Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.146018364G>A | CA1053940 | HJV | c.994C>T (p.Arg332Cys) c.316C>T (p.Arg106Cys) c.655C>T (p.Arg219Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018364G>C | CA29823501 | HJV | c.994C>G (p.Arg332Gly) c.316C>G (p.Arg106Gly) c.655C>G (p.Arg219Gly) | |
1 | g.146018364G= | CA1198820937 | HJV | c.994C= (p.Arg332=) c.316C= (p.Arg106=) c.655C= (p.Arg219=) | |
1 | g.146018364G>T | CA29823507 | HJV | c.994C>A (p.Arg332Ser) c.316C>A (p.Arg106Ser) c.655C>A (p.Arg219Ser) | gnomAD v4 |
1 | g.146018365C>A | CA29823512 | HJV | c.993G>T (p.Glu331Asp) c.315G>T (p.Glu105Asp) c.654G>T (p.Glu218Asp) | |
1 | g.146018365C= | CA1198820938 | HJV | c.993G= (p.Glu331=) c.315G= (p.Glu105=) c.654G= (p.Glu218=) | |
1 | g.146018365C>G | CA29823516 | HJV | c.993G>C (p.Glu331Asp) c.315G>C (p.Glu105Asp) c.654G>C (p.Glu218Asp) | |
1 | g.146018365C>T | CA1053939 | HJV | c.993G>A (p.Glu331=) c.315G>A (p.Glu105=) c.654G>A (p.Glu218=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018366T>A | CA342134747 | HJV | c.992A>T (p.Glu331Val) c.314A>T (p.Glu105Val) c.653A>T (p.Glu218Val) | |
1 | g.146018366T>C | CA29823519 | HJV | c.992A>G (p.Glu331Gly) c.314A>G (p.Glu105Gly) c.653A>G (p.Glu218Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018366T>G | CA342134758 | HJV | c.992A>C (p.Glu331Ala) c.314A>C (p.Glu105Ala) c.653A>C (p.Glu218Ala) | |
1 | g.146018366T= | CA1143518203 | HJV | c.992A= (p.Glu331=) c.314A= (p.Glu105=) c.653A= (p.Glu218=) | |
1 | g.146018367C>A | CA342134774 | HJV | c.991G>T (p.Glu331Ter) c.313G>T (p.Glu105Ter) c.652G>T (p.Glu218Ter) | |
1 | g.146018367C= | CA1142012801 | HJV | c.991G= (p.Glu331=) c.313G= (p.Glu105=) c.652G= (p.Glu218=) | |
1 | g.146018367C>G | CA1053938 | HJV | c.991G>C (p.Glu331Gln) c.313G>C (p.Glu105Gln) c.652G>C (p.Glu218Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018367C>T | CA342134766 | HJV | c.991G>A (p.Glu331Lys) c.313G>A (p.Glu105Lys) c.652G>A (p.Glu218Lys) | |
1 | g.146018368T>A | CA420603326 | HJV | c.990A>T (p.Ser330=) c.312A>T (p.Ser104=) c.651A>T (p.Ser217=) | |
1 | g.146018368T>C | CA420603327 | HJV | c.990A>G (p.Ser330=) c.312A>G (p.Ser104=) c.651A>G (p.Ser217=) | |
1 | g.146018368T>G | CA420603325 | HJV | c.990A>C (p.Ser330=) c.312A>C (p.Ser104=) c.651A>C (p.Ser217=) | |
1 | g.146018369G>A | CA342134781 | HJV | c.989C>T (p.Ser330Leu) c.311C>T (p.Ser104Leu) c.650C>T (p.Ser217Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018369G>C | CA342134784 | HJV | c.989C>G (p.Ser330Ter) c.311C>G (p.Ser104Ter) c.650C>G (p.Ser217Ter) | gnomAD v4 |
1 | g.146018369G= | CA1198820939 | HJV | c.989C= (p.Ser330=) c.311C= (p.Ser104=) c.650C= (p.Ser217=) | |
1 | g.146018369G>T | CA342134792 | HJV | c.989C>A (p.Ser330Ter) c.311C>A (p.Ser104Ter) c.650C>A (p.Ser217Ter) | |
1 | g.146018370A>C | CA342134797 | HJV | c.988T>G (p.Ser330Ala) c.310T>G (p.Ser104Ala) c.649T>G (p.Ser217Ala) | |
1 | g.146018370A>G | CA342134803 | HJV | c.988T>C (p.Ser330Pro) c.310T>C (p.Ser104Pro) c.649T>C (p.Ser217Pro) | |
1 | g.146018370A>T | CA342134806 | HJV | c.988T>A (p.Ser330Thr) c.310T>A (p.Ser104Thr) c.649T>A (p.Ser217Thr) | |
1 | g.146018371T>A | CA420603332 | HJV | c.987A>T (p.Arg329=) c.309A>T (p.Arg103=) c.648A>T (p.Arg216=) | |
1 | g.146018371T>C | CA420603330 | HJV | c.987A>G (p.Arg329=) c.309A>G (p.Arg103=) c.648A>G (p.Arg216=) | |
1 | g.146018371T>G | CA420603333 | HJV | c.987A>C (p.Arg329=) c.309A>C (p.Arg103=) c.648A>C (p.Arg216=) | |
1 | g.146018372C>A | CA1053937 | HJV | c.986G>T (p.Arg329Leu) c.308G>T (p.Arg103Leu) c.647G>T (p.Arg216Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018372C= | CA1198820940 | HJV | c.986G= (p.Arg329=) c.308G= (p.Arg103=) c.647G= (p.Arg216=) | |
1 | g.146018372C>G | CA1053936 | HJV | c.986G>C (p.Arg329Pro) c.308G>C (p.Arg103Pro) c.647G>C (p.Arg216Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018372C>T | CA1053935 | HJV | c.986G>A (p.Arg329Gln) c.308G>A (p.Arg103Gln) c.647G>A (p.Arg216Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018372_146018376delinsCGAGA | CA1198820941 | HJV | c.982_986delinsTCTCG (p.Ser328=) c.304_308delinsTCTCG (p.Ser102=) c.643_647delinsTCTCG (p.Ser215=) | |
1 | g.146018373G>A | CA1053934 | HJV | c.985C>T (p.Arg329Ter) c.307C>T (p.Arg103Ter) c.646C>T (p.Arg216Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018373G>C | CA29823552 | HJV | c.985C>G (p.Arg329Gly) c.307C>G (p.Arg103Gly) c.646C>G (p.Arg216Gly) | |
1 | g.146018373G= | CA1198820942 | HJV | c.985C= (p.Arg329=) c.307C= (p.Arg103=) c.646C= (p.Arg216=) | |
1 | g.146018373G>T | CA29823542 | HJV | c.985C>A (p.Arg329=) c.307C>A (p.Arg103=) c.646C>A (p.Arg216=) | |
1 | g.146018378_146018379del | CA2580611193 | HJV | c.984_985del (p.Arg329IlefsTer12) c.306_307del (p.Arg103IlefsTer12) c.645_646del (p.Arg216IlefsTer12) | ClinVar dbSNP |
1 | g.146018376_146018379del | CA252259 | HJV | c.982_985del (p.Ser328AspfsTer10) c.304_307del (p.Ser102AspfsTer10) c.643_646del (p.Ser215AspfsTer10) | ClinVar dbSNP |
1 | g.146018374A>C | CA420603338 | HJV | c.984T>G (p.Ser328=) c.306T>G (p.Ser102=) c.645T>G (p.Ser215=) | |
1 | g.146018374A>G | CA420603339 | HJV | c.984T>C (p.Ser328=) c.306T>C (p.Ser102=) c.645T>C (p.Ser215=) | |
1 | g.146018374A>T | CA420603340 | HJV | c.984T>A (p.Ser328=) c.306T>A (p.Ser102=) c.645T>A (p.Ser215=) | |
1 | g.146018375G>A | CA342134856 | HJV | c.983C>T (p.Ser328Phe) c.305C>T (p.Ser102Phe) c.644C>T (p.Ser215Phe) | gnomAD v3 gnomAD v4 |
1 | g.146018375G>C | CA342134851 | HJV | c.983C>G (p.Ser328Cys) c.305C>G (p.Ser102Cys) c.644C>G (p.Ser215Cys) | |
1 | g.146018375G>T | CA342134847 | HJV | c.983C>A (p.Ser328Tyr) c.305C>A (p.Ser102Tyr) c.644C>A (p.Ser215Tyr) | |
1 | g.146018376A= | CA1198820943 | HJV | c.982T= (p.Ser328=) c.304T= (p.Ser102=) c.643T= (p.Ser215=) | |
1 | g.146018376A>C | CA342134858 | HJV | c.982T>G (p.Ser328Ala) c.304T>G (p.Ser102Ala) c.643T>G (p.Ser215Ala) | |
1 | g.146018376A>G | CA342134861 | HJV | c.982T>C (p.Ser328Pro) c.304T>C (p.Ser102Pro) c.643T>C (p.Ser215Pro) | gnomAD v4 |
1 | g.146018376A>T | CA1053933 | HJV | c.982T>A (p.Ser328Thr) c.304T>A (p.Ser102Thr) c.643T>A (p.Ser215Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018377G>A | CA420603346 | HJV | c.981C>T (p.Leu327=) c.303C>T (p.Leu101=) c.642C>T (p.Leu214=) | |
1 | g.146018377G>C | CA1053932 | HJV | c.981C>G (p.Leu327=) c.303C>G (p.Leu101=) c.642C>G (p.Leu214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018377G= | CA1198820944 | HJV | c.981C= (p.Leu327=) c.303C= (p.Leu101=) c.642C= (p.Leu214=) | |
1 | g.146018377G>T | CA420603344 | HJV | c.981C>A (p.Leu327=) c.303C>A (p.Leu101=) c.642C>A (p.Leu214=) | |
1 | g.146018378A= | CA1198820945 | HJV | c.980T= (p.Leu327=) c.302T= (p.Leu101=) c.641T= (p.Leu214=) | |
1 | g.146018378A>C | CA29823557 | HJV | c.980T>G (p.Leu327Arg) c.302T>G (p.Leu101Arg) c.641T>G (p.Leu214Arg) | |
1 | g.146018378A>G | CA1053931 | HJV | c.980T>C (p.Leu327Pro) c.302T>C (p.Leu101Pro) c.641T>C (p.Leu214Pro) | dbSNP ExAC gnomAD v2 |
1 | g.146018378A>T | CA29823562 | HJV | c.980T>A (p.Leu327His) c.302T>A (p.Leu101His) c.641T>A (p.Leu214His) | |
1 | g.146018379G>A | CA342134883 | HJV | c.979C>T (p.Leu327Phe) c.301C>T (p.Leu101Phe) c.640C>T (p.Leu214Phe) | gnomAD v4 |
1 | g.146018379G>C | CA342134886 | HJV | c.979C>G (p.Leu327Val) c.301C>G (p.Leu101Val) c.640C>G (p.Leu214Val) | |
1 | g.146018379G>T | CA342134888 | HJV | c.979C>A (p.Leu327Ile) c.301C>A (p.Leu101Ile) c.640C>A (p.Leu214Ile) | |
1 | g.146018379_146018380del | CA2647575282 | HJV | c.978_979del (p.Arg329IlefsTer12) c.300_301del (p.Arg103IlefsTer12) c.639_640del (p.Arg216IlefsTer12) | gnomAD v4 |
1 | g.146018380del | CA2647575285 | HJV | c.978del (p.Leu327SerfsTer12) c.300del (p.Leu101SerfsTer12) c.639del (p.Leu214SerfsTer12) | gnomAD v4 |
1 | g.146018380T>A | CA420603353 | HJV | c.978A>T (p.Arg326=) c.300A>T (p.Arg100=) c.639A>T (p.Arg213=) | |
1 | g.146018380T>C | CA420603351 | HJV | c.978A>G (p.Arg326=) c.300A>G (p.Arg100=) c.639A>G (p.Arg213=) | |
1 | g.146018380T>G | CA420603350 | HJV | c.978A>C (p.Arg326=) c.300A>C (p.Arg100=) c.639A>C (p.Arg213=) | |
1 | g.146018381C>A | CA29823571 | HJV | c.977G>T (p.Arg326Leu) c.299G>T (p.Arg100Leu) c.638G>T (p.Arg213Leu) | gnomAD v4 |
1 | g.146018381C= | CA1198820946 | HJV | c.977G= (p.Arg326=) c.299G= (p.Arg100=) c.638G= (p.Arg213=) | |
1 | g.146018381C>G | CA29823574 | HJV | c.977G>C (p.Arg326Pro) c.299G>C (p.Arg100Pro) c.638G>C (p.Arg213Pro) | gnomAD v4 |
1 | g.146018381C>T | CA1053930 | HJV | c.977G>A (p.Arg326Gln) c.299G>A (p.Arg100Gln) c.638G>A (p.Arg213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018382G>A | CA252250 | HJV | c.976C>T (p.Arg326Ter) c.298C>T (p.Arg100Ter) c.637C>T (p.Arg213Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018382G>C | CA342134906 | HJV | c.976C>G (p.Arg326Gly) c.298C>G (p.Arg100Gly) c.637C>G (p.Arg213Gly) | |
1 | g.146018382G= | CA1140886747 | HJV | c.976C= (p.Arg326=) c.298C= (p.Arg100=) c.637C= (p.Arg213=) | |
1 | g.146018382G>T | CA420603356 | HJV | c.976C>A (p.Arg326=) c.298C>A (p.Arg100=) c.637C>A (p.Arg213=) | |
1 | g.146018383C>A | CA342134913 | HJV | c.975G>T (p.Gln325His) c.297G>T (p.Gln99His) c.636G>T (p.Gln212His) | dbSNP |
1 | g.146018383C>G | CA342134929 | HJV | c.975G>C (p.Gln325His) c.297G>C (p.Gln99His) c.636G>C (p.Gln212His) | dbSNP gnomAD v4 |
1 | g.146018383C>T | CA420603357 | HJV | c.975G>A (p.Gln325=) c.297G>A (p.Gln99=) c.636G>A (p.Gln212=) | |
1 | g.146018384T>A | CA342134937 | HJV | c.974A>T (p.Gln325Leu) c.296A>T (p.Gln99Leu) c.635A>T (p.Gln212Leu) | |
1 | g.146018384T>C | CA342134940 | HJV | c.974A>G (p.Gln325Arg) c.296A>G (p.Gln99Arg) c.635A>G (p.Gln212Arg) | |
1 | g.146018384T>G | CA342134944 | HJV | c.974A>C (p.Gln325Pro) c.296A>C (p.Gln99Pro) c.635A>C (p.Gln212Pro) | |
1 | g.146018385G>A | CA342134946 | HJV | c.973C>T (p.Gln325Ter) c.295C>T (p.Gln99Ter) c.634C>T (p.Gln212Ter) | |
1 | g.146018385G>C | CA342134947 | HJV | c.973C>G (p.Gln325Glu) c.295C>G (p.Gln99Glu) c.634C>G (p.Gln212Glu) | |
1 | g.146018385G>T | CA342134948 | HJV | c.973C>A (p.Gln325Lys) c.295C>A (p.Gln99Lys) c.634C>A (p.Gln212Lys) | |
1 | g.146018386A>C | CA342134949 | HJV | c.972T>G (p.Ser324Arg) c.294T>G (p.Ser98Arg) c.633T>G (p.Ser211Arg) | |
1 | g.146018386A>G | CA420603359 | HJV | c.972T>C (p.Ser324=) c.294T>C (p.Ser98=) c.633T>C (p.Ser211=) | |
1 | g.146018386A>T | CA342134951 | HJV | c.972T>A (p.Ser324Arg) c.294T>A (p.Ser98Arg) c.633T>A (p.Ser211Arg) | |
1 | g.146018387C>A | CA342134955 | HJV | c.971G>T (p.Ser324Ile) c.293G>T (p.Ser98Ile) c.632G>T (p.Ser211Ile) | |
1 | g.146018387C>G | CA342134958 | HJV | c.971G>C (p.Ser324Thr) c.293G>C (p.Ser98Thr) c.632G>C (p.Ser211Thr) | |
1 | g.146018387C>T | CA342134960 | HJV | c.971G>A (p.Ser324Asn) c.293G>A (p.Ser98Asn) c.632G>A (p.Ser211Asn) | gnomAD v4 |
1 | g.146018388T>A | CA342134970 | HJV | c.970A>T (p.Ser324Cys) c.292A>T (p.Ser98Cys) c.631A>T (p.Ser211Cys) | |
1 | g.146018388T>C | CA342134967 | HJV | c.970A>G (p.Ser324Gly) c.292A>G (p.Ser98Gly) c.631A>G (p.Ser211Gly) | |
1 | g.146018388T>G | CA342134965 | HJV | c.970A>C (p.Ser324Arg) c.292A>C (p.Ser98Arg) c.631A>C (p.Ser211Arg) | |
1 | g.146018389T>A | CA420603365 | HJV | c.969A>T (p.Pro323=) c.291A>T (p.Pro97=) c.630A>T (p.Pro210=) | |
1 | g.146018389T>C | CA420603364 | HJV | c.969A>G (p.Pro323=) c.291A>G (p.Pro97=) c.630A>G (p.Pro210=) | gnomAD v4 |
1 | g.146018389T>G | CA420603363 | HJV | c.969A>C (p.Pro323=) c.291A>C (p.Pro97=) c.630A>C (p.Pro210=) | |
1 | g.146018390G>A | CA342134973 | HJV | c.968C>T (p.Pro323Leu) c.290C>T (p.Pro97Leu) c.629C>T (p.Pro210Leu) | gnomAD v4 |
1 | g.146018390G>C | CA342134979 | HJV | c.968C>G (p.Pro323Arg) c.290C>G (p.Pro97Arg) c.629C>G (p.Pro210Arg) | gnomAD v4 |
1 | g.146018390G= | CA1198820947 | HJV | c.968C= (p.Pro323=) c.290C= (p.Pro97=) c.629C= (p.Pro210=) | |
1 | g.146018390G>T | CA342134987 | HJV | c.968C>A (p.Pro323Gln) c.290C>A (p.Pro97Gln) c.629C>A (p.Pro210Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.146018391G>A | CA342134990 | HJV | c.967C>T (p.Pro323Ser) c.289C>T (p.Pro97Ser) c.628C>T (p.Pro210Ser) | |
1 | g.146018391G>C | CA342135000 | HJV | c.967C>G (p.Pro323Ala) c.289C>G (p.Pro97Ala) c.628C>G (p.Pro210Ala) | |
1 | g.146018391G>T | CA342135005 | HJV | c.967C>A (p.Pro323Thr) c.289C>A (p.Pro97Thr) c.628C>A (p.Pro210Thr) | |
1 | g.146018392A>C | CA420603369 | HJV | c.966T>G (p.Pro322=) c.288T>G (p.Pro96=) c.627T>G (p.Pro209=) | |
1 | g.146018392A>G | CA420603368 | HJV | c.966T>C (p.Pro322=) c.288T>C (p.Pro96=) c.627T>C (p.Pro209=) | |
1 | g.146018392A>T | CA420603367 | HJV | c.966T>A (p.Pro322=) c.288T>A (p.Pro96=) c.627T>A (p.Pro209=) | |
1 | g.146018393G>A | CA342135014 | HJV | c.965C>T (p.Pro322Leu) c.287C>T (p.Pro96Leu) c.626C>T (p.Pro209Leu) | COSMIC |
1 | g.146018393G>C | CA342135018 | HJV | c.965C>G (p.Pro322Arg) c.287C>G (p.Pro96Arg) c.626C>G (p.Pro209Arg) | |
1 | g.146018393G>T | CA342135020 | HJV | c.965C>A (p.Pro322His) c.287C>A (p.Pro96His) c.626C>A (p.Pro209His) | |
1 | g.146018395del | CA2574047893 | HJV | c.965del (p.Pro322LeufsTer17) c.287del (p.Pro96LeufsTer17) c.626del (p.Pro209LeufsTer17) | |
1 | g.146018394G>A | CA342135025 | HJV | c.964C>T (p.Pro322Ser) c.286C>T (p.Pro96Ser) c.625C>T (p.Pro209Ser) | |
1 | g.146018394G>C | CA342135031 | HJV | c.964C>G (p.Pro322Ala) c.286C>G (p.Pro96Ala) c.625C>G (p.Pro209Ala) | |
1 | g.146018394G= | CA1198820948 | HJV | c.964C= (p.Pro322=) c.286C= (p.Pro96=) c.625C= (p.Pro209=) | |
1 | g.146018394G>T | CA342135033 | HJV | c.964C>A (p.Pro322Thr) c.286C>A (p.Pro96Thr) c.625C>A (p.Pro209Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018395G>A | CA420603374 | HJV | c.963C>T (p.Cys321=) c.285C>T (p.Cys95=) c.624C>T (p.Cys208=) | |
1 | g.146018395G>C | CA1053929 | HJV | c.963C>G (p.Cys321Trp) c.285C>G (p.Cys95Trp) c.624C>G (p.Cys208Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018395G= | CA1141581027 | HJV | c.963C= (p.Cys321=) c.285C= (p.Cys95=) c.624C= (p.Cys208=) | |
1 | g.146018395G>T | CA252257 | HJV | c.963C>A (p.Cys321Ter) c.285C>A (p.Cys95Ter) c.624C>A (p.Cys208Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018395_146018396delinsTT | CA2586967192 | HJV | c.962_963delinsAA (p.Cys321Ter) c.284_285delinsAA (p.Cys95Ter) c.623_624delinsAA (p.Cys208Ter) | ClinVar |
1 | g.146018396C>A | CA29823605 | HJV | c.962G>T (p.Cys321Phe) c.284G>T (p.Cys95Phe) c.623G>T (p.Cys208Phe) | |
1 | g.146018396C= | CA1198820949 | HJV | c.962G= (p.Cys321=) c.284G= (p.Cys95=) c.623G= (p.Cys208=) | |
1 | g.146018396C>G | CA29823613 | HJV | c.962G>C (p.Cys321Ser) c.284G>C (p.Cys95Ser) c.623G>C (p.Cys208Ser) | |
1 | g.146018396C>T | CA1053928 | HJV | c.962G>A (p.Cys321Tyr) c.284G>A (p.Cys95Tyr) c.623G>A (p.Cys208Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018397A>C | CA342135083 | HJV | c.961T>G (p.Cys321Gly) c.283T>G (p.Cys95Gly) c.622T>G (p.Cys208Gly) | |
1 | g.146018397A>G | CA342135087 | HJV | c.961T>C (p.Cys321Arg) c.283T>C (p.Cys95Arg) c.622T>C (p.Cys208Arg) | |
1 | g.146018397A>T | CA342135090 | HJV | c.961T>A (p.Cys321Ser) c.283T>A (p.Cys95Ser) c.622T>A (p.Cys208Ser) | |
1 | g.146018397_146018398delinsAC | CA1198820950 | HJV | c.960_961delinsGT (p.Gly320=) c.282_283delinsGT (p.Gly94=) c.621_622delinsGT (p.Gly207=) | |
1 | g.146018398C>A | CA1053927 | HJV | c.960G>T (p.Gly320=) c.282G>T (p.Gly94=) c.621G>T (p.Gly207=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.146018398C= | CA1198820951 | HJV | c.960G= (p.Gly320=) c.282G= (p.Gly94=) c.621G= (p.Gly207=) | |
1 | g.146018398C>G | CA29823624 | HJV | c.960G>C (p.Gly320=) c.282G>C (p.Gly94=) c.621G>C (p.Gly207=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018398C>T | CA29823629 | HJV | c.960G>A (p.Gly320=) c.282G>A (p.Gly94=) c.621G>A (p.Gly207=) | ClinVar dbSNP gnomAD v4 |
1 | g.146018403dup | CA1053924 | HJV | c.960dup (p.Cys321ValfsTer21) c.282dup (p.Cys95ValfsTer21) c.621dup (p.Cys208ValfsTer21) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018403del | CA526253952 | HJV | c.960del (p.Cys321AlafsTer18) c.282del (p.Cys95AlafsTer18) c.621del (p.Cys208AlafsTer18) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018399C>A | CA252249 | HJV | c.959G>T (p.Gly320Val) c.281G>T (p.Gly94Val) c.620G>T (p.Gly207Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018399C= | CA1140886749 | HJV | c.959G= (p.Gly320=) c.281G= (p.Gly94=) c.620G= (p.Gly207=) | |
1 | g.146018399C>G | CA342135108 | HJV | c.959G>C (p.Gly320Ala) c.281G>C (p.Gly94Ala) c.620G>C (p.Gly207Ala) | gnomAD v4 |
1 | g.146018399C>T | CA342135102 | HJV | c.959G>A (p.Gly320Glu) c.281G>A (p.Gly94Glu) c.620G>A (p.Gly207Glu) | gnomAD v4 |
1 | g.146018399_146018400insA | CA2745933938 | HJV | c.958_959insT (p.Gly320ValfsTer22) c.280_281insT (p.Gly94ValfsTer22) c.619_620insT (p.Gly207ValfsTer22) | |
1 | g.146018400C>A | CA1053926 | HJV | c.958G>T (p.Gly320Trp) c.280G>T (p.Gly94Trp) c.619G>T (p.Gly207Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018400C= | CA1198820952 | HJV | c.958G= (p.Gly320=) c.280G= (p.Gly94=) c.619G= (p.Gly207=) | |
1 | g.146018400C>G | CA29823639 | HJV | c.958G>C (p.Gly320Arg) c.280G>C (p.Gly94Arg) c.619G>C (p.Gly207Arg) | |
1 | g.146018400C>T | CA29823642 | HJV | c.958G>A (p.Gly320Arg) c.280G>A (p.Gly94Arg) c.619G>A (p.Gly207Arg) | gnomAD v4 |
1 | g.146018401C>A | CA420603383 | HJV | c.957G>T (p.Gly319=) c.279G>T (p.Gly93=) c.618G>T (p.Gly206=) | |
1 | g.146018401C>G | CA420603384 | HJV | c.957G>C (p.Gly319=) c.279G>C (p.Gly93=) c.618G>C (p.Gly206=) | |
1 | g.146018401C>T | CA420603382 | HJV | c.957G>A (p.Gly319=) c.279G>A (p.Gly93=) c.618G>A (p.Gly206=) | |
1 | g.146018402_146018403insACCCCAAACACACC | CA2745933939 | HJV | c.957_958insTGTGTTTGGGGTGG (p.Gly320CysfsTer24) c.279_280insTGTGTTTGGGGTGG (p.Gly94CysfsTer24) c.618_619insTGTGTTTGGGGTGG (p.Gly207CysfsTer24) | |
1 | g.146018402C>A | CA342135136 | HJV | c.956G>T (p.Gly319Val) c.278G>T (p.Gly93Val) c.617G>T (p.Gly206Val) | |
1 | g.146018402C= | CA1141668450 | HJV | c.956G= (p.Gly319=) c.278G= (p.Gly93=) c.617G= (p.Gly206=) | |
1 | g.146018402C>G | CA1053925 | HJV | c.956G>C (p.Gly319Ala) c.278G>C (p.Gly93Ala) c.617G>C (p.Gly206Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018402C>T | CA342135140 | HJV | c.956G>A (p.Gly319Glu) c.278G>A (p.Gly93Glu) c.617G>A (p.Gly206Glu) | COSMIC |
1 | g.146018402_146018403insG | CA342135141 | HJV | c.955_956insC (p.Gly319AlafsTer23) c.277_278insC (p.Gly93AlafsTer23) c.616_617insC (p.Gly206AlafsTer23) | |
1 | g.146018403C>A | CA342135149 | HJV | c.955G>T (p.Gly319Trp) c.277G>T (p.Gly93Trp) c.616G>T (p.Gly206Trp) | |
1 | g.146018403C= | CA1198820953 | HJV | c.955G= (p.Gly319=) c.277G= (p.Gly93=) c.616G= (p.Gly206=) | |
1 | g.146018403C>G | CA342135148 | HJV | c.955G>C (p.Gly319Arg) c.277G>C (p.Gly93Arg) c.616G>C (p.Gly206Arg) | |
1 | g.146018403C>T | CA342135143 | HJV | c.955G>A (p.Gly319Arg) c.277G>A (p.Gly93Arg) c.616G>A (p.Gly206Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018403_146018404insG | CA29823652 | HJV | c.954_955insC (p.Gly319ArgfsTer23) c.276_277insC (p.Gly93ArgfsTer23) c.615_616insC (p.Gly206ArgfsTer23) | |
1 | g.146018404A= | CA1198820954 | HJV | c.954T= (p.Val318=) c.276T= (p.Val92=) c.615T= (p.Val205=) | |
1 | g.146018404A>C | CA420603389 | HJV | c.954T>G (p.Val318=) c.276T>G (p.Val92=) c.615T>G (p.Val205=) | |
1 | g.146018404A>G | CA420603388 | HJV | c.954T>C (p.Val318=) c.276T>C (p.Val92=) c.615T>C (p.Val205=) | gnomAD v4 |
1 | g.146018404A>T | CA420603390 | HJV | c.954T>A (p.Val318=) c.276T>A (p.Val92=) c.615T>A (p.Val205=) | dbSNP gnomAD v4 |
1 | g.146018405A= | CA1198820955 | HJV | c.953T= (p.Val318=) c.275T= (p.Val92=) c.614T= (p.Val205=) | |
1 | g.146018405A>C | CA342135167 | HJV | c.953T>G (p.Val318Gly) c.275T>G (p.Val92Gly) c.614T>G (p.Val205Gly) | |
1 | g.146018405A>G | CA342135173 | HJV | c.953T>C (p.Val318Ala) c.275T>C (p.Val92Ala) c.614T>C (p.Val205Ala) | dbSNP gnomAD v4 |
1 | g.146018405A>T | CA342135180 | HJV | c.953T>A (p.Val318Asp) c.275T>A (p.Val92Asp) c.614T>A (p.Val205Asp) | |
1 | g.146018406C>A | CA342135184 | HJV | c.952G>T (p.Val318Phe) c.274G>T (p.Val92Phe) c.613G>T (p.Val205Phe) | |
1 | g.146018406C>G | CA342135188 | HJV | c.952G>C (p.Val318Leu) c.274G>C (p.Val92Leu) c.613G>C (p.Val205Leu) | |
1 | g.146018406C>T | CA342135191 | HJV | c.952G>A (p.Val318Ile) c.274G>A (p.Val92Ile) c.613G>A (p.Val205Ile) | gnomAD v4 |
1 | g.146018407A>C | CA342135197 | HJV | c.951T>G (p.Cys317Trp) c.273T>G (p.Cys91Trp) c.612T>G (p.Cys204Trp) | |
1 | g.146018407A>G | CA420603395 | HJV | c.951T>C (p.Cys317=) c.273T>C (p.Cys91=) c.612T>C (p.Cys204=) | |
1 | g.146018407A>T | CA342135215 | HJV | c.951T>A (p.Cys317Ter) c.273T>A (p.Cys91Ter) c.612T>A (p.Cys204Ter) | |
1 | g.146018408C>A | CA342135227 | HJV | c.950G>T (p.Cys317Phe) c.272G>T (p.Cys91Phe) c.611G>T (p.Cys204Phe) | |
1 | g.146018408C= | CA1198820956 | HJV | c.950G= (p.Cys317=) c.272G= (p.Cys91=) c.611G= (p.Cys204=) | |
1 | g.146018408C>G | CA342135226 | HJV | c.950G>C (p.Cys317Ser) c.272G>C (p.Cys91Ser) c.611G>C (p.Cys204Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018408C>T | CA342135224 | HJV | c.950G>A (p.Cys317Tyr) c.272G>A (p.Cys91Tyr) c.611G>A (p.Cys204Tyr) | ClinVar dbSNP |
1 | g.146018409A>C | CA342135229 | HJV | c.949T>G (p.Cys317Gly) c.271T>G (p.Cys91Gly) c.610T>G (p.Cys204Gly) | |
1 | g.146018409A>G | CA342135245 | HJV | c.949T>C (p.Cys317Arg) c.271T>C (p.Cys91Arg) c.610T>C (p.Cys204Arg) | |
1 | g.146018409A>T | CA342135244 | HJV | c.949T>A (p.Cys317Ser) c.271T>A (p.Cys91Ser) c.610T>A (p.Cys204Ser) | |
1 | g.146018410G>A | CA420603400 | HJV | c.948C>T (p.Leu316=) c.270C>T (p.Leu90=) c.609C>T (p.Leu203=) | |
1 | g.146018410G>C | CA420603401 | HJV | c.948C>G (p.Leu316=) c.270C>G (p.Leu90=) c.609C>G (p.Leu203=) | |
1 | g.146018410G>T | CA420603399 | HJV | c.948C>A (p.Leu316=) c.270C>A (p.Leu90=) c.609C>A (p.Leu203=) | |
1 | g.146018411A>C | CA342135246 | HJV | c.947T>G (p.Leu316Arg) c.269T>G (p.Leu90Arg) c.608T>G (p.Leu203Arg) | |
1 | g.146018411A>G | CA342135248 | HJV | c.947T>C (p.Leu316Pro) c.269T>C (p.Leu90Pro) c.608T>C (p.Leu203Pro) | |
1 | g.146018411A>T | CA342135247 | HJV | c.947T>A (p.Leu316His) c.269T>A (p.Leu90His) c.608T>A (p.Leu203His) | |
1 | g.146018412G>A | CA342135252 | HJV | c.946C>T (p.Leu316Phe) c.268C>T (p.Leu90Phe) c.607C>T (p.Leu203Phe) | |
1 | g.146018412G>C | CA342135255 | HJV | c.946C>G (p.Leu316Val) c.268C>G (p.Leu90Val) c.607C>G (p.Leu203Val) | |
1 | g.146018412G>T | CA342135257 | HJV | c.946C>A (p.Leu316Ile) c.268C>A (p.Leu90Ile) c.607C>A (p.Leu203Ile) | |
1 | g.146018413C>A | CA342135258 | HJV | c.945G>T (p.Gln315His) c.267G>T (p.Gln89His) c.606G>T (p.Gln202His) | |
1 | g.146018413C= | CA1198820957 | HJV | c.945G= (p.Gln315=) c.267G= (p.Gln89=) c.606G= (p.Gln202=) | |
1 | g.146018413C>G | CA342135259 | HJV | c.945G>C (p.Gln315His) c.267G>C (p.Gln89His) c.606G>C (p.Gln202His) | |
1 | g.146018413C>T | CA420603404 | HJV | c.945G>A (p.Gln315=) c.267G>A (p.Gln89=) c.606G>A (p.Gln202=) | dbSNP |
1 | g.146018414T>A | CA342135260 | HJV | c.944A>T (p.Gln315Leu) c.266A>T (p.Gln89Leu) c.605A>T (p.Gln202Leu) | |
1 | g.146018414T>C | CA342135261 | HJV | c.944A>G (p.Gln315Arg) c.266A>G (p.Gln89Arg) c.605A>G (p.Gln202Arg) | |
1 | g.146018414T>G | CA342135263 | HJV | c.944A>C (p.Gln315Pro) c.266A>C (p.Gln89Pro) c.605A>C (p.Gln202Pro) | |
1 | g.146018415G>A | CA342135296 | HJV | c.943C>T (p.Gln315Ter) c.265C>T (p.Gln89Ter) c.604C>T (p.Gln202Ter) | |
1 | g.146018415G>C | CA342135300 | HJV | c.943C>G (p.Gln315Glu) c.265C>G (p.Gln89Glu) c.604C>G (p.Gln202Glu) | |
1 | g.146018415G>T | CA342135315 | HJV | c.943C>A (p.Gln315Lys) c.265C>A (p.Gln89Lys) c.604C>A (p.Gln202Lys) | |
1 | g.146018416C>A | CA420603412 | HJV | c.942G>T (p.Leu314=) c.264G>T (p.Leu88=) c.603G>T (p.Leu201=) | |
1 | g.146018416C>G | CA420603411 | HJV | c.942G>C (p.Leu314=) c.264G>C (p.Leu88=) c.603G>C (p.Leu201=) | |
1 | g.146018416C>T | CA420603410 | HJV | c.942G>A (p.Leu314=) c.264G>A (p.Leu88=) c.603G>A (p.Leu201=) | ClinVar dbSNP |