| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |