Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.146018416C>A | CA420603412 | HJV | c.942G>T (p.Leu314=) c.264G>T (p.Leu88=) c.603G>T (p.Leu201=) | |
1 | g.146018416C>G | CA420603411 | HJV | c.942G>C (p.Leu314=) c.264G>C (p.Leu88=) c.603G>C (p.Leu201=) | |
1 | g.146018416C>T | CA420603410 | HJV | c.942G>A (p.Leu314=) c.264G>A (p.Leu88=) c.603G>A (p.Leu201=) | ClinVar dbSNP |
1 | g.146018417A>C | CA342135341 | HJV | c.941T>G (p.Leu314Arg) c.263T>G (p.Leu88Arg) c.602T>G (p.Leu201Arg) | |
1 | g.146018417A>G | CA342135328 | HJV | c.941T>C (p.Leu314Pro) c.263T>C (p.Leu88Pro) c.602T>C (p.Leu201Pro) | |
1 | g.146018417A>T | CA342135338 | HJV | c.941T>A (p.Leu314Gln) c.263T>A (p.Leu88Gln) c.602T>A (p.Leu201Gln) | |
1 | g.146018418G>A | CA420603416 | HJV | c.940C>T (p.Leu314=) c.262C>T (p.Leu88=) c.601C>T (p.Leu201=) | ClinVar dbSNP |
1 | g.146018418G>C | CA342135347 | HJV | c.940C>G (p.Leu314Val) c.262C>G (p.Leu88Val) c.601C>G (p.Leu201Val) | |
1 | g.146018418G= | CA1198820958 | HJV | c.940C= (p.Leu314=) c.262C= (p.Leu88=) c.601C= (p.Leu201=) | |
1 | g.146018418G>T | CA342135357 | HJV | c.940C>A (p.Leu314Met) c.262C>A (p.Leu88Met) c.601C>A (p.Leu201Met) | |
1 | g.146018419G>A | CA420603421 | HJV | c.939C>T (p.Asp313=) c.261C>T (p.Asp87=) c.600C>T (p.Asp200=) | |
1 | g.146018419G>C | CA342135371 | HJV | c.939C>G (p.Asp313Glu) c.261C>G (p.Asp87Glu) c.600C>G (p.Asp200Glu) | |
1 | g.146018419G>T | CA342135372 | HJV | c.939C>A (p.Asp313Glu) c.261C>A (p.Asp87Glu) c.600C>A (p.Asp200Glu) | gnomAD v4 |
1 | g.146018420T>A | CA342135373 | HJV | c.938A>T (p.Asp313Val) c.260A>T (p.Asp87Val) c.599A>T (p.Asp200Val) | |
1 | g.146018420T>C | CA342135374 | HJV | c.938A>G (p.Asp313Gly) c.260A>G (p.Asp87Gly) c.599A>G (p.Asp200Gly) | |
1 | g.146018420T>G | CA342135375 | HJV | c.938A>C (p.Asp313Ala) c.260A>C (p.Asp87Ala) c.599A>C (p.Asp200Ala) | dbSNP |
1 | g.146018420T= | CA1198820959 | HJV | c.938A= (p.Asp313=) c.260A= (p.Asp87=) c.599A= (p.Asp200=) | |
1 | g.146018421C>A | CA29823658 | HJV | c.937G>T (p.Asp313Tyr) c.259G>T (p.Asp87Tyr) c.598G>T (p.Asp200Tyr) | |
1 | g.146018421C= | CA1198820960 | HJV | c.937G= (p.Asp313=) c.259G= (p.Asp87=) c.598G= (p.Asp200=) | |
1 | g.146018421C>G | CA29823662 | HJV | c.937G>C (p.Asp313His) c.259G>C (p.Asp87His) c.598G>C (p.Asp200His) | |
1 | g.146018421C>T | CA1053923 | HJV | c.937G>A (p.Asp313Asn) c.259G>A (p.Asp87Asn) c.598G>A (p.Asp200Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018422C>A | CA342135390 | HJV | c.936G>T (p.Gln312His) c.258G>T (p.Gln86His) c.597G>T (p.Gln199His) | |
1 | g.146018422C= | CA1198820961 | HJV | c.936G= (p.Gln312=) c.258G= (p.Gln86=) c.597G= (p.Gln199=) | |
1 | g.146018422C>G | CA342135388 | HJV | c.936G>C (p.Gln312His) c.258G>C (p.Gln86His) c.597G>C (p.Gln199His) | |
1 | g.146018422C>T | CA420603424 | HJV | c.936G>A (p.Gln312=) c.258G>A (p.Gln86=) c.597G>A (p.Gln199=) | dbSNP |
1 | g.146018423T>A | CA342135392 | HJV | c.935A>T (p.Gln312Leu) c.257A>T (p.Gln86Leu) c.596A>T (p.Gln199Leu) | |
1 | g.146018423T>C | CA342135395 | HJV | c.935A>G (p.Gln312Arg) c.257A>G (p.Gln86Arg) c.596A>G (p.Gln199Arg) | |
1 | g.146018423T>G | CA342135400 | HJV | c.935A>C (p.Gln312Pro) c.257A>C (p.Gln86Pro) c.596A>C (p.Gln199Pro) | |
1 | g.146018424G>A | CA342135407 | HJV | c.934C>T (p.Gln312Ter) c.256C>T (p.Gln86Ter) c.595C>T (p.Gln199Ter) | dbSNP gnomAD v4 |
1 | g.146018424G>C | CA342135411 | HJV | c.934C>G (p.Gln312Glu) c.256C>G (p.Gln86Glu) c.595C>G (p.Gln199Glu) | |
1 | g.146018424G= | CA1198820962 | HJV | c.934C= (p.Gln312=) c.256C= (p.Gln86=) c.595C= (p.Gln199=) | |
1 | g.146018424G>T | CA342135421 | HJV | c.934C>A (p.Gln312Lys) c.256C>A (p.Gln86Lys) c.595C>A (p.Gln199Lys) | |
1 | g.146018425T>A | CA342135432 | HJV | c.933A>T (p.Glu311Asp) c.255A>T (p.Glu85Asp) c.594A>T (p.Glu198Asp) | |
1 | g.146018425T>C | CA420603428 | HJV | c.933A>G (p.Glu311=) c.255A>G (p.Glu85=) c.594A>G (p.Glu198=) | gnomAD v4 |
1 | g.146018425T>G | CA342135423 | HJV | c.933A>C (p.Glu311Asp) c.255A>C (p.Glu85Asp) c.594A>C (p.Glu198Asp) | |
1 | g.146018426T>A | CA342135436 | HJV | c.932A>T (p.Glu311Val) c.254A>T (p.Glu85Val) c.593A>T (p.Glu198Val) | |
1 | g.146018426T>C | CA342135438 | HJV | c.932A>G (p.Glu311Gly) c.254A>G (p.Glu85Gly) c.593A>G (p.Glu198Gly) | |
1 | g.146018426T>G | CA342135442 | HJV | c.932A>C (p.Glu311Ala) c.254A>C (p.Glu85Ala) c.593A>C (p.Glu198Ala) | |
1 | g.146018427C>A | CA342135443 | HJV | c.931G>T (p.Glu311Ter) c.253G>T (p.Glu85Ter) c.592G>T (p.Glu198Ter) | gnomAD v4 |
1 | g.146018427C>G | CA342135444 | HJV | c.931G>C (p.Glu311Gln) c.253G>C (p.Glu85Gln) c.592G>C (p.Glu198Gln) | |
1 | g.146018427C>T | CA342135445 | HJV | c.931G>A (p.Glu311Lys) c.253G>A (p.Glu85Lys) c.592G>A (p.Glu198Lys) | |
1 | g.146018428A>C | CA420603434 | HJV | c.930T>G (p.Ala310=) c.252T>G (p.Ala84=) c.591T>G (p.Ala197=) | |
1 | g.146018428A>G | CA420603435 | HJV | c.930T>C (p.Ala310=) c.252T>C (p.Ala84=) c.591T>C (p.Ala197=) | |
1 | g.146018428A>T | CA420603433 | HJV | c.930T>A (p.Ala310=) c.252T>A (p.Ala84=) c.591T>A (p.Ala197=) | |
1 | g.146018429G>A | CA342135447 | HJV | c.929C>T (p.Ala310Val) c.251C>T (p.Ala84Val) c.590C>T (p.Ala197Val) | |
1 | g.146018429G>C | CA1053922 | HJV | c.929C>G (p.Ala310Gly) c.251C>G (p.Ala84Gly) c.590C>G (p.Ala197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018429G= | CA1140148041 | HJV | c.929C= (p.Ala310=) c.251C= (p.Ala84=) c.590C= (p.Ala197=) | |
1 | g.146018429G>T | CA342135448 | HJV | c.929C>A (p.Ala310Asp) c.251C>A (p.Ala84Asp) c.590C>A (p.Ala197Asp) | gnomAD v4 |
1 | g.146018430C>A | CA342135449 | HJV | c.928G>T (p.Ala310Ser) c.250G>T (p.Ala84Ser) c.589G>T (p.Ala197Ser) | |
1 | g.146018430C>G | CA342135450 | HJV | c.928G>C (p.Ala310Pro) c.250G>C (p.Ala84Pro) c.589G>C (p.Ala197Pro) |