| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625583G>A | CA10324798 | ARSA | c.1206C>T (p.Thr402=) c.948C>T (p.Thr316=) c.74C>T c.1108-119C>T (n.1108-119C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625583G>C | CA515391463 | ARSA | c.1206C>G (p.Thr402=) c.948C>G (p.Thr316=) c.74C>G c.1108-119C>G (n.1108-119C>G) | |
| 22 | g.50625583G= | CA2410958567 | ARSA | c.1206C= (p.Thr402=) c.948C= (p.Thr316=) c.74C= c.1108-119C= (n.1108-119C=) | |
| 22 | g.50625583G>T | CA515391460 | ARSA | c.1206C>A (p.Thr402=) c.948C>A (p.Thr316=) c.74C>A c.1108-119C>A (n.1108-119C>A) | |
| 22 | g.50625584G>A | CA412169757 | ARSA | c.1205C>T (p.Thr402Ile) c.947C>T (p.Thr316Ile) c.73C>T c.1108-120C>T (n.1108-120C>T) | |
| 22 | g.50625584G>C | CA412169759 | ARSA | c.1205C>G (p.Thr402Ser) c.947C>G (p.Thr316Ser) c.73C>G c.1108-120C>G (n.1108-120C>G) | ClinVar |
| 22 | g.50625584G>T | CA412169763 | ARSA | c.1205C>A (p.Thr402Asn) c.947C>A (p.Thr316Asn) c.73C>A c.1108-120C>A (n.1108-120C>A) | |
| 22 | g.50625585T>A | CA412169768 | ARSA | c.1204A>T (p.Thr402Ser) c.946A>T (p.Thr316Ser) c.72A>T c.1108-121A>T (n.1108-121A>T) | |
| 22 | g.50625585T>C | CA412169770 | ARSA | c.1204A>G (p.Thr402Ala) c.946A>G (p.Thr316Ala) c.72A>G c.1108-121A>G (n.1108-121A>G) | |
| 22 | g.50625585T>G | CA412169772 | ARSA | c.1204A>C (p.Thr402Pro) c.946A>C (p.Thr316Pro) c.72A>C c.1108-121A>C (n.1108-121A>C) | dbSNP |
| 22 | g.50625585T= | CA2410958569 | ARSA | c.1204A= (p.Thr402=) c.946A= (p.Thr316=) c.72A= c.1108-121A= (n.1108-121A=) | |
| 22 | g.50625585_50625588delinsTGAA | CA2410958568 | ARSA | c.1201_1204delinsTTCA (p.Phe401=) c.943_946delinsTTCA (p.Phe315=) c.69_72delinsTTCA c.1108-124_1108-121delinsTTCA (n.1108-124_1108-121delinsTTCA) | |
| 22 | g.50625586G>A | CA515391469 | ARSA | c.1203C>T (p.Phe401=) c.945C>T (p.Phe315=) c.71C>T c.1108-122C>T (n.1108-122C>T) | gnomAD v4 |
| 22 | g.50625586G>C | CA412169774 | ARSA | c.1203C>G (p.Phe401Leu) c.945C>G (p.Phe315Leu) c.71C>G c.1108-122C>G (n.1108-122C>G) | |
| 22 | g.50625586G>T | CA412169778 | ARSA | c.1203C>A (p.Phe401Leu) c.945C>A (p.Phe315Leu) c.71C>A c.1108-122C>A (n.1108-122C>A) | |
| 22 | g.50625590_50625592del | CA891844136 | ARSA | c.1201_1203del (p.Phe401del) c.943_945del (p.Phe315del) c.69_71del c.1108-124_1108-122del (n.1108-124_1108-122del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625587A>C | CA412169781 | ARSA | c.1202T>G (p.Phe401Cys) c.944T>G (p.Phe315Cys) c.70T>G c.1108-123T>G (n.1108-123T>G) | |
| 22 | g.50625587A>G | CA412169784 | ARSA | c.1202T>C (p.Phe401Ser) c.944T>C (p.Phe315Ser) c.70T>C c.1108-123T>C (n.1108-123T>C) | |
| 22 | g.50625587A>T | CA412169786 | ARSA | c.1202T>A (p.Phe401Tyr) c.944T>A (p.Phe315Tyr) c.70T>A c.1108-123T>A (n.1108-123T>A) | |
| 22 | g.50625588A= | CA2410958570 | ARSA | c.1201T= (p.Phe401=) c.943T= (p.Phe315=) c.69T= c.1108-124T= (n.1108-124T=) | |
| 22 | g.50625588A>C | CA412169794 | ARSA | c.1201T>G (p.Phe401Val) c.943T>G (p.Phe315Val) c.69T>G c.1108-124T>G (n.1108-124T>G) | |
| 22 | g.50625588A>G | CA412169791 | ARSA | c.1201T>C (p.Phe401Leu) c.943T>C (p.Phe315Leu) c.69T>C c.1108-124T>C (n.1108-124T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625588A>T | CA412169788 | ARSA | c.1201T>A (p.Phe401Ile) c.943T>A (p.Phe315Ile) c.69T>A c.1108-124T>A (n.1108-124T>A) | |
| 22 | g.50625589G>A | CA515391473 | ARSA | c.1200C>T (p.Phe400=) c.942C>T (p.Phe314=) c.68C>T c.1108-125C>T (n.1108-125C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625589G>C | CA412169797 | ARSA | c.1200C>G (p.Phe400Leu) c.942C>G (p.Phe314Leu) c.68C>G c.1108-125C>G (n.1108-125C>G) | |
| 22 | g.50625589G= | CA2410958571 | ARSA | c.1200C= (p.Phe400=) c.942C= (p.Phe314=) c.68C= c.1108-125C= (n.1108-125C=) | |
| 22 | g.50625589G>T | CA412169800 | ARSA | c.1200C>A (p.Phe400Leu) c.942C>A (p.Phe314Leu) c.68C>A c.1108-125C>A (n.1108-125C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625590A>C | CA412169803 | ARSA | c.1199T>G (p.Phe400Cys) c.941T>G (p.Phe314Cys) c.67T>G c.1108-126T>G (n.1108-126T>G) | |
| 22 | g.50625590A>G | CA412169808 | ARSA | c.1199T>C (p.Phe400Ser) c.941T>C (p.Phe314Ser) c.67T>C c.1108-126T>C (n.1108-126T>C) | ClinVar |
| 22 | g.50625590A>T | CA412169805 | ARSA | c.1199T>A (p.Phe400Tyr) c.941T>A (p.Phe314Tyr) c.67T>A c.1108-126T>A (n.1108-126T>A) | |
| 22 | g.50625591A>C | CA412169812 | ARSA | c.1198T>G (p.Phe400Val) c.940T>G (p.Phe314Val) c.66T>G c.1108-127T>G (n.1108-127T>G) | ClinVar |
| 22 | g.50625591A>G | CA412169815 | ARSA | c.1198T>C (p.Phe400Leu) c.940T>C (p.Phe314Leu) c.66T>C c.1108-127T>C (n.1108-127T>C) | |
| 22 | g.50625591A>T | CA412169818 | ARSA | c.1198T>A (p.Phe400Ile) c.940T>A (p.Phe314Ile) c.66T>A c.1108-127T>A (n.1108-127T>A) | |
| 22 | g.50625592G>A | CA515391481 | ARSA | c.1197C>T (p.His399=) c.939C>T (p.His313=) c.65C>T c.1108-128C>T (n.1108-128C>T) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625592G>C | CA10324799 | ARSA | c.1197C>G (p.His399Gln) c.939C>G (p.His313Gln) c.65C>G c.1108-128C>G (n.1108-128C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625592G= | CA2410958572 | ARSA | c.1197C= (p.His399=) c.939C= (p.His313=) c.65C= c.1108-128C= (n.1108-128C=) | |
| 22 | g.50625592G>T | CA412169822 | ARSA | c.1197C>A (p.His399Gln) c.939C>A (p.His313Gln) c.65C>A c.1108-128C>A (n.1108-128C>A) | |
| 22 | g.50625593T>A | CA412169825 | ARSA | c.1196A>T (p.His399Leu) c.938A>T (p.His313Leu) c.64A>T c.1108-129A>T (n.1108-129A>T) | |
| 22 | g.50625593T>C | CA412169832 | ARSA | c.1196A>G (p.His399Arg) c.938A>G (p.His313Arg) c.64A>G c.1108-129A>G (n.1108-129A>G) | ClinVar dbSNP |
| 22 | g.50625593T>G | CA412169836 | ARSA | c.1196A>C (p.His399Pro) c.938A>C (p.His313Pro) c.64A>C c.1108-129A>C (n.1108-129A>C) | |
| 22 | g.50625593T= | CA2410958573 | ARSA | c.1196A= (p.His399=) c.938A= (p.His313=) c.64A= c.1108-129A= (n.1108-129A=) | |
| 22 | g.50625594G>A | CA218990 | ARSA | c.1195C>T (p.His399Tyr) c.937C>T (p.His313Tyr) c.63C>T c.1108-130C>T (n.1108-130C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625594G>C | CA412169846 | ARSA | c.1195C>G (p.His399Asp) c.937C>G (p.His313Asp) c.63C>G c.1108-130C>G (n.1108-130C>G) | |
| 22 | g.50625594G= | CA2410958574 | ARSA | c.1195C= (p.His399=) c.937C= (p.His313=) c.63C= c.1108-130C= (n.1108-130C=) | |
| 22 | g.50625594G>T | CA412169859 | ARSA | c.1195C>A (p.His399Asn) c.937C>A (p.His313Asn) c.63C>A c.1108-130C>A (n.1108-130C>A) | |
| 22 | g.50625595A>C | CA515248758 | ARSA | c.1194T>G (p.Ala398=) c.936T>G (p.Ala312=) c.62T>G c.1108-131T>G (n.1108-131T>G) | |
| 22 | g.50625595A>G | CA515248759 | ARSA | c.1194T>C (p.Ala398=) c.936T>C (p.Ala312=) c.62T>C c.1108-131T>C (n.1108-131T>C) | gnomAD v4 |
| 22 | g.50625595A>T | CA515248760 | ARSA | c.1194T>A (p.Ala398=) c.936T>A (p.Ala312=) c.62T>A c.1108-131T>A (n.1108-131T>A) | |
| 22 | g.50625596G>A | CA412169886 | ARSA | c.1193C>T (p.Ala398Val) c.935C>T (p.Ala312Val) c.61C>T c.1108-132C>T (n.1108-132C>T) | |
| 22 | g.50625596G>C | CA412169871 | ARSA | c.1193C>G (p.Ala398Gly) c.935C>G (p.Ala312Gly) c.61C>G c.1108-132C>G (n.1108-132C>G) |