| 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.146018299C>A | CA420250251 | HJV | c.1059G>T (p.Val353=) c.381G>T (p.Val127=) c.720G>T (p.Val240=) | |
| 1 | g.146018299C>G | CA420250252 | HJV | c.1059G>C (p.Val353=) c.381G>C (p.Val127=) c.720G>C (p.Val240=) | |
| 1 | g.146018299C>T | CA420250250 | HJV | c.1059G>A (p.Val353=) c.381G>A (p.Val127=) c.720G>A (p.Val240=) | |
| 1 | g.146018300A>C | CA342133312 | HJV | c.1058T>G (p.Val353Gly) c.380T>G (p.Val127Gly) c.719T>G (p.Val240Gly) | |
| 1 | g.146018300A>G | CA342133314 | HJV | c.1058T>C (p.Val353Ala) c.380T>C (p.Val127Ala) c.719T>C (p.Val240Ala) | |
| 1 | g.146018300A>T | CA342133313 | HJV | c.1058T>A (p.Val353Glu) c.380T>A (p.Val127Glu) c.719T>A (p.Val240Glu) | |
| 1 | g.146018301C>A | CA342133320 | HJV | c.1057G>T (p.Val353Leu) c.379G>T (p.Val127Leu) c.718G>T (p.Val240Leu) | |
| 1 | g.146018301C>G | CA342133325 | HJV | c.1057G>C (p.Val353Leu) c.379G>C (p.Val127Leu) c.718G>C (p.Val240Leu) | |
| 1 | g.146018301C>T | CA342133328 | HJV | c.1057G>A (p.Val353Met) c.379G>A (p.Val127Met) c.718G>A (p.Val240Met) | |
| 1 | g.146018302T>A | CA420250256 | HJV | c.1056A>T (p.Pro352=) c.378A>T (p.Pro126=) c.717A>T (p.Pro239=) | |
| 1 | g.146018302T>C | CA420250255 | HJV | c.1056A>G (p.Pro352=) c.378A>G (p.Pro126=) c.717A>G (p.Pro239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018302T>G | CA420250254 | HJV | c.1056A>C (p.Pro352=) c.378A>C (p.Pro126=) c.717A>C (p.Pro239=) | |
| 1 | g.146018302T= | CA1198820910 | HJV | c.1056A= (p.Pro352=) c.378A= (p.Pro126=) c.717A= (p.Pro239=) | |
| 1 | g.146018303G>A | CA1053956 | HJV | c.1055C>T (p.Pro352Leu) c.377C>T (p.Pro126Leu) c.716C>T (p.Pro239Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018303G>C | CA29823263 | HJV | c.1055C>G (p.Pro352Arg) c.377C>G (p.Pro126Arg) c.716C>G (p.Pro239Arg) | |
| 1 | g.146018303G= | CA1143670587 | HJV | c.1055C= (p.Pro352=) c.377C= (p.Pro126=) c.716C= (p.Pro239=) | |
| 1 | g.146018303G>T | CA29823270 | HJV | c.1055C>A (p.Pro352Gln) c.377C>A (p.Pro126Gln) c.716C>A (p.Pro239Gln) | |
| 1 | g.146018304G>A | CA342133346 | HJV | c.1054C>T (p.Pro352Ser) c.376C>T (p.Pro126Ser) c.715C>T (p.Pro239Ser) | |
| 1 | g.146018304G>C | CA342133348 | HJV | c.1054C>G (p.Pro352Ala) c.376C>G (p.Pro126Ala) c.715C>G (p.Pro239Ala) | |
| 1 | g.146018304G>T | CA342133351 | HJV | c.1054C>A (p.Pro352Thr) c.376C>A (p.Pro126Thr) c.715C>A (p.Pro239Thr) | |
| 1 | g.146018305A>C | CA420603226 | HJV | c.1053T>G (p.Leu351=) c.375T>G (p.Leu125=) c.714T>G (p.Leu238=) | |
| 1 | g.146018305A>G | CA420603225 | HJV | c.1053T>C (p.Leu351=) c.375T>C (p.Leu125=) c.714T>C (p.Leu238=) | gnomAD v4 |
| 1 | g.146018305A>T | CA420603227 | HJV | c.1053T>A (p.Leu351=) c.375T>A (p.Leu125=) c.714T>A (p.Leu238=) | |
| 1 | g.146018306A>C | CA342134070 | HJV | c.1052T>G (p.Leu351Arg) c.374T>G (p.Leu125Arg) c.713T>G (p.Leu238Arg) | |
| 1 | g.146018306A>G | CA342134064 | HJV | c.1052T>C (p.Leu351Pro) c.374T>C (p.Leu125Pro) c.713T>C (p.Leu238Pro) | |
| 1 | g.146018306A>T | CA342134062 | HJV | c.1052T>A (p.Leu351His) c.374T>A (p.Leu125His) c.713T>A (p.Leu238His) | |
| 1 | g.146018307G>A | CA1053955 | HJV | c.1051C>T (p.Leu351Phe) c.373C>T (p.Leu125Phe) c.712C>T (p.Leu238Phe) | 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 |