Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508323_45508325delCA312739MMACHCc.388_390del (p.Tyr130del)
c.217_219del (p.Tyr73del)
c.193_195del (p.Tyr65del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508323_45508326delinsTACCCA2473783393MMACHCc.388_391delinsTACC (p.Tyr130=)
c.217_220delinsTACC (p.Tyr73=)
c.193_196delinsTACC (p.Tyr65=)
1g.45508324A=CA1143395024MMACHCc.389A= (p.Tyr130=)
c.218A= (p.Tyr73=)
c.194A= (p.Tyr65=)
1g.45508324A>CCA340132368MMACHCc.389A>C (p.Tyr130Ser)
c.218A>C (p.Tyr73Ser)
c.194A>C (p.Tyr65Ser)
1g.45508324A>GCA827721MMACHCc.389A>G (p.Tyr130Cys)
c.218A>G (p.Tyr73Cys)
c.194A>G (p.Tyr65Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508324A>TCA340132370MMACHCc.389A>T (p.Tyr130Phe)
c.218A>T (p.Tyr73Phe)
c.194A>T (p.Tyr65Phe)
1g.45508325_45508327delCA2473783394MMACHCc.390_392del (p.Tyr130Ter)
c.219_221del (p.Tyr73Ter)
c.195_197del (p.Tyr65Ter)
 dbSNP
1g.45508326_45508329delCA913075167MMACHCc.391_394del (p.Gln131AspfsTer?)
c.220_223del (p.Gln74AspfsTer?)
c.196_199del (p.Gln66AspfsTer?)
1g.45508325C>ACA340132372MMACHCc.390C>A (p.Tyr130Ter)
c.219C>A (p.Tyr73Ter)
c.195C>A (p.Tyr65Ter)
1g.45508325C>GCA340132374MMACHCc.390C>G (p.Tyr130Ter)
c.219C>G (p.Tyr73Ter)
c.195C>G (p.Tyr65Ter)
1g.45508325C>TCA417705566MMACHCc.390C>T (p.Tyr130=)
c.219C>T (p.Tyr73=)
c.195C>T (p.Tyr65=)
 gnomAD v4
1g.45508325_45508328delinsCCAACA2473783395MMACHCc.390_393delinsCCAA (p.Tyr130=)
c.219_222delinsCCAA (p.Tyr73=)
c.195_198delinsCCAA (p.Tyr65=)
1g.45508326C>ACA340132384MMACHCc.391C>A (p.Gln131Lys)
c.220C>A (p.Gln74Lys)
c.196C>A (p.Gln66Lys)
1g.45508326C=CA2473783396MMACHCc.391C= (p.Gln131=)
c.220C= (p.Gln74=)
c.196C= (p.Gln66=)
1g.45508326C>GCA340132381MMACHCc.391C>G (p.Gln131Glu)
c.220C>G (p.Gln74Glu)
c.196C>G (p.Gln66Glu)
 gnomAD v4
1g.45508326C>TCA340132378MMACHCc.391C>T (p.Gln131Ter)
c.220C>T (p.Gln74Ter)
c.196C>T (p.Gln66Ter)
 ClinVar dbSNP
1g.45508327_45508329delCA827722MMACHCc.392_394del (p.Gln131del)
c.221_223del (p.Gln74del)
c.197_199del (p.Gln66del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508327A>CCA340132388MMACHCc.392A>C (p.Gln131Pro)
c.221A>C (p.Gln74Pro)
c.197A>C (p.Gln66Pro)
1g.45508327A>GCA340132390MMACHCc.392A>G (p.Gln131Arg)
c.221A>G (p.Gln74Arg)
c.197A>G (p.Gln66Arg)
 gnomAD v4
1g.45508327A>TCA340132393MMACHCc.392A>T (p.Gln131Leu)
c.221A>T (p.Gln74Leu)
c.197A>T (p.Gln66Leu)
1g.45508328dupCA1001243781MMACHCc.393dup (p.Arg132ThrfsTer7)
c.222dup (p.Arg75ThrfsTer7)
c.198dup (p.Arg67ThrfsTer7)
 dbSNP gnomAD v3 gnomAD v4
1g.45508327_45508330delinsAACGCA2473783397MMACHCc.392_395delinsAACG (p.Gln131=)
c.221_224delinsAACG (p.Gln74=)
c.197_200delinsAACG (p.Gln66=)
1g.45508328_45508331delCA913075168MMACHCc.393_396del (p.Gln131HisfsTer?)
c.222_225del (p.Gln74HisfsTer?)
c.198_201del (p.Gln66HisfsTer?)
1g.45508328A>CCA340132396MMACHCc.393A>C (p.Gln131His)
c.222A>C (p.Gln74His)
c.198A>C (p.Gln66His)
 ClinVar dbSNP
1g.45508328A>GCA417705570MMACHCc.393A>G (p.Gln131=)
c.222A>G (p.Gln74=)
c.198A>G (p.Gln66=)
1g.45508328A>TCA340132397MMACHCc.393A>T (p.Gln131His)
c.222A>T (p.Gln74His)
c.198A>T (p.Gln66His)
1g.45508330_45508332delCA522810655MMACHCc.395_397del (p.Arg132del)
c.224_226del (p.Arg75del)
c.200_202del (p.Arg67del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.45508329C>ACA827723MMACHCc.394C>A (p.Arg132=)
c.223C>A (p.Arg75=)
c.199C>A (p.Arg67=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508329C=CA1141580770MMACHCc.394C= (p.Arg132=)
c.223C= (p.Arg75=)
c.199C= (p.Arg67=)
1g.45508329C>GCA340132400MMACHCc.394C>G (p.Arg132Gly)
c.223C>G (p.Arg75Gly)
c.199C>G (p.Arg67Gly)
1g.45508329C>TCA251787MMACHCc.394C>T (p.Arg132Ter)
c.223C>T (p.Arg75Ter)
c.199C>T (p.Arg67Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508330G>ACA827724MMACHCc.395G>A (p.Arg132Gln)
c.224G>A (p.Arg75Gln)
c.200G>A (p.Arg67Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508330G>CCA827725MMACHCc.395G>C (p.Arg132Pro)
c.224G>C (p.Arg75Pro)
c.200G>C (p.Arg67Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508330G=CA1143656455MMACHCc.395G= (p.Arg132=)
c.224G= (p.Arg75=)
c.200G= (p.Arg67=)
1g.45508330G>TCA340132409MMACHCc.395G>T (p.Arg132Leu)
c.224G>T (p.Arg75Leu)
c.200G>T (p.Arg67Leu)
 dbSNP
1g.45508331A=CA2473783398MMACHCc.396A= (p.Arg132=)
c.225A= (p.Arg75=)
c.201A= (p.Arg67=)
1g.45508331A>CCA417705575MMACHCc.396A>C (p.Arg132=)
c.225A>C (p.Arg75=)
c.201A>C (p.Arg67=)
1g.45508331A>GCA417705573MMACHCc.396A>G (p.Arg132=)
c.225A>G (p.Arg75=)
c.201A>G (p.Arg67=)
 dbSNP COSMIC
1g.45508331A>TCA417705574MMACHCc.396A>T (p.Arg132=)
c.225A>T (p.Arg75=)
c.201A>T (p.Arg67=)
1g.45508332_45508334delCA913075169MMACHCc.397_399del (p.Gln133del)
c.226_228del (p.Gln76del)
c.202_204del (p.Gln68del)
1g.45508332C>ACA340132417MMACHCc.397C>A (p.Gln133Lys)
c.226C>A (p.Gln76Lys)
c.202C>A (p.Gln68Lys)
 gnomAD v4
1g.45508332C>GCA340132415MMACHCc.397C>G (p.Gln133Glu)
c.226C>G (p.Gln76Glu)
c.202C>G (p.Gln68Glu)
1g.45508332C>TCA340132413MMACHCc.397C>T (p.Gln133Ter)
c.226C>T (p.Gln76Ter)
c.202C>T (p.Gln68Ter)
1g.45508332_45508334delinsCAACA2473783399MMACHCc.397_399delinsCAA (p.Gln133=)
c.226_228delinsCAA (p.Gln76=)
c.202_204delinsCAA (p.Gln68=)
1g.45508333A>CCA340132419MMACHCc.398A>C (p.Gln133Pro)
c.227A>C (p.Gln76Pro)
c.203A>C (p.Gln68Pro)
1g.45508333A>GCA340132422MMACHCc.398A>G (p.Gln133Arg)
c.227A>G (p.Gln76Arg)
c.203A>G (p.Gln68Arg)
1g.45508333A>TCA340132424MMACHCc.398A>T (p.Gln133Leu)
c.227A>T (p.Gln76Leu)
c.203A>T (p.Gln68Leu)
1g.45508333_45508334delCA827726MMACHCc.398_399del (p.Gln133ArgfsTer5)
c.227_228del (p.Gln76ArgfsTer5)
c.203_204del (p.Gln68ArgfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508333_45508334delinsAACA1148287922MMACHCc.398_399delinsAA (p.Gln133=)
c.227_228delinsAA (p.Gln76=)
c.203_204delinsAA (p.Gln68=)
1g.45508334A>CCA340132426MMACHCc.399A>C (p.Gln133His)
c.228A>C (p.Gln76His)
c.204A>C (p.Gln68His)
1g.45508334A>GCA417705581MMACHCc.399A>G (p.Gln133=)
c.228A>G (p.Gln76=)
c.204A>G (p.Gln68=)
1g.45508334A>TCA340132427MMACHCc.399A>T (p.Gln133His)
c.228A>T (p.Gln76His)
c.204A>T (p.Gln68His)
1g.45508335G>ACA340132428MMACHCc.400G>A (p.Asp134Asn)
c.229G>A (p.Asp77Asn)
c.205G>A (p.Asp69Asn)
1g.45508335G>CCA340132429MMACHCc.400G>C (p.Asp134His)
c.229G>C (p.Asp77His)
c.205G>C (p.Asp69His)
1g.45508335G>TCA340132430MMACHCc.400G>T (p.Asp134Tyr)
c.229G>T (p.Asp77Tyr)
c.205G>T (p.Asp69Tyr)
1g.45508336A>CCA340132433MMACHCc.401A>C (p.Asp134Ala)
c.230A>C (p.Asp77Ala)
c.206A>C (p.Asp69Ala)
1g.45508336A>GCA340132432MMACHCc.401A>G (p.Asp134Gly)
c.230A>G (p.Asp77Gly)
c.206A>G (p.Asp69Gly)
1g.45508336A>TCA340132431MMACHCc.401A>T (p.Asp134Val)
c.230A>T (p.Asp77Val)
c.206A>T (p.Asp69Val)
1g.45508337T>ACA340132434MMACHCc.402T>A (p.Asp134Glu)
c.231T>A (p.Asp77Glu)
c.207T>A (p.Asp69Glu)
1g.45508337T>CCA827727MMACHCc.402T>C (p.Asp134=)
c.231T>C (p.Asp77=)
