Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.146018405A= | CA1198820955 | HJV | c.953T= (p.Val318=) c.275T= (p.Val92=) c.614T= (p.Val205=) | |
1 | g.146018405A>C | CA342135167 | HJV | c.953T>G (p.Val318Gly) c.275T>G (p.Val92Gly) c.614T>G (p.Val205Gly) | |
1 | g.146018405A>G | CA342135173 | HJV | c.953T>C (p.Val318Ala) c.275T>C (p.Val92Ala) c.614T>C (p.Val205Ala) | dbSNP gnomAD v4 |
1 | g.146018405A>T | CA342135180 | HJV | c.953T>A (p.Val318Asp) c.275T>A (p.Val92Asp) c.614T>A (p.Val205Asp) | |
1 | g.146018406C>A | CA342135184 | HJV | c.952G>T (p.Val318Phe) c.274G>T (p.Val92Phe) c.613G>T (p.Val205Phe) | |
1 | g.146018406C>G | CA342135188 | HJV | c.952G>C (p.Val318Leu) c.274G>C (p.Val92Leu) c.613G>C (p.Val205Leu) | |
1 | g.146018406C>T | CA342135191 | HJV | c.952G>A (p.Val318Ile) c.274G>A (p.Val92Ile) c.613G>A (p.Val205Ile) | gnomAD v4 |
1 | g.146018407A>C | CA342135197 | HJV | c.951T>G (p.Cys317Trp) c.273T>G (p.Cys91Trp) c.612T>G (p.Cys204Trp) | |
1 | g.146018407A>G | CA420603395 | HJV | c.951T>C (p.Cys317=) c.273T>C (p.Cys91=) c.612T>C (p.Cys204=) | |
1 | g.146018407A>T | CA342135215 | HJV | c.951T>A (p.Cys317Ter) c.273T>A (p.Cys91Ter) c.612T>A (p.Cys204Ter) | |
1 | g.146018408C>A | CA342135227 | HJV | c.950G>T (p.Cys317Phe) c.272G>T (p.Cys91Phe) c.611G>T (p.Cys204Phe) | |
1 | g.146018408C= | CA1198820956 | HJV | c.950G= (p.Cys317=) c.272G= (p.Cys91=) c.611G= (p.Cys204=) | |
1 | g.146018408C>G | CA342135226 | HJV | c.950G>C (p.Cys317Ser) c.272G>C (p.Cys91Ser) c.611G>C (p.Cys204Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018408C>T | CA342135224 | HJV | c.950G>A (p.Cys317Tyr) c.272G>A (p.Cys91Tyr) c.611G>A (p.Cys204Tyr) | ClinVar dbSNP |
1 | g.146018409A>C | CA342135229 | HJV | c.949T>G (p.Cys317Gly) c.271T>G (p.Cys91Gly) c.610T>G (p.Cys204Gly) | |
1 | g.146018409A>G | CA342135245 | HJV | c.949T>C (p.Cys317Arg) c.271T>C (p.Cys91Arg) c.610T>C (p.Cys204Arg) | |
1 | g.146018409A>T | CA342135244 | HJV | c.949T>A (p.Cys317Ser) c.271T>A (p.Cys91Ser) c.610T>A (p.Cys204Ser) | |
1 | g.146018410G>A | CA420603400 | HJV | c.948C>T (p.Leu316=) c.270C>T (p.Leu90=) c.609C>T (p.Leu203=) | |
1 | g.146018410G>C | CA420603401 | HJV | c.948C>G (p.Leu316=) c.270C>G (p.Leu90=) c.609C>G (p.Leu203=) | |
1 | g.146018410G>T | CA420603399 | HJV | c.948C>A (p.Leu316=) c.270C>A (p.Leu90=) c.609C>A (p.Leu203=) | |
1 | g.146018411A>C | CA342135246 | HJV | c.947T>G (p.Leu316Arg) c.269T>G (p.Leu90Arg) c.608T>G (p.Leu203Arg) | |
1 | g.146018411A>G | CA342135248 | HJV | c.947T>C (p.Leu316Pro) c.269T>C (p.Leu90Pro) c.608T>C (p.Leu203Pro) | |
1 | g.146018411A>T | CA342135247 | HJV | c.947T>A (p.Leu316His) c.269T>A (p.Leu90His) c.608T>A (p.Leu203His) | |
1 | g.146018412G>A | CA342135252 | HJV | c.946C>T (p.Leu316Phe) c.268C>T (p.Leu90Phe) c.607C>T (p.Leu203Phe) | |
1 | g.146018412G>C | CA342135255 | HJV | c.946C>G (p.Leu316Val) c.268C>G (p.Leu90Val) c.607C>G (p.Leu203Val) | |
1 | g.146018412G>T | CA342135257 | HJV | c.946C>A (p.Leu316Ile) c.268C>A (p.Leu90Ile) c.607C>A (p.Leu203Ile) | |
1 | g.146018413C>A | CA342135258 | HJV | c.945G>T (p.Gln315His) c.267G>T (p.Gln89His) c.606G>T (p.Gln202His) | |
1 | g.146018413C= | CA1198820957 | HJV | c.945G= (p.Gln315=) c.267G= (p.Gln89=) c.606G= (p.Gln202=) | |
1 | g.146018413C>G | CA342135259 | HJV | c.945G>C (p.Gln315His) c.267G>C (p.Gln89His) c.606G>C (p.Gln202His) | |
1 | g.146018413C>T | CA420603404 | HJV | c.945G>A (p.Gln315=) c.267G>A (p.Gln89=) c.606G>A (p.Gln202=) | dbSNP |
1 | g.146018414T>A | CA342135260 | HJV | c.944A>T (p.Gln315Leu) c.266A>T (p.Gln89Leu) c.605A>T (p.Gln202Leu) | |
1 | g.146018414T>C | CA342135261 | HJV | c.944A>G (p.Gln315Arg) c.266A>G (p.Gln89Arg) c.605A>G (p.Gln202Arg) | |
1 | g.146018414T>G | CA342135263 | HJV | c.944A>C (p.Gln315Pro) c.266A>C (p.Gln89Pro) c.605A>C (p.Gln202Pro) | |
1 | g.146018415G>A | CA342135296 | HJV | c.943C>T (p.Gln315Ter) c.265C>T (p.Gln89Ter) c.604C>T (p.Gln202Ter) | |
1 | g.146018415G>C | CA342135300 | HJV | c.943C>G (p.Gln315Glu) c.265C>G (p.Gln89Glu) c.604C>G (p.Gln202Glu) | |
1 | g.146018415G>T | CA342135315 | HJV | c.943C>A (p.Gln315Lys) c.265C>A (p.Gln89Lys) c.604C>A (p.Gln202Lys) | |
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) | ClinVar 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) | |
1 | g.146018430C>T | CA342135453 | HJV | c.928G>A (p.Ala310Thr) c.250G>A (p.Ala84Thr) c.589G>A (p.Ala197Thr) | gnomAD v4 |
1 | g.146018431T>A | CA420603441 | HJV | c.927A>T (p.Ser309=) c.249A>T (p.Ser83=) c.588A>T (p.Ser196=) | |
