| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |