http://identifiers.org/clinvar/16154 ^@ NM_001018077.1(NR3C1):c.66G>A (p.Glu22=) http://identifiers.org/clinvar/16154 ^@ NM_001018077.1(NR3C1):c.68G>A (p.Arg23Lys) http://identifiers.org/clinvar/192374 ^@ NM_004990.3(MARS):c.1177G>A (p.Ala393Thr) http://identifiers.org/clinvar/192374 ^@ NM_004990.3(MARS):c.1700C>T (p.Ser567Leu) http://identifiers.org/clinvar/242871 ^@ NM_032357.3(CCDC115):c.92T>C (p.Leu31Ser) http://identifiers.org/clinvar/242871 ^@ NC_000002.11:g.(130939272_131096872)_(131116671_?)del http://identifiers.org/clinvar/25060 ^@ NM_001128425.1(MUTYH):c.1213C>T (p.Pro405Ser) http://identifiers.org/clinvar/25060 ^@ NM_000060.4(BTD):c.1334G>T (p.Gly445Val) http://identifiers.org/clinvar/253009 ^@ NM_198569.2(ADGRG6):c.2306T>A (p.Val769Glu) http://identifiers.org/clinvar/253009 ^@ NM_020455.5(ADGRG6):c.2222T>A (p.Val741Asp) http://identifiers.org/clinvar/253186 ^@ NM_024549.5(TCTN1):c.221-2A>G http://identifiers.org/clinvar/253186 ^@ NM_024549.5(TCTN1):c.856C>T (p.Arg286Ter) http://identifiers.org/clinvar/369973 ^@ NM_207361.5(FREM2):c.4031G>A (p.Arg1344His) http://identifiers.org/clinvar/369973 ^@ NM_207361.5(FREM2):c.4558C>T (p.Arg1520Trp) http://identifiers.org/clinvar/375673 ^@ NM_152524.5(SGO2):c.1453_1454delGA (p.Glu485Lysfs) http://identifiers.org/clinvar/375673 ^@ NM_012130.3(CLDN14):c.254T>A (p.Val85Asp) http://identifiers.org/clinvar/375750 ^@ NM_000517.4:c.-2_-3delAC http://identifiers.org/clinvar/375750 ^@ NM_000517.4:c.-alpha3.7 http://identifiers.org/clinvar/40189 ^@ NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter) http://identifiers.org/clinvar/40189 ^@ NM_000492.3(CFTR):c.3276C>G (p.Tyr1092Ter) http://identifiers.org/clinvar/50898 ^@ NM_000036.2(AMPD1):c.242C>T (p.Pro81Leu) http://identifiers.org/clinvar/50898 ^@ NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) http://identifiers.org/clinvar/55905 ^@ NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) http://identifiers.org/clinvar/55905 ^@ NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) http://identifiers.org/clinvar/65396 ^@ NM_000540.2(RYR1):c.10348-6C>G http://identifiers.org/clinvar/65396 ^@ NM_000540.2(RYR1):c.14524G>A (p.Val4842Met)