1 | g.146018431T>C | CA420603440 | HJV | c.927A>G (p.Ser309=) c.249A>G (p.Ser83=) c.588A>G (p.Ser196=) | dbSNP |
1 | g.146018431T>G | CA420603439 | HJV | c.927A>C (p.Ser309=) c.249A>C (p.Ser83=) c.588A>C (p.Ser196=) | dbSNP |
1 | g.146018432G>A | CA342135471 | HJV | c.926C>T (p.Ser309Leu) c.248C>T (p.Ser83Leu) c.587C>T (p.Ser196Leu) | |
1 | g.146018432G>C | CA342135472 | HJV | c.926C>G (p.Ser309Ter) c.248C>G (p.Ser83Ter) c.587C>G (p.Ser196Ter) | gnomAD v4 |
1 | g.146018432G>T | CA342135479 | HJV | c.926C>A (p.Ser309Ter) c.248C>A (p.Ser83Ter) c.587C>A (p.Ser196Ter) | COSMIC |
1 | g.146018433A= | CA1198820963 | HJV | c.925T= (p.Ser309=) c.247T= (p.Ser83=) c.586T= (p.Ser196=) | |
1 | g.146018433A>C | CA342135485 | HJV | c.925T>G (p.Ser309Ala) c.247T>G (p.Ser83Ala) c.586T>G (p.Ser196Ala) | gnomAD v4 |
1 | g.146018433A>G | CA342135494 | HJV | c.925T>C (p.Ser309Pro) c.247T>C (p.Ser83Pro) c.586T>C (p.Ser196Pro) | |
1 | g.146018433A>T | CA342135499 | HJV | c.925T>A (p.Ser309Thr) c.247T>A (p.Ser83Thr) c.586T>A (p.Ser196Thr) | dbSNP |
1 | g.146018434G>A | CA420603444 | HJV | c.924C>T (p.Phe308=) c.246C>T (p.Phe82=) c.585C>T (p.Phe195=) | |
1 | g.146018434G>C | CA342135500 | HJV | c.924C>G (p.Phe308Leu) c.246C>G (p.Phe82Leu) c.585C>G (p.Phe195Leu) | |
1 | g.146018434G>T | CA342135501 | HJV | c.924C>A (p.Phe308Leu) c.246C>A (p.Phe82Leu) c.585C>A (p.Phe195Leu) | |
1 | g.146018435A>C | CA342135509 | HJV | c.923T>G (p.Phe308Cys) c.245T>G (p.Phe82Cys) c.584T>G (p.Phe195Cys) | |
1 | g.146018435A>G | CA342135513 | HJV | c.923T>C (p.Phe308Ser) c.245T>C (p.Phe82Ser) c.584T>C (p.Phe195Ser) | |
1 | g.146018435A>T | CA342135503 | HJV | c.923T>A (p.Phe308Tyr) c.245T>A (p.Phe82Tyr) c.584T>A (p.Phe195Tyr) | |
1 | g.146018436A>C | CA342135518 | HJV | c.922T>G (p.Phe308Val) c.244T>G (p.Phe82Val) c.583T>G (p.Phe195Val) | |
1 | g.146018436A>G | CA342135528 | HJV | c.922T>C (p.Phe308Leu) c.244T>C (p.Phe82Leu) c.583T>C (p.Phe195Leu) | |
1 | g.146018436A>T | CA342135532 | HJV | c.922T>A (p.Phe308Ile) c.244T>A (p.Phe82Ile) c.583T>A (p.Phe195Ile) | |
1 | g.146018436_146018442delinsAGGCCAT | CA1198820964 | HJV | c.916_922delinsATGGCCT (p.Met306=) c.238_244delinsATGGCCT (p.Met80=) c.577_583delinsATGGCCT (p.Met193=) | |
1 | g.146018437G>A | CA29823676 | HJV | c.921C>T (p.Ala307=) c.243C>T (p.Ala81=) c.582C>T (p.Ala194=) | dbSNP |
1 | g.146018437G>C | CA420603450 | HJV | c.921C>G (p.Ala307=) c.243C>G (p.Ala81=) c.582C>G (p.Ala194=) | |
1 | g.146018437G= | CA1198820965 | HJV | c.921C= (p.Ala307=) c.243C= (p.Ala81=) c.582C= (p.Ala194=) | |
1 | g.146018437G>T | CA420603452 | HJV | c.921C>A (p.Ala307=) c.243C>A (p.Ala81=) c.582C>A (p.Ala194=) | gnomAD v4 |
1 | g.146018442_146018447del | CA888579244 | HJV | c.916_921del (p.Met306_Ala307del) c.238_243del (p.Met80_Ala81del) c.577_582del (p.Met193_Ala194del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018438G>A | CA342135545 | HJV | c.920C>T (p.Ala307Val) c.242C>T (p.Ala81Val) c.581C>T (p.Ala194Val) | |
1 | g.146018438G>C | CA342135546 | HJV | c.920C>G (p.Ala307Gly) c.242C>G (p.Ala81Gly) c.581C>G (p.Ala194Gly) | |
1 | g.146018438G>T | CA342135551 | HJV | c.920C>A (p.Ala307Asp) c.242C>A (p.Ala81Asp) c.581C>A (p.Ala194Asp) | |
1 | g.146018439C>A | CA342135555 | HJV | c.919G>T (p.Ala307Ser) c.241G>T (p.Ala81Ser) c.580G>T (p.Ala194Ser) | |
1 | g.146018439C>G | CA342135557 | HJV | c.919G>C (p.Ala307Pro) c.241G>C (p.Ala81Pro) c.580G>C (p.Ala194Pro) | |
1 | g.146018439C>T | CA342135561 | HJV | c.919G>A (p.Ala307Thr) c.241G>A (p.Ala81Thr) c.580G>A (p.Ala194Thr) | gnomAD v4 |
1 | g.146018440del | CA2573131054 | HJV | c.919del (p.Ala307ProfsTer?) c.241del (p.Ala81ProfsTer?) c.580del (p.Ala194ProfsTer?) | ClinVar dbSNP |
1 | g.146018440C>A | CA29823692 | HJV | c.918G>T (p.Met306Ile) c.240G>T (p.Met80Ile) c.579G>T (p.Met193Ile) | |
1 | g.146018440C= | CA1198820966 | HJV | c.918G= (p.Met306=) c.240G= (p.Met80=) c.579G= (p.Met193=) | |
1 | g.146018440C>G | CA29823700 | HJV | c.918G>C (p.Met306Ile) c.240G>C (p.Met80Ile) c.579G>C (p.Met193Ile) | |
1 | g.146018440C>T | CA1053921 | HJV | c.918G>A (p.Met306Ile) c.240G>A (p.Met80Ile) c.579G>A (p.Met193Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018441A>C | CA342135582 | HJV | c.917T>G (p.Met306Arg) c.239T>G (p.Met80Arg) c.578T>G (p.Met193Arg) | |
1 | g.146018441A>G | CA342135580 | HJV | c.917T>C (p.Met306Thr) c.239T>C (p.Met80Thr) c.578T>C (p.Met193Thr) | gnomAD v4 |
1 | g.146018441A>T | CA342135578 | HJV | c.917T>A (p.Met306Lys) c.239T>A (p.Met80Lys) c.578T>A (p.Met193Lys) | |
