Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
5	g.151266803_151266816delinsTGTACCTTTGAACA	CA1591314947	GM2A	c.316_329delinsTGTACCTTTGAACA (p.Cys106=) c.191_204delinsTGTACCTTTGAACA c.361_374delinsTGTACCTTTGAACA (p.Cys121=)
5	g.151266804_151266816del	CA563957703	GM2A	c.317_329del (p.Cys106SerfsTer9) c.192_204del c.362_374del (p.Cys121SerfsTer9)	dbSNP gnomAD v2
5	g.151266811T>A	CA361807954	GM2A	c.324T>A (p.Phe108Leu) c.199T>A c.369T>A (p.Phe123Leu)
5	g.151266811T>C	CA447180334	GM2A	c.324T>C (p.Phe108=) c.199T>C c.369T>C (p.Phe123=)	gnomAD v4
5	g.151266811T>G	CA361807956	GM2A	c.324T>G (p.Phe108Leu) c.199T>G c.369T>G (p.Phe123Leu)
5	g.151266812G>A	CA361807957	GM2A	c.325G>A (p.Glu109Lys) c.200G>A c.370G>A (p.Glu124Lys)
5	g.151266812G>C	CA361807958	GM2A	c.325G>C (p.Glu109Gln) c.200G>C c.370G>C (p.Glu124Gln)
5	g.151266812G>T	CA361807959	GM2A	c.325G>T (p.Glu109Ter) c.200G>T c.370G>T (p.Glu124Ter)
5	g.151266813A=	CA1591314950	GM2A	c.326A= (p.Glu109=) c.201A= c.371A= (p.Glu124=)
5	g.151266813A>C	CA361807961	GM2A	c.326A>C (p.Glu109Ala) c.201A>C c.371A>C (p.Glu124Ala)
5	g.151266813A>G	CA361807962	GM2A	c.326A>G (p.Glu109Gly) c.201A>G c.371A>G (p.Glu124Gly)
5	g.151266813A>T	CA361807960	GM2A	c.326A>T (p.Glu109Val) c.201A>T c.371A>T (p.Glu124Val)	dbSNP
5	g.151266814A=	CA1591314951	GM2A	c.327A= (p.Glu109=) c.202A= c.372A= (p.Glu124=)
5	g.151266814A>C	CA361807964	GM2A	c.327A>C (p.Glu109Asp) c.202A>C c.372A>C (p.Glu124Asp)
5	g.151266814A>G	CA3517928	GM2A	c.327A>G (p.Glu109=) c.202A>G c.372A>G (p.Glu124=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266814A>T	CA361807963	GM2A	c.327A>T (p.Glu109Asp) c.202A>T c.372A>T (p.Glu124Asp)
5	g.151266815C>A	CA361807965	GM2A	c.328C>A (p.His110Asn) c.203C>A c.373C>A (p.His125Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266815C=	CA1591314952	GM2A	c.328C= (p.His110=) c.203C= c.373C= (p.His125=)
5	g.151266815C>G	CA361807966	GM2A	c.328C>G (p.His110Asp) c.203C>G c.373C>G (p.His125Asp)
5	g.151266815C>T	CA361807967	GM2A	c.328C>T (p.His110Tyr) c.203C>T c.373C>T (p.His125Tyr)
5	g.151266816A>C	CA361807968	GM2A	c.329A>C (p.His110Pro) c.204A>C c.374A>C (p.His125Pro)
5	g.151266816A>G	CA361807969	GM2A	c.329A>G (p.His110Arg) c.204A>G c.374A>G (p.His125Arg)
5	g.151266816A>T	CA361807970	GM2A	c.329A>T (p.His110Leu) c.204A>T c.374A>T (p.His125Leu)
5	g.151266817C>A	CA361807971	GM2A	c.330C>A (p.His110Gln) c.205C>A c.375C>A (p.His125Gln)
5	g.151266817C>G	CA361807972	GM2A	c.330C>G (p.His110Gln) c.205C>G c.375C>G (p.His125Gln)
5	g.151266817C>T	CA447180337	GM2A	c.330C>T (p.His110=) c.205C>T c.375C>T (p.His125=)
5	g.151266818T>A	CA361807973	GM2A	c.331T>A (p.Phe111Ile) c.206T>A c.376T>A (p.Phe126Ile)
5	g.151266818T>C	CA361807974	GM2A	c.331T>C (p.Phe111Leu) c.206T>C c.376T>C (p.Phe126Leu)
5	g.151266818T>G	CA361807975	GM2A	c.331T>G (p.Phe111Val) c.206T>G c.376T>G (p.Phe126Val)
5	g.151266819T>A	CA361807976	GM2A	c.332T>A (p.Phe111Tyr) c.207T>A c.377T>A (p.Phe126Tyr)
5	g.151266819T>C	CA361807978	GM2A	c.332T>C (p.Phe111Ser) c.207T>C c.377T>C (p.Phe126Ser)
5	g.151266819T>G	CA361807977	GM2A	c.332T>G (p.Phe111Cys) c.207T>G c.377T>G (p.Phe126Cys)
5	g.151266819_151266820delinsTC	CA1591314953	GM2A	c.332_333delinsTC (p.Phe111=) c.207_208delinsTC c.377_378delinsTC (p.Phe126=)
5	g.151266820del	CA267586	GM2A	c.333del (p.Cys112ValfsTer7) c.208del c.378del (p.Cys127ValfsTer7)	ClinVar dbSNP
5	g.151266820C>A	CA361807979	GM2A	c.333C>A (p.Phe111Leu) c.208C>A c.378C>A (p.Phe126Leu)
5	g.151266820C>G	CA361807980	GM2A	c.333C>G (p.Phe111Leu) c.208C>G c.378C>G (p.Phe126Leu)
5	g.151266820C>T	CA447180342	GM2A	c.333C>T (p.Phe111=) c.208C>T c.378C>T (p.Phe126=)
5	g.151266821T>A	CA361807984	GM2A	c.334T>A (p.Cys112Ser) c.209T>A c.379T>A (p.Cys127Ser)
5	g.151266821T>C	CA361807986	GM2A	c.334T>C (p.Cys112Arg) c.209T>C c.379T>C (p.Cys127Arg)
5	g.151266821T>G	CA361807989	GM2A	c.334T>G (p.Cys112Gly) c.209T>G c.379T>G (p.Cys127Gly)
5	g.151266822G>A	CA361807992	GM2A	c.335G>A (p.Cys112Tyr) c.210G>A c.380G>A (p.Cys127Tyr)	COSMIC
5	g.151266822G>C	CA361807994	GM2A	c.335G>C (p.Cys112Ser) c.210G>C c.380G>C (p.Cys127Ser)
5	g.151266822G=	CA1591314954	GM2A	c.335G= (p.Cys112=) c.210G= c.380G= (p.Cys127=)
5	g.151266822G>T	CA3517929	GM2A	c.335G>T (p.Cys112Phe) c.210G>T c.380G>T (p.Cys127Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266823T>A	CA361807998	GM2A	c.336T>A (p.Cys112Ter) c.211T>A c.381T>A (p.Cys127Ter)
5	g.151266823T>C	CA447180349	GM2A	c.336T>C (p.Cys112=) c.211T>C c.381T>C (p.Cys127=)
5	g.151266823T>G	CA361807999	GM2A	c.336T>G (p.Cys112Trp) c.211T>G c.381T>G (p.Cys127Trp)
5	g.151266823_151266829delinsTGATGTG	CA1591314955	GM2A	c.336_342delinsTGATGTG (p.Cys112=) c.211_217delinsTGATGTG c.381_387delinsTGATGTG (p.Cys127=)
5	g.151266824G>A	CA361808004	GM2A	c.337G>A (p.Asp113Asn) c.212G>A c.382G>A (p.Asp128Asn)
5	g.151266824G>C	CA361808006	GM2A	c.337G>C (p.Asp113His) c.212G>C c.382G>C (p.Asp128His)
5	g.151266824G>T	CA361808002	GM2A	c.337G>T (p.Asp113Tyr) c.212G>T c.382G>T (p.Asp128Tyr)
5	g.151266824_151266829del	CA563957704	GM2A	c.337_342del (p.Asp113_Val114del) c.212_217del c.382_387del (p.Asp128_Val129del)	dbSNP gnomAD v2
5	g.151266825A=	CA1591314956	GM2A	c.338A= (p.Asp113=) c.213A= c.383A= (p.Asp128=)
5	g.151266825A>C	CA361808009	GM2A	c.338A>C (p.Asp113Ala) c.213A>C c.383A>C (p.Asp128Ala)	dbSNP gnomAD v3 gnomAD v4
5	g.151266825A>G	CA361808011	GM2A	c.338A>G (p.Asp113Gly) c.213A>G c.383A>G (p.Asp128Gly)
5	g.151266825A>T	CA129899379	GM2A	c.338A>T (p.Asp113Val) c.213A>T c.383A>T (p.Asp128Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266826T>A	CA361808014	GM2A	c.339T>A (p.Asp113Glu) c.214T>A c.384T>A (p.Asp128Glu)	COSMIC
5	g.151266826T>C	CA129899389	GM2A	c.339T>C (p.Asp113=) c.214T>C c.384T>C (p.Asp128=)	dbSNP gnomAD v2 gnomAD v4
5	g.151266826T>G	CA361808017	GM2A	c.339T>G (p.Asp113Glu) c.214T>G c.384T>G (p.Asp128Glu)
5	g.151266826T=	CA1591314957	GM2A	c.339T= (p.Asp113=) c.214T= c.384T= (p.Asp128=)
5	g.151266827G>A	CA361808022	GM2A	c.340G>A (p.Val114Met) c.215G>A c.385G>A (p.Val129Met)	COSMIC
5	g.151266827G>C	CA361808024	GM2A	c.340G>C (p.Val114Leu) c.215G>C c.385G>C (p.Val129Leu)
5	g.151266827G>T	CA361808026	GM2A	c.340G>T (p.Val114Leu) c.215G>T c.385G>T (p.Val129Leu)
5	g.151266828T>A	CA361808030	GM2A	c.341T>A (p.Val114Glu) c.216T>A c.386T>A (p.Val129Glu)
5	g.151266828T>C	CA361808032	GM2A	c.341T>C (p.Val114Ala) c.216T>C c.386T>C (p.Val129Ala)
5	g.151266828T>G	CA361808034	GM2A	c.341T>G (p.Val114Gly) c.216T>G c.386T>G (p.Val129Gly)
5	g.151266829G>A	CA447180353	GM2A	c.342G>A (p.Val114=) c.217G>A c.387G>A (p.Val129=)
5	g.151266829G>C	CA447180354	GM2A	c.342G>C (p.Val114=) c.217G>C c.387G>C (p.Val129=)	ClinVar dbSNP gnomAD v4
5	g.151266829G=	CA1591314958	GM2A	c.342G= (p.Val114=) c.217G= c.387G= (p.Val129=)
5	g.151266829G>T	CA3517930	GM2A	c.342G>T (p.Val114=) c.217G>T c.387G>T (p.Val129=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266830C>A	CA361808041	GM2A	c.343C>A (p.Leu115Ile) c.218C>A c.388C>A (p.Leu130Ile)	dbSNP
5	g.151266830C=	CA1591314959	GM2A	c.343C= (p.Leu115=) c.218C= c.388C= (p.Leu130=)
5	g.151266830C>G	CA361808043	GM2A	c.343C>G (p.Leu115Val) c.218C>G c.388C>G (p.Leu130Val)
5	g.151266830C>T	CA361808038	GM2A	c.343C>T (p.Leu115Phe) c.218C>T c.388C>T (p.Leu130Phe)	gnomAD v4
5	g.151266831T>A	CA361808047	GM2A	c.344T>A (p.Leu115His) c.219T>A c.389T>A (p.Leu130His)
5	g.151266831T>C	CA361808049	GM2A	c.344T>C (p.Leu115Pro) c.219T>C c.389T>C (p.Leu130Pro)
5	g.151266831T>G	CA361808051	GM2A	c.344T>G (p.Leu115Arg) c.219T>G c.389T>G (p.Leu130Arg)
5	g.151266832T>A	CA447180356	GM2A	c.345T>A (p.Leu115=) c.220T>A c.390T>A (p.Leu130=)
5	g.151266832T>C	CA447180358	GM2A	c.345T>C (p.Leu115=) c.220T>C c.390T>C (p.Leu130=)
5	g.151266832T>G	CA447180359	GM2A	c.345T>G (p.Leu115=) c.220T>G c.390T>G (p.Leu130=)
5	g.151266833G>A	CA361808054	GM2A	c.346G>A (p.Asp116Asn) c.221G>A c.391G>A (p.Asp131Asn)
5	g.151266833G>C	CA3517931	GM2A	c.346G>C (p.Asp116His) c.221G>C c.391G>C (p.Asp131His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266833G=	CA1591314960	GM2A	c.346G= (p.Asp116=) c.221G= c.391G= (p.Asp131=)
5	g.151266833G>T	CA361808058	GM2A	c.346G>T (p.Asp116Tyr) c.221G>T c.391G>T (p.Asp131Tyr)
5	g.151266834A>C	CA361808066	GM2A	c.347A>C (p.Asp116Ala) c.222A>C c.392A>C (p.Asp131Ala)
5	g.151266834A>G	CA361808061	GM2A	c.347A>G (p.Asp116Gly) c.222A>G c.392A>G (p.Asp131Gly)
5	g.151266834A>T	CA361808064	GM2A	c.347A>T (p.Asp116Val) c.222A>T c.392A>T (p.Asp131Val)
5	g.151266835C>A	CA361808068	GM2A	c.348C>A (p.Asp116Glu) c.223C>A c.393C>A (p.Asp131Glu)
5	g.151266835C>G	CA361808071	GM2A	c.348C>G (p.Asp116Glu) c.223C>G c.393C>G (p.Asp131Glu)
5	g.151266835C>T	CA447180364	GM2A	c.348C>T (p.Asp116=) c.223C>T c.393C>T (p.Asp131=)
5	g.151266836A=	CA1591314961	GM2A	c.349A= (p.Met117=) c.224A= c.394A= (p.Met132=)
5	g.151266836A>C	CA361808074	GM2A	c.349A>C (p.Met117Leu) c.224A>C c.394A>C (p.Met132Leu)	gnomAD v4
5	g.151266836A>G	CA361808076	GM2A	c.349A>G (p.Met117Val) c.224A>G c.394A>G (p.Met132Val)	dbSNP gnomAD v2 gnomAD v4
5	g.151266836A>T	CA361808079	GM2A	c.349A>T (p.Met117Leu) c.224A>T c.394A>T (p.Met132Leu)
5	g.151266837T>A	CA361808085	GM2A	c.350T>A (p.Met117Lys) c.225T>A c.395T>A (p.Met132Lys)	dbSNP
5	g.151266837T>C	CA361808083	GM2A	c.350T>C (p.Met117Thr) c.225T>C c.395T>C (p.Met132Thr)
5	g.151266837T>G	CA361808081	GM2A	c.350T>G (p.Met117Arg) c.225T>G c.395T>G (p.Met132Arg)
5	g.151266837T=	CA1591314962	GM2A	c.350T= (p.Met117=) c.225T= c.395T= (p.Met132=)
5	g.151266838G>A	CA361808089	GM2A	c.351G>A (p.Met117Ile) c.226G>A c.396G>A (p.Met132Ile)	gnomAD v4
5	g.151266838G>C	CA361808093	GM2A	c.351G>C (p.Met117Ile) c.226G>C c.396G>C (p.Met132Ile)
5	g.151266838G>T	CA361808091	GM2A	c.351G>T (p.Met117Ile) c.226G>T c.396G>T (p.Met132Ile)
5	g.151266839T>A	CA361808096	GM2A	c.352T>A (p.Leu118Ile) c.227T>A c.397T>A (p.Leu133Ile)
5	g.151266839T>C	CA447180369	GM2A	c.352T>C (p.Leu118=) c.227T>C c.397T>C (p.Leu133=)
5	g.151266839T>G	CA361808099	GM2A	c.352T>G (p.Leu118Val) c.227T>G c.397T>G (p.Leu133Val)
5	g.151266840T>A	CA361808101	GM2A	c.353T>A (p.Leu118Ter) c.228T>A c.398T>A (p.Leu133Ter)
5	g.151266840T>C	CA361808103	GM2A	c.353T>C (p.Leu118Ser) c.228T>C c.398T>C (p.Leu133Ser)
5	g.151266840T>G	CA361808105	GM2A	c.353T>G (p.Leu118Ter) c.228T>G c.398T>G (p.Leu133Ter)
5	g.151266841A>C	CA361808108	GM2A	c.354A>C (p.Leu118Phe) c.229A>C c.399A>C (p.Leu133Phe)
5	g.151266841A>G	CA447180375	GM2A	c.354A>G (p.Leu118=) c.229A>G c.399A>G (p.Leu133=)
5	g.151266841A>T	CA361808111	GM2A	c.354A>T (p.Leu118Phe) c.229A>T c.399A>T (p.Leu133Phe)
5	g.151266842A>C	CA361808114	GM2A	c.355A>C (p.Ile119Leu) c.230A>C c.400A>C (p.Ile134Leu)
5	g.151266842A>G	CA361808116	GM2A	c.355A>G (p.Ile119Val) c.230A>G c.400A>G (p.Ile134Val)
5	g.151266842A>T	CA361808118	GM2A	c.355A>T (p.Ile119Phe) c.230A>T c.400A>T (p.Ile134Phe)
5	g.151266843T>A	CA361808121	GM2A	c.356T>A (p.Ile119Asn) c.231T>A c.401T>A (p.Ile134Asn)
5	g.151266843T>C	CA361808123	GM2A	c.356T>C (p.Ile119Thr) c.231T>C c.401T>C (p.Ile134Thr)
5	g.151266843T>G	CA361808125	GM2A	c.356T>G (p.Ile119Ser) c.231T>G c.401T>G (p.Ile134Ser)
5	g.151266844T>A	CA447180376	GM2A	c.357T>A (p.Ile119=) c.232T>A c.402T>A (p.Ile134=)
5	g.151266844T>C	CA447180377	GM2A	c.357T>C (p.Ile119=) c.232T>C c.402T>C (p.Ile134=)
5	g.151266844T>G	CA361808128	GM2A	c.357T>G (p.Ile119Met) c.232T>G c.402T>G (p.Ile134Met)
5	g.151266845C>A	CA361808136	GM2A	c.358C>A (p.Pro120Thr) c.233C>A c.403C>A (p.Pro135Thr)
5	g.151266845C>G	CA361808131	GM2A	c.358C>G (p.Pro120Ala) c.233C>G c.403C>G (p.Pro135Ala)
5	g.151266845C>T	CA361808133	GM2A	c.358C>T (p.Pro120Ser) c.233C>T c.403C>T (p.Pro135Ser)
5	g.151266846C>A	CA361808139	GM2A	c.359C>A (p.Pro120His) c.234C>A c.404C>A (p.Pro135His)
5	g.151266846C>G	CA361808141	GM2A	c.359C>G (p.Pro120Arg) c.234C>G c.404C>G (p.Pro135Arg)
5	g.151266846C>T	CA361808143	GM2A	c.359C>T (p.Pro120Leu) c.234C>T c.404C>T (p.Pro135Leu)
5	g.151266847T>A	CA447180382	GM2A	c.360T>A (p.Pro120=) c.235T>A c.405T>A (p.Pro135=)
5	g.151266847T>C	CA447180383	GM2A	c.360T>C (p.Pro120=) c.235T>C c.405T>C (p.Pro135=)
5	g.151266847T>G	CA447180385	GM2A	c.360T>G (p.Pro120=) c.235T>G c.405T>G (p.Pro135=)
5	g.151266848A=	CA1591314963	GM2A	c.361A= (p.Thr121=) c.236A= c.406A= (p.Thr136=)
5	g.151266848A>C	CA361808150	GM2A	c.361A>C (p.Thr121Pro) c.236A>C c.406A>C (p.Thr136Pro)
5	g.151266848A>G	CA3517932	GM2A	c.361A>G (p.Thr121Ala) c.236A>G c.406A>G (p.Thr136Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266848A>T	CA361808146	GM2A	c.361A>T (p.Thr121Ser) c.236A>T c.406A>T (p.Thr136Ser)
5	g.151266849C>A	CA361808154	GM2A	c.362C>A (p.Thr121Asn) c.237C>A c.407C>A (p.Thr136Asn)
5	g.151266849C>G	CA361808157	GM2A	c.362C>G (p.Thr121Ser) c.237C>G c.407C>G (p.Thr136Ser)
5	g.151266849C>T	CA361808159	GM2A	c.362C>T (p.Thr121Ile) c.237C>T c.407C>T (p.Thr136Ile)
5	g.151266850T>A	CA447180387	GM2A	c.363T>A (p.Thr121=) c.238T>A c.408T>A (p.Thr136=)
5	g.151266850T>C	CA447180388	GM2A	c.363T>C (p.Thr121=) c.238T>C c.408T>C (p.Thr136=)	gnomAD v4
5	g.151266850T>G	CA447180389	GM2A	c.363T>G (p.Thr121=) c.238T>G c.408T>G (p.Thr136=)	gnomAD v4
5	g.151266850_151266851delinsTG	CA1591314964	GM2A	c.363_364delinsTG (p.Thr121=) c.238_239delinsTG c.408_409delinsTG (p.Thr136=)
5	g.151266851G>A	CA361808162	GM2A	c.364G>A (p.Gly122Arg) c.239G>A c.409G>A (p.Gly137Arg)	ClinVar gnomAD v4
5	g.151266851G>C	CA361808164	GM2A	c.364G>C (p.Gly122Arg) c.239G>C c.409G>C (p.Gly137Arg)
5	g.151266851G>T	CA361808167	GM2A	c.364G>T (p.Gly122Trp) c.239G>T c.409G>T (p.Gly137Trp)
5	g.151266854del	CA563957705	GM2A	c.367del (p.Glu123SerfsTer?) c.242del c.412del (p.Glu138SerfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
5	g.151266852G>A	CA361808170	GM2A	c.365G>A (p.Gly122Glu) c.240G>A c.410G>A (p.Gly137Glu)	dbSNP gnomAD v4
5	g.151266852G>C	CA361808174	GM2A	c.365G>C (p.Gly122Ala) c.240G>C c.410G>C (p.Gly137Ala)
5	g.151266852G=	CA1591314965	GM2A	c.365G= (p.Gly122=) c.240G= c.410G= (p.Gly137=)
5	g.151266852G>T	CA361808172	GM2A	c.365G>T (p.Gly122Val) c.240G>T c.410G>T (p.Gly137Val)
5	g.151266853G>A	CA447180394	GM2A	c.366G>A (p.Gly122=) c.241G>A c.411G>A (p.Gly137=)	gnomAD v4
5	g.151266853G>C	CA447180392	GM2A	c.366G>C (p.Gly122=) c.241G>C c.411G>C (p.Gly137=)
5	g.151266853G>T	CA447180393	GM2A	c.366G>T (p.Gly122=) c.241G>T c.411G>T (p.Gly137=)
5	g.151266854G>A	CA361808178	GM2A	c.367G>A (p.Glu123Lys) c.242G>A c.412G>A (p.Glu138Lys)	dbSNP gnomAD v4
5	g.151266854G>C	CA361808182	GM2A	c.367G>C (p.Glu123Gln) c.242G>C c.412G>C (p.Glu138Gln)
5	g.151266854G=	CA1591314966	GM2A	c.367G= (p.Glu123=) c.242G= c.412G= (p.Glu138=)
5	g.151266854G>T	CA361808180	GM2A	c.367G>T (p.Glu123Ter) c.242G>T c.412G>T (p.Glu138Ter)
5	g.151266855A>C	CA361808186	GM2A	c.368A>C (p.Glu123Ala) c.243A>C c.413A>C (p.Glu138Ala)
5	g.151266855A>G	CA361808188	GM2A	c.368A>G (p.Glu123Gly) c.243A>G c.413A>G (p.Glu138Gly)
5	g.151266855A>T	CA361808190	GM2A	c.368A>T (p.Glu123Val) c.243A>T c.413A>T (p.Glu138Val)
5	g.151266856G>A	CA447180397	GM2A	c.369G>A (p.Glu123=) c.244G>A c.414G>A (p.Glu138=)
5	g.151266856G>C	CA361808194	GM2A	c.369G>C (p.Glu123Asp) c.244G>C c.414G>C (p.Glu138Asp)
5	g.151266856G>T	CA361808195	GM2A	c.369G>T (p.Glu123Asp) c.244G>T c.414G>T (p.Glu138Asp)
5	g.151266856_151266858delinsTAA	CA2573130406	GM2A	c.369_371delinsTAA (p.Glu123_Pro124delinsAspAsn) c.244_246delinsTAA c.414_416delinsTAA (p.Glu138_Pro139delinsAspAsn)
5	g.151266856_151266858delinsATTAA	CA2695202756	GM2A	c.369_371delinsATTAA (p.Pro124LeufsTer?) c.244_246delinsATTAA c.414_416delinsATTAA (p.Pro139LeufsTer?)
5	g.151266857C>A	CA361808199	GM2A	c.370C>A (p.Pro124Thr) c.245C>A c.415C>A (p.Pro139Thr)
5	g.151266857C>G	CA361808201	GM2A	c.370C>G (p.Pro124Ala) c.245C>G c.415C>G (p.Pro139Ala)	gnomAD v4
5	g.151266857C>T	CA361808203	GM2A	c.370C>T (p.Pro124Ser) c.245C>T c.415C>T (p.Pro139Ser)
5	g.151266863_151266875del	CA2578457883	GM2A	c.376_388del (p.Pro126ValfsTer?) c.251_263del c.421_433del (p.Pro141ValfsTer?)
5	g.151266858C>A	CA361808206	GM2A	c.371C>A (p.Pro124His) c.246C>A c.416C>A (p.Pro139His)
5	g.151266858C>G	CA361808208	GM2A	c.371C>G (p.Pro124Arg) c.246C>G c.416C>G (p.Pro139Arg)
5	g.151266858C>T	CA361808211	GM2A	c.371C>T (p.Pro124Leu) c.246C>T c.416C>T (p.Pro139Leu)	gnomAD v4
5	g.151266859C>A	CA447180402	GM2A	c.372C>A (p.Pro124=) c.247C>A c.417C>A (p.Pro139=)
5	g.151266859C>G	CA447180401	GM2A	c.372C>G (p.Pro124=) c.247C>G c.417C>G (p.Pro139=)
5	g.151266859C>T	CA447180403	GM2A	c.372C>T (p.Pro124=) c.247C>T c.417C>T (p.Pro139=)
5	g.151266860T>A	CA361808218	GM2A	c.373T>A (p.Cys125Ser) c.248T>A c.418T>A (p.Cys140Ser)
5	g.151266860T>C	CA361808216	GM2A	c.373T>C (p.Cys125Arg) c.248T>C c.418T>C (p.Cys140Arg)
5	g.151266860T>G	CA361808215	GM2A	c.373T>G (p.Cys125Gly) c.248T>G c.418T>G (p.Cys140Gly)
5	g.151266861G>A	CA361808221	GM2A	c.374G>A (p.Cys125Tyr) c.249G>A c.419G>A (p.Cys140Tyr)
5	g.151266861G>C	CA361808223	GM2A	c.374G>C (p.Cys125Ser) c.249G>C c.419G>C (p.Cys140Ser)
5	g.151266861G>T	CA361808226	GM2A	c.374G>T (p.Cys125Phe) c.249G>T c.419G>T (p.Cys140Phe)
5	g.151266862C>A	CA361808229	GM2A	c.375C>A (p.Cys125Ter) c.250C>A c.420C>A (p.Cys140Ter)
5	g.151266862C=	CA1591314967	GM2A	c.375C= (p.Cys125=) c.250C= c.420C= (p.Cys140=)
5	g.151266862C>G	CA361808231	GM2A	c.375C>G (p.Cys125Trp) c.250C>G c.420C>G (p.Cys140Trp)
5	g.151266862C>T	CA3517933	GM2A	c.375C>T (p.Cys125=) c.250C>T c.420C>T (p.Cys140=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266863C>A	CA129899438	GM2A	c.376C>A (p.Pro126Thr) c.251C>A c.421C>A (p.Pro141Thr)	dbSNP gnomAD v2 gnomAD v4
5	g.151266863C=	CA1591314968	GM2A	c.376C= (p.Pro126=) c.251C= c.421C= (p.Pro141=)
5	g.151266863C>G	CA3517934	GM2A	c.376C>G (p.Pro126Ala) c.251C>G c.421C>G (p.Pro141Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266863C>T	CA361808239	GM2A	c.376C>T (p.Pro126Ser) c.251C>T c.421C>T (p.Pro141Ser)
5	g.151266864C>A	CA361808242	GM2A	c.377C>A (p.Pro126Gln) c.252C>A c.422C>A (p.Pro141Gln)
5	g.151266864C>G	CA361808244	GM2A	c.377C>G (p.Pro126Arg) c.252C>G c.422C>G (p.Pro141Arg)
5	g.151266864C>T	CA361808245	GM2A	c.377C>T (p.Pro126Leu) c.252C>T c.422C>T (p.Pro141Leu)
5	g.151266865A>C	CA447180408	GM2A	c.378A>C (p.Pro126=) c.253A>C c.423A>C (p.Pro141=)
5	g.151266865A>G	CA447180410	GM2A	c.378A>G (p.Pro126=) c.253A>G c.423A>G (p.Pro141=)	gnomAD v4
5	g.151266865A>T	CA447180412	GM2A	c.378A>T (p.Pro126=) c.253A>T c.423A>T (p.Pro141=)
5	g.151266866G>A	CA361808248	GM2A	c.379G>A (p.Glu127Lys) c.254G>A c.424G>A (p.Glu142Lys)	ClinVar dbSNP
5	g.151266866G>C	CA361808252	GM2A	c.379G>C (p.Glu127Gln) c.254G>C c.424G>C (p.Glu142Gln)
5	g.151266866G=	CA1591314969	GM2A	c.379G= (p.Glu127=) c.254G= c.424G= (p.Glu142=)
5	g.151266866G>T	CA361808249	GM2A	c.379G>T (p.Glu127Ter) c.254G>T c.424G>T (p.Glu142Ter)
5	g.151266867A>C	CA361808253	GM2A	c.380A>C (p.Glu127Ala) c.255A>C c.425A>C (p.Glu142Ala)
5	g.151266867A>G	CA361808255	GM2A	c.380A>G (p.Glu127Gly) c.255A>G c.425A>G (p.Glu142Gly)	gnomAD v4
5	g.151266867A>T	CA361808257	GM2A	c.380A>T (p.Glu127Val) c.255A>T c.425A>T (p.Glu142Val)
5	g.151266868G>A	CA447180427	GM2A	c.381G>A (p.Glu127=) c.256G>A c.426G>A (p.Glu142=)	ClinVar
5	g.151266868G>C	CA361808259	GM2A	c.381G>C (p.Glu127Asp) c.256G>C c.426G>C (p.Glu142Asp)
5	g.151266868G>T	CA361808261	GM2A	c.381G>T (p.Glu127Asp) c.256G>T c.426G>T (p.Glu142Asp)
5	g.151266869C>A	CA361808264	GM2A	c.382C>A (p.Pro128Thr) c.257C>A c.427C>A (p.Pro143Thr)
5	g.151266869C>G	CA361808267	GM2A	c.382C>G (p.Pro128Ala) c.257C>G c.427C>G (p.Pro143Ala)
5	g.151266869C>T	CA361808269	GM2A	c.382C>T (p.Pro128Ser) c.257C>T c.427C>T (p.Pro143Ser)
5	g.151266870C>A	CA361808272	GM2A	c.383C>A (p.Pro128His) c.258C>A c.428C>A (p.Pro143His)	dbSNP gnomAD v4
5	g.151266870C=	CA1591314970	GM2A	c.383C= (p.Pro128=) c.258C= c.428C= (p.Pro143=)
5	g.151266870C>G	CA361808276	GM2A	c.383C>G (p.Pro128Arg) c.258C>G c.428C>G (p.Pro143Arg)
5	g.151266870C>T	CA361808274	GM2A	c.383C>T (p.Pro128Leu) c.258C>T c.428C>T (p.Pro143Leu)	dbSNP gnomAD v2 gnomAD v4
5	g.151266871C>A	CA3517935	GM2A	c.384C>A (p.Pro128=) c.259C>A c.429C>A (p.Pro143=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266871C=	CA1591314971	GM2A	c.384C= (p.Pro128=) c.259C= c.429C= (p.Pro143=)
5	g.151266871C>G	CA3517936	GM2A	c.384C>G (p.Pro128=) c.259C>G c.429C>G (p.Pro143=)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266871C>T	CA447180448	GM2A	c.384C>T (p.Pro128=) c.259C>T c.429C>T (p.Pro143=)	COSMIC
5	g.151266872C>A	CA361808282	GM2A	c.385C>A (p.Leu129Met) c.260C>A c.430C>A (p.Leu144Met)
5	g.151266872C>G	CA361808283	GM2A	c.385C>G (p.Leu129Val) c.260C>G c.430C>G (p.Leu144Val)
5	g.151266872C>T	CA447180452	GM2A	c.385C>T (p.Leu129=) c.260C>T c.430C>T (p.Leu144=)	gnomAD v4 COSMIC
5	g.151266873T>A	CA361808286	GM2A	c.386T>A (p.Leu129Gln) c.261T>A c.431T>A (p.Leu144Gln)
5	g.151266873T>C	CA361808290	GM2A	c.386T>C (p.Leu129Pro) c.261T>C c.431T>C (p.Leu144Pro)	COSMIC
5	g.151266873T>G	CA361808288	GM2A	c.386T>G (p.Leu129Arg) c.261T>G c.431T>G (p.Leu144Arg)
5	g.151266874G>A	CA447180466	GM2A	c.387G>A (p.Leu129=) c.262G>A c.432G>A (p.Leu144=)
5	g.151266874G>C	CA447180467	GM2A	c.387G>C (p.Leu129=) c.262G>C c.432G>C (p.Leu144=)
5	g.151266874G>T	CA447180470	GM2A	c.387G>T (p.Leu129=) c.262G>T c.432G>T (p.Leu144=)
5	g.151266875C>A	CA361808291	GM2A	c.388C>A (p.Arg130Ser) c.263C>A c.433C>A (p.Arg145Ser)	gnomAD v4
5	g.151266875C=	CA1591314972	GM2A	c.388C= (p.Arg130=) c.263C= c.433C= (p.Arg145=)
5	g.151266875C>G	CA361808293	GM2A	c.388C>G (p.Arg130Gly) c.263C>G c.433C>G (p.Arg145Gly)	dbSNP gnomAD v2 gnomAD v4
5	g.151266875C>T	CA3517937	GM2A	c.388C>T (p.Arg130Cys) c.263C>T c.433C>T (p.Arg145Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266876G>A	CA3517938	GM2A	c.389G>A (p.Arg130His) c.264G>A c.434G>A (p.Arg145His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266876G>C	CA361808299	GM2A	c.389G>C (p.Arg130Pro) c.264G>C c.434G>C (p.Arg145Pro)	dbSNP gnomAD v4
5	g.151266876G=	CA1591314973	GM2A	c.389G= (p.Arg130=) c.264G= c.434G= (p.Arg145=)
5	g.151266876G>T	CA361808302	GM2A	c.389G>T (p.Arg130Leu) c.264G>T c.434G>T (p.Arg145Leu)
5	g.151266877T>A	CA447180485	GM2A	c.390T>A (p.Arg130=) c.265T>A c.435T>A (p.Arg145=)
5	g.151266877T>C	CA447180487	GM2A	c.390T>C (p.Arg130=) c.265T>C c.435T>C (p.Arg145=)	dbSNP gnomAD v3 gnomAD v4
5	g.151266877T>G	CA447180489	GM2A	c.390T>G (p.Arg130=) c.265T>G c.435T>G (p.Arg145=)
5	g.151266877T=	CA1591314974	GM2A	c.390T= (p.Arg130=) c.265T= c.435T= (p.Arg145=)
5	g.151266878A>C	CA361808305	GM2A	c.391A>C (p.Thr131Pro) c.266A>C c.436A>C (p.Thr146Pro)
5	g.151266878A>G	CA361808307	GM2A	c.391A>G (p.Thr131Ala) c.266A>G c.436A>G (p.Thr146Ala)
5	g.151266878A>T	CA361808309	GM2A	c.391A>T (p.Thr131Ser) c.266A>T c.436A>T (p.Thr146Ser)	gnomAD v4
5	g.151266879C>A	CA361808313	GM2A	c.392C>A (p.Thr131Asn) c.267C>A c.437C>A (p.Thr146Asn)
5	g.151266879C>G	CA361808315	GM2A	c.392C>G (p.Thr131Ser) c.267C>G c.437C>G (p.Thr146Ser)
5	g.151266879C>T	CA361808317	GM2A	c.392C>T (p.Thr131Ile) c.267C>T c.437C>T (p.Thr146Ile)
5	g.151266880C>A	CA447180506	GM2A	c.393C>A (p.Thr131=) c.268C>A c.438C>A (p.Thr146=)
5	g.151266880C>G	CA447180509	GM2A	c.393C>G (p.Thr131=) c.268C>G c.438C>G (p.Thr146=)
5	g.151266880C>T	CA447180504	GM2A	c.393C>T (p.Thr131=) c.268C>T c.438C>T (p.Thr146=)
5	g.151266881T>A	CA361808320	GM2A	c.394T>A (p.Tyr132Asn) c.269T>A
5	g.151266881T>C	CA3517939	GM2A	c.394T>C (p.Tyr132His) c.269T>C	dbSNP ExAC gnomAD v3 gnomAD v4
5	g.151266881T>G	CA361808322	GM2A	c.394T>G (p.Tyr132Asp) c.269T>G
5	g.151266881T=	CA1591314975	GM2A	c.394T= (p.Tyr132=) c.269T=
5	g.151266882A=	CA1591314976	GM2A	c.395A= (p.Tyr132=) c.270A=
5	g.151266882A>C	CA361808326	GM2A	c.395A>C (p.Tyr132Ser) c.270A>C
5	g.151266882A>G	CA3517941	GM2A	c.395A>G (p.Tyr132Cys) c.270A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266882A>T	CA3517940	GM2A	c.395A>T (p.Tyr132Phe) c.270A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266883T>A	CA361808331	GM2A	c.396T>A (p.Tyr132Ter) c.271T>A
5	g.151266883T>C	CA447180527	GM2A	c.396T>C (p.Tyr132=) c.271T>C
5	g.151266883T>G	CA361808333	GM2A	c.396T>G (p.Tyr132Ter) c.271T>G
5	g.151266884G>A	CA361808340	GM2A	c.397G>A (p.Gly133Arg) c.272G>A
5	g.151266884G>C	CA361808338	GM2A	c.397G>C (p.Gly133Arg) c.272G>C
5	g.151266884G>T	CA361808336	GM2A	c.397G>T (p.Gly133Trp) c.272G>T
5	g.151266885G>A	CA361808342	GM2A	c.398G>A (p.Gly133Glu) c.273G>A
5	g.151266885G>C	CA361808343	GM2A	c.398G>C (p.Gly133Ala) c.273G>C
5	g.151266885G>T	CA361808344	GM2A	c.398G>T (p.Gly133Val) c.273G>T
5	g.151266886G>A	CA447180547	GM2A	c.399G>A (p.Gly133=) c.274G>A	gnomAD v4
5	g.151266886G>C	CA447180549	GM2A	c.399G>C (p.Gly133=) c.274G>C
5	g.151266886G>T	CA447180552	GM2A	c.399G>T (p.Gly133=) c.274G>T
5	g.151266887C>A	CA361808345	GM2A	c.400C>A (p.Leu134Ile) c.275C>A
5	g.151266887C>G	CA361808346	GM2A	c.400C>G (p.Leu134Val) c.275C>G
5	g.151266887C>T	CA361808347	GM2A	c.400C>T (p.Leu134Phe) c.275C>T
5	g.151266888T>A	CA361808348	GM2A	c.401T>A (p.Leu134His) c.276T>A
5	g.151266888T>C	CA361808350	GM2A	c.401T>C (p.Leu134Pro) c.276T>C
5	g.151266888T>G	CA361808349	GM2A	c.401T>G (p.Leu134Arg) c.276T>G
5	g.151266889T>A	CA447180567	GM2A	c.402T>A (p.Leu134=) c.277T>A
5	g.151266889T>C	CA447180573	GM2A	c.402T>C (p.Leu134=) c.277T>C
5	g.151266889T>G	CA3517942	GM2A	c.402T>G (p.Leu134=) c.277T>G	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266889T=	CA1591314977	GM2A	c.402T= (p.Leu134=) c.277T=
5	g.151266890C>A	CA361808351	GM2A	c.403C>A (p.Pro135Thr) c.278C>A	gnomAD v4
5	g.151266890C=	CA1591314978	GM2A	c.403C= (p.Pro135=) c.278C=
5	g.151266890C>G	CA361808352	GM2A	c.403C>G (p.Pro135Ala) c.278C>G
5	g.151266890C>T	CA129899448	GM2A	c.403C>T (p.Pro135Ser) c.278C>T	dbSNP gnomAD v4
5	g.151266891C>A	CA361808353	GM2A	c.404C>A (p.Pro135His) c.279C>A
5	g.151266891C>G	CA361808354	GM2A	c.404C>G (p.Pro135Arg) c.279C>G	gnomAD v4
5	g.151266891C>T	CA361808355	GM2A	c.404C>T (p.Pro135Leu) c.279C>T	dbSNP
5	g.151266892T>A	CA447180589	GM2A	c.405T>A (p.Pro135=) c.280T>A
5	g.151266892T>C	CA447180592	GM2A	c.405T>C (p.Pro135=) c.280T>C
5	g.151266892T>G	CA447180594	GM2A	c.405T>G (p.Pro135=) c.280T>G
5	g.151266893T>A	CA361808356	GM2A	c.406T>A (p.Cys136Ser) c.281T>A
5	g.151266893T>C	CA361808357	GM2A	c.406T>C (p.Cys136Arg) c.281T>C
5	g.151266893T>G	CA361808358	GM2A	c.406T>G (p.Cys136Gly) c.281T>G
5	g.151266894G>A	CA361808361	GM2A	c.407G>A (p.Cys136Tyr) c.282G>A
5	g.151266894G>C	CA361808359	GM2A	c.407G>C (p.Cys136Ser) c.282G>C
5	g.151266894G>T	CA361808360	GM2A	c.407G>T (p.Cys136Phe) c.282G>T
5	g.151266895C>A	CA361808362	GM2A	c.408C>A (p.Cys136Ter) c.283C>A
5	g.151266895C>G	CA361808363	GM2A	c.408C>G (p.Cys136Trp) c.283C>G
5	g.151266895C>T	CA447180613	GM2A	c.408C>T (p.Cys136=) c.283C>T
5	g.151266896C>A	CA361808364	GM2A	c.409C>A (p.His137Asn) c.284C>A
5	g.151266896C>G	CA361808365	GM2A	c.409C>G (p.His137Asp) c.284C>G
5	g.151266896C>T	CA361808366	GM2A	c.409C>T (p.His137Tyr) c.284C>T
5	g.151266897del	CA2499217747	GM2A	c.410del (p.His137ProfsTer?) c.285del c.410del (p.His137ProfsTer27)	ClinVar dbSNP
5	g.151266897A=	CA1591314979	GM2A	c.410A= (p.His137=) c.285A=
5	g.151266897A>C	CA361808367	GM2A	c.410A>C (p.His137Pro) c.285A>C
5	g.151266897A>G	CA3517943	GM2A	c.410A>G (p.His137Arg) c.285A>G	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266897A>T	CA361808368	GM2A	c.410A>T (p.His137Leu) c.285A>T
5	g.151266898C>A	CA361808369	GM2A	c.411C>A (p.His137Gln) c.286C>A
5	g.151266898C>G	CA361808370	GM2A	c.411C>G (p.His137Gln) c.286C>G
5	g.151266898C>T	CA447180631	GM2A	c.411C>T (p.His137=) c.286C>T
5	g.151266899T>A	CA361808371	GM2A	c.412T>A (p.Cys138Ser) c.287T>A
5	g.151266899T>C	CA114233	GM2A	c.412T>C (p.Cys138Arg) c.287T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5	g.151266899T>G	CA361808372	GM2A	c.412T>G (p.Cys138Gly) c.287T>G
5	g.151266899T=	CA1591314980	GM2A	c.412T= (p.Cys138=) c.287T=
5	g.151266900G>A	CA361808373	GM2A	c.413G>A (p.Cys138Tyr) c.288G>A c.412+1G>A (n.412+1G>A)	ClinVar dbSNP
5	g.151266900G>C	CA361808374	GM2A	c.413G>C (p.Cys138Ser) c.288G>C c.412+1G>C (n.412+1G>C)	dbSNP gnomAD v2 gnomAD v4
5	g.151266900G=	CA1591314981	GM2A	c.413G= (p.Cys138=) c.288G= c.412+1G= (n.412+1G=)
5	g.151266900G>T	CA361808375	GM2A	c.413G>T (p.Cys138Phe) c.288G>T c.412+1G>T (n.412+1G>T)
5	g.151266901T>A	CA361808377	GM2A	c.414T>A (p.Cys138Ter) c.289T>A c.412+2T>A (n.412+2T>A)
5	g.151266901T>C	CA447180651	GM2A	c.414T>C (p.Cys138=) c.289T>C c.412+2T>C (n.412+2T>C)
5	g.151266901T>G	CA361808376	GM2A	c.414T>G (p.Cys138Trp) c.289T>G c.412+2T>G (n.412+2T>G)
5	g.151266902C>A	CA3517944	GM2A	c.415C>A (p.Pro139Thr) c.290C>A c.412+3C>A (n.412+3C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266902C=	CA1591314982	GM2A	c.415C= (p.Pro139=) c.290C= c.412+3C= (n.412+3C=)
5	g.151266902C>G	CA361808378	GM2A	c.415C>G (p.Pro139Ala) c.290C>G c.412+3C>G (n.412+3C>G)	dbSNP gnomAD v2 gnomAD v4
5	g.151266902C>T	CA3517945	GM2A	c.415C>T (p.Pro139Ser) c.290C>T c.412+3C>T (n.412+3C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266903C>A	CA361808379	GM2A	c.416C>A (p.Pro139His) c.291C>A c.412+4C>A (n.412+4C>A)
5	g.151266903C>G	CA361808380	GM2A	c.416C>G (p.Pro139Arg) c.291C>G c.412+4C>G (n.412+4C>G)
5	g.151266903C>T	CA361808381	GM2A	c.416C>T (p.Pro139Leu) c.291C>T c.412+4C>T (n.412+4C>T)	gnomAD v4
5	g.151266904C>A	CA447180669	GM2A	c.417C>A (p.Pro139=) c.292C>A c.412+5C>A (n.412+5C>A)
5	g.151266904C>G	CA447180674	GM2A	c.417C>G (p.Pro139=) c.292C>G c.412+5C>G (n.412+5C>G)
5	g.151266904C>T	CA447180671	GM2A	c.417C>T (p.Pro139=) c.292C>T c.412+5C>T (n.412+5C>T)
5	g.151266905T>A	CA361808383	GM2A	c.418T>A (p.Phe140Ile) c.293T>A c.412+6T>A (n.412+6T>A)
5	g.151266905T>C	CA361808382	GM2A	c.418T>C (p.Phe140Leu) c.293T>C c.412+6T>C (n.412+6T>C)
5	g.151266905T>G	CA3517946	GM2A	c.418T>G (p.Phe140Val) c.293T>G c.412+6T>G (n.412+6T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
5	g.151266905T=	CA1591314983	GM2A	c.418T= (p.Phe140=) c.293T= c.412+6T= (n.412+6T=)
5	g.151266906T>A	CA361808384	GM2A	c.419T>A (p.Phe140Tyr) c.294T>A c.412+7T>A (n.412+7T>A)
5	g.151266906T>C	CA361808385	GM2A	c.419T>C (p.Phe140Ser) c.294T>C c.412+7T>C (n.412+7T>C)
5	g.151266906T>G	CA361808386	GM2A	c.419T>G (p.Phe140Cys) c.294T>G c.412+7T>G (n.412+7T>G)
5	g.151266907C>A	CA361808387	GM2A	c.420C>A (p.Phe140Leu) c.295C>A c.412+8C>A (n.412+8C>A)	gnomAD v4
5	g.151266907C>G	CA361808388	GM2A	c.420C>G (p.Phe140Leu) c.295C>G c.412+8C>G (n.412+8C>G)
5	g.151266907C>T	CA447180693	GM2A	c.420C>T (p.Phe140=) c.295C>T c.412+8C>T (n.412+8C>T)
5	g.151266908A=	CA1591314984	GM2A	c.421A= (p.Lys141=) c.296A= c.412+9A= (n.412+9A=)
5	g.151266908A>C	CA361808389	GM2A	c.421A>C (p.Lys141Gln) c.296A>C c.412+9A>C (n.412+9A>C)
5	g.151266908A>G	CA361808391	GM2A	c.421A>G (p.Lys141Glu) c.296A>G c.412+9A>G (n.412+9A>G)	dbSNP
5	g.151266908A>T	CA361808390	GM2A	c.421A>T (p.Lys141Ter) c.296A>T c.412+9A>T (n.412+9A>T)
5	g.151266909A>C	CA361808392	GM2A	c.422A>C (p.Lys141Thr) c.297A>C c.412+10A>C (n.412+10A>C)	gnomAD v4
5	g.151266909A>G	CA361808393	GM2A	c.422A>G (p.Lys141Arg) c.297A>G c.412+10A>G (n.412+10A>G)	dbSNP
5	g.151266909A>T	CA361808394	GM2A	c.422A>T (p.Lys141Ile) c.297A>T c.412+10A>T (n.412+10A>T)
5	g.151266912_151266914del	CA2578457884	GM2A	c.425_426+1del c.300_302del c.412+13_412+15del (n.412+13_412+15del)
5	g.151266910A>C	CA361808395	GM2A	c.423A>C (p.Lys141Asn) c.298A>C c.412+11A>C (n.412+11A>C)
5	g.151266910A>G	CA447180719	GM2A	c.423A>G (p.Lys141=) c.298A>G c.412+11A>G (n.412+11A>G)
5	g.151266910A>T	CA361808396	GM2A	c.423A>T (p.Lys141Asn) c.298A>T c.412+11A>T (n.412+11A>T)
5	g.151266911G>A	CA361808399	GM2A	c.424G>A (p.Glu142Lys) c.299G>A c.412+12G>A (n.412+12G>A)	dbSNP gnomAD v4
5	g.151266911G>C	CA361808398	GM2A	c.424G>C (p.Glu142Gln) c.299G>C c.412+12G>C (n.412+12G>C)
5	g.151266911G=	CA1591314986	GM2A	c.424G= (p.Glu142=) c.299G= c.412+12G= (n.412+12G=)
5	g.151266911G>T	CA361808397	GM2A	c.424G>T (p.Glu142Ter) c.299G>T c.412+12G>T (n.412+12G>T)	dbSNP gnomAD v4 COSMIC
5	g.151266911_151266915delinsGAAGT	CA1591314985	GM2A	c.424_426+2delinsGAAGT c.299_303delinsGAAGT c.412+12_412+16delinsGAAGT (n.412+12_412+16delinsGAAGT)

Number of alleles fetched