| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.146018289A>C | CA342133235 | HJV | c.1069T>G (p.Tyr357Asp) c.391T>G (p.Tyr131Asp) c.730T>G (p.Tyr244Asp) | |
| 1 | g.146018289A>G | CA342133237 | HJV | c.1069T>C (p.Tyr357His) c.391T>C (p.Tyr131His) c.730T>C (p.Tyr244His) | gnomAD v4 |
| 1 | g.146018289A>T | CA342133240 | HJV | c.1069T>A (p.Tyr357Asn) c.391T>A (p.Tyr131Asn) c.730T>A (p.Tyr244Asn) | |
| 1 | g.146018289_146018308dup | CA2647575248 | HJV | c.1050_1069dup (p.Tyr357CysfsTer17) c.372_391dup (p.Tyr131CysfsTer17) c.711_730dup (p.Tyr244CysfsTer17) | gnomAD v4 |
| 1 | g.146018290A= | CA1142275298 | HJV | c.1068T= (p.Ala356=) c.390T= (p.Ala130=) c.729T= (p.Ala243=) | |
| 1 | g.146018290A>C | CA342133243 | HJV | c.1068T>G (p.Ala356=) c.390T>G (p.Ala130=) c.729T>G (p.Ala243=) | dbSNP |
| 1 | g.146018290A>G | CA1053958 | HJV | c.1068T>C (p.Ala356=) c.390T>C (p.Ala130=) c.729T>C (p.Ala243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018290A>T | CA342133246 | HJV | c.1068T>A (p.Ala356=) c.390T>A (p.Ala130=) c.729T>A (p.Ala243=) | |
| 1 | g.146018291G>A | CA342133251 | HJV | c.1067C>T (p.Ala356Val) c.389C>T (p.Ala130Val) c.728C>T (p.Ala243Val) | |
| 1 | g.146018291G>C | CA342133254 | HJV | c.1067C>G (p.Ala356Gly) c.389C>G (p.Ala130Gly) c.728C>G (p.Ala243Gly) | |
| 1 | g.146018291G= | CA1198820906 | HJV | c.1067C= (p.Ala356=) c.389C= (p.Ala130=) c.728C= (p.Ala243=) | |
| 1 | g.146018291G>T | CA342133255 | HJV | c.1067C>A (p.Ala356Asp) c.389C>A (p.Ala130Asp) c.728C>A (p.Ala243Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018292C>A | CA342133257 | HJV | c.1066G>T (p.Ala356Ser) c.388G>T (p.Ala130Ser) c.727G>T (p.Ala243Ser) | |
| 1 | g.146018292C>G | CA342133260 | HJV | c.1066G>C (p.Ala356Pro) c.388G>C (p.Ala130Pro) c.727G>C (p.Ala243Pro) | |
| 1 | g.146018292C>T | CA342133259 | HJV | c.1066G>A (p.Ala356Thr) c.388G>A (p.Ala130Thr) c.727G>A (p.Ala243Thr) | dbSNP |
| 1 | g.146018293A= | CA1198820907 | HJV | c.1065T= (p.Asp355=) c.387T= (p.Asp129=) c.726T= (p.Asp242=) | |
| 1 | g.146018293A>C | CA342133262 | HJV | c.1065T>G (p.Asp355Glu) c.387T>G (p.Asp129Glu) c.726T>G (p.Asp242Glu) | |
| 1 | g.146018293A>G | CA420250247 | HJV | c.1065T>C (p.Asp355=) c.387T>C (p.Asp129=) c.726T>C (p.Asp242=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018293A>T | CA342133266 | HJV | c.1065T>A (p.Asp355Glu) c.387T>A (p.Asp129Glu) c.726T>A (p.Asp242Glu) | |
| 1 | g.146018294T>A | CA342133276 | HJV | c.1064A>T (p.Asp355Val) c.386A>T (p.Asp129Val) c.725A>T (p.Asp242Val) | dbSNP |
| 1 | g.146018294T>C | CA342133280 | HJV | c.1064A>G (p.Asp355Gly) c.386A>G (p.Asp129Gly) c.725A>G (p.Asp242Gly) | |
| 1 | g.146018294T>G | CA342133282 | HJV | c.1064A>C (p.Asp355Ala) c.386A>C (p.Asp129Ala) c.725A>C (p.Asp242Ala) | gnomAD v4 |
| 1 | g.146018294T= | CA1198820908 | HJV | c.1064A= (p.Asp355=) c.386A= (p.Asp129=) c.725A= (p.Asp242=) | |
| 1 | g.146018295C>A | CA1053957 | HJV | c.1063G>T (p.Asp355Tyr) c.385G>T (p.Asp129Tyr) c.724G>T (p.Asp242Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018295C= | CA1198820909 | HJV | c.1063G= (p.Asp355=) c.385G= (p.Asp129=) c.724G= (p.Asp242=) | |
| 1 | g.146018295C>G | CA29823257 | HJV | c.1063G>C (p.Asp355His) c.385G>C (p.Asp129His) c.724G>C (p.Asp242His) | |
| 1 | g.146018295C>T | CA29823248 | HJV | c.1063G>A (p.Asp355Asn) c.385G>A (p.Asp129Asn) c.724G>A (p.Asp242Asn) | dbSNP gnomAD v2 |
| 1 | g.146018296T>A | CA342133291 | HJV | c.1062A>T (p.Glu354Asp) c.384A>T (p.Glu128Asp) c.723A>T (p.Glu241Asp) | |
| 1 | g.146018296T>C | CA420250248 | HJV | c.1062A>G (p.Glu354=) c.384A>G (p.Glu128=) c.723A>G (p.Glu241=) | |
| 1 | g.146018296T>G | CA342133292 | HJV | c.1062A>C (p.Glu354Asp) c.384A>C (p.Glu128Asp) c.723A>C (p.Glu241Asp) | |
| 1 | g.146018297T>A | CA342133293 | HJV | c.1061A>T (p.Glu354Val) c.383A>T (p.Glu128Val) c.722A>T (p.Glu241Val) | |
| 1 | g.146018297T>C | CA342133300 | HJV | c.1061A>G (p.Glu354Gly) c.383A>G (p.Glu128Gly) c.722A>G (p.Glu241Gly) | |
| 1 | g.146018297T>G | CA342133295 | HJV | c.1061A>C (p.Glu354Ala) c.383A>C (p.Glu128Ala) c.722A>C (p.Glu241Ala) | |
| 1 | g.146018298C>A | CA342133303 | HJV | c.1060G>T (p.Glu354Ter) c.382G>T (p.Glu128Ter) c.721G>T (p.Glu241Ter) | |
| 1 | g.146018298C>G | CA342133311 | HJV | c.1060G>C (p.Glu354Gln) c.382G>C (p.Glu128Gln) c.721G>C (p.Glu241Gln) | |
| 1 | g.146018298C>T | CA342133309 | HJV | c.1060G>A (p.Glu354Lys) c.382G>A (p.Glu128Lys) c.721G>A (p.Glu241Lys) | |
| 1 | g.146018299C>A | CA420250251 | HJV | c.1059G>T (p.Val353=) c.381G>T (p.Val127=) c.720G>T (p.Val240=) | |
| 1 | g.146018299C>G | CA420250252 | HJV | c.1059G>C (p.Val353=) c.381G>C (p.Val127=) c.720G>C (p.Val240=) | |
| 1 | g.146018299C>T | CA420250250 | HJV | c.1059G>A (p.Val353=) c.381G>A (p.Val127=) c.720G>A (p.Val240=) | |
| 1 | g.146018300A>C | CA342133312 | HJV | c.1058T>G (p.Val353Gly) c.380T>G (p.Val127Gly) c.719T>G (p.Val240Gly) | |
| 1 | g.146018300A>G | CA342133314 | HJV | c.1058T>C (p.Val353Ala) c.380T>C (p.Val127Ala) c.719T>C (p.Val240Ala) | |
| 1 | g.146018300A>T | CA342133313 | HJV | c.1058T>A (p.Val353Glu) c.380T>A (p.Val127Glu) c.719T>A (p.Val240Glu) | |
| 1 | g.146018301C>A | CA342133320 | HJV | c.1057G>T (p.Val353Leu) c.379G>T (p.Val127Leu) c.718G>T (p.Val240Leu) | |
| 1 | g.146018301C>G | CA342133325 | HJV | c.1057G>C (p.Val353Leu) c.379G>C (p.Val127Leu) c.718G>C (p.Val240Leu) | |
| 1 | g.146018301C>T | CA342133328 | HJV | c.1057G>A (p.Val353Met) c.379G>A (p.Val127Met) c.718G>A (p.Val240Met) | |
| 1 | g.146018302T>A | CA420250256 | HJV | c.1056A>T (p.Pro352=) c.378A>T (p.Pro126=) c.717A>T (p.Pro239=) | |
| 1 | g.146018302T>C | CA420250255 | HJV | c.1056A>G (p.Pro352=) c.378A>G (p.Pro126=) c.717A>G (p.Pro239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018302T>G | CA420250254 | HJV | c.1056A>C (p.Pro352=) c.378A>C (p.Pro126=) c.717A>C (p.Pro239=) | |
| 1 | g.146018302T= | CA1198820910 | HJV | c.1056A= (p.Pro352=) c.378A= (p.Pro126=) c.717A= (p.Pro239=) | |
| 1 | g.146018303G>A | CA1053956 | HJV | c.1055C>T (p.Pro352Leu) c.377C>T (p.Pro126Leu) c.716C>T (p.Pro239Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018303G>C | CA29823263 | HJV | c.1055C>G (p.Pro352Arg) c.377C>G (p.Pro126Arg) c.716C>G (p.Pro239Arg) | |
| 1 | g.146018303G= | CA1143670587 | HJV | c.1055C= (p.Pro352=) c.377C= (p.Pro126=) c.716C= (p.Pro239=) | |
| 1 | g.146018303G>T | CA29823270 | HJV | c.1055C>A (p.Pro352Gln) c.377C>A (p.Pro126Gln) c.716C>A (p.Pro239Gln) | |
| 1 | g.146018304G>A | CA342133346 | HJV | c.1054C>T (p.Pro352Ser) c.376C>T (p.Pro126Ser) c.715C>T (p.Pro239Ser) | |
| 1 | g.146018304G>C | CA342133348 | HJV | c.1054C>G (p.Pro352Ala) c.376C>G (p.Pro126Ala) c.715C>G (p.Pro239Ala) | |
| 1 | g.146018304G>T | CA342133351 | HJV | c.1054C>A (p.Pro352Thr) c.376C>A (p.Pro126Thr) c.715C>A (p.Pro239Thr) | |
| 1 | g.146018305A>C | CA420603226 | HJV | c.1053T>G (p.Leu351=) c.375T>G (p.Leu125=) c.714T>G (p.Leu238=) | |
| 1 | g.146018305A>G | CA420603225 | HJV | c.1053T>C (p.Leu351=) c.375T>C (p.Leu125=) c.714T>C (p.Leu238=) | gnomAD v4 |
| 1 | g.146018305A>T | CA420603227 | HJV | c.1053T>A (p.Leu351=) c.375T>A (p.Leu125=) c.714T>A (p.Leu238=) | |
| 1 | g.146018306A>C | CA342134070 | HJV | c.1052T>G (p.Leu351Arg) c.374T>G (p.Leu125Arg) c.713T>G (p.Leu238Arg) | |
| 1 | g.146018306A>G | CA342134064 | HJV | c.1052T>C (p.Leu351Pro) c.374T>C (p.Leu125Pro) c.713T>C (p.Leu238Pro) | |
| 1 | g.146018306A>T | CA342134062 | HJV | c.1052T>A (p.Leu351His) c.374T>A (p.Leu125His) c.713T>A (p.Leu238His) | |
| 1 | g.146018307G>A | CA1053955 | HJV | c.1051C>T (p.Leu351Phe) c.373C>T (p.Leu125Phe) c.712C>T (p.Leu238Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018307G>C | CA29823279 | HJV | c.1051C>G (p.Leu351Val) c.373C>G (p.Leu125Val) c.712C>G (p.Leu238Val) | |
| 1 | g.146018307G= | CA1148206201 | HJV | c.1051C= (p.Leu351=) c.373C= (p.Leu125=) c.712C= (p.Leu238=) | |
| 1 | g.146018307G>T | CA29823286 | HJV | c.1051C>A (p.Leu351Ile) c.373C>A (p.Leu125Ile) c.712C>A (p.Leu238Ile) | |
| 1 | g.146018308C>A | CA420603229 | HJV | c.1050G>T (p.Gly350=) c.372G>T (p.Gly124=) c.711G>T (p.Gly237=) | |
| 1 | g.146018308C>G | CA420603228 | HJV | c.1050G>C (p.Gly350=) c.372G>C (p.Gly124=) c.711G>C (p.Gly237=) | |
| 1 | g.146018308C>T | CA420603231 | HJV | c.1050G>A (p.Gly350=) c.372G>A (p.Gly124=) c.711G>A (p.Gly237=) | |
| 1 | g.146018309C>A | CA342134083 | HJV | c.1049G>T (p.Gly350Val) c.371G>T (p.Gly124Val) c.710G>T (p.Gly237Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018309C= | CA1198820911 | HJV | c.1049G= (p.Gly350=) c.371G= (p.Gly124=) c.710G= (p.Gly237=) | |
| 1 | g.146018309C>G | CA342134088 | HJV | c.1049G>C (p.Gly350Ala) c.371G>C (p.Gly124Ala) c.710G>C (p.Gly237Ala) | |
| 1 | g.146018309C>T | CA342134089 | HJV | c.1049G>A (p.Gly350Glu) c.371G>A (p.Gly124Glu) c.710G>A (p.Gly237Glu) | gnomAD v4 |
| 1 | g.146018310C>A | CA342134094 | HJV | c.1048G>T (p.Gly350Trp) c.370G>T (p.Gly124Trp) c.709G>T (p.Gly237Trp) | |
| 1 | g.146018310C>G | CA342134095 | HJV | c.1048G>C (p.Gly350Arg) c.370G>C (p.Gly124Arg) c.709G>C (p.Gly237Arg) | |
| 1 | g.146018310C>T | CA342134096 | HJV | c.1048G>A (p.Gly350Arg) c.370G>A (p.Gly124Arg) c.709G>A (p.Gly237Arg) | |
| 1 | g.146018311T>A | CA342134098 | HJV | c.1047A>T (p.Glu349Asp) c.369A>T (p.Glu123Asp) c.708A>T (p.Glu236Asp) | |
| 1 | g.146018311T>C | CA420603234 | HJV | c.1047A>G (p.Glu349=) c.369A>G (p.Glu123=) c.708A>G (p.Glu236=) | ClinVar dbSNP |
| 1 | g.146018311T>G | CA342134106 | HJV | c.1047A>C (p.Glu349Asp) c.369A>C (p.Glu123Asp) c.708A>C (p.Glu236Asp) | |
| 1 | g.146018312T>A | CA342134131 | HJV | c.1046A>T (p.Glu349Val) c.368A>T (p.Glu123Val) c.707A>T (p.Glu236Val) | |
| 1 | g.146018312T>C | CA342134136 | HJV | c.1046A>G (p.Glu349Gly) c.368A>G (p.Glu123Gly) c.707A>G (p.Glu236Gly) | |
| 1 | g.146018312T>G | CA342134113 | HJV | c.1046A>C (p.Glu349Ala) c.368A>C (p.Glu123Ala) c.707A>C (p.Glu236Ala) | |
| 1 | g.146018313C>A | CA342134143 | HJV | c.1045G>T (p.Glu349Ter) c.367G>T (p.Glu123Ter) c.706G>T (p.Glu236Ter) | |
| 1 | g.146018313C>G | CA342134150 | HJV | c.1045G>C (p.Glu349Gln) c.367G>C (p.Glu123Gln) c.706G>C (p.Glu236Gln) | |
| 1 | g.146018313C>T | CA342134154 | HJV | c.1045G>A (p.Glu349Lys) c.367G>A (p.Glu123Lys) c.706G>A (p.Glu236Lys) | COSMIC |
| 1 | g.146018314C>A | CA342134169 | HJV | c.1044G>T (p.Lys348Asn) c.366G>T (p.Lys122Asn) c.705G>T (p.Lys235Asn) | |
| 1 | g.146018314C>G | CA342134175 | HJV | c.1044G>C (p.Lys348Asn) c.366G>C (p.Lys122Asn) c.705G>C (p.Lys235Asn) | |
| 1 | g.146018314C>T | CA420603238 | HJV | c.1044G>A (p.Lys348=) c.366G>A (p.Lys122=) c.705G>A (p.Lys235=) | COSMIC |
| 1 | g.146018315T>A | CA342134196 | HJV | c.1043A>T (p.Lys348Met) c.365A>T (p.Lys122Met) c.704A>T (p.Lys235Met) | |
| 1 | g.146018315T>C | CA342134179 | HJV | c.1043A>G (p.Lys348Arg) c.365A>G (p.Lys122Arg) c.704A>G (p.Lys235Arg) | |
| 1 | g.146018315T>G | CA342134183 | HJV | c.1043A>C (p.Lys348Thr) c.365A>C (p.Lys122Thr) c.704A>C (p.Lys235Thr) | |
| 1 | g.146018316T>A | CA342134208 | HJV | c.1042A>T (p.Lys348Ter) c.364A>T (p.Lys122Ter) c.703A>T (p.Lys235Ter) | |
| 1 | g.146018316T>C | CA342134219 | HJV | c.1042A>G (p.Lys348Glu) c.364A>G (p.Lys122Glu) c.703A>G (p.Lys235Glu) | |
| 1 | g.146018316T>G | CA342134224 | HJV | c.1042A>C (p.Lys348Gln) c.364A>C (p.Lys122Gln) c.703A>C (p.Lys235Gln) | |
| 1 | g.146018317G>A | CA420603242 | HJV | c.1041C>T (p.Cys347=) c.363C>T (p.Cys121=) c.702C>T (p.Cys234=) | |
| 1 | g.146018317G>C | CA342134234 | HJV | c.1041C>G (p.Cys347Trp) c.363C>G (p.Cys121Trp) c.702C>G (p.Cys234Trp) | |
| 1 | g.146018317G>T | CA342134255 | HJV | c.1041C>A (p.Cys347Ter) c.363C>A (p.Cys121Ter) c.702C>A (p.Cys234Ter) | |
| 1 | g.146018318C>A | CA342134269 | HJV | c.1040G>T (p.Cys347Phe) c.362G>T (p.Cys121Phe) c.701G>T (p.Cys234Phe) | |
| 1 | g.146018318C>G | CA342134294 | HJV | c.1040G>C (p.Cys347Ser) c.362G>C (p.Cys121Ser) c.701G>C (p.Cys234Ser) | |
| 1 | g.146018318C>T | CA342134285 | HJV | c.1040G>A (p.Cys347Tyr) c.362G>A (p.Cys121Tyr) c.701G>A (p.Cys234Tyr) | |
| 1 | g.146018319A>C | CA342134306 | HJV | c.1039T>G (p.Cys347Gly) c.361T>G (p.Cys121Gly) c.700T>G (p.Cys234Gly) | |
| 1 | g.146018319A>G | CA342134311 | HJV | c.1039T>C (p.Cys347Arg) c.361T>C (p.Cys121Arg) c.700T>C (p.Cys234Arg) | |
| 1 | g.146018319A>T | CA342134326 | HJV | c.1039T>A (p.Cys347Ser) c.361T>A (p.Cys121Ser) c.700T>A (p.Cys234Ser) | |
| 1 | g.146018320C>A | CA420603245 | HJV | c.1038G>T (p.Leu346=) c.360G>T (p.Leu120=) c.699G>T (p.Leu233=) | |
| 1 | g.146018320C>G | CA420603246 | HJV | c.1038G>C (p.Leu346=) c.360G>C (p.Leu120=) c.699G>C (p.Leu233=) | |
| 1 | g.146018320C>T | CA420603247 | HJV | c.1038G>A (p.Leu346=) c.360G>A (p.Leu120=) c.699G>A (p.Leu233=) | gnomAD v4 |
| 1 | g.146018321A>C | CA342134328 | HJV | c.1037T>G (p.Leu346Arg) c.359T>G (p.Leu120Arg) c.698T>G (p.Leu233Arg) | |
| 1 | g.146018321A>G | CA342134329 | HJV | c.1037T>C (p.Leu346Pro) c.359T>C (p.Leu120Pro) c.698T>C (p.Leu233Pro) | |
| 1 | g.146018321A>T | CA342134330 | HJV | c.1037T>A (p.Leu346Gln) c.359T>A (p.Leu120Gln) c.698T>A (p.Leu233Gln) | |
| 1 | g.146018322G>A | CA1053954 | HJV | c.1036C>T (p.Leu346=) c.358C>T (p.Leu120=) c.697C>T (p.Leu233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018322G>C | CA29823289 | HJV | c.1036C>G (p.Leu346Val) c.358C>G (p.Leu120Val) c.697C>G (p.Leu233Val) | |
| 1 | g.146018322G= | CA1198820912 | HJV | c.1036C= (p.Leu346=) c.358C= (p.Leu120=) c.697C= (p.Leu233=) | |
| 1 | g.146018322G>T | CA29823290 | HJV | c.1036C>A (p.Leu346Met) c.358C>A (p.Leu120Met) c.697C>A (p.Leu233Met) | |
| 1 | g.146018323C>A | CA420603253 | HJV | c.1035G>T (p.Arg345=) c.357G>T (p.Arg119=) c.696G>T (p.Arg232=) | |
| 1 | g.146018323C>G | CA420603252 | HJV | c.1035G>C (p.Arg345=) c.357G>C (p.Arg119=) c.696G>C (p.Arg232=) | |
| 1 | g.146018323C>T | CA420603254 | HJV | c.1035G>A (p.Arg345=) c.357G>A (p.Arg119=) c.696G>A (p.Arg232=) | |
| 1 | g.146018324C>A | CA342134348 | HJV | c.1034G>T (p.Arg345Leu) c.356G>T (p.Arg119Leu) c.695G>T (p.Arg232Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018324C= | CA1198820913 | HJV | c.1034G= (p.Arg345=) c.356G= (p.Arg119=) c.695G= (p.Arg232=) | |
| 1 | g.146018324C>G | CA342134362 | HJV | c.1034G>C (p.Arg345Pro) c.356G>C (p.Arg119Pro) c.695G>C (p.Arg232Pro) | |
| 1 | g.146018324C>T | CA1053953 | HJV | c.1034G>A (p.Arg345Gln) c.356G>A (p.Arg119Gln) c.695G>A (p.Arg232Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018325G>A | CA1053952 | HJV | c.1033C>T (p.Arg345Trp) c.355C>T (p.Arg119Trp) c.694C>T (p.Arg232Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018325G>C | CA29823291 | HJV | c.1033C>G (p.Arg345Gly) c.355C>G (p.Arg119Gly) c.694C>G (p.Arg232Gly) | |
| 1 | g.146018325G= | CA1198820914 | HJV | c.1033C= (p.Arg345=) c.355C= (p.Arg119=) c.694C= (p.Arg232=) | |
| 1 | g.146018325G>T | CA29823297 | HJV | c.1033C>A (p.Arg345=) c.355C>A (p.Arg119=) c.694C>A (p.Arg232=) | |
| 1 | g.146018326T>A | CA342134372 | HJV | c.1032A>T (p.Arg344Ser) c.354A>T (p.Arg118Ser) c.693A>T (p.Arg231Ser) | |
| 1 | g.146018326T>C | CA420603255 | HJV | c.1032A>G (p.Arg344=) c.354A>G (p.Arg118=) c.693A>G (p.Arg231=) | gnomAD v4 |
| 1 | g.146018326T>G | CA342134381 | HJV | c.1032A>C (p.Arg344Ser) c.354A>C (p.Arg118Ser) c.693A>C (p.Arg231Ser) | |
| 1 | g.146018327C>A | CA29823321 | HJV | c.1031G>T (p.Arg344Ile) c.353G>T (p.Arg118Ile) c.692G>T (p.Arg231Ile) | |
| 1 | g.146018327C= | CA1198820915 | HJV | c.1031G= (p.Arg344=) c.353G= (p.Arg118=) c.692G= (p.Arg231=) | |
| 1 | g.146018327C>G | CA29823328 | HJV | c.1031G>C (p.Arg344Thr) c.353G>C (p.Arg118Thr) c.692G>C (p.Arg231Thr) | |
| 1 | g.146018327C>T | CA1053951 | HJV | c.1031G>A (p.Arg344Lys) c.353G>A (p.Arg118Lys) c.692G>A (p.Arg231Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018328T>A | CA342134404 | HJV | c.1030A>T (p.Arg344Ter) c.352A>T (p.Arg118Ter) c.691A>T (p.Arg231Ter) | |
| 1 | g.146018328T>C | CA342134406 | HJV | c.1030A>G (p.Arg344Gly) c.352A>G (p.Arg118Gly) c.691A>G (p.Arg231Gly) | |
| 1 | g.146018328T>G | CA420603258 | HJV | c.1030A>C (p.Arg344=) c.352A>C (p.Arg118=) c.691A>C (p.Arg231=) | |
| 1 | g.146018329G>A | CA420603261 | HJV | c.1029C>T (p.Ala343=) c.351C>T (p.Ala117=) c.690C>T (p.Ala230=) | ClinVar |
| 1 | g.146018329G>C | CA420603260 | HJV | c.1029C>G (p.Ala343=) c.351C>G (p.Ala117=) c.690C>G (p.Ala230=) | |
| 1 | g.146018329G>T | CA420603259 | HJV | c.1029C>A (p.Ala343=) c.351C>A (p.Ala117=) c.690C>A (p.Ala230=) | |
| 1 | g.146018330G>A | CA342134407 | HJV | c.1028C>T (p.Ala343Val) c.350C>T (p.Ala117Val) c.689C>T (p.Ala230Val) | COSMIC |
| 1 | g.146018330G>C | CA342134410 | HJV | c.1028C>G (p.Ala343Gly) c.350C>G (p.Ala117Gly) c.689C>G (p.Ala230Gly) | |
| 1 | g.146018330G>T | CA342134415 | HJV | c.1028C>A (p.Ala343Asp) c.350C>A (p.Ala117Asp) c.689C>A (p.Ala230Asp) | |
| 1 | g.146018331C>A | CA342134422 | HJV | c.1027G>T (p.Ala343Ser) c.349G>T (p.Ala117Ser) c.688G>T (p.Ala230Ser) | |
| 1 | g.146018331C>G | CA342134430 | HJV | c.1027G>C (p.Ala343Pro) c.349G>C (p.Ala117Pro) c.688G>C (p.Ala230Pro) | |
| 1 | g.146018331C>T | CA342134433 | HJV | c.1027G>A (p.Ala343Thr) c.349G>A (p.Ala117Thr) c.688G>A (p.Ala230Thr) | |
| 1 | g.146018331_146018332delinsCA | CA1198820916 | HJV | c.1026_1027delinsTG (p.Thr342=) c.348_349delinsTG (p.Thr116=) c.687_688delinsTG (p.Thr229=) | |
| 1 | g.146018332del | CA916295389 | HJV | c.1026del (p.Ala343ProfsTer24) c.348del (p.Ala117ProfsTer24) c.687del (p.Ala230ProfsTer24) | dbSNP gnomAD v4 |
| 1 | g.146018332A>C | CA420603267 | HJV | c.1026T>G (p.Thr342=) c.348T>G (p.Thr116=) c.687T>G (p.Thr229=) | |
| 1 | g.146018332A>G | CA420603268 | HJV | c.1026T>C (p.Thr342=) c.348T>C (p.Thr116=) c.687T>C (p.Thr229=) | |
| 1 | g.146018332A>T | CA420603269 | HJV | c.1026T>A (p.Thr342=) c.348T>A (p.Thr116=) c.687T>A (p.Thr229=) | |
| 1 | g.146018333G>A | CA342134456 | HJV | c.1025C>T (p.Thr342Ile) c.347C>T (p.Thr116Ile) c.686C>T (p.Thr229Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018333G>C | CA342134455 | HJV | c.1025C>G (p.Thr342Ser) c.347C>G (p.Thr116Ser) c.686C>G (p.Thr229Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018333G= | CA1198820917 | HJV | c.1025C= (p.Thr342=) c.347C= (p.Thr116=) c.686C= (p.Thr229=) | |
| 1 | g.146018333G>T | CA342134447 | HJV | c.1025C>A (p.Thr342Asn) c.347C>A (p.Thr116Asn) c.686C>A (p.Thr229Asn) | |
| 1 | g.146018334T>A | CA29823334 | HJV | c.1024A>T (p.Thr342Ser) c.346A>T (p.Thr116Ser) c.685A>T (p.Thr229Ser) | |
| 1 | g.146018334T>C | CA1053950 | HJV | c.1024A>G (p.Thr342Ala) c.346A>G (p.Thr116Ala) c.685A>G (p.Thr229Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018334T>G | CA29823337 | HJV | c.1024A>C (p.Thr342Pro) c.346A>C (p.Thr116Pro) c.685A>C (p.Thr229Pro) | |
| 1 | g.146018334T= | CA1198820918 | HJV | c.1024A= (p.Thr342=) c.346A= (p.Thr116=) c.685A= (p.Thr229=) | |
| 1 | g.146018335A>C | CA342134464 | HJV | c.1023T>G (p.Asp341Glu) c.345T>G (p.Asp115Glu) c.684T>G (p.Asp228Glu) | |
| 1 | g.146018335A>G | CA420603276 | HJV | c.1023T>C (p.Asp341=) c.345T>C (p.Asp115=) c.684T>C (p.Asp228=) | ClinVar dbSNP |
| 1 | g.146018335A>T | CA342134469 | HJV | c.1023T>A (p.Asp341Glu) c.345T>A (p.Asp115Glu) c.684T>A (p.Asp228Glu) | |
| 1 | g.146018336T>A | CA342134488 | HJV | c.1022A>T (p.Asp341Val) c.344A>T (p.Asp115Val) c.683A>T (p.Asp228Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018336T>C | CA342134489 | HJV | c.1022A>G (p.Asp341Gly) c.344A>G (p.Asp115Gly) c.683A>G (p.Asp228Gly) | |
| 1 | g.146018336T>G | CA342134491 | HJV | c.1022A>C (p.Asp341Ala) c.344A>C (p.Asp115Ala) c.683A>C (p.Asp228Ala) | |
| 1 | g.146018336T= | CA1198820919 | HJV | c.1022A= (p.Asp341=) c.344A= (p.Asp115=) c.683A= (p.Asp228=) | |
| 1 | g.146018337C>A | CA342134494 | HJV | c.1021G>T (p.Asp341Tyr) c.343G>T (p.Asp115Tyr) c.682G>T (p.Asp228Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018337C= | CA1198820920 | HJV | c.1021G= (p.Asp341=) c.343G= (p.Asp115=) c.682G= (p.Asp228=) | |
| 1 | g.146018337C>G | CA342134495 | HJV | c.1021G>C (p.Asp341His) c.343G>C (p.Asp115His) c.682G>C (p.Asp228His) | |
| 1 | g.146018337C>T | CA342134501 | HJV | c.1021G>A (p.Asp341Asn) c.343G>A (p.Asp115Asn) c.682G>A (p.Asp228Asn) | |
| 1 | g.146018338A= | CA1198820921 | HJV | c.1020T= (p.Ile340=) c.342T= (p.Ile114=) c.681T= (p.Ile227=) | |
| 1 | g.146018338A>C | CA29823355 | HJV | c.1020T>G (p.Ile340Met) c.342T>G (p.Ile114Met) c.681T>G (p.Ile227Met) | |
| 1 | g.146018338A>G | CA1053949 | HJV | c.1020T>C (p.Ile340=) c.342T>C (p.Ile114=) c.681T>C (p.Ile227=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018338A>T | CA29823374 | HJV | c.1020T>A (p.Ile340=) c.342T>A (p.Ile114=) c.681T>A (p.Ile227=) | |
| 1 | g.146018339A= | CA1198820922 | HJV | c.1019T= (p.Ile340=) c.341T= (p.Ile114=) c.680T= (p.Ile227=) | |
| 1 | g.146018339A>C | CA342134512 | HJV | c.1019T>G (p.Ile340Ser) c.341T>G (p.Ile114Ser) c.680T>G (p.Ile227Ser) | |
| 1 | g.146018339A>G | CA342134517 | HJV | c.1019T>C (p.Ile340Thr) c.341T>C (p.Ile114Thr) c.680T>C (p.Ile227Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018339A>T | CA342134509 | HJV | c.1019T>A (p.Ile340Asn) c.341T>A (p.Ile114Asn) c.680T>A (p.Ile227Asn) | |
| 1 | g.146018340T>A | CA342134518 | HJV | c.1018A>T (p.Ile340Phe) c.340A>T (p.Ile114Phe) c.679A>T (p.Ile227Phe) | |
| 1 | g.146018340T>C | CA342134519 | HJV | c.1018A>G (p.Ile340Val) c.340A>G (p.Ile114Val) c.679A>G (p.Ile227Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018340T>G | CA342134520 | HJV | c.1018A>C (p.Ile340Leu) c.340A>C (p.Ile114Leu) c.679A>C (p.Ile227Leu) | |
| 1 | g.146018340T= | CA1198820923 | HJV | c.1018A= (p.Ile340=) c.340A= (p.Ile114=) c.679A= (p.Ile227=) | |
| 1 | g.146018341G>A | CA1053948 | HJV | c.1017C>T (p.Thr339=) c.339C>T (p.Thr113=) c.678C>T (p.Thr226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018341G>C | CA29823381 | HJV | c.1017C>G (p.Thr339=) c.339C>G (p.Thr113=) c.678C>G (p.Thr226=) | |
| 1 | g.146018341G= | CA1198820924 | HJV | c.1017C= (p.Thr339=) c.339C= (p.Thr113=) c.678C= (p.Thr226=) | |
| 1 | g.146018341G>T | CA29823398 | HJV | c.1017C>A (p.Thr339=) c.339C>A (p.Thr113=) c.678C>A (p.Thr226=) | |
| 1 | g.146018342G>A | CA29823411 | HJV | c.1016C>T (p.Thr339Ile) c.338C>T (p.Thr113Ile) c.677C>T (p.Thr226Ile) | |
| 1 | g.146018342G>C | CA29823415 | HJV | c.1016C>G (p.Thr339Ser) c.338C>G (p.Thr113Ser) c.677C>G (p.Thr226Ser) | |
| 1 | g.146018342G= | CA1198820925 | HJV | c.1016C= (p.Thr339=) c.338C= (p.Thr113=) c.677C= (p.Thr226=) | |
| 1 | g.146018342G>T | CA1053947 | HJV | c.1016C>A (p.Thr339Asn) c.338C>A (p.Thr113Asn) c.677C>A (p.Thr226Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018343T>A | CA342134545 | HJV | c.1015A>T (p.Thr339Ser) c.337A>T (p.Thr113Ser) c.676A>T (p.Thr226Ser) | |
| 1 | g.146018343T>C | CA342134559 | HJV | c.1015A>G (p.Thr339Ala) c.337A>G (p.Thr113Ala) c.676A>G (p.Thr226Ala) | |
| 1 | g.146018343T>G | CA342134572 | HJV | c.1015A>C (p.Thr339Pro) c.337A>C (p.Thr113Pro) c.676A>C (p.Thr226Pro) | |
| 1 | g.146018344T>A | CA420603278 | HJV | c.1014A>T (p.Ile338=) c.336A>T (p.Ile112=) c.675A>T (p.Ile225=) | |
| 1 | g.146018344T>C | CA342134576 | HJV | c.1014A>G (p.Ile338Met) c.336A>G (p.Ile112Met) c.675A>G (p.Ile225Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018344T>G | CA420603279 | HJV | c.1014A>C (p.Ile338=) c.336A>C (p.Ile112=) c.675A>C (p.Ile225=) | |
| 1 | g.146018344T= | CA1198820926 | HJV | c.1014A= (p.Ile338=) c.336A= (p.Ile112=) c.675A= (p.Ile225=) | |
| 1 | g.146018345A>C | CA342134582 | HJV | c.1013T>G (p.Ile338Arg) c.335T>G (p.Ile112Arg) c.674T>G (p.Ile225Arg) | |
| 1 | g.146018345A>G | CA342134577 | HJV | c.1013T>C (p.Ile338Thr) c.335T>C (p.Ile112Thr) c.674T>C (p.Ile225Thr) | |
| 1 | g.146018345A>T | CA342134578 | HJV | c.1013T>A (p.Ile338Lys) c.335T>A (p.Ile112Lys) c.674T>A (p.Ile225Lys) | |
| 1 | g.146018346T>A | CA29823433 | HJV | c.1012A>T (p.Ile338Leu) c.334A>T (p.Ile112Leu) c.673A>T (p.Ile225Leu) | |
