Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.146018188G>A | CA420250128 | HJV | c.1170C>T (p.Asp390=) c.492C>T (p.Asp164=) c.831C>T (p.Asp277=) | |
1 | g.146018188G>C | CA342132208 | HJV | c.1170C>G (p.Asp390Glu) c.492C>G (p.Asp164Glu) c.831C>G (p.Asp277Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018188G= | CA1198820872 | HJV | c.1170C= (p.Asp390=) c.492C= (p.Asp164=) c.831C= (p.Asp277=) | |
1 | g.146018188G>T | CA342132211 | HJV | c.1170C>A (p.Asp390Glu) c.492C>A (p.Asp164Glu) c.831C>A (p.Asp277Glu) | |
1 | g.146018189T>A | CA342132212 | HJV | c.1169A>T (p.Asp390Val) c.491A>T (p.Asp164Val) c.830A>T (p.Asp277Val) | gnomAD v4 |
1 | g.146018189T>C | CA342132214 | HJV | c.1169A>G (p.Asp390Gly) c.491A>G (p.Asp164Gly) c.830A>G (p.Asp277Gly) | dbSNP |
1 | g.146018189T>G | CA342132226 | HJV | c.1169A>C (p.Asp390Ala) c.491A>C (p.Asp164Ala) c.830A>C (p.Asp277Ala) | |
1 | g.146018190C>A | CA342132230 | HJV | c.1168G>T (p.Asp390Tyr) c.490G>T (p.Asp164Tyr) c.829G>T (p.Asp277Tyr) | |
1 | g.146018190C>G | CA342132237 | HJV | c.1168G>C (p.Asp390His) c.490G>C (p.Asp164His) c.829G>C (p.Asp277His) | |
1 | g.146018190C>T | CA342132248 | HJV | c.1168G>A (p.Asp390Asn) c.490G>A (p.Asp164Asn) c.829G>A (p.Asp277Asn) | |
1 | g.146018191T>A | CA420250132 | HJV | c.1167A>T (p.Pro389=) c.489A>T (p.Pro163=) c.828A>T (p.Pro276=) | |
1 | g.146018191T>C | CA420250130 | HJV | c.1167A>G (p.Pro389=) c.489A>G (p.Pro163=) c.828A>G (p.Pro276=) | |
1 | g.146018191T>G | CA420250131 | HJV | c.1167A>C (p.Pro389=) c.489A>C (p.Pro163=) c.828A>C (p.Pro276=) | |
1 | g.146018192G>A | CA342132254 | HJV | c.1166C>T (p.Pro389Leu) c.488C>T (p.Pro163Leu) c.827C>T (p.Pro276Leu) | |
1 | g.146018192G>C | CA342132263 | HJV | c.1166C>G (p.Pro389Arg) c.488C>G (p.Pro163Arg) c.827C>G (p.Pro276Arg) | |
1 | g.146018192G>T | CA342132266 | HJV | c.1166C>A (p.Pro389Gln) c.488C>A (p.Pro163Gln) c.827C>A (p.Pro276Gln) | |
1 | g.146018192_146018197del | CA2647575226 | HJV | c.1161_1166del (p.Phe387_Pro389delinsLeu) c.483_488del (p.Phe161_Pro163delinsLeu) c.822_827del (p.Phe274_Pro276delinsLeu) | gnomAD v4 |
1 | g.146018193G>A | CA342132270 | HJV | c.1165C>T (p.Pro389Ser) c.487C>T (p.Pro163Ser) c.826C>T (p.Pro276Ser) | gnomAD v4 |
1 | g.146018193G>C | CA342132268 | HJV | c.1165C>G (p.Pro389Ala) c.487C>G (p.Pro163Ala) c.826C>G (p.Pro276Ala) | |
1 | g.146018193G>T | CA342132267 | HJV | c.1165C>A (p.Pro389Thr) c.487C>A (p.Pro163Thr) c.826C>A (p.Pro276Thr) | |
1 | g.146018194C>A | CA420250138 | HJV | c.1164G>T (p.Leu388=) c.486G>T (p.Leu162=) c.825G>T (p.Leu275=) | |
1 | g.146018194C= | CA1198820873 | HJV | c.1164G= (p.Leu388=) c.486G= (p.Leu162=) c.825G= (p.Leu275=) | |
1 | g.146018194C>G | CA420250139 | HJV | c.1164G>C (p.Leu388=) c.486G>C (p.Leu162=) c.825G>C (p.Leu275=) | |
1 | g.146018194C>T | CA420250137 | HJV | c.1164G>A (p.Leu388=) c.486G>A (p.Leu162=) c.825G>A (p.Leu275=) | ClinVar dbSNP |
1 | g.146018195A>C | CA342132273 | HJV | c.1163T>G (p.Leu388Arg) c.485T>G (p.Leu162Arg) c.824T>G (p.Leu275Arg) | |
1 | g.146018195A>G | CA342132281 | HJV | c.1163T>C (p.Leu388Pro) c.485T>C (p.Leu162Pro) c.824T>C (p.Leu275Pro) | |
1 | g.146018195A>T | CA342132290 | HJV | c.1163T>A (p.Leu388Gln) c.485T>A (p.Leu162Gln) c.824T>A (p.Leu275Gln) | |
1 | g.146018196G>A | CA420250143 | HJV | c.1162C>T (p.Leu388=) c.484C>T (p.Leu162=) c.823C>T (p.Leu275=) | ClinVar dbSNP gnomAD v4 |
1 | g.146018196G>C | CA342132292 | HJV | c.1162C>G (p.Leu388Val) c.484C>G (p.Leu162Val) c.823C>G (p.Leu275Val) | dbSNP |
1 | g.146018196G= | CA1198820874 | HJV | c.1162C= (p.Leu388=) c.484C= (p.Leu162=) c.823C= (p.Leu275=) | |
1 | g.146018196G>T | CA342132294 | HJV | c.1162C>A (p.Leu388Met) c.484C>A (p.Leu162Met) c.823C>A (p.Leu275Met) | |
1 | g.146018197G>A | CA420250144 | HJV | c.1161C>T (p.Phe387=) c.483C>T (p.Phe161=) c.822C>T (p.Phe274=) | gnomAD v4 |
1 | g.146018197G>C | CA342132296 | HJV | c.1161C>G (p.Phe387Leu) c.483C>G (p.Phe161Leu) c.822C>G (p.Phe274Leu) | |
1 | g.146018197G>T | CA342132298 | HJV | c.1161C>A (p.Phe387Leu) c.483C>A (p.Phe161Leu) c.822C>A (p.Phe274Leu) | |
1 | g.146018198A= | CA1198820875 | HJV | c.1160T= (p.Phe387=) c.482T= (p.Phe161=) c.821T= (p.Phe274=) | |
1 | g.146018198A>C | CA29823010 | HJV | c.1160T>G (p.Phe387Cys) c.482T>G (p.Phe161Cys) c.821T>G (p.Phe274Cys) | |
1 | g.146018198A>G | CA1053973 | HJV | c.1160T>C (p.Phe387Ser) c.482T>C (p.Phe161Ser) c.821T>C (p.Phe274Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018198A>T | CA29823014 | HJV | c.1160T>A (p.Phe387Tyr) c.482T>A (p.Phe161Tyr) c.821T>A (p.Phe274Tyr) | |
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) | ClinVar 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=) | |
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) | |
1 | g.146018226G>C | CA342132604 | HJV | c.1132C>G (p.Gln378Glu) c.454C>G (p.Gln152Glu) c.793C>G (p.Gln265Glu) | |
1 | g.146018226G>T | CA342132606 | HJV | c.1132C>A (p.Gln378Lys) c.454C>A (p.Gln152Lys) c.793C>A (p.Gln265Lys) | |
1 | g.146018227A>C | CA420250173 | HJV | c.1131T>G (p.Ala377=) c.453T>G (p.Ala151=) c.792T>G (p.Ala264=) | |
1 | g.146018227A>G | CA420250172 | HJV | c.1131T>C (p.Ala377=) c.453T>C (p.Ala151=) c.792T>C (p.Ala264=) | |
1 | g.146018227A>T | CA420250174 | HJV | c.1131T>A (p.Ala377=) c.453T>A (p.Ala151=) c.792T>A (p.Ala264=) | |
1 | g.146018228G>A | CA342132613 | HJV | c.1130C>T (p.Ala377Val) c.452C>T (p.Ala151Val) c.791C>T (p.Ala264Val) | |
1 | g.146018228G>C | CA342132615 | HJV | c.1130C>G (p.Ala377Gly) c.452C>G (p.Ala151Gly) c.791C>G (p.Ala264Gly) | |
1 | g.146018228G>T | CA342132626 | HJV | c.1130C>A (p.Ala377Asp) c.452C>A (p.Ala151Asp) c.791C>A (p.Ala264Asp) | |
1 | g.146018229C>A | CA342132676 | HJV | c.1129G>T (p.Ala377Ser) c.451G>T (p.Ala151Ser) c.790G>T (p.Ala264Ser) | |
1 | g.146018229C= | CA1198820887 | HJV | c.1129G= (p.Ala377=) c.451G= (p.Ala151=) c.790G= (p.Ala264=) | |
1 | g.146018229C>G | CA342132679 | HJV | c.1129G>C (p.Ala377Pro) c.451G>C (p.Ala151Pro) c.790G>C (p.Ala264Pro) | |
1 | g.146018229C>T | CA342132669 | HJV | c.1129G>A (p.Ala377Thr) c.451G>A (p.Ala151Thr) c.790G>A (p.Ala264Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018230T>A | CA420250177 | HJV | c.1128A>T (p.Ala376=) c.450A>T (p.Ala150=) c.789A>T (p.Ala263=) | |
1 | g.146018230T>C | CA420250175 | HJV | c.1128A>G (p.Ala376=) c.450A>G (p.Ala150=) c.789A>G (p.Ala263=) | |
1 | g.146018230T>G | CA420250176 | HJV | c.1128A>C (p.Ala376=) c.450A>C (p.Ala150=) c.789A>C (p.Ala263=) | dbSNP |
1 | g.146018230T= | CA1198820888 | HJV | c.1128A= (p.Ala376=) c.450A= (p.Ala150=) c.789A= (p.Ala263=) | |
1 | g.146018231G>A | CA342132685 | HJV | c.1127C>T (p.Ala376Val) c.449C>T (p.Ala150Val) c.788C>T (p.Ala263Val) | |
1 | g.146018231G>C | CA342132693 | HJV | c.1127C>G (p.Ala376Gly) c.449C>G (p.Ala150Gly) c.788C>G (p.Ala263Gly) | |
1 | g.146018231G>T | CA342132696 | HJV | c.1127C>A (p.Ala376Glu) c.449C>A (p.Ala150Glu) c.788C>A (p.Ala263Glu) | COSMIC |
1 | g.146018232C>A | CA342132699 | HJV | c.1126G>T (p.Ala376Ser) c.448G>T (p.Ala150Ser) c.787G>T (p.Ala263Ser) | |
1 | g.146018232C>G | CA342132702 | HJV | c.1126G>C (p.Ala376Pro) c.448G>C (p.Ala150Pro) c.787G>C (p.Ala263Pro) | |
1 | g.146018232C>T | CA342132704 | HJV | c.1126G>A (p.Ala376Thr) c.448G>A (p.Ala150Thr) c.787G>A (p.Ala263Thr) | gnomAD v4 |
1 | g.146018233C>A | CA420250180 | HJV | c.1125G>T (p.Val375=) c.447G>T (p.Val149=) c.786G>T (p.Val262=) | |
1 | g.146018233C>G | CA420250179 | HJV | c.1125G>C (p.Val375=) c.447G>C (p.Val149=) c.786G>C (p.Val262=) | |
1 | g.146018233C>T | CA420250178 | HJV | c.1125G>A (p.Val375=) c.447G>A (p.Val149=) c.786G>A (p.Val262=) | |
1 | g.146018234A>C | CA342132722 | HJV | c.1124T>G (p.Val375Gly) c.446T>G (p.Val149Gly) c.785T>G (p.Val262Gly) | |
1 | g.146018234A>G | CA342132714 | HJV | c.1124T>C (p.Val375Ala) c.446T>C (p.Val149Ala) c.785T>C (p.Val262Ala) | dbSNP |
1 | g.146018234A>T | CA342132719 | HJV | c.1124T>A (p.Val375Glu) c.446T>A (p.Val149Glu) c.785T>A (p.Val262Glu) | |
1 | g.146018235C>A | CA342132725 | HJV | c.1123G>T (p.Val375Leu) c.445G>T (p.Val149Leu) c.784G>T (p.Val262Leu) | |
1 | g.146018235C= | CA1198820889 | HJV | c.1123G= (p.Val375=) c.445G= (p.Val149=) c.784G= (p.Val262=) | |
1 | g.146018235C>G | CA342132728 | HJV | c.1123G>C (p.Val375Leu) c.445G>C (p.Val149Leu) c.784G>C (p.Val262Leu) | |
1 | g.146018235C>T | CA1053965 | HJV | c.1123G>A (p.Val375Met) c.445G>A (p.Val149Met) c.784G>A (p.Val262Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018236G>A | CA1053964 | HJV | c.1122C>T (p.Thr374=) c.444C>T (p.Thr148=) c.783C>T (p.Thr261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018236G>C | CA29823109 | HJV | c.1122C>G (p.Thr374=) c.444C>G (p.Thr148=) c.783C>G (p.Thr261=) | |
1 | g.146018236G= | CA1198820890 | HJV | c.1122C= (p.Thr374=) c.444C= (p.Thr148=) c.783C= (p.Thr261=) | |
1 | g.146018236G>T | CA29823132 | HJV | c.1122C>A (p.Thr374=) c.444C>A (p.Thr148=) c.783C>A (p.Thr261=) | |
1 | g.146018237G>A | CA342132743 | HJV | c.1121C>T (p.Thr374Ile) c.443C>T (p.Thr148Ile) c.782C>T (p.Thr261Ile) | gnomAD v4 |
1 | g.146018237G>C | CA342132745 | HJV | c.1121C>G (p.Thr374Ser) c.443C>G (p.Thr148Ser) c.782C>G (p.Thr261Ser) | |
1 | g.146018237G>T | CA342132744 | HJV | c.1121C>A (p.Thr374Asn) c.443C>A (p.Thr148Asn) c.782C>A (p.Thr261Asn) | |
1 | g.146018238T>A | CA342132747 | HJV | c.1120A>T (p.Thr374Ser) c.442A>T (p.Thr148Ser) c.781A>T (p.Thr261Ser) | |
1 | g.146018238T>C | CA342132751 | HJV | c.1120A>G (p.Thr374Ala) c.442A>G (p.Thr148Ala) c.781A>G (p.Thr261Ala) | dbSNP gnomAD v4 |
1 | g.146018238T>G | CA342132756 | HJV | c.1120A>C (p.Thr374Pro) c.442A>C (p.Thr148Pro) c.781A>C (p.Thr261Pro) | |
1 | g.146018239A>C | CA342132760 | HJV | c.1119T>G (p.Phe373Leu) c.441T>G (p.Phe147Leu) c.780T>G (p.Phe260Leu) | |
1 | g.146018239A>G | CA420250181 | HJV | c.1119T>C (p.Phe373=) c.441T>C (p.Phe147=) c.780T>C (p.Phe260=) | |
1 | g.146018239A>T | CA342132764 | HJV | c.1119T>A (p.Phe373Leu) c.441T>A (p.Phe147Leu) c.780T>A (p.Phe260Leu) | |
1 | g.146018240A>C | CA342132771 | HJV | c.1118T>G (p.Phe373Cys) c.440T>G (p.Phe147Cys) c.779T>G (p.Phe260Cys) | COSMIC |
1 | g.146018240A>G | CA342132777 | HJV | c.1118T>C (p.Phe373Ser) c.440T>C (p.Phe147Ser) c.779T>C (p.Phe260Ser) | gnomAD v4 |
1 | g.146018240A>T | CA342132780 | HJV | c.1118T>A (p.Phe373Tyr) c.440T>A (p.Phe147Tyr) c.779T>A (p.Phe260Tyr) | |
1 | g.146018241A>C | CA342132785 | HJV | c.1117T>G (p.Phe373Val) c.439T>G (p.Phe147Val) c.778T>G (p.Phe260Val) | |
1 | g.146018241A>G | CA342132788 | HJV | c.1117T>C (p.Phe373Leu) c.439T>C (p.Phe147Leu) c.778T>C (p.Phe260Leu) | |
1 | g.146018241A>T | CA342132793 | HJV | c.1117T>A (p.Phe373Ile) c.439T>A (p.Phe147Ile) c.778T>A (p.Phe260Ile) | |
1 | g.146018242G>A | CA420250182 | HJV | c.1116C>T (p.Asn372=) c.438C>T (p.Asn146=) c.777C>T (p.Asn259=) | gnomAD v4 |
1 | g.146018242G>C | CA342132807 | HJV | c.1116C>G (p.Asn372Lys) c.438C>G (p.Asn146Lys) c.777C>G (p.Asn259Lys) | |
1 | g.146018242G= | CA1198820891 | HJV | c.1116C= (p.Asn372=) c.438C= (p.Asn146=) c.777C= (p.Asn259=) | |
1 | g.146018242G>T | CA342132811 | HJV | c.1116C>A (p.Asn372Lys) c.438C>A (p.Asn146Lys) c.777C>A (p.Asn259Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018243T>A | CA29823152 | HJV | c.1115A>T (p.Asn372Ile) c.437A>T (p.Asn146Ile) c.776A>T (p.Asn259Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018243T>C | CA342132829 | HJV | c.1115A>G (p.Asn372Ser) c.437A>G (p.Asn146Ser) c.776A>G (p.Asn259Ser) | |
1 | g.146018243T>G | CA342132816 | HJV | c.1115A>C (p.Asn372Thr) c.437A>C (p.Asn146Thr) c.776A>C (p.Asn259Thr) | |
1 | g.146018243T= | CA1142408288 | HJV | c.1115A= (p.Asn372=) c.437A= (p.Asn146=) c.776A= (p.Asn259=) | |
1 | g.146018244T>A | CA29823180 | HJV | c.1114A>T (p.Asn372Tyr) c.436A>T (p.Asn146Tyr) c.775A>T (p.Asn259Tyr) | |
1 | g.146018244T>C | CA1053962 | HJV | c.1114A>G (p.Asn372Asp) c.436A>G (p.Asn146Asp) c.775A>G (p.Asn259Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018244T>G | CA1053963 | HJV | c.1114A>C (p.Asn372His) c.436A>C (p.Asn146His) c.775A>C (p.Asn259His) | dbSNP ExAC |
1 | g.146018244T= | CA1198820892 | HJV | c.1114A= (p.Asn372=) c.436A= (p.Asn146=) c.775A= (p.Asn259=) | |
1 | g.146018245G>A | CA10608057 | HJV | c.1113C>T (p.Pro371=) c.435C>T (p.Pro145=) c.774C>T (p.Pro258=) | ClinVar dbSNP |
1 | g.146018245G>C | CA420250184 | HJV | c.1113C>G (p.Pro371=) c.435C>G (p.Pro145=) c.774C>G (p.Pro258=) | |
1 | g.146018245G= | CA1198820893 | HJV | c.1113C= (p.Pro371=) c.435C= (p.Pro145=) c.774C= (p.Pro258=) | |
1 | g.146018245G>T | CA420250183 | HJV | c.1113C>A (p.Pro371=) c.435C>A (p.Pro145=) c.774C>A (p.Pro258=) | COSMIC |
1 | g.146018246G>A | CA1053961 | HJV | c.1112C>T (p.Pro371Leu) c.434C>T (p.Pro145Leu) c.773C>T (p.Pro258Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018246G>C | CA29823194 | HJV | c.1112C>G (p.Pro371Arg) c.434C>G (p.Pro145Arg) c.773C>G (p.Pro258Arg) | |
1 | g.146018246G= | CA1198820894 | HJV | c.1112C= (p.Pro371=) c.434C= (p.Pro145=) c.773C= (p.Pro258=) | |
1 | g.146018246G>T | CA29823198 | HJV | c.1112C>A (p.Pro371His) c.434C>A (p.Pro145His) c.773C>A (p.Pro258His) | |
1 | g.146018247G>A | CA342132868 | HJV | c.1111C>T (p.Pro371Ser) c.433C>T (p.Pro145Ser) c.772C>T (p.Pro258Ser) | gnomAD v4 COSMIC |
1 | g.146018247G>C | CA342132872 | HJV | c.1111C>G (p.Pro371Ala) c.433C>G (p.Pro145Ala) c.772C>G (p.Pro258Ala) | |
1 | g.146018247G>T | CA342132874 | HJV | c.1111C>A (p.Pro371Thr) c.433C>A (p.Pro145Thr) c.772C>A (p.Pro258Thr) | |
1 | g.146018248A= | CA1143819761 | HJV | c.1110T= (p.Asp370=) c.432T= (p.Asp144=) c.771T= (p.Asp257=) | |
1 | g.146018248A>C | CA29823206 | HJV | c.1110T>G (p.Asp370Glu) c.432T>G (p.Asp144Glu) c.771T>G (p.Asp257Glu) | |
1 | g.146018248A>G | CA1053960 | HJV | c.1110T>C (p.Asp370=) c.432T>C (p.Asp144=) c.771T>C (p.Asp257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018248A>T | CA29823223 | HJV | c.1110T>A (p.Asp370Glu) c.432T>A (p.Asp144Glu) c.771T>A (p.Asp257Glu) | |
1 | g.146018249T>A | CA342132879 | HJV | c.1109A>T (p.Asp370Val) c.431A>T (p.Asp144Val) c.770A>T (p.Asp257Val) | gnomAD v4 |
1 | g.146018249T>C | CA342132880 | HJV | c.1109A>G (p.Asp370Gly) c.431A>G (p.Asp144Gly) c.770A>G (p.Asp257Gly) | |
1 | g.146018249T>G | CA342132886 | HJV | c.1109A>C (p.Asp370Ala) c.431A>C (p.Asp144Ala) c.770A>C (p.Asp257Ala) | |
1 | g.146018250C>A | CA29823231 | HJV | c.1108G>T (p.Asp370Tyr) c.430G>T (p.Asp144Tyr) c.769G>T (p.Asp257Tyr) | |
1 | g.146018250C= | CA1198820895 | HJV | c.1108G= (p.Asp370=) c.430G= (p.Asp144=) c.769G= (p.Asp257=) | |
1 | g.146018250C>G | CA29823235 | HJV | c.1108G>C (p.Asp370His) c.430G>C (p.Asp144His) c.769G>C (p.Asp257His) | |
1 | g.146018250C>T | CA1053959 | HJV | c.1108G>A (p.Asp370Asn) c.430G>A (p.Asp144Asn) c.769G>A (p.Asp257Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018251A= | CA1198820896 | HJV | c.1107T= (p.Gly369=) c.429T= (p.Gly143=) c.768T= (p.Gly256=) | |
1 | g.146018251A>C | CA420250186 | HJV | c.1107T>G (p.Gly369=) c.429T>G (p.Gly143=) c.768T>G (p.Gly256=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018251A>G | CA420250185 | HJV | c.1107T>C (p.Gly369=) c.429T>C (p.Gly143=) c.768T>C (p.Gly256=) | |
1 | g.146018251A>T | CA420250187 | HJV | c.1107T>A (p.Gly369=) c.429T>A (p.Gly143=) c.768T>A (p.Gly256=) | |
1 | g.146018252C>A | CA342132897 | HJV | c.1106G>T (p.Gly369Val) c.428G>T (p.Gly143Val) c.767G>T (p.Gly256Val) | |
1 | g.146018252C>G | CA342132895 | HJV | c.1106G>C (p.Gly369Ala) c.428G>C (p.Gly143Ala) c.767G>C (p.Gly256Ala) | |
1 | g.146018252C>T | CA342132896 | HJV | c.1106G>A (p.Gly369Asp) c.428G>A (p.Gly143Asp) c.767G>A (p.Gly256Asp) | |
1 | g.146018253C>A | CA342132898 | HJV | c.1105G>T (p.Gly369Cys) c.427G>T (p.Gly143Cys) c.766G>T (p.Gly256Cys) | |
1 | g.146018253C>G | CA342132899 | HJV | c.1105G>C (p.Gly369Arg) c.427G>C (p.Gly143Arg) c.766G>C (p.Gly256Arg) | |
1 | g.146018253C>T | CA342132901 | HJV | c.1105G>A (p.Gly369Ser) c.427G>A (p.Gly143Ser) c.766G>A (p.Gly256Ser) | |
1 | g.146018254A>C | CA420250188 | HJV | c.1104T>G (p.Ser368=) c.426T>G (p.Ser142=) c.765T>G (p.Ser255=) | |
1 | g.146018254A>G | CA420250189 | HJV | c.1104T>C (p.Ser368=) c.426T>C (p.Ser142=) c.765T>C (p.Ser255=) | |
1 | g.146018254A>T | CA420250190 | HJV | c.1104T>A (p.Ser368=) c.426T>A (p.Ser142=) c.765T>A (p.Ser255=) | |
1 | g.146018255G>A | CA342132905 | HJV | c.1103C>T (p.Ser368Phe) c.425C>T (p.Ser142Phe) c.764C>T (p.Ser255Phe) | |
1 | g.146018255G>C | CA342132913 | HJV | c.1103C>G (p.Ser368Cys) c.425C>G (p.Ser142Cys) c.764C>G (p.Ser255Cys) | |
1 | g.146018255G>T | CA342132916 | HJV | c.1103C>A (p.Ser368Tyr) c.425C>A (p.Ser142Tyr) c.764C>A (p.Ser255Tyr) | |
1 | g.146018256A= | CA1198820897 | HJV | c.1102T= (p.Ser368=) c.424T= (p.Ser142=) c.763T= (p.Ser255=) | |
1 | g.146018256A>C | CA342132919 | HJV | c.1102T>G (p.Ser368Ala) c.424T>G (p.Ser142Ala) c.763T>G (p.Ser255Ala) | |
1 | g.146018256A>G | CA342132921 | HJV | c.1102T>C (p.Ser368Pro) c.424T>C (p.Ser142Pro) c.763T>C (p.Ser255Pro) | dbSNP |
1 | g.146018256A>T | CA342132923 | HJV | c.1102T>A (p.Ser368Thr) c.424T>A (p.Ser142Thr) c.763T>A (p.Ser255Thr) | |
1 | g.146018257A>C | CA342132934 | HJV | c.1101T>G (p.Ile367Met) c.423T>G (p.Ile141Met) c.762T>G (p.Ile254Met) | |
1 | g.146018257A>G | CA420250198 | HJV | c.1101T>C (p.Ile367=) c.423T>C (p.Ile141=) c.762T>C (p.Ile254=) | |
1 | g.146018257A>T | CA420250199 | HJV | c.1101T>A (p.Ile367=) c.423T>A (p.Ile141=) c.762T>A (p.Ile254=) | ClinVar gnomAD v4 |
1 | g.146018258A= | CA1198820898 | HJV | c.1100T= (p.Ile367=) c.422T= (p.Ile141=) c.761T= (p.Ile254=) | |
1 | g.146018258A>C | CA342132940 | HJV | c.1100T>G (p.Ile367Ser) c.422T>G (p.Ile141Ser) c.761T>G (p.Ile254Ser) | |
1 | g.146018258A>G | CA29823241 | HJV | c.1100T>C (p.Ile367Thr) c.422T>C (p.Ile141Thr) c.761T>C (p.Ile254Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018258A>T | CA342132947 | HJV | c.1100T>A (p.Ile367Asn) c.422T>A (p.Ile141Asn) c.761T>A (p.Ile254Asn) | |
1 | g.146018259T>A | CA342132961 | HJV | c.1099A>T (p.Ile367Phe) c.421A>T (p.Ile141Phe) c.760A>T (p.Ile254Phe) | |
1 | g.146018259T>C | CA342132959 | HJV | c.1099A>G (p.Ile367Val) c.421A>G (p.Ile141Val) c.760A>G (p.Ile254Val) | |
1 | g.146018259T>G | CA342132960 | HJV | c.1099A>C (p.Ile367Leu) c.421A>C (p.Ile141Leu) c.760A>C (p.Ile254Leu) | |
1 | g.146018260T>A | CA342132962 | HJV | c.1098A>T (p.Leu366Phe) c.420A>T (p.Leu140Phe) c.759A>T (p.Leu253Phe) | |
1 | g.146018260T>C | CA420250207 | HJV | c.1098A>G (p.Leu366=) c.420A>G (p.Leu140=) c.759A>G (p.Leu253=) | COSMIC |
1 | g.146018260T>G | CA342132964 | HJV | c.1098A>C (p.Leu366Phe) c.420A>C (p.Leu140Phe) c.759A>C (p.Leu253Phe) | |
1 | g.146018261A= | CA1198820899 | HJV | c.1097T= (p.Leu366=) c.419T= (p.Leu140=) c.758T= (p.Leu253=) | |
1 | g.146018261A>C | CA342132966 | HJV | c.1097T>G (p.Leu366Ter) c.419T>G (p.Leu140Ter) c.758T>G (p.Leu253Ter) | |
1 | g.146018261A>G | CA342132967 | HJV | c.1097T>C (p.Leu366Ser) c.419T>C (p.Leu140Ser) c.758T>C (p.Leu253Ser) | |
1 | g.146018261A>T | CA342132968 | HJV | c.1097T>A (p.Leu366Ter) c.419T>A (p.Leu140Ter) c.758T>A (p.Leu253Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018262A>C | CA342132969 | HJV | c.1096T>G (p.Leu366Val) c.418T>G (p.Leu140Val) c.757T>G (p.Leu253Val) | |
1 | g.146018262A>G | CA420250216 | HJV | c.1096T>C (p.Leu366=) c.418T>C (p.Leu140=) c.757T>C (p.Leu253=) | |
1 | g.146018262A>T | CA342132970 | HJV | c.1096T>A (p.Leu366Ile) c.418T>A (p.Leu140Ile) c.757T>A (p.Leu253Ile) | |
1 | g.146018263A>C | CA420250221 | HJV | c.1095T>G (p.Val365=) c.417T>G (p.Val139=) c.756T>G (p.Val252=) | |
1 | g.146018263A>G | CA420250219 | HJV | c.1095T>C (p.Val365=) c.417T>C (p.Val139=) c.756T>C (p.Val252=) | |
1 | g.146018263A>T | CA420250222 | HJV | c.1095T>A (p.Val365=) c.417T>A (p.Val139=) c.756T>A (p.Val252=) | |
1 | g.146018264A>C | CA342132990 | HJV | c.1094T>G (p.Val365Gly) c.416T>G (p.Val139Gly) c.755T>G (p.Val252Gly) | |
1 | g.146018264A>G | CA342132974 | HJV | c.1094T>C (p.Val365Ala) c.416T>C (p.Val139Ala) c.755T>C (p.Val252Ala) | |
1 | g.146018264A>T | CA342132985 | HJV | c.1094T>A (p.Val365Asp) c.416T>A (p.Val139Asp) c.755T>A (p.Val252Asp) | |
1 | g.146018264_146018265delinsAC | CA1198820900 | HJV | c.1093_1094delinsGT (p.Val365=) c.415_416delinsGT (p.Val139=) c.754_755delinsGT (p.Val252=) | |
1 | g.146018265del | CA888578683 | HJV | c.1093del (p.Val365PhefsTer2) c.415del (p.Val139PhefsTer2) c.754del (p.Val252PhefsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018265C>A | CA342132995 | HJV | c.1093G>T (p.Val365Phe) c.415G>T (p.Val139Phe) c.754G>T (p.Val252Phe) | |
1 | g.146018265C>G | CA342133006 | HJV | c.1093G>C (p.Val365Leu) c.415G>C (p.Val139Leu) c.754G>C (p.Val252Leu) | |
1 | g.146018265C>T | CA342133010 | HJV | c.1093G>A (p.Val365Ile) c.415G>A (p.Val139Ile) c.754G>A (p.Val252Ile) | gnomAD v4 |
1 | g.146018266A>C | CA342133012 | HJV | c.1092T>G (p.Asp364Glu) c.414T>G (p.Asp138Glu) c.753T>G (p.Asp251Glu) | |
1 | g.146018266A>G | CA420250229 | HJV | c.1092T>C (p.Asp364=) c.414T>C (p.Asp138=) c.753T>C (p.Asp251=) | COSMIC |
1 | g.146018266A>T | CA342133018 | HJV | c.1092T>A (p.Asp364Glu) c.414T>A (p.Asp138Glu) c.753T>A (p.Asp251Glu) | |
1 | g.146018267T>A | CA342133021 | HJV | c.1091A>T (p.Asp364Val) c.413A>T (p.Asp138Val) c.752A>T (p.Asp251Val) | |
1 | g.146018267T>C | CA342133025 | HJV | c.1091A>G (p.Asp364Gly) c.413A>G (p.Asp138Gly) c.752A>G (p.Asp251Gly) | |
1 | g.146018267T>G | CA342133024 | HJV | c.1091A>C (p.Asp364Ala) c.413A>C (p.Asp138Ala) c.752A>C (p.Asp251Ala) | |
1 | g.146018268C>A | CA342133032 | HJV | c.1090G>T (p.Asp364Tyr) c.412G>T (p.Asp138Tyr) c.751G>T (p.Asp251Tyr) | |
1 | g.146018268C>G | CA342133042 | HJV | c.1090G>C (p.Asp364His) c.412G>C (p.Asp138His) c.751G>C (p.Asp251His) | |
1 | g.146018268C>T | CA342133044 | HJV | c.1090G>A (p.Asp364Asn) c.412G>A (p.Asp138Asn) c.751G>A (p.Asp251Asn) | gnomAD v4 |
1 | g.146018269A>C | CA342133052 | HJV | c.1089T>G (p.Phe363Leu) c.411T>G (p.Phe137Leu) c.750T>G (p.Phe250Leu) | |
1 | g.146018269A>G | CA420250236 | HJV | c.1089T>C (p.Phe363=) c.411T>C (p.Phe137=) c.750T>C (p.Phe250=) | |
1 | g.146018269A>T | CA342133057 | HJV | c.1089T>A (p.Phe363Leu) c.411T>A (p.Phe137Leu) c.750T>A (p.Phe250Leu) | |
1 | g.146018270A>C | CA342133060 | HJV | c.1088T>G (p.Phe363Cys) c.410T>G (p.Phe137Cys) c.749T>G (p.Phe250Cys) | |
1 | g.146018270A>G | CA342133061 | HJV | c.1088T>C (p.Phe363Ser) c.410T>C (p.Phe137Ser) c.749T>C (p.Phe250Ser) | |
1 | g.146018270A>T | CA342133064 | HJV | c.1088T>A (p.Phe363Tyr) c.410T>A (p.Phe137Tyr) c.749T>A (p.Phe250Tyr) | |
1 | g.146018271A>C | CA342133072 | HJV | c.1087T>G (p.Phe363Val) c.409T>G (p.Phe137Val) c.748T>G (p.Phe250Val) | |
1 | g.146018271A>G | CA342133079 | HJV | c.1087T>C (p.Phe363Leu) c.409T>C (p.Phe137Leu) c.748T>C (p.Phe250Leu) | |
1 | g.146018271A>T | CA342133081 | HJV | c.1087T>A (p.Phe363Ile) c.409T>A (p.Phe137Ile) c.748T>A (p.Phe250Ile) | |
1 | g.146018272G>A | CA420250237 | HJV | c.1086C>T (p.Val362=) c.408C>T (p.Val136=) c.747C>T (p.Val249=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018272G>C | CA420250239 | HJV | c.1086C>G (p.Val362=) c.408C>G (p.Val136=) c.747C>G (p.Val249=) | |
1 | g.146018272G= | CA1198820901 | HJV | c.1086C= (p.Val362=) c.408C= (p.Val136=) c.747C= (p.Val249=) | |
1 | g.146018272G>T | CA420250238 | HJV | c.1086C>A (p.Val362=) c.408C>A (p.Val136=) c.747C>A (p.Val249=) | |
1 | g.146018273A>C | CA342133082 | HJV | c.1085T>G (p.Val362Gly) c.407T>G (p.Val136Gly) c.746T>G (p.Val249Gly) | |
1 | g.146018273A>G | CA342133084 | HJV | c.1085T>C (p.Val362Ala) c.407T>C (p.Val136Ala) c.746T>C (p.Val249Ala) | |
1 | g.146018273A>T | CA342133083 | HJV | c.1085T>A (p.Val362Asp) c.407T>A (p.Val136Asp) c.746T>A (p.Val249Asp) | |
1 | g.146018274C>A | CA342133085 | HJV | c.1084G>T (p.Val362Phe) c.406G>T (p.Val136Phe) c.745G>T (p.Val249Phe) | |
1 | g.146018274C= | CA1198820902 | HJV | c.1084G= (p.Val362=) c.406G= (p.Val136=) c.745G= (p.Val249=) | |
1 | g.146018274C>G | CA342133086 | HJV | c.1084G>C (p.Val362Leu) c.406G>C (p.Val136Leu) c.745G>C (p.Val249Leu) | |
1 | g.146018274C>T | CA342133087 | HJV | c.1084G>A (p.Val362Ile) c.406G>A (p.Val136Ile) c.745G>A (p.Val249Ile) | ClinVar dbSNP gnomAD v4 |
1 | g.146018275A>C | CA342133089 | HJV | c.1083T>G (p.Cys361Trp) c.405T>G (p.Cys135Trp) c.744T>G (p.Cys248Trp) | gnomAD v4 |
1 | g.146018275A>G | CA420250240 | HJV | c.1083T>C (p.Cys361=) c.405T>C (p.Cys135=) c.744T>C (p.Cys248=) | |
1 | g.146018275A>T | CA342133096 | HJV | c.1083T>A (p.Cys361Ter) c.405T>A (p.Cys135Ter) c.744T>A (p.Cys248Ter) | |
1 | g.146018276C>A | CA342133113 | HJV | c.1082G>T (p.Cys361Phe) c.404G>T (p.Cys135Phe) c.743G>T (p.Cys248Phe) | |
1 | g.146018276C>G | CA342133109 | HJV | c.1082G>C (p.Cys361Ser) c.404G>C (p.Cys135Ser) c.743G>C (p.Cys248Ser) | |
1 | g.146018276C>T | CA342133105 | HJV | c.1082G>A (p.Cys361Tyr) c.404G>A (p.Cys135Tyr) c.743G>A (p.Cys248Tyr) | |
1 | g.146018277A>C | CA342133114 | HJV | c.1081T>G (p.Cys361Gly) c.403T>G (p.Cys135Gly) c.742T>G (p.Cys248Gly) | |
1 | g.146018277A>G | CA342133116 | HJV | c.1081T>C (p.Cys361Arg) c.403T>C (p.Cys135Arg) c.742T>C (p.Cys248Arg) | gnomAD v4 |
1 | g.146018277A>T | CA342133118 | HJV | c.1081T>A (p.Cys361Ser) c.403T>A (p.Cys135Ser) c.742T>A (p.Cys248Ser) | |
1 | g.146018277_146018278delinsAG | CA1198820903 | HJV | c.1080_1081delinsCT (p.Ser360=) c.402_403delinsCT (p.Ser134=) c.741_742delinsCT (p.Ser247=) | |
1 | g.146018278G>A | CA420250241 | HJV | c.1080C>T (p.Ser360=) c.402C>T (p.Ser134=) c.741C>T (p.Ser247=) | |
1 | g.146018278G>C | CA420250242 | HJV | c.1080C>G (p.Ser360=) c.402C>G (p.Ser134=) c.741C>G (p.Ser247=) | |
1 | g.146018278G>T | CA420250243 | HJV | c.1080C>A (p.Ser360=) c.402C>A (p.Ser134=) c.741C>A (p.Ser247=) | |
1 | g.146018279del | CA526254236 | HJV | c.1080del (p.Cys361ValfsTer6) c.402del (p.Cys135ValfsTer6) c.741del (p.Cys248ValfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018279G>A | CA342133122 | HJV | c.1079C>T (p.Ser360Phe) c.401C>T (p.Ser134Phe) c.740C>T (p.Ser247Phe) | gnomAD v4 COSMIC |
1 | g.146018279G>C | CA342133125 | HJV | c.1079C>G (p.Ser360Cys) c.401C>G (p.Ser134Cys) c.740C>G (p.Ser247Cys) | |
1 | g.146018279G>T | CA342133127 | HJV | c.1079C>A (p.Ser360Tyr) c.401C>A (p.Ser134Tyr) c.740C>A (p.Ser247Tyr) | dbSNP |
1 | g.146018280A>C | CA342133136 | HJV | c.1078T>G (p.Ser360Ala) c.400T>G (p.Ser134Ala) c.739T>G (p.Ser247Ala) | |
1 | g.146018280A>G | CA342133134 | HJV | c.1078T>C (p.Ser360Pro) c.400T>C (p.Ser134Pro) c.739T>C (p.Ser247Pro) | |
1 | g.146018280A>T | CA342133135 | HJV | c.1078T>A (p.Ser360Thr) c.400T>A (p.Ser134Thr) c.739T>A (p.Ser247Thr) | |
1 | g.146018281A>C | CA342133137 | HJV | c.1077T>G (p.His359Gln) c.399T>G (p.His133Gln) c.738T>G (p.His246Gln) | |
1 | g.146018281A>G | CA420250244 | HJV | c.1077T>C (p.His359=) c.399T>C (p.His133=) c.738T>C (p.His246=) | |
1 | g.146018281A>T | CA342133139 | HJV | c.1077T>A (p.His359Gln) c.399T>A (p.His133Gln) c.738T>A (p.His246Gln) | |
1 | g.146018282T>A | CA342133151 | HJV | c.1076A>T (p.His359Leu) c.398A>T (p.His133Leu) c.737A>T (p.His246Leu) | |
1 | g.146018282T>C | CA342133152 | HJV | c.1076A>G (p.His359Arg) c.398A>G (p.His133Arg) c.737A>G (p.His246Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018282T>G | CA342133153 | HJV | c.1076A>C (p.His359Pro) c.398A>C (p.His133Pro) c.737A>C (p.His246Pro) | |
1 | g.146018282T= | CA1198820904 | HJV | c.1076A= (p.His359=) c.398A= (p.His133=) c.737A= (p.His246=) | |
1 | g.146018283G>A | CA342133154 | HJV | c.1075C>T (p.His359Tyr) c.397C>T (p.His133Tyr) c.736C>T (p.His246Tyr) | |
1 | g.146018283G>C | CA342133158 | HJV | c.1075C>G (p.His359Asp) c.397C>G (p.His133Asp) c.736C>G (p.His246Asp) | |
1 | g.146018283G>T | CA342133161 | HJV | c.1075C>A (p.His359Asn) c.397C>A (p.His133Asn) c.736C>A (p.His246Asn) | |
1 | g.146018284G>A | CA420250245 | HJV | c.1074C>T (p.Phe358=) c.396C>T (p.Phe132=) c.735C>T (p.Phe245=) | ClinVar dbSNP |
1 | g.146018284G>C | CA342133164 | HJV | c.1074C>G (p.Phe358Leu) c.396C>G (p.Phe132Leu) c.735C>G (p.Phe245Leu) | |
1 | g.146018284G>T | CA342133165 | HJV | c.1074C>A (p.Phe358Leu) c.396C>A (p.Phe132Leu) c.735C>A (p.Phe245Leu) | |
1 | g.146018285A>C | CA342133167 | HJV | c.1073T>G (p.Phe358Cys) c.395T>G (p.Phe132Cys) c.734T>G (p.Phe245Cys) | |
1 | g.146018285A>G | CA342133180 | HJV | c.1073T>C (p.Phe358Ser) c.395T>C (p.Phe132Ser) c.734T>C (p.Phe245Ser) | |
1 | g.146018285A>T | CA342133188 | HJV | c.1073T>A (p.Phe358Tyr) c.395T>A (p.Phe132Tyr) c.734T>A (p.Phe245Tyr) | |
1 | g.146018286A>C | CA342133192 | HJV | c.1072T>G (p.Phe358Val) c.394T>G (p.Phe132Val) c.733T>G (p.Phe245Val) | |
1 | g.146018286A>G | CA342133199 | HJV | c.1072T>C (p.Phe358Leu) c.394T>C (p.Phe132Leu) c.733T>C (p.Phe245Leu) | |
1 | g.146018286A>T | CA342133195 | HJV | c.1072T>A (p.Phe358Ile) c.394T>A (p.Phe132Ile) c.733T>A (p.Phe245Ile) | |
1 | g.146018287G>A | CA420250246 | HJV | c.1071C>T (p.Tyr357=) c.393C>T (p.Tyr131=) c.732C>T (p.Tyr244=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018287G>C | CA342133210 | HJV | c.1071C>G (p.Tyr357Ter) c.393C>G (p.Tyr131Ter) c.732C>G (p.Tyr244Ter) | |
1 | g.146018287G= | CA1198820905 | HJV | c.1071C= (p.Tyr357=) c.393C= (p.Tyr131=) c.732C= (p.Tyr244=) | |
1 | g.146018287G>T | CA342133218 | HJV | c.1071C>A (p.Tyr357Ter) c.393C>A (p.Tyr131Ter) c.732C>A (p.Tyr244Ter) | |
1 | g.146018288T>A | CA342133222 | HJV | c.1070A>T (p.Tyr357Phe) c.392A>T (p.Tyr131Phe) c.731A>T (p.Tyr244Phe) | |
1 | g.146018288T>C | CA342133224 | HJV | c.1070A>G (p.Tyr357Cys) c.392A>G (p.Tyr131Cys) c.731A>G (p.Tyr244Cys) | |
1 | g.146018288T>G | CA342133229 | HJV | c.1070A>C (p.Tyr357Ser) c.392A>C (p.Tyr131Ser) c.731A>C (p.Tyr244Ser) |