| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018199A= | CA1198820876 | HJV | c.1159T= (p.Phe387=) c.481T= (p.Phe161=) c.820T= (p.Phe274=) | |
| 1 | g.146018199A>C | CA342132312 | HJV | c.1159T>G (p.Phe387Val) c.481T>G (p.Phe161Val) c.820T>G (p.Phe274Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018199A>G | CA342132315 | HJV | c.1159T>C (p.Phe387Leu) c.481T>C (p.Phe161Leu) c.820T>C (p.Phe274Leu) | |
| 1 | g.146018199A>T | CA342132328 | HJV | c.1159T>A (p.Phe387Ile) c.481T>A (p.Phe161Ile) c.820T>A (p.Phe274Ile) | |
| 1 | g.146018200G>A | CA420250150 | HJV | c.1158C>T (p.Ala386=) c.480C>T (p.Ala160=) c.819C>T (p.Ala273=) | |
| 1 | g.146018200G>C | CA420250148 | HJV | c.1158C>G (p.Ala386=) c.480C>G (p.Ala160=) c.819C>G (p.Ala273=) | |
| 1 | g.146018200G>T | CA420250151 | HJV | c.1158C>A (p.Ala386=) c.480C>A (p.Ala160=) c.819C>A (p.Ala273=) | |
| 1 | g.146018201G>A | CA342132344 | HJV | c.1157C>T (p.Ala386Val) c.479C>T (p.Ala160Val) c.818C>T (p.Ala273Val) | |
| 1 | g.146018201G>C | CA342132339 | HJV | c.1157C>G (p.Ala386Gly) c.479C>G (p.Ala160Gly) c.818C>G (p.Ala273Gly) | |
| 1 | g.146018201G>T | CA342132333 | HJV | c.1157C>A (p.Ala386Asp) c.479C>A (p.Ala160Asp) c.818C>A (p.Ala273Asp) | |
| 1 | g.146018202C>A | CA342132379 | HJV | c.1156G>T (p.Ala386Ser) c.478G>T (p.Ala160Ser) c.817G>T (p.Ala273Ser) | |
| 1 | g.146018202C= | CA1198820877 | HJV | c.1156G= (p.Ala386=) c.478G= (p.Ala160=) c.817G= (p.Ala273=) | |
| 1 | g.146018202C>G | CA342132362 | HJV | c.1156G>C (p.Ala386Pro) c.478G>C (p.Ala160Pro) c.817G>C (p.Ala273Pro) | |
| 1 | g.146018202C>T | CA342132375 | HJV | c.1156G>A (p.Ala386Thr) c.478G>A (p.Ala160Thr) c.817G>A (p.Ala273Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018203T>A | CA420250154 | HJV | c.1155A>T (p.Arg385=) c.477A>T (p.Arg159=) c.816A>T (p.Arg272=) | |
| 1 | g.146018203T>C | CA420250153 | HJV | c.1155A>G (p.Arg385=) c.477A>G (p.Arg159=) c.816A>G (p.Arg272=) | |
| 1 | g.146018203T>G | CA420250155 | HJV | c.1155A>C (p.Arg385=) c.477A>C (p.Arg159=) c.816A>C (p.Arg272=) | dbSNP gnomAD v4 |
| 1 | g.146018203T= | CA1198820878 | HJV | c.1155A= (p.Arg385=) c.477A= (p.Arg159=) c.816A= (p.Arg272=) | |
| 1 | g.146018204C>A | CA342132381 | HJV | c.1154G>T (p.Arg385Leu) c.476G>T (p.Arg159Leu) c.815G>T (p.Arg272Leu) | |
| 1 | g.146018204C= | CA1144106349 | HJV | c.1154G= (p.Arg385=) c.476G= (p.Arg159=) c.815G= (p.Arg272=) | |
| 1 | g.146018204C>G | CA342132383 | HJV | c.1154G>C (p.Arg385Pro) c.476G>C (p.Arg159Pro) c.815G>C (p.Arg272Pro) | gnomAD v4 |
| 1 | g.146018204C>T | CA1053972 | HJV | c.1154G>A (p.Arg385Gln) c.476G>A (p.Arg159Gln) c.815G>A (p.Arg272Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |