Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
17	g.39965741A>C	CA499927555	GSDMA	c.54A>C (p.Arg18=)	gnomAD v4
17	g.39965741A>G	CA499927556	GSDMA	c.54A>G (p.Arg18=)
17	g.39965741A>T	CA499927554	GSDMA	c.54A>T (p.Arg18=)
17	g.39965742G>A	CA399272549	GSDMA	c.55G>A (p.Gly19Arg)	gnomAD v4
17	g.39965742G>C	CA399272553	GSDMA	c.55G>C (p.Gly19Arg)
17	g.39965742G>T	CA399272555	GSDMA	c.55G>T (p.Gly19Trp)
17	g.39965743G>A	CA399272558	GSDMA	c.56G>A (p.Gly19Glu)	COSMIC COSMIC
17	g.39965743G>C	CA399272559	GSDMA	c.56G>C (p.Gly19Ala)
17	g.39965743G>T	CA399272561	GSDMA	c.56G>T (p.Gly19Val)
17	g.39965744G>A	CA499927559	GSDMA	c.57G>A (p.Gly19=)	dbSNP gnomAD v2
17	g.39965744G>C	CA499927557	GSDMA	c.57G>C (p.Gly19=)
17	g.39965744G=	CA2259332199	GSDMA	c.57G= (p.Gly19=)
17	g.39965744G>T	CA499927558	GSDMA	c.57G>T (p.Gly19=)
17	g.39965745G>A	CA399272567	GSDMA	c.58G>A (p.Asp20Asn)
17	g.39965745G>C	CA399272566	GSDMA	c.58G>C (p.Asp20His)
17	g.39965745G>T	CA399272563	GSDMA	c.58G>T (p.Asp20Tyr)	gnomAD v4
17	g.39965746A=	CA2259332200	GSDMA	c.59A= (p.Asp20=)
17	g.39965746A>C	CA399272569	GSDMA	c.59A>C (p.Asp20Ala)
17	g.39965746A>G	CA399272571	GSDMA	c.59A>G (p.Asp20Gly)	dbSNP gnomAD v2 gnomAD v4
17	g.39965746A>T	CA399272578	GSDMA	c.59A>T (p.Asp20Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965747C>A	CA399272581	GSDMA	c.60C>A (p.Asp20Glu)
17	g.39965747C>G	CA399272583	GSDMA	c.60C>G (p.Asp20Glu)
17	g.39965747C>T	CA499927560	GSDMA	c.60C>T (p.Asp20=)
17	g.39965747_39965748del	CA2637662875	GSDMA	c.60_61del (p.Leu21AspfsTer4)	gnomAD v4
17	g.39965748C>A	CA399272584	GSDMA	c.61C>A (p.Leu21Met)	gnomAD v4
17	g.39965748C=	CA2259332201	GSDMA	c.61C= (p.Leu21=)
17	g.39965748C>G	CA399272586	GSDMA	c.61C>G (p.Leu21Val)
17	g.39965748C>T	CA499927561	GSDMA	c.61C>T (p.Leu21=)	dbSNP gnomAD v2
17	g.39965749T>A	CA399272589	GSDMA	c.62T>A (p.Leu21Gln)
17	g.39965749T>C	CA399272603	GSDMA	c.62T>C (p.Leu21Pro)
17	g.39965749T>G	CA399272606	GSDMA	c.62T>G (p.Leu21Arg)
17	g.39965750G>A	CA499927564	GSDMA	c.63G>A (p.Leu21=)	dbSNP gnomAD v2 gnomAD v4
17	g.39965750G>C	CA499927563	GSDMA	c.63G>C (p.Leu21=)
17	g.39965750G=	CA2259332202	GSDMA	c.63G= (p.Leu21=)
17	g.39965750G>T	CA499927562	GSDMA	c.63G>T (p.Leu21=)
17	g.39965751A>C	CA399272610	GSDMA	c.64A>C (p.Thr22Pro)
17	g.39965751A>G	CA399272611	GSDMA	c.64A>G (p.Thr22Ala)
17	g.39965751A>T	CA399272614	GSDMA	c.64A>T (p.Thr22Ser)
17	g.39965752C>A	CA399272622	GSDMA	c.65C>A (p.Thr22Lys)
17	g.39965752C>G	CA399272620	GSDMA	c.65C>G (p.Thr22Arg)
17	g.39965752C>T	CA399272617	GSDMA	c.65C>T (p.Thr22Ile)
17	g.39965753A>C	CA499927567	GSDMA	c.66A>C (p.Thr22=)
17	g.39965753A>G	CA499927565	GSDMA	c.66A>G (p.Thr22=)	gnomAD v4
17	g.39965753A>T	CA499927566	GSDMA	c.66A>T (p.Thr22=)
17	g.39965754C>A	CA399272624	GSDMA	c.67C>A (p.Pro23Thr)
17	g.39965754C>G	CA399272630	GSDMA	c.67C>G (p.Pro23Ala)
17	g.39965754C>T	CA399272632	GSDMA	c.67C>T (p.Pro23Ser)
17	g.39965755C>A	CA399272635	GSDMA	c.68C>A (p.Pro23Gln)	gnomAD v4
17	g.39965755C=	CA2259332203	GSDMA	c.68C= (p.Pro23=)
17	g.39965755C>G	CA399272636	GSDMA	c.68C>G (p.Pro23Arg)
17	g.39965755C>T	CA8536757	GSDMA	c.68C>T (p.Pro23Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965756A>C	CA499927568	GSDMA	c.69A>C (p.Pro23=)
17	g.39965756A>G	CA499927569	GSDMA	c.69A>G (p.Pro23=)
17	g.39965756A>T	CA499927570	GSDMA	c.69A>T (p.Pro23=)
17	g.39965757C>A	CA399272638	GSDMA	c.70C>A (p.Leu24Ile)
17	g.39965757C=	CA2259332204	GSDMA	c.70C= (p.Leu24=)
17	g.39965757C>G	CA399272640	GSDMA	c.70C>G (p.Leu24Val)	dbSNP gnomAD v2 gnomAD v4
17	g.39965757C>T	CA399272647	GSDMA	c.70C>T (p.Leu24Phe)
17	g.39965758T>A	CA399272653	GSDMA	c.71T>A (p.Leu24His)
17	g.39965758T>C	CA399272660	GSDMA	c.71T>C (p.Leu24Pro)
17	g.39965758T>G	CA399272662	GSDMA	c.71T>G (p.Leu24Arg)
17	g.39965759T>A	CA499927571	GSDMA	c.72T>A (p.Leu24=)
17	g.39965759T>C	CA499927572	GSDMA	c.72T>C (p.Leu24=)
17	g.39965759T>G	CA8536758	GSDMA	c.72T>G (p.Leu24=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965759T=	CA2259332205	GSDMA	c.72T= (p.Leu24=)
17	g.39965759_39965771delinsTGACAGCCTCATC	CA2259332206	GSDMA	c.72_84delinsTGACAGCCTCATC (p.Leu24=)
17	g.39965760G>A	CA399272684	GSDMA	c.73G>A (p.Asp25Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.39965760G>C	CA399272677	GSDMA	c.73G>C (p.Asp25His)
17	g.39965760G=	CA2259332207	GSDMA	c.73G= (p.Asp25=)
17	g.39965760G>T	CA399272675	GSDMA	c.73G>T (p.Asp25Tyr)
17	g.39965763_39965774del	CA626210075	GSDMA	c.76_87del (p.Ser26_Asp29del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965761A>C	CA399272694	GSDMA	c.74A>C (p.Asp25Ala)
17	g.39965761A>G	CA399272696	GSDMA	c.74A>G (p.Asp25Gly)
17	g.39965761A>T	CA399272703	GSDMA	c.74A>T (p.Asp25Val)
17	g.39965762C>A	CA399272706	GSDMA	c.75C>A (p.Asp25Glu)	gnomAD v4
17	g.39965762C>G	CA399272707	GSDMA	c.75C>G (p.Asp25Glu)
17	g.39965762C>T	CA499927573	GSDMA	c.75C>T (p.Asp25=)	gnomAD v4
17	g.39965763A=	CA2259332208	GSDMA	c.76A= (p.Ser26=)
17	g.39965763A>C	CA399272710	GSDMA	c.76A>C (p.Ser26Arg)
17	g.39965763A>G	CA399272711	GSDMA	c.76A>G (p.Ser26Gly)	gnomAD v4
17	g.39965763A>T	CA399272713	GSDMA	c.76A>T (p.Ser26Cys)	dbSNP gnomAD v3 gnomAD v4
17	g.39965764G>A	CA399272718	GSDMA	c.77G>A (p.Ser26Asn)	gnomAD v4
17	g.39965764G>C	CA399272723	GSDMA	c.77G>C (p.Ser26Thr)
17	g.39965764G>T	CA399272727	GSDMA	c.77G>T (p.Ser26Ile)
17	g.39965765C>A	CA399272729	GSDMA	c.78C>A (p.Ser26Arg)	gnomAD v4
17	g.39965765C>G	CA399272730	GSDMA	c.78C>G (p.Ser26Arg)
17	g.39965765C>T	CA499927574	GSDMA	c.78C>T (p.Ser26=)
17	g.39965766C>A	CA399272739	GSDMA	c.79C>A (p.Leu27Ile)	gnomAD v4
17	g.39965766C=	CA2259332209	GSDMA	c.79C= (p.Leu27=)
17	g.39965766C>G	CA399272738	GSDMA	c.79C>G (p.Leu27Val)	gnomAD v4
17	g.39965766C>T	CA399272736	GSDMA	c.79C>T (p.Leu27Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.39965766_39965769delinsCTCA	CA2259332210	GSDMA	c.79_82delinsCTCA (p.Leu27=)
17	g.39965767T>A	CA399272741	GSDMA	c.80T>A (p.Leu27His)
17	g.39965767T>C	CA399272745	GSDMA	c.80T>C (p.Leu27Pro)	gnomAD v4
17	g.39965767T>G	CA399272746	GSDMA	c.80T>G (p.Leu27Arg)
17	g.39965769_39965771del	CA2259332211	GSDMA	c.82_84del (p.Ile28del)	dbSNP
17	g.39965768C>A	CA499927577	GSDMA	c.81C>A (p.Leu27=)
17	g.39965768C>G	CA499927578	GSDMA	c.81C>G (p.Leu27=)
17	g.39965768C>T	CA499927576	GSDMA	c.81C>T (p.Leu27=)
17	g.39965769A=	CA2259332212	GSDMA	c.82A= (p.Ile28=)
17	g.39965769A>C	CA399272751	GSDMA	c.82A>C (p.Ile28Leu)
17	g.39965769A>G	CA399272753	GSDMA	c.82A>G (p.Ile28Val)
17	g.39965769A>T	CA399272755	GSDMA	c.82A>T (p.Ile28Phe)	dbSNP gnomAD v2
17	g.39965770T>A	CA8536759	GSDMA	c.83T>A (p.Ile28Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965770T>C	CA399272758	GSDMA	c.83T>C (p.Ile28Thr)	gnomAD v4
17	g.39965770T>G	CA399272759	GSDMA	c.83T>G (p.Ile28Ser)
17	g.39965770T=	CA2259332213	GSDMA	c.83T= (p.Ile28=)
17	g.39965771C>A	CA499927579	GSDMA	c.84C>A (p.Ile28=)	gnomAD v4
17	g.39965771C=	CA2259332214	GSDMA	c.84C= (p.Ile28=)
17	g.39965771C>G	CA399272761	GSDMA	c.84C>G (p.Ile28Met)	dbSNP gnomAD v3 gnomAD v4
17	g.39965771C>T	CA8536760	GSDMA	c.84C>T (p.Ile28=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.39965772G>A	CA8536761	GSDMA	c.85G>A (p.Asp29Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965772G>C	CA399272765	GSDMA	c.85G>C (p.Asp29His)
17	g.39965772G=	CA2259332215	GSDMA	c.85G= (p.Asp29=)
17	g.39965772G>T	CA399272766	GSDMA	c.85G>T (p.Asp29Tyr)	gnomAD v4
17	g.39965773A>C	CA399272775	GSDMA	c.86A>C (p.Asp29Ala)
17	g.39965773A>G	CA399272773	GSDMA	c.86A>G (p.Asp29Gly)
17	g.39965773A>T	CA399272770	GSDMA	c.86A>T (p.Asp29Val)
17	g.39965774C>A	CA399272776	GSDMA	c.87C>A (p.Asp29Glu)
17	g.39965774C>G	CA399272779	GSDMA	c.87C>G (p.Asp29Glu)
17	g.39965774C>T	CA499927580	GSDMA	c.87C>T (p.Asp29=)	gnomAD v4
17	g.39965775T>A	CA399272783	GSDMA	c.88T>A (p.Phe30Ile)
17	g.39965775T>C	CA399272785	GSDMA	c.88T>C (p.Phe30Leu)
17	g.39965775T>G	CA399272791	GSDMA	c.88T>G (p.Phe30Val)
17	g.39965776T>A	CA399272793	GSDMA	c.89T>A (p.Phe30Tyr)
17	g.39965776T>C	CA399272800	GSDMA	c.89T>C (p.Phe30Ser)
17	g.39965776T>G	CA399272806	GSDMA	c.89T>G (p.Phe30Cys)
17	g.39965777C>A	CA399272809	GSDMA	c.90C>A (p.Phe30Leu)	gnomAD v4
17	g.39965777C>G	CA399272812	GSDMA	c.90C>G (p.Phe30Leu)
17	g.39965777C>T	CA499927581	GSDMA	c.90C>T (p.Phe30=)	gnomAD v4 COSMIC COSMIC
17	g.39965778A>C	CA399272816	GSDMA	c.91A>C (p.Lys31Gln)
17	g.39965778A>G	CA399272817	GSDMA	c.91A>G (p.Lys31Glu)	gnomAD v4
17	g.39965778A>T	CA399272818	GSDMA	c.91A>T (p.Lys31Ter)	gnomAD v4
17	g.39965779A>C	CA399272823	GSDMA	c.92A>C (p.Lys31Thr)
17	g.39965779A>G	CA399272819	GSDMA	c.92A>G (p.Lys31Arg)
17	g.39965779A>T	CA399272821	GSDMA	c.92A>T (p.Lys31Met)
17	g.39965780G>A	CA499927582	GSDMA	c.93G>A (p.Lys31=)	dbSNP
17	g.39965780G>C	CA399272827	GSDMA	c.93G>C (p.Lys31Asn)
17	g.39965780G=	CA2259332216	GSDMA	c.93G= (p.Lys31=)
17	g.39965780G>T	CA399272830	GSDMA	c.93G>T (p.Lys31Asn)
17	g.39965781C>A	CA8536763	GSDMA	c.94C>A (p.Arg32Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965781C=	CA2259332217	GSDMA	c.94C= (p.Arg32=)
17	g.39965781C>G	CA399272831	GSDMA	c.94C>G (p.Arg32Gly)	gnomAD v4
17	g.39965781C>T	CA8536762	GSDMA	c.94C>T (p.Arg32Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17	g.39965782G>A	CA8536764	GSDMA	c.95G>A (p.Arg32His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965782G>C	CA8536765	GSDMA	c.95G>C (p.Arg32Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965782G=	CA2259332218	GSDMA	c.95G= (p.Arg32=)
17	g.39965782G>T	CA399272836	GSDMA	c.95G>T (p.Arg32Leu)
17	g.39965783C>A	CA499927584	GSDMA	c.96C>A (p.Arg32=)
17	g.39965783C=	CA2259332219	GSDMA	c.96C= (p.Arg32=)
17	g.39965783C>G	CA499927585	GSDMA	c.96C>G (p.Arg32=)
17	g.39965783C>T	CA8536766	GSDMA	c.96C>T (p.Arg32=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965784T>A	CA399272843	GSDMA	c.97T>A (p.Phe33Ile)
17	g.39965784T>C	CA399272845	GSDMA	c.97T>C (p.Phe33Leu)
17	g.39965784T>G	CA399272848	GSDMA	c.97T>G (p.Phe33Val)
17	g.39965785T>A	CA399272855	GSDMA	c.98T>A (p.Phe33Tyr)
17	g.39965785T>C	CA399272851	GSDMA	c.98T>C (p.Phe33Ser)
17	g.39965785T>G	CA399272854	GSDMA	c.98T>G (p.Phe33Cys)
17	g.39965786C>A	CA399272856	GSDMA	c.99C>A (p.Phe33Leu)	gnomAD v4
17	g.39965786C=	CA2259332220	GSDMA	c.99C= (p.Phe33=)
17	g.39965786C>G	CA399272858	GSDMA	c.99C>G (p.Phe33Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965786C>T	CA499927586	GSDMA	c.99C>T (p.Phe33=)
17	g.39965787C>A	CA399272861	GSDMA	c.100C>A (p.His34Asn)	dbSNP
17	g.39965787C=	CA2259332221	GSDMA	c.100C= (p.His34=)
17	g.39965787C>G	CA399272871	GSDMA	c.100C>G (p.His34Asp)
17	g.39965787C>T	CA399272869	GSDMA	c.100C>T (p.His34Tyr)	gnomAD v4
17	g.39965788A=	CA2259332222	GSDMA	c.101A= (p.His34=)
17	g.39965788A>C	CA399272875	GSDMA	c.101A>C (p.His34Pro)
17	g.39965788A>G	CA399272878	GSDMA	c.101A>G (p.His34Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.39965788A>T	CA399272881	GSDMA	c.101A>T (p.His34Leu)
17	g.39965789T>A	CA399272885	GSDMA	c.102T>A (p.His34Gln)
17	g.39965789T>C	CA290468210	GSDMA	c.102T>C (p.His34=)	dbSNP gnomAD v4
17	g.39965789T>G	CA399272887	GSDMA	c.102T>G (p.His34Gln)
17	g.39965789T=	CA2259332223	GSDMA	c.102T= (p.His34=)
17	g.39965789_39965790insTGCTAAATAAATGCTCTAGACCAGGCGCAGTGGCTCACA	CA2809450492	GSDMA	c.102_103insTGCTAAATAAATGCTCTAGACCAGGCGCAGTGGCTCACA
17	g.39965790C>A	CA399272889	GSDMA	c.103C>A (p.Pro35Thr)
17	g.39965790C=	CA2259332224	GSDMA	c.103C= (p.Pro35=)
17	g.39965790C>G	CA399272891	GSDMA	c.103C>G (p.Pro35Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.39965790C>T	CA399272893	GSDMA	c.103C>T (p.Pro35Ser)
17	g.39965791C>A	CA399272895	GSDMA	c.104C>A (p.Pro35His)
17	g.39965791C=	CA2259332225	GSDMA	c.104C= (p.Pro35=)
17	g.39965791C>G	CA399272896	GSDMA	c.104C>G (p.Pro35Arg)
17	g.39965791C>T	CA399272897	GSDMA	c.104C>T (p.Pro35Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.39965792C>A	CA499927587	GSDMA	c.105C>A (p.Pro35=)
17	g.39965792C=	CA2259332226	GSDMA	c.105C= (p.Pro35=)
17	g.39965792C>G	CA499927588	GSDMA	c.105C>G (p.Pro35=)
17	g.39965792C>T	CA290468216	GSDMA	c.105C>T (p.Pro35=)	dbSNP gnomAD v2 gnomAD v4
17	g.39965793T>A	CA399272901	GSDMA	c.106T>A (p.Phe36Ile)
17	g.39965793T>C	CA399272900	GSDMA	c.106T>C (p.Phe36Leu)
17	g.39965793T>G	CA399272898	GSDMA	c.106T>G (p.Phe36Val)	dbSNP gnomAD v4
17	g.39965793T=	CA2259332227	GSDMA	c.106T= (p.Phe36=)
17	g.39965794dup	CA645579237	GSDMA	c.107dup (p.Cys37LeufsTer29)	COSMIC COSMIC
17	g.39965794T>A	CA399272902	GSDMA	c.107T>A (p.Phe36Tyr)
17	g.39965794T>C	CA8536767	GSDMA	c.107T>C (p.Phe36Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965794T>G	CA399272906	GSDMA	c.107T>G (p.Phe36Cys)
17	g.39965794T=	CA2259332228	GSDMA	c.107T= (p.Phe36=)
17	g.39965795C>A	CA399272908	GSDMA	c.108C>A (p.Phe36Leu)
17	g.39965795C>G	CA399272910	GSDMA	c.108C>G (p.Phe36Leu)
17	g.39965795C>T	CA499927589	GSDMA	c.108C>T (p.Phe36=)
17	g.39965796T>A	CA399272912	GSDMA	c.109T>A (p.Cys37Ser)
17	g.39965796T>C	CA399272914	GSDMA	c.109T>C (p.Cys37Arg)
17	g.39965796T>G	CA399272915	GSDMA	c.109T>G (p.Cys37Gly)
17	g.39965797G>A	CA399272917	GSDMA	c.110G>A (p.Cys37Tyr)	gnomAD v4
17	g.39965797G>C	CA399272919	GSDMA	c.110G>C (p.Cys37Ser)
17	g.39965797G>T	CA399272921	GSDMA	c.110G>T (p.Cys37Phe)
17	g.39965798C>A	CA399272924	GSDMA	c.111C>A (p.Cys37Ter)	gnomAD v4
17	g.39965798C>G	CA399272925	GSDMA	c.111C>G (p.Cys37Trp)
17	g.39965798C>T	CA499927590	GSDMA	c.111C>T (p.Cys37=)	gnomAD v4
17	g.39965799C>A	CA399272926	GSDMA	c.112C>A (p.Leu38Met)
17	g.39965799C>G	CA399272928	GSDMA	c.112C>G (p.Leu38Val)
17	g.39965799C>T	CA499927591	GSDMA	c.112C>T (p.Leu38=)
17	g.39965800T>A	CA399272930	GSDMA	c.113T>A (p.Leu38Gln)
17	g.39965800T>C	CA8536768	GSDMA	c.113T>C (p.Leu38Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965800T>G	CA399272932	GSDMA	c.113T>G (p.Leu38Arg)
17	g.39965800T=	CA2259332229	GSDMA	c.113T= (p.Leu38=)
17	g.39965801G>A	CA499927592	GSDMA	c.114G>A (p.Leu38=)	dbSNP gnomAD v2
17	g.39965801G>C	CA499927593	GSDMA	c.114G>C (p.Leu38=)
17	g.39965801G=	CA2259332230	GSDMA	c.114G= (p.Leu38=)
17	g.39965801G>T	CA499927594	GSDMA	c.114G>T (p.Leu38=)
17	g.39965802G>A	CA399272934	GSDMA	c.115G>A (p.Val39Met)	dbSNP gnomAD v2 gnomAD v4
17	g.39965802G>C	CA399272937	GSDMA	c.115G>C (p.Val39Leu)
17	g.39965802G=	CA2259332231	GSDMA	c.115G= (p.Val39=)
17	g.39965802G>T	CA399272939	GSDMA	c.115G>T (p.Val39Leu)
17	g.39965803T>A	CA399272941	GSDMA	c.116T>A (p.Val39Glu)
17	g.39965803T>C	CA399272942	GSDMA	c.116T>C (p.Val39Ala)
17	g.39965803T>G	CA399272944	GSDMA	c.116T>G (p.Val39Gly)
17	g.39965804G>A	CA499927596	GSDMA	c.117G>A (p.Val39=)
17	g.39965804G>C	CA499927597	GSDMA	c.117G>C (p.Val39=)
17	g.39965804G>T	CA499927599	GSDMA	c.117G>T (p.Val39=)
17	g.39965805C>A	CA399272945	GSDMA	c.118C>A (p.Leu40Met)	gnomAD v4
17	g.39965805C>G	CA399272947	GSDMA	c.118C>G (p.Leu40Val)
17	g.39965805C>T	CA499927600	GSDMA	c.118C>T (p.Leu40=)	COSMIC COSMIC
17	g.39965806T>A	CA399272949	GSDMA	c.119T>A (p.Leu40Gln)
17	g.39965806T>C	CA399272950	GSDMA	c.119T>C (p.Leu40Pro)
17	g.39965806T>G	CA399272952	GSDMA	c.119T>G (p.Leu40Arg)
17	g.39965807G>A	CA499927603	GSDMA	c.120G>A (p.Leu40=)
17	g.39965807G>C	CA499927601	GSDMA	c.120G>C (p.Leu40=)
17	g.39965807G>T	CA499927602	GSDMA	c.120G>T (p.Leu40=)	gnomAD v4
17	g.39965816_39965821dup	CA2809450496	GSDMA	c.129_134dup (p.Lys44_Ser45insArgLys)
17	g.39965808A>C	CA499927604	GSDMA	c.121A>C (p.Arg41=)
17	g.39965808A>G	CA399272954	GSDMA	c.121A>G (p.Arg41Gly)
17	g.39965808A>T	CA399272956	GSDMA	c.121A>T (p.Arg41Trp)
17	g.39965809G>A	CA399272957	GSDMA	c.122G>A (p.Arg41Lys)
17	g.39965809G>C	CA399272959	GSDMA	c.122G>C (p.Arg41Thr)
17	g.39965809G>T	CA399272960	GSDMA	c.122G>T (p.Arg41Met)	gnomAD v4
17	g.39965810G>A	CA8536769	GSDMA	c.123G>A (p.Arg41=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965810G>C	CA290468227	GSDMA	c.123G>C (p.Arg41Ser)	dbSNP
17	g.39965810G=	CA2259332232	GSDMA	c.123G= (p.Arg41=)
17	g.39965810G>T	CA399272963	GSDMA	c.123G>T (p.Arg41Ser)
17	g.39965811A=	CA2259332233	GSDMA	c.124A= (p.Lys42=)
17	g.39965811A>C	CA399272965	GSDMA	c.124A>C (p.Lys42Gln)	gnomAD v4
17	g.39965811A>G	CA399272967	GSDMA	c.124A>G (p.Lys42Glu)
17	g.39965811A>T	CA399272968	GSDMA	c.124A>T (p.Lys42Ter)	dbSNP
17	g.39965812del	CA913012093	GSDMA	c.125del (p.Lys42ArgfsTer?)
17	g.39965812A=	CA2259332234	GSDMA	c.125A= (p.Lys42=)
17	g.39965812A>C	CA399272969	GSDMA	c.125A>C (p.Lys42Thr)	dbSNP
17	g.39965812A>G	CA399272971	GSDMA	c.125A>G (p.Lys42Arg)	dbSNP gnomAD v4
17	g.39965812A>T	CA8536770	GSDMA	c.125A>T (p.Lys42Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965813G>A	CA499927605	GSDMA	c.126G>A (p.Lys42=)	dbSNP gnomAD v3 gnomAD v4
17	g.39965813G>C	CA399272973	GSDMA	c.126G>C (p.Lys42Asn)
17	g.39965813G=	CA2259332235	GSDMA	c.126G= (p.Lys42=)
17	g.39965813G>T	CA399272975	GSDMA	c.126G>T (p.Lys42Asn)
17	g.39965814A>C	CA499927606	GSDMA	c.127A>C (p.Arg43=)
17	g.39965814A>G	CA399272976	GSDMA	c.127A>G (p.Arg43Gly)
17	g.39965814A>T	CA399272978	GSDMA	c.127A>T (p.Arg43Trp)
17	g.39965815G>A	CA399272979	GSDMA	c.128G>A (p.Arg43Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.39965815G>C	CA399272980	GSDMA	c.128G>C (p.Arg43Thr)
17	g.39965815G=	CA2259332236	GSDMA	c.128G= (p.Arg43=)
17	g.39965815G>T	CA399272981	GSDMA	c.128G>T (p.Arg43Met)
17	g.39965816G>A	CA499927607	GSDMA	c.129G>A (p.Arg43=)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17	g.39965816G>C	CA399272982	GSDMA	c.129G>C (p.Arg43Ser)
17	g.39965816G=	CA2259332237	GSDMA	c.129G= (p.Arg43=)
17	g.39965816G>T	CA399272984	GSDMA	c.129G>T (p.Arg43Ser)
17	g.39965817A>C	CA399272988	GSDMA	c.130A>C (p.Lys44Gln)
17	g.39965817A>G	CA399272986	GSDMA	c.130A>G (p.Lys44Glu)
17	g.39965817A>T	CA399272987	GSDMA	c.130A>T (p.Lys44Ter)
17	g.39965818A=	CA2259332238	GSDMA	c.131A= (p.Lys44=)
17	g.39965818A>C	CA399272989	GSDMA	c.131A>C (p.Lys44Thr)	dbSNP gnomAD v4
17	g.39965818A>G	CA399272991	GSDMA	c.131A>G (p.Lys44Arg)
17	g.39965818A>T	CA399272993	GSDMA	c.131A>T (p.Lys44Met)
17	g.39965819G>A	CA499927608	GSDMA	c.132G>A (p.Lys44=)	COSMIC COSMIC
17	g.39965819G>C	CA399272994	GSDMA	c.132G>C (p.Lys44Asn)
17	g.39965819G>T	CA399272996	GSDMA	c.132G>T (p.Lys44Asn)	gnomAD v4
17	g.39965820A>C	CA399272998	GSDMA	c.133A>C (p.Ser45Arg)	gnomAD v4
17	g.39965820A>G	CA399273001	GSDMA	c.133A>G (p.Ser45Gly)
17	g.39965820A>T	CA399272999	GSDMA	c.133A>T (p.Ser45Cys)
17	g.39965821G>A	CA399273003	GSDMA	c.134G>A (p.Ser45Asn)
17	g.39965821G>C	CA399273004	GSDMA	c.134G>C (p.Ser45Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.39965821G=	CA2259332239	GSDMA	c.134G= (p.Ser45=)
17	g.39965821G>T	CA399273006	GSDMA	c.134G>T (p.Ser45Ile)	gnomAD v4
17	g.39965822C>A	CA399273008	GSDMA	c.135C>A (p.Ser45Arg)	gnomAD v4
17	g.39965822C>G	CA399273010	GSDMA	c.135C>G (p.Ser45Arg)
17	g.39965822C>T	CA499927609	GSDMA	c.135C>T (p.Ser45=)
17	g.39965823A>C	CA399273011	GSDMA	c.136A>C (p.Thr46Pro)
17	g.39965823A>G	CA399273013	GSDMA	c.136A>G (p.Thr46Ala)
17	g.39965823A>T	CA399273015	GSDMA	c.136A>T (p.Thr46Ser)
17	g.39965824C>A	CA399273017	GSDMA	c.137C>A (p.Thr46Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965824C=	CA2259332240	GSDMA	c.137C= (p.Thr46=)
17	g.39965824C>G	CA399273018	GSDMA	c.137C>G (p.Thr46Arg)
17	g.39965824C>T	CA8536771	GSDMA	c.137C>T (p.Thr46Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17	g.39965825G>A	CA8536772	GSDMA	c.138G>A (p.Thr46=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.39965825G>C	CA499927610	GSDMA	c.138G>C (p.Thr46=)
17	g.39965825G=	CA2259332241	GSDMA	c.138G= (p.Thr46=)
17	g.39965825G>T	CA499927611	GSDMA	c.138G>T (p.Thr46=)	gnomAD v4
17	g.39965826C>A	CA399273021	GSDMA	c.139C>A (p.Leu47Ile)	gnomAD v4
17	g.39965826C=	CA2259332242	GSDMA	c.139C= (p.Leu47=)
17	g.39965826C>G	CA8536773	GSDMA	c.139C>G (p.Leu47Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965826C>T	CA399273023	GSDMA	c.139C>T (p.Leu47Phe)	gnomAD v4
17	g.39965827T>A	CA399273025	GSDMA	c.140T>A (p.Leu47His)
17	g.39965827T>C	CA399273027	GSDMA	c.140T>C (p.Leu47Pro)
17	g.39965827T>G	CA399273029	GSDMA	c.140T>G (p.Leu47Arg)
17	g.39965828C>A	CA499927612	GSDMA	c.141C>A (p.Leu47=)	gnomAD v4
17	g.39965828C=	CA2259332243	GSDMA	c.141C= (p.Leu47=)
17	g.39965828C>G	CA8536774	GSDMA	c.141C>G (p.Leu47=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.39965828C>T	CA290468253	GSDMA	c.141C>T (p.Leu47=)	dbSNP gnomAD v2 gnomAD v4
17	g.39965829T>A	CA399273031	GSDMA	c.142T>A (p.Phe48Ile)
17	g.39965829T>C	CA399273033	GSDMA	c.142T>C (p.Phe48Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.39965829T>G	CA399273034	GSDMA	c.142T>G (p.Phe48Val)
17	g.39965829T=	CA2259332244	GSDMA	c.142T= (p.Phe48=)
17	g.39965830T>A	CA399273036	GSDMA	c.143T>A (p.Phe48Tyr)
17	g.39965830T>C	CA399273037	GSDMA	c.143T>C (p.Phe48Ser)	gnomAD v4
17	g.39965830T>G	CA399273039	GSDMA	c.143T>G (p.Phe48Cys)
17	g.39965831C>A	CA399273041	GSDMA	c.144C>A (p.Phe48Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.39965831C=	CA2259332245	GSDMA	c.144C= (p.Phe48=)
17	g.39965831C>G	CA399273043	GSDMA	c.144C>G (p.Phe48Leu)
17	g.39965831C>T	CA290468256	GSDMA	c.144C>T (p.Phe48=)	dbSNP gnomAD v4
17	g.39965832T>A	CA399273048	GSDMA	c.145T>A (p.Trp49Arg)
17	g.39965832T>C	CA399273047	GSDMA	c.145T>C (p.Trp49Arg)	dbSNP gnomAD v4
17	g.39965832T>G	CA399273045	GSDMA	c.145T>G (p.Trp49Gly)
17	g.39965832T=	CA2259332246	GSDMA	c.145T= (p.Trp49=)
17	g.39965833G>A	CA399273050	GSDMA	c.146G>A (p.Trp49Ter)	gnomAD v4
17	g.39965833G>C	CA399273051	GSDMA	c.146G>C (p.Trp49Ser)	gnomAD v4
17	g.39965833G=	CA2259332247	GSDMA	c.146G= (p.Trp49=)
17	g.39965833G>T	CA290468258	GSDMA	c.146G>T (p.Trp49Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.39965838dup	CA626210076	GSDMA	c.151dup (p.Ala51GlyfsTer15)	dbSNP gnomAD v2
17	g.39965838del	CA2637662998	GSDMA	c.151del (p.Ala51ProfsTer?)	gnomAD v4
17	g.39965834G>A	CA399273054	GSDMA	c.147G>A (p.Trp49Ter)	gnomAD v4
17	g.39965834G>C	CA399273055	GSDMA	c.147G>C (p.Trp49Cys)
17	g.39965834G>T	CA399273056	GSDMA	c.147G>T (p.Trp49Cys)	gnomAD v4
17	g.39965835G>A	CA399273057	GSDMA	c.148G>A (p.Gly50Arg)	gnomAD v4
17	g.39965835G>C	CA8536775	GSDMA	c.148G>C (p.Gly50Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.39965835G=	CA2259332248	GSDMA	c.148G= (p.Gly50=)
17	g.39965835G>T	CA399273059	GSDMA	c.148G>T (p.Gly50Trp)
17	g.39965836G>A	CA399273061	GSDMA	c.149G>A (p.Gly50Glu)	gnomAD v4
17	g.39965836G>C	CA399273062	GSDMA	c.149G>C (p.Gly50Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.39965836G=	CA2259332249	GSDMA	c.149G= (p.Gly50=)
17	g.39965836G>T	CA399273064	GSDMA	c.149G>T (p.Gly50Val)
17	g.39965837G>A	CA499927613	GSDMA	c.150G>A (p.Gly50=)	dbSNP gnomAD v2 gnomAD v4
17	g.39965837G>C	CA499927614	GSDMA	c.150G>C (p.Gly50=)
17	g.39965837G=	CA2259332250	GSDMA	c.150G= (p.Gly50=)
17	g.39965837G>T	CA499927615	GSDMA	c.150G>T (p.Gly50=)
17	g.39965838G>A	CA399273066	GSDMA	c.151G>A (p.Ala51Thr)	gnomAD v4
17	g.39965838G>C	CA399273069	GSDMA	c.151G>C (p.Ala51Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.39965838G=	CA2259332251	GSDMA	c.151G= (p.Ala51=)
17	g.39965838G>T	CA399273068	GSDMA	c.151G>T (p.Ala51Ser)
17	g.39965839C>A	CA399273070	GSDMA	c.152C>A (p.Ala51Asp)	gnomAD v4
17	g.39965839C=	CA2259332252	GSDMA	c.152C= (p.Ala51=)
17	g.39965839C>G	CA399273074	GSDMA	c.152C>G (p.Ala51Gly)
17	g.39965839C>T	CA399273072	GSDMA	c.152C>T (p.Ala51Val)	gnomAD v4
17	g.39965839_39965840insGGTG	CA2259332253	GSDMA	c.152_153insGGTG (p.Arg52ValfsTer15)	dbSNP
17	g.39965840C>A	CA499927617	GSDMA	c.153C>A (p.Ala51=)
17	g.39965840C=	CA2259332254	GSDMA	c.153C= (p.Ala51=)
17	g.39965840C>G	CA499927619	GSDMA	c.153C>G (p.Ala51=)	dbSNP
17	g.39965840C>T	CA499927618	GSDMA	c.153C>T (p.Ala51=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched