfs)
NM_007294.3(BRCA1):c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (p.Ser1428_Arg1762delinsTer)
NM_133379.4(TTN):c.15285_15317dup33 (p.Glu5112_Ala5113insThrLeuGluArgTyrSerThrProProGlyGlu)
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
NM_000170.2(GLDC):c.28delC (p.Leu10Cysfs)
NM_005228.4(EGFR):c.2308_2309insGTT (p.Asp770delinsGlyTyr)
NM_004415.3(DSP):c.243_251delCTTGATGCG (p.Cys81_Ile418delinsTer)
NM_005732.3(RAD50):c.3510_3578dup69 (p.Thr1193_Ala1194insGluAsnValSerAlaSerAspLysArgArgAsnTyrAsnTyrArgValValMetLeuLysGlyAspThr)
NM_024675.3(PALB2):c.2482_2504del23insAAGGTACAAT (p.Cys828Lysfs)
NM_003924.3(PHOX2B):c.765_779delGGCAGCGGCGGCAGC (p.Ala256_Ala260del)
NM_002755.3(MAP2K1):c.186_200delACTGAAGGATGACGA (p.Glu62_Asp66del)
NM_001128228.2(TPRN):c.227_237dupGGGCGCGGCTG (p.Leu80Glyfs)
NM_000377.2(WAS):c.395_400dupACGAGG (p.Glu133_Ala134insAspGlu)
NM_001844.4(COL2A1):c.1191_1199dupTCCTGGGTC (p.Gly402_Pro403insSerProGly)
NM_000238.3(KCNH2):c.809_812delCGCGinsAAAAGC (p.Thr270Lysfs)
NM_006343.2(MERTK):c.933_935delCTCinsTT (p.Pro313Argfs)
NM_002055.4(GFAP):c.1047_1048insCACTTG (p.Tyr349_Gln350insHisLeu)
NM_001128228.2(TPRN):c.225_235delGGGGGCGCGGC (p.Gly76Alafs)
NM_000492.3(CFTR):c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs)
NM_000059.3(BRCA2):c.26delC (p.Pro9Glnfs)
NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs)
NM_000701.7(ATP1A1):c.299_313delTCTCAATGTTACTGT (p.Phe100_Leu104del)
NM_005228.4(EGFR):c.2237_2248delAATTAAGAGAAGinsCAC (p.Glu746_Ala750delinsAlaPro)
NM_000027.3(AGA):c.102_108delGCCCTTT (p.Trp34Terfs)
NM_004085.3(TIMM8A):c.73delG (p.Val25Terfs)
NM_000059.3(BRCA2):c.5835_5843dupATCACCTTG (p.Cys1948_Glu2282delinsTer)
NM_007294.3(BRCA1):c.5179_5192delAAAATGCTGAATGA (p.Lys1727Alafs)
NM_005228.4(EGFR):c.2237_2246delAATTAAGAGAinsC (p.Glu746_Glu749delinsAla)
NM_005228.4(EGFR):c.2237_2248delAATTAAGAGAAGinsCCC (p.Glu746_Ala750delinsAlaPro)
NM_000540.2(RYR1):c.12860_12869delCCACGGCGGCinsT (p.Ala4287_Ala4290delinsVal)
NM_000368.4(TSC1):c.2106_2109delACTCinsTTGTTTTAAGAGCGTTT (p.Leu702Phefs)
NM_003639.4(IKBKG):c.220delG (p.Glu74Serfs)
NM_000284.3(PDHA1):c.921_932dupTCAGGAAGTAAG (p.Val310_Arg311insSerGlnGluVal)
NM_001110792.1(MECP2):c.48_55dupCGAGGAGG (p.Glu19Alafs)
NM_012338.3(TSPAN12):c.212_218dupGCTGTTT (p.Phe73Leufs)
NM_007294.3(BRCA1):c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)
NM_017669.2(ERCC6L):c.2803_2812delGAGGCCAAGT (p.Glu935Trpfs)
NM_000540.2(RYR1):c.12960_12968dupGCGGCGGCT (p.Leu4323_Thr4324insArgArgLeu)
NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTGTAG (p.Lys2404Cysfs)
NM_000274.3(OAT):c.472_486delTATACCGTGAAGGGC (p.Tyr158_Gly162del)
NM_000233.3(LHCGR):c.50_55dupTGCAGC (p.Gln18_Pro19insLeuGln)
NM_007294.3(BRCA1):c.815_824dupAGCCATGTGG (p.Thr276Alafs)
NM_003332.3(TYROBP):c.141delG (p.Met48Trpfs)
NM_001145472.2(LOXHD1):c.1780_1792dupAGCTGCTGGCTGG (p.Val598Glufs)
NM_000018.3(ACADVL):c.869dupG (p.Ile291Hisfs)
NM_002968.2(SALL1):c.472_477dupAGCAGC (p.Ser159_Gly160insSerSer)
NM_018451.4(CENPJ):c.17delC (p.Ser7Leufs)
GRM1, 3-BP DEL, NT2652 AND IVS8DS, T-G, +2
NM_000090.3(COL3A1):c.615_629dupACCTGGGCAAGCTGG (p.Pro211_Ser212insGlyGlnAlaGlyPro)
NM_001007026.1(ATN1):c.1462_1464CAG(90_93) (p.Gln502_[binary]...(Total 258))
NM_003036.3(SKI):c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)
NM_012434.4(SLC17A5):c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del)
NM_000138.4(FBN1):c.1624_1634delAATAATGGACG (p.Asn542Leufs)
NM_000507.3(FBP1):c.960delAinsGG (p.Ser321Valfs)
NM_003995.3(NPR2):c.2162_2172delGTGGTCCTTTC (p.Ser721Ilefs)
NM_006206.4(PDGFRA):c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del)
NM_001256850.1(TTN):c.82495_82496delCCinsTGTTATTAGTGATATATCTAA (p.Pro27499Cysfs)
NM_004646.3(NPHS1):c.614_621delCACCCCGGinsTT (p.Thr205_Arg207delinsIle)
NM_014171.5(CRIPT):c.141delT (p.Phe47Leufs)
NM_170707.3(LMNA):c.381_383delGATinsTGGTCACCTGAGAG (p.Ile128Glyfs)
NM_007294.3(BRCA1):c.1303_1309delGATCCTCinsAAAGT (p.Asp435Lysfs)
NM_147196.2(TMIE):c.388_391delAAGAinsG (p.Lys130_Lys131delinsGlu)
NM_000168.5(GLI3):c.2346_2356delGCTAAAACAAG (p.Arg782Serfs)
NM_024312.4(GNPTAB):c.440delC (p.Asn148Thrfs)
NM_004316.3(ASCL1):c.175_186dupCAGCAGCAGCAG (p.Gln62_Ala63insGlnGlnGlnGln)
NM_000059.3(BRCA2):c.1225delGinsTTT (p.Glu409Phefs)
NM_006019.3(TCIRG1):c.2285_2290dupTGGGCC (p.Gly763_Arg764insLeuGly)
NM_138701.3(MPLKIP):c.277delT (p.Ser93Profs)
NM_019887.5(DIABLO):c.702_712delCTACCTGCGTG (p.Tyr235Glyfs)
NM_000380.3(XPA):c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs)
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro)
NM_000136.2(FANCC):c.67delG (p.Asp23Ilefs)
NM_024312.4(GNPTAB):c.857dupA (p.Asn287Glufs)
NM_000218.2(KCNQ1):c.211_219dupGCCGCGCCC (p.Pro73_Pro74insAlaAlaPro)
NM_005228.4(EGFR):c.2239_2257del19insCAAT (p.Leu747_Pro753delinsGlnSer)
NM_130799.2(MEN1):c.79_88delCTGGGCCGAG (p.Leu27Argfs)
NM_000059.3(BRCA2):c.9195_9196delTCinsAT (p.Phe3065_Gln3066delinsLeuTer)
NM_002354.2(EPCAM):c.51_56delGGCGAC (p.Ala18_Thr19del)
NM_000059.3(BRCA2):c.8374_8384delCTTGGATTCTTinsA (p.Leu2792Ilefs)
NM_007294.3(BRCA1):c.3489_3499delTAGTTTTGCTG (p.Ser1164Lysfs)
NM_000397.3(CYBB):c.90_92delCCGinsGGT (p.Tyr30Ter)
NM_001267550.2(TTN):c.91341_91343delGCGinsTAAGTGGGTGTGA (p.Leu30447Phefs)
NM_000059.3(BRCA2):c.2245_2246insTTCAAAAGTGGAATTCAAAA (p.Ser749Ilefs)
NM_000463.2(UGT1A1):c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs)
NM_000059.3(BRCA2):c.3delG (p.Met1Ilefs)
NM_005343.3(HRAS):c.35_36delGCinsCT (p.Gly12Ala)
NM_000059.3(BRCA2):c.1854delCinsAA (p.Gln619Thrfs)
NM_000090.3(COL3A1):c.1763_1769delGTGCTCCinsTAAG (p.Gly588_Pro590delinsValSer)
NM_000059.3(BRCA2):c.4037_4043delCTGTTTGinsT (p.Thr1346_Cys1348delinsIle)
NM_000238.3(KCNH2):c.244_252dupATCGCGCAG (p.Gln84_Ala85insIleAlaGln)
NM_001277115.1(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA (p.Lys4501Argfs)
NM_012330.3(KAT6B):c.4097_4105dupAAGAGGAAG (p.Glu1368_Gly1369insGluGluGlu)
NM_024009.2(GJB3):c.379_387delCTGTGGTGGinsTTCTTGGA (p.Leu127Phefs)
NM_000462.3(UBE3A):c.2513_2525dupCTACATCTCATAC (p.Cys843Tyrfs)
XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN
NM_005228.4(EGFR):c.2232_2252del21insAAAGTT (p.Glu746_Thr751delinsLeu)
NM_000546.5(TP53):c.831_848dup18 (p.Arg283_Thr284insProGlyArgAspArgArg)
NM_000059.3(BRCA2):c.1668_1671delTTTAinsATT (p.Asn556Lysfs)
NM_015102.4(NPHP4):c.2647_2653delGTGGACAinsATGGACC (p.Val883_Ser885delinsMetAspArg)
fragile site, folic acid type, rare, fra(12)(q13.1)
NM_003611.2(OFD1):c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr)
NM_000277.1(PAH):c.929_939delCTCTGGGTGCA (p.Leu311Terfs)
NM_000179.2(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785Glnfs)
NM_139058.2(ARX):c.428_451dup24 (p.Ala150_Ala151insGlyAlaAlaAlaAlaAlaAlaAla)
NM_007294.3(BRCA1):c.2155_2168delAAAGAATTTGTCAA (p.Lys719Serfs)
NM_000059.3(BRCA2):c.9418_9430delGCTGGAGATTTTT (p.Ala3140Leufs)
NM_007294.3(BRCA1):c.3840_3850delTCAGGAACATC (p.Gln1281Profs)
NM_015247.2(CYLD):c.968_977delCAAGAGGTGT (p.Ser323Leufs)
NM_000492.3(CFTR):c.50delT (p.Phe17Serfs)
NM_000051.3(ATM):c.5329_5349dup21 (p.Glu1783_Asn1784insValProArgPheAspLysGlu)
NM_005228.4(EGFR):c.2237_2257del21insTCT (p.Glu746_Pro753delinsValSer)
NM_005228.4(EGFR):c.2239_2264del26insACGAGAGA (p.Leu747_Ala755delinsThrArgAsp)
NM_000059.3(BRCA2):c.9906_9907delGAinsTT (p.Arg3302_Ser3303delinsSerCys)
NM_139242.3(MTFMT):c.146_153delGGGTGCTC (p.Arg49Leufs)
NM_024312.4(GNPTAB):c.625_629delAGGGG (p.Arg209Leufs)
NM_019032.5(ADAMTSL4):c.826_836delCGTGCATCCCC (p.Arg276Serfs)
NM_000492.3(CFTR):c.43delC (p.Leu15Phefs)
NM_006412.3(AGPAT2):c.49_51dupCTG (p.Leu17_Val18insLeu)
NM_017791.2(FLVCR2):c.329_334delACATCT (p.Asn110_Phe112delinsIle)
NM_032667.6(BSCL2):c.193delCinsGGA (p.Pro65Glyfs)
NM_000251.2(MSH2):c.2004delTinsCA (p.Gly669Argfs)
NM_005572.3(LMNA):c.1111_1125delATGGAGATCCACGCC (p.Met371_Ala375del)
NM_000059.3(BRCA2):c.6353_6366delTAAACTCAGAAATG (p.Val2118Glyfs)
NM_005228.4(EGFR):c.2238_2251delATTAAGAGAAGCAAinsGC (p.Leu747_Thr751delinsPro)
NM_005228.4(EGFR):c.2317_2318insCGAACCCCC (p.Pro772_His773insProAsnPro)
NM_000709.3(BCKDHA):c.399delCinsAA (p.Asn134Lysfs)
NM_005957.4(MTHFR):c.264_302dup39 (p.Pro101_Gly102insLeuTyrIleAspValThrTrpHisProAlaGlyAspPro)
NM_000257.3(MYH7):c.3591_3592delCGinsAAGAAGC (p.Asp1198Argfs)
NM_007294.3(BRCA1):c.3075_3076insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA (p.Ile1026Glyfs)
NM_007294.3(BRCA1):c.815_816insTCCATGTGGA (p.Glu272Aspfs)
NM_002834.4(PTPN11):c.179_182delGTGAinsT (p.Gly60_Asp61delinsVal)
NM_000492.3(CFTR):c.1106_1111dupACAAAA (p.Lys370_Ile371insAsnLys)
NM_000059.3(BRCA2):c.7921_7926delGAATTTinsAG (p.Glu2641Argfs)
NM_000535.6(PMS2):c.2182_2187delACTCTCinsGCTC (p.Thr728Alafs)
NM_004826.3(ECEL1):c.797_801delATGGGinsGCT (p.Asp266Glyfs)
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394Asnfs)
NM_003282.3(TNNI2):c.378_389delGCTGGGCTCGAA (p.Leu127_Lys130del)
NM_000377.2(WAS):c.39_40delAGinsCC (p.Gly14Arg)
NM_007294.3(BRCA1):c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
NM_007294.3(BRCA1):c.4807_4821delCCCCAATTGAAAGTT (p.Pro1603_Val1607del)
NM_007294.3(BRCA1):c.1499_1508dupATAAATTAAA (p.Arg504Terfs)
NM_000136.2(FANCC):c.355_360delTCTCATinsA (p.Ser119Asnfs)
NM_000218.2(KCNQ1):c.569_582delGGCTGCGCTTTGCC (p.Arg190Profs)
NM_018062.3(FANCL):c.426_438delTGCTTCTGGTAGA (p.Asp142Glufs)
NM_013247.4(HTRA2):c.728_730delTGCinsCAT (p.Leu243_Pro244delinsProSer)
NM_001309883.1(GNAS):c.992_993insGCAGCCCCT (p.Pro336_Gln337insLeuGlnPro)
NM_000260.3(MYO7A):c.5845_5855delATTGCAGACAA (p.Ile1949Glyfs)
NM_004826.3(ECEL1):c.344_355delACCTGGACGCCA (p.Asn115_Ala118del)
NM_007294.3(BRCA1):c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs)
NM_003070.4(SMARCA2):c.690_707dup18 (p.Gln238_Pro239insGlnGlnGlnGlnGlnGln)
NM_001127221.1(CACNA1A):c.55_56insGAGGAGGCTCCGGGG (p.Gly18_Ala19insGlyGlyGlySerGly)
NM_004572.3(PKP2):c.2443_2448delAACACCinsGAAA (p.Asn815Glufs)
NM_007294.3(BRCA1):c.2787_2788insTTATCACTGCAGGCTTT (p.Pro930Leufs)
NM_000709.3(BCKDHA):c.861_868delAGGCCCCG (p.Gly288Valfs)
NM_019098.4(CNGB3):c.886_896delACTTCTACAAAinsT (p.Thr296Tyrfs)
NM_022068.3(PIEZO2):c.3020_3030delCTGAGAACTTC (p.Pro1007Leufs)
NM_016592.3(GNAS):c.345_356delCGAGTCCGAAAT (p.Ile119_Glu122del)
NM_003159.2(CDKL5):c.679_691delCTAGGACCACTTCinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr)
NM_000465.3(BARD1):c.69_70delGCinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25Glyfs)
NM_032753.3(RAX2):c.417_422dupCCCGGG (p.Gly141_Leu142insProGly)
NM_000492.3(CFTR):c.42delA (p.Lys14Asnfs)
NM_015071.5(ARHGAP26):c.1245delTinsGTGGGG (p.Val416Trpfs)
NM_000059.3(BRCA2):c.4467_4474delAATACTGAinsTGTTTTT (p.Lys1489Asnfs)
NM_001278182.1(EOMES):c.380_381insCGCCGC (p.Ala130_Thr131insAlaAla)
F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL
NM_000495.4(COL4A5):c.2434_2441delCCTCCTGGinsAACCTGGACCAATGGGACCAATGGGAACAC (p.Pro812Asnfs)
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA (p.Gly407Argfs)
NM_024312.4(GNPTAB):c.171delA (p.Asp58Thrfs)
NM_024312.4(GNPTAB):c.755_759delCCTCT (p.Ser252Terfs)
NM_000059.3(BRCA2):c.3645_3646delGTinsTAAAAAG (p.Phe1216Lysfs)
NM_007294.3(BRCA1):c.2037delGinsCC (p.Lys679Asnfs)
NM_000051.3(ATM):c.5791delGinsCCT (p.Ala1931Profs)
NM_005228.4(EGFR):c.2237_2251delAATTAAGAGAAGCAA (p.Glu746_Thr751delinsAla)
NM_005228.4(EGFR):c.2308_2310delGACinsTGGG (p.Asp770Trpfs)
NM_005249.4(FOXG1):c.885delCinsCC (p.Gly296Argfs)
NM_031427.3(DNAL1):c.224_230delTATCTTT (p.Leu75Terfs)
NM_003611.2(OFD1):c.707_719delAAAAGTATGAAAA (p.Lys236Argfs)
NM_000492.3(CFTR):c.3909_3914delCTTGGAinsTGT (p.Leu1304_Asp1305delinsVal)
NM_198056.2(SCN5A):c.3142_3153delCCCATCGCTGTGinsTCTGACTGTGT (p.Pro1048Serfs)
NM_144997.5(FLCN):c.59delT (p.Phe20Serfs)
NM_152594.2(SPRED1):c.1048_1060delGGAAAATGTCAGG (p.Gly350Metfs)
NM_000400.3(ERCC2):c.81_82delGCinsTT (p.Glu27_Leu28delinsAspPhe)
NM_000382.2(ALDH3A2):c.901_903delGCTinsCC (p.Ala301Profs)
NM_001128425.1(MUTYH):c.453_458dupATGGAT (p.Trp152_Met153insIleTrp)
NM_014444.4(TUBGCP4):c.726delCinsAA (p.Leu243Thrfs)
NM_000546.5(TP53):c.796_808delGGACGGAACAGCT (p.Gly266Leufs)
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA
NM_000416.2(IFNGR1):c.1204_1230dup27 (p.Asn410_Gly411insCysSerGluSerAspHisSerArgAsn)
NM_000277.1(PAH):c.205_210dupCCTTCT (p.Ser70_Arg71insProSer)
NM_016381.5(TREX1):c.774_827dup54 (p.Ala276_His277insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla)
NM_005228.4(EGFR):c.2235_2251del17insAATTC (p.Glu746_Thr751delinsIlePro)
NM_007194.3(CHEK2):c.14_20delCGGATGT (p.Ser5Leufs)
NM_002755.3(MAP2K1):c.179_193delTGGGAGAACTGAAGG (p.Val60_Lys64del)
NM_000018.3(ACADVL):c.1730_1740delCCATGGTGGTG (p.Ala577Glyfs)
NM_001110792.1(MECP2):c.738_752delTGAGGGGGGTGGGGC (p.Glu247_Ala251del)
NM_003803.3(MYOM1):c.1175_1339[3] (p.Asn446_[binary]...(Total 360))
NM_001267550.2(TTN):c.26406_26418delCAATGCTGGAAAAinsTGGAAA (p.Asn8803Glyfs)
NM_000141.4(FGFR2):c.755_757delCGCinsTCT (p.Ser252_Pro253delinsPheSer)
NM_000059.3(BRCA2):c.5delC (p.Pro2Leufs)
NM_032228.5(FAR1):c.495_507delAGTAGTCTATCCAinsT (p.Glu165_Pro169delinsAsp)
NM_001271208.1(NEB):c.183_184insCTGGCACAGCCAGCA (p.Ala61_Ser62insLeuAlaGlnProAla)
NM_002055.4(GFAP):c.365_373dupAGCTGCGGC (p.Arg124_Leu125insGlnLeuArg)
NM_032043.2(BRIP1):c.1_2delAT (p.Met1Valfs)
NM_174936.3(PCSK9):c.60_65dupGCTGCT (p.Leu23_Gly24insLeuLeu)
NM_007294.3(BRCA1):c.3729_3730insGACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGG (p.His1244Aspfs)
NM_000059.3(BRCA2):c.9277_9287delTTGTCAGACGA (p.Leu3093Metfs)
NM_014053.3(FLVCR1):c.1619_1631delAAGAACCAAAAACinsGACCCAAAAAT (p.Gln540Argfs)
LRRC8A, 1-BP INS, 2681T, TRANSLOCATION 20
COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION
NM_006206.4(PDGFRA):c.1679_1693delGGGTCATTGAATCAA (p.Arg560_Ser564del)
NM_024312.4(GNPTAB):c.2188delTinsAAA (p.Leu730Lysfs)
NM_015120.4(ALMS1):c.60_77dup18 (p.Glu29_Ala30insGluGluGluGluGluGlu)
NM_003165.3(STXBP1):c.57_59delAAA (p.Ile19_Lys20delinsMet)
NM_005228.4(EGFR):c.2981_2983delACTinsGTG (p.Asp994_Ser995delinsGlyAla)
NM_000124.3(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203Argfs)
NM_000059.3(BRCA2):c.9517_9518insTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT (p.Cys3173Phefs)
NM_007294.3(BRCA1):c.2398_2411delAAATGTGTGAGTCA (p.Lys800Valfs)
NM_139058.2(ARX):c.304_306GCG[17] (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAla)
NM_000218.2(KCNQ1):c.533delCinsGG (p.Ala178Glyfs)
NM_000170.2(GLDC):c.1822_1832delTATGACCAGGT (p.Tyr608Leufs)
NM_000314.6(PTEN):c.547_549delAAGinsT (p.Lys183Terfs)
NM_000071.2(CBS):c.844_845insCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGAT (p.Glu283Serfs)
NM_000059.3(BRCA2):c.1787_1799delATGAAACATCTTA (p.Asp596Valfs)
NM_005228.4(EGFR):c.2235_2249delGGAATTAAGAGAAGC (p.Glu746_Ala750del)
NM_000527.4(LDLR):c.680_692delACGAGGAAAACTG (p.Asp227Alafs)
NM_000503.5(EYA1):c.396_406delGCCGTACGGCA (p.Gln132Hisfs)
NM_000059.3(BRCA2):c.5303_5311delTTGATTCTGinsA (p.Leu1768Glnfs)
NM_001724.4(BPGM):c.61delC (p.Arg21Valfs)
NM_000834.3(GRIN2B):c.99dupC (p.Ser34Glnfs)
NM_133497.3(KCNV2):c.8_11delAACA (p.Lys3Argfs)
NM_000492.3(CFTR):c.44dupT (p.Ser18Glnfs)
NM_007294.3(BRCA1):c.2844_2853delAGGCTCTAGG (p.Gly949Phefs)
NM_007294.3(BRCA1):c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)
NM_020427.2(SLURP1):c.240_246delCGACCCCinsAG (p.Asp81Glyfs)
NM_000489.4(ATRX):c.5167delAinsGAAGGC (p.Ile1723Glufs)
NM_001110792.1(MECP2):c.48_55delCGAGGAGG (p.Glu18Thrfs)
NM_001110556.1(FLNA):c.3875_3888dupACGTCAAGGCCCGT (p.Val1297Thrfs)
NM_139058.2(ARX):c.665_670dupGCACCG (p.Thr223_Glu224insGlyThr)
NM_000059.3(BRCA2):c.2764_2777delTTCAAGAACTCTAC (p.Phe922Hisfs)
NM_001940.3(ATN1):c.1450_1452CAG(8_25) (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGln)
NM_000284.3(PDHA1):c.1074_1109dup36 (p.Ser370_Ser371insProProLeuGluGluLeuGlyTyrHisIleTyrSer)
NM_000059.3(BRCA2):c.6743_6755delATGCCACACATTC (p.His2248Leufs)
NM_007294.3(BRCA1):c.4873_4885delTATAATGCAATGG (p.Tyr1625Lysfs)
NM_020732.3(ARID1B):c.381_386dupGCAGCA (p.Gln131_His132insGlnGln)
NM_007294.3(BRCA1):c.2188_2195delGAAAAAGAinsAAAAAGG (p.Glu730Lysfs)
NM_001135599.3(TGFB2):c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del)
NM_000059.3(BRCA2):c.4698_4712delCCTAAAGTACAGAGA (p.Leu1567_Glu1571del)
NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTG (p.Lys2404Cysfs)
NM_007294.3(BRCA1):c.20_28delGCGTTGAAG (p.Arg7_Glu10delinsGln)
NM_000444.5(PHEX):c.1727_1738delTAATTGTCGGAC (p.Val576_His580delinsAsp)
NM_016239.3(MYO15A):c.10209delGinsCCAGGCCCGTGCAGCTC (p.Gln3403Hisfs)
NM_007294.3(BRCA1):c.2683_2693delCAAAGTCCAAA (p.Gln895Serfs)
NM_014855.2(AP5Z1):c.1413_1426delGGACCTGCCCTGCT (p.Leu473Glyfs)
NM_007294.3(BRCA1):c.814_824dupGAGCCATGTGG (p.Thr276Serfs)
NM_006397.2(RNASEH2A):c.207dupG (p.Thr70Aspfs)
NM_001256182.1(ANKRD11):c.4475_4498dup24 (p.Glu1499_Gln1500insLeuLeuArgHisHisArgAspGlu)
NM_000465.3(BARD1):c.31_45dupCAGCCGAGGATCCGC (p.Arg15_Ser16insGlnProArgIleArg)
NM_000059.3(BRCA2):c.5701_5714delGAGGATATTCTTCA (p.Glu1901Terfs)
NM_007294.3(BRCA1):c.4700_4710delGAATCAGCCTCinsA (p.Gly1567Aspfs)
NM_018055.4(NODAL):c.296delG (p.Ser99Thrfs)
NM_003060.3(SLC22A5):c.254_264dupGGCTCGCCACC (p.Ile89Glyfs)
NM_007294.3(BRCA1):c.2612delCinsTT (p.Pro871Leufs)
NM_001396.3(DYRK1A):c.621_624delTGAGinsGAA (p.Glu208Asnfs)
NM_024306.4(FA2H):c.150_159dupGCGGGCCAGG (p.Asp57Glyfs)
NM_000384.2(APOB):c.35_47delTGGCGCTGCCTGCinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu)
MOGS, ALA22GLU (rs753961807) AND ARG110HIS
NM_005506.3(SCARB2):c.1385_1390delGATCCAinsATGCATGCACC (p.Gly462Aspfs)
NM_004168.3(SDHA):c.996_998delTGTinsCAC (p.Val333Thr)
NM_015474.3(SAMHD1):c.27delC (p.Ser10Profs)
NM_022068.3(PIEZO2):c.1550_1552delGCTinsCGAA (p.Ser517Thrfs)
NM_000059.3(BRCA2):c.104_110delTTTCTTC (p.Leu35Glnfs)
NM_001733.4(C1R):c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr)
NM_024312.4(GNPTAB):c.121delG (p.Val41Phefs)
NM_007294.3(BRCA1):c.3428delCinsTA (p.Ser1143Leufs)
NM_000535.6(PMS2):c.1492_1502delAGCACTTCCGT (p.Ser498Glyfs)
NM_000546.5(TP53):c.766_770delACACTinsCAGGTCAGGACATCCA (p.Thr256Glnfs)
NM_007194.3(CHEK2):c.246_260dupCCAAGAACCTGAGGA (p.Glu86_Glu87insAspGlnGluProGlu)
NM_004429.4(EFNB1):c.92_93insCCTGGAGCCCGTAT (p.Ser39Profs)
NM_005682.6(ADGRG1):c.843_844delCGinsGC (p.Ser281_Gly282delinsArgArg)
NM_015100.3(POGZ):c.402_409dupTGCCAATC (p.His137Leufs)
NM_000059.3(BRCA2):c.6575_6588delTGGAAATTGGTAAA (p.Met2192Asnfs)
NM_000263.3(NAGLU):c.503_512delGGAGCGGCCA (p.Ser169Argfs)
NM_015263.3(DMXL2):c.5827_5841delGATGGCAATGGAAGT (p.Asp1943_Ser1947del)
NM_001002295.1(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228Thrfs)
NM_004360.4(CDH1):c.24_25delCTinsGC (p.Ser9Pro)
NM_002863.4(PYGL):c.44_45insGAGAAGCGGCGGCAGATCAG (p.Ser15Argfs)
NM_001110792.1(MECP2):c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA (p.Pro401Ter)
NM_007294.3(BRCA1):c.1616_1625delCGGAGCAGAA (p.Thr539Metfs)
NM_024312.4(GNPTAB):c.848delA (p.Thr284Leufs)
NM_001267550.2(TTN):c.52656_52684del29insCAGATCCCAAAACAGATCCC (p.Gly17553_Lys17562delinsArgSerGlnAsnArgSerGln)
NM_005228.4(EGFR):c.2290_2291insACCATC (p.Tyr764_Val765insHisHis)
NM_014795.3(ZEB2):c.1927_1934delAAAGGAATinsGG (p.Lys643_Met645delinsGly)
NM_001101.3(ACTB):c.1092_1105dupGTCCGGCCCCTCCA (p.Ile369Serfs)
NM_004937.2(CTNS):c.18_21delGACT (p.Thr7Phefs)
NM_000059.3(BRCA2):c.572delAinsCT (p.Asp191Alafs)
NM_198056.2(SCN5A):c.5529_5543delGAGTGGGGACCGCAT (p.Ser1844_Ile1848del)
NM_018990.3(SASH3):c.912_919delCAAGCTGC (p.Lys305Hisfs)
NM_032043.2(BRIP1):c.2108delAinsTCC (p.Lys703Ilefs)
NM_005359.5(SMAD4):c.1353_1354insGCTACTGCACAAGCTGCAGCAGCTGCCC (p.Gln461Argfs)
NM_138361.5(LRSAM1):c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs)
NM_000179.2(MSH6):c.2036_2042delTGGCCCTinsGG (p.Leu679Trpfs)
NM_000527.4(LDLR):c.1830_1839delCTTGGCCGTC (p.Ala612Argfs)
NM_004629.1(FANCG):c.161dupT (p.His55Profs)
NM_004333.4(BRAF):c.89_100delGCGCCGGCGCCG (p.Gly30_Ala33del)
NM_000059.3(BRCA2):c.2612delCinsTTT (p.Ser871Phefs)
NM_000057.3(BLM):c.1722_1724delAGCinsTAA (p.Leu574_Ala575delinsPheLys)
NM_000059.3(BRCA2):c.1449_1451delAGTinsTTCC (p.Val484Serfs)
NM_000059.3(BRCA2):c.3150_3153delCTTGinsATTTT (p.Leu1051Phefs)
NM_000059.3(BRCA2):c.8317_8330delTCTCTTATGTTAAA (p.Ser2773Aspfs)
NM_006639.3(CYSLTR1):c.68delA (p.Asn23Ilefs)
NM_000335.4(SCN5A):c.3142_3154delCCCATCGCTGTGGinsTCTGACTGTGT (p.Pro1048Serfs)
NM_016169.3(SUFU):c.794_808delACCTGAGTGGTGTCA (p.Asn265_Val269del)
NM_007294.3(BRCA1):c.1887_1900dupAAATCTAAGCCCAC (p.Pro634Glnfs)
NM_000311.4(PRNP):c.160_183GGTGGTGGCTGGGGGCAGCCTCAT(4) (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln)
NM_000059.3(BRCA2):c.2402_2412delACAATTATGAA (p.Asn801Ilefs)
NM_007294.3(BRCA1):c.70_80delTGTCCCATCTG (p.Cys24Serfs)
NM_001256850.1(TTN):c.89257delCinsTCTAGCAG (p.Pro29753Serfs)
NM_007294.3(BRCA1):c.1542_1550delTGAGGATTTinsCG (p.Glu515Valfs)
NM_005853.5(IRX5):c.1362_1368delTAAAGACinsGT (p.Lys455Serfs)
NM_000179.2(MSH6):c.1255_1268delCAGAACTTTGATCT (p.Gln419Cysfs)
NM_006206.4(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)
NM_000059.3(BRCA2):c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)
NM_000492.3(CFTR):c.1008_1019dupATTCACCACCAT (p.Ile340_Ser341insPheThrThrIle)
NM_001943.4(DSG2):c.829_840delCTTGAAGGGATG (p.Leu277_Met280del)
NM_007294.3(BRCA1):c.3358_3368delGTTAATACAGA (p.Val1120Phefs)
NM_198576.3(AGRN):c.4779_4793delGCCCAACCCCTGCCA (p.Gln1593_Cys1597del)
NM_007294.3(BRCA1):c.1387_1390delAAAAinsGAAAG (p.Lys463Glufs)
NM_007294.3(BRCA1):c.2488_2497dupAAGTATCCAT (p.Leu833Terfs)
NM_003280.2(TNNC1):c.74_82delACATCTTCG (p.Asp25_Phe27del)
NM_005228.4(EGFR):c.2230_2249del20insGTCAA (p.Ile744_Ala750delinsValLys)
NM_000527.4(LDLR):c.674_683delAATCTGACGA (p.Lys225Argfs)
NM_000535.6(PMS2):c.139_146delCTGGATGC (p.Leu47Trpfs)
NM_007294.3(BRCA1):c.3416_3427delGTAGTCATGCATinsC (p.Ser1139Thrfs)
NM_007294.3(BRCA1):c.1497_1509delAAATAAATTAAAG (p.Asn500Valfs)
NM_006734.3(HIVEP2):c.1366_1377delATGGAACCATTA (p.Met456_Leu459del)
NM_000314.6(PTEN):c.47dupA (p.Tyr16Terfs)
NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)
NM_000060.4(BTD):c.98_104delGCGGCTGinsTCC (p.Cys33Phefs)
NM_000059.3(BRCA2):c.3096_3110delAGATATTGAAGAACAinsT (p.Lys1032Asnfs)
NM_000275.2(OCA2):c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal)
NM_004329.2(BMPR1A):c.884delAinsGTTCATAGCGG (p.Asp295Glyfs)
NM_001110792.1(MECP2):c.47_57delGCGAGGAGGAG (p.Gly16Glufs)
NM_001408.2(CELSR2):c.8235_8246dupAGAAGAGGAGGA (p.Glu2752_Ala2753insGluGluGluGlu)
NM_000059.3(BRCA2):c.4741delGinsAA (p.Glu1581Lysfs)
NM_000018.3(ACADVL):c.343delG (p.Glu115Lysfs)
NM_000090.3(COL3A1):c.1068_1069insGACCCTGCA (p.Ala356_Gly357insAspProAla)
NM_005228.4(EGFR):c.2235_2248delGGAATTAAGAGAAGinsAATTC (p.Glu746_Ala750delinsIlePro)
NM_001110792.1(MECP2):c.905_916delAGTCTTCTATCCinsCACA (p.Glu302Alafs)
NM_000059.3(BRCA2):c.2971_2983delAACAAATGGGCAG (p.Asn991Aspfs)
NM_007294.3(BRCA1):c.807_817dupGCATGTGGAGC (p.Pro273Argfs)
NM_020975.4(RET):c.1896_1900delGCTGTinsCGTGC (p.Glu632_Cys634delinsAspValArg)
NM_000059.3(BRCA2):c.8848delAinsCT (p.Lys2950Leufs)
NM_000492.3(CFTR):c.1408_1417delGTGATTATGG (p.Val470Glufs)
NM_001040147.2(SERPINB7):c.218_219delAGinsTAAACTTTACCT (p.Gln73Leufs)
NM_017780.3(CHD7):c.5177_5190delGCTACAAGAAACACinsT (p.Ser1726Ilefs)
NM_006329.3(FBLN5):c.255_266delGACCCCCTACTC (p.Thr86_Ser89del)
NM_172107.3(KCNQ2):c.1569_1581delCCCCTGCGAGTTT (p.Cys523Trpfs)
NM_000382.2(ALDH3A2):c.941_943delCCCinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
NM_003977.3(AIP):c.805_825dup21 (p.His275_Ala276insPheLysArgGlyLysAlaHis)
NM_005660.2(SLC35A2):c.500_509delTGCAGTGGGC (p.Leu167Profs)
NM_000179.2(MSH6):c.172_177dupAGGCCC (p.Pro59_Leu60insArgPro)
NM_007294.3(BRCA1):c.3731_3743delATAGCACCGTTGC (p.His1244Leufs)
NM_004985.4(KRAS):c.27_29dupTGG (p.Gly10_Ala11insGly)
NM_000059.3(BRCA2):c.1449_1451delAGTinsTTAC (p.Val484Tyrfs)
NM_005228.4(EGFR):c.2311_2312insCAC (p.Asn771delinsThrHis)
NM_018418.4(SPATA7):c.1241_1252delTCCTGAAAGTAG (p.Val414_Val417del)
NM_000314.6(PTEN):c.46dupT (p.Tyr16Leufs)
NM_000059.3(BRCA2):c.9331_9335delGAGGAinsCCT (p.Glu3111Profs)
NM_007294.3(BRCA1):c.230delCinsGTCAACTTGTT (p.Thr77Serfs)
NM_023110.2(FGFR1):c.1764_1774delCCACAACCCAG (p.Ser588Argfs)
NM_000548.4(TSC2):c.3846_3855delCTGCCAAGGAinsG (p.Ser1282_Gly1285delinsArg)
NM_004992.3(MECP2):c.1160_1200del41insAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp)
NM_005219.4(DIAPH1):c.1853_1854insTCCTCC (p.Pro620_Leu621insProPro)
NM_001079.3(ZAP70):c.1510_1522delAAGTGGTACGCAC (p.Lys504Profs)
NM_000059.3(BRCA2):c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)
NM_005477.2(HCN4):c.1920_1932dupCAGCGTGCTCACC (p.Lys645Glnfs)
NM_000314.6(PTEN):c.85_88delTATC (p.Tyr29Glnfs)
NM_001396.3(DYRK1A):c.727_729delTACinsATAGAGGTTGT (p.Tyr243Ilefs)
NM_015702.2(MMADHC):c.57_64delCTCTTTAG (p.Ser20Terfs)
NM_000492.3(CFTR):c.1075_1079delCAAACinsAAAAA (p.Gln359_Thr360delinsLysLys)
NM_000111.2(SLC26A3):c.1030_1047del18insGATGCC (p.Phe344_Val349delinsAspAla)
NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)
NM_000277.1(PAH):c.822_832delGCCCATGTATA (p.Lys274Asnfs)
NM_005228.4(EGFR):c.2239_2248delTTAAGAGAAGinsC (p.Leu747_Ala750delinsPro)
NM_024422.4(DSC2):c.2548delGinsTT (p.Ala850Phefs)
NM_001009944.2(PKD1):c.11251_11265dupCAGGTGCGGCTGCAG (p.Gln3755_Glu3756insGlnValArgLeuGln)
NM_000018.3(ACADVL):c.316_325delGTGGAGCCTG (p.Val106Cysfs)
NM_000016.5(ACADM):c.244dupT (p.Trp82Leufs)
NM_024715.3(TXNDC15):c.672_686delCAGTTTGGCCCCTCA (p.Ser225_His229del)
NM_007294.3(BRCA1):c.3482_3492delAAGATACTAGT (p.Glu1161Valfs)
NM_007294.3(BRCA1):c.729_730insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244Valfs)
NM_000055.2(BCHE):c.435delTinsAG (p.Phe146Valfs)
NM_007294.3(BRCA1):c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)
NM_000335.4(SCN5A):c.3112delAinsCCC (p.Thr1038Profs)
NM_000517.4(HBA2):c.340_351delCTCCCCGCCGAG (p.Leu114_Glu117del)
NM_000179.2(MSH6):c.170_182delCCAGGCCCTTGGC (p.Pro57Argfs)
NM_001165963.1(SCN1A):c.4158_4163delCATCGAinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1386Glufs)
NM_014855.2(AP5Z1):c.80_83delGGATinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ala362delinsLeuLeuTer)
NM_000111.2(SLC26A3):c.145_157delAAGGCCAAGAGAA (p.Lys49Leufs)
NM_000543.4(SMPD1):c.132_143delGCTGGCGCTGGC (p.Ala46_Leu49del)
NM_001166110.1(PALLD):c.125_139delCCTCCAGCCCCAGCT (p.Pro45_Ser49del)
NM_130838.1(UBE3A):c.1365_1379delGACATGTCCCTTTAT (p.Met455_Phe459del)
NM_015999.5(ADIPOR1):c.31delC (p.Gln11Argfs)
NM_000059.3(BRCA2):c.4853delAinsGCTCT (p.Asp1618Glyfs)
NM_000270.3(PNP):c.778_790delGTCTTAGCAGCTGinsCA (p.Val260Glnfs)
NM_000328.2(RPGR):c.642_656delTGGAGAACCTGAGAAinsC (p.Gly215Trpfs)
NM_000059.3(BRCA2):c.1587delTinsCA (p.Glu532Argfs)
NM_015702.2(MMADHC):c.307_324dup18 (p.Ser108_Ser109insLeuAlaGluProLeuSer)
NM_003052.4(SLC34A1):c.460_480dup21 (p.Val160_Gln161insIleLeuValThrValLeuVal)
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs)
NM_007294.3(BRCA1):c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)
NM_000060.4(BTD):c.1227_1241delGGGAAAGGAAGGCTAinsTTCCAATGGCC (p.Trp409Cysfs)
NM_000492.3(CFTR):c.1973_1985delGAAATTCAATCCTinsAGAAA (p.Arg658Lysfs)
NM_007294.3(BRCA1):c.4575_4585delAGAGGAGCTCA (p.Gln1525Hisfs)
NM_170707.3(LMNA):c.586_596delAGGCTGCAGAC (p.Arg196Hisfs)
NM_004572.3(PKP2):c.968_971delAGGCinsGCCT (p.Gln323_Ala324delinsArgLeu)
NM_003745.1(SOCS1):c.139_140insTCCCGG (p.Pro46_Ala47insValPro)
NM_000059.3(BRCA2):c.52_61delCGCTGCAACA (p.Arg18Lysfs)
NM_007294.3(BRCA1):c.4995_5007dupGTACAAGTTTGCC (p.Arg1670Valfs)
NM_007294.3(BRCA1):c.239_241delGTCinsTT (p.Ser80Ilefs)
NM_015120.4(ALMS1):c.66_74dupGGAGGAGGA (p.Glu29_Ala30insGluGluGlu)
NM_153704.5(TMEM67):c.125_130dupCTTTCC (p.Phe43_Gln44insProPhe)
NM_000059.3(BRCA2):c.8978_8991delCATCAGATTTATAT (p.Ser2993Phefs)
NM_000051.3(ATM):c.1439_1448delTATTAAAACT (p.Leu480Serfs)
NM_002641.3(PIGA):c.68dupG (p.Ser24Lysfs)
NM_000095.2(COMP):c.1279_1291delGGAGATGCTTGTG (p.Gly427Thrfs)
NM_000088.3(COL1A1):c.3150_3158dupTCCTGGTGC (p.Gly1055_Pro1056insAlaProGly)
NM_000548.4(TSC2):c.3913_3916delCCGGinsTGGA (p.Pro1305_Gly1306delinsTrpSer)
NM_007294.3(BRCA1):c.1428_1437delTGTAACTGAA (p.His476Glnfs)
NM_015702.2(MMADHC):c.419dupA (p.Tyr140Terfs)
NM_000170.2(GLDC):c.2153_2155delATCinsTCCTGGTTTA (p.His718Leufs)
NM_000059.3(BRCA2):c.2930_2940delTGAATATAGAT (p.Leu977Terfs)
NM_001943.4(DSG2):c.86_87delTAinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29Tyrfs)
NM_000342.3(SLC4A1):c.569_579delCCCAACACTCC (p.Pro190Leufs)
NM_003159.2(CDKL5):c.207_213delGGAAAAC (p.Glu70Leufs)
NM_000317.2(PTS):c.361_374delGTTCTTCCTGTAGG (p.Val121Serfs)
NM_000218.2(KCNQ1):c.211_219delGCCGCGCCC (p.Ala71_Pro73del)
NM_024009.2(GJB3):c.652_663delCTGCACAAGGAC (p.Leu218_Asp221del)
NM_002109.5(HARS):c.911_922delTGCTCTTTGAGT (p.Leu304_Glu307del)
NM_001453.2(FOXC1):c.116_123delCCATGCCG (p.Ala39Glyfs)
NM_000492.3(CFTR):c.2687_2690delCTCAinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer)
NM_005228.4(EGFR):c.2231_2232insAAAATTCCCGTCGCTA (p.Glu746Phefs)
NM_000545.6(HNF1A):c.1720_1733delGGCATCCAGCACCTinsGGCATCCAGCACC (p.Leu578Argfs)
NM_000059.3(BRCA2):c.765_770delCACAAAinsAAACAAT (p.Asn255Lysfs)
NM_033337.2(CAV3):c.10_17delGAAGAGCA (p.Glu4Hisfs)
NM_000059.3(BRCA2):c.9463_9467delTTTCAinsGAATGATC (p.Phe3155_Ile3418delinsGlu)
NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del)
NM_005228.4(EGFR):c.2240_2254delTAAGAGAAGCAACAT (p.Leu747_Thr751del)
NM_001567.3(INPPL1):c.35dupG (p.Ala13Argfs)
NM_004316.3(ASCL1):c.178_186delCAGCAGCAG (p.Gln60_Gln62del)
NM_000056.4(BCKDHB):c.93_103dupGGCGCGGGGCT (p.Phe35Trpfs)
NM_001164277.1(SLC37A4):c.923_934dupTGGCTGGCATGA (p.Met311_Thr312insMetAlaGlyMet)
NM_000059.3(BRCA2):c.568_575delCCTGATAT (p.Pro190Valfs)
NM_000059.3(BRCA2):c.9106delCinsTACT (p.Gln3036_Arg3370delinsTyrTer)
NM_007294.3(BRCA1):c.2214_2218delTAAAGinsAAA (p.Lys739Asnfs)
NM_007294.3(BRCA1):c.1068_1077delGAAACTGCCA (p.Gln356Hisfs)
NM_007294.3(BRCA1):c.3084_3094delTAATAACATTA (p.Asn1029Argfs)
NM_007294.3(BRCA1):c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)
NM_017739.3(POMGNT1):c.25dupC (p.Leu9Profs)
NM_017890.4(VPS13B):c.22_23delCCinsA (p.Pro8Lysfs)
NM_000090.3(COL3A1):c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL)
NM_000359.2(TGM1):c.398_407dupAGTATGAGTA (p.Tyr136Terfs)
NM_000308.3(CTSA):c.105_108delGCTGinsC (p.Leu37del)
NM_000492.3(CFTR):c.2589_2599delAATTTGGTGCT (p.Ile864Serfs)
NM_000111.2(SLC26A3):c.2104_2105delGGinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe)
NM_000136.2(FANCC):c.175dupA (p.Thr59Asnfs)
NM_001456.3(FLNA):c.885_892delCAACATGG (p.Asn296Glufs)
NM_001007026.1(ATN1):c.1462_1464CAG(49_55) (p.Gln502_His503insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_000059.3(BRCA2):c.7185_7190delCTTGATinsAG (p.His2395Glnfs)
NM_007294.3(BRCA1):c.75_80dupCATCTG (p.Cys27_Leu28insIleCys)
NM_023067.3(FOXL2):c.142_173del32insGCGCT (p.Lys48_Ser58delinsAlaLeu)
NM_000297.3(PKD2):c.357_364delCCCGGGCAinsTAGGACG (p.Pro120Argfs)
NM_007294.3(BRCA1):c.2077delGinsATA (p.Asp693Ilefs)
NM_000492.3(CFTR):c.319_326delGCTTCCTA (p.Ala107Terfs)
NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY)
NM_000059.3(BRCA2):c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)
NM_000894.2(LHB):c.28_39delTTGCTGCTGCTG (p.Leu10_Leu13del)
NM_001110792.1(MECP2):c.18_23dupCGCCGC (p.Ala8_Pro9insAlaAla)
NM_001131019.2(GFAP):c.1292_*3delGTTAGCTGinsATC (p.Val431_Met432delinsAspArgGlnAspProProGlyGlyLeuCysProValSer(Val431AspfsTer14))
NM_024298.4(MBOAT7):c.820_826delGGCGGCC (p.Gly274Profs)
NM_007294.3(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209Argfs)
NM_000090.3(COL3A1):c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW)
DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1
NM_003036.3(SKI):c.283_291delGACCGCTCC (p.Asp95_Ser97del)
NM_000059.3(BRCA2):c.215delAinsTT (p.Asn72Ilefs)
NM_000059.3(BRCA2):c.8229_8243delCAGACTGACAGTTGG (p.Arg2744_Gly2748del)
NM_002335.3(LRP5):c.55_60dupCTGCTG (p.Leu20_Ala21insLeuLeu)
NM_004004.5(GJB2):c.523_533delCCCAACACTGT (p.Pro175Glyfs)
NM_000059.3(BRCA2):c.48_50delGACinsATCGATCGAT (p.Thr17Serfs)
NM_007294.3(BRCA1):c.829_836delAATACTCA (p.Asn277Cysfs)
NM_024312.4(GNPTAB):c.163dupT (p.Ser55Phefs)
NM_024312.4(GNPTAB):c.749dupA (p.Asn250Lysfs)
NM_000481.3(AMT):c.452_466delAAGATTTGGCCCTCA (p.Lys151_Leu155del)
NM_000238.3(KCNH2):c.560_568dupGCGCGGGCG (p.Gly189_Ala190insGlyAlaGly)
NM_024334.2(TMEM43):c.83_87delGGCTGinsAGGA (p.Arg28Glnfs)
NM_019098.4(CNGB3):c.819_826delCAGACTCC (p.Arg274Valfs)
NM_031372.3(HNRNPDL):c.99_113delGCCGCCGCGGCAGCT (p.Pro34_Leu38del)
NM_000500.7(CYP21A2):c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys)
NM_000352.4(ABCC8):c.3124_3126delACCinsCAGCCAGGAACTG (p.Thr1042Glnfs)
NM_000179.2(MSH6):c.3904_3921dup18 (p.Asn1307_Leu1308insAlaAlaArgLeuAlaAsn)
NM_206933.2(USH2A):c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs)
NM_000368.4(TSC1):c.1092_1105delTGTCCCACCTGATC (p.Pro366Thrfs)
NM_000368.4(TSC1):c.1097_1110delCACCTGATCTGTCA (p.Asp368Leufs)
NM_000368.4(TSC1):c.1196_1209delCACTCTGTCATTCG (p.Pro399Argfs)
NM_000368.4(TSC1):c.1757_1765delGTAAAATTC (p.Cys586_Pro589delinsSer)
NM_000368.4(TSC1):c.191_199delTGCAAGAGC (p.Leu64_Pro67delinsSer)
NM_000368.4(TSC1):c.2030_2040delCCCACTTTGGA (p.Thr677Argfs)
NM_000368.4(TSC1):c.2069_2074delCCCTCCinsACACTT (p.Thr690_Arg692delinsAsnThrTer)
NM_000368.4(TSC1):c.2411_2424delGGAACATGATTGCG (p.Asn805Alafs)
NM_000368.4(TSC1):c.395_406delGCGTCTTGGTGTinsCA (p.Gly132Alafs)
NM_000548.4(TSC2):c.1616_1628delTCTCCCCACCCCC (p.Leu539Argfs)
NM_000548.4(TSC2):c.2145_2158dupGTCCCTGCGCTATA (p.Lys720Serfs)
NM_000548.4(TSC2):c.900_914dupCATGGCTCTCTGGGG (p.Gly305_Ala306insMetAlaLeuTrpGly)
NM_000548.4(TSC2):c.5144_5155delTGGCCCTGCACG (p.Met1715_Ala1719delinsThr)
NM_000548.4(TSC2):c.330delGinsAT (p.Gly111Trpfs)
NM_000548.4(TSC2):c.2061_2073delCCTGCTCTTCCGC (p.Leu688Serfs)
NM_000548.4(TSC2):c.1011_1014delGATCinsCATGGCAT (p.Glu337Aspfs)
NM_000548.4(TSC2):c.2669_2677delATCACGTCA (p.His890_Ile893delinsLeu)
NM_000548.4(TSC2):c.307_315dupGCTCTGCTG (p.Leu105_Lys106insAlaLeuLeu)
NM_000548.4(TSC2):c.4630_4638delAAGATCGCCinsCGTCGTGG (p.Lys1544Argfs)
NM_000548.4(TSC2):c.2363_2377delTGGTCTACTGCCTGGinsC (p.Met788Thrfs)
NM_025152.2(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223Alafs)
NM_012330.3(KAT6B):c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs)
NM_201647.2(STAMBP):c.411delC (p.Ile138Serfs)
NM_000374.4(UROD):c.6_15delAGCGAATGGG (p.Glu2Aspfs)
NM_000368.4(TSC1):c.2106delAinsGT (p.Leu703Serfs)
NM_000368.4(TSC1):c.1757_1768delGTAAAATTCCACinsCA (p.Cys586Serfs)
NM_000548.4(TSC2):c.3745_3756dupCTGTACAAGTCA (p.Leu1253_Ser1254insTyrLysSerLeu)
NM_000548.4(TSC2):c.4183_4195delCAGGACATCCTCG (p.Gln1395Glyfs)
NM_000548.4(TSC2):c.45_51delTAAGATT (p.Lys16Cysfs)
NM_000548.4(TSC2):c.1872delCinsTT (p.Ser625Phefs)
NM_000548.4(TSC2):c.4672_4684dupGAGCTCGCCATCC (p.Leu1562Argfs)
NM_000548.4(TSC2):c.565_575delTGTTACCTCGA (p.Cys189Argfs)
NM_000548.4(TSC2):c.1610_1622delGCTCCCTCTCCCC (p.Arg537Hisfs)
NM_000548.4(TSC2):c.239_249dupCACTCTGGAAG (p.Ala84Hisfs)
NM_000548.4(TSC2):c.2721delTinsAG (p.Asp907Glufs)
NM_000548.4(TSC2):c.1889_1893delGCCTGinsATGCA (p.Gly630_Leu631delinsAspAla)
NM_000548.4(TSC2):c.4361_4372delGTGGCCTCCGGC (p.Ser1454_Pro1458delinsThr)
NM_005413.3(SIX3):c.696_705delCCCCAGCAAG (p.Asn232Lysfs)
NM_000081.3(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077Phefs)
NM_194248.2(OTOF):c.2905_2923del19insCTCCGAGCGCA (p.Ala969Leufs)
NM_000193.3(SHH):c.1210_1224delGGGGACCGCGGGGGC (p.Asp405_Gly409del)
NM_000193.3(SHH):c.9_10insGCTG (p.Leu4Alafs)
NM_000193.3(SHH):c.38_45delTCTCCTCG (p.Val13Alafs)
NM_006073.3(TRDN):c.53_56delACAG (p.Asp18Alafs)
NM_177438.2(DICER1):c.3611_3616delACTACAinsT (p.Tyr1204Leufs)
NM_000226.3(KRT9):c.500_500delAinsGGCT (p.Tyr167delinsTrpLeu)
NM_000421.3(KRT10):c.465_466delCCinsAA (p.Asp155_Arg156delinsGluSer)
NM_000422.2(KRT17):c.287_298delCCTCCTACCTGG (p.Ala96_Leu99del)
NM_000424.3(KRT5):c.1285_1299delAGGAACAAGCTGGCC (p.Arg429_Ala433del)
NM_000424.3(KRT5):c.1362_1365delGGAGinsAGCTGGTA (p.Glu455Alafs)
NM_000526.4(KRT14):c.1117_1158dup42 (p.Gln386_Leu387insIleGlnGluMetIleGlySerValGluGluGlnLeuAlaGln)
NM_000526.4(KRT14):c.744delCinsAG (p.Tyr248Terfs)
NM_002055.4(GFAP):c.256_259delAAGGinsGAGT (p.Lys86_Val87delinsGluPhe)
NM_006121.3(KRT1):c.502_513delGAGATTGACCCT (p.Asp170_Ile173del)
NM_006121.3(KRT1):c.508_519delGACCCTGAGATC (p.Asp170_Ile173del)
NM_006158.4(NEFL):c.48_60dupGCGCTACGTGGAG (p.Thr21Alafs)
NM_006158.4(NEFL):c.963_977delATGCCGGGGCATGAA (p.Cys322_Asn326del)
NM_170707.3(LMNA):c.28dupA (p.Thr10Asnfs)
NM_170707.3(LMNA):c.31delC (p.Arg11Alafs)
NM_170707.3(LMNA):c.588_596delGCTGCAGAC (p.Arg196_Thr199delinsSer)
NM_170707.3(LMNA):c.815_818delACAAinsCCAGAC (p.Asp272Alafs)
NM_001128425.1(MUTYH):c.1498_1502invCAACA (p.Gln500_Gln501delinsCysTrp)
NM_001128425.1(MUTYH):c.1214_1224delCGTCCGTGACC (p.Pro405Leufs)
NM_000251.2(MSH2):c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs)
NM_000551.3(VHL):c.123_137delAGAGTCCGGCCCGGA (p.Ser43_Glu47del)
NM_000313.3(PROS1):c.967delTinsGG (p.Phe323Glyfs)
NM_000038.5(APC):c.6085_6093dupTCTCTTAGT (p.Ser2031_Ile2032insSerLeuSer)
NM_004629.1(FANCG):c.156dupG (p.Leu53Alafs)
NM_020975.4(RET):c.43_44insTGCTGCTGC (p.Leu19_Pro20insLeuLeuLeu)
NM_000059.3(BRCA2):c.4515_4525delCTTCCAGGGAC (p.Phe1506Thrfs)
NM_000257.3(MYH7):c.2312_2320dupGGCTGCTGG (p.Leu773_Glu774insGlyLeuLeu)
NM_152490.4(B3GALNT2):c.1438_1455dup18 (p.Trp485_Lys486insGluLeuThrGluLeuTrp)
NM_003824.3(FADD):c.52_58delAGCGAGC (p.Ser18Terfs)
NM_003119.3(SPG7):c.2120delTinsCCAAGTCTGTA (p.Val707Alafs)
NM_003673.3(TCAP):c.24_25insGAGGTGT (p.Ser11Terfs)
NM_000070.2(CAPN3):c.883_886delGATAinsCTT (p.Asp295Leufs)
NM_003990.4(PAX2):c.57_58insGTGAACC (p.Gln22Argfs)
NM_000264.3(PTCH1):c.1591_1601delATCCCTTTTGA (p.Ile531Glyfs)
NM_020989.3(CRYGC):c.328_329delCCinsT (p.Pro110Serfs)
NM_012064.3(MIP):c.597_598insGGGAACATTCCACT (p.Asn200Glyfs)
NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg)
NM_004366.5(CLCN2):c.1113delCinsACTGCTCAT (p.Ser375Cysfs)
NM_001287174.1(ABCC8):c.1732_1746dupGCCTCCCTCTCCCTC (p.Leu582_Phe583insAlaSerLeuSerLeu)
NM_000179.2(MSH6):c.3939_3940insTCAAAAGGGACATAGAAAA (p.Gln1314Serfs)
NM_000249.3(MLH1):c.1790_1791delGGinsATCTGGACC (p.Trp597Tyrfs)
NM_000249.3(MLH1):c.1834_1847delGTTGAGTTTCTGAAinsT (p.Val612Terfs)
NM_000038.5(APC):c.1892_1904delTTATTGAAAGTGGinsAAT (p.Ile631Lysfs)
NM_033453.3(ITPA):c.359_366dupTCAGCACC (p.Gly123Serfs)
NM_138701.3(MPLKIP):c.505dupA (p.Thr169Asnfs)
NM_181675.3(PPP2R2B):c.43_57dupAGCAGCAGCAGCAGC (p.Ser19_Cys20insSerSerSerSerSer)
NM_020928.1(ZSWIM6):c.69_74delCGGCGG (p.Gly25_Gly26del)
NM_020928.1(ZSWIM6):c.82_83insGCG (p.Gly33_Ala34insGly)
NM_002439.4(MSH3):c.181_182insCAGCGCCCC (p.Pro69_Ala70insProAlaPro)
NM_004557.3(NOTCH4):c.36_47delGCTGCTGCTGCT (p.Leu13_Leu16del)
NM_152414.4(BHLHE22):c.660_661insAGCGGC (p.Gly224_Gly225insSerGly)
NM_003070.4(SMARCA2):c.666_667insCAGCAG (p.Gln238_Pro239insGlnGln)
NM_007077.4(AP4S1):c.436_437insAGC (p.Ser146delinsLysArg)
NM_004993.5(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_020433.4(JPH2):c.511_516dupAGCAAC (p.Asn172_Gly173insSerAsn)
NM_000899.4(KITLG):c.200_202delATT (p.His67_Cys68delinsArg)
NM_005397.3(PODXL):c.89_90insGTCGCCCC (p.Gln32Profs)
NM_015702.2(MMADHC):c.455dupC (p.Cys153Metfs)
NM_015702.2(MMADHC):c.228dupG (p.Asn77Glufs)
NM_015702.2(MMADHC):c.133dupG (p.Ala45Glyfs)
NM_015702.2(MMADHC):c.60_61insAT (p.Leu21Ilefs)
NM_052845.3(MMAB):c.56_57delGCinsAA (p.Arg19Gln)
NM_004119.2(FLT3):c.1773_1793dup21 (p.Tyr597_Glu598insAspValAspPheArgGluTyr)
NM_014619.4(GRIK4):c.2713_2727delCTGGCGCAGGAGGCCinsGCT (p.Leu905_Glu908del)
NM_139058.2(ARX):c.1002_1007delGTTCACinsTGTACCA (p.Phe335Valfs)
NM_007294.3(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853Phefs)
NM_016417.2(GLRX5):c.86_93dupTGCGGGCG (p.Ala32Cysfs)
NM_000249.3(MLH1):c.25_26delCGinsTA (p.Arg9Ter)
NM_005359.5(SMAD4):c.886_895delCCCCATCCCG (p.Pro296Aspfs)
NM_006859.3(LIAS):c.475_477delGAGinsAAA (p.Glu159Lys)
NM_025207.4(FLAD1):c.526_537delGCAGGGGGCATCinsCA (p.Ala176Glnfs)
NM_206933.2(USH2A):c.5614delGinsTTAACTTGGCAT (p.Ala1872Leufs)
NM_000048.3(ASL):c.575_580dupAGCGGA (p.Arg193_Ile194insLysArg)
NM_018283.3(NUDT15):c.50_55dupGAGTCG (p.Val18_Val19insGlyVal)
NM_001007593.2(SMPD1):c.1488_1500delCCGTGTGTACCAA (p.Tyr496Terfs)
NM_000059.3(BRCA2):c.2184_2195dupTATAAAAGAAGA (p.Glu731_Glu732insAspIleLysGlu)
NM_000016.5(ACADM):c.107_113dupGATTTAG (p.Ser38Argfs)
NM_000016.5(ACADM):c.817_829delGCAATGGGAGCTT (p.Ala273Leufs)
NM_000016.5(ACADM):c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs)
NM_000527.4(LDLR):c.1715_1719delGTGGCinsA (p.Ser572Asnfs)
NM_004260.3(RECQL4):c.2569_2574dupTGCACC (p.Thr858_Arg859insCysThr)
NM_000553.4(WRN):c.3209_3211delGTCinsTTT (p.Cys1070_Pro1071delinsPheSer)
NM_017617.4(NOTCH1):c.17_18delCGinsTT (p.Ala6Val)
NM_000136.2(FANCC):c.29dupG (p.Cys10Trpfs)
NM_024642.4(GALNT12):c.136_138delGGGinsAGA (p.Gly46Arg)
NM_001134363.2(RBM20):c.138_149dupGCCGCCCCAGCC (p.Pro52_Pro53insGlnProProPro)
NM_020975.4(RET):c.57_65dupGCCGCTGCT (p.Leu22_Gly23insProLeuLeu)
NM_000314.6(PTEN):c.53delA (p.Glu18Glyfs)
NM_000314.6(PTEN):c.409_411delGCAinsTTT (p.Ala137Phe)
NM_003002.3(SDHD):c.10dupC (p.Leu4Profs)
NM_000076.2(CDKN1C):c.630_635dupCGCCCC (p.Pro216_Asp217insAlaPro)
NM_000076.2(CDKN1C):c.632_633insACCGGC (p.Pro216_Asp217insAlaPro)
NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro)
NM_000076.2(CDKN1C):c.618_629delGGCCCCGGCCCC (p.Ala213_Pro216del)
NM_000076.2(CDKN1C):c.600_611delAGCCCCGGCCCC (p.Ala213_Pro216del)
NM_000076.2(CDKN1C):c.600_611dupAGCCCCGGCCCC (p.Pro216_Asp217insAlaProAlaPro)
NM_000076.2(CDKN1C):c.560_561insCCCGGC (p.Pro194_Val195insAlaPro)
NM_000076.2(CDKN1C):c.543_554delCCCGGCCCCGGC (p.Ala191_Pro194del)
NM_006231.3(POLE):c.5912_5913insAGTGGAGGAATCCAA (p.Ser1970_Asn1971insLysValGluGluSer)
NM_000059.3(BRCA2):c.638_646dupATGAAGAAG (p.Glu215_Ala216insAspGluGlu)
NM_144599.4(NIPA1):c.39_47delGGCGGCGGC (p.Ala14_Ala16del)
NM_032575.2(GLIS2):c.1194_1208dupGGGCCCTGGGCTGCC (p.Pro405_Val406insGlyLeuProGlyPro)
NM_000135.2(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer)
NM_018127.6(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp)
NM_144997.5(FLCN):c.828delTinsAGA (p.Ala277Glufs)
NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567Ilefs)
NM_001128849.1(SMARCA4):c.722_733delGTCCCGGCCCGG (p.Gly241_Pro244del)
NM_000527.4(LDLR):c.1098_1109delGCTCTGCGTGAA (p.Gln366_Asn370delinsHis)
NM_004364.4(CEBPA):c.558_566delGCCGCCGCC (p.Pro187_Pro189del)
NM_004364.4(CEBPA):c.277_278delGCinsAA (p.Ala93Lys)
NM_000232.4(SGCB):c.23_24insGGCGGC (p.Ala9_Glu10insAlaAla)
NM_000434.3(NEU1):c.1230_1234delTGTCTinsGCCAAA (p.Ser410Argfs)
NM_000232.4(SGCB):c.199_210delTGTGTGATTATC (p.Cys67_Ile70del)
NM_000337.5(SGCD):c.65dupT (p.Tyr23Ilefs)
NM_001010892.2(RSPH4A):c.111_125delTGAGTCGTCTGAGCC (p.Glu38_Pro42del)
NM_001848.2(COL6A1):c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs)
NM_207346.2(TSEN54):c.8_9insGGATCC (p.Pro3_Glu4insAspPro)
NM_016569.3(TBX3):c.610_611insCCAAAGTCGTCACTT (p.Thr203_Phe204insSerLysValValThr)
NM_007129.3(ZIC2):c.1392_1406delTGCGGCGGCGGCGGC (p.Ala466_Ala470del)
NM_000214.2(JAG1):c.1056_1057insACAACAGAGGCAGCTGTAAG (p.Glu353Thrfs)
NM_001004334.3(GPR179):c.799_803delCAGGTinsTGATCTAC (p.Gln267_Leu602delinsTer)
NM_201647.2(STAMBP):c.106_108delTACinsAA (p.Tyr36Asnfs)
NM_000199.3(SGSH):c.1272_1282delCAAGGACCTCC (p.Tyr424Terfs)
NM_002465.3(MYBPC1):c.51_56delACCCCC (p.Pro18_Pro19del)
NM_000789.3(ACE):c.50_55dupCGCTGC (p.Leu18_Leu19insProLeu)
NM_000371.3(TTR):c.11_13dupATC (p.His4_Arg5insHis)
NM_001289936.1(ERBB2):c.2287_2288insGGCTCCCCA (p.Gly763_Ser764insLeuProSer)
NM_006206.4(PDGFRA):c.2524_2535delGACATCATGCAT (p.Ile843_Asp846del)
NM_006206.4(PDGFRA):c.2527_2538delATCATGCATGAT (p.Ile843_Asp846del)
NM_000038.5(APC):c.3928_3938delAAGATTGGAAC (p.Lys1310Terfs)
NM_031844.2(HNRNPU):c.628dupG (p.Ala210Glyfs)
NM_020732.3(ARID1B):c.349_363delCAGCAGCAGCAGCAA (p.Gln127_Gln131del)
NM_012330.3(KAT6B):c.4077_4078insGAAGAGGAA (p.Glu1368_Gly1369insGluGluGlu)
NM_017721.4(CC2D1A):c.16_24delGGACCCCCG (p.Pro10_Gly12del)
NM_001127221.1(CACNA1A):c.2340_2341insCAAGTCCGTGTGGGAGCAGCGGACCAGT (p.Glu781Glnfs)
NM_006059.3(LAMC3):c.38_39insGGCACCGCG (p.Ala17_Ala18insProArgAla)
NM_004260.3(RECQL4):c.2574_2575insTGCACC (p.Thr858_Arg859insCysThr)
NM_199074.1(NDUFAF3):c.17dupA (p.Tyr6Terfs)
NM_012102.3(RERE):c.50_51insGGACCG (p.Arg21_Glu22insAspArg)
NM_012203.1(GRHPR):c.103delG (p.Asp35Thrfs)
STAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTION
NM_004211.4(SLC6A5):c.1294delGinsTT (p.Val432Phefs)
NM_139025.4(ADAMTS13):c.2930_2935delGTGCCC (p.Cys977_Arg979delinsTrp)
NM_005682.6(ADGRG1):c.739_745delCAGGACC (p.Gln247Cysfs)
NM_021999.4(ITM2B):c.786_795dupTTTAATTTGT (p.Ser266Phefs)
NM_004260.3(RECQL4):c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro)
NM_003680.3(YARS):c.458_469delTAAAGCAGGTGG (p.Val153_Val156del)
NM_004700.3(KCNQ4):c.211_223delCAGCGCTCCTCGG (p.Gln71Profs)
NM_002335.3(LRP5):c.803_812delGGGGGAAGAG (p.Gly269Argfs)
NM_003839.3(TNFRSF11A):c.46_63dup18 (p.Leu21_Ala22insLeuLeuCysAlaLeuLeu)
NM_003839.3(TNFRSF11A):c.39_65dup27 (p.Ala22_Arg23insLeuLeuLeuLeuCysAlaLeuLeuAla)
NM_003060.3(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219Metfs)
NM_001203.2(BMPR1B):c.361_368delGGACCTAT (p.Gly121Thrfs)
NM_003494.3(DYSF):c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs)
FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284AC
NM_144773.3(PROKR2):c.58delC (p.His20Metfs)
NM_153281.1(HYAL1):c.751_787del37insTTCCGTGTGGCCCG (p.Val251Phefs)
NM_016169.3(SUFU):c.71delC (p.Pro24Argfs)
NM_000016.5(ACADM):c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs)
NM_024757.4(EHMT1):c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs)
NM_000250.1(MPO):c.1555_1568delATGGAACCCAACCC (p.Met519Profs)
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs)
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
NM_000062.2(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp)
NM_170726.2(ALDH4A1):c.21delG (p.Leu8Serfs)
NM_022081.5(HPS4):c.949_972dup24 (p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu)
GP1BA, 92-BP DUP, SER399-THR411 DUP, VARIABLE REPEATS
NM_014239.3(EIF2B2):c.607_612delATGGCTinsTG (p.Met203Trpfs)
NM_015629.3(PRPF31):c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs)
NM_053054.3(CATSPER1):c.539dupT (p.His182Profs)
NM_053054.3(CATSPER1):c.944_948dupATGGC (p.Asp317Metfs)
NM_020451.2(SELENON):c.713dupA (p.Asn238Lysfs)
NM_032667.6(BSCL2):c.192_193delCCinsGGA (p.Ser64Argfs)
NM_020427.2(SLURP1):c.82delT (p.Cys28Alafs)
SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67
SLC35A1, 2-BP DEL, 277G AND 281C, AND 147T-C
NM_007254.3(PNKP):c.1253_1269dupGGGTCGCCATCGACAAC (p.Thr424Glyfs)
NM_023067.3(FOXL2):c.672_701dup30 (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_023067.3(FOXL2):c.912_919dupACCGCCGC (p.Pro307Hisfs)
NM_023067.3(FOXL2):c.178_192dupGTGGCGCTCATCGCC (p.Ala64_Met65insValAlaLeuIleAla)
NM_023067.3(FOXL2):c.684_698[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_022726.3(ELOVL4):c.789_793delTAACTinsAAC (p.Asn264Thrfs)
NM_021926.3(ALX4):c.385_394delTGCAAGACGC (p.Cys129Profs)
NM_020661.3(AICDA):c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe)
NM_005763.3(AASS):c.1601_1609delGTAAACAAG (p.Cys534_Ala871delinsTer)
NM_003764.3(STX11):c.369_376delAGTGGCGCinsTGG (p.Val124Glyfs)
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del)
MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr)
NM_000168.5(GLI3):c.2188_2206delCTTCCTCTGACCGATGGAG (p.Leu730Valfs)
NM_000222.2(KIT):c.1652_1666delCCATGTATGAAGTAC (p.Pro551_Val555del)
NM_001005862.2(ERBB2):c.2223_2234dupATACGTGATGGC (p.Ala745_Gly746insTyrValMetAla)
NM_004448.3(ERBB2):c.2328_2336dupTGTGGGCTC (p.Ser779_Pro780insValGlySer)
NM_020630.4(RET):c.1586_1594dupAGGAGTGTG (p.Cys531_Gly532insGluGluCys)
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg)
NM_002473.5(MYH9):c.3195_3215dup21 (p.Leu1074_Lys1075insGlnAlaGlnIleAlaGluLeu)
NM_001754.4(RUNX1):c.442_449delACCGCAGC (p.Thr148Hisfs)
NM_000422.2(KRT17):c.281_295delGCCTGGCCTCCTACC (p.Arg94_Tyr98del)
KRT16, 23-BP DEL, NT1244 AND 1-BP DEL, 1270G
IGF1, MUTATION IN POLYADENYLATION SIGNAL, T-A
NM_000523.3(HOXD13):c.169_171GCG(15_22) (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_000523.3(HOXD13):c.323_336delCAGCACCCACGCCT (p.Pro108Argfs)
NM_000523.3(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla)
NM_000185.3(SERPIND1):c.321dupT (p.Val108Cysfs)
NM_000518.4(HBB):c.274_288delCTGCACTGTGACAAG (p.Cys94_His98del)
NM_000518.4(HBB):c.130_138delGAGTCCTTT (p.Glu44_Phe46del)
NM_000518.4(HBB):c.223_228delGGCCTG (p.Gly75_Leu76delGlyLeu)
NM_000518.4(HBB):c.169_180delGGCAACCCTAAG (p.Gly57_Lys60del)
NM_000518.4(HBB):c.114_120delGACCCAG (p.Trp38Terfs)
NM_000518.4(HBB):c.425_433delTGGCCCACA (p.Leu142_Lys145delinsGln)
NM_000518.4(HBB):c.293_295delACG (p.His98_Val99delinsLeu)
NM_000518.4(HBB):c.217_221delAGTGAinsT (p.Ser73Leufs)
NM_000518.4(HBB):c.385_388delGCTGinsCCACA (p.Ala129Profs)
NM_000517.4(HBA2):c.118_124delACCAAGAinsTACTTC (p.Thr40Tyrfs)
HBA2, METHYLATION SILENCING DUE TO ANTISENSE TRANSCRIPT
GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE
NM_004285.3(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621Thrfs)
NM_005228.4(EGFR):c.2239_2251delTTAAGAGAAGCAAinsC (p.Leu747_Thr751delinsPro)
NM_000797.3(DRD4):c.235_247delGCCGACCTCCTCC (p.Ala79Serfs)
NM_000941.2(POR):c.568_580dupTACGTGGACAAGC (p.Arg194Leufs)
NM_002272.3(KRT4):c.419_420insCAA (p.Gln140delinsHisLys)
NM_003482.3(KMT2D):c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs)
NM_003482.3(KMT2D):c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs)
NM_003494.3(DYSF):c.730_740delACCGCTGCAGGinsGCCCT (p.Thr244_Gly247delinsAlaLeu)
NM_004004.5(GJB2):c.77_106dup30 (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle)
NM_004006.2(DMD):c.2614_2615insGGTGGCTCAC (p.Ile872Argfs)
NM_004006.2(DMD):c.3779_3785delCTTTGGAinsGG (p.Thr1260Argfs)
NM_004006.2(DMD):c.4996_5004delCGAGCAGAAinsT (p.Arg1666Terfs)
NM_004380.2(CREBBP):c.910delG (p.Val304Serfs)
NM_001271208.1(NEB):c.169_183delCTGGCACAGCCAGCA (p.Leu57_Ala61del)
NM_005120.2(MED12):c.6348_6359dupCCAGCAGCAACA (p.Gln2119_Gln2120insHisGlnGlnGln)
NM_005881.3(BCKDK):c.1149_1163delTCTGCAGCTGCAGTC (p.Leu386_Gln390del)
NM_012213.2(MLYCD):c.679_680insTGAAGC (p.Lys228_Arg229insLeuLys)
NM_014795.3(ZEB2):c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs)
NM_015884.3(MBTPS2):c.23_34delTGGTGGTGGTGG (p.Val8_Val11del)
NM_020717.3(SHROOM4):c.3372_3383dupACAGCAGCAGCA (p.Gln1128_Lys1129insGlnGlnGlnGln)
NM_130838.1(UBE3A):c.1547_1548delGGinsTGCTAGACAA (p.Arg516Leufs)
NM_138694.3(PKHD1):c.4415delGinsTATTCCCC (p.Cys1472Leufs)
NM_139058.2(ARX):c.441_464dup24 (p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAla)
NM_139058.2(ARX):c.453_458dupGGCCGC (p.Ala155_Trp156insAlaAla)
NM_144997.5(FLCN):c.319_320delGTinsCAC (p.Val107Hisfs)
NM_144997.5(FLCN):c.83dupC (p.Leu29Thrfs)
NM_000056.4(BCKDHB):c.33_34delAC (p.Leu12Glnfs)
NM_000056.4(BCKDHB):c.884delT (p.Gly296Glufs)
NM_000056.4(BCKDHB):c.93_103delGGCGCGGGGCT (p.Ala32Phefs)
NM_198270.3(NHS):c.302_337dup36 (p.Ala112_Ala113insGluAlaAlaProAlaAlaGlyGluAlaSerSerAla)
NM_203473.2(PORCN):c.250delC (p.Leu84Serfs)
NM_207346.2(TSEN54):c.3_8dupGGAGCC (p.Pro7_Ala8insGluPro)
NM_001193341.1(RSPH9):c.876_877delTGinsAT (p.His292_Ala293delinsGlnSer)
NM_032119.3(ADGRV1):c.17303_17315delGAGATTACATTCG (p.Gly5768Glufs)
NM_004100.4(EYA4):c.902_907dupATGGCA (p.Gly302_Thr303insAsnGly)
NM_004415.3(DSP):c.491_492delCCinsAGCTCGAGTCCCTCG (p.Ala164Glufs)
NM_004281.3(BAG3):c.100_107delACCGGCTG (p.Thr34Alafs)
NM_000256.3(MYBPC3):c.3600_3609delCTGCTGTGCT (p.Cys1201Serfs)
NM_000256.3(MYBPC3):c.239delCinsGAGG (p.Ala80delinsGlyGly)
NM_005343.3(HRAS):c.35_36delGCinsAA (p.Gly12Glu)
NM_004612.3(TGFBR1):c.70_78delGCGGCGGCG (p.Ala24_Ala26del)
NM_000256.3(MYBPC3):c.3089_3101delTGTTCATCCGGGC (p.Leu1030Profs)
NM_000257.3(MYH7):c.5067_5079delTGCCGTGGTGGAGinsGGCCGTGGAAGAA (p.Val1692Glu)
NM_000432.3(MYL2):c.45_46delCAinsT (p.Asn16Thrfs)
NM_024022.2(TMPRSS3):c.208delC (p.His70Thrfs)
NM_001005862.2(ERBB2):c.2234_2235insCTCCGTGATGGC (p.Ala745_Gly746insSerValMetAla)
NM_001943.4(DSG2):c.3281_3283delGTCinsTTA (p.Gly1094_His1095delinsValAsn)
NM_001005862.2(ERBB2):c.2235_2236insTCCGTGATGGCT (p.Ala745_Gly746insSerValMetAla)
NM_004316.3(ASCL1):c.172_186dupCAGCAGCAGCAGCAG (p.Gln62_Ala63insGlnGlnGlnGlnGln)
NM_004316.3(ASCL1):c.178_186dupCAGCAGCAG (p.Gln62_Ala63insGlnGlnGln)
NM_147196.2(TMIE):c.367_393del27insAAGAAGAAGAAGAAGAAGAAGAAGAAG (p.Lys123_Lys131=)
NM_000487.5(ARSA):c.369_374delCGGCAAinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly)
NM_000709.3(BCKDHA):c.117dupC (p.Arg40Glnfs)
NM_000070.2(CAPN3):c.598_612delTTCTGGAGTGCTCTG (p.Phe200_Leu204del)
NM_000071.2(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Glu283Lysfs)
NM_005249.4(FOXG1):c.648_655delTTACTACC (p.Tyr217Argfs)
NM_000466.2(PEX1):c.3505_3517delCAGTTGTTTTCAC (p.Gln1169Serfs)
NM_005592.3(MUSK):c.40dupA (p.Thr14Asnfs)
NM_015141.3(GPD1L):c.8delC (p.Ala3Glyfs)
NM_201593.2(CACNB2):c.17delT (p.Met6Serfs)
NM_000326.4(RLBP1):c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del)
NM_004744.4(LRAT):c.233_242delTGTTGGCCCT (p.Leu78Argfs)
NM_178454.4(DRAM2):c.217_225delGTTCGTTAT (p.Val73_Tyr75del)
NM_004992.3(MECP2):c.1163_1283del121insAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro388Glnfs)
NM_005859.4(PURA):c.4_8delGCGGA (p.Ala2Profs)
NM_000076.2(CDKN1C):c.644_649dupCCCCGG (p.Pro216_Asp217insAlaPro)
NM_000076.2(CDKN1C):c.641_644delCGGCinsGGG (p.Pro214Argfs)
NM_000076.2(CDKN1C):c.631delGinsAA (p.Ala211Asnfs)
NM_000076.2(CDKN1C):c.629_630insGCTCCGGCCCC (p.Ala211Leufs)
NM_000682.6(ADRA2B):c.675_686delTGGTGGGGCTTTinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg)
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION
SOX9, 148-KB DUP, UPSTREAM REGULATORY REGION
SOX9, 240-KB DEL, UPSTREAM REGULATORY REGION
SOX9, 577-KB DEL, UPSTREAM REGULATORY REGION
SOX9, 136-KB DEL, UPSTREAM REGULATORY REGION
NM_000487.5(ARSA):c.1408_1418delGCAGCTGTGAC (p.Ala470Leufs)
NM_000076.2(CDKN1C):c.512_523delCTCCGGTCGCGG (p.Ala171_Ala174del)
NM_000232.4(SGCB):c.21_23dupGGC (p.Ala9_Glu10insAla)
NM_000232.4(SGCB):c.32dupA (p.Gln12Alafs)
NM_000321.2(RB1):c.45_53delTGCCGCCGC (p.Ala16_Ala18del)
NM_000543.4(SMPD1):c.107_118delTGCTGGCGCTGG (p.Val36_Leu39del)
NM_000883.3(IMPDH1):c.66_72dupAGCCCGG (p.Gln25Serfs)
NM_001110792.1(MECP2):c.15_23delCGCCGCCGC (p.Ala6_Ala8del)
NM_001014797.2(KCNMA1):c.162_173delCTCTTCCTCCTC (p.Ser57_Ser60del)
NM_003030.4(SHOX2):c.232_233insGAGGAGGTG (p.Gly77_Val78insGlyGlyGly)
NM_004006.2(DMD):c.14_15delAAinsT (p.Glu5Valfs)
NM_004316.3(ASCL1):c.172_186delCAGCAGCAGCAGCAG (p.Gln58_Gln62del)
NM_005572.3(LMNA):c.48delC (p.Ser17Alafs)
NM_005634.2(SOX3):c.732delAinsCGCC (p.Ala248_Ser249insAla)
NM_015120.4(ALMS1):c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu)
NM_020451.2(SELENON):c.13_22dupCGGCCGGGCC (p.Gln8Profs)
NM_021072.3(HCN1):c.223_224insGCGGCGGCG (p.Gly74_Glu75insGlyGlyGly)
NM_144599.4(NIPA1):c.42_47dupGGCGGC (p.Ala16_Gly17insAlaAla)
NM_000280.4(PAX6):c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs)
NM_003482.3(KMT2D):c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs)
NM_007294.3(BRCA1):c.3747_3748insCAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACC (p.Glu1250Glnfs)
NM_000521.3(HEXB):c.1517_1529dupCAAGTGCTGTTGG (p.Glu511Lysfs)
NM_000521.3(HEXB):c.1616_1617insTTCATGTTATCTACAGAC (p.Arg539_Gly540insSerCysTyrLeuGlnThr)
NM_014615.3(GSE1):c.1131_1132insGAGAAGGAGCGCGAGCGC (p.Glu384_Leu385insLysGluArgGluArgGlu)
NM_023035.2(CACNA1A):c.6982_6983insCAG (p.Gln2328delinsProGlu)
NM_022117.3(TSPYL2):c.78_79insCCG (p.Pro33_Leu34insPro)
NM_024529.4(CDC73):c.8_10delACGinsCT (p.Asp3Alafs)
NM_000218.2(KCNQ1):c.524_534dupTCTGGTCCGCC (p.Gly179Serfs)
NM_014264.4(PLK4):c.201_213delGAAACATCCTTCT (p.Lys68Serfs)
NM_138348.5(OTULIN):c.517delC (p.Gly174Aspfs)
NM_198833.1(SERPINB8):c.947delA (p.Lys316Serfs)
NM_198897.1(FIBP):c.175_176insTAA (p.His59delinsLeuAsn)
NM_000059.3(BRCA2):c.1187_1200delCTCAACTAACCCTT (p.Ser396Phefs)
NM_000059.3(BRCA2):c.3639_3652delAGTGGGGTTTAGGG (p.Val1214Leufs)
NM_000059.3(BRCA2):c.4965delCinsGA (p.Tyr1655Terfs)
NM_000059.3(BRCA2):c.8378delGinsAA (p.Gly2793Glufs)
NM_007294.3(BRCA1):c.2242_2251delAAAGATCTCA (p.Lys748Cysfs)
NM_000642.2(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG (p.Arg322Serfs)
NM_000384.2(APOB):c.35_43delTGGCGCTGC (p.Leu12_Leu14del)
NM_015120.4(ALMS1):c.60_74dupGGAGGAGGAGGAGGA (p.Glu29_Ala30insGluGluGluGluGlu)
NM_000642.2(AGL):c.1996_1999delCATCinsT (p.His666_Tyr1001delinsTer)
NM_000784.3(CYP27A1):c.11_20dupTGGGCTGCGC (p.Arg8Glyfs)
NM_000551.3(VHL):c.164_171dupAGGCCGGG (p.Arg60Glyfs)
NM_016955.3(SEPSECS):c.808dupG (p.Ala270Glyfs)
NM_133433.3(NIPBL):c.1942_1954delACAGAAGAACTTAinsCTT (p.Thr648Leufs)
NM_133433.3(NIPBL):c.40dupG (p.Ala14Glyfs)
NM_020732.3(ARID1B):c.6120_6130delCACGGAAAGCAinsGACTTG (p.Tyr2040Terfs)
NM_003165.3(STXBP1):c.634delTinsCAACAATGATG (p.Tyr212Glnfs)
NM_016035.4(COQ4):c.23_33delTCCTCCGTCGG (p.Val8Alafs)
NM_000083.2(CLCN1):c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs)
NM_138701.3(MPLKIP):c.173dupC (p.Arg59Terfs)
NM_194456.1(KRIT1):c.1192_1204delGAAAACAAACAAA (p.Glu398Thrfs)
NM_007175.6(ERLIN2):c.17delC (p.Ala6Glufs)
NM_004523.3(KIF11):c.24_26delTGCinsAG (p.Ala9Glyfs)
NM_002140.4(HNRNPK):c.779dupG (p.Asp262Terfs)
NM_000368.4(TSC1):c.850_881del32insGCTTTCCTCATCGTT (p.Arg284Alafs)
NM_000448.2(RAG1):c.746delGinsAA (p.Arg249Glnfs)
NM_024757.4(EHMT1):c.2431_2435delATGGAinsTGGG (p.Met811Trpfs)
NM_024757.4(EHMT1):c.3342delCinsAAG (p.Asn1114Lysfs)
NM_003482.3(KMT2D):c.15708_15717delCGGGCGGCCGinsTA (p.Gly5237Argfs)
NM_015665.5(AAAS):c.310_317delTTTGAGTG (p.Phe104Glyfs)
NM_005055.4(RAPSN):c.853_855delCAGinsTAA (p.Gln285Ter)
NM_005343.3(HRAS):c.35_36delGCinsTA (p.Gly12Val)
NM_003002.3(SDHD):c.53dupC (p.Leu19Serfs)
NM_145239.2(PRRT2):c.769_778delGAGGGGGGTG (p.Glu257Lysfs)
NM_004643.3(PABPN1):c.15_23dupGGCGGCGGC (p.Ala11_Gly12insAlaAlaAla)
NM_004643.3(PABPN1):c.18_23dupGGCGGC (p.Ala11_Gly12insAlaAla)
NM_130838.1(UBE3A):c.1184_1193dupGAAACAAGAA (p.Gly399Lysfs)
NM_018451.4(CENPJ):c.289dupA (p.Thr97Asnfs)
NM_033517.1(SHANK3):c.3764_3776delGGGCCCAGCCCCC (p.Arg1255Leufs)
NM_000088.3(COL1A1):c.197_199delGCAinsTGTTGCC (p.Gly66Valfs)
NM_004006.2(DMD):c.10594_10595delGAinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG (p.Glu3532Phefs)
NM_000383.3(AIRE):c.199_202delCTGAinsTGG (p.Leu67Trpfs)
NM_013275.5(ANKRD11):c.2719_2730delAAGAAGGACAGGinsT (p.Lys907Terfs)
NM_005183.3(CACNA1F):c.276delG (p.Lys92Asnfs)
NM_001456.3(FLNA):c.5906_5918delAGACGGATCTCAG (p.Glu1969Alafs)
NM_000397.3(CYBB):c.23_26dupAGGG (p.Leu10Glyfs)
NM_005629.3(SLC6A8):c.1422_1434delCTACTACTCGGCCinsTTGACTACTACTACAG (p.Tyr475_Met635del)
NM_000292.2(PHKA2):c.2782_2783delCTinsATGGCACGGAGCC (p.Leu928Metfs)
NM_013382.5(POMT2):c.1045_1052delCGGATGGCinsG (p.Arg349Alafs)
NM_001271208.1(NEB):c.167_168insTCTGGCACAGCCAGC (p.Ala61_Ser62insLeuAlaGlnProAla)
NM_024570.3(RNASEH2B):c.925dupA (p.Ile309Asnfs)
NM_138735.4(NRXN1):c.71_79delGCGGCGGCG (p.Gly24_Gly26del)
NM_006517.4(SLC16A2):c.125_130dupAGCCCG (p.Pro43_Val44insGluPro)
NM_000540.2(RYR1):c.12315_12328delAGAAATCCAGTTCC (p.Glu4106Alafs)
NM_004380.2(CREBBP):c.6612_6623delGCAGCAGCAACA (p.Gln2213_Gln2216del)
NM_033056.3(PCDH15):c.4328_4329insGCCTCCGCC (p.Pro1443_Gly1444insProProPro)
NM_004380.2(CREBBP):c.6666_6677delTGGGGGCATGGC (p.Gly2224_Gly2227del)
NM_020247.4(COQ8A):c.638_645delGGCTGGCC (p.Arg213Glnfs)
NM_002180.2(IGHMBP2):c.2197_2203delATAGTGGinsCA (p.Ile733Glnfs)
NM_000350.2(ABCA4):c.850_857delATTCAAGA (p.Ile284Valfs)
NM_006031.5(PCNT):c.481_519dup39 (p.Thr173_Ile174insValSerAspHisProProGluGlnArgGlyMetPheThr)
NM_000104.3(CYP1B1):c.1064_1076delGAGTGCAGGCAGA (p.Arg355Hisfs)
NM_004560.3(ROR2):c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs)
NM_001235.3(SERPINH1):c.961delC (p.Leu321Trpfs)
NM_002968.2(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
NM_000232.4(SGCB):c.1_2delAT (p.Met1Glyfs)
NM_001135659.2(NRXN1):c.609_610delGCinsCA (p.Lys203_Leu204delinsAsnMet)
NM_000231.2(SGCG):c.452_458delTTACTGT (p.Phe151Terfs)
NM_174936.3(PCSK9):c.1303_1304delGTinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu)
NM_018100.3(EFHC1):c.666_671delGTATGT (p.Lys222_Val224delinsAsn)
NM_000423.2(KRT2):c.301delAinsGGCTTTGGAGGCGGCAGCG (p.Ser101delinsGlyPheGlyGlyGlySerGly)
NM_152296.4(ATP1A3):c.2512_2516delAGACTinsTC (p.Arg838_Leu839delinsSer)
NM_018486.2(HDAC8):c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer)
NM_023067.3(FOXL2):c.951_961dupGCCGCCGGGCC (p.Gln321Argfs)
NM_023067.3(FOXL2):c.674_703dup30 (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_023067.3(FOXL2):c.663_692dup30 (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_023067.3(FOXL2):c.184_198dupCTCATCGCCATGGCG (p.Ala66_Ile67insLeuIleAlaMetAla)
NM_000152.4(GAA):c.2704_2716dupCAGAAGGTGACTG (p.Val906Alafs)
NM_032146.5(ARL6):c.351_353delTATinsGAAAA (p.Asp117Glufs)
NM_000295.4(SERPINA1):c.288_291delTCAC (p.His97Metfs)
NM_000396.3(CTSK):c.48delG (p.Tyr17Thrfs)
NM_000478.5(ALPL):c.46_49delAACT (p.Asn16Profs)
NM_000310.3(PPT1):c.48_54delATGGACC (p.Trp17Alafs)
NM_001128425.1(MUTYH):c.526_535delGGCCTGGGCT (p.Gly176Thrfs)
NM_001243766.1(POMGNT1):c.60_63delCTGGinsGTGA (p.Ser20_Trp21delinsArgTer)
NM_000098.2(CPT2):c.1345delCinsTA (p.Gln449Terfs)
NM_000016.5(ACADM):c.224delT (p.Val75Alafs)
NM_000110.3(DPYD):c.2335_2338delACCTinsGC (p.Thr779Alafs)
NM_000187.3(HGD):c.31_32delGGinsATT (p.Gly11Ilefs)
NM_000232.4(SGCB):c.29_33delAACAG (p.Glu10Alafs)
NM_000288.3(PEX7):c.13_19dupTGCGGTG (p.Gly7Valfs)
NM_000288.3(PEX7):c.774_784delGGCCTCTTGCT (p.Ala259Valfs)
NM_138694.3(PKHD1):c.4_7delACTG (p.Thr2Profs)
NM_183050.3(BCKDHB):c.18_27delGGCTGCCGGC (p.Ala7Glyfs)
NM_183050.3(BCKDHB):c.79_89delCCTGGCGCGGG (p.Pro27Alafs)
NM_183050.3(BCKDHB):c.97delC (p.Arg33Glyfs)
NM_183050.3(BCKDHB):c.139_149delCAGAGGCGGCA (p.Gln47Glyfs)
NM_183050.3(BCKDHB):c.730delT (p.Tyr244Thrfs)
NM_183050.3(BCKDHB):c.853delC (p.Arg285Glufs)
NM_017890.4(VPS13B):c.2816delAinsCC (p.His939Profs)
NM_012203.1(GRHPR):c.154delG (p.Ala52Profs)
NM_012203.1(GRHPR):c.228dupA (p.Val77Serfs)
NM_000136.2(FANCC):c.117delT (p.Gln40Serfs)
NM_000051.3(ATM):c.4019_4029delTACCAGAGATT (p.Leu1340Cysfs)
NM_000051.3(ATM):c.8814_8824delGAGAAACTCTC (p.Met2938Ilefs)
NM_005609.3(PYGM):c.2231_2244delAGCAGCTGAGCAGT (p.Glu744Glyfs)
NM_005609.3(PYGM):c.1527_1530delGGAGinsTGA (p.Asp511Thrfs)
NM_005609.3(PYGM):c.251_261delACTACCTGTCT (p.Tyr84Phefs)
NM_000017.3(ACADS):c.32delG (p.Gly11Alafs)
NM_000017.3(ACADS):c.125_135delTCCAGACATGC (p.Leu42Profs)
NM_024685.3(BBS10):c.1236_1248delTGCTTTACATGGA (p.Asp412Glufs)
NM_014363.5(SACS):c.9818_9831delATACTCTAAAAGAC (p.Asp3273Valfs)
NM_014363.5(SACS):c.7494_7504delAGTCCCAAAGC (p.Val2499Thrfs)
NM_014363.5(SACS):c.29delC (p.Pro10Argfs)
NM_006493.2(CLN5):c.302_314delACTGGCCGGTGCC (p.His101Profs)
NM_000295.4(SERPINA1):c.714delC (p.Thr239Profs)
NM_000520.5(HEXA):c.183_193delCGACGAGGCCT (p.Asp62Profs)
NM_000057.3(BLM):c.1722_1725delAGCAinsGGC (p.Ala576Profs)
NM_000057.3(BLM):c.1764_1777delGGAAGGTCGGCCAA (p.Lys588Asnfs)
NM_000018.3(ACADVL):c.891delG (p.Lys298Argfs)
NM_000018.3(ACADVL):c.996delT (p.Ala333Profs)
NM_000018.3(ACADVL):c.996dupT (p.Ala333Cysfs)
NM_000152.4(GAA):c.236_246delCCACACAGTGC (p.Pro79Argfs)
NM_000152.4(GAA):c.2281delGinsAT (p.Ala761Ilefs)
NM_000227.4(LAMA3):c.1881_1884delGCTAinsCCT (p.Lys627Asnfs)
NM_000159.3(GCDH):c.79delG (p.Ala27Argfs)
NM_020533.2(MCOLN1):c.54dupC (p.Asn19Glnfs)
NM_000071.2(CBS):c.707_708delCCinsGGTG (p.Thr236Argfs)
NM_000487.5(ARSA):c.495_501delGCCGGCC (p.Pro166Leufs)
NM_000551.3(VHL):c.83_100dup18 (p.Ser33_Gly34insAspGlyGlyGluGluSer)
NM_000249.3(MLH1):c.209_221delAAGAAGATCTGGA (p.Lys70Ilefs)
NM_001012763.1(GNRHR):c.30_31delTCinsAA (p.Asn10_Gln11delinsLysLys)
NM_000740.3(CHRM3):c.1173_1184delGCCTGAGGAGGAinsT (p.Pro392Alafs)
NM_001885.2(CRYAB):c.60delC (p.Ser21Alafs)
NM_001130823.2(DNMT1):c.1518_1520delTCCinsATA (p.Asp506_Pro507delinsGluTyr)
NM_001145661.1(GATA2):c.243delAinsGC (p.Gly82Argfs)
NM_003413.3(ZIC3):c.165_166insGCCGCC (p.Ala55_Phe56insAlaAla)
NM_139058.2(ARX):c.435_461dup27 (p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_201378.3(PLEC):c.1_9delATGGCCGGC (p.Met1_Gly3del)
NM_013416.3(NCF4):c.143_152delAAGGAGGATC (p.Lys48Thrfs)
NM_005857.4(ZMPSTE24):c.54dupT (p.Ile19Tyrfs)
NM_014679.4(CEP57):c.915_925dupCAATGTTCAGC (p.Leu309Profs)
SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION
NM_207346.2(TSEN54):c.1172_1185delAGAGGAGCCAGCGC (p.Gln391Profs)
NM_020732.3(ARID1B):c.6463_6473delAGCATTGGAAA (p.Ser2155Leufs)
NM_020732.3(ARID1B):c.4619_4628delACCAGACGCC (p.Gln1541Argfs)
NM_002834.4(PTPN11):c.458_468delCTGGTGATGACinsAAGAACACAGGGGAGAGCAATGAC (p.Thr153Lysfs)
NM_016042.3(EXOSC3):c.294_303delTGTTTACTGG (p.Val99Trpfs)
NM_000942.4(PPIB):c.414_423delGAGCATGGCC (p.Ser139Thrfs)
NM_002111.6(HTT):c.52CAG(27_35) (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_000144.4(FXN):c.371_376delATGTCTinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)
NM_000397.3(CYBB):c.15delT (p.Val6Terfs)
NM_000138.4(FBN1):c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla)
NM_000162.3(GCK):c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet)
NM_000162.3(GCK):c.1279_1358del80insTTACA (p.Val427_Ser453delinsLeuGln)
NM_000518.4(HBB):c.19_20delGAinsAT (p.Glu7Met)
NM_000457.4(HNF4A):c.726_728delGCTinsTCAA (p.Leu243Glnfs)
NM_002185.3(IL7R):c.271_280dupATATATTTCA (p.Ile94Asnfs)
NM_000244.3(MEN1):c.659_667delTGGCTGAGCinsGCCCCT (p.Val220_Arg223delinsGlyProTrp)
NM_004629.1(FANCG):c.1794_1803delCTGGATCCGT (p.Trp599Profs)
NM_004629.1(FANCG):c.637_643delTACCGCC (p.Tyr213Lysfs)
NM_032119.3(ADGRV1):c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs)
NM_003002.3(SDHD):c.57delG (p.Leu20Cysfs)
NM_012233.2(RAB3GAP1):c.264_270delAAAGGATinsTTATTA (p.Lys89Tyrfs)
NM_033022.3(RPS24):c.4_6delAACinsTACGGATAG (p.Asn2_Lys130delinsTyrGly)
NM_000455.4(STK11):c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn)
NM_000288.3(PEX7):c.45_52dupGGGACGCC (p.His18Argfs)
NM_000314.6(PTEN):c.40dupA (p.Arg14Lysfs)
NM_000860.5(HPGD):c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs)
NM_002905.3(RDH5):c.928delCinsGAAG (p.Leu310delinsGluVal)
NM_003073.4(SMARCB1):c.203_216delATGGTAAAAAAACAinsTACC (p.His68Leufs)
NM_000332.3(ATXN1):c.589_591CAG(36_38) (p.Gln208_His209insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_006261.4(PROP1):c.112_124delTCGAGTGCTCCAC (p.Ser38Profs)
NM_004970.2(IGFALS):c.103delG (p.Glu35Lysfs)
NM_004970.2(IGFALS):c.583_591dupAGCCTGCGC (p.Arg197_Glu198insSerLeuArg)
NM_080916.2(DGUOK):c.255delA (p.Ala86Profs)
PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS
NM_000020.2(ACVRL1):c.143_147delGGGCCinsAGCCT (p.GlyAla48_49GluPro)
NM_201378.3(PLEC):c.2557_2570delGAGGCCGTCACCAG (p.Glu853Alafs)
NM_000156.5(GAMT):c.299_311dupGGGACTGGGCCCC (p.Arg105Glyfs)
GDF5, 3-BP DEL, 1309TTG, SER439THR, AND HIS440LEU
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys)
NM_000256.3(MYBPC3):c.3659_3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs)
NM_178138.5(LHX3):c.287_288delGCinsTCCT (p.Gly96Valfs)
NM_001024630.3(RUNX2):c.189_203delGCAGCAACAGCAGCAinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72Glnfs)
NM_001024630.3(RUNX2):c.223_252dup30 (p.Ala89_Val90insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_005502.3(ABCA1):c.1584_1597delTGAGAGGAAGTTCTinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Gly867delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer)
NM_138761.3(BAX):c.115_121delGGGGGGG (p.Gly39Argfs)
CHIT1, GLY354ARG, LEU385LEU, AND 4-BP DEL
NM_194442.2(LBR):c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter)
NM_000354.5(SERPINA7):c.555delT (p.Val186Trpfs)
NM_000354.5(SERPINA7):c.174delT (p.Val59Trpfs)
NM_000044.4(AR):c.2281_2287delAGGATGCinsTTCGCCCCTGA (p.Arg761Phefs)
NM_001034853.1(RPGR):c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer)
NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452Glufs)
NM_000206.2(IL2RG):c.703_711dupCAGCATTGG (p.Trp237_Ser238insGlnHisTrp)
NM_004004.5(GJB2):c.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs)
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)
NM_004364.4(CEBPA):c.115_121delCCCGCGC (p.Pro39Serfs)
NM_004364.4(CEBPA):c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln)
NM_004364.4(CEBPA):c.925_951dup27 (p.Leu317_Thr318insGluThrGlnGlnLysValLeuGluLeu)
NM_004364.4(CEBPA):c.68delC (p.Pro23Argfs)
NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs)
NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)
NM_000041.3(APOE):c.415_435dup21 (p.Gly145_Gln146insGluValGlnAlaMetLeuGly)
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5
NM_000416.2(IFNGR1):c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del)
NM_000484.3(APP):c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu)
NM_000683.3(ADRA2C):c.964_975delGGGGCGGGGCCG (p.Gly324_Ala327del)
NM_005199.4(CHRNG):c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro)
NM_000080.3(CHRNE):c.614_620delGGGCCAT (p.Trp205Serfs)
NM_002036.3(ACKR1):c.286_299delTGGCCTGTCCTGGC (p.Trp96Thrfs)
NM_024592.4(SRD5A3):c.286_288delCAAinsTGAGTAAGGC (p.Gln96Terfs)
NM_014495.3(ANGPTL3):c.50_51delCCinsGA (p.Ser17Ter)
NM_004750.4(CRLF1):c.857_864delTGGTGGAC (p.Val286Glyfs)
NM_001097642.2(GJB1):c.571_579dupACCGTCTTC (p.Phe193_Met194insThrValPhe)
NM_004364.4(CEBPA):c.141delC (p.Ala48Profs)
NM_004364.4(CEBPA):c.68dupC (p.His24Alafs)
NM_018136.4(ASPM):c.77delG (p.Gly26Alafs)
NM_170784.2(MKKS):c.431_441delTTAGTAGTACT (p.Phe144Serfs)
NM_024577.3(SH3TC2):c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73Profs)
NM_032520.4(GNPTG):c.379_391delGACGCCTGCCGTT (p.Asp127Profs)
NM_172107.3(KCNQ2):c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer)
NM_000495.4(COL4A5):c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs)
NM_000495.4(COL4A5):c.1757_1770delTTCCTGGCCCGAAA (p.Leu586Argfs)
NM_000495.4(COL4A5):c.4315_4350dup36 (p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyProProGly)
NM_005359.5(SMAD4):c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del)
NM_005359.5(SMAD4):c.1612_1625delGAAGTACTTCATAC (p.Glu538Hisfs)
NM_020630.4(RET):c.1892_1903dupACGAGCTGTGCC (p.Cys634_Arg635insHisGluLeuCys)
NM_020975.4(RET):c.1906delAinsGACCTGTGCCGCC (p.Thr636delinsAspLeuCysArgPro)
NM_020630.4(RET):c.1900_1908dupTGCCGCACG (p.Thr636_Val637insCysArgThr)
NM_020975.4(RET):c.1998delGinsTTCT (p.Lys666delinsAsnSer)
NM_000060.4(BTD):c.246_254delCTTGGAGCT (p.Leu83_Leu85del)
NM_000155.3(GALT):c.18delC (p.Asp7Ilefs)
NM_000155.3(GALT):c.41delCinsTT (p.Ala14Valfs)
NM_000155.3(GALT):c.207_214delCCCTCTCA (p.Asp69Glufs)
NM_000155.3(GALT):c.719_728delTAGTACTGGT (p.Leu240Serfs)
NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del)
NM_000155.3(GALT):c.790_792delCTAinsTAG (p.Leu264Ter)
NM_003060.3(SLC22A5):c.265_266insGGCTCGCCACC (p.Ile89Argfs)
NM_000249.3(MLH1):c.293_304delGCTTTCGAGGTG (p.Gly98_Gly101del)
NM_000249.3(MLH1):c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer)
NM_000251.2(MSH2):c.1319_1326delTTACTGATinsCC (p.Leu440_Asp442delinsPro)
NM_000251.2(MSH2):c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer)
NM_000251.2(MSH2):c.2056_2082del27insTATATGTTGTGCCATGTGAATATA (p.Val686_Phe694delinsTyrMetLeuCysHisValAsnIle)
NM_000251.2(MSH2):c.243_[binary] (p.Lys82_Glu425delinsTer)
NM_000251.2(MSH2):c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs)
NM_000251.2(MSH2):c.4_21dup18 (p.Glu7_Thr8insAlaValGlnProLysGlu)
NM_000251.2(MSH2):c.675_679delAGAAAinsTAAT (p.Glu226Asnfs)
NM_000251.2(MSH2):c.717_721delGGACCinsTTA (p.Gln239Hisfs)
NM_000251.2(MSH2):c.763_766delAGTGinsTT (p.Ser255Phefs)
NM_000251.2(MSH2):c.94_103delACCACAGTGC (p.Thr32Alafs)
NM_000535.6(PMS2):c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs)
NM_001204182.1(NEK2):c.617_624delTGTATGAGinsA (p.Leu206Hisfs)
NM_032580.3(HES7):c.385_394dupAAACCGCCCC (p.Arg132Glnfs)
NM_007294.3(BRCA1):c.241_251delCAACTTGTTGA (p.Gln81Argfs)
NM_014495.3(ANGPTL3):c.55delA (p.Ile19Leufs)
NM_005120.2(MED12):c.107_111delTGACGinsGC (p.Leu36_Thr37delinsArg)
NM_005120.2(MED12):c.118_132delAATGTAAAACAAGGT (p.Asn40_Gly44del)
NM_005120.2(MED12):c.126_131delACAAGG (p.Lys42_Gly44delinsAsn)
NM_005120.2(MED12):c.126_140delACAAGGTTTCAATAA (p.Lys42_Asn46del)
NM_005120.2(MED12):c.129_137delAGGTTTCAA (p.Gln43_Asn46delinsHis)
NM_005120.2(MED12):c.129_143delAGGTTTCAATAACCA (p.Gly44_Gln48del)
NM_005120.2(MED12):c.133_144delTTCAATAACCAG (p.Phe45_Gln48del)
NM_005120.2(MED12):c.149_163delCTGTCTCTGGGGATG (p.Ala50_Asp54del)
NM_000070.2(CAPN3):c.855_864dupGTTGATTGCA (p.Arg289Valfs)
NM_000117.2(EMD):c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del)
NM_000155.3(GALT):c.565_578delGTATGGGCCAGCAG (p.Val189Phefs)
NM_000183.2(HADHB):c.5_7dupCTA (p.Thr2_Ile3insThr)
NM_000199.3(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
NM_000203.4(IDUA):c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del)
NM_000252.2(MTM1):c.1537_1564del28insAACTGGA (p.Phe513_Leu522delinsAsnTrpIle)
NM_000321.2(RB1):c.2067_2079delGAATGAGTATGAAinsCAC (p.Gln689Hisfs)
NM_000404.3(GLB1):c.1456_1466dupGGTGCATATAT (p.Ile489Metfs)
NM_000425.4(L1CAM):c.23delT (p.Val8Glyfs)
NM_000466.2(PEX1):c.1952_1960dupCAGTGTGGA (p.Trp653_Met654insThrValTrp)
NM_000487.5(ARSA):c.34delG (p.Ala12Profs)
NM_000489.4(ATRX):c.463_474delGAAAATCTCAAAinsT (p.Glu155Terfs)
NM_000532.4(PCCB):c.386_387delTTinsAAC (p.Phe129Terfs)
NM_000540.2(RYR1):c.12861_12869dupCACGGCGGC (p.Ala4290_Ala4291insThrAlaAla)
NM_000543.4(SMPD1):c.842_849dupTCCCCGCA (p.His284Serfs)
NM_000543.4(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer)
NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168Leufs)
NM_000709.3(BCKDHA):c.117delC (p.Arg40Glyfs)
NM_000709.3(BCKDHA):c.14delT (p.Ile5Thrfs)
NM_000709.3(BCKDHA):c.741dupT (p.Ala248Cysfs)
NM_000709.3(BCKDHA):c.917delT (p.Val306Aspfs)
NM_000044.4(AR):c.172_174(38_?) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_021926.3(ALX4):c.976_985delGACCCGGTGCinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326Leufs)
NM_024735.4(FBXO31):c.847_852delTGCCTGinsA (p.Cys283Asnfs)
NM_003331.4(TYK2):c.2303_2311delCCAGGGAGG (p.Ser768_Pro1105delinsTer)
NM_130838.1(UBE3A):c.1814_1824delTACTGGATGTA (p.Ile605Thrfs)
NM_130838.1(UBE3A):c.2487_2507dup21 (p.Leu835_Lys836insAsnSerSerLysGluLysLeu)
NM_000639.2(FASLG):c.263delT (p.Phe88Serfs)
NM_032492.3(JAGN1):c.35_43delCCGACGGCA (p.Thr12_Gly14del)
NM_194248.2(OTOF):c.2034_2042dupTGCCGGGGA (p.Asp681_Leu682insAlaGlyAsp)
NM_032193.3(RNASEH2C):c.178dupG (p.Glu60Glyfs)
NM_000048.3(ASL):c.1045_1057delGTCATCTCTACGC (p.Val349Cysfs)
NM_052845.3(MMAB):c.563_577dupTGTGCCGCCGGGCCG (p.Ala192_Glu193insValCysArgArgAla)
NM_000017.3(ACADS):c.988_990delCGCinsTGT (p.Arg330Cys)
NM_000018.3(ACADVL):c.210dupT (p.Lys71Terfs)
NM_001014763.1(ETFB):c.13_18dupCTGTGG (p.Trp6_Val7insLeuTrp)
NM_015895.4(GMNN):c.35_38delTCAA (p.Ile12Lysfs)
NM_000030.2(AGXT):c.2_3delTGinsAT (p.Met1Asn)
NM_000030.2(AGXT):c.83delC (p.Pro28Leufs)
NM_000030.2(AGXT):c.221_227dupTCACACT (p.Val77Hisfs)
NM_000030.2(AGXT):c.299_307dupTCCTGGTTG (p.Val102_Gly103insValLeuVal)
NM_000030.2(AGXT):c.447_454delGCTGCTGT (p.Leu151Asnfs)
NM_000030.2(AGXT):c.519_520delCCinsGA (p.Cys173_His174delinsTrpAsn)
NM_000030.2(AGXT):c.557_562delCATCCCinsATCGGT (p.Ala186_Ser187delinsAspArg)
NM_000030.2(AGXT):c.798_802delCATCAinsACAATCTCAG (p.Ile267Glnfs)
NM_000030.2(AGXT):c.983_988delCTGGCT (p.Ala328_Tyr330delinsAsp)
NM_012203.1(GRHPR):c.45delA (p.Ala17Profs)
NM_001130144.2(LTBP3):c.2071_2084delTACCGGCTCAAAGC (p.Tyr691Leufs)
NM_002335.3(LRP5):c.52_60delCTGCTGCTG (p.Leu18_Leu20del)
NM_000748.2(CHRNB2):c.1171_1180delGTCAACCGCGinsCTGACCGACTCCTGCA (p.Val391_Ala394delinsLeuThrAspSerCysThr)
NM_006516.2(SLC2A1):c.828_841delGGTGCTGCAGCTGT (p.Val277Profs)
NM_006516.2(SLC2A1):c.207_216delGGCCATCTTTinsC (p.Ala70_Phe72del)
NM_001040142.1(SCN2A):c.4610_4614delTCATGinsGCATC (p.Ile1537_Met1538delinsSerIle)
NM_001182.4(ALDH7A1):c.31_33delCACinsGAG (p.His11Glu)
NM_002397.4(MEF2C):c.120_125dupCTGTGA (p.Cys41_Glu42insAspCys)
NM_005670.3(EPM2A):c.157_159delGCCinsACG (p.Ala53Thr)
NM_198586.2(NHLRC1):c.4_5delGCinsAA (p.Ala2Lys)
NM_153033.4(KCTD7):c.536_543delTCCAGCGG (p.Val179Glufs)
NM_004519.3(KCNQ3):c.63_71dupAGGCGGCGG (p.Gly24_Ala25insGlyGlyGly)
NM_001130438.2(SPTAN1):c.6910_6918dupCAGCTGGGC (p.Gly2306_Met2307insGlnLeuGly)
NM_153026.2(PRICKLE1):c.8delT (p.Leu3Trpfs)
NM_006493.2(CLN5):c.200_205dupGCGCGG (p.Ala68_Ala69insGlyAla)
NM_005249.4(FOXG1):c.153_161delCCACCACCA (p.His55_His57del)
NM_005249.4(FOXG1):c.225_226delGCinsACCG (p.Pro77Argfs)
NM_005249.4(FOXG1):c.327_332dupGCCACC (p.Pro112_Ala113insProPro)
NM_005249.4(FOXG1):c.386_397dupAGCCGGGCGGCG (p.Gly132_Gly133insGluProGlyGly)
NM_002693.2(POLG):c.155_166delAGCAACAGCAGC (p.Gln52_Gln55del)
NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln)
NM_002693.2(POLG):c.150_158delGCAGCAGCA (p.Gln53_Gln55del)
NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln)
NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del)
NM_002693.2(POLG):c.144_158delGCAGCAGCAGCAGCA (p.Gln51_Gln55del)
NM_000548.4(TSC2):c.3841_3853delTCCAGCTGCCAAG (p.Ser1281Aspfs)
NM_001199107.1(TBC1D24):c.691_700delGTCTTCCTGGinsCTT (p.Val231Leufs)
NM_000444.5(PHEX):c.67delC (p.Leu23Trpfs)
NM_020717.3(SHROOM4):c.3414delAinsGGAG (p.Glu1151_Ala1152insGlu)
NM_000414.3(HSD17B4):c.1696_1702delCCAGTATinsAA (p.Pro566Lysfs)
NM_000540.2(RYR1):c.13244_13264dup21 (p.Asp4421_Glu4422insAlaAlaGluGlyAlaGlyAsp)
NM_018849.2(ABCB4):c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer)
NM_170707.3(LMNA):c.65_66delCGinsT (p.Ser22Phefs)
NM_003106.3(SOX2):c.320_335del16insTATTTATAAT (p.Asp107_Pro112delinsValPheIleIle)
NM_138735.4(NRXN1):c.65_79delGCGGCGGCGGCGGCG (p.Gly22_Gly26del)
NM_014363.5(SACS):c.10461_10462delTCinsAA (p.Asn3487_Leu3488delinsLysIle)
NM_001130987.1(DYSF):c.6271_6282dupATCCTCTTCATC (p.Ile2094_Leu2095insIleLeuPheIle)
NM_053025.3(MYLK):c.3380_3382delCCAinsGCC (p.Ala1127_Thr1128delinsGlyPro)
NM_005562.2(LAMC2):c.1637_1651delCCGGCATCTACTGCG (p.Ala546_Cys550del)
NM_005183.3(CACNA1F):c.2474_2475insAGAGGAAGA (p.Glu825_Gly826insGluGluGlu)
NM_004380.2(CREBBP):c.2355_2366delCCAGGCGCCCGC (p.Ala787_Gln790del)
NM_000232.4(SGCB):c.14_15insAGCGGC (p.Ala9_Glu10insAlaAla)
NM_004817.3(TJP2):c.856_861dupAGCCGC (p.Arg287_Glu288insSerArg)
NM_024301.4(FKRP):c.962_970dupCGCTGCGCG (p.Arg323_Glu324insAlaLeuArg)
NM_001267550.2(TTN):c.63298_63299insATGGTGGTGCACCGATCATTGGATATG (p.Tyr21099_Val21100insAspGlyGlyAlaProIleIleGlyTyr)
NM_000426.3(LAMA2):c.1032_1042delCAATTGTCATG (p.Cys344Trpfs)