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