Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189575193C>ACA117527SLC40A1c.239G>T (p.Gly80Val)
n.680G>T
n.520G>T
c.119G>T (p.Gly40Val)
 ClinVar dbSNP
2g.189575193C=CA1315653665SLC40A1c.239G= (p.Gly80=)
n.680G=
n.520G=
c.119G= (p.Gly40=)
2g.189575193C>GCA349989666SLC40A1c.239G>C (p.Gly80Ala)
n.680G>C
n.520G>C
c.119G>C (p.Gly40Ala)
2g.189575193C>TCA349989667SLC40A1c.239G>A (p.Gly80Asp)
n.680G>A
n.520G>A
c.119G>A (p.Gly40Asp)
2g.189575194C>ACA349989668SLC40A1c.238G>T (p.Gly80Cys)
n.679G>T
n.519G>T
c.118G>T (p.Gly40Cys)
 ClinVar
2g.189575194C=CA1315653669SLC40A1c.238G= (p.Gly80=)
n.679G=
n.519G=
c.118G= (p.Gly40=)
2g.189575194C>GCA349989669SLC40A1c.238G>C (p.Gly80Arg)
n.679G>C
n.519G>C
c.118G>C (p.Gly40Arg)
2g.189575194C>TCA62904035SLC40A1c.238G>A (p.Gly80Ser)
n.679G>A
n.519G>A
c.118G>A (p.Gly40Ser)
 ClinVar dbSNP gnomAD v4
2g.189575195G>ACA2024280SLC40A1c.237C>T (p.Ile79=)
n.678C>T
n.518C>T
c.117C>T (p.Ile39=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189575195G>CCA349989670SLC40A1c.237C>G (p.Ile79Met)
n.678C>G
n.518C>G
c.117C>G (p.Ile39Met)
 dbSNP gnomAD v3 gnomAD v4
2g.189575195G=CA1315653674SLC40A1c.237C= (p.Ile79=)
n.678C=
n.518C=
c.117C= (p.Ile39=)
2g.189575195G>TCA430367502SLC40A1c.237C>A (p.Ile79=)
n.678C>A
n.518C>A
c.117C>A (p.Ile39=)
2g.189575196A>CCA349989671SLC40A1c.236T>G (p.Ile79Ser)
n.677T>G
n.517T>G
c.116T>G (p.Ile39Ser)
2g.189575196A>GCA349989672SLC40A1c.236T>C (p.Ile79Thr)
n.677T>C
n.517T>C
c.116T>C (p.Ile39Thr)
2g.189575196A>TCA349989673SLC40A1c.236T>A (p.Ile79Asn)
n.677T>A
n.517T>A
c.116T>A (p.Ile39Asn)
2g.189575197T>ACA349989676SLC40A1c.235A>T (p.Ile79Phe)
n.676A>T
n.516A>T
c.115A>T (p.Ile39Phe)
2g.189575197T>CCA349989674SLC40A1c.235A>G (p.Ile79Val)
n.676A>G
n.516A>G
c.115A>G (p.Ile39Val)
 ClinVar dbSNP gnomAD v4
2g.189575197T>GCA349989675SLC40A1c.235A>C (p.Ile79Leu)
n.676A>C
n.516A>C
c.115A>C (p.Ile39Leu)
2g.189575197T=CA1315653679SLC40A1c.235A= (p.Ile79=)
n.676A=
n.516A=
c.115A= (p.Ile39=)
2g.189575198G>ACA430367503SLC40A1c.234C>T (p.Ile78=)
n.675C>T
n.515C>T
c.114C>T (p.Ile38=)
 dbSNP
2g.189575198G>CCA349989677SLC40A1c.234C>G (p.Ile78Met)
n.675C>G
n.515C>G
c.114C>G (p.Ile38Met)
2g.189575198G=CA1315653684SLC40A1c.234C= (p.Ile78=)
n.675C=
n.515C=
c.114C= (p.Ile38=)
2g.189575198G>TCA430367504SLC40A1c.234C>A (p.Ile78=)
n.675C>A
n.515C>A
c.114C>A (p.Ile38=)
2g.189575199A>CCA349989678SLC40A1c.233T>G (p.Ile78Ser)
n.674T>G
n.514T>G
c.113T>G (p.Ile38Ser)
2g.189575199A>GCA349989679SLC40A1c.233T>C (p.Ile78Thr)
n.674T>C
n.514T>C
c.113T>C (p.Ile38Thr)
2g.189575199A>TCA349989680SLC40A1c.233T>A (p.Ile78Asn)
n.674T>A
n.514T>A
c.113T>A (p.Ile38Asn)
2g.189575200T>ACA349989681SLC40A1c.232A>T (p.Ile78Phe)
n.673A>T
n.513A>T
c.112A>T (p.Ile38Phe)
2g.189575200T>CCA349989682SLC40A1c.232A>G (p.Ile78Val)
n.673A>G
n.513A>G
c.112A>G (p.Ile38Val)
 gnomAD v4
2g.189575200T>GCA349989683SLC40A1c.232A>C (p.Ile78Leu)
n.673A>C
n.513A>C
c.112A>C (p.Ile38Leu)
2g.189575201G>ACA430367505SLC40A1c.231C>T (p.Ala77=)
n.672C>T
n.512C>T
c.111C>T (p.Ala37=)
2g.189575201G>CCA430367506SLC40A1c.231C>G (p.Ala77=)
n.672C>G
n.512C>G
c.111C>G (p.Ala37=)
2g.189575201G>TCA430367507SLC40A1c.231C>A (p.Ala77=)
n.672C>A
n.512C>A
c.111C>A (p.Ala37=)
2g.189575202G>ACA349989684SLC40A1c.230C>T (p.Ala77Val)
n.671C>T
n.511C>T
c.110C>T (p.Ala37Val)
2g.189575202G>CCA349989685SLC40A1c.230C>G (p.Ala77Gly)
n.671C>G
n.511C>G
c.110C>G (p.Ala37Gly)
 COSMIC
2g.189575202G=CA1315653689SLC40A1c.230C= (p.Ala77=)
n.671C=
n.511C=
c.110C= (p.Ala37=)
2g.189575202G>TCA117517SLC40A1c.230C>A (p.Ala77Asp)
n.671C>A
n.511C>A
c.110C>A (p.Ala37Asp)
 ClinVar dbSNP
2g.189575203C>ACA349989686SLC40A1c.229G>T (p.Ala77Ser)
n.670G>T
n.510G>T
c.109G>T (p.Ala37Ser)
2g.189575203C=CA1315653694SLC40A1c.229G= (p.Ala77=)
n.670G=
n.510G=
c.109G= (p.Ala37=)
2g.189575203C>GCA349989687SLC40A1c.229G>C (p.Ala77Pro)
n.670G>C
n.510G>C
c.109G>C (p.Ala37Pro)
2g.189575203C>TCA62904036SLC40A1c.229G>A (p.Ala77Thr)
n.670G>A
n.510G>A
c.109G>A (p.Ala37Thr)
 dbSNP
2g.189575204T>ACA430367508SLC40A1c.228A>T (p.Gly76=)
n.669A>T
n.509A>T
c.108A>T (p.Gly36=)
2g.189575204T>CCA430367509SLC40A1c.228A>G (p.Gly76=)
n.669A>G
n.509A>G
c.108A>G (p.Gly36=)
 dbSNP gnomAD v2 gnomAD v4
2g.189575204T>GCA430367510SLC40A1c.228A>C (p.Gly76=)
n.669A>C
n.509A>C
c.108A>C (p.Gly36=)
2g.189575204T=CA1315653696SLC40A1c.228A= (p.Gly76=)
n.669A=
n.509A=
c.108A= (p.Gly36=)
2g.189575205C>ACA349989690SLC40A1c.227G>T (p.Gly76Val)
n.668G>T
n.508G>T
c.107G>T (p.Gly36Val)
2g.189575205C>GCA349989689SLC40A1c.227G>C (p.Gly76Ala)
n.668G>C
n.508G>C
c.107G>C (p.Gly36Ala)
2g.189575205C>TCA349989688SLC40A1c.227G>A (p.Gly76Glu)
n.668G>A
n.508G>A
c.107G>A (p.Gly36Glu)
 COSMIC
2g.189575206C>ACA349989691SLC40A1c.226G>T (p.Gly76Ter)
n.667G>T
n.507G>T
c.106G>T (p.Gly36Ter)
2g.189575206C>GCA349989692SLC40A1c.226G>C (p.Gly76Arg)
n.667G>C
n.507G>C
c.106G>C (p.Gly36Arg)
2g.189575206C>TCA349989693SLC40A1c.226G>A (p.Gly76Arg)
n.667G>A
n.507G>A
c.106G>A (p.Gly36Arg)
2g.189575207C>ACA430367511SLC40A1c.225G>T (p.Leu75=)
n.666G>T
n.506G>T
c.105G>T (p.Leu35=)
2g.189575207C>GCA430367512SLC40A1c.225G>C (p.Leu75=)
n.666G>C
n.506G>C
c.105G>C (p.Leu35=)
 COSMIC
2g.189575207C>TCA430367513SLC40A1c.225G>A (p.Leu75=)
n.666G>A
n.506G>A
c.105G>A (p.Leu35=)
2g.189575208A=CA1315653699SLC40A1c.224T= (p.Leu75=)
n.665T=
n.505T=
c.104T= (p.Leu35=)
2g.189575208A>CCA349989694SLC40A1c.224T>G (p.Leu75Arg)
n.665T>G
n.505T>G
c.104T>G (p.Leu35Arg)
2g.189575208A>GCA62904037SLC40A1c.224T>C (p.Leu75Pro)
n.665T>C
n.505T>C
c.104T>C (p.Leu35Pro)
 dbSNP
2g.189575208A>TCA349989695SLC40A1c.224T>A (p.Leu75Gln)
n.665T>A
n.505T>A
c.104T>A (p.Leu35Gln)
2g.189575209G>ACA430367514SLC40A1c.223C>T (p.Leu75=)
n.664C>T
n.504C>T
c.103C>T (p.Leu35=)
2g.189575209G>CCA349989696SLC40A1c.223C>G (p.Leu75Val)
n.664C>G
n.504C>G
c.103C>G (p.Leu35Val)
 COSMIC
2g.189575209G>TCA349989697SLC40A1c.223C>A (p.Leu75Met)
n.664C>A
n.504C>A
c.103C>A (p.Leu35Met)
2g.189575210G>ACA430367515SLC40A1c.222C>T (p.Val74=)
n.663C>T
n.503C>T
c.102C>T (p.Val34=)
2g.189575210G>CCA430367516SLC40A1c.222C>G (p.Val74=)
n.663C>G
n.503C>G
c.102C>G (p.Val34=)
2g.189575210G>TCA430367517SLC40A1c.222C>A (p.Val74=)
n.663C>A
n.503C>A
c.102C>A (p.Val34=)
2g.189575211A>CCA349989698SLC40A1c.221T>G (p.Val74Gly)
n.662T>G
n.502T>G
c.101T>G (p.Val34Gly)
2g.189575211A>GCA349989699SLC40A1c.221T>C (p.Val74Ala)
n.662T>C
n.502T>C
c.101T>C (p.Val34Ala)
2g.189575211A>TCA349989700SLC40A1c.221T>A (p.Val74Asp)
n.662T>A
n.502T>A
c.101T>A (p.Val34Asp)
2g.189575212C>ACA349989701SLC40A1c.220G>T (p.Val74Phe)
n.661G>T
n.501G>T
c.100G>T (p.Val34Phe)
2g.189575212C>GCA349989702SLC40A1c.220G>C (p.Val74Leu)
n.661G>C
n.501G>C
c.100G>C (p.Val34Leu)
2g.189575212C>TCA349989703SLC40A1c.220G>A (p.Val74Ile)
n.661G>A
n.501G>A
c.100G>A (p.Val34Ile)
2g.189575213C>ACA430367518SLC40A1c.219G>T (p.Leu73=)
n.660G>T
n.500G>T
c.99G>T (p.Leu33=)
2g.189575213C>GCA430367520SLC40A1c.219G>C (p.Leu73=)
n.660G>C
n.500G>C
c.99G>C (p.Leu33=)
2g.189575213C>TCA430367519SLC40A1c.219G>A (p.Leu73=)
n.660G>A
n.500G>A
c.99G>A (p.Leu33=)
2g.189575214A>CCA349989705SLC40A1c.218T>G (p.Leu73Arg)
n.659T>G
n.499T>G
c.98T>G (p.Leu33Arg)
2g.189575214A>GCA349989706SLC40A1c.218T>C (p.Leu73Pro)
n.659T>C
n.499T>C
c.98T>C (p.Leu33Pro)
2g.189575214A>TCA349989704SLC40A1c.218T>A (p.Leu73Gln)
n.659T>A
n.499T>A
c.98T>A (p.Leu33Gln)
2g.189575215G>ACA430367521SLC40A1c.217C>T (p.Leu73=)
n.658C>T
n.498C>T
c.97C>T (p.Leu33=)
2g.189575215G>CCA349989707SLC40A1c.217C>G (p.Leu73Val)
n.658C>G
n.498C>G
c.97C>G (p.Leu33Val)
 COSMIC
2g.189575215G>TCA349989708SLC40A1c.217C>A (p.Leu73Met)
n.658C>A
n.498C>A
c.97C>A (p.Leu33Met)
2g.189575216A>CCA430367522SLC40A1c.216T>G (p.Val72=)
n.657T>G
n.497T>G
c.96T>G (p.Val32=)
2g.189575216A>GCA430367523SLC40A1c.216T>C (p.Val72=)
n.657T>C
n.497T>C
c.96T>C (p.Val32=)
2g.189575216A>TCA430367524SLC40A1c.216T>A (p.Val72=)
n.657T>A
n.497T>A
c.96T>A (p.Val32=)
2g.189575217A>CCA349989709SLC40A1c.215T>G (p.Val72Gly)
n.656T>G
n.496T>G
c.95T>G (p.Val32Gly)
2g.189575217A>GCA349989710SLC40A1c.215T>C (p.Val72Ala)
n.656T>C
n.496T>C
c.95T>C (p.Val32Ala)
2g.189575217A>TCA349989711SLC40A1c.215T>A (p.Val72Asp)
n.656T>A
n.496T>A
c.95T>A (p.Val32Asp)
2g.189575218C>ACA349989713SLC40A1c.214G>T (p.Val72Phe)
n.655G>T
n.495G>T
c.94G>T (p.Val32Phe)
 dbSNP
2g.189575218C=CA1315653703SLC40A1c.214G= (p.Val72=)
n.655G=
n.495G=
c.94G= (p.Val32=)
2g.189575218C>GCA62904038SLC40A1c.214G>C (p.Val72Leu)
n.655G>C
n.495G>C
c.94G>C (p.Val32Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189575218C>TCA349989712SLC40A1c.214G>A (p.Val72Ile)
n.655G>A
n.495G>A
c.94G>A (p.Val32Ile)
2g.189575219A>CCA430367525SLC40A1c.213T>G (p.Ser71=)
n.654T>G
n.494T>G
c.93T>G (p.Ser31=)
2g.189575219A>GCA430367526SLC40A1c.213T>C (p.Ser71=)
n.654T>C
n.494T>C
c.93T>C (p.Ser31=)
 gnomAD v4
2g.189575219A>TCA430367527SLC40A1c.213T>A (p.Ser71=)
n.654T>A
n.494T>A
c.93T>A (p.Ser31=)
2g.189575220G>ACA349989714SLC40A1c.212C>T (p.Ser71Phe)
n.653C>T
n.493C>T
c.92C>T (p.Ser31Phe)
 ClinVar dbSNP
2g.189575220G>CCA62904039SLC40A1c.212C>G (p.Ser71Cys)
n.653C>G
n.493C>G
c.92C>G (p.Ser31Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575220G=CA1315653706SLC40A1c.212C= (p.Ser71=)
n.653C=
n.493C=
c.92C= (p.Ser31=)
2g.189575220G>TCA349989715SLC40A1c.212C>A (p.Ser71Tyr)
n.653C>A
n.493C>A
c.92C>A (p.Ser31Tyr)
2g.189575221A=CA1315653709SLC40A1c.211T= (p.Ser71=)
n.652T=
n.492T=
c.91T= (p.Ser31=)
2g.189575221A>CCA349989716SLC40A1c.211T>G (p.Ser71Ala)
n.652T>G
n.492T>G
c.91T>G (p.Ser31Ala)
 dbSNP gnomAD v2
2g.189575221A>GCA349989717SLC40A1c.211T>C (p.Ser71Pro)
n.652T>C
n.492T>C
c.91T>C (p.Ser31Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.189575221A>TCA349989718SLC40A1c.211T>A (p.Ser71Thr)
n.652T>A
n.492T>A
c.91T>A (p.Ser31Thr)
 gnomAD v4
2g.189575222C>ACA430367528SLC40A1c.210G>T (p.Gly70=)
n.651G>T
n.491G>T
c.90G>T (p.Gly30=)
2g.189575222C>GCA430367529SLC40A1c.210G>C (p.Gly70=)
n.651G>C
n.491G>C
c.90G>C (p.Gly30=)
2g.189575222C>TCA430367530SLC40A1c.210G>A (p.Gly70=)
n.651G>A
n.491G>A
c.90G>A (p.Gly30=)
2g.189575223C>ACA349989719SLC40A1c.209G>T (p.Gly70Val)
n.650G>T
n.490G>T
c.89G>T (p.Gly30Val)
2g.189575223C>GCA349989721SLC40A1c.209G>C (p.Gly70Ala)
n.650G>C
n.490G>C
c.89G>C (p.Gly30Ala)
2g.189575223C>TCA349989720SLC40A1c.209G>A (p.Gly70Glu)
n.650G>A
n.490G>A
c.89G>A (p.Gly30Glu)
2g.189575224C>ACA349989722SLC40A1c.208G>T (p.Gly70Trp)
n.649G>T
n.489G>T
c.88G>T (p.Gly30Trp)
2g.189575224C>GCA349989723SLC40A1c.208G>C (p.Gly70Arg)
n.649G>C
n.489G>C
c.88G>C (p.Gly30Arg)
2g.189575224C>TCA349989724SLC40A1c.208G>A (p.Gly70Arg)
n.649G>A
n.489G>A
c.88G>A (p.Gly30Arg)
2g.189575225T>ACA430367531SLC40A1c.207A>T (p.Ala69=)
n.648A>T
n.488A>T
c.87A>T (p.Ala29=)
2g.189575225T>CCA2024281SLC40A1c.207A>G (p.Ala69=)
n.648A>G
n.488A>G
c.87A>G (p.Ala29=)
 dbSNP ExAC gnomAD v2
2g.189575225T>GCA430367532SLC40A1c.207A>C (p.Ala69=)
n.648A>C
n.488A>C
c.87A>C (p.Ala29=)
 gnomAD v4
2g.189575225T=CA1315653712SLC40A1c.207A= (p.Ala69=)
n.648A=
n.488A=
c.87A= (p.Ala29=)
2g.189575226G>ACA349989725SLC40A1c.206C>T (p.Ala69Val)
n.647C>T
n.487C>T
c.86C>T (p.Ala29Val)
2g.189575226G>CCA349989726SLC40A1c.206C>G (p.Ala69Gly)
n.647C>G
n.487C>G
c.86C>G (p.Ala29Gly)
2g.189575226G>TCA349989727SLC40A1c.206C>A (p.Ala69Glu)
n.647C>A
n.487C>A
c.86C>A (p.Ala29Glu)
2g.189575227C>ACA349989728SLC40A1c.205G>T (p.Ala69Ser)
n.646G>T
n.486G>T
c.85G>T (p.Ala29Ser)
 ClinVar
2g.189575227C>GCA349989729SLC40A1c.205G>C (p.Ala69Pro)
n.646G>C
n.486G>C
c.85G>C (p.Ala29Pro)
2g.189575227C>TCA349989730SLC40A1c.205G>A (p.Ala69Thr)
n.646G>A
n.486G>A
c.85G>A (p.Ala29Thr)
2g.189575228C>ACA430367533SLC40A1c.204G>T (p.Val68=)
n.645G>T
n.485G>T
c.84G>T (p.Val28=)
2g.189575228C=CA1315653717SLC40A1c.204G= (p.Val68=)
n.645G=
n.485G=
c.84G= (p.Val28=)
2g.189575228C>GCA430367534SLC40A1c.204G>C (p.Val68=)
n.645G>C
n.485G>C
c.84G>C (p.Val28=)
2g.189575228C>TCA430367535SLC40A1c.204G>A (p.Val68=)
n.645G>A
n.485G>A
c.84G>A (p.Val28=)
 dbSNP gnomAD v2 gnomAD v4
2g.189575229A>CCA349989731SLC40A1c.203T>G (p.Val68Gly)
n.644T>G
n.484T>G
c.83T>G (p.Val28Gly)
2g.189575229A>GCA349989733SLC40A1c.203T>C (p.Val68Ala)
n.644T>C
n.484T>C
c.83T>C (p.Val28Ala)
2g.189575229A>TCA349989732SLC40A1c.203T>A (p.Val68Glu)
n.644T>A
n.484T>A
c.83T>A (p.Val28Glu)
2g.189575230C>ACA349989734SLC40A1c.202G>T (p.Val68Leu)
n.643G>T
n.483G>T
c.82G>T (p.Val28Leu)
2g.189575230C>GCA349989736SLC40A1c.202G>C (p.Val68Leu)
n.643G>C
n.483G>C
c.82G>C (p.Val28Leu)
 gnomAD v4
2g.189575230C>TCA349989735SLC40A1c.202G>A (p.Val68Met)
n.643G>A
n.483G>A
c.82G>A (p.Val28Met)
2g.189575231C>ACA430367536SLC40A1c.201G>T (p.Val67=)
n.642G>T
n.482G>T
c.81G>T (p.Val27=)
 gnomAD v4
2g.189575231C>GCA430367537SLC40A1c.201G>C (p.Val67=)
n.642G>C
n.482G>C
c.81G>C (p.Val27=)
2g.189575231C>TCA430367538SLC40A1c.201G>A (p.Val67=)
n.642G>A
n.482G>A
c.81G>A (p.Val27=)
2g.189575232A>CCA349989737SLC40A1c.200T>G (p.Val67Gly)
n.641T>G
n.481T>G
c.80T>G (p.Val27Gly)
2g.189575232A>GCA349989739SLC40A1c.200T>C (p.Val67Ala)
n.641T>C
n.481T>C
c.80T>C (p.Val27Ala)
2g.189575232A>TCA349989738SLC40A1c.200T>A (p.Val67Glu)
n.641T>A
n.481T>A
c.80T>A (p.Val27Glu)
2g.189575233C>ACA349989740SLC40A1c.199G>T (p.Val67Leu)
n.640G>T
n.480G>T
c.79G>T (p.Val27Leu)
2g.189575233C=CA1315653719SLC40A1c.199G= (p.Val67=)
n.640G=
n.480G=
c.79G= (p.Val27=)
2g.189575233C>GCA349989741SLC40A1c.199G>C (p.Val67Leu)
n.640G>C
n.480G>C
c.79G>C (p.Val27Leu)
2g.189575233C>TCA62904040SLC40A1c.199G>A (p.Val67Met)
n.640G>A
n.480G>A
c.79G>A (p.Val27Met)
 dbSNP gnomAD v2 gnomAD v4
2g.189575234C>ACA430367541SLC40A1c.198G>T (p.Leu66=)
n.639G>T
n.479G>T
c.78G>T (p.Leu26=)
2g.189575234C>GCA430367540SLC40A1c.198G>C (p.Leu66=)
n.639G>C
n.479G>C
c.78G>C (p.Leu26=)
2g.189575234C>TCA430367539SLC40A1c.198G>A (p.Leu66=)
n.639G>A
n.479G>A
c.78G>A (p.Leu26=)
2g.189575235A>CCA349989742SLC40A1c.197T>G (p.Leu66Arg)
n.638T>G
n.478T>G
c.77T>G (p.Leu26Arg)
2g.189575235A>GCA349989743SLC40A1c.197T>C (p.Leu66Pro)
n.638T>C
n.478T>C
c.77T>C (p.Leu26Pro)
2g.189575235A>TCA349989744SLC40A1c.197T>A (p.Leu66Gln)
n.638T>A
n.478T>A
c.77T>A (p.Leu26Gln)
2g.189575236G>ACA430367542SLC40A1c.196C>T (p.Leu66=)
n.637C>T
n.477C>T
c.76C>T (p.Leu26=)
2g.189575236G>CCA349989745SLC40A1c.196C>G (p.Leu66Val)
n.637C>G
n.477C>G
c.76C>G (p.Leu26Val)
2g.189575236G>TCA349989746SLC40A1c.196C>A (p.Leu66Met)
n.637C>A
n.477C>A
c.76C>A (p.Leu26Met)
 COSMIC
2g.189575237C>ACA430367545SLC40A1c.195G>T (p.Gly65=)
n.636G>T
n.476G>T
c.75G>T (p.Gly25=)
 gnomAD v4
2g.189575237C>GCA430367544SLC40A1c.195G>C (p.Gly65=)
n.636G>C
n.476G>C
c.75G>C (p.Gly25=)
2g.189575237C>TCA430367543SLC40A1c.195G>A (p.Gly65=)
n.636G>A
n.476G>A
c.75G>A (p.Gly25=)
2g.189575238C>ACA349989747SLC40A1c.194G>T (p.Gly65Val)
n.635G>T
n.475G>T
c.74G>T (p.Gly25Val)
2g.189575238C>GCA349989748SLC40A1c.194G>C (p.Gly65Ala)
n.635G>C
n.475G>C
c.74G>C (p.Gly25Ala)
2g.189575238C>TCA349989749SLC40A1c.194G>A (p.Gly65Glu)
n.635G>A
n.475G>A
c.74G>A (p.Gly25Glu)
2g.189575239C>ACA349989751SLC40A1c.193G>T (p.Gly65Trp)
n.634G>T
n.474G>T
c.73G>T (p.Gly25Trp)
2g.189575239C=CA1315653721SLC40A1c.193G= (p.Gly65=)
n.634G=
n.474G=
c.73G= (p.Gly25=)
2g.189575239C>GCA349989750SLC40A1c.193G>C (p.Gly65Arg)
n.634G>C
n.474G>C
c.73G>C (p.Gly25Arg)
2g.189575239C>TCA62904041SLC40A1c.193G>A (p.Gly65Arg)
n.634G>A
n.474G>A
c.73G>A (p.Gly25Arg)
 dbSNP gnomAD v4
2g.189575240G>ACA2024282SLC40A1c.192C>T (p.Tyr64=)
n.633C>T
n.473C>T
c.72C>T (p.Tyr24=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189575240G>CCA349989752SLC40A1c.192C>G (p.Tyr64Ter)
n.633C>G
n.473C>G
c.72C>G (p.Tyr24Ter)
2g.189575240G=CA1315653726SLC40A1c.192C= (p.Tyr64=)
n.633C=
n.473C=
c.72C= (p.Tyr24=)
2g.189575240G>TCA349989753SLC40A1c.192C>A (p.Tyr64Ter)
n.633C>A
n.473C>A
c.72C>A (p.Tyr24Ter)
2g.189575241T>ACA349989754SLC40A1c.191A>T (p.Tyr64Phe)
n.632A>T
n.472A>T
c.71A>T (p.Tyr24Phe)
2g.189575241T>CCA349989755SLC40A1c.191A>G (p.Tyr64Cys)
n.632A>G
n.472A>G
c.71A>G (p.Tyr24Cys)
 dbSNP
2g.189575241T>GCA349989756SLC40A1c.191A>C (p.Tyr64Ser)
n.632A>C
n.472A>C
c.71A>C (p.Tyr24Ser)
2g.189575241T=CA1315653731SLC40A1c.191A= (p.Tyr64=)
n.632A=
n.472A=
c.71A= (p.Tyr24=)
2g.189575242A=CA1315653736SLC40A1c.190T= (p.Tyr64=)
n.631T=
n.471T=
c.70T= (p.Tyr24=)
2g.189575242A>CCA349989757SLC40A1c.190T>G (p.Tyr64Asp)
n.631T>G
n.471T>G
c.70T>G (p.Tyr24Asp)
2g.189575242A>GCA349989758SLC40A1c.190T>C (p.Tyr64His)
n.631T>C
n.471T>C
c.70T>C (p.Tyr24His)
 ClinVar dbSNP
2g.189575242A>TCA349989759SLC40A1c.190T>A (p.Tyr64Asn)
n.631T>A
n.471T>A
c.70T>A (p.Tyr24Asn)
 dbSNP
2g.189575243G>ACA2024283SLC40A1c.189C>T (p.Val63=)
n.630C>T
n.470C>T
c.69C>T (p.Val23=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575243G>CCA430367546SLC40A1c.189C>G (p.Val63=)
n.630C>G
n.470C>G
c.69C>G (p.Val23=)
2g.189575243G=CA1315653744SLC40A1c.189C= (p.Val63=)
n.630C=
n.470C=
c.69C= (p.Val23=)
2g.189575243G>TCA430367547SLC40A1c.189C>A (p.Val63=)
n.630C>A
n.470C>A
c.69C>A (p.Val23=)
2g.189575244A>CCA349989762SLC40A1c.188T>G (p.Val63Gly)
n.629T>G
n.469T>G
c.68T>G (p.Val23Gly)
2g.189575244A>GCA349989761SLC40A1c.188T>C (p.Val63Ala)
n.629T>C
n.469T>C
c.68T>C (p.Val23Ala)
 ClinVar dbSNP
2g.189575244A>TCA349989760SLC40A1c.188T>A (p.Val63Asp)
n.629T>A
n.469T>A
c.68T>A (p.Val23Asp)
2g.189575245C>ACA349989763SLC40A1c.187G>T (p.Val63Phe)
n.628G>T
n.468G>T
c.67G>T (p.Val23Phe)
2g.189575245C>GCA349989764SLC40A1c.187G>C (p.Val63Leu)
n.628G>C
n.468G>C
c.67G>C (p.Val23Leu)
 gnomAD v4
2g.189575245C>TCA349989765SLC40A1c.187G>A (p.Val63Ile)
n.628G>A
n.468G>A
c.67G>A (p.Val23Ile)
 ClinVar
2g.189575246T>ACA430367548SLC40A1c.186A>T (p.Ala62=)
n.627A>T
n.467A>T
c.66A>T (p.Ala22=)
2g.189575246T>CCA2024284SLC40A1c.186A>G (p.Ala62=)
n.627A>G
n.467A>G
c.66A>G (p.Ala22=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575246T>GCA430367549SLC40A1c.186A>C (p.Ala62=)
n.627A>C
n.467A>C
c.66A>C (p.Ala22=)
2g.189575246T=CA1315653747SLC40A1c.186A= (p.Ala62=)
n.627A=
n.467A=
c.66A= (p.Ala22=)
2g.189575247G>ACA349989766SLC40A1c.185C>T (p.Ala62Val)
n.626C>T
n.466C>T
c.65C>T (p.Ala22Val)
 gnomAD v4
2g.189575247G>CCA349989767SLC40A1c.185C>G (p.Ala62Gly)
n.626C>G
n.466C>G
c.65C>G (p.Ala22Gly)
2g.189575247G>TCA349989768SLC40A1c.185C>A (p.Ala62Glu)
n.626C>A
n.466C>A
c.65C>A (p.Ala22Glu)
2g.189575248C>ACA349989769SLC40A1c.184G>T (p.Ala62Ser)
n.625G>T
n.465G>T
c.64G>T (p.Ala22Ser)
2g.189575248C>GCA349989770SLC40A1c.184G>C (p.Ala62Pro)
n.625G>C
n.465G>C
c.64G>C (p.Ala22Pro)
2g.189575248C>TCA349989771SLC40A1c.184G>A (p.Ala62Thr)
n.625G>A
n.465G>A
c.64G>A (p.Ala22Thr)
2g.189575249T>ACA430367550SLC40A1c.183A>T (p.Thr61=)
n.624A>T
n.464A>T
c.63A>T (p.Thr21=)
2g.189575249T>CCA430367551SLC40A1c.183A>G (p.Thr61=)
n.624A>G
n.464A>G
c.63A>G (p.Thr21=)
2g.189575249T>GCA430367552SLC40A1c.183A>C (p.Thr61=)
n.624A>C
n.464A>C
c.63A>C (p.Thr21=)
2g.189575250G>ACA349989772SLC40A1c.182C>T (p.Thr61Ile)
n.623C>T
n.463C>T
c.62C>T (p.Thr21Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.189575250G>CCA349989773SLC40A1c.182C>G (p.Thr61Arg)
n.623C>G
n.463C>G
c.62C>G (p.Thr21Arg)
2g.189575250G=CA1315653751SLC40A1c.182C= (p.Thr61=)
n.623C=
n.463C=
c.62C= (p.Thr21=)
2g.189575250G>TCA349989774SLC40A1c.182C>A (p.Thr61Lys)
n.623C>A
n.463C>A
c.62C>A (p.Thr21Lys)
 gnomAD v4
2g.189575251T>ACA349989775SLC40A1c.181A>T (p.Thr61Ser)
n.622A>T
n.462A>T
c.61A>T (p.Thr21Ser)
2g.189575251T>CCA349989777SLC40A1c.181A>G (p.Thr61Ala)
n.622A>G
n.462A>G
c.61A>G (p.Thr21Ala)
2g.189575251T>GCA349989776SLC40A1c.181A>C (p.Thr61Pro)
n.622A>C
n.462A>C
c.61A>C (p.Thr21Pro)
2g.189575252C>ACA349989778SLC40A1c.180G>T (p.Leu60Phe)
n.621G>T
n.461G>T
c.60G>T (p.Leu20Phe)
2g.189575252C>GCA349989779SLC40A1c.180G>C (p.Leu60Phe)
n.621G>C
n.461G>C
c.60G>C (p.Leu20Phe)
2g.189575252C>TCA430367553SLC40A1c.180G>A (p.Leu60=)
n.621G>A
n.461G>A
c.60G>A (p.Leu20=)
2g.189575253A=CA1315653754SLC40A1c.179T= (p.Leu60=)
n.620T=
n.460T=
c.59T= (p.Leu20=)
2g.189575253A>CCA349989780SLC40A1c.179T>G (p.Leu60Trp)
n.620T>G
n.460T>G
c.59T>G (p.Leu20Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575253A>GCA349989781SLC40A1c.179T>C (p.Leu60Ser)
n.620T>C
n.460T>C
c.59T>C (p.Leu20Ser)
2g.189575253A>TCA349989782SLC40A1c.179T>A (p.Leu60Ter)
n.620T>A
n.460T>A
c.59T>A (p.Leu20Ter)
2g.189575254A=CA1315653758SLC40A1c.178T= (p.Leu60=)
n.619T=
n.459T=
c.58T= (p.Leu20=)
2g.189575254A>CCA349989783SLC40A1c.178T>G (p.Leu60Val)
n.619T>G
n.459T>G
c.58T>G (p.Leu20Val)
2g.189575254A>GCA430367554SLC40A1c.178T>C (p.Leu60=)
n.619T>C
n.459T>C
c.58T>C (p.Leu20=)
 dbSNP gnomAD v2 gnomAD v4
2g.189575254A>TCA349989784SLC40A1c.178T>A (p.Leu60Met)
n.619T>A
n.459T>A
c.58T>A (p.Leu20Met)
2g.189575255A>CCA430367556SLC40A1c.177T>G (p.Leu59=)
n.618T>G
n.458T>G
c.57T>G (p.Leu19=)
2g.189575255A>GCA430367557SLC40A1c.177T>C (p.Leu59=)
n.618T>C
n.458T>C
c.57T>C (p.Leu19=)
2g.189575255A>TCA430367555SLC40A1c.177T>A (p.Leu59=)
n.618T>A
n.458T>A
c.57T>A (p.Leu19=)
2g.189575256A=CA1315653761SLC40A1c.176T= (p.Leu59=)
n.617T=
n.457T=
c.56T= (p.Leu19=)
2g.189575256A>CCA62904042SLC40A1c.176T>G (p.Leu59Arg)
n.617T>G
n.457T>G
c.56T>G (p.Leu19Arg)
 dbSNP
2g.189575256A>GCA349989785SLC40A1c.176T>C (p.Leu59Pro)
n.617T>C
n.457T>C
c.56T>C (p.Leu19Pro)
2g.189575256A>TCA349989786SLC40A1c.176T>A (p.Leu59His)
n.617T>A
n.457T>A
c.56T>A (p.Leu19His)
2g.189575259_189575261delCA2662329091SLC40A1c.174_176del (p.Leu59del)
n.615_617del
n.455_457del
c.54_56del (p.Leu19del)
 gnomAD v4
2g.189575257G>ACA349989788SLC40A1c.175C>T (p.Leu59Phe)
n.616C>T
n.456C>T
c.55C>T (p.Leu19Phe)
 COSMIC
2g.189575257G>CCA349989789SLC40A1c.175C>G (p.Leu59Val)
n.616C>G
n.456C>G
c.55C>G (p.Leu19Val)
2g.189575257G>TCA349989787SLC40A1c.175C>A (p.Leu59Ile)
n.616C>A
n.456C>A
c.55C>A (p.Leu19Ile)
2g.189575258G>ACA430367558SLC40A1c.174C>T (p.Leu58=)
n.615C>T
n.455C>T
c.54C>T (p.Leu18=)
 COSMIC
2g.189575258G>CCA430367559SLC40A1c.174C>G (p.Leu58=)
n.615C>G
n.455C>G
c.54C>G (p.Leu18=)
2g.189575258G>TCA430367560SLC40A1c.174C>A (p.Leu58=)
n.615C>A
n.455C>A
c.54C>A (p.Leu18=)
2g.189575259A>CCA349989790SLC40A1c.173T>G (p.Leu58Arg)
n.614T>G
n.454T>G
c.53T>G (p.Leu18Arg)
2g.189575259A>GCA349989791SLC40A1c.173T>C (p.Leu58Pro)
n.614T>C
n.454T>C
c.53T>C (p.Leu18Pro)
2g.189575259A>TCA349989792SLC40A1c.173T>A (p.Leu58His)
n.614T>A
n.454T>A
c.53T>A (p.Leu18His)
2g.189575260G>ACA349989793SLC40A1c.172C>T (p.Leu58Phe)
n.613C>T
n.453C>T
c.52C>T (p.Leu18Phe)
 gnomAD v4
2g.189575260G>CCA349989794SLC40A1c.172C>G (p.Leu58Val)
n.613C>G
n.453C>G
c.52C>G (p.Leu18Val)
2g.189575260G>TCA349989795SLC40A1c.172C>A (p.Leu58Ile)
n.613C>A
n.453C>A
c.52C>A (p.Leu18Ile)
2g.189575261G>ACA430367561SLC40A1c.171C>T (p.Ser57=)
n.612C>T
n.452C>T
c.51C>T (p.Ser17=)
 gnomAD v4
2g.189575261G>CCA349989796SLC40A1c.171C>G (p.Ser57Arg)
n.612C>G
n.452C>G
c.51C>G (p.Ser17Arg)
2g.189575261G=CA1315653763SLC40A1c.171C= (p.Ser57=)
n.612C=
n.452C=
c.51C= (p.Ser17=)
2g.189575261G>TCA349989797SLC40A1c.171C>A (p.Ser57Arg)
n.612C>A
n.452C>A
c.51C>A (p.Ser17Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189575262C>ACA349989798SLC40A1c.170G>T (p.Ser57Ile)
n.611G>T
n.451G>T
c.50G>T (p.Ser17Ile)
2g.189575262C>GCA349989799SLC40A1c.170G>C (p.Ser57Thr)
n.611G>C
n.451G>C
c.50G>C (p.Ser17Thr)
 COSMIC
2g.189575262C>TCA349989800SLC40A1c.170G>A (p.Ser57Asn)
n.611G>A
n.451G>A
c.50G>A (p.Ser17Asn)
2g.189575263T>ACA349989801SLC40A1c.169A>T (p.Ser57Cys)
n.610A>T
n.450A>T
c.49A>T (p.Ser17Cys)
2g.189575263T>CCA349989802SLC40A1c.169A>G (p.Ser57Gly)
n.610A>G
n.450A>G
c.49A>G (p.Ser17Gly)
2g.189575263T>GCA349989803SLC40A1c.169A>C (p.Ser57Arg)
n.610A>C
n.450A>C
c.49A>C (p.Ser17Arg)
2g.189575264G>ACA430367562SLC40A1c.168C>T (p.Asn56=)
n.609C>T
n.449C>T
c.48C>T (p.Asn16=)
 gnomAD v4
2g.189575264G>CCA349989805SLC40A1c.168C>G (p.Asn56Lys)
n.609C>G
n.449C>G
c.48C>G (p.Asn16Lys)
2g.189575264G>TCA349989804SLC40A1c.168C>A (p.Asn56Lys)
n.609C>A
n.449C>A
c.48C>A (p.Asn16Lys)
2g.189575265T>ACA349989806SLC40A1c.167A>T (p.Asn56Ile)
n.608A>T
n.448A>T
c.47A>T (p.Asn16Ile)
2g.189575265T>CCA2024285SLC40A1c.167A>G (p.Asn56Ser)
n.608A>G
n.448A>G
c.47A>G (p.Asn16Ser)
 dbSNP ExAC gnomAD v2
2g.189575265T>GCA349989807SLC40A1c.167A>C (p.Asn56Thr)
n.608A>C
n.448A>C
c.47A>C (p.Asn16Thr)
2g.189575265T=CA1315653765SLC40A1c.167A= (p.Asn56=)
n.608A=
n.448A=
c.47A= (p.Asn16=)
2g.189575266T>ACA349989808SLC40A1c.166A>T (p.Asn56Tyr)
n.607A>T
c.166A>T
n.447A>T
c.46A>T (p.Asn16Tyr)
2g.189575266T>CCA349989809SLC40A1c.166A>G (p.Asn56Asp)
n.607A>G
c.166A>G
n.447A>G
c.46A>G (p.Asn16Asp)
2g.189575266T>GCA349989810SLC40A1c.166A>C (p.Asn56His)
n.607A>C
c.166A>C
n.447A>C
c.46A>C (p.Asn16His)
2g.189575267T>ACA430367563SLC40A1c.165A>T (p.Gly55=)
n.606A>T
n.446A>T
c.45A>T (p.Gly15=)
2g.189575267T>CCA430367565SLC40A1c.165A>G (p.Gly55=)
n.606A>G
n.446A>G
c.45A>G (p.Gly15=)
2g.189575267T>GCA430367564SLC40A1c.165A>C (p.Gly55=)
n.606A>C
n.446A>C
c.45A>C (p.Gly15=)
2g.189575268C>ACA349989813SLC40A1c.164G>T (p.Gly55Val)
n.605G>T
n.445G>T
c.44G>T (p.Gly15Val)
2g.189575268C>GCA349989811SLC40A1c.164G>C (p.Gly55Ala)
n.605G>C
n.445G>C
c.44G>C (p.Gly15Ala)
2g.189575268C>TCA349989812SLC40A1c.164G>A (p.Gly55Glu)
n.605G>A
n.445G>A
c.44G>A (p.Gly15Glu)
 gnomAD v4 COSMIC
2g.189575269C>ACA349989814SLC40A1c.163G>T (p.Gly55Ter)
n.604G>T
n.444G>T
c.43G>T (p.Gly15Ter)
2g.189575269C>GCA349989815SLC40A1c.163G>C (p.Gly55Arg)
n.604G>C
n.444G>C
c.43G>C (p.Gly15Arg)
2g.189575269C>TCA349989816SLC40A1c.163G>A (p.Gly55Arg)
n.604G>A
n.444G>A
c.43G>A (p.Gly15Arg)
 gnomAD v4
2g.189575270A>CCA349989817SLC40A1c.162T>G (p.Tyr54Ter)
n.603T>G
n.443T>G
c.42T>G (p.Tyr14Ter)
2g.189575270A>GCA430367566SLC40A1c.162T>C (p.Tyr54=)
n.603T>C
n.443T>C
c.42T>C (p.Tyr14=)
 gnomAD v4
2g.189575270A>TCA349989818SLC40A1c.162T>A (p.Tyr54Ter)
n.603T>A
n.443T>A
c.42T>A (p.Tyr14Ter)
2g.189575271T>ACA2024286SLC40A1c.161A>T (p.Tyr54Phe)
n.602A>T
n.442A>T
c.41A>T (p.Tyr14Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189575271T>CCA62904043SLC40A1c.161A>G (p.Tyr54Cys)
n.602A>G
n.442A>G
c.41A>G (p.Tyr14Cys)
 dbSNP gnomAD v4
2g.189575271T>GCA349989819SLC40A1c.161A>C (p.Tyr54Ser)
n.602A>C
n.442A>C
c.41A>C (p.Tyr14Ser)
2g.189575271T=CA1315653771SLC40A1c.161A= (p.Tyr54=)
n.602A=
n.442A=
c.41A= (p.Tyr14=)
2g.189575272A>CCA349989820SLC40A1c.160T>G (p.Tyr54Asp)
n.601T>G
n.441T>G
c.40T>G (p.Tyr14Asp)
 gnomAD v4
2g.189575272A>GCA349989821SLC40A1c.160T>C (p.Tyr54His)
n.601T>C
n.441T>C
c.40T>C (p.Tyr14His)
2g.189575272A>TCA349989822SLC40A1c.160T>A (p.Tyr54Asn)
n.601T>A
n.441T>A
c.40T>A (p.Tyr14Asn)
2g.189575273G>ACA430367567SLC40A1c.159C>T (p.Leu53=)
n.600C>T
n.440C>T
c.39C>T (p.Leu13=)
2g.189575273G>CCA430367568SLC40A1c.159C>G (p.Leu53=)
n.600C>G
n.440C>G
c.39C>G (p.Leu13=)
2g.189575273G>TCA430367569SLC40A1c.159C>A (p.Leu53=)
n.600C>A
n.440C>A
c.39C>A (p.Leu13=)
2g.189575274A>CCA349989823SLC40A1c.158T>G (p.Leu53Arg)
n.599T>G
n.439T>G
c.38T>G (p.Leu13Arg)
2g.189575274A>GCA349989824SLC40A1c.158T>C (p.Leu53Pro)
n.599T>C
n.439T>C
c.38T>C (p.Leu13Pro)
2g.189575274A>TCA349989825SLC40A1c.158T>A (p.Leu53His)
n.599T>A
n.439T>A
c.38T>A (p.Leu13His)
2g.189575275G>ACA349989827SLC40A1c.157C>T (p.Leu53Phe)
n.598C>T
n.438C>T
c.37C>T (p.Leu13Phe)
 gnomAD v4
2g.189575275G>CCA349989826SLC40A1c.157C>G (p.Leu53Val)
n.598C>G
n.438C>G
c.37C>G (p.Leu13Val)
2g.189575275G=CA1315653775SLC40A1c.157C= (p.Leu53=)
n.598C=
n.438C=
c.37C= (p.Leu13=)
2g.189575275G>TCA62904044SLC40A1c.157C>A (p.Leu53Ile)
n.598C>A
n.438C>A
c.37C>A (p.Leu13Ile)
 dbSNP
2g.189575276C>ACA349989828SLC40A1c.156G>T (p.Glu52Asp)
n.597G>T
n.437G>T
c.36G>T (p.Glu12Asp)
2g.189575276C>GCA349989829SLC40A1c.156G>C (p.Glu52Asp)
n.597G>C
n.437G>C
c.36G>C (p.Glu12Asp)
 gnomAD v4
2g.189575276C>TCA430367570SLC40A1c.156G>A (p.Glu52=)
n.597G>A
n.437G>A
c.36G>A (p.Glu12=)
 gnomAD v4
2g.189575277T>ACA349989830SLC40A1c.155A>T (p.Glu52Val)
n.596A>T
n.436A>T
c.35A>T (p.Glu12Val)
2g.189575277T>CCA349989831SLC40A1c.155A>G (p.Glu52Gly)
n.596A>G
n.436A>G
c.35A>G (p.Glu12Gly)
2g.189575277T>GCA349989832SLC40A1c.155A>C (p.Glu52Ala)
n.596A>C
n.436A>C
c.35A>C (p.Glu12Ala)
2g.189575278C>ACA349989833SLC40A1c.154G>T (p.Glu52Ter)
n.595G>T
n.435G>T
c.34G>T (p.Glu12Ter)
2g.189575278C>GCA349989835SLC40A1c.154G>C (p.Glu52Gln)
n.595G>C
n.435G>C
c.34G>C (p.Glu12Gln)
2g.189575278C>TCA349989834SLC40A1c.154G>A (p.Glu52Lys)
n.595G>A
n.435G>A
c.34G>A (p.Glu12Lys)
2g.189575279T>ACA430367571SLC40A1c.153A>T (p.Val51=)
n.594A>T
n.434A>T
c.33A>T (p.Val11=)
2g.189575279T>CCA430367572SLC40A1c.153A>G (p.Val51=)
n.594A>G
n.434A>G
c.33A>G (p.Val11=)
2g.189575279T>GCA430367573SLC40A1c.153A>C (p.Val51=)
n.594A>C
n.434A>C
c.33A>C (p.Val11=)
 dbSNP
2g.189575279T=CA1315653777SLC40A1c.153A= (p.Val51=)
n.594A=
n.434A=
c.33A= (p.Val11=)
2g.189575280A>CCA349989836SLC40A1c.152T>G (p.Val51Gly)
n.593T>G
n.433T>G
c.32T>G (p.Val11Gly)
2g.189575280A>GCA349989837SLC40A1c.152T>C (p.Val51Ala)
n.593T>C
n.433T>C
c.32T>C (p.Val11Ala)
2g.189575280A>TCA349989838SLC40A1c.152T>A (p.Val51Glu)
n.593T>A
n.433T>A
c.32T>A (p.Val11Glu)
2g.189575281C>ACA349989839SLC40A1c.151G>T (p.Val51Leu)
n.592G>T
n.432G>T
c.31G>T (p.Val11Leu)
 gnomAD v4
2g.189575281C>GCA349989840SLC40A1c.151G>C (p.Val51Leu)
n.592G>C
n.432G>C
c.31G>C (p.Val11Leu)
2g.189575281C>TCA349989841SLC40A1c.151G>A (p.Val51Ile)
n.592G>A
n.432G>A
c.31G>A (p.Val11Ile)
2g.189575282C>ACA430367574SLC40A1c.150G>T (p.Leu50=)
n.591G>T
n.431G>T
c.30G>T (p.Leu10=)
2g.189575282C=CA1315653780SLC40A1c.150G= (p.Leu50=)
n.591G=
n.431G=
c.30G= (p.Leu10=)
2g.189575282C>GCA430367575SLC40A1c.150G>C (p.Leu50=)
n.591G>C
n.431G>C
c.30G>C (p.Leu10=)
2g.189575282C>TCA62904045SLC40A1c.150G>A (p.Leu50=)
n.591G>A
n.431G>A
c.30G>A (p.Leu10=)
 dbSNP gnomAD v4
2g.189575283A>CCA349989842SLC40A1c.149T>G (p.Leu50Arg)
n.590T>G
n.430T>G
c.29T>G (p.Leu10Arg)
2g.189575283A>GCA349989843SLC40A1c.149T>C (p.Leu50Pro)
n.590T>C
n.430T>C
c.29T>C (p.Leu10Pro)
2g.189575283A>TCA349989844SLC40A1c.149T>A (p.Leu50Gln)
n.590T>A
n.430T>A
c.29T>A (p.Leu10Gln)
2g.189575284G>ACA430367576SLC40A1c.148C>T (p.Leu50=)
n.589C>T
n.429C>T
c.28C>T (p.Leu10=)
2g.189575284G>CCA349989845SLC40A1c.148C>G (p.Leu50Val)
n.589C>G
n.429C>G
c.28C>G (p.Leu10Val)
2g.189575284G>TCA349989846SLC40A1c.148C>A (p.Leu50Met)
n.589C>A
n.429C>A
c.28C>A (p.Leu10Met)
2g.189575285A>CCA349989847SLC40A1c.147T>G (p.Phe49Leu)
n.588T>G
n.428T>G
c.27T>G (p.Phe9Leu)
2g.189575285A>GCA430367577SLC40A1c.147T>C (p.Phe49=)
n.588T>C
n.428T>C
c.27T>C (p.Phe9=)
2g.189575285A>TCA349989848SLC40A1c.147T>A (p.Phe49Leu)
n.588T>A
n.428T>A
c.27T>A (p.Phe9Leu)
2g.189575286A>CCA349989849SLC40A1c.146T>G (p.Phe49Cys)
n.587T>G
n.427T>G
c.26T>G (p.Phe9Cys)
2g.189575286A>GCA349989851SLC40A1c.146T>C (p.Phe49Ser)
n.587T>C
n.427T>C
c.26T>C (p.Phe9Ser)
2g.189575286A>TCA349989850SLC40A1c.146T>A (p.Phe49Tyr)
n.587T>A
n.427T>A
c.26T>A (p.Phe9Tyr)
2g.189575286_189575288delinsAACCA1315653785SLC40A1c.144_146delinsGTT (p.Val48=)
n.585_587delinsGTT
n.425_427delinsGTT
c.24_26delinsGTT (p.Val8=)
2g.189575287A>CCA349989852SLC40A1c.145T>G (p.Phe49Val)
n.586T>G
n.426T>G
c.25T>G (p.Phe9Val)
2g.189575287A>GCA349989854SLC40A1c.145T>C (p.Phe49Leu)
n.586T>C
n.426T>C
c.25T>C (p.Phe9Leu)
 ClinVar gnomAD v4
2g.189575287A>TCA349989853SLC40A1c.145T>A (p.Phe49Ile)
n.586T>A
n.426T>A
c.25T>A (p.Phe9Ile)
2g.189575290_189575291delCA645519889SLC40A1c.144_145del (p.Phe49SerfsTer?)
n.585_586del
n.425_426del
c.24_25del (p.Phe9SerfsTer?)
 dbSNP COSMIC
2g.189575288C>ACA430367578SLC40A1c.144G>T (p.Val48=)
n.585G>T
n.425G>T
c.24G>T (p.Val8=)
2g.189575288C>GCA430367580SLC40A1c.144G>C (p.Val48=)
n.585G>C
n.425G>C
c.24G>C (p.Val8=)
2g.189575288C>TCA430367579SLC40A1c.144G>A (p.Val48=)
n.585G>A
n.425G>A
c.24G>A (p.Val8=)
2g.189575289A>CCA349989855SLC40A1c.143T>G (p.Val48Gly)
n.584T>G
n.424T>G
c.23T>G (p.Val8Gly)
2g.189575289A>GCA349989857SLC40A1c.143T>C (p.Val48Ala)
n.584T>C
n.424T>C
c.23T>C (p.Val8Ala)
2g.189575289A>TCA349989856SLC40A1c.143T>A (p.Val48Glu)
n.584T>A
n.424T>A
c.23T>A (p.Val8Glu)
2g.189575290C>ACA349989858SLC40A1c.142G>T (p.Val48Leu)
n.583G>T
n.423G>T
c.22G>T (p.Val8Leu)
 dbSNP gnomAD v2
2g.189575290C=CA1315653787SLC40A1c.142G= (p.Val48=)
n.583G=
n.423G=
c.22G= (p.Val8=)
2g.189575290C>GCA349989859SLC40A1c.142G>C (p.Val48Leu)
n.583G>C
n.423G>C
c.22G>C (p.Val8Leu)
2g.189575290C>TCA349989860SLC40A1c.142G>A (p.Val48Met)
n.583G>A
n.423G>A
c.22G>A (p.Val8Met)
 gnomAD v4
2g.189575291A>CCA430367581SLC40A1c.141T>G (p.Ser47=)
n.582T>G
n.422T>G
c.21T>G (p.Ser7=)
2g.189575291A>GCA430367582SLC40A1c.141T>C (p.Ser47=)
n.582T>C
n.422T>C
c.21T>C (p.Ser7=)
2g.189575291A>TCA430367583SLC40A1c.141T>A (p.Ser47=)
n.582T>A
n.422T>A
c.21T>A (p.Ser7=)
2g.189575292G>ACA349989861SLC40A1c.140C>T (p.Ser47Phe)
n.581C>T
n.421C>T
c.20C>T (p.Ser7Phe)
 ClinVar dbSNP
2g.189575292G>CCA349989862SLC40A1c.140C>G (p.Ser47Cys)
n.581C>G
n.421C>G
c.20C>G (p.Ser7Cys)
2g.189575292G>TCA349989863SLC40A1c.140C>A (p.Ser47Tyr)
n.581C>A
n.421C>A
c.20C>A (p.Ser7Tyr)
2g.189575293A=CA1315653789SLC40A1c.139T= (p.Ser47=)
n.580T=
n.420T=
c.19T= (p.Ser7=)
2g.189575293A>CCA349989864SLC40A1c.139T>G (p.Ser47Ala)
n.580T>G
n.420T>G
c.19T>G (p.Ser7Ala)
2g.189575293A>GCA349989865SLC40A1c.139T>C (p.Ser47Pro)
n.580T>C
n.420T>C
c.19T>C (p.Ser7Pro)
 ClinVar dbSNP
2g.189575293A>TCA349989866SLC40A1c.139T>A (p.Ser47Thr)
n.580T>A
n.420T>A
c.19T>A (p.Ser7Thr)

Number of alleles fetched