| 1 | g.146018346T>C | CA1053946 | HJV | c.1012A>G (p.Ile338Val) c.334A>G (p.Ile112Val) c.673A>G (p.Ile225Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018346T>G | CA29823438 | HJV | c.1012A>C (p.Ile338Leu) c.334A>C (p.Ile112Leu) c.673A>C (p.Ile225Leu) | |
| 1 | g.146018346T= | CA1198820927 | HJV | c.1012A= (p.Ile338=) c.334A= (p.Ile112=) c.673A= (p.Ile225=) | |
| 1 | g.146018347A= | CA1198820928 | HJV | c.1011T= (p.Ala337=) c.333T= (p.Ala111=) c.672T= (p.Ala224=) | |
| 1 | g.146018347A>C | CA420603287 | HJV | c.1011T>G (p.Ala337=) c.333T>G (p.Ala111=) c.672T>G (p.Ala224=) | |
| 1 | g.146018347A>G | CA420603283 | HJV | c.1011T>C (p.Ala337=) c.333T>C (p.Ala111=) c.672T>C (p.Ala224=) | |
| 1 | g.146018347A>T | CA420603285 | HJV | c.1011T>A (p.Ala337=) c.333T>A (p.Ala111=) c.672T>A (p.Ala224=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018348G>A | CA342134587 | HJV | c.1010C>T (p.Ala337Val) c.332C>T (p.Ala111Val) c.671C>T (p.Ala224Val) | dbSNP |
| 1 | g.146018348G>C | CA342134594 | HJV | c.1010C>G (p.Ala337Gly) c.332C>G (p.Ala111Gly) c.671C>G (p.Ala224Gly) | |
| 1 | g.146018348G= | CA1198820929 | HJV | c.1010C= (p.Ala337=) c.332C= (p.Ala111=) c.671C= (p.Ala224=) | |
| 1 | g.146018348G>T | CA342134611 | HJV | c.1010C>A (p.Ala337Asp) c.332C>A (p.Ala111Asp) c.671C>A (p.Ala224Asp) | |
| 1 | g.146018349C>A | CA342134613 | HJV | c.1009G>T (p.Ala337Ser) c.331G>T (p.Ala111Ser) c.670G>T (p.Ala224Ser) | gnomAD v4 |
| 1 | g.146018349C>G | CA342134616 | HJV | c.1009G>C (p.Ala337Pro) c.331G>C (p.Ala111Pro) c.670G>C (p.Ala224Pro) | |
| 1 | g.146018349C>T | CA342134631 | HJV | c.1009G>A (p.Ala337Thr) c.331G>A (p.Ala111Thr) c.670G>A (p.Ala224Thr) | |
| 1 | g.146018350T>A | CA420603295 | HJV | c.1008A>T (p.Gly336=) c.330A>T (p.Gly110=) c.669A>T (p.Gly223=) | |
| 1 | g.146018350T>C | CA420603293 | HJV | c.1008A>G (p.Gly336=) c.330A>G (p.Gly110=) c.669A>G (p.Gly223=) | |
| 1 | g.146018350T>G | CA420603291 | HJV | c.1008A>C (p.Gly336=) c.330A>C (p.Gly110=) c.669A>C (p.Gly223=) | |
| 1 | g.146018350_146018351delinsTC | CA1198820930 | HJV | c.1007_1008delinsGA (p.Gly336=) c.329_330delinsGA (p.Gly110=) c.668_669delinsGA (p.Gly223=) | |
| 1 | g.146018351C>A | CA342134635 | HJV | c.1007G>T (p.Gly336Val) c.329G>T (p.Gly110Val) c.668G>T (p.Gly223Val) | gnomAD v4 |
| 1 | g.146018351C>G | CA342134637 | HJV | c.1007G>C (p.Gly336Ala) c.329G>C (p.Gly110Ala) c.668G>C (p.Gly223Ala) | |
| 1 | g.146018351C>T | CA342134639 | HJV | c.1007G>A (p.Gly336Glu) c.329G>A (p.Gly110Glu) c.668G>A (p.Gly223Glu) | |
| 1 | g.146018354del | CA888578969 | HJV | c.1007del (p.Gly336GlufsTer3) c.329del (p.Gly110GlufsTer3) c.668del (p.Gly223GlufsTer3) | dbSNP |
| 1 | g.146018352C>A | CA342134645 | HJV | c.1006G>T (p.Gly336Ter) c.328G>T (p.Gly110Ter) c.667G>T (p.Gly223Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.146018352C= | CA1198820931 | HJV | c.1006G= (p.Gly336=) c.328G= (p.Gly110=) c.667G= (p.Gly223=) | |
| 1 | g.146018352C>G | CA342134649 | HJV | c.1006G>C (p.Gly336Arg) c.328G>C (p.Gly110Arg) c.667G>C (p.Gly223Arg) | |
| 1 | g.146018352C>T | CA342134641 | HJV | c.1006G>A (p.Gly336Arg) c.328G>A (p.Gly110Arg) c.667G>A (p.Gly223Arg) | dbSNP gnomAD v4 |
| 1 | g.146018353C>A | CA420603300 | HJV | c.1005G>T (p.Arg335=) c.327G>T (p.Arg109=) c.666G>T (p.Arg222=) | |
| 1 | g.146018353C>G | CA420603299 | HJV | c.1005G>C (p.Arg335=) c.327G>C (p.Arg109=) c.666G>C (p.Arg222=) | |
| 1 | g.146018353C>T | CA420603301 | HJV | c.1005G>A (p.Arg335=) c.327G>A (p.Arg109=) c.666G>A (p.Arg222=) | gnomAD v4 |
| 1 | g.146018354C>A | CA29823450 | HJV | c.1004G>T (p.Arg335Leu) c.326G>T (p.Arg109Leu) c.665G>T (p.Arg222Leu) | dbSNP |
| 1 | g.146018354C= | CA1144171503 | HJV | c.1004G= (p.Arg335=) c.326G= (p.Arg109=) c.665G= (p.Arg222=) | |
| 1 | g.146018354C>G | CA29823453 | HJV | c.1004G>C (p.Arg335Pro) c.326G>C (p.Arg109Pro) c.665G>C (p.Arg222Pro) | |
| 1 | g.146018354C>T | CA1053945 | HJV | c.1004G>A (p.Arg335Gln) c.326G>A (p.Arg109Gln) c.665G>A (p.Arg222Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.146018355G>A | CA1053944 | HJV | c.1003C>T (p.Arg335Trp) c.325C>T (p.Arg109Trp) c.664C>T (p.Arg222Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.146018355G>C | CA342134659 | HJV | c.1003C>G (p.Arg335Gly) c.325C>G (p.Arg109Gly) c.664C>G (p.Arg222Gly) | |
| 1 | g.146018355G= | CA1198820932 | HJV | c.1003C= (p.Arg335=) c.325C= (p.Arg109=) c.664C= (p.Arg222=) | |
| 1 | g.146018355G>T | CA342134655 | HJV | c.1003C>A (p.Arg335=) c.325C>A (p.Arg109=) c.664C>A (p.Arg222=) | |
| 1 | g.146018356A>C | CA420603308 | HJV | c.1002T>G (p.Arg334=) c.324T>G (p.Arg108=) c.663T>G (p.Arg221=) | |
| 1 | g.146018356A>G | CA420603307 | HJV | c.1002T>C (p.Arg334=) c.324T>C (p.Arg108=) c.663T>C (p.Arg221=) | |
| 1 | g.146018356A>T | CA420603306 | HJV | c.1002T>A (p.Arg334=) c.324T>A (p.Arg108=) c.663T>A (p.Arg221=) | |
| 1 | g.146018357C>A | CA342134661 | HJV | c.1001G>T (p.Arg334Leu) c.323G>T (p.Arg108Leu) c.662G>T (p.Arg221Leu) | gnomAD v4 |
| 1 | g.146018357C= | CA1198820933 | HJV | c.1001G= (p.Arg334=) c.323G= (p.Arg108=) c.662G= (p.Arg221=) | |
| 1 | g.146018357C>G | CA342134663 | HJV | c.1001G>C (p.Arg334Pro) c.323G>C (p.Arg108Pro) c.662G>C (p.Arg221Pro) | |
| 1 | g.146018357C>T | CA1053943 | HJV | c.1001G>A (p.Arg334His) c.323G>A (p.Arg108His) c.662G>A (p.Arg221His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.146018358G>A | CA342134666 | HJV | c.1000C>T (p.Arg334Cys) c.322C>T (p.Arg108Cys) c.661C>T (p.Arg221Cys) | dbSNP gnomAD v4 COSMIC |
| 1 | g.146018358G>C | CA342134671 | HJV | c.1000C>G (p.Arg334Gly) c.322C>G (p.Arg108Gly) c.661C>G (p.Arg221Gly) | |
| 1 | g.146018358G= | CA1198820934 | HJV | c.1000C= (p.Arg334=) c.322C= (p.Arg108=) c.661C= (p.Arg221=) | |
| 1 | g.146018358G>T | CA342134677 | HJV | c.1000C>A (p.Arg334Ser) c.322C>A (p.Arg108Ser) c.661C>A (p.Arg221Ser) | COSMIC |
| 1 | g.146018359A>C | CA342134680 | HJV | c.999T>G (p.Asn333Lys) c.321T>G (p.Asn107Lys) c.660T>G (p.Asn220Lys) | |
| 1 | g.146018359A>G | CA420603313 | HJV | c.999T>C (p.Asn333=) c.321T>C (p.Asn107=) c.660T>C (p.Asn220=) | |
| 1 | g.146018359A>T | CA342134694 | HJV | c.999T>A (p.Asn333Lys) c.321T>A (p.Asn107Lys) c.660T>A (p.Asn220Lys) | COSMIC |
| 1 | g.146018360T>A | CA29823460 | HJV | c.998A>T (p.Asn333Ile) c.320A>T (p.Asn107Ile) c.659A>T (p.Asn220Ile) | |
| 1 | g.146018360T>C | CA1053942 | HJV | c.998A>G (p.Asn333Ser) c.320A>G (p.Asn107Ser) c.659A>G (p.Asn220Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018360T>G | CA29823467 | HJV | c.998A>C (p.Asn333Thr) c.320A>C (p.Asn107Thr) c.659A>C (p.Asn220Thr) | |
| 1 | g.146018360T= | CA1198820935 | HJV | c.998A= (p.Asn333=) c.320A= (p.Asn107=) c.659A= (p.Asn220=) | |
| 1 | g.146018361T>A | CA342134726 | HJV | c.997A>T (p.Asn333Tyr) c.319A>T (p.Asn107Tyr) c.658A>T (p.Asn220Tyr) | ClinVar dbSNP |
| 1 | g.146018361T>C | CA342134722 | HJV | c.997A>G (p.Asn333Asp) c.319A>G (p.Asn107Asp) c.658A>G (p.Asn220Asp) | |
| 1 | g.146018361T>G | CA342134724 | HJV | c.997A>C (p.Asn333His) c.319A>C (p.Asn107His) c.658A>C (p.Asn220His) | gnomAD v4 |
| 1 | g.146018362G>A | CA420603317 | HJV | c.996C>T (p.Arg332=) c.318C>T (p.Arg106=) c.657C>T (p.Arg219=) | |
| 1 | g.146018362G>C | CA420603315 | HJV | c.996C>G (p.Arg332=) c.318C>G (p.Arg106=) c.657C>G (p.Arg219=) | |
| 1 | g.146018362G>T | CA420603319 | HJV | c.996C>A (p.Arg332=) c.318C>A (p.Arg106=) c.657C>A (p.Arg219=) | |
| 1 | g.146018363C>A | CA29823472 | HJV | c.995G>T (p.Arg332Leu) c.317G>T (p.Arg106Leu) c.656G>T (p.Arg219Leu) | gnomAD v4 |
| 1 | g.146018363C= | CA1198820936 | HJV | c.995G= (p.Arg332=) c.317G= (p.Arg106=) c.656G= (p.Arg219=) | |
| 1 | g.146018363C>G | CA29823488 | HJV | c.995G>C (p.Arg332Pro) c.317G>C (p.Arg106Pro) c.656G>C (p.Arg219Pro) | |
| 1 | g.146018363C>T | CA1053941 | HJV | c.995G>A (p.Arg332His) c.317G>A (p.Arg106His) c.656G>A (p.Arg219His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |