| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625541_50625575del | CA2657591045 | ARSA | c.1210+15_1210+49del (n.1210+15_1210+49del) c.952+15_952+49del (n.952+15_952+49del) c.78+15_78+49del c.1108-100_1108-66del (n.1108-100_1108-66del) c.1225_1259del (p.Trp409GlufsTer3) | gnomAD v4 |
| 22 | g.50625574del | CA2577767865 | ARSA | c.1210+8del (n.1210+8del) c.952+8del (n.952+8del) c.78+8del c.1108-107del (n.1108-107del) c.1218del (p.Ser407ProfsTer10) | |
| 22 | g.50625574G>T | CA2657591093 | ARSA | c.1210+5C>A (n.1210+5C>A) c.952+5C>A (n.952+5C>A) c.78+5C>A c.1108-110C>A (n.1108-110C>A) c.1215C>A (p.Asn405Lys) | gnomAD v4 |
| 22 | g.50625574_50625576del | CA2695231024 | ARSA | c.1210+3_1210+5del (n.1210+3_1210+5del) c.952+3_952+5del (n.952+3_952+5del) c.78+3_78+5del c.1108-112_1108-110del (n.1108-112_1108-110del) c.1213_1215del (p.Asn405del) | |
| 22 | g.50625575T>G | CA1026680392 | ARSA | c.1210+4A>C (n.1210+4A>C) c.952+4A>C (n.952+4A>C) c.78+4A>C c.1108-111A>C (n.1108-111A>C) c.1214A>C (p.Asn405Thr) | gnomAD v3 gnomAD v4 |
| 22 | g.50625577A= | CA2410958564 | ARSA | c.1210+2T= (n.1210+2T=) c.952+2T= (n.952+2T=) c.78+2T= c.1108-113T= (n.1108-113T=) c.1212T= (p.Gly404=) | |
| 22 | g.50625577A>C | CA412169723 | ARSA | c.1210+2T>G (n.1210+2T>G) c.952+2T>G (n.952+2T>G) c.78+2T>G c.1108-113T>G (n.1108-113T>G) c.1212T>G (p.Gly404=) | |
| 22 | g.50625577A>G | CA325531249 | ARSA | c.1210+2T>C (n.1210+2T>C) c.952+2T>C (n.952+2T>C) c.78+2T>C c.1108-113T>C (n.1108-113T>C) c.1212T>C (p.Gly404=) | dbSNP |
| 22 | g.50625577A>T | CA325531251 | ARSA | c.1210+2T>A (n.1210+2T>A) c.952+2T>A (n.952+2T>A) c.78+2T>A c.1108-113T>A (n.1108-113T>A) c.1212T>A (p.Gly404=) | dbSNP |
| 22 | g.50625578C>A | CA16042034 | ARSA | c.1210+1G>T (n.1210+1G>T) c.952+1G>T (n.952+1G>T) c.78+1G>T c.1108-114G>T (n.1108-114G>T) c.1211G>T (p.Gly404Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625578C= | CA2410958565 | ARSA | c.1210+1G= (n.1210+1G=) c.952+1G= (n.952+1G=) c.78+1G= c.1108-114G= (n.1108-114G=) c.1211G= (p.Gly404=) | |
| 22 | g.50625578C>G | CA412169729 | ARSA | c.1210+1G>C (n.1210+1G>C) c.952+1G>C (n.952+1G>C) c.78+1G>C c.1108-114G>C (n.1108-114G>C) c.1211G>C (p.Gly404Ala) | |
| 22 | g.50625578C>T | CA115964 | ARSA | c.1210+1G>A (n.1210+1G>A) c.952+1G>A (n.952+1G>A) c.78+1G>A c.1108-114G>A (n.1108-114G>A) c.1211G>A (p.Gly404Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625579C>A | CA412169732 | ARSA | c.1210G>T (p.Gly404Cys) c.952G>T (p.Gly318Cys) c.78G>T c.1108-115G>T (n.1108-115G>T) | |
| 22 | g.50625579C>G | CA412169734 | ARSA | c.1210G>C (p.Gly404Arg) c.952G>C (p.Gly318Arg) c.78G>C c.1108-115G>C (n.1108-115G>C) | |
| 22 | g.50625579C>T | CA412169735 | ARSA | c.1210G>A (p.Gly404Ser) c.952G>A (p.Gly318Ser) c.78G>A c.1108-115G>A (n.1108-115G>A) | gnomAD v4 |
| 22 | g.50625580C>A | CA412169739 | ARSA | c.1209G>T (p.Gln403His) c.951G>T (p.Gln317His) c.77G>T c.1108-116G>T (n.1108-116G>T) | |
| 22 | g.50625580C>G | CA412169740 | ARSA | c.1209G>C (p.Gln403His) c.951G>C (p.Gln317His) c.77G>C c.1108-116G>C (n.1108-116G>C) | |
| 22 | g.50625580C>T | CA515391451 | ARSA | c.1209G>A (p.Gln403=) c.951G>A (p.Gln317=) c.77G>A c.1108-116G>A (n.1108-116G>A) | |
| 22 | g.50625581T>A | CA412169742 | ARSA | c.1208A>T (p.Gln403Leu) c.950A>T (p.Gln317Leu) c.76A>T c.1108-117A>T (n.1108-117A>T) | |
| 22 | g.50625581T>C | CA412169744 | ARSA | c.1208A>G (p.Gln403Arg) c.950A>G (p.Gln317Arg) c.76A>G c.1108-117A>G (n.1108-117A>G) | |
| 22 | g.50625581T>G | CA412169746 | ARSA | c.1208A>C (p.Gln403Pro) c.950A>C (p.Gln317Pro) c.76A>C c.1108-117A>C (n.1108-117A>C) | |
| 22 | g.50625582G>A | CA412169752 | ARSA | c.1207C>T (p.Gln403Ter) c.949C>T (p.Gln317Ter) c.75C>T c.1108-118C>T (n.1108-118C>T) | |
| 22 | g.50625582G>C | CA412169750 | ARSA | c.1207C>G (p.Gln403Glu) c.949C>G (p.Gln317Glu) c.75C>G c.1108-118C>G (n.1108-118C>G) | dbSNP gnomAD v2 |
| 22 | g.50625582G= | CA2410958566 | ARSA | c.1207C= (p.Gln403=) c.949C= (p.Gln317=) c.75C= c.1108-118C= (n.1108-118C=) | |
| 22 | g.50625582G>T | CA412169749 | ARSA | c.1207C>A (p.Gln403Lys) c.949C>A (p.Gln317Lys) c.75C>A c.1108-118C>A (n.1108-118C>A) | |
| 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 |