Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018416C>ACA420603412HJVc.942G>T (p.Leu314=)
c.264G>T (p.Leu88=)
c.603G>T (p.Leu201=)
1g.146018416C>GCA420603411HJVc.942G>C (p.Leu314=)
c.264G>C (p.Leu88=)
c.603G>C (p.Leu201=)
1g.146018416C>TCA420603410HJVc.942G>A (p.Leu314=)
c.264G>A (p.Leu88=)
c.603G>A (p.Leu201=)
ClinVar dbSNP
1g.146018417A>CCA342135341HJVc.941T>G (p.Leu314Arg)
c.263T>G (p.Leu88Arg)
c.602T>G (p.Leu201Arg)
1g.146018417A>GCA342135328HJVc.941T>C (p.Leu314Pro)
c.263T>C (p.Leu88Pro)
c.602T>C (p.Leu201Pro)
1g.146018417A>TCA342135338HJVc.941T>A (p.Leu314Gln)
c.263T>A (p.Leu88Gln)
c.602T>A (p.Leu201Gln)
1g.146018418G>ACA420603416HJVc.940C>T (p.Leu314=)
c.262C>T (p.Leu88=)
c.601C>T (p.Leu201=)
ClinVar dbSNP
1g.146018418G>CCA342135347HJVc.940C>G (p.Leu314Val)
c.262C>G (p.Leu88Val)
c.601C>G (p.Leu201Val)
1g.146018418G=CA1198820958HJVc.940C= (p.Leu314=)
c.262C= (p.Leu88=)
c.601C= (p.Leu201=)
1g.146018418G>TCA342135357HJVc.940C>A (p.Leu314Met)
c.262C>A (p.Leu88Met)
c.601C>A (p.Leu201Met)
1g.146018419G>ACA420603421HJVc.939C>T (p.Asp313=)
c.261C>T (p.Asp87=)
c.600C>T (p.Asp200=)
1g.146018419G>CCA342135371HJVc.939C>G (p.Asp313Glu)
c.261C>G (p.Asp87Glu)
c.600C>G (p.Asp200Glu)
1g.146018419G>TCA342135372HJVc.939C>A (p.Asp313Glu)
c.261C>A (p.Asp87Glu)
c.600C>A (p.Asp200Glu)
gnomAD v4
1g.146018420T>ACA342135373HJVc.938A>T (p.Asp313Val)
c.260A>T (p.Asp87Val)
c.599A>T (p.Asp200Val)
1g.146018420T>CCA342135374HJVc.938A>G (p.Asp313Gly)
c.260A>G (p.Asp87Gly)
c.599A>G (p.Asp200Gly)
1g.146018420T>GCA342135375HJVc.938A>C (p.Asp313Ala)
c.260A>C (p.Asp87Ala)
c.599A>C (p.Asp200Ala)
dbSNP
1g.146018420T=CA1198820959HJVc.938A= (p.Asp313=)
c.260A= (p.Asp87=)
c.599A= (p.Asp200=)
1g.146018421C>ACA29823658HJVc.937G>T (p.Asp313Tyr)
c.259G>T (p.Asp87Tyr)
c.598G>T (p.Asp200Tyr)
1g.146018421C=CA1198820960HJVc.937G= (p.Asp313=)
c.259G= (p.Asp87=)
c.598G= (p.Asp200=)
1g.146018421C>GCA29823662HJVc.937G>C (p.Asp313His)
c.259G>C (p.Asp87His)
c.598G>C (p.Asp200His)
1g.146018421C>TCA1053923HJVc.937G>A (p.Asp313Asn)
c.259G>A (p.Asp87Asn)
c.598G>A (p.Asp200Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.146018422C>ACA342135390HJVc.936G>T (p.Gln312His)
c.258G>T (p.Gln86His)
c.597G>T (p.Gln199His)
1g.146018422C=CA1198820961HJVc.936G= (p.Gln312=)
c.258G= (p.Gln86=)
c.597G= (p.Gln199=)
1g.146018422C>GCA342135388HJVc.936G>C (p.Gln312His)
c.258G>C (p.Gln86His)
c.597G>C (p.Gln199His)
1g.146018422C>TCA420603424HJVc.936G>A (p.Gln312=)
c.258G>A (p.Gln86=)
c.597G>A (p.Gln199=)
dbSNP
1g.146018423T>ACA342135392HJVc.935A>T (p.Gln312Leu)
c.257A>T (p.Gln86Leu)
c.596A>T (p.Gln199Leu)
1g.146018423T>CCA342135395HJVc.935A>G (p.Gln312Arg)
c.257A>G (p.Gln86Arg)
c.596A>G (p.Gln199Arg)
1g.146018423T>GCA342135400HJVc.935A>C (p.Gln312Pro)
c.257A>C (p.Gln86Pro)
c.596A>C (p.Gln199Pro)
1g.146018424G>ACA342135407HJVc.934C>T (p.Gln312Ter)
c.256C>T (p.Gln86Ter)
c.595C>T (p.Gln199Ter)
dbSNP gnomAD v4
1g.146018424G>CCA342135411HJVc.934C>G (p.Gln312Glu)
c.256C>G (p.Gln86Glu)
c.595C>G (p.Gln199Glu)
1g.146018424G=CA1198820962HJVc.934C= (p.Gln312=)
c.256C= (p.Gln86=)
c.595C= (p.Gln199=)
1g.146018424G>TCA342135421HJVc.934C>A (p.Gln312Lys)
c.256C>A (p.Gln86Lys)
c.595C>A (p.Gln199Lys)
1g.146018425T>ACA342135432HJVc.933A>T (p.Glu311Asp)
c.255A>T (p.Glu85Asp)
c.594A>T (p.Glu198Asp)
1g.146018425T>CCA420603428HJVc.933A>G (p.Glu311=)
c.255A>G (p.Glu85=)
c.594A>G (p.Glu198=)
gnomAD v4
1g.146018425T>GCA342135423HJVc.933A>C (p.Glu311Asp)
c.255A>C (p.Glu85Asp)
c.594A>C (p.Glu198Asp)
1g.146018426T>ACA342135436HJVc.932A>T (p.Glu311Val)
c.254A>T (p.Glu85Val)
c.593A>T (p.Glu198Val)
1g.146018426T>CCA342135438HJVc.932A>G (p.Glu311Gly)
c.254A>G (p.Glu85Gly)
c.593A>G (p.Glu198Gly)
1g.146018426T>GCA342135442HJVc.932A>C (p.Glu311Ala)
c.254A>C (p.Glu85Ala)
c.593A>C (p.Glu198Ala)
1g.146018427C>ACA342135443HJVc.931G>T (p.Glu311Ter)
c.253G>T (p.Glu85Ter)
c.592G>T (p.Glu198Ter)
gnomAD v4
1g.146018427C>GCA342135444HJVc.931G>C (p.Glu311Gln)
c.253G>C (p.Glu85Gln)
c.592G>C (p.Glu198Gln)
1g.146018427C>TCA342135445HJVc.931G>A (p.Glu311Lys)
c.253G>A (p.Glu85Lys)
c.592G>A (p.Glu198Lys)
1g.146018428A>CCA420603434HJVc.930T>G (p.Ala310=)
c.252T>G (p.Ala84=)
c.591T>G (p.Ala197=)
1g.146018428A>GCA420603435HJVc.930T>C (p.Ala310=)
c.252T>C (p.Ala84=)
c.591T>C (p.Ala197=)
1g.146018428A>TCA420603433HJVc.930T>A (p.Ala310=)
c.252T>A (p.Ala84=)
c.591T>A (p.Ala197=)
1g.146018429G>ACA342135447HJVc.929C>T (p.Ala310Val)
c.251C>T (p.Ala84Val)
c.590C>T (p.Ala197Val)
1g.146018429G>CCA1053922HJVc.929C>G (p.Ala310Gly)
c.251C>G (p.Ala84Gly)
c.590C>G (p.Ala197Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018429G=CA1140148041HJVc.929C= (p.Ala310=)
c.251C= (p.Ala84=)
c.590C= (p.Ala197=)
1g.146018429G>TCA342135448HJVc.929C>A (p.Ala310Asp)
c.251C>A (p.Ala84Asp)
c.590C>A (p.Ala197Asp)
gnomAD v4
1g.146018430C>ACA342135449HJVc.928G>T (p.Ala310Ser)
c.250G>T (p.Ala84Ser)
c.589G>T (p.Ala197Ser)
1g.146018430C>GCA342135450HJVc.928G>C (p.Ala310Pro)
c.250G>C (p.Ala84Pro)
c.589G>C (p.Ala197Pro)

Number of alleles fetched