c.207T>C (p.Asp69=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508337T>GCA340132435MMACHCc.402T>G (p.Asp134Glu)
c.231T>G (p.Asp77Glu)
c.207T>G (p.Asp69Glu)
1g.45508337T=CA2473783400MMACHCc.402T= (p.Asp134=)
c.231T= (p.Asp77=)
c.207T= (p.Asp69=)
1g.45508338G>ACA340132436MMACHCc.403G>A (p.Val135Met)
c.232G>A (p.Val78Met)
c.208G>A (p.Val70Met)
 dbSNP gnomAD v4
1g.45508338G>CCA340132437MMACHCc.403G>C (p.Val135Leu)
c.232G>C (p.Val78Leu)
c.208G>C (p.Val70Leu)
1g.45508338G=CA2473783401MMACHCc.403G= (p.Val135=)
c.232G= (p.Val78=)
c.208G= (p.Val70=)
1g.45508338G>TCA10610331MMACHCc.403G>T (p.Val135Leu)
c.232G>T (p.Val78Leu)
c.208G>T (p.Val70Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508339T>ACA340132438MMACHCc.404T>A (p.Val135Glu)
c.233T>A (p.Val78Glu)
c.209T>A (p.Val70Glu)
1g.45508339T>CCA340132440MMACHCc.404T>C (p.Val135Ala)
c.233T>C (p.Val78Ala)
c.209T>C (p.Val70Ala)
1g.45508339T>GCA340132439MMACHCc.404T>G (p.Val135Gly)
c.233T>G (p.Val78Gly)
c.209T>G (p.Val70Gly)
1g.45508340G>ACA417705604MMACHCc.405G>A (p.Val135=)
c.234G>A (p.Val78=)
c.210G>A (p.Val70=)
 ClinVar gnomAD v4
1g.45508340G>CCA417705607MMACHCc.405G>C (p.Val135=)
c.234G>C (p.Val78=)
c.210G>C (p.Val70=)
1g.45508340G>TCA417705609MMACHCc.405G>T (p.Val135=)
c.234G>T (p.Val78=)
c.210G>T (p.Val70=)
1g.45508341G>ACA827728MMACHCc.406G>A (p.Glu136Lys)
c.235G>A (p.Glu79Lys)
c.211G>A (p.Glu71Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508341G>CCA340132441MMACHCc.406G>C (p.Glu136Gln)
c.235G>C (p.Glu79Gln)
c.211G>C (p.Glu71Gln)
1g.45508341G=CA1143970656MMACHCc.406G= (p.Glu136=)
c.235G= (p.Glu79=)
c.211G= (p.Glu71=)
1g.45508341G>TCA340132442MMACHCc.406G>T (p.Glu136Ter)
c.235G>T (p.Glu79Ter)
c.211G>T (p.Glu71Ter)
1g.45508342A>CCA340132443MMACHCc.407A>C (p.Glu136Ala)
c.236A>C (p.Glu79Ala)
c.212A>C (p.Glu71Ala)
1g.45508342A>GCA340132444MMACHCc.407A>G (p.Glu136Gly)
c.236A>G (p.Glu79Gly)
c.212A>G (p.Glu71Gly)
1g.45508342A>TCA340132445MMACHCc.407A>T (p.Glu136Val)
c.236A>T (p.Glu79Val)
c.212A>T (p.Glu71Val)
1g.45508343G>ACA417705617MMACHCc.408G>A (p.Glu136=)
c.237G>A (p.Glu79=)
c.213G>A (p.Glu71=)
1g.45508343G>CCA340132446MMACHCc.408G>C (p.Glu136Asp)
c.237G>C (p.Glu79Asp)
c.213G>C (p.Glu71Asp)
1g.45508343G>TCA340132447MMACHCc.408G>T (p.Glu136Asp)
c.237G>T (p.Glu79Asp)
c.213G>T (p.Glu71Asp)
1g.45508344G>ACA21829364MMACHCc.409G>A (p.Ala137Thr)
c.238G>A (p.Ala80Thr)
c.214G>A (p.Ala72Thr)
 dbSNP
1g.45508344G>CCA340132448MMACHCc.409G>C (p.Ala137Pro)
c.238G>C (p.Ala80Pro)
c.214G>C (p.Ala72Pro)
1g.45508344G=CA2473783402MMACHCc.409G= (p.Ala137=)
c.238G= (p.Ala80=)
c.214G= (p.Ala72=)
1g.45508344G>TCA340132449MMACHCc.409G>T (p.Ala137Ser)
c.238G>T (p.Ala80Ser)
c.214G>T (p.Ala72Ser)
1g.45508345C>ACA340132450MMACHCc.410C>A (p.Ala137Asp)
c.239C>A (p.Ala80Asp)
c.215C>A (p.Ala72Asp)
1g.45508345C>GCA340132452MMACHCc.410C>G (p.Ala137Gly)
c.239C>G (p.Ala80Gly)
c.215C>G (p.Ala72Gly)
1g.45508345C>TCA340132451MMACHCc.410C>T (p.Ala137Val)
c.239C>T (p.Ala80Val)
c.215C>T (p.Ala72Val)
1g.45508346T>ACA417705630MMACHCc.411T>A (p.Ala137=)
c.240T>A (p.Ala80=)
c.216T>A (p.Ala72=)
1g.45508346T>CCA827729MMACHCc.411T>C (p.Ala137=)
c.240T>C (p.Ala80=)
c.216T>C (p.Ala72=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508346T>GCA417705633MMACHCc.411T>G (p.Ala137=)
c.240T>G (p.Ala80=)
c.216T>G (p.Ala72=)
1g.45508346T=CA2473783403MMACHCc.411T= (p.Ala137=)
c.240T= (p.Ala80=)
c.216T= (p.Ala72=)
1g.45508347G>ACA340132457MMACHCc.412G>A (p.Asp138Asn)
c.241G>A (p.Asp81Asn)
c.217G>A (p.Asp73Asn)
 dbSNP
1g.45508347G>CCA340132459MMACHCc.412G>C (p.Asp138His)
c.241G>C (p.Asp81His)
c.217G>C (p.Asp73His)
1g.45508347G=CA2473783404MMACHCc.412G= (p.Asp138=)
c.241G= (p.Asp81=)
c.217G= (p.Asp73=)
1g.45508347G>TCA340132461MMACHCc.412G>T (p.Asp138Tyr)
c.241G>T (p.Asp81Tyr)
c.217G>T (p.Asp73Tyr)
 gnomAD v4
1g.45508348A=CA2473783405MMACHCc.413A= (p.Asp138=)
c.242A= (p.Asp81=)
c.218A= (p.Asp73=)
1g.45508348A>CCA340132465MMACHCc.413A>C (p.Asp138Ala)
c.242A>C (p.Asp81Ala)
c.218A>C (p.Asp73Ala)
1g.45508348A>GCA340132467MMACHCc.413A>G (p.Asp138Gly)
c.242A>G (p.Asp81Gly)
c.218A>G (p.Asp73Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.45508348A>TCA340132470MMACHCc.413A>T (p.Asp138Val)
c.242A>T (p.Asp81Val)
c.218A>T (p.Asp73Val)
1g.45508349C>ACA340132474MMACHCc.414C>A (p.Asp138Glu)
c.243C>A (p.Asp81Glu)
c.219C>A (p.Asp73Glu)
1g.45508349C=CA2473783406MMACHCc.414C= (p.Asp138=)
c.243C= (p.Asp81=)
c.219C= (p.Asp73=)
1g.45508349C>GCA340132476MMACHCc.414C>G (p.Asp138Glu)
c.243C>G (p.Asp81Glu)
c.219C>G (p.Asp73Glu)
1g.45508349C>TCA827730MMACHCc.414C>T (p.Asp138=)
c.243C>T (p.Asp81=)
c.219C>T (p.Asp73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508350C>ACA340132481MMACHCc.415C>A (p.Pro139Thr)
c.244C>A (p.Pro82Thr)
c.220C>A (p.Pro74Thr)
1g.45508350C>GCA340132483MMACHCc.415C>G (p.Pro139Ala)
c.244C>G (p.Pro82Ala)
c.220C>G (p.Pro74Ala)
1g.45508350C>TCA340132486MMACHCc.415C>T (p.Pro139Ser)
c.244C>T (p.Pro82Ser)
c.220C>T (p.Pro74Ser)
1g.45508350_45508351delinsCCCA2473783407MMACHCc.415_416delinsCC (p.Pro139=)
c.244_245delinsCC (p.Pro82=)
c.220_221delinsCC (p.Pro74=)
1g.45508350_45508351delinsTACA1139656102MMACHCc.415_416delinsTA (p.Pro139Ter)
c.244_245delinsTA (p.Pro82Ter)
c.220_221delinsTA (p.Pro74Ter)
 ClinVar dbSNP
1g.45508351C>ACA340132489MMACHCc.416C>A (p.Pro139Gln)
c.245C>A (p.Pro82Gln)
c.221C>A (p.Pro74Gln)
1g.45508351C>GCA340132493MMACHCc.416C>G (p.Pro139Arg)
c.245C>G (p.Pro82Arg)
c.221C>G (p.Pro74Arg)
1g.45508351C>TCA340132491MMACHCc.416C>T (p.Pro139Leu)
c.245C>T (p.Pro82Leu)
c.221C>T (p.Pro74Leu)
 COSMIC
1g.45508352A>CCA417705652MMACHCc.417A>C (p.Pro139=)
c.246A>C (p.Pro82=)
c.222A>C (p.Pro74=)
1g.45508352A>GCA417705648MMACHCc.417A>G (p.Pro139=)
c.246A>G (p.Pro82=)
c.222A>G (p.Pro74=)
1g.45508352A>TCA417705650MMACHCc.417A>T (p.Pro139=)
c.246A>T (p.Pro82=)
c.222A>T (p.Pro74=)
1g.45508353T>ACA340132496MMACHCc.418T>A (p.Trp140Arg)
c.247T>A (p.Trp83Arg)
c.223T>A (p.Trp75Arg)
1g.45508353T>CCA340132498MMACHCc.418T>C (p.Trp140Arg)
c.247T>C (p.Trp83Arg)
c.223T>C (p.Trp75Arg)
1g.45508353T>GCA340132500MMACHCc.418T>G (p.Trp140Gly)
c.247T>G (p.Trp83Gly)
c.223T>G (p.Trp75Gly)
 dbSNP
1g.45508353T=CA2473783409MMACHCc.418T= (p.Trp140=)
c.247T= (p.Trp83=)
c.223T= (p.Trp75=)
1g.45508353_45508354delinsTGCA2473783408MMACHCc.418_419delinsTG (p.Trp140=)
c.247_248delinsTG (p.Trp83=)
c.223_224delinsTG (p.Trp75=)
1g.45508354G>ACA340132502MMACHCc.419G>A (p.Trp140Ter)
c.248G>A (p.Trp83Ter)
c.224G>A (p.Trp75Ter)
 ClinVar dbSNP
1g.45508354G>CCA340132504MMACHCc.419G>C (p.Trp140Ser)
c.248G>C (p.Trp83Ser)
c.224G>C (p.Trp75Ser)
1g.45508354G>TCA340132506MMACHCc.419G>T (p.Trp140Leu)
c.248G>T (p.Trp83Leu)
c.224G>T (p.Trp75Leu)
1g.45508358dupCA2743432286MMACHCc.423dup (p.Asn142GlufsTer?)
c.252dup (p.Asn85GlufsTer?)
c.228dup (p.Asn77GlufsTer?)
1g.45508358delCA2473783410MMACHCc.423del (p.Asn142ThrfsTer22)
c.252del (p.Asn85ThrfsTer22)
c.228del (p.Asn77ThrfsTer22)
 dbSNP
1g.45508355G>ACA275943MMACHCc.420G>A (p.Trp140Ter)
c.249G>A (p.Trp83Ter)
c.225G>A (p.Trp75Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508355G>CCA340132509MMACHCc.420G>C (p.Trp140Cys)
c.249G>C (p.Trp83Cys)
c.225G>C (p.Trp75Cys)
1g.45508355G=CA2473783411MMACHCc.420G= (p.Trp140=)
c.249G= (p.Trp83=)
c.225G= (p.Trp75=)
1g.45508355G>TCA340132510MMACHCc.420G>T (p.Trp140Cys)
c.249G>T (p.Trp83Cys)
c.225G>T (p.Trp75Cys)
1g.45508356G>ACA340132516MMACHCc.421G>A (p.Gly141Arg)
c.250G>A (p.Gly84Arg)
c.226G>A (p.Gly76Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.45508356G>CCA340132514MMACHCc.421G>C (p.Gly141Arg)
c.250G>C (p.Gly84Arg)
c.226G>C (p.Gly76Arg)
1g.45508356G=CA2473783412MMACHCc.421G= (p.Gly141=)
c.250G= (p.Gly84=)
c.226G= (p.Gly76=)
1g.45508356G>TCA340132511MMACHCc.421G>T (p.Gly141Trp)
c.250G>T (p.Gly84Trp)
c.226G>T (p.Gly76Trp)
1g.45508357G>ACA827731MMACHCc.422G>A (p.Gly141Glu)
c.251G>A (p.Gly84Glu)
c.227G>A (p.Gly76Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508357G>CCA340132524MMACHCc.422G>C (p.Gly141Ala)
c.251G>C (p.Gly84Ala)
c.227G>C (p.Gly76Ala)
1g.45508357G=CA2473783413MMACHCc.422G= (p.Gly141=)
c.251G= (p.Gly84=)
c.227G= (p.Gly76=)
1g.45508357G>TCA340132522MMACHCc.422G>T (p.Gly141Val)
c.251G>T (p.Gly84Val)
c.227G>T (p.Gly76Val)
 gnomAD v4
1g.45508358G>ACA417705682MMACHCc.423G>A (p.Gly141=)
c.252G>A (p.Gly84=)
c.228G>A (p.Gly76=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508358G>CCA21829375MMACHCc.423G>C (p.Gly141=)
c.252G>C (p.Gly84=)
c.228G>C (p.Gly76=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508358G=CA2473783414MMACHCc.423G= (p.Gly141=)
c.252G= (p.Gly84=)
c.228G= (p.Gly76=)
1g.45508358G>TCA417705680MMACHCc.423G>T (p.Gly141=)
c.252G>T (p.Gly84=)
c.228G>T (p.Gly76=)
 ClinVar gnomAD v4
1g.45508359A>CCA340132526MMACHCc.424A>C (p.Asn142His)
c.253A>C (p.Asn85His)
c.229A>C (p.Asn77His)
1g.45508359A>GCA340132529MMACHCc.424A>G (p.Asn142Asp)
c.253A>G (p.Asn85Asp)
c.229A>G (p.Asn77Asp)
1g.45508359A>TCA340132531MMACHCc.424A>T (p.Asn142Tyr)
c.253A>T (p.Asn85Tyr)
c.229A>T (p.Asn77Tyr)
1g.45508360A=CA1144208703MMACHCc.425A= (p.Asn142=)
c.254A= (p.Asn85=)
c.230A= (p.Asn77=)
1g.45508360A>CCA340132534MMACHCc.425A>C (p.Asn142Thr)
c.254A>C (p.Asn85Thr)
c.230A>C (p.Asn77Thr)
1g.45508360A>GCA827732MMACHCc.425A>G (p.Asn142Ser)
c.254A>G (p.Asn85Ser)
c.230A>G (p.Asn77Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508360A>TCA340132538MMACHCc.425A>T (p.Asn142Ile)
c.254A>T (p.Asn85Ile)
c.230A>T (p.Asn77Ile)
1g.45508361C>ACA21829382MMACHCc.426C>A (p.Asn142Lys)
c.255C>A (p.Asn85Lys)
c.231C>A (p.Asn77Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508361C=CA1143082309MMACHCc.426C= (p.Asn142=)
c.255C= (p.Asn85=)
c.231C= (p.Asn77=)
1g.45508361C>GCA340132543MMACHCc.426C>G (p.Asn142Lys)
c.255C>G (p.Asn85Lys)
c.231C>G (p.Asn77Lys)
 gnomAD v4
1g.45508361C>TCA417705694MMACHCc.426C>T (p.Asn142=)
c.255C>T (p.Asn85=)
c.231C>T (p.Asn77=)
 gnomAD v4
1g.45508362C>ACA340132545MMACHCc.427C>A (p.Gln143Lys)
c.256C>A (p.Gln86Lys)
c.232C>A (p.Gln78Lys)
1g.45508362C=CA2473783415MMACHCc.427C= (p.Gln143=)
c.256C= (p.Gln86=)
c.232C= (p.Gln78=)
1g.45508362C>GCA340132547MMACHCc.427C>G (p.Gln143Glu)
c.256C>G (p.Gln86Glu)
c.232C>G (p.Gln78Glu)
 gnomAD v4
1g.45508362C>TCA340132549MMACHCc.427C>T (p.Gln143Ter)
c.256C>T (p.Gln86Ter)
c.232C>T (p.Gln78Ter)
 ClinVar dbSNP
1g.45508363A=CA2473783416MMACHCc.428A= (p.Gln143=)
c.257A= (p.Gln86=)
c.233A= (p.Gln78=)
1g.45508363A>CCA340132557MMACHCc.428A>C (p.Gln143Pro)
c.257A>C (p.Gln86Pro)
c.233A>C (p.Gln78Pro)
1g.45508363A>GCA21829386MMACHCc.428A>G (p.Gln143Arg)
c.257A>G (p.Gln86Arg)
c.233A>G (p.Gln78Arg)
 dbSNP
1g.45508363A>TCA340132553MMACHCc.428A>T (p.Gln143Leu)
c.257A>T (p.Gln86Leu)
c.233A>T (p.Gln78Leu)
1g.45508364G>ACA827733MMACHCc.429G>A (p.Gln143=)
c.258G>A (p.Gln86=)
c.234G>A (p.Gln78=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508364G>CCA340132561MMACHCc.429G>C (p.Gln143His)
c.258G>C (p.Gln86His)
c.234G>C (p.Gln78His)
1g.45508364G=CA2473783417MMACHCc.429G= (p.Gln143=)
c.258G= (p.Gln86=)
c.234G= (p.Gln78=)
1g.45508364G>TCA340132564MMACHCc.429G>T (p.Gln143His)
c.258G>T (p.Gln86His)
c.234G>T (p.Gln78His)
1g.45508365G>ACA340132567MMACHCc.429+1G>A (n.429+1G>A)
c.258+1G>A (n.258+1G>A)
c.234+1G>A (n.234+1G>A)
1g.45508365G>CCA340132569MMACHCc.429+1G>C (n.429+1G>C)
c.258+1G>C (n.258+1G>C)
c.234+1G>C (n.234+1G>C)
 ClinVar dbSNP gnomAD v4
1g.45508365G=CA2473783418MMACHCc.429+1G= (n.429+1G=)
c.258+1G= (n.258+1G=)
c.234+1G= (n.234+1G=)
1g.45508365G>TCA340132571MMACHCc.429+1G>T (n.429+1G>T)
c.258+1G>T (n.258+1G>T)
c.234+1G>T (n.234+1G>T)
1g.45508366T>ACA340132574MMACHCc.429+2T>A (n.429+2T>A)
c.258+2T>A (n.258+2T>A)
c.234+2T>A (n.234+2T>A)
1g.45508366T>CCA340132576MMACHCc.429+2T>C (n.429+2T>C)
c.258+2T>C (n.258+2T>C)
c.234+2T>C (n.234+2T>C)
 gnomAD v4
1g.45508366T>GCA340132579MMACHCc.429+2T>G (n.429+2T>G)
c.258+2T>G (n.258+2T>G)
c.234+2T>G (n.234+2T>G)
1g.45508371_45508395delCA2573132411MMACHCc.429+7_429+31del (n.429+7_429+31del)
c.258+7_258+31del (n.258+7_258+31del)
c.234+7_234+31del (n.234+7_234+31del)
 ClinVar dbSNP
1g.45508367G>ACA2645390886MMACHCc.429+3G>A (n.429+3G>A)
c.258+3G>A (n.258+3G>A)
c.234+3G>A (n.234+3G>A)
 gnomAD v4
1g.45508368A>GCA645523901MMACHCc.429+4A>G (n.429+4A>G)
c.258+4A>G (n.258+4A>G)
c.234+4A>G (n.234+4A>G)
 COSMIC
1g.45508369G>ACA2645390887MMACHCc.429+5G>A (n.429+5G>A)
c.258+5G>A (n.258+5G>A)
c.234+5G>A (n.234+5G>A)
 gnomAD v4
1g.45508369G>CCA827734MMACHCc.429+5G>C (n.429+5G>C)
c.258+5G>C (n.258+5G>C)
c.234+5G>C (n.234+5G>C)
 dbSNP ExAC gnomAD v2
1g.45508369G=CA2473783419MMACHCc.429+5G= (n.429+5G=)
c.258+5G= (n.258+5G=)
c.234+5G= (n.234+5G=)
1g.45508371G>ACA2573132412MMACHCc.429+7G>A (n.429+7G>A)
c.258+7G>A (n.258+7G>A)
c.234+7G>A (n.234+7G>A)
 ClinVar dbSNP gnomAD v4
1g.45508371G>CCA522810662MMACHCc.429+7G>C (n.429+7G>C)
c.258+7G>C (n.258+7G>C)
c.234+7G>C (n.234+7G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.45508371G=CA2473783420MMACHCc.429+7G= (n.429+7G=)
c.258+7G= (n.258+7G=)
c.234+7G= (n.234+7G=)
1g.45508372G>ACA2645390888MMACHCc.429+8G>A (n.429+8G>A)
c.258+8G>A (n.258+8G>A)
c.234+8G>A (n.234+8G>A)
 gnomAD v4
1g.45508373G>ACA2645390889MMACHCc.429+9G>A (n.429+9G>A)
c.258+9G>A (n.258+9G>A)
c.234+9G>A (n.234+9G>A)
 gnomAD v4
1g.45508373G>CCA522810663MMACHCc.429+9G>C (n.429+9G>C)
c.258+9G>C (n.258+9G>C)
c.234+9G>C (n.234+9G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508373G=CA2473783421MMACHCc.429+9G= (n.429+9G=)
c.258+9G= (n.258+9G=)
c.234+9G= (n.234+9G=)
1g.45508373G>TCA2524783638MMACHCc.429+9G>T (n.429+9G>T)
c.258+9G>T (n.258+9G>T)
c.234+9G>T (n.234+9G>T)
1g.45508377delCA2739272545MMACHCc.429+13del (n.429+13del)
c.258+13del (n.258+13del)
c.234+13del (n.234+13del)
 ClinVar
1g.45508376A>CCA2697552412MMACHCc.429+12A>C (n.429+12A>C)
c.258+12A>C (n.258+12A>C)
c.234+12A>C (n.234+12A>C)
 ClinVar
1g.45508378T>ACA522810664MMACHCc.429+14T>A (n.429+14T>A)
c.258+14T>A (n.258+14T>A)
c.234+14T>A (n.234+14T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508378T>CCA2597128707MMACHCc.429+14T>C (n.429+14T>C)
c.258+14T>C (n.258+14T>C)
c.234+14T>C (n.234+14T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.45508378T>GCA827735MMACHCc.429+14T>G (n.429+14T>G)
c.258+14T>G (n.258+14T>G)
c.234+14T>G (n.234+14T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508378T=CA1143781954MMACHCc.429+14T= (n.429+14T=)
c.258+14T= (n.258+14T=)
c.234+14T= (n.234+14T=)
1g.45508379G>ACA2645390890MMACHCc.429+15G>A (n.429+15G>A)
c.258+15G>A (n.258+15G>A)
c.234+15G>A (n.234+15G>A)
 gnomAD v4
1g.45508379G>TCA2645390891MMACHCc.429+15G>T (n.429+15G>T)
c.258+15G>T (n.258+15G>T)
c.234+15G>T (n.234+15G>T)
 gnomAD v4
1g.45508379_45508383delinsGTAAACA2473783422MMACHCc.429+15_429+19delinsGTAAA (n.429+15_429+19delinsGTAAA)
c.258+15_258+19delinsGTAAA (n.258+15_258+19delinsGTAAA)
c.234+15_234+19delinsGTAAA (n.234+15_234+19delinsGTAAA)
1g.45508382_45508385delCA827736MMACHCc.429+18_429+21del (n.429+18_429+21del)
c.258+18_258+21del (n.258+18_258+21del)
c.234+18_234+21del (n.234+18_234+21del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508382_45508384delinsAATCA2473783423MMACHCc.429+18_429+20delinsAAT (n.429+18_429+20delinsAAT)
c.258+18_258+20delinsAAT (n.258+18_258+20delinsAAT)
c.234+18_234+20delinsAAT (n.234+18_234+20delinsAAT)
1g.45508384_45508385delCA736190626MMACHCc.429+20_429+21del (n.429+20_429+21del)
c.258+20_258+21del (n.258+20_258+21del)
c.234+20_234+21del (n.234+20_234+21del)
 dbSNP
1g.45508384T>CCA2580062920MMACHCc.429+20T>C (n.429+20T>C)
c.258+20T>C (n.258+20T>C)
c.234+20T>C (n.234+20T>C)
 ClinVar gnomAD v4
1g.45508384T>GCA2473783425MMACHCc.429+20T>G (n.429+20T>G)
c.258+20T>G (n.258+20T>G)
c.234+20T>G (n.234+20T>G)
 ClinVar dbSNP
1g.45508384T=CA2473783424MMACHCc.429+20T= (n.429+20T=)
c.258+20T= (n.258+20T=)
c.234+20T= (n.234+20T=)
1g.45508385A>GCA2574352253MMACHCc.429+21A>G (n.429+21A>G)
c.258+21A>G (n.258+21A>G)
c.234+21A>G (n.234+21A>G)
 gnomAD v4
1g.45508386G>CCA2645390892MMACHCc.429+22G>C (n.429+22G>C)
c.258+22G>C (n.258+22G>C)
c.234+22G>C (n.234+22G>C)
 gnomAD v4
1g.45508388G>ACA522810665MMACHCc.429+24G>A (n.429+24G>A)
c.258+24G>A (n.258+24G>A)
c.234+24G>A (n.234+24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508388G=CA2473783426MMACHCc.429+24G= (n.429+24G=)
c.258+24G= (n.258+24G=)
c.234+24G= (n.234+24G=)
1g.45508389G>ACA2645390893MMACHCc.429+25G>A (n.429+25G>A)
c.258+25G>A (n.258+25G>A)
c.234+25G>A (n.234+25G>A)
 gnomAD v4
1g.45508390C>ACA2473783428MMACHCc.429+26C>A (n.429+26C>A)
c.258+26C>A (n.258+26C>A)
c.234+26C>A (n.234+26C>A)
 dbSNP
1g.45508390C=CA2473783427MMACHCc.429+26C= (n.429+26C=)
c.258+26C= (n.258+26C=)
c.234+26C= (n.234+26C=)
1g.45508390C>TCA2645390894MMACHCc.429+26C>T (n.429+26C>T)
c.258+26C>T (n.258+26C>T)
c.234+26C>T (n.234+26C>T)
 gnomAD v4
1g.45508391T>CCA2645390895MMACHCc.429+27T>C (n.429+27T>C)
c.258+27T>C (n.258+27T>C)
c.234+27T>C (n.234+27T>C)
 gnomAD v4
1g.45508391T>GCA522810666MMACHCc.429+27T>G (n.429+27T>G)
c.258+27T>G (n.258+27T>G)
c.234+27T>G (n.234+27T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.45508391T=CA2473783429MMACHCc.429+27T= (n.429+27T=)
c.258+27T= (n.258+27T=)
c.234+27T= (n.234+27T=)
1g.45508392G>ACA2645390896MMACHCc.429+28G>A (n.429+28G>A)
c.258+28G>A (n.258+28G>A)
c.234+28G>A (n.234+28G>A)
 gnomAD v4
1g.45508392G>TCA2743432293MMACHCc.429+28G>T (n.429+28G>T)
c.258+28G>T (n.258+28G>T)
c.234+28G>T (n.234+28G>T)
1g.45508393A=CA2473783430MMACHCc.429+29A= (n.429+29A=)
c.258+29A= (n.258+29A=)
c.234+29A= (n.234+29A=)
1g.45508393A>CCA522810667MMACHCc.429+29A>C (n.429+29A>C)
c.258+29A>C (n.258+29A>C)
c.234+29A>C (n.234+29A>C)
 dbSNP gnomAD v2 gnomAD v4
1g.45508394G>CCA2645390897MMACHCc.429+30G>C (n.429+30G>C)
c.258+30G>C (n.258+30G>C)
c.234+30G>C (n.234+30G>C)
 gnomAD v4
1g.45508396T>CCA21829413MMACHCc.429+32T>C (n.429+32T>C)
c.258+32T>C (n.258+32T>C)
c.234+32T>C (n.234+32T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508396T>GCA2574352254MMACHCc.429+32T>G (n.429+32T>G)
c.258+32T>G (n.258+32T>G)
c.234+32T>G (n.234+32T>G)
 gnomAD v4
1g.45508396T=CA2473783431MMACHCc.429+32T= (n.429+32T=)
c.258+32T= (n.258+32T=)
c.234+32T= (n.234+32T=)
1g.45508398G>CCA2645390898MMACHCc.429+34G>C (n.429+34G>C)
c.258+34G>C (n.258+34G>C)
c.234+34G>C (n.234+34G>C)
 gnomAD v4
1g.45508398G>TCA2645390899MMACHCc.429+34G>T (n.429+34G>T)
c.258+34G>T (n.258+34G>T)
c.234+34G>T (n.234+34G>T)
 gnomAD v4
1g.45508401T>CCA2645390900MMACHCc.429+37T>C (n.429+37T>C)
c.258+37T>C (n.258+37T>C)
c.234+37T>C (n.234+37T>C)
 gnomAD v4
1g.45508402G>ACA827737MMACHCc.429+38G>A (n.429+38G>A)
c.258+38G>A (n.258+38G>A)
c.234+38G>A (n.234+38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508402G=CA2473783432MMACHCc.429+38G= (n.429+38G=)
c.258+38G= (n.258+38G=)
c.234+38G= (n.234+38G=)
1g.45508403G>CCA2473783434MMACHCc.429+39G>C (n.429+39G>C)
c.258+39G>C (n.258+39G>C)
c.234+39G>C (n.234+39G>C)
 dbSNP gnomAD v4
1g.45508403G=CA2473783433MMACHCc.429+39G= (n.429+39G=)
c.258+39G= (n.258+39G=)
c.234+39G= (n.234+39G=)
1g.45508403G>TCA522810668MMACHCc.429+39G>T (n.429+39G>T)
c.258+39G>T (n.258+39G>T)
c.234+39G>T (n.234+39G>T)
 dbSNP gnomAD v2
1g.45508404T>CCA827738MMACHCc.429+40T>C (n.429+40T>C)
c.258+40T>C (n.258+40T>C)
c.234+40T>C (n.234+40T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508404T>GCA2473783435MMACHCc.429+40T>G (n.429+40T>G)
c.258+40T>G (n.258+40T>G)
c.234+40T>G (n.234+40T>G)
 dbSNP
1g.45508404T=CA1143951868MMACHCc.429+40T= (n.429+40T=)
c.258+40T= (n.258+40T=)
c.234+40T= (n.234+40T=)
1g.45508405A=CA2473783436MMACHCc.429+41A= (n.429+41A=)
c.258+41A= (n.258+41A=)
c.234+41A= (n.234+41A=)
1g.45508405A>GCA2473783437MMACHCc.429+41A>G (n.429+41A>G)
c.258+41A>G (n.258+41A>G)
c.234+41A>G (n.234+41A>G)
 dbSNP
1g.45508407delCA2574352255MMACHCc.429+43del (n.429+43del)
c.258+43del (n.258+43del)
c.234+43del (n.234+43del)
1g.45508407A=CA2473783438MMACHCc.429+43A= (n.429+43A=)
c.258+43A= (n.258+43A=)
c.234+43A= (n.234+43A=)
1g.45508407A>GCA522810669MMACHCc.429+43A>G (n.429+43A>G)
c.258+43A>G (n.258+43A>G)
c.234+43A>G (n.234+43A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.45508408G>ACA522810670MMACHCc.429+44G>A (n.429+44G>A)
c.258+44G>A (n.258+44G>A)
c.234+44G>A (n.234+44G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508408G>CCA827739MMACHCc.429+44G>C (n.429+44G>C)
c.258+44G>C (n.258+44G>C)
c.234+44G>C (n.234+44G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508408G=CA2473783439MMACHCc.429+44G= (n.429+44G=)
c.258+44G= (n.258+44G=)
c.234+44G= (n.234+44G=)
1g.45508409G>ACA522810671MMACHCc.429+45G>A (n.429+45G>A)
c.258+45G>A (n.258+45G>A)
c.234+45G>A (n.234+45G>A)
 dbSNP gnomAD v2
1g.45508409G=CA2473783440MMACHCc.429+45G= (n.429+45G=)
c.258+45G= (n.258+45G=)
c.234+45G= (n.234+45G=)
1g.45508409G>TCA827740MMACHCc.429+45G>T (n.429+45G>T)
c.258+45G>T (n.258+45G>T)
c.234+45G>T (n.234+45G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508410C>ACA2645390901MMACHCc.429+46C>A (n.429+46C>A)
c.258+46C>A (n.258+46C>A)
c.234+46C>A (n.234+46C>A)
 gnomAD v4
1g.45508410C=CA2473783441MMACHCc.429+46C= (n.429+46C=)
c.258+46C= (n.258+46C=)
c.234+46C= (n.234+46C=)
1g.45508410C>TCA2473783442MMACHCc.429+46C>T (n.429+46C>T)
c.258+46C>T (n.258+46C>T)
c.234+46C>T (n.234+46C>T)
 dbSNP
1g.45508411C>ACA2542918589MMACHCc.429+47C>A (n.429+47C>A)
c.258+47C>A (n.258+47C>A)
c.234+47C>A (n.234+47C>A)
1g.45508411C=CA2473783443MMACHCc.429+47C= (n.429+47C=)
c.258+47C= (n.258+47C=)
c.234+47C= (n.234+47C=)
1g.45508411C>TCA736190684MMACHCc.429+47C>T (n.429+47C>T)
c.258+47C>T (n.258+47C>T)
c.234+47C>T (n.234+47C>T)
 dbSNP gnomAD v4
1g.45508412T>CCA827741MMACHCc.429+48T>C (n.429+48T>C)
c.258+48T>C (n.258+48T>C)
c.234+48T>C (n.234+48T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508412T=CA1147704710MMACHCc.429+48T= (n.429+48T=)
c.258+48T= (n.258+48T=)
c.234+48T= (n.234+48T=)
1g.45508412_45508416delinsTCTCCCA2473783444MMACHCc.429+48_429+52delinsTCTCC (n.429+48_429+52delinsTCTCC)
c.258+48_258+52delinsTCTCC (n.258+48_258+52delinsTCTCC)
c.234+48_234+52delinsTCTCC (n.234+48_234+52delinsTCTCC)
1g.45508413C=CA2473783445MMACHCc.429+49C= (n.429+49C=)
c.258+49C= (n.258+49C=)
c.234+49C= (n.234+49C=)
1g.45508413C>GCA522810672MMACHCc.429+49C>G (n.429+49C>G)
c.258+49C>G (n.258+49C>G)
c.234+49C>G (n.234+49C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508413C>TCA827742MMACHCc.429+49C>T (n.429+49C>T)
c.258+49C>T (n.258+49C>T)
c.234+49C>T (n.234+49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508415_45508418delCA21829427MMACHCc.429+51_429+54del (n.429+51_429+54del)
c.258+51_258+54del (n.258+51_258+54del)
c.234+51_234+54del (n.234+51_234+54del)
 dbSNP
1g.45508414T>GCA522810673MMACHCc.429+50T>G (n.429+50T>G)
c.258+50T>G (n.258+50T>G)
c.234+50T>G (n.234+50T>G)
 dbSNP gnomAD v2
1g.45508414T=CA2473783446MMACHCc.429+50T= (n.429+50T=)
c.258+50T= (n.258+50T=)
c.234+50T= (n.234+50T=)
1g.45508415C=CA1149107770MMACHCc.429+51C= (n.429+51C=)
c.258+51C= (n.258+51C=)
c.234+51C= (n.234+51C=)
1g.45508415C>TCA827743MMACHCc.429+51C>T (n.429+51C>T)
c.258+51C>T (n.258+51C>T)
c.234+51C>T (n.234+51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508416C>ACA2645390903MMACHCc.429+52C>A (n.429+52C>A)
c.258+52C>A (n.258+52C>A)
c.234+52C>A (n.234+52C>A)
 gnomAD v4
1g.45508416C>TCA2645390902MMACHCc.429+52C>T (n.429+52C>T)
c.258+52C>T (n.258+52C>T)
c.234+52C>T (n.234+52C>T)
 gnomAD v4
1g.45508417C>ACA2574352256MMACHCc.429+53C>A (n.429+53C>A)
c.258+53C>A (n.258+53C>A)
c.234+53C>A (n.234+53C>A)
 gnomAD v4
1g.45508419A=CA2473783447MMACHCc.429+55A= (n.429+55A=)
c.258+55A= (n.258+55A=)
c.234+55A= (n.234+55A=)
1g.45508419A>GCA736190698MMACHCc.429+55A>G (n.429+55A>G)
c.258+55A>G (n.258+55A>G)
c.234+55A>G (n.234+55A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.45508419A>TCA2473783448MMACHCc.429+55A>T (n.429+55A>T)
c.258+55A>T (n.258+55A>T)
c.234+55A>T (n.234+55A>T)
 dbSNP
1g.45508420C>ACA2645390904MMACHCc.429+56C>A (n.429+56C>A)
c.258+56C>A (n.258+56C>A)
c.234+56C>A (n.234+56C>A)
 gnomAD v4
1g.45508421C>ACA2645390905MMACHCc.429+57C>A (n.429+57C>A)
c.258+57C>A (n.258+57C>A)
c.234+57C>A (n.234+57C>A)
 gnomAD v4
1g.45508421C>GCA2645390906MMACHCc.429+57C>G (n.429+57C>G)
c.258+57C>G (n.258+57C>G)
c.234+57C>G (n.234+57C>G)
 gnomAD v4
1g.45508422A>GCA2645390907MMACHCc.429+58A>G (n.429+58A>G)
c.258+58A>G (n.258+58A>G)
c.234+58A>G (n.234+58A>G)
 gnomAD v4

Number of alleles fetched