| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018205G>A | CA1053970 | HJV | c.1153C>T (p.Arg385Ter) c.475C>T (p.Arg159Ter) c.814C>T (p.Arg272Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018205G>C | CA1053971 | HJV | c.1153C>G (p.Arg385Gly) c.475C>G (p.Arg159Gly) c.814C>G (p.Arg272Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018205G= | CA1198820879 | HJV | c.1153C= (p.Arg385=) c.475C= (p.Arg159=) c.814C= (p.Arg272=) | |
| 1 | g.146018205G>T | CA1053969 | HJV | c.1153C>A (p.Arg385=) c.475C>A (p.Arg159=) c.814C>A (p.Arg272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018206G>A | CA1053968 | HJV | c.1152C>T (p.Ala384=) c.474C>T (p.Ala158=) c.813C>T (p.Ala271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018206G>C | CA29823028 | HJV | c.1152C>G (p.Ala384=) c.474C>G (p.Ala158=) c.813C>G (p.Ala271=) | |
| 1 | g.146018206G= | CA1198820880 | HJV | c.1152C= (p.Ala384=) c.474C= (p.Ala158=) c.813C= (p.Ala271=) | |
| 1 | g.146018206G>T | CA29823037 | HJV | c.1152C>A (p.Ala384=) c.474C>A (p.Ala158=) c.813C>A (p.Ala271=) | |
| 1 | g.146018207G>A | CA342132394 | HJV | c.1151C>T (p.Ala384Val) c.473C>T (p.Ala158Val) c.812C>T (p.Ala271Val) | dbSNP gnomAD v4 |
| 1 | g.146018207G>C | CA342132397 | HJV | c.1151C>G (p.Ala384Gly) c.473C>G (p.Ala158Gly) c.812C>G (p.Ala271Gly) | |
| 1 | g.146018207G= | CA1198820881 | HJV | c.1151C= (p.Ala384=) c.473C= (p.Ala158=) c.812C= (p.Ala271=) | |
| 1 | g.146018207G>T | CA342132399 | HJV | c.1151C>A (p.Ala384Asp) c.473C>A (p.Ala158Asp) c.812C>A (p.Ala271Asp) | |
| 1 | g.146018208C>A | CA342132407 | HJV | c.1150G>T (p.Ala384Ser) c.472G>T (p.Ala158Ser) c.811G>T (p.Ala271Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018208C= | CA1198820882 | HJV | c.1150G= (p.Ala384=) c.472G= (p.Ala158=) c.811G= (p.Ala271=) | |
| 1 | g.146018208C>G | CA342132401 | HJV | c.1150G>C (p.Ala384Pro) c.472G>C (p.Ala158Pro) c.811G>C (p.Ala271Pro) | |
| 1 | g.146018208C>T | CA342132404 | HJV | c.1150G>A (p.Ala384Thr) c.472G>A (p.Ala158Thr) c.811G>A (p.Ala271Thr) | |
| 1 | g.146018209A= | CA1198820883 | HJV | c.1149T= (p.Asp383=) c.471T= (p.Asp157=) c.810T= (p.Asp270=) | |
| 1 | g.146018209A>C | CA342132413 | HJV | c.1149T>G (p.Asp383Glu) c.471T>G (p.Asp157Glu) c.810T>G (p.Asp270Glu) | |
| 1 | g.146018209A>G | CA29823044 | HJV | c.1149T>C (p.Asp383=) c.471T>C (p.Asp157=) c.810T>C (p.Asp270=) | ClinVar dbSNP COSMIC |
| 1 | g.146018209A>T | CA342132414 | HJV | c.1149T>A (p.Asp383Glu) c.471T>A (p.Asp157Glu) c.810T>A (p.Asp270Glu) | |
| 1 | g.146018210T>A | CA342132417 | HJV | c.1148A>T (p.Asp383Val) c.470A>T (p.Asp157Val) c.809A>T (p.Asp270Val) | |
| 1 | g.146018210T>C | CA342132422 | HJV | c.1148A>G (p.Asp383Gly) c.470A>G (p.Asp157Gly) c.809A>G (p.Asp270Gly) | |
| 1 | g.146018210T>G | CA342132426 | HJV | c.1148A>C (p.Asp383Ala) c.470A>C (p.Asp157Ala) c.809A>C (p.Asp270Ala) | |
| 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=) |