Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.146018138G>A | CA342131709 | HJV | c.1220C>T (p.Ser407Leu) c.542C>T (p.Ser181Leu) c.881C>T (p.Ser294Leu) | gnomAD v4 |
1 | g.146018138G>C | CA342131722 | HJV | c.1220C>G (p.Ser407Ter) c.542C>G (p.Ser181Ter) c.881C>G (p.Ser294Ter) | |
1 | g.146018138G>T | CA342131727 | HJV | c.1220C>A (p.Ser407Ter) c.542C>A (p.Ser181Ter) c.881C>A (p.Ser294Ter) | |
1 | g.146018139A>C | CA342131739 | HJV | c.1219T>G (p.Ser407Ala) c.541T>G (p.Ser181Ala) c.880T>G (p.Ser294Ala) | gnomAD v4 |
1 | g.146018139A>G | CA342131751 | HJV | c.1219T>C (p.Ser407Pro) c.541T>C (p.Ser181Pro) c.880T>C (p.Ser294Pro) | |
1 | g.146018139A>T | CA342131763 | HJV | c.1219T>A (p.Ser407Thr) c.541T>A (p.Ser181Thr) c.880T>A (p.Ser294Thr) | |
1 | g.146018140_146018143del | CA915940565 | HJV | c.1216_1219del (p.Ser406GlnfsTer5) c.538_541del (p.Ser180GlnfsTer5) c.877_880del (p.Ser293GlnfsTer5) | |
1 | g.146018140G>A | CA420250054 | HJV | c.1218C>T (p.Ser406=) c.540C>T (p.Ser180=) c.879C>T (p.Ser293=) | |
1 | g.146018140G>C | CA420250056 | HJV | c.1218C>G (p.Ser406=) c.540C>G (p.Ser180=) c.879C>G (p.Ser293=) | |
1 | g.146018140G>T | CA420250055 | HJV | c.1218C>A (p.Ser406=) c.540C>A (p.Ser180=) c.879C>A (p.Ser293=) | |
1 | g.146018141G>A | CA342131776 | HJV | c.1217C>T (p.Ser406Phe) c.539C>T (p.Ser180Phe) c.878C>T (p.Ser293Phe) | COSMIC |
1 | g.146018141G>C | CA342131794 | HJV | c.1217C>G (p.Ser406Cys) c.539C>G (p.Ser180Cys) c.878C>G (p.Ser293Cys) | |
1 | g.146018141G>T | CA342131784 | HJV | c.1217C>A (p.Ser406Tyr) c.539C>A (p.Ser180Tyr) c.878C>A (p.Ser293Tyr) | |
1 | g.146018142A>C | CA342131800 | HJV | c.1216T>G (p.Ser406Ala) c.538T>G (p.Ser180Ala) c.877T>G (p.Ser293Ala) | |
1 | g.146018142A>G | CA342131801 | HJV | c.1216T>C (p.Ser406Pro) c.538T>C (p.Ser180Pro) c.877T>C (p.Ser293Pro) | |
1 | g.146018142A>T | CA342131802 | HJV | c.1216T>A (p.Ser406Thr) c.538T>A (p.Ser180Thr) c.877T>A (p.Ser293Thr) | |
1 | g.146018143A>C | CA420250061 | HJV | c.1215T>G (p.Leu405=) c.537T>G (p.Leu179=) c.876T>G (p.Leu292=) | |
1 | g.146018143A>G | CA420250063 | HJV | c.1215T>C (p.Leu405=) c.537T>C (p.Leu179=) c.876T>C (p.Leu292=) | |
1 | g.146018143A>T | CA420250062 | HJV | c.1215T>A (p.Leu405=) c.537T>A (p.Leu179=) c.876T>A (p.Leu292=) | |
1 | g.146018144A= | CA1198820854 | HJV | c.1214T= (p.Leu405=) c.536T= (p.Leu179=) c.875T= (p.Leu292=) | |
1 | g.146018144A>C | CA29822871 | HJV | c.1214T>G (p.Leu405Arg) c.536T>G (p.Leu179Arg) c.875T>G (p.Leu292Arg) | |
1 | g.146018144A>G | CA1053982 | HJV | c.1214T>C (p.Leu405Pro) c.536T>C (p.Leu179Pro) c.875T>C (p.Leu292Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018144A>T | CA29822876 | HJV | c.1214T>A (p.Leu405His) c.536T>A (p.Leu179His) c.875T>A (p.Leu292His) | gnomAD v4 |
1 | g.146018145G>A | CA342131806 | HJV | c.1213C>T (p.Leu405Phe) c.535C>T (p.Leu179Phe) c.874C>T (p.Leu292Phe) | |
1 | g.146018145G>C | CA342131807 | HJV | c.1213C>G (p.Leu405Val) c.535C>G (p.Leu179Val) c.874C>G (p.Leu292Val) | |
1 | g.146018145G>T | CA342131813 | HJV | c.1213C>A (p.Leu405Ile) c.535C>A (p.Leu179Ile) c.874C>A (p.Leu292Ile) | |
1 | g.146018146A>C | CA420250068 | HJV | c.1212T>G (p.Pro404=) c.534T>G (p.Pro178=) c.873T>G (p.Pro291=) | gnomAD v4 |
1 | g.146018146A>G | CA420250069 | HJV | c.1212T>C (p.Pro404=) c.534T>C (p.Pro178=) c.873T>C (p.Pro291=) | |
1 | g.146018146A>T | CA420250067 | HJV | c.1212T>A (p.Pro404=) c.534T>A (p.Pro178=) c.873T>A (p.Pro291=) | |
1 | g.146018147G>A | CA342131821 | HJV | c.1211C>T (p.Pro404Leu) c.533C>T (p.Pro178Leu) c.872C>T (p.Pro291Leu) | |
1 | g.146018147G>C | CA342131817 | HJV | c.1211C>G (p.Pro404Arg) c.533C>G (p.Pro178Arg) c.872C>G (p.Pro291Arg) | |
1 | g.146018147G>T | CA342131814 | HJV | c.1211C>A (p.Pro404His) c.533C>A (p.Pro178His) c.872C>A (p.Pro291His) | |
1 | g.146018148G>A | CA342131828 | HJV | c.1210C>T (p.Pro404Ser) c.532C>T (p.Pro178Ser) c.871C>T (p.Pro291Ser) | gnomAD v4 |
1 | g.146018148G>C | CA342131832 | HJV | c.1210C>G (p.Pro404Ala) c.532C>G (p.Pro178Ala) c.871C>G (p.Pro291Ala) | |
1 | g.146018148G>T | CA342131834 | HJV | c.1210C>A (p.Pro404Thr) c.532C>A (p.Pro178Thr) c.871C>A (p.Pro291Thr) | |
1 | g.146018149A>C | CA420250074 | HJV | c.1209T>G (p.Val403=) c.531T>G (p.Val177=) c.870T>G (p.Val290=) | |
1 | g.146018149A>G | CA420250072 | HJV | c.1209T>C (p.Val403=) c.531T>C (p.Val177=) c.870T>C (p.Val290=) | gnomAD v4 |
1 | g.146018149A>T | CA420250073 | HJV | c.1209T>A (p.Val403=) c.531T>A (p.Val177=) c.870T>A (p.Val290=) | |
1 | g.146018150A>C | CA342131850 | HJV | c.1208T>G (p.Val403Gly) c.530T>G (p.Val177Gly) c.869T>G (p.Val290Gly) | |
1 | g.146018150A>G | CA342131855 | HJV | c.1208T>C (p.Val403Ala) c.530T>C (p.Val177Ala) c.869T>C (p.Val290Ala) | gnomAD v4 COSMIC |
1 | g.146018150A>T | CA342131859 | HJV | c.1208T>A (p.Val403Asp) c.530T>A (p.Val177Asp) c.869T>A (p.Val290Asp) | |
1 | g.146018151C>A | CA29822887 | HJV | c.1207G>T (p.Val403Phe) c.529G>T (p.Val177Phe) c.868G>T (p.Val290Phe) | |
1 | g.146018151C= | CA1143423674 | HJV | c.1207G= (p.Val403=) c.529G= (p.Val177=) c.868G= (p.Val290=) | |
1 | g.146018151C>G | CA29822892 | HJV | c.1207G>C (p.Val403Leu) c.529G>C (p.Val177Leu) c.868G>C (p.Val290Leu) | dbSNP |
1 | g.146018151C>T | CA1053981 | HJV | c.1207G>A (p.Val403Ile) c.529G>A (p.Val177Ile) c.868G>A (p.Val290Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018152C>A | CA420250077 | HJV | c.1206G>T (p.Gly402=) c.528G>T (p.Gly176=) c.867G>T (p.Gly289=) | ClinVar dbSNP gnomAD v4 |
1 | g.146018152C= | CA1198820855 | HJV | c.1206G= (p.Gly402=) c.528G= (p.Gly176=) c.867G= (p.Gly289=) | |
1 | g.146018152C>G | CA420250078 | HJV | c.1206G>C (p.Gly402=) c.528G>C (p.Gly176=) c.867G>C (p.Gly289=) | |
1 | g.146018152C>T | CA420250076 | HJV | c.1206G>A (p.Gly402=) c.528G>A (p.Gly176=) c.867G>A (p.Gly289=) | ClinVar dbSNP |
1 | g.146018153C>A | CA342131882 | HJV | c.1205G>T (p.Gly402Val) c.527G>T (p.Gly176Val) c.866G>T (p.Gly289Val) | |
1 | g.146018153C>G | CA342131887 | HJV | c.1205G>C (p.Gly402Ala) c.527G>C (p.Gly176Ala) c.866G>C (p.Gly289Ala) | |
1 | g.146018153C>T | CA342131889 | HJV | c.1205G>A (p.Gly402Glu) c.527G>A (p.Gly176Glu) c.866G>A (p.Gly289Glu) | |
1 | g.146018154C>A | CA342131903 | HJV | c.1204G>T (p.Gly402Trp) c.526G>T (p.Gly176Trp) c.865G>T (p.Gly289Trp) | |
1 | g.146018154C= | CA1198820856 | HJV | c.1204G= (p.Gly402=) c.526G= (p.Gly176=) c.865G= (p.Gly289=) | |
1 | g.146018154C>G | CA342131896 | HJV | c.1204G>C (p.Gly402Arg) c.526G>C (p.Gly176Arg) c.865G>C (p.Gly289Arg) | |
1 | g.146018154C>T | CA342131900 | HJV | c.1204G>A (p.Gly402Arg) c.526G>A (p.Gly176Arg) c.865G>A (p.Gly289Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018155A>C | CA420250084 | HJV | c.1203T>G (p.Ala401=) c.525T>G (p.Ala175=) c.864T>G (p.Ala288=) | |
1 | g.146018155A>G | CA420250083 | HJV | c.1203T>C (p.Ala401=) c.525T>C (p.Ala175=) c.864T>C (p.Ala288=) | |
1 | g.146018155A>T | CA420250085 | HJV | c.1203T>A (p.Ala401=) c.525T>A (p.Ala175=) c.864T>A (p.Ala288=) | |
1 | g.146018156G>A | CA342131908 | HJV | c.1202C>T (p.Ala401Val) c.524C>T (p.Ala175Val) c.863C>T (p.Ala288Val) | |
1 | g.146018156G>C | CA342131910 | HJV | c.1202C>G (p.Ala401Gly) c.524C>G (p.Ala175Gly) c.863C>G (p.Ala288Gly) | |
1 | g.146018156G>T | CA342131912 | HJV | c.1202C>A (p.Ala401Asp) c.524C>A (p.Ala175Asp) c.863C>A (p.Ala288Asp) | |
1 | g.146018157C>A | CA342131928 | HJV | c.1201G>T (p.Ala401Ser) c.523G>T (p.Ala175Ser) c.862G>T (p.Ala288Ser) | |
1 | g.146018157C>G | CA342131930 | HJV | c.1201G>C (p.Ala401Pro) c.523G>C (p.Ala175Pro) c.862G>C (p.Ala288Pro) | |
1 | g.146018157C>T | CA342131936 | HJV | c.1201G>A (p.Ala401Thr) c.523G>A (p.Ala175Thr) c.862G>A (p.Ala288Thr) | gnomAD v4 |
1 | g.146018158A>C | CA342131943 | HJV | c.1200T>G (p.Asp400Glu) c.522T>G (p.Asp174Glu) c.861T>G (p.Asp287Glu) | |
1 | g.146018158A>G | CA420250091 | HJV | c.1200T>C (p.Asp400=) c.522T>C (p.Asp174=) c.861T>C (p.Asp287=) | |
1 | g.146018158A>T | CA342131944 | HJV | c.1200T>A (p.Asp400Glu) c.522T>A (p.Asp174Glu) c.861T>A (p.Asp287Glu) | |
1 | g.146018159T>A | CA342131947 | HJV | c.1199A>T (p.Asp400Val) c.521A>T (p.Asp174Val) c.860A>T (p.Asp287Val) | |
1 | g.146018159T>C | CA342131957 | HJV | c.1199A>G (p.Asp400Gly) c.521A>G (p.Asp174Gly) c.860A>G (p.Asp287Gly) | gnomAD v4 |
1 | g.146018159T>G | CA342131963 | HJV | c.1199A>C (p.Asp400Ala) c.521A>C (p.Asp174Ala) c.860A>C (p.Asp287Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018159T= | CA1198820857 | HJV | c.1199A= (p.Asp400=) c.521A= (p.Asp174=) c.860A= (p.Asp287=) | |
1 | g.146018160C>A | CA342131972 | HJV | c.1198G>T (p.Asp400Tyr) c.520G>T (p.Asp174Tyr) c.859G>T (p.Asp287Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018160C= | CA1198820858 | HJV | c.1198G= (p.Asp400=) c.520G= (p.Asp174=) c.859G= (p.Asp287=) | |
1 | g.146018160C>G | CA342131975 | HJV | c.1198G>C (p.Asp400His) c.520G>C (p.Asp174His) c.859G>C (p.Asp287His) | |
1 | g.146018160C>T | CA342131969 | HJV | c.1198G>A (p.Asp400Asn) c.520G>A (p.Asp174Asn) c.859G>A (p.Asp287Asn) | |
1 | g.146018161T>A | CA420250095 | HJV | c.1197A>T (p.Ser399=) c.519A>T (p.Ser173=) c.858A>T (p.Ser286=) | |
1 | g.146018161T>C | CA420250093 | HJV | c.1197A>G (p.Ser399=) c.519A>G (p.Ser173=) c.858A>G (p.Ser286=) | ClinVar dbSNP gnomAD v4 |
1 | g.146018161T>G | CA420250096 | HJV | c.1197A>C (p.Ser399=) c.519A>C (p.Ser173=) c.858A>C (p.Ser286=) | gnomAD v4 |
1 | g.146018161T= | CA1198820859 | HJV | c.1197A= (p.Ser399=) c.519A= (p.Ser173=) c.858A= (p.Ser286=) | |
1 | g.146018162G>A | CA342131979 | HJV | c.1196C>T (p.Ser399Leu) c.518C>T (p.Ser173Leu) c.857C>T (p.Ser286Leu) | dbSNP |
1 | g.146018162G>C | CA342131981 | HJV | c.1196C>G (p.Ser399Ter) c.518C>G (p.Ser173Ter) c.857C>G (p.Ser286Ter) | dbSNP |
1 | g.146018162G>T | CA342131983 | HJV | c.1196C>A (p.Ser399Ter) c.518C>A (p.Ser173Ter) c.857C>A (p.Ser286Ter) | |
1 | g.146018163A>C | CA342131986 | HJV | c.1195T>G (p.Ser399Ala) c.517T>G (p.Ser173Ala) c.856T>G (p.Ser286Ala) | |
1 | g.146018163A>G | CA342131988 | HJV | c.1195T>C (p.Ser399Pro) c.517T>C (p.Ser173Pro) c.856T>C (p.Ser286Pro) | |
1 | g.146018163A>T | CA342131992 | HJV | c.1195T>A (p.Ser399Thr) c.517T>A (p.Ser173Thr) c.856T>A (p.Ser286Thr) | |
1 | g.146018164G>A | CA420250099 | HJV | c.1194C>T (p.Pro398=) c.516C>T (p.Pro172=) c.855C>T (p.Pro285=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018164G>C | CA29822901 | HJV | c.1194C>G (p.Pro398=) c.516C>G (p.Pro172=) c.855C>G (p.Pro285=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018164G= | CA1198820860 | HJV | c.1194C= (p.Pro398=) c.516C= (p.Pro172=) c.855C= (p.Pro285=) | |
1 | g.146018164G>T | CA420250100 | HJV | c.1194C>A (p.Pro398=) c.516C>A (p.Pro172=) c.855C>A (p.Pro285=) | |
1 | g.146018165G>A | CA342132001 | HJV | c.1193C>T (p.Pro398Leu) c.515C>T (p.Pro172Leu) c.854C>T (p.Pro285Leu) | |
1 | g.146018165G>C | CA342132007 | HJV | c.1193C>G (p.Pro398Arg) c.515C>G (p.Pro172Arg) c.854C>G (p.Pro285Arg) | |
1 | g.146018165G>T | CA342132008 | HJV | c.1193C>A (p.Pro398His) c.515C>A (p.Pro172His) c.854C>A (p.Pro285His) | |
1 | g.146018166G>A | CA342132020 | HJV | c.1192C>T (p.Pro398Ser) c.514C>T (p.Pro172Ser) c.853C>T (p.Pro285Ser) | COSMIC |
1 | g.146018166G>C | CA342132023 | HJV | c.1192C>G (p.Pro398Ala) c.514C>G (p.Pro172Ala) c.853C>G (p.Pro285Ala) | |
1 | g.146018166G>T | CA342132035 | HJV | c.1192C>A (p.Pro398Thr) c.514C>A (p.Pro172Thr) c.853C>A (p.Pro285Thr) | |
1 | g.146018167G>A | CA1053980 | HJV | c.1191C>T (p.Phe397=) c.513C>T (p.Phe171=) c.852C>T (p.Phe284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018167G>C | CA29822906 | HJV | c.1191C>G (p.Phe397Leu) c.513C>G (p.Phe171Leu) c.852C>G (p.Phe284Leu) | |
1 | g.146018167G= | CA1198820861 | HJV | c.1191C= (p.Phe397=) c.513C= (p.Phe171=) c.852C= (p.Phe284=) | |
1 | g.146018167G>T | CA29822912 | HJV | c.1191C>A (p.Phe397Leu) c.513C>A (p.Phe171Leu) c.852C>A (p.Phe284Leu) | |
1 | g.146018168A>C | CA342132042 | HJV | c.1190T>G (p.Phe397Cys) c.512T>G (p.Phe171Cys) c.851T>G (p.Phe284Cys) | |
1 | g.146018168A>G | CA342132047 | HJV | c.1190T>C (p.Phe397Ser) c.512T>C (p.Phe171Ser) c.851T>C (p.Phe284Ser) | |
1 | g.146018168A>T | CA342132051 | HJV | c.1190T>A (p.Phe397Tyr) c.512T>A (p.Phe171Tyr) c.851T>A (p.Phe284Tyr) | |
1 | g.146018169A>C | CA342132053 | HJV | c.1189T>G (p.Phe397Val) c.511T>G (p.Phe171Val) c.850T>G (p.Phe284Val) | |
1 | g.146018169A>G | CA342132056 | HJV | c.1189T>C (p.Phe397Leu) c.511T>C (p.Phe171Leu) c.850T>C (p.Phe284Leu) | |
1 | g.146018169A>T | CA342132058 | HJV | c.1189T>A (p.Phe397Ile) c.511T>A (p.Phe171Ile) c.850T>A (p.Phe284Ile) | |
1 | g.146018170G>A | CA420250106 | HJV | c.1188C>T (p.Leu396=) c.510C>T (p.Leu170=) c.849C>T (p.Leu283=) | |
1 | g.146018170G>C | CA420250105 | HJV | c.1188C>G (p.Leu396=) c.510C>G (p.Leu170=) c.849C>G (p.Leu283=) | ClinVar dbSNP gnomAD v2 |
1 | g.146018170G= | CA1198820862 | HJV | c.1188C= (p.Leu396=) c.510C= (p.Leu170=) c.849C= (p.Leu283=) | |
1 | g.146018170G>T | CA420250104 | HJV | c.1188C>A (p.Leu396=) c.510C>A (p.Leu170=) c.849C>A (p.Leu283=) | |
1 | g.146018171A>C | CA342132068 | HJV | c.1187T>G (p.Leu396Arg) c.509T>G (p.Leu170Arg) c.848T>G (p.Leu283Arg) | |
1 | g.146018171A>G | CA342132063 | HJV | c.1187T>C (p.Leu396Pro) c.509T>C (p.Leu170Pro) c.848T>C (p.Leu283Pro) | |
1 | g.146018171A>T | CA342132067 | HJV | c.1187T>A (p.Leu396His) c.509T>A (p.Leu170His) c.848T>A (p.Leu283His) | |
1 | g.146018172G>A | CA342132069 | HJV | c.1186C>T (p.Leu396Phe) c.508C>T (p.Leu170Phe) c.847C>T (p.Leu283Phe) | COSMIC |
1 | g.146018172G>C | CA342132071 | HJV | c.1186C>G (p.Leu396Val) c.508C>G (p.Leu170Val) c.847C>G (p.Leu283Val) | |
1 | g.146018172G= | CA1198820863 | HJV | c.1186C= (p.Leu396=) c.508C= (p.Leu170=) c.847C= (p.Leu283=) | |
1 | g.146018172G>T | CA342132074 | HJV | c.1186C>A (p.Leu396Ile) c.508C>A (p.Leu170Ile) c.847C>A (p.Leu283Ile) | |
1 | g.146018172_146018173insTT | CA888578428 | HJV | c.1185_1186insAA (p.Leu396AsnfsTer17) c.507_508insAA (p.Leu170AsnfsTer17) c.846_847insAA (p.Leu283AsnfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018173A>C | CA342132079 | HJV | c.1185T>G (p.His395Gln) c.507T>G (p.His169Gln) c.846T>G (p.His282Gln) | |
1 | g.146018173A>G | CA420250110 | HJV | c.1185T>C (p.His395=) c.507T>C (p.His169=) c.846T>C (p.His282=) | |
1 | g.146018173A>T | CA342132081 | HJV | c.1185T>A (p.His395Gln) c.507T>A (p.His169Gln) c.846T>A (p.His282Gln) | |
1 | g.146018174T>A | CA29822913 | HJV | c.1184A>T (p.His395Leu) c.506A>T (p.His169Leu) c.845A>T (p.His282Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018174T>C | CA1053979 | HJV | c.1184A>G (p.His395Arg) c.506A>G (p.His169Arg) c.845A>G (p.His282Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018174T>G | CA29822914 | HJV | c.1184A>C (p.His395Pro) c.506A>C (p.His169Pro) c.845A>C (p.His282Pro) | |
1 | g.146018174T= | CA1198820864 | HJV | c.1184A= (p.His395=) c.506A= (p.His169=) c.845A= (p.His282=) | |
1 | g.146018174_146018175delinsTG | CA1198820865 | HJV | c.1183_1184delinsCA (p.His395=) c.505_506delinsCA (p.His169=) c.844_845delinsCA (p.His282=) | |
1 | g.146018175del | CA1053977 | HJV | c.1183del (p.His395IlefsTer17) c.505del (p.His169IlefsTer17) c.844del (p.His282IlefsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018175G>A | CA342132097 | HJV | c.1183C>T (p.His395Tyr) c.505C>T (p.His169Tyr) c.844C>T (p.His282Tyr) | gnomAD v4 |
1 | g.146018175G>C | CA342132103 | HJV | c.1183C>G (p.His395Asp) c.505C>G (p.His169Asp) c.844C>G (p.His282Asp) | |
1 | g.146018175G= | CA1198820866 | HJV | c.1183C= (p.His395=) c.505C= (p.His169=) c.844C= (p.His282=) | |
1 | g.146018175G>T | CA342132109 | HJV | c.1183C>A (p.His395Asn) c.505C>A (p.His169Asn) c.844C>A (p.His282Asn) | dbSNP |
1 | g.146018176C>A | CA29822915 | HJV | c.1182G>T (p.Leu394=) c.504G>T (p.Leu168=) c.843G>T (p.Leu281=) | |
1 | g.146018176C= | CA1198820867 | HJV | c.1182G= (p.Leu394=) c.504G= (p.Leu168=) c.843G= (p.Leu281=) | |
1 | g.146018176C>G | CA29822936 | HJV | c.1182G>C (p.Leu394=) c.504G>C (p.Leu168=) c.843G>C (p.Leu281=) | |
1 | g.146018176C>T | CA1053978 | HJV | c.1182G>A (p.Leu394=) c.504G>A (p.Leu168=) c.843G>A (p.Leu281=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.146018177A= | CA1198820868 | HJV | c.1181T= (p.Leu394=) c.503T= (p.Leu168=) c.842T= (p.Leu281=) | |
1 | g.146018177A>C | CA29822942 | HJV | c.1181T>G (p.Leu394Arg) c.503T>G (p.Leu168Arg) c.842T>G (p.Leu281Arg) | |
1 | g.146018177A>G | CA1053976 | HJV | c.1181T>C (p.Leu394Pro) c.503T>C (p.Leu168Pro) c.842T>C (p.Leu281Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018177A>T | CA29822949 | HJV | c.1181T>A (p.Leu394Gln) c.503T>A (p.Leu168Gln) c.842T>A (p.Leu281Gln) | dbSNP gnomAD v4 |
1 | g.146018178G>A | CA420250115 | HJV | c.1180C>T (p.Leu394=) c.502C>T (p.Leu168=) c.841C>T (p.Leu281=) | |
1 | g.146018178G>C | CA1053975 | HJV | c.1180C>G (p.Leu394Val) c.502C>G (p.Leu168Val) c.841C>G (p.Leu281Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018178G= | CA1198820869 | HJV | c.1180C= (p.Leu394=) c.502C= (p.Leu168=) c.841C= (p.Leu281=) | |
1 | g.146018178G>T | CA342132121 | HJV | c.1180C>A (p.Leu394Met) c.502C>A (p.Leu168Met) c.841C>A (p.Leu281Met) | |
1 | g.146018179C>A | CA342132125 | HJV | c.1179G>T (p.Lys393Asn) c.501G>T (p.Lys167Asn) c.840G>T (p.Lys280Asn) | |
1 | g.146018179C>G | CA342132128 | HJV | c.1179G>C (p.Lys393Asn) c.501G>C (p.Lys167Asn) c.840G>C (p.Lys280Asn) | |
1 | g.146018179C>T | CA420250116 | HJV | c.1179G>A (p.Lys393=) c.501G>A (p.Lys167=) c.840G>A (p.Lys280=) | |
1 | g.146018180T>A | CA29822974 | HJV | c.1178A>T (p.Lys393Met) c.500A>T (p.Lys167Met) c.839A>T (p.Lys280Met) | |
1 | g.146018180T>C | CA1053974 | HJV | c.1178A>G (p.Lys393Arg) c.500A>G (p.Lys167Arg) c.839A>G (p.Lys280Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018180T>G | CA29822994 | HJV | c.1178A>C (p.Lys393Thr) c.500A>C (p.Lys167Thr) c.839A>C (p.Lys280Thr) | |
1 | g.146018180T= | CA1198820870 | HJV | c.1178A= (p.Lys393=) c.500A= (p.Lys167=) c.839A= (p.Lys280=) | |
1 | g.146018180_146018181del | CA2647575222 | HJV | c.1177_1178del (p.Lys393AlafsTer?) c.499_500del (p.Lys167AlafsTer?) c.838_839del (p.Lys280AlafsTer?) | gnomAD v4 |
1 | g.146018181T>A | CA342132144 | HJV | c.1177A>T (p.Lys393Ter) c.499A>T (p.Lys167Ter) c.838A>T (p.Lys280Ter) | |
1 | g.146018181T>C | CA342132145 | HJV | c.1177A>G (p.Lys393Glu) c.499A>G (p.Lys167Glu) c.838A>G (p.Lys280Glu) | |
1 | g.146018181T>G | CA342132146 | HJV | c.1177A>C (p.Lys393Gln) c.499A>C (p.Lys167Gln) c.838A>C (p.Lys280Gln) | |
1 | g.146018182C>A | CA342132147 | HJV | c.1176G>T (p.Glu392Asp) c.498G>T (p.Glu166Asp) c.837G>T (p.Glu279Asp) | |
1 | g.146018182C>G | CA342132149 | HJV | c.1176G>C (p.Glu392Asp) c.498G>C (p.Glu166Asp) c.837G>C (p.Glu279Asp) | |
1 | g.146018182C>T | CA420250120 | HJV | c.1176G>A (p.Glu392=) c.498G>A (p.Glu166=) c.837G>A (p.Glu279=) | ClinVar dbSNP |
1 | g.146018183T>A | CA342132155 | HJV | c.1175A>T (p.Glu392Val) c.497A>T (p.Glu166Val) c.836A>T (p.Glu279Val) | |
1 | g.146018183T>C | CA342132161 | HJV | c.1175A>G (p.Glu392Gly) c.497A>G (p.Glu166Gly) c.836A>G (p.Glu279Gly) | gnomAD v4 |
1 | g.146018183T>G | CA342132163 | HJV | c.1175A>C (p.Glu392Ala) c.497A>C (p.Glu166Ala) c.836A>C (p.Glu279Ala) | |
1 | g.146018183_146018185del | CA2647575225 | HJV | c.1173_1175del (p.Glu392del) c.495_497del (p.Glu166del) c.834_836del (p.Glu279del) | gnomAD v4 |
1 | g.146018184C>A | CA342132168 | HJV | c.1174G>T (p.Glu392Ter) c.496G>T (p.Glu166Ter) c.835G>T (p.Glu279Ter) | |
1 | g.146018184C= | CA1198820871 | HJV | c.1174G= (p.Glu392=) c.496G= (p.Glu166=) c.835G= (p.Glu279=) | |
1 | g.146018184C>G | CA342132177 | HJV | c.1174G>C (p.Glu392Gln) c.496G>C (p.Glu166Gln) c.835G>C (p.Glu279Gln) | |
1 | g.146018184C>T | CA342132178 | HJV | c.1174G>A (p.Glu392Lys) c.496G>A (p.Glu166Lys) c.835G>A (p.Glu279Lys) | dbSNP |
1 | g.146018185T>A | CA342132180 | HJV | c.1173A>T (p.Leu391Phe) c.495A>T (p.Leu165Phe) c.834A>T (p.Leu278Phe) | |
1 | g.146018185T>C | CA420250123 | HJV | c.1173A>G (p.Leu391=) c.495A>G (p.Leu165=) c.834A>G (p.Leu278=) | gnomAD v4 |
1 | g.146018185T>G | CA342132182 | HJV | c.1173A>C (p.Leu391Phe) c.495A>C (p.Leu165Phe) c.834A>C (p.Leu278Phe) | |
1 | g.146018186A>C | CA342132187 | HJV | c.1172T>G (p.Leu391Ter) c.494T>G (p.Leu165Ter) c.833T>G (p.Leu278Ter) | |
1 | g.146018186A>G | CA342132191 | HJV | c.1172T>C (p.Leu391Ser) c.494T>C (p.Leu165Ser) c.833T>C (p.Leu278Ser) | gnomAD v4 |
1 | g.146018186A>T | CA342132185 | HJV | c.1172T>A (p.Leu391Ter) c.494T>A (p.Leu165Ter) c.833T>A (p.Leu278Ter) | |
1 | g.146018187A>C | CA342132203 | HJV | c.1171T>G (p.Leu391Val) c.493T>G (p.Leu165Val) c.832T>G (p.Leu278Val) | gnomAD v4 |
1 | g.146018187A>G | CA420250125 | HJV | c.1171T>C (p.Leu391=) c.493T>C (p.Leu165=) c.832T>C (p.Leu278=) | |
1 | g.146018187A>T | CA342132201 | HJV | c.1171T>A (p.Leu391Ile) c.493T>A (p.Leu165Ile) c.832T>A (p.Leu278Ile) | |
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) |