| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018404A= | CA1198820954 | HJV | c.954T= (p.Val318=) c.276T= (p.Val92=) c.615T= (p.Val205=) | |
| 1 | g.146018404A>C | CA420603389 | HJV | c.954T>G (p.Val318=) c.276T>G (p.Val92=) c.615T>G (p.Val205=) | |
| 1 | g.146018404A>G | CA420603388 | HJV | c.954T>C (p.Val318=) c.276T>C (p.Val92=) c.615T>C (p.Val205=) | gnomAD v4 |
| 1 | g.146018404A>T | CA420603390 | HJV | c.954T>A (p.Val318=) c.276T>A (p.Val92=) c.615T>A (p.Val205=) | dbSNP gnomAD v4 |
| 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) |