| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018211C>A | CA342132432 | HJV | c.1147G>T (p.Asp383Tyr) c.469G>T (p.Asp157Tyr) c.808G>T (p.Asp270Tyr) | |
| 1 | g.146018211C>G | CA342132434 | HJV | c.1147G>C (p.Asp383His) c.469G>C (p.Asp157His) c.808G>C (p.Asp270His) | |
| 1 | g.146018211C>T | CA342132435 | HJV | c.1147G>A (p.Asp383Asn) c.469G>A (p.Asp157Asn) c.808G>A (p.Asp270Asn) | |
| 1 | g.146018212C>A | CA342132436 | HJV | c.1146G>T (p.Glu382Asp) c.468G>T (p.Glu156Asp) c.807G>T (p.Glu269Asp) | |
| 1 | g.146018212C>G | CA342132437 | HJV | c.1146G>C (p.Glu382Asp) c.468G>C (p.Glu156Asp) c.807G>C (p.Glu269Asp) | |
| 1 | g.146018212C>T | CA420250160 | HJV | c.1146G>A (p.Glu382=) c.468G>A (p.Glu156=) c.807G>A (p.Glu269=) | |
| 1 | g.146018213T>A | CA29823056 | HJV | c.1145A>T (p.Glu382Val) c.467A>T (p.Glu156Val) c.806A>T (p.Glu269Val) | |
| 1 | g.146018213T>C | CA29823067 | HJV | c.1145A>G (p.Glu382Gly) c.467A>G (p.Glu156Gly) c.806A>G (p.Glu269Gly) | |
| 1 | g.146018213T>G | CA1053967 | HJV | c.1145A>C (p.Glu382Ala) c.467A>C (p.Glu156Ala) c.806A>C (p.Glu269Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018213T= | CA1142042613 | HJV | c.1145A= (p.Glu382=) c.467A= (p.Glu156=) c.806A= (p.Glu269=) | |
| 1 | g.146018214C>A | CA342132461 | HJV | c.1144G>T (p.Glu382Ter) c.466G>T (p.Glu156Ter) c.805G>T (p.Glu269Ter) | |
| 1 | g.146018214C= | CA1198820884 | HJV | c.1144G= (p.Glu382=) c.466G= (p.Glu156=) c.805G= (p.Glu269=) | |
| 1 | g.146018214C>G | CA342132463 | HJV | c.1144G>C (p.Glu382Gln) c.466G>C (p.Glu156Gln) c.805G>C (p.Glu269Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018214C>T | CA342132456 | HJV | c.1144G>A (p.Glu382Lys) c.466G>A (p.Glu156Lys) c.805G>A (p.Glu269Lys) | dbSNP gnomAD v4 |
| 1 | g.146018215C>A | CA420250162 | HJV | c.1143G>T (p.Leu381=) c.465G>T (p.Leu155=) c.804G>T (p.Leu268=) | |
| 1 | g.146018215C>G | CA420250161 | HJV | c.1143G>C (p.Leu381=) c.465G>C (p.Leu155=) c.804G>C (p.Leu268=) | |
| 1 | g.146018215C>T | CA420250163 | HJV | c.1143G>A (p.Leu381=) c.465G>A (p.Leu155=) c.804G>A (p.Leu268=) | ClinVar gnomAD v4 |
| 1 | g.146018216A>C | CA342132474 | HJV | c.1142T>G (p.Leu381Arg) c.464T>G (p.Leu155Arg) c.803T>G (p.Leu268Arg) | ClinVar gnomAD v4 |
| 1 | g.146018216A>G | CA342132487 | HJV | c.1142T>C (p.Leu381Pro) c.464T>C (p.Leu155Pro) c.803T>C (p.Leu268Pro) | |
| 1 | g.146018216A>T | CA342132484 | HJV | c.1142T>A (p.Leu381Gln) c.464T>A (p.Leu155Gln) c.803T>A (p.Leu268Gln) | |
| 1 | g.146018217G>A | CA420250164 | HJV | c.1141C>T (p.Leu381=) c.463C>T (p.Leu155=) c.802C>T (p.Leu268=) | |
| 1 | g.146018217G>C | CA342132491 | HJV | c.1141C>G (p.Leu381Val) c.463C>G (p.Leu155Val) c.802C>G (p.Leu268Val) | dbSNP |
| 1 | g.146018217G= | CA1198820885 | HJV | c.1141C= (p.Leu381=) c.463C= (p.Leu155=) c.802C= (p.Leu268=) | |
| 1 | g.146018217G>T | CA342132495 | HJV | c.1141C>A (p.Leu381Met) c.463C>A (p.Leu155Met) c.802C>A (p.Leu268Met) | ClinVar dbSNP |
| 1 | g.146018218T>A | CA420250166 | HJV | c.1140A>T (p.Ala380=) c.462A>T (p.Ala154=) c.801A>T (p.Ala267=) | |
| 1 | g.146018218T>C | CA420250167 | HJV | c.1140A>G (p.Ala380=) c.462A>G (p.Ala154=) c.801A>G (p.Ala267=) | |
| 1 | g.146018218T>G | CA420250165 | HJV | c.1140A>C (p.Ala380=) c.462A>C (p.Ala154=) c.801A>C (p.Ala267=) | |
| 1 | g.146018219G>A | CA342132501 | HJV | c.1139C>T (p.Ala380Val) c.461C>T (p.Ala154Val) c.800C>T (p.Ala267Val) | |
| 1 | g.146018219G>C | CA342132510 | HJV | c.1139C>G (p.Ala380Gly) c.461C>G (p.Ala154Gly) c.800C>G (p.Ala267Gly) | |
| 1 | g.146018219G>T | CA342132512 | HJV | c.1139C>A (p.Ala380Glu) c.461C>A (p.Ala154Glu) c.800C>A (p.Ala267Glu) | |
| 1 | g.146018220C>A | CA342132523 | HJV | c.1138G>T (p.Ala380Ser) c.460G>T (p.Ala154Ser) c.799G>T (p.Ala267Ser) | |
| 1 | g.146018220C>G | CA342132531 | HJV | c.1138G>C (p.Ala380Pro) c.460G>C (p.Ala154Pro) c.799G>C (p.Ala267Pro) | |
| 1 | g.146018220C>T | CA342132534 | HJV | c.1138G>A (p.Ala380Thr) c.460G>A (p.Ala154Thr) c.799G>A (p.Ala267Thr) | |
| 1 | g.146018221T>A | CA420250170 | HJV | c.1137A>T (p.Ala379=) c.459A>T (p.Ala153=) c.798A>T (p.Ala266=) | |
| 1 | g.146018221T>C | CA420250169 | HJV | c.1137A>G (p.Ala379=) c.459A>G (p.Ala153=) c.798A>G (p.Ala266=) | |
| 1 | g.146018221T>G | CA420250168 | HJV | c.1137A>C (p.Ala379=) c.459A>C (p.Ala153=) c.798A>C (p.Ala266=) | |
| 1 | g.146018222G>A | CA29823087 | HJV | c.1136C>T (p.Ala379Val) c.458C>T (p.Ala153Val) c.797C>T (p.Ala266Val) | gnomAD v4 |
| 1 | g.146018222G>C | CA29823101 | HJV | c.1136C>G (p.Ala379Gly) c.458C>G (p.Ala153Gly) c.797C>G (p.Ala266Gly) | |
| 1 | g.146018222G= | CA1198820886 | HJV | c.1136C= (p.Ala379=) c.458C= (p.Ala153=) c.797C= (p.Ala266=) | |
| 1 | g.146018222G>T | CA1053966 | HJV | c.1136C>A (p.Ala379Glu) c.458C>A (p.Ala153Glu) c.797C>A (p.Ala266Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018223C>A | CA342132576 | HJV | c.1135G>T (p.Ala379Ser) c.457G>T (p.Ala153Ser) c.796G>T (p.Ala266Ser) | |
| 1 | g.146018223C>G | CA342132554 | HJV | c.1135G>C (p.Ala379Pro) c.457G>C (p.Ala153Pro) c.796G>C (p.Ala266Pro) | |
| 1 | g.146018223C>T | CA342132558 | HJV | c.1135G>A (p.Ala379Thr) c.457G>A (p.Ala153Thr) c.796G>A (p.Ala266Thr) | |
| 1 | g.146018224C>A | CA342132582 | HJV | c.1134G>T (p.Gln378His) c.456G>T (p.Gln152His) c.795G>T (p.Gln265His) | |
| 1 | g.146018224C>G | CA342132586 | HJV | c.1134G>C (p.Gln378His) c.456G>C (p.Gln152His) c.795G>C (p.Gln265His) | |
| 1 | g.146018224C>T | CA420250171 | HJV | c.1134G>A (p.Gln378=) c.456G>A (p.Gln152=) c.795G>A (p.Gln265=) | ClinVar dbSNP |
| 1 | g.146018225T>A | CA342132589 | HJV | c.1133A>T (p.Gln378Leu) c.455A>T (p.Gln152Leu) c.794A>T (p.Gln265Leu) | |
| 1 | g.146018225T>C | CA342132591 | HJV | c.1133A>G (p.Gln378Arg) c.455A>G (p.Gln152Arg) c.794A>G (p.Gln265Arg) | gnomAD v4 |
| 1 | g.146018225T>G | CA342132593 | HJV | c.1133A>C (p.Gln378Pro) c.455A>C (p.Gln152Pro) c.794A>C (p.Gln265Pro) | |
| 1 | g.146018226G>A | CA342132599 | HJV | c.1132C>T (p.Gln378Ter) c.454C>T (p.Gln152Ter) c.793C>T (p.Gln265Ter) |