1 | g.146018442T>A | CA342135584 | HJV | c.916A>T (p.Met306Leu) c.238A>T (p.Met80Leu) c.577A>T (p.Met193Leu) | |
1 | g.146018442T>C | CA342135587 | HJV | c.916A>G (p.Met306Val) c.238A>G (p.Met80Val) c.577A>G (p.Met193Val) | |
1 | g.146018442T>G | CA342135590 | HJV | c.916A>C (p.Met306Leu) c.238A>C (p.Met80Leu) c.577A>C (p.Met193Leu) | |
1 | g.146018442T= | CA1198820967 | HJV | c.916A= (p.Met306=) c.238A= (p.Met80=) c.577A= (p.Met193=) | |
1 | g.146018443G>A | CA1053920 | HJV | c.915C>T (p.Ala305=) c.237C>T (p.Ala79=) c.576C>T (p.Ala192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018443G>C | CA29823706 | HJV | c.915C>G (p.Ala305=) c.237C>G (p.Ala79=) c.576C>G (p.Ala192=) | |
1 | g.146018443G= | CA1143759530 | HJV | c.915C= (p.Ala305=) c.237C= (p.Ala79=) c.576C= (p.Ala192=) | |
1 | g.146018443G>T | CA29823722 | HJV | c.915C>A (p.Ala305=) c.237C>A (p.Ala79=) c.576C>A (p.Ala192=) | |
1 | g.146018443_146018448dup | CA526253969 | HJV | c.910_915dup (p.Ala305_Met306insValAla) c.232_237dup (p.Ala79_Met80insValAla) c.571_576dup (p.Ala192_Met193insValAla) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018444G>A | CA342135591 | HJV | c.914C>T (p.Ala305Val) c.236C>T (p.Ala79Val) c.575C>T (p.Ala192Val) | gnomAD v4 COSMIC |
1 | g.146018444G>C | CA342135603 | HJV | c.914C>G (p.Ala305Gly) c.236C>G (p.Ala79Gly) c.575C>G (p.Ala192Gly) | |
1 | g.146018444G>T | CA342135607 | HJV | c.914C>A (p.Ala305Asp) c.236C>A (p.Ala79Asp) c.575C>A (p.Ala192Asp) | |
1 | g.146018445C>A | CA342135611 | HJV | c.913G>T (p.Ala305Ser) c.235G>T (p.Ala79Ser) c.574G>T (p.Ala192Ser) | gnomAD v4 |
1 | g.146018445C= | CA1198820968 | HJV | c.913G= (p.Ala305=) c.235G= (p.Ala79=) c.574G= (p.Ala192=) | |
1 | g.146018445C>G | CA342135617 | HJV | c.913G>C (p.Ala305Pro) c.235G>C (p.Ala79Pro) c.574G>C (p.Ala192Pro) | |
1 | g.146018445C>T | CA342135627 | HJV | c.913G>A (p.Ala305Thr) c.235G>A (p.Ala79Thr) c.574G>A (p.Ala192Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018446C>A | CA420603467 | HJV | c.912G>T (p.Val304=) c.234G>T (p.Val78=) c.573G>T (p.Val191=) | gnomAD v4 |
1 | g.146018446C>G | CA420603465 | HJV | c.912G>C (p.Val304=) c.234G>C (p.Val78=) c.573G>C (p.Val191=) | |
1 | g.146018446C>T | CA420603464 | HJV | c.912G>A (p.Val304=) c.234G>A (p.Val78=) c.573G>A (p.Val191=) | |
1 | g.146018447A>C | CA342135636 | HJV | c.911T>G (p.Val304Gly) c.233T>G (p.Val78Gly) c.572T>G (p.Val191Gly) | |
1 | g.146018447A>G | CA342135654 | HJV | c.911T>C (p.Val304Ala) c.233T>C (p.Val78Ala) c.572T>C (p.Val191Ala) | |
1 | g.146018447A>T | CA342135655 | HJV | c.911T>A (p.Val304Glu) c.233T>A (p.Val78Glu) c.572T>A (p.Val191Glu) | |
1 | g.146018448C>A | CA342135657 | HJV | c.910G>T (p.Val304Leu) c.232G>T (p.Val78Leu) c.571G>T (p.Val191Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018448C= | CA1198820969 | HJV | c.910G= (p.Val304=) c.232G= (p.Val78=) c.571G= (p.Val191=) | |
1 | g.146018448C>G | CA342135662 | HJV | c.910G>C (p.Val304Leu) c.232G>C (p.Val78Leu) c.571G>C (p.Val191Leu) | |
1 | g.146018448C>T | CA342135656 | HJV | c.910G>A (p.Val304Met) c.232G>A (p.Val78Met) c.571G>A (p.Val191Met) | |
1 | g.146018449A>C | CA342135685 | HJV | c.909T>G (p.Asp303Glu) c.231T>G (p.Asp77Glu) c.570T>G (p.Asp190Glu) | |
1 | g.146018449A>G | CA420603470 | HJV | c.909T>C (p.Asp303=) c.231T>C (p.Asp77=) c.570T>C (p.Asp190=) | |
1 | g.146018449A>T | CA342135690 | HJV | c.909T>A (p.Asp303Glu) c.231T>A (p.Asp77Glu) c.570T>A (p.Asp190Glu) | |
1 | g.146018450T>A | CA342135701 | HJV | c.908A>T (p.Asp303Val) c.230A>T (p.Asp77Val) c.569A>T (p.Asp190Val) | |
1 | g.146018450T>C | CA342135720 | HJV | c.908A>G (p.Asp303Gly) c.230A>G (p.Asp77Gly) c.569A>G (p.Asp190Gly) | |
1 | g.146018450T>G | CA342135721 | HJV | c.908A>C (p.Asp303Ala) c.230A>C (p.Asp77Ala) c.569A>C (p.Asp190Ala) | |
1 | g.146018451C>A | CA342135729 | HJV | c.907G>T (p.Asp303Tyr) c.229G>T (p.Asp77Tyr) c.568G>T (p.Asp190Tyr) | gnomAD v4 |
1 | g.146018451C>G | CA342135723 | HJV | c.907G>C (p.Asp303His) c.229G>C (p.Asp77His) c.568G>C (p.Asp190His) | |
1 | g.146018451C>T | CA342135722 | HJV | c.907G>A (p.Asp303Asn) c.229G>A (p.Asp77Asn) c.568G>A (p.Asp190Asn) | |
1 | g.146018452C>A | CA1053919 | HJV | c.906G>T (p.Glu302Asp) c.228G>T (p.Glu76Asp) c.567G>T (p.Glu189Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018452C= | CA1141871862 | HJV | c.906G= (p.Glu302=) c.228G= (p.Glu76=) c.567G= (p.Glu189=) | |
1 | g.146018452C>G | CA29823743 | HJV | c.906G>C (p.Glu302Asp) c.228G>C (p.Glu76Asp) c.567G>C (p.Glu189Asp) | |
1 | g.146018452C>T | CA1053918 | HJV | c.906G>A (p.Glu302=) c.228G>A (p.Glu76=) c.567G>A (p.Glu189=) | ClinVar dbSNP ExAC |
1 | g.146018453T>A | CA342135740 | HJV | c.905A>T (p.Glu302Val) c.227A>T (p.Glu76Val) c.566A>T (p.Glu189Val) | |
1 | g.146018453T>C | CA342135745 | HJV | c.905A>G (p.Glu302Gly) c.227A>G (p.Glu76Gly) c.566A>G (p.Glu189Gly) | |
1 | g.146018453T>G | CA342135746 | HJV | c.905A>C (p.Glu302Ala) c.227A>C (p.Glu76Ala) c.566A>C (p.Glu189Ala) | |
1 | g.146018454C>A | CA342135747 | HJV | c.904G>T (p.Glu302Ter) c.226G>T (p.Glu76Ter) c.565G>T (p.Glu189Ter) | |
1 | g.146018454C= | CA1141933395 | HJV | c.904G= (p.Glu302=) c.226G= (p.Glu76=) c.565G= (p.Glu189=) | |
1 | g.146018454C>G | CA342135754 | HJV | c.904G>C (p.Glu302Gln) c.226G>C (p.Glu76Gln) c.565G>C (p.Glu189Gln) | |
1 | g.146018454C>T | CA1053917 | HJV | c.904G>A (p.Glu302Lys) c.226G>A (p.Glu76Lys) c.565G>A (p.Glu189Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018455T>A | CA420603479 | HJV | c.903A>T (p.Ala301=) c.225A>T (p.Ala75=) c.564A>T (p.Ala188=) | |
1 | g.146018455T>C | CA420603478 | HJV | c.903A>G (p.Ala301=) c.225A>G (p.Ala75=) c.564A>G (p.Ala188=) | |
1 | g.146018455T>G | CA420603477 | HJV | c.903A>C (p.Ala301=) c.225A>C (p.Ala75=) c.564A>C (p.Ala188=) | |
1 | g.146018456G>A | CA342135756 | HJV | c.902C>T (p.Ala301Val) c.224C>T (p.Ala75Val) c.563C>T (p.Ala188Val) | |
1 | g.146018456G>C | CA342135757 | HJV | c.902C>G (p.Ala301Gly) c.224C>G (p.Ala75Gly) c.563C>G (p.Ala188Gly) | |
1 | g.146018456G>T | CA342135758 | HJV | c.902C>A (p.Ala301Glu) c.224C>A (p.Ala75Glu) c.563C>A (p.Ala188Glu) | |
1 | g.146018457C>A | CA342135763 | HJV | c.901G>T (p.Ala301Ser) c.223G>T (p.Ala75Ser) c.562G>T (p.Ala188Ser) | gnomAD v4 |
1 | g.146018457C>G | CA342135769 | HJV | c.901G>C (p.Ala301Pro) c.223G>C (p.Ala75Pro) c.562G>C (p.Ala188Pro) | |
1 | g.146018457C>T | CA342135771 | HJV | c.901G>A (p.Ala301Thr) c.223G>A (p.Ala75Thr) c.562G>A (p.Ala188Thr) | |
1 | g.146018458T>A | CA29823757 | HJV | c.900A>T (p.Val300=) c.222A>T (p.Val74=) c.561A>T (p.Val187=) | |
1 | g.146018458T>C | CA1053916 | HJV | c.900A>G (p.Val300=) c.222A>G (p.Val74=) c.561A>G (p.Val187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018458T>G | CA29823761 | HJV | c.900A>C (p.Val300=) c.222A>C (p.Val74=) c.561A>C (p.Val187=) | |
1 | g.146018458T= | CA1198820970 | HJV | c.900A= (p.Val300=) c.222A= (p.Val74=) c.561A= (p.Val187=) | |
1 | g.146018459A>C | CA342135791 | HJV | c.899T>G (p.Val300Gly) c.221T>G (p.Val74Gly) c.560T>G (p.Val187Gly) | |
1 | g.146018459A>G | CA342135793 | HJV | c.899T>C (p.Val300Ala) c.221T>C (p.Val74Ala) c.560T>C (p.Val187Ala) | |
1 | g.146018459A>T | CA342135795 | HJV | c.899T>A (p.Val300Glu) c.221T>A (p.Val74Glu) c.560T>A (p.Val187Glu) | |
1 | g.146018459_146018460delinsAC | CA1198820971 | HJV | c.898_899delinsGT (p.Val300=) c.220_221delinsGT (p.Val74=) c.559_560delinsGT (p.Val187=) | |
1 | g.146018460C>A | CA342135808 | HJV | c.898G>T (p.Val300Leu) c.220G>T (p.Val74Leu) c.559G>T (p.Val187Leu) | |
1 | g.146018460C>G | CA342135803 | HJV | c.898G>C (p.Val300Leu) c.220G>C (p.Val74Leu) c.559G>C (p.Val187Leu) | |
1 | g.146018460C>T | CA342135798 | HJV | c.898G>A (p.Val300Ile) c.220G>A (p.Val74Ile) c.559G>A (p.Val187Ile) | gnomAD v4 |
1 | g.146018461del | CA1198820972 | HJV | c.898del (p.Val300Ter) c.220del (p.Val74Ter) c.559del (p.Val187Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.146018461C>A | CA342135813 | HJV | c.897G>T (p.Lys299Asn) c.219G>T (p.Lys73Asn) c.558G>T (p.Lys186Asn) | |
1 | g.146018461C>G | CA342135823 | HJV | c.897G>C (p.Lys299Asn) c.219G>C (p.Lys73Asn) c.558G>C (p.Lys186Asn) | gnomAD v4 |
1 | g.146018461C>T | CA420603481 | HJV | c.897G>A (p.Lys299=) c.219G>A (p.Lys73=) c.558G>A (p.Lys186=) | gnomAD v4 |
1 | g.146018462T>A | CA342135829 | HJV | c.896A>T (p.Lys299Met) c.218A>T (p.Lys73Met) c.557A>T (p.Lys186Met) | |
1 | g.146018462T>C | CA342135844 | HJV | c.896A>G (p.Lys299Arg) c.218A>G (p.Lys73Arg) c.557A>G (p.Lys186Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018462T>G | CA342135840 | HJV | c.896A>C (p.Lys299Thr) c.218A>C (p.Lys73Thr) c.557A>C (p.Lys186Thr) | |
1 | g.146018462T= | CA1198820973 | HJV | c.896A= (p.Lys299=) c.218A= (p.Lys73=) c.557A= (p.Lys186=) | |
1 | g.146018463T>A | CA342135846 | HJV | c.895A>T (p.Lys299Ter) c.217A>T (p.Lys73Ter) c.556A>T (p.Lys186Ter) | |
1 | g.146018463T>C | CA342135850 | HJV | c.895A>G (p.Lys299Glu) c.217A>G (p.Lys73Glu) c.556A>G (p.Lys186Glu) | |
1 | g.146018463T>G | CA342135848 | HJV | c.895A>C (p.Lys299Gln) c.217A>C (p.Lys73Gln) c.556A>C (p.Lys186Gln) | |
1 | g.146018464G>A | CA420603483 | HJV | c.894C>T (p.Ile298=) c.216C>T (p.Ile72=) c.555C>T (p.Ile185=) | |
1 | g.146018464G>C | CA342135864 | HJV | c.894C>G (p.Ile298Met) c.216C>G (p.Ile72Met) c.555C>G (p.Ile185Met) | |
1 | g.146018464G>T | CA420603482 | HJV | c.894C>A (p.Ile298=) c.216C>A (p.Ile72=) c.555C>A (p.Ile185=) | |
1 | g.146018465A= | CA1198820974 | HJV | c.893T= (p.Ile298=) c.215T= (p.Ile72=) c.554T= (p.Ile185=) | |
1 | g.146018465A>C | CA342135897 | HJV | c.893T>G (p.Ile298Ser) c.215T>G (p.Ile72Ser) c.554T>G (p.Ile185Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018465A>G | CA342135871 | HJV | c.893T>C (p.Ile298Thr) c.215T>C (p.Ile72Thr) c.554T>C (p.Ile185Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018465A>T | CA342135905 | HJV | c.893T>A (p.Ile298Asn) c.215T>A (p.Ile72Asn) c.554T>A (p.Ile185Asn) | |
1 | g.146018466T>A | CA29823767 | HJV | c.892A>T (p.Ile298Phe) c.214A>T (p.Ile72Phe) c.553A>T (p.Ile185Phe) | |
1 | g.146018466T>C | CA29823768 | HJV | c.892A>G (p.Ile298Val) c.214A>G (p.Ile72Val) c.553A>G (p.Ile185Val) | |
1 | g.146018466T>G | CA1053915 | HJV | c.892A>C (p.Ile298Leu) c.214A>C (p.Ile72Leu) c.553A>C (p.Ile185Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018466T= | CA1198820975 | HJV | c.892A= (p.Ile298=) c.214A= (p.Ile72=) c.553A= (p.Ile185=) | |
1 | g.146018467G>A | CA420603489 | HJV | c.891C>T (p.Ser297=) c.213C>T (p.Ser71=) c.552C>T (p.Ser184=) | ClinVar dbSNP gnomAD v4 |
1 | g.146018467G>C | CA420603488 | HJV | c.891C>G (p.Ser297=) c.213C>G (p.Ser71=) c.552C>G (p.Ser184=) | |
1 | g.146018467G>T | CA420603490 | HJV | c.891C>A (p.Ser297=) c.213C>A (p.Ser71=) c.552C>A (p.Ser184=) | |
1 | g.146018472_146018477del | CA2508527509 | HJV | c.886_891del (p.Phe296_Ser297del) c.208_213del (p.Phe70_Ser71del) c.547_552del (p.Phe183_Ser184del) | |
1 | g.146018468G>A | CA342135933 | HJV | c.890C>T (p.Ser297Phe) c.212C>T (p.Ser71Phe) c.551C>T (p.Ser184Phe) | gnomAD v4 |
1 | g.146018468G>C | CA342135934 | HJV | c.890C>G (p.Ser297Cys) c.212C>G (p.Ser71Cys) c.551C>G (p.Ser184Cys) | |
1 | g.146018468G>T | CA342135936 | HJV | c.890C>A (p.Ser297Tyr) c.212C>A (p.Ser71Tyr) c.551C>A (p.Ser184Tyr) | |
1 | g.146018469A>C | CA342135939 | HJV | c.889T>G (p.Ser297Ala) c.211T>G (p.Ser71Ala) c.550T>G (p.Ser184Ala) | |
1 | g.146018469A>G | CA342135946 | HJV | c.889T>C (p.Ser297Pro) c.211T>C (p.Ser71Pro) c.550T>C (p.Ser184Pro) | gnomAD v4 |
1 | g.146018469A>T | CA342135949 | HJV | c.889T>A (p.Ser297Thr) c.211T>A (p.Ser71Thr) c.550T>A (p.Ser184Thr) | |
1 | g.146018470G>A | CA420603491 | HJV | c.888C>T (p.Phe296=) c.210C>T (p.Phe70=) c.549C>T (p.Phe183=) | |
1 | g.146018470G>C | CA342135957 | HJV | c.888C>G (p.Phe296Leu) c.210C>G (p.Phe70Leu) c.549C>G (p.Phe183Leu) | |
1 | g.146018470G>T | CA342135963 | HJV | c.888C>A (p.Phe296Leu) c.210C>A (p.Phe70Leu) c.549C>A (p.Phe183Leu) | |
1 | g.146018471A= | CA1198820976 | HJV | c.887T= (p.Phe296=) c.209T= (p.Phe70=) c.548T= (p.Phe183=) | |
1 | g.146018471A>C | CA342135968 | HJV | c.887T>G (p.Phe296Cys) c.209T>G (p.Phe70Cys) c.548T>G (p.Phe183Cys) | |
1 | g.146018471A>G | CA342135971 | HJV | c.887T>C (p.Phe296Ser) c.209T>C (p.Phe70Ser) c.548T>C (p.Phe183Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018471A>T | CA342135974 | HJV | c.887T>A (p.Phe296Tyr) c.209T>A (p.Phe70Tyr) c.548T>A (p.Phe183Tyr) | |
1 | g.146018472A= | CA1198820977 | HJV | c.886T= (p.Phe296=) c.208T= (p.Phe70=) c.547T= (p.Phe183=) | |
1 | g.146018472A>C | CA342135995 | HJV | c.886T>G (p.Phe296Val) c.208T>G (p.Phe70Val) c.547T>G (p.Phe183Val) | dbSNP |
1 | g.146018472A>G | CA342135987 | HJV | c.886T>C (p.Phe296Leu) c.208T>C (p.Phe70Leu) c.547T>C (p.Phe183Leu) | COSMIC |
1 | g.146018472A>T | CA342135990 | HJV | c.886T>A (p.Phe296Ile) c.208T>A (p.Phe70Ile) c.547T>A (p.Phe183Ile) | |
1 | g.146018473G>A | CA1053914 | HJV | c.885C>T (p.Ser295=) c.207C>T (p.Ser69=) c.546C>T (p.Ser182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018473G>C | CA29823769 | HJV | c.885C>G (p.Ser295=) c.207C>G (p.Ser69=) c.546C>G (p.Ser182=) | |
1 | g.146018473G= | CA1143435950 | HJV | c.885C= (p.Ser295=) c.207C= (p.Ser69=) c.546C= (p.Ser182=) | |
1 | g.146018473G>T | CA29823770 | HJV | c.885C>A (p.Ser295=) c.207C>A (p.Ser69=) c.546C>A (p.Ser182=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018474del | CA2573131055 | HJV | c.885del (p.Phe296SerfsTer5) c.207del (p.Phe70SerfsTer5) c.546del (p.Phe183SerfsTer5) | ClinVar dbSNP |
1 | g.146018474G>A | CA342136015 | HJV | c.884C>T (p.Ser295Phe) c.206C>T (p.Ser69Phe) c.545C>T (p.Ser182Phe) | dbSNP |
1 | g.146018474G>C | CA342136018 | HJV | c.884C>G (p.Ser295Cys) c.206C>G (p.Ser69Cys) c.545C>G (p.Ser182Cys) | |
1 | g.146018474G= | CA1198820978 | HJV | c.884C= (p.Ser295=) c.206C= (p.Ser69=) c.545C= (p.Ser182=) | |
1 | g.146018474G>T | CA342136027 | HJV | c.884C>A (p.Ser295Tyr) c.206C>A (p.Ser69Tyr) c.545C>A (p.Ser182Tyr) | |
1 | g.146018475A>C | CA342136030 | HJV | c.883T>G (p.Ser295Ala) c.205T>G (p.Ser69Ala) c.544T>G (p.Ser182Ala) | |
1 | g.146018475A>G | CA342136034 | HJV | c.883T>C (p.Ser295Pro) c.205T>C (p.Ser69Pro) c.544T>C (p.Ser182Pro) | |
1 | g.146018475A>T | CA342136043 | HJV | c.883T>A (p.Ser295Thr) c.205T>A (p.Ser69Thr) c.544T>A (p.Ser182Thr) | |
1 | g.146018476G>A | CA1053913 | HJV | c.882C>T (p.Leu294=) c.204C>T (p.Leu68=) c.543C>T (p.Leu181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018476G>C | CA29823776 | HJV | c.882C>G (p.Leu294=) c.204C>G (p.Leu68=) c.543C>G (p.Leu181=) | |
1 | g.146018476G= | CA1142291109 | HJV | c.882C= (p.Leu294=) c.204C= (p.Leu68=) c.543C= (p.Leu181=) | |
1 | g.146018476G>T | CA29823779 | HJV | c.882C>A (p.Leu294=) c.204C>A (p.Leu68=) c.543C>A (p.Leu181=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018477A= | CA1198820979 | HJV | c.881T= (p.Leu294=) c.203T= (p.Leu68=) c.542T= (p.Leu181=) | |
1 | g.146018477A>C | CA342136070 | HJV | c.881T>G (p.Leu294Arg) c.203T>G (p.Leu68Arg) c.542T>G (p.Leu181Arg) | |
1 | g.146018477A>G | CA342136068 | HJV | c.881T>C (p.Leu294Pro) c.203T>C (p.Leu68Pro) c.542T>C (p.Leu181Pro) | |
1 | g.146018477A>T | CA1053912 | HJV | c.881T>A (p.Leu294His) c.203T>A (p.Leu68His) c.542T>A (p.Leu181His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018478G>A | CA342136072 | HJV | c.880C>T (p.Leu294Phe) c.202C>T (p.Leu68Phe) c.541C>T (p.Leu181Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018478G>C | CA342136077 | HJV | c.880C>G (p.Leu294Val) c.202C>G (p.Leu68Val) c.541C>G (p.Leu181Val) | |
1 | g.146018478G= | CA1140680124 | HJV | c.880C= (p.Leu294=) c.202C= (p.Leu68=) c.541C= (p.Leu181=) | |
1 | g.146018478G>T | CA342136078 | HJV | c.880C>A (p.Leu294Ile) c.202C>A (p.Leu68Ile) c.541C>A (p.Leu181Ile) | |
1 | g.146018479C>A | CA342136081 | HJV | c.879G>T (p.Gln293His) c.201G>T (p.Gln67His) c.540G>T (p.Gln180His) | |
1 | g.146018479C= | CA1198820980 | HJV | c.879G= (p.Gln293=) c.201G= (p.Gln67=) c.540G= (p.Gln180=) | |
1 | g.146018479C>G | CA342136088 | HJV | c.879G>C (p.Gln293His) c.201G>C (p.Gln67His) c.540G>C (p.Gln180His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018479C>T | CA420603500 | HJV | c.879G>A (p.Gln293=) c.201G>A (p.Gln67=) c.540G>A (p.Gln180=) | |
1 | g.146018480T>A | CA342136092 | HJV | c.878A>T (p.Gln293Leu) c.200A>T (p.Gln67Leu) c.539A>T (p.Gln180Leu) | gnomAD v4 |
1 | g.146018480T>C | CA342136106 | HJV | c.878A>G (p.Gln293Arg) c.200A>G (p.Gln67Arg) c.539A>G (p.Gln180Arg) | |
1 | g.146018480T>G | CA342136110 | HJV | c.878A>C (p.Gln293Pro) c.200A>C (p.Gln67Pro) c.539A>C (p.Gln180Pro) | |
1 | g.146018481G>A | CA342136123 | HJV | c.877C>T (p.Gln293Ter) c.199C>T (p.Gln67Ter) c.538C>T (p.Gln180Ter) | |
1 | g.146018481G>C | CA342136126 | HJV | c.877C>G (p.Gln293Glu) c.199C>G (p.Gln67Glu) c.538C>G (p.Gln180Glu) | |
1 | g.146018481G= | CA1198820981 | HJV | c.877C= (p.Gln293=) c.199C= (p.Gln67=) c.538C= (p.Gln180=) | |
1 | g.146018481G>T | CA342136128 | HJV | c.877C>A (p.Gln293Lys) c.199C>A (p.Gln67Lys) c.538C>A (p.Gln180Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.146018482C>A | CA420603507 | HJV | c.876G>T (p.Gly292=) c.198G>T (p.Gly66=) c.537G>T (p.Gly179=) | |
1 | g.146018482C= | CA1198820982 | HJV | c.876G= (p.Gly292=) c.198G= (p.Gly66=) c.537G= (p.Gly179=) | |
1 | g.146018482C>G | CA420603506 | HJV | c.876G>C (p.Gly292=) c.198G>C (p.Gly66=) c.537G>C (p.Gly179=) | |
1 | g.146018482C>T | CA420603503 | HJV | c.876G>A (p.Gly292=) c.198G>A (p.Gly66=) c.537G>A (p.Gly179=) | dbSNP gnomAD v4 |
1 | g.146018483C>A | CA342136144 | HJV | c.875G>T (p.Gly292Val) c.197G>T (p.Gly66Val) c.536G>T (p.Gly179Val) | |
1 | g.146018483C>G | CA342136141 | HJV | c.875G>C (p.Gly292Ala) c.197G>C (p.Gly66Ala) c.536G>C (p.Gly179Ala) | |
1 | g.146018483C>T | CA342136137 | HJV | c.875G>A (p.Gly292Glu) c.197G>A (p.Gly66Glu) c.536G>A (p.Gly179Glu) | |
1 | g.146018484C>A | CA29823792 | HJV | c.874G>T (p.Gly292Trp) c.196G>T (p.Gly66Trp) c.535G>T (p.Gly179Trp) | |
1 | g.146018484C= | CA1198820983 | HJV | c.874G= (p.Gly292=) c.196G= (p.Gly66=) c.535G= (p.Gly179=) | |
1 | g.146018484C>G | CA29823794 | HJV | c.874G>C (p.Gly292Arg) c.196G>C (p.Gly66Arg) c.535G>C (p.Gly179Arg) | |
1 | g.146018484C>T | CA1053911 | HJV | c.874G>A (p.Gly292Arg) c.196G>A (p.Gly66Arg) c.535G>A (p.Gly179Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018485A= | CA1198820984 | HJV | c.873T= (p.Ala291=) c.195T= (p.Ala65=) c.534T= (p.Ala178=) | |
1 | g.146018485A>C | CA420603510 | HJV | c.873T>G (p.Ala291=) c.195T>G (p.Ala65=) c.534T>G (p.Ala178=) | dbSNP |
1 | g.146018485A>G | CA420603509 | HJV | c.873T>C (p.Ala291=) c.195T>C (p.Ala65=) c.534T>C (p.Ala178=) | ClinVar dbSNP gnomAD v4 |
1 | g.146018485A>T | CA420603511 | HJV | c.873T>A (p.Ala291=) c.195T>A (p.Ala65=) c.534T>A (p.Ala178=) | |
1 | g.146018486G>A | CA342136150 | HJV | c.872C>T (p.Ala291Val) c.194C>T (p.Ala65Val) c.533C>T (p.Ala178Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018486G>C | CA1053910 | HJV | c.872C>G (p.Ala291Gly) c.194C>G (p.Ala65Gly) c.533C>G (p.Ala178Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018486G= | CA1144127259 | HJV | c.872C= (p.Ala291=) c.194C= (p.Ala65=) c.533C= (p.Ala178=) | |
1 | g.146018486G>T | CA342136153 | HJV | c.872C>A (p.Ala291Asp) c.194C>A (p.Ala65Asp) c.533C>A (p.Ala178Asp) | |
1 | g.146018487C>A | CA1053909 | HJV | c.871G>T (p.Ala291Ser) c.193G>T (p.Ala65Ser) c.532G>T (p.Ala178Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018487C= | CA1198820985 | HJV | c.871G= (p.Ala291=) c.193G= (p.Ala65=) c.532G= (p.Ala178=) | |
1 | g.146018487C>G | CA342136156 | HJV | c.871G>C (p.Ala291Pro) c.193G>C (p.Ala65Pro) c.532G>C (p.Ala178Pro) | |
1 | g.146018487C>T | CA342136160 | HJV | c.871G>A (p.Ala291Thr) c.193G>A (p.Ala65Thr) c.532G>A (p.Ala178Thr) | |
1 | g.146018488T>A | CA420603514 | HJV | c.870A>T (p.Thr290=) c.192A>T (p.Thr64=) c.531A>T (p.Thr177=) | |
1 | g.146018488T>C | CA420603515 | HJV | c.870A>G (p.Thr290=) c.192A>G (p.Thr64=) c.531A>G (p.Thr177=) | |
1 | g.146018488T>G | CA420603513 | HJV | c.870A>C (p.Thr290=) c.192A>C (p.Thr64=) c.531A>C (p.Thr177=) | gnomAD v4 |
1 | g.146018489G>A | CA342136162 | HJV | c.869C>T (p.Thr290Ile) c.191C>T (p.Thr64Ile) c.530C>T (p.Thr177Ile) | |
1 | g.146018489G>C | CA342136164 | HJV | c.869C>G (p.Thr290Arg) c.191C>G (p.Thr64Arg) c.530C>G (p.Thr177Arg) | |
1 | g.146018489G>T | CA342136167 | HJV | c.869C>A (p.Thr290Lys) c.191C>A (p.Thr64Lys) c.530C>A (p.Thr177Lys) | |
1 | g.146018490T>A | CA29823801 | HJV | c.868A>T (p.Thr290Ser) c.190A>T (p.Thr64Ser) c.529A>T (p.Thr177Ser) | gnomAD v4 |
1 | g.146018490T>C | CA342136180 | HJV | c.868A>G (p.Thr290Ala) c.190A>G (p.Thr64Ala) c.529A>G (p.Thr177Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018490T>G | CA29823800 | HJV | c.868A>C (p.Thr290Pro) c.190A>C (p.Thr64Pro) c.529A>C (p.Thr177Pro) | |
1 | g.146018490T= | CA1148154927 | HJV | c.868A= (p.Thr290=) c.190A= (p.Thr64=) c.529A= (p.Thr177=) | |
1 | g.146018491C>A | CA342136223 | HJV | c.867G>T (p.Gln289His) c.189G>T (p.Gln63His) c.528G>T (p.Gln176His) | |
1 | g.146018491C= | CA1198820986 | HJV | c.867G= (p.Gln289=) c.189G= (p.Gln63=) c.528G= (p.Gln176=) | |
1 | g.146018491C>G | CA342136228 | HJV | c.867G>C (p.Gln289His) c.189G>C (p.Gln63His) c.528G>C (p.Gln176His) | |
1 | g.146018491C>T | CA420603520 | HJV | c.867G>A (p.Gln289=) c.189G>A (p.Gln63=) c.528G>A (p.Gln176=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018492T>A | CA342136230 | HJV | c.866A>T (p.Gln289Leu) c.188A>T (p.Gln63Leu) c.527A>T (p.Gln176Leu) | |
1 | g.146018492T>C | CA342136235 | HJV | c.866A>G (p.Gln289Arg) c.188A>G (p.Gln63Arg) c.527A>G (p.Gln176Arg) | |
1 | g.146018492T>G | CA342136238 | HJV | c.866A>C (p.Gln289Pro) c.188A>C (p.Gln63Pro) c.527A>C (p.Gln176Pro) | |
1 | g.146018493G>A | CA342136241 | HJV | c.865C>T (p.Gln289Ter) c.187C>T (p.Gln63Ter) c.526C>T (p.Gln176Ter) | |
1 | g.146018493G>C | CA342136244 | HJV | c.865C>G (p.Gln289Glu) c.187C>G (p.Gln63Glu) c.526C>G (p.Gln176Glu) | |
1 | g.146018493G>T | CA342136248 | HJV | c.865C>A (p.Gln289Lys) c.187C>A (p.Gln63Lys) c.526C>A (p.Gln176Lys) | |
1 | g.146018494C>A | CA420603525 | HJV | c.864G>T (p.Arg288=) c.186G>T (p.Arg62=) c.525G>T (p.Arg175=) | |
1 | g.146018494C= | CA1198820987 | HJV | c.864G= (p.Arg288=) c.186G= (p.Arg62=) c.525G= (p.Arg175=) | |
1 | g.146018494C>G | CA420603523 | HJV | c.864G>C (p.Arg288=) c.186G>C (p.Arg62=) c.525G>C (p.Arg175=) | |
1 | g.146018494C>T | CA420603522 | HJV | c.864G>A (p.Arg288=) c.186G>A (p.Arg62=) c.525G>A (p.Arg175=) | dbSNP gnomAD v4 |
1 | g.146018495C>A | CA29823803 | HJV | c.863G>T (p.Arg288Leu) c.185G>T (p.Arg62Leu) c.524G>T (p.Arg175Leu) | |
1 | g.146018495C= | CA1143935447 | HJV | c.863G= (p.Arg288=) c.185G= (p.Arg62=) c.524G= (p.Arg175=) | |
1 | g.146018495C>G | CA29823804 | HJV | c.863G>C (p.Arg288Pro) c.185G>C (p.Arg62Pro) c.524G>C (p.Arg175Pro) | |
1 | g.146018495C>T | CA1053908 | HJV | c.863G>A (p.Arg288Gln) c.185G>A (p.Arg62Gln) c.524G>A (p.Arg175Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018496G>A | CA1053907 | HJV | c.862C>T (p.Arg288Trp) c.184C>T (p.Arg62Trp) c.523C>T (p.Arg175Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018496G>C | CA29823807 | HJV | c.862C>G (p.Arg288Gly) c.184C>G (p.Arg62Gly) c.523C>G (p.Arg175Gly) | gnomAD v4 |
1 | g.146018496G= | CA1198820988 | HJV | c.862C= (p.Arg288=) c.184C= (p.Arg62=) c.523C= (p.Arg175=) | |
1 | g.146018496G>T | CA29823811 | HJV | c.862C>A (p.Arg288=) c.184C>A (p.Arg62=) c.523C>A (p.Arg175=) | |
1 | g.146018497A>C | CA342136268 | HJV | c.861T>G (p.Ile287Met) c.183T>G (p.Ile61Met) c.522T>G (p.Ile174Met) | |
1 | g.146018497A>G | CA420603530 | HJV | c.861T>C (p.Ile287=) c.183T>C (p.Ile61=) c.522T>C (p.Ile174=) | |
1 | g.146018497A>T | CA420603529 | HJV | c.861T>A (p.Ile287=) c.183T>A (p.Ile61=) c.522T>A (p.Ile174=) | |
1 | g.146018498A>C | CA342136269 | HJV | c.860T>G (p.Ile287Ser) c.182T>G (p.Ile61Ser) c.521T>G (p.Ile174Ser) | |
1 | g.146018498A>G | CA342136272 | HJV | c.860T>C (p.Ile287Thr) c.182T>C (p.Ile61Thr) c.521T>C (p.Ile174Thr) | |
1 | g.146018498A>T | CA342136276 | HJV | c.860T>A (p.Ile287Asn) c.182T>A (p.Ile61Asn) c.521T>A (p.Ile174Asn) | |
1 | g.146018499T>A | CA342136284 | HJV | c.859A>T (p.Ile287Phe) c.181A>T (p.Ile61Phe) c.520A>T (p.Ile174Phe) | |
1 | g.146018499T>C | CA342136290 | HJV | c.859A>G (p.Ile287Val) c.181A>G (p.Ile61Val) c.520A>G (p.Ile174Val) | |
1 | g.146018499T>G | CA342136292 | HJV | c.859A>C (p.Ile287Leu) c.181A>C (p.Ile61Leu) c.520A>C (p.Ile174Leu) | |
1 | g.146018500G>A | CA420603532 | HJV | c.858C>T (p.Ile286=) c.180C>T (p.Ile60=) c.519C>T (p.Ile173=) | dbSNP |
1 | g.146018500G>C | CA342136303 | HJV | c.858C>G (p.Ile286Met) c.180C>G (p.Ile60Met) c.519C>G (p.Ile173Met) | |
1 | g.146018500G= | CA1198820989 | HJV | c.858C= (p.Ile286=) c.180C= (p.Ile60=) c.519C= (p.Ile173=) | |
1 | g.146018500G>T | CA420603531 | HJV | c.858C>A (p.Ile286=) c.180C>A (p.Ile60=) c.519C>A (p.Ile173=) | gnomAD v4 |
1 | g.146018501A>C | CA342136308 | HJV | c.857T>G (p.Ile286Ser) c.179T>G (p.Ile60Ser) c.518T>G (p.Ile173Ser) | |
1 | g.146018501A>G | CA342136310 | HJV | c.857T>C (p.Ile286Thr) c.179T>C (p.Ile60Thr) c.518T>C (p.Ile173Thr) | |
1 | g.146018501A>T | CA342136316 | HJV | c.857T>A (p.Ile286Asn) c.179T>A (p.Ile60Asn) c.518T>A (p.Ile173Asn) | |
1 | g.146018502T>A | CA342136326 | HJV | c.856A>T (p.Ile286Phe) c.178A>T (p.Ile60Phe) c.517A>T (p.Ile173Phe) | |
1 | g.146018502T>C | CA342136334 | HJV | c.856A>G (p.Ile286Val) c.178A>G (p.Ile60Val) c.517A>G (p.Ile173Val) | |
1 | g.146018502T>G | CA342136357 | HJV | c.856A>C (p.Ile286Leu) c.178A>C (p.Ile60Leu) c.517A>C (p.Ile173Leu) | |
1 | g.146018503T>A | CA420603538 | HJV | c.855A>T (p.Ile285=) c.177A>T (p.Ile59=) c.516A>T (p.Ile172=) | |
1 | g.146018503T>C | CA342136363 | HJV | c.855A>G (p.Ile285Met) c.177A>G (p.Ile59Met) c.516A>G (p.Ile172Met) | |
1 | g.146018503T>G | CA420603537 | HJV | c.855A>C (p.Ile285=) c.177A>C (p.Ile59=) c.516A>C (p.Ile172=) | dbSNP gnomAD v4 |
1 | g.146018503T= | CA1198820990 | HJV | c.855A= (p.Ile285=) c.177A= (p.Ile59=) c.516A= (p.Ile172=) | |
1 | g.146018504A>C | CA342136365 | HJV | c.854T>G (p.Ile285Arg) c.176T>G (p.Ile59Arg) c.515T>G (p.Ile172Arg) | |
1 | g.146018504A>G | CA342136371 | HJV | c.854T>C (p.Ile285Thr) c.176T>C (p.Ile59Thr) c.515T>C (p.Ile172Thr) | |
1 | g.146018504A>T | CA342136367 | HJV | c.854T>A (p.Ile285Lys) c.176T>A (p.Ile59Lys) c.515T>A (p.Ile172Lys) | |
1 | g.146018505T>A | CA342136372 | HJV | c.853A>T (p.Ile285Leu) c.175A>T (p.Ile59Leu) c.514A>T (p.Ile172Leu) | |
1 | g.146018505T>C | CA342136373 | HJV | c.853A>G (p.Ile285Val) c.175A>G (p.Ile59Val) c.514A>G (p.Ile172Val) | dbSNP gnomAD v4 |
1 | g.146018505T>G | CA342136374 | HJV | c.853A>C (p.Ile285Leu) c.175A>C (p.Ile59Leu) c.514A>C (p.Ile172Leu) | |
1 | g.146018505T= | CA1198820991 | HJV | c.853A= (p.Ile285=) c.175A= (p.Ile59=) c.514A= (p.Ile172=) |