Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.39965640_39965648dup	CA2637662621	GSDMA	c.-5-43_-5-35dup (n.-5-43_-5-35dup)	gnomAD v4
17	g.39965640_39965648del	CA2259332139	GSDMA	c.-5-43_-5-35del (n.-5-43_-5-35del)	dbSNP gnomAD v4
17	g.39965641T>C	CA2637662647	GSDMA	c.-5-42T>C (n.-5-42T>C)	gnomAD v4
17	g.39965642G>A	CA2637662649	GSDMA	c.-5-41G>A (n.-5-41G>A)	gnomAD v4
17	g.39965642G>T	CA2576256593	GSDMA	c.-5-41G>T (n.-5-41G>T)
17	g.39965643G>A	CA626210067	GSDMA	c.-5-40G>A (n.-5-40G>A)	dbSNP gnomAD v2
17	g.39965643G>C	CA2259332145	GSDMA	c.-5-40G>C (n.-5-40G>C)	dbSNP gnomAD v4
17	g.39965643G=	CA2259332144	GSDMA	c.-5-40G= (n.-5-40G=)
17	g.39965643G>T	CA2637662650	GSDMA	c.-5-40G>T (n.-5-40G>T)	gnomAD v4
17	g.39965644C>A	CA2259332147	GSDMA	c.-5-39C>A (n.-5-39C>A)	dbSNP
17	g.39965644C=	CA2259332146	GSDMA	c.-5-39C= (n.-5-39C=)
17	g.39965644C>T	CA2576256594	GSDMA	c.-5-39C>T (n.-5-39C>T)	gnomAD v4
17	g.39965646G>A	CA2637662657	GSDMA	c.-5-37G>A (n.-5-37G>A)	gnomAD v4
17	g.39965647C>A	CA2576256595	GSDMA	c.-5-36C>A (n.-5-36C>A)	gnomAD v4
17	g.39965647C=	CA2259332148	GSDMA	c.-5-36C= (n.-5-36C=)
17	g.39965647C>G	CA983634133	GSDMA	c.-5-36C>G (n.-5-36C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.39965648C>A	CA2637662667	GSDMA	c.-5-35C>A (n.-5-35C>A)	gnomAD v4
17	g.39965648C>T	CA2637662666	GSDMA	c.-5-35C>T (n.-5-35C>T)	gnomAD v4
17	g.39965649A=	CA2259332149	GSDMA	c.-5-34A= (n.-5-34A=)
17	g.39965649A>C	CA626210068	GSDMA	c.-5-34A>C (n.-5-34A>C)	dbSNP gnomAD v2
17	g.39965650C>A	CA626210069	GSDMA	c.-5-33C>A (n.-5-33C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.39965650C=	CA2259332150	GSDMA	c.-5-33C= (n.-5-33C=)
17	g.39965651C>G	CA2576256596	GSDMA	c.-5-32C>G (n.-5-32C>G)
17	g.39965651C>T	CA2576256597	GSDMA	c.-5-32C>T (n.-5-32C>T)
17	g.39965651_39965652delinsCT	CA2259332151	GSDMA	c.-5-32_-5-31delinsCT (n.-5-32_-5-31delinsCT)
17	g.39965653del	CA626210070	GSDMA	c.-5-30del (n.-5-30del)	dbSNP gnomAD v2 gnomAD v4
17	g.39965653T>C	CA2259332152	GSDMA	c.-5-30T>C (n.-5-30T>C)	dbSNP gnomAD v4
17	g.39965653T>G	CA290468105	GSDMA	c.-5-30T>G (n.-5-30T>G)	dbSNP
17	g.39965653T=	CA2259332153	GSDMA	c.-5-30T= (n.-5-30T=)
17	g.39965654G>A	CA626210071	GSDMA	c.-5-29G>A (n.-5-29G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.39965654G=	CA2259332154	GSDMA	c.-5-29G= (n.-5-29G=)
17	g.39965654G>T	CA2637662679	GSDMA	c.-5-29G>T (n.-5-29G>T)	gnomAD v4
17	g.39965656C>A	CA2637662680	GSDMA	c.-5-27C>A (n.-5-27C>A)	gnomAD v4
17	g.39965658C>A	CA2637662682	GSDMA	c.-5-25C>A (n.-5-25C>A)	gnomAD v4
17	g.39965658C>T	CA2637662683	GSDMA	c.-5-25C>T (n.-5-25C>T)	gnomAD v4
17	g.39965658_39965659insAGCTGGAAAGAA	CA2504158128	GSDMA	c.-5-25_-5-24insAGCTGGAAAGAA (n.-5-25_-5-24insAGCTGGAAAGAA)
17	g.39965660C>A	CA2576256598	GSDMA	c.-5-23C>A (n.-5-23C>A)	gnomAD v4
17	g.39965660C>G	CA2637662684	GSDMA	c.-5-23C>G (n.-5-23C>G)	gnomAD v4
17	g.39965660C>T	CA2637662685	GSDMA	c.-5-23C>T (n.-5-23C>T)	gnomAD v4
17	g.39965661T>C	CA2637662687	GSDMA	c.-5-22T>C (n.-5-22T>C)	gnomAD v4
17	g.39965662C>A	CA2637662691	GSDMA	c.-5-21C>A (n.-5-21C>A)	gnomAD v4
17	g.39965663C>A	CA2637662692	GSDMA	c.-5-20C>A (n.-5-20C>A)	gnomAD v4
17	g.39965663C=	CA2259332155	GSDMA	c.-5-20C= (n.-5-20C=)
17	g.39965663C>T	CA8536736	GSDMA	c.-5-20C>T (n.-5-20C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965664T>C	CA626210072	GSDMA	c.-5-19T>C (n.-5-19T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965664T=	CA2259332156	GSDMA	c.-5-19T= (n.-5-19T=)
17	g.39965665G>A	CA2637662695	GSDMA	c.-5-18G>A (n.-5-18G>A)	gnomAD v4
17	g.39965665G>C	CA8536737	GSDMA	c.-5-18G>C (n.-5-18G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965665G=	CA2259332157	GSDMA	c.-5-18G= (n.-5-18G=)
17	g.39965665G>T	CA2637662696	GSDMA	c.-5-18G>T (n.-5-18G>T)	gnomAD v4
17	g.39965666T>C	CA771889080	GSDMA	c.-5-17T>C (n.-5-17T>C)	dbSNP
17	g.39965666T=	CA2259332158	GSDMA	c.-5-17T= (n.-5-17T=)
17	g.39965667C>A	CA2576256599	GSDMA	c.-5-16C>A (n.-5-16C>A)	gnomAD v4
17	g.39965667C=	CA2259332159	GSDMA	c.-5-16C= (n.-5-16C=)
17	g.39965667C>G	CA2637662698	GSDMA	c.-5-16C>G (n.-5-16C>G)	gnomAD v4
17	g.39965667C>T	CA8536738	GSDMA	c.-5-16C>T (n.-5-16C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965668T>A	CA626210073	GSDMA	c.-5-15T>A (n.-5-15T>A)	dbSNP gnomAD v2 gnomAD v4
17	g.39965668T>G	CA2637662706	GSDMA	c.-5-15T>G (n.-5-15T>G)	gnomAD v4
17	g.39965668T=	CA2259332160	GSDMA	c.-5-15T= (n.-5-15T=)
17	g.39965669C>A	CA2637662710	GSDMA	c.-5-14C>A (n.-5-14C>A)	gnomAD v4
17	g.39965671_39965672del	CA2809451052	GSDMA	c.-5-12_-5-11del (n.-5-12_-5-11del)
17	g.39965670C>A	CA2637662712	GSDMA	c.-5-13C>A (n.-5-13C>A)	gnomAD v4
17	g.39965670C>T	CA2637662714	GSDMA	c.-5-13C>T (n.-5-13C>T)	gnomAD v4
17	g.39965671C>A	CA2637662715	GSDMA	c.-5-12C>A (n.-5-12C>A)	gnomAD v4
17	g.39965671C>T	CA2637662716	GSDMA	c.-5-12C>T (n.-5-12C>T)	gnomAD v4
17	g.39965672C>A	CA2508454981	GSDMA	c.-5-11C>A (n.-5-11C>A)	gnomAD v4
17	g.39965672C>T	CA2637662719	GSDMA	c.-5-11C>T (n.-5-11C>T)	gnomAD v4
17	g.39965673A=	CA2259332162	GSDMA	c.-5-10A= (n.-5-10A=)
17	g.39965673A>C	CA2259332161	GSDMA	c.-5-10A>C (n.-5-10A>C)	dbSNP
17	g.39965673A>G	CA2637662725	GSDMA	c.-5-10A>G (n.-5-10A>G)	gnomAD v4
17	g.39965674C>A	CA2637662726	GSDMA	c.-5-9C>A (n.-5-9C>A)	gnomAD v4
17	g.39965674C>T	CA2637662727	GSDMA	c.-5-9C>T (n.-5-9C>T)	gnomAD v4
17	g.39965675C>A	CA2637662728	GSDMA	c.-5-8C>A (n.-5-8C>A)	gnomAD v4
17	g.39965679A=	CA2259332163	GSDMA	c.-5-4A= (n.-5-4A=)
17	g.39965679A>G	CA8536739	GSDMA	c.-5-4A>G (n.-5-4A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965680C=	CA2259332164	GSDMA	c.-5-3C= (n.-5-3C=)
17	g.39965680C>G	CA2637662731	GSDMA	c.-5-3C>G (n.-5-3C>G)	gnomAD v4
17	g.39965680C>T	CA8536740	GSDMA	c.-5-3C>T (n.-5-3C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965682G>A	CA626210074	GSDMA	c.-5-1G>A (n.-5-1G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.39965682G=	CA2259332165	GSDMA	c.-5-1G= (n.-5-1G=)
17	g.39965682_39965683insC	CA656783917	GSDMA	c.-5-1_-5insC (n.-5-1_-5insC)	COSMIC
17	g.39965684G>A	CA2637662742	GSDMA	c.-4G>A (n.-4G>A)	gnomAD v4
17	g.39965687A>G	CA2637662743	GSDMA	c.-1A>G (n.-1A>G)	gnomAD v4
17	g.39965688A>C	CA399272049	GSDMA	c.1A>C (p.Met1Leu)
17	g.39965688A>G	CA399272044	GSDMA	c.1A>G (p.Met1Val)
17	g.39965688A>T	CA399272048	GSDMA	c.1A>T (p.Met1Leu)
17	g.39965689T>A	CA399272053	GSDMA	c.2T>A (p.Met1Lys)
17	g.39965689T>C	CA399272057	GSDMA	c.2T>C (p.Met1Thr)	gnomAD v4
17	g.39965689T>G	CA399272066	GSDMA	c.2T>G (p.Met1Arg)
17	g.39965690G>A	CA399272075	GSDMA	c.3G>A (p.Met1Ile)
17	g.39965690G>C	CA399272071	GSDMA	c.3G>C (p.Met1Ile)
17	g.39965690G>T	CA399272069	GSDMA	c.3G>T (p.Met1Ile)	gnomAD v4
17	g.39965691A=	CA2259332166	GSDMA	c.4A= (p.Thr2=)
17	g.39965691A>C	CA399272081	GSDMA	c.4A>C (p.Thr2Pro)
17	g.39965691A>G	CA399272090	GSDMA	c.4A>G (p.Thr2Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.39965691A>T	CA399272092	GSDMA	c.4A>T (p.Thr2Ser)
17	g.39965692C>A	CA399272097	GSDMA	c.5C>A (p.Thr2Asn)	gnomAD v4
17	g.39965692C=	CA2259332167	GSDMA	c.5C= (p.Thr2=)
17	g.39965692C>G	CA399272106	GSDMA	c.5C>G (p.Thr2Ser)	gnomAD v4
17	g.39965692C>T	CA8536741	GSDMA	c.5C>T (p.Thr2Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965693C>A	CA499927519	GSDMA	c.6C>A (p.Thr2=)
17	g.39965693C>G	CA499927520	GSDMA	c.6C>G (p.Thr2=)
17	g.39965693C>T	CA499927521	GSDMA	c.6C>T (p.Thr2=)
17	g.39965694A=	CA2259332168	GSDMA	c.7A= (p.Met3=)
17	g.39965694A>C	CA399272113	GSDMA	c.7A>C (p.Met3Leu)	gnomAD v4
17	g.39965694A>G	CA8536742	GSDMA	c.7A>G (p.Met3Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965694A>T	CA399272116	GSDMA	c.7A>T (p.Met3Leu)
17	g.39965695T>A	CA399272124	GSDMA	c.8T>A (p.Met3Lys)	gnomAD v4
17	g.39965695T>C	CA8536743	GSDMA	c.8T>C (p.Met3Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965695T>G	CA399272125	GSDMA	c.8T>G (p.Met3Arg)
17	g.39965695T=	CA2259332169	GSDMA	c.8T= (p.Met3=)
17	g.39965696G>A	CA399272130	GSDMA	c.9G>A (p.Met3Ile)
17	g.39965696G>C	CA399272138	GSDMA	c.9G>C (p.Met3Ile)
17	g.39965696G>T	CA399272142	GSDMA	c.9G>T (p.Met3Ile)	dbSNP
17	g.39965696_39965698delinsGTT	CA2259332170	GSDMA	c.9_11delinsGTT (p.Met3=)
17	g.39965697T>A	CA399272155	GSDMA	c.10T>A (p.Phe4Ile)
17	g.39965697T>C	CA399272158	GSDMA	c.10T>C (p.Phe4Leu)
17	g.39965697T>G	CA399272162	GSDMA	c.10T>G (p.Phe4Val)
17	g.39965698_39965699del	CA8536744	GSDMA	c.11_12del (p.Phe4Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965698T>A	CA399272176	GSDMA	c.11T>A (p.Phe4Tyr)
17	g.39965698T>C	CA399272174	GSDMA	c.11T>C (p.Phe4Ser)
17	g.39965698T>G	CA399272173	GSDMA	c.11T>G (p.Phe4Cys)
17	g.39965699T>A	CA399272178	GSDMA	c.12T>A (p.Phe4Leu)
17	g.39965699T>C	CA499927522	GSDMA	c.12T>C (p.Phe4=)
17	g.39965699T>G	CA399272180	GSDMA	c.12T>G (p.Phe4Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.39965699T=	CA2259332171	GSDMA	c.12T= (p.Phe4=)
17	g.39965700G>A	CA399272183	GSDMA	c.13G>A (p.Glu5Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965700G>C	CA399272184	GSDMA	c.13G>C (p.Glu5Gln)
17	g.39965700G=	CA2259332172	GSDMA	c.13G= (p.Glu5=)
17	g.39965700G>T	CA399272186	GSDMA	c.13G>T (p.Glu5Ter)
17	g.39965701A>C	CA399272189	GSDMA	c.14A>C (p.Glu5Ala)
17	g.39965701A>G	CA399272196	GSDMA	c.14A>G (p.Glu5Gly)
17	g.39965701A>T	CA399272199	GSDMA	c.14A>T (p.Glu5Val)
17	g.39965704del	CA2637662773	GSDMA	c.17del (p.Asn6MetfsTer10)	gnomAD v4
17	g.39965702A=	CA2259332173	GSDMA	c.15A= (p.Glu5=)
17	g.39965702A>C	CA399272201	GSDMA	c.15A>C (p.Glu5Asp)
17	g.39965702A>G	CA499927523	GSDMA	c.15A>G (p.Glu5=)	dbSNP gnomAD v2
17	g.39965702A>T	CA399272203	GSDMA	c.15A>T (p.Glu5Asp)
17	g.39965703A>C	CA399272205	GSDMA	c.16A>C (p.Asn6His)
17	g.39965703A>G	CA399272209	GSDMA	c.16A>G (p.Asn6Asp)
17	g.39965703A>T	CA399272212	GSDMA	c.16A>T (p.Asn6Tyr)
17	g.39965704A>C	CA399272214	GSDMA	c.17A>C (p.Asn6Thr)
17	g.39965704A>G	CA399272216	GSDMA	c.17A>G (p.Asn6Ser)
17	g.39965704A>T	CA399272217	GSDMA	c.17A>T (p.Asn6Ile)
17	g.39965705T>A	CA399272225	GSDMA	c.18T>A (p.Asn6Lys)	gnomAD v4
17	g.39965705T>C	CA290468132	GSDMA	c.18T>C (p.Asn6=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965705T>G	CA399272231	GSDMA	c.18T>G (p.Asn6Lys)
17	g.39965705T=	CA2259332174	GSDMA	c.18T= (p.Asn6=)
17	g.39965706G>A	CA8536745	GSDMA	c.19G>A (p.Val7Ile)	dbSNP ExAC gnomAD v2
17	g.39965706G>C	CA399272239	GSDMA	c.19G>C (p.Val7Leu)
17	g.39965706G=	CA2259332175	GSDMA	c.19G= (p.Val7=)
17	g.39965706G>T	CA399272242	GSDMA	c.19G>T (p.Val7Phe)
17	g.39965707T>A	CA399272245	GSDMA	c.20T>A (p.Val7Asp)
17	g.39965707T>C	CA399272246	GSDMA	c.20T>C (p.Val7Ala)
17	g.39965707T>G	CA399272249	GSDMA	c.20T>G (p.Val7Gly)
17	g.39965708C>A	CA499927524	GSDMA	c.21C>A (p.Val7=)
17	g.39965708C>G	CA499927525	GSDMA	c.21C>G (p.Val7=)
17	g.39965708C>T	CA499927526	GSDMA	c.21C>T (p.Val7=)	COSMIC COSMIC
17	g.39965709A=	CA2259332176	GSDMA	c.22A= (p.Thr8=)
17	g.39965709A>C	CA399272254	GSDMA	c.22A>C (p.Thr8Pro)	dbSNP
17	g.39965709A>G	CA399272256	GSDMA	c.22A>G (p.Thr8Ala)
17	g.39965709A>T	CA399272261	GSDMA	c.22A>T (p.Thr8Ser)
17	g.39965710C>A	CA399272265	GSDMA	c.23C>A (p.Thr8Asn)
17	g.39965710C>G	CA399272266	GSDMA	c.23C>G (p.Thr8Ser)
17	g.39965710C>T	CA399272267	GSDMA	c.23C>T (p.Thr8Ile)
17	g.39965711C>A	CA499927527	GSDMA	c.24C>A (p.Thr8=)	gnomAD v4
17	g.39965711C=	CA2259332177	GSDMA	c.24C= (p.Thr8=)
17	g.39965711C>G	CA499927528	GSDMA	c.24C>G (p.Thr8=)
17	g.39965711C>T	CA499927529	GSDMA	c.24C>T (p.Thr8=)	dbSNP gnomAD v2 gnomAD v4
17	g.39965712C>A	CA499927530	GSDMA	c.25C>A (p.Arg9=)	gnomAD v4
17	g.39965712C=	CA2259332178	GSDMA	c.25C= (p.Arg9=)
17	g.39965712C>G	CA399272268	GSDMA	c.25C>G (p.Arg9Gly)	dbSNP gnomAD v4
17	g.39965712C>T	CA8536746	GSDMA	c.25C>T (p.Arg9Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965713G>A	CA8536747	GSDMA	c.26G>A (p.Arg9Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965713G>C	CA399272269	GSDMA	c.26G>C (p.Arg9Pro)
17	g.39965713G=	CA2259332179	GSDMA	c.26G= (p.Arg9=)
17	g.39965713G>T	CA399272271	GSDMA	c.26G>T (p.Arg9Leu)
17	g.39965714G>A	CA499927531	GSDMA	c.27G>A (p.Arg9=)	gnomAD v4
17	g.39965714G>C	CA499927532	GSDMA	c.27G>C (p.Arg9=)
17	g.39965714G>T	CA499927533	GSDMA	c.27G>T (p.Arg9=)
17	g.39965715G>A	CA8536748	GSDMA	c.28G>A (p.Ala10Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965715G>C	CA399272277	GSDMA	c.28G>C (p.Ala10Pro)
17	g.39965715G=	CA2259332180	GSDMA	c.28G= (p.Ala10=)
17	g.39965715G>T	CA399272282	GSDMA	c.28G>T (p.Ala10Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965716C>A	CA399272293	GSDMA	c.29C>A (p.Ala10Asp)	gnomAD v4
17	g.39965716C=	CA2259332181	GSDMA	c.29C= (p.Ala10=)
17	g.39965716C>G	CA399272287	GSDMA	c.29C>G (p.Ala10Gly)
17	g.39965716C>T	CA8536749	GSDMA	c.29C>T (p.Ala10Val)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17	g.39965717C>A	CA499927534	GSDMA	c.30C>A (p.Ala10=)
17	g.39965717C>G	CA499927535	GSDMA	c.30C>G (p.Ala10=)
17	g.39965717C>T	CA499927536	GSDMA	c.30C>T (p.Ala10=)
17	g.39965718C>A	CA399272295	GSDMA	c.31C>A (p.Leu11Met)
17	g.39965718C=	CA2259332182	GSDMA	c.31C= (p.Leu11=)
17	g.39965718C>G	CA399272299	GSDMA	c.31C>G (p.Leu11Val)
17	g.39965718C>T	CA499927537	GSDMA	c.31C>T (p.Leu11=)	dbSNP gnomAD v4
17	g.39965719T>A	CA399272300	GSDMA	c.32T>A (p.Leu11Gln)
17	g.39965719T>C	CA399272303	GSDMA	c.32T>C (p.Leu11Pro)
17	g.39965719T>G	CA399272306	GSDMA	c.32T>G (p.Leu11Arg)	gnomAD v4
17	g.39965720G>A	CA290468140	GSDMA	c.33G>A (p.Leu11=)	dbSNP gnomAD v4
17	g.39965720G>C	CA499927538	GSDMA	c.33G>C (p.Leu11=)	gnomAD v3 gnomAD v4
17	g.39965720G=	CA2259332183	GSDMA	c.33G= (p.Leu11=)
17	g.39965720G>T	CA499927539	GSDMA	c.33G>T (p.Leu11=)	dbSNP gnomAD v2 gnomAD v4
17	g.39965721G>A	CA8536750	GSDMA	c.34G>A (p.Ala12Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965721G>C	CA399272322	GSDMA	c.34G>C (p.Ala12Pro)
17	g.39965721G=	CA2259332184	GSDMA	c.34G= (p.Ala12=)
17	g.39965721G>T	CA8536751	GSDMA	c.34G>T (p.Ala12Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965722C>A	CA8536752	GSDMA	c.35C>A (p.Ala12Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965722C=	CA2259332185	GSDMA	c.35C= (p.Ala12=)
17	g.39965722C>G	CA399272336	GSDMA	c.35C>G (p.Ala12Gly)
17	g.39965722C>T	CA399272340	GSDMA	c.35C>T (p.Ala12Val)	COSMIC COSMIC
17	g.39965723C>A	CA499927540	GSDMA	c.36C>A (p.Ala12=)	gnomAD v4
17	g.39965723C=	CA2259332186	GSDMA	c.36C= (p.Ala12=)
17	g.39965723C>G	CA499927541	GSDMA	c.36C>G (p.Ala12=)
17	g.39965723C>T	CA290468154	GSDMA	c.36C>T (p.Ala12=)	dbSNP gnomAD v4
17	g.39965726_39965729del	CA2637662825	GSDMA	c.39_42del (p.Arg13SerfsTer2)	gnomAD v4
17	g.39965724A>C	CA499927542	GSDMA	c.37A>C (p.Arg13=)
17	g.39965724A>G	CA399272341	GSDMA	c.37A>G (p.Arg13Gly)
17	g.39965724A>T	CA399272342	GSDMA	c.37A>T (p.Arg13Ter)
17	g.39965725G>A	CA399272343	GSDMA	c.38G>A (p.Arg13Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.39965725G>C	CA399272344	GSDMA	c.38G>C (p.Arg13Thr)
17	g.39965725G=	CA2259332187	GSDMA	c.38G= (p.Arg13=)
17	g.39965725G>T	CA399272346	GSDMA	c.38G>T (p.Arg13Ile)	dbSNP gnomAD v4
17	g.39965726A>C	CA399272349	GSDMA	c.39A>C (p.Arg13Ser)
17	g.39965726A>G	CA499927543	GSDMA	c.39A>G (p.Arg13=)	gnomAD v4
17	g.39965726A>T	CA399272353	GSDMA	c.39A>T (p.Arg13Ser)
17	g.39965727C>A	CA399272387	GSDMA	c.40C>A (p.Gln14Lys)
17	g.39965727C=	CA2259332188	GSDMA	c.40C= (p.Gln14=)
17	g.39965727C>G	CA399272378	GSDMA	c.40C>G (p.Gln14Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.39965727C>T	CA399272361	GSDMA	c.40C>T (p.Gln14Ter)	dbSNP gnomAD v4
17	g.39965728A=	CA2259332189	GSDMA	c.41A= (p.Gln14=)
17	g.39965728A>C	CA399272390	GSDMA	c.41A>C (p.Gln14Pro)
17	g.39965728A>G	CA8536753	GSDMA	c.41A>G (p.Gln14Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965728A>T	CA399272403	GSDMA	c.41A>T (p.Gln14Leu)
17	g.39965729G>A	CA499927544	GSDMA	c.42G>A (p.Gln14=)	gnomAD v4
17	g.39965729G>C	CA399272408	GSDMA	c.42G>C (p.Gln14His)
17	g.39965729G>T	CA399272410	GSDMA	c.42G>T (p.Gln14His)	gnomAD v4
17	g.39965730C>A	CA399272414	GSDMA	c.43C>A (p.Leu15Ile)
17	g.39965730C>G	CA399272432	GSDMA	c.43C>G (p.Leu15Val)
17	g.39965730C>T	CA499927545	GSDMA	c.43C>T (p.Leu15=)
17	g.39965731T>A	CA399272445	GSDMA	c.44T>A (p.Leu15Gln)	dbSNP
17	g.39965731T>C	CA399272447	GSDMA	c.44T>C (p.Leu15Pro)
17	g.39965731T>G	CA399272454	GSDMA	c.44T>G (p.Leu15Arg)	gnomAD v4
17	g.39965731T=	CA2259332190	GSDMA	c.44T= (p.Leu15=)
17	g.39965732A=	CA2259332191	GSDMA	c.45A= (p.Leu15=)
17	g.39965732A>C	CA499927546	GSDMA	c.45A>C (p.Leu15=)
17	g.39965732A>G	CA499927547	GSDMA	c.45A>G (p.Leu15=)	COSMIC COSMIC
17	g.39965732A>T	CA499927548	GSDMA	c.45A>T (p.Leu15=)	dbSNP gnomAD v2
17	g.39965733A=	CA2259332192	GSDMA	c.46A= (p.Asn16=)
17	g.39965733A>C	CA399272457	GSDMA	c.46A>C (p.Asn16His)
17	g.39965733A>G	CA399272461	GSDMA	c.46A>G (p.Asn16Asp)
17	g.39965733A>T	CA399272464	GSDMA	c.46A>T (p.Asn16Tyr)	dbSNP
17	g.39965734A=	CA2259332193	GSDMA	c.47A= (p.Asn16=)
17	g.39965734A>C	CA399272470	GSDMA	c.47A>C (p.Asn16Thr)	dbSNP
17	g.39965734A>G	CA399272473	GSDMA	c.47A>G (p.Asn16Ser)
17	g.39965734A>T	CA399272476	GSDMA	c.47A>T (p.Asn16Ile)	gnomAD v4
17	g.39965735C>A	CA8536754	GSDMA	c.48C>A (p.Asn16Lys)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17	g.39965735C=	CA2259332194	GSDMA	c.48C= (p.Asn16=)
17	g.39965735C>G	CA399272482	GSDMA	c.48C>G (p.Asn16Lys)
17	g.39965735C>T	CA499927549	GSDMA	c.48C>T (p.Asn16=)	dbSNP gnomAD v2 gnomAD v4
17	g.39965737del	CA2637662852	GSDMA	c.50del (p.Pro17LeufsTer5)	gnomAD v4
17	g.39965736C>A	CA399272488	GSDMA	c.49C>A (p.Pro17Thr)	gnomAD v4
17	g.39965736C>G	CA399272485	GSDMA	c.49C>G (p.Pro17Ala)
17	g.39965736C>T	CA399272483	GSDMA	c.49C>T (p.Pro17Ser)
17	g.39965737C>A	CA399272493	GSDMA	c.50C>A (p.Pro17His)	gnomAD v4
17	g.39965737C=	CA2259332195	GSDMA	c.50C= (p.Pro17=)
17	g.39965737C>G	CA290468166	GSDMA	c.50C>G (p.Pro17Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.39965737C>T	CA399272508	GSDMA	c.50C>T (p.Pro17Leu)	gnomAD v4
17	g.39965738T>A	CA499927550	GSDMA	c.51T>A (p.Pro17=)
17	g.39965738T>C	CA499927551	GSDMA	c.51T>C (p.Pro17=)	dbSNP gnomAD v2
17	g.39965738T>G	CA499927552	GSDMA	c.51T>G (p.Pro17=)
17	g.39965738T=	CA2259332196	GSDMA	c.51T= (p.Pro17=)
17	g.39965739C>A	CA499927553	GSDMA	c.52C>A (p.Arg18=)	gnomAD v4
17	g.39965739C=	CA2259332197	GSDMA	c.52C= (p.Arg18=)
17	g.39965739C>G	CA399272518	GSDMA	c.52C>G (p.Arg18Gly)
17	g.39965739C>T	CA8536755	GSDMA	c.52C>T (p.Arg18Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965740G>A	CA8536756	GSDMA	c.53G>A (p.Arg18Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965740G>C	CA399272535	GSDMA	c.53G>C (p.Arg18Pro)	gnomAD v4 COSMIC COSMIC
17	g.39965740G=	CA2259332198	GSDMA	c.53G= (p.Arg18=)
17	g.39965740G>T	CA399272537	GSDMA	c.53G>T (p.Arg18Leu)

Number of alleles fetched