Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.146018282T>A | CA342133151 | HJV | c.1076A>T (p.His359Leu) c.398A>T (p.His133Leu) c.737A>T (p.His246Leu) | |
1 | g.146018282T>C | CA342133152 | HJV | c.1076A>G (p.His359Arg) c.398A>G (p.His133Arg) c.737A>G (p.His246Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018282T>G | CA342133153 | HJV | c.1076A>C (p.His359Pro) c.398A>C (p.His133Pro) c.737A>C (p.His246Pro) | |
1 | g.146018282T= | CA1198820904 | HJV | c.1076A= (p.His359=) c.398A= (p.His133=) c.737A= (p.His246=) | |
1 | g.146018283G>A | CA342133154 | HJV | c.1075C>T (p.His359Tyr) c.397C>T (p.His133Tyr) c.736C>T (p.His246Tyr) | |
1 | g.146018283G>C | CA342133158 | HJV | c.1075C>G (p.His359Asp) c.397C>G (p.His133Asp) c.736C>G (p.His246Asp) | |
1 | g.146018283G>T | CA342133161 | HJV | c.1075C>A (p.His359Asn) c.397C>A (p.His133Asn) c.736C>A (p.His246Asn) | |
1 | g.146018284G>A | CA420250245 | HJV | c.1074C>T (p.Phe358=) c.396C>T (p.Phe132=) c.735C>T (p.Phe245=) | ClinVar dbSNP |
1 | g.146018284G>C | CA342133164 | HJV | c.1074C>G (p.Phe358Leu) c.396C>G (p.Phe132Leu) c.735C>G (p.Phe245Leu) | |
1 | g.146018284G>T | CA342133165 | HJV | c.1074C>A (p.Phe358Leu) c.396C>A (p.Phe132Leu) c.735C>A (p.Phe245Leu) | |
1 | g.146018285A>C | CA342133167 | HJV | c.1073T>G (p.Phe358Cys) c.395T>G (p.Phe132Cys) c.734T>G (p.Phe245Cys) | |
1 | g.146018285A>G | CA342133180 | HJV | c.1073T>C (p.Phe358Ser) c.395T>C (p.Phe132Ser) c.734T>C (p.Phe245Ser) | |
1 | g.146018285A>T | CA342133188 | HJV | c.1073T>A (p.Phe358Tyr) c.395T>A (p.Phe132Tyr) c.734T>A (p.Phe245Tyr) | |
1 | g.146018286A>C | CA342133192 | HJV | c.1072T>G (p.Phe358Val) c.394T>G (p.Phe132Val) c.733T>G (p.Phe245Val) | |
1 | g.146018286A>G | CA342133199 | HJV | c.1072T>C (p.Phe358Leu) c.394T>C (p.Phe132Leu) c.733T>C (p.Phe245Leu) | |
1 | g.146018286A>T | CA342133195 | HJV | c.1072T>A (p.Phe358Ile) c.394T>A (p.Phe132Ile) c.733T>A (p.Phe245Ile) | |
1 | g.146018287G>A | CA420250246 | HJV | c.1071C>T (p.Tyr357=) c.393C>T (p.Tyr131=) c.732C>T (p.Tyr244=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.146018287G>C | CA342133210 | HJV | c.1071C>G (p.Tyr357Ter) c.393C>G (p.Tyr131Ter) c.732C>G (p.Tyr244Ter) | |
1 | g.146018287G= | CA1198820905 | HJV | c.1071C= (p.Tyr357=) c.393C= (p.Tyr131=) c.732C= (p.Tyr244=) | |
1 | g.146018287G>T | CA342133218 | HJV | c.1071C>A (p.Tyr357Ter) c.393C>A (p.Tyr131Ter) c.732C>A (p.Tyr244Ter) | |
1 | g.146018288T>A | CA342133222 | HJV | c.1070A>T (p.Tyr357Phe) c.392A>T (p.Tyr131Phe) c.731A>T (p.Tyr244Phe) | |
1 | g.146018288T>C | CA342133224 | HJV | c.1070A>G (p.Tyr357Cys) c.392A>G (p.Tyr131Cys) c.731A>G (p.Tyr244Cys) | |
1 | g.146018288T>G | CA342133229 | HJV | c.1070A>C (p.Tyr357Ser) c.392A>C (p.Tyr131Ser) c.731A>C (p.Tyr244Ser) | |
1 | g.146018289A>C | CA342133235 | HJV | c.1069T>G (p.Tyr357Asp) c.391T>G (p.Tyr131Asp) c.730T>G (p.Tyr244Asp) | |
1 | g.146018289A>G | CA342133237 | HJV | c.1069T>C (p.Tyr357His) c.391T>C (p.Tyr131His) c.730T>C (p.Tyr244His) | gnomAD v4 |
1 | g.146018289A>T | CA342133240 | HJV | c.1069T>A (p.Tyr357Asn) c.391T>A (p.Tyr131Asn) c.730T>A (p.Tyr244Asn) | |
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.146018290A= | CA1142275298 | HJV | c.1068T= (p.Ala356=) c.390T= (p.Ala130=) c.729T= (p.Ala243=) | |
1 | g.146018290A>C | CA342133243 | HJV | c.1068T>G (p.Ala356=) c.390T>G (p.Ala130=) c.729T>G (p.Ala243=) | dbSNP |
1 | g.146018290A>G | CA1053958 | HJV | c.1068T>C (p.Ala356=) c.390T>C (p.Ala130=) c.729T>C (p.Ala243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.146018290A>T | CA342133246 | HJV | c.1068T>A (p.Ala356=) c.390T>A (p.Ala130=) c.729T>A (p.Ala243=) | |
1 | g.146018291G>A | CA342133251 | HJV | c.1067C>T (p.Ala356Val) c.389C>T (p.Ala130Val) c.728C>T (p.Ala243Val) | |
1 | g.146018291G>C | CA342133254 | HJV | c.1067C>G (p.Ala356Gly) c.389C>G (p.Ala130Gly) c.728C>G (p.Ala243Gly) | |
1 | g.146018291G= | CA1198820906 | HJV | c.1067C= (p.Ala356=) c.389C= (p.Ala130=) c.728C= (p.Ala243=) | |
1 | g.146018291G>T | CA342133255 | HJV | c.1067C>A (p.Ala356Asp) c.389C>A (p.Ala130Asp) c.728C>A (p.Ala243Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018292C>A | CA342133257 | HJV | c.1066G>T (p.Ala356Ser) c.388G>T (p.Ala130Ser) c.727G>T (p.Ala243Ser) | |
1 | g.146018292C>G | CA342133260 | HJV | c.1066G>C (p.Ala356Pro) c.388G>C (p.Ala130Pro) c.727G>C (p.Ala243Pro) | |
1 | g.146018292C>T | CA342133259 | HJV | c.1066G>A (p.Ala356Thr) c.388G>A (p.Ala130Thr) c.727G>A (p.Ala243Thr) | dbSNP |
1 | g.146018293A= | CA1198820907 | HJV | c.1065T= (p.Asp355=) c.387T= (p.Asp129=) c.726T= (p.Asp242=) | |
1 | g.146018293A>C | CA342133262 | HJV | c.1065T>G (p.Asp355Glu) c.387T>G (p.Asp129Glu) c.726T>G (p.Asp242Glu) | |
1 | g.146018293A>G | CA420250247 | HJV | c.1065T>C (p.Asp355=) c.387T>C (p.Asp129=) c.726T>C (p.Asp242=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.146018293A>T | CA342133266 | HJV | c.1065T>A (p.Asp355Glu) c.387T>A (p.Asp129Glu) c.726T>A (p.Asp242Glu) | |
1 | g.146018294T>A | CA342133276 | HJV | c.1064A>T (p.Asp355Val) c.386A>T (p.Asp129Val) c.725A>T (p.Asp242Val) | dbSNP |
1 | g.146018294T>C | CA342133280 | HJV | c.1064A>G (p.Asp355Gly) c.386A>G (p.Asp129Gly) c.725A>G (p.Asp242Gly) | |
1 | g.146018294T>G | CA342133282 | HJV | c.1064A>C (p.Asp355Ala) c.386A>C (p.Asp129Ala) c.725A>C (p.Asp242Ala) | gnomAD v4 |
1 | g.146018294T= | CA1198820908 | HJV | c.1064A= (p.Asp355=) c.386A= (p.Asp129=) c.725A= (p.Asp242=) | |
1 | g.146018295C>A | CA1053957 | HJV | c.1063G>T (p.Asp355Tyr) c.385G>T (p.Asp129Tyr) c.724G>T (p.Asp242Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.146018295C= | CA1198820909 | HJV | c.1063G= (p.Asp355=) c.385G= (p.Asp129=) c.724G= (p.Asp242=) | |
1 | g.146018295C>G | CA29823257 | HJV | c.1063G>C (p.Asp355His) c.385G>C (p.Asp129His) c.724G>C (p.Asp242His) | |
1 | g.146018295C>T | CA29823248 | HJV | c.1063G>A (p.Asp355Asn) c.385G>A (p.Asp129Asn) c.724G>A (p.Asp242Asn) | dbSNP gnomAD v2 |