Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120739181C>A | CA6831200 | ACADS | c.1071C>A (p.Thr357=) c.1059C>A (p.Thr353=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739181C= | CA2067555735 | ACADS | c.1071C= (p.Thr357=) c.1059C= (p.Thr353=) | |
12 | g.120739181C>G | CA482146868 | ACADS | c.1071C>G (p.Thr357=) c.1059C>G (p.Thr353=) | |
12 | g.120739181C>T | CA6831201 | ACADS | c.1071C>T (p.Thr357=) c.1059C>T (p.Thr353=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.120739182G>A | CA386601709 | ACADS | c.1072G>A (p.Ala358Thr) c.1060G>A (p.Ala354Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739182G>C | CA386601710 | ACADS | c.1072G>C (p.Ala358Pro) c.1060G>C (p.Ala354Pro) | |
12 | g.120739182G= | CA2067555736 | ACADS | c.1072G= (p.Ala358=) c.1060G= (p.Ala354=) | |
12 | g.120739182G>T | CA6831202 | ACADS | c.1072G>T (p.Ala358Ser) c.1060G>T (p.Ala354Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739186_120739192del | CA2621370180 | ACADS | c.1076_1082del (p.Ile359ThrfsTer13) c.1064_1070del (p.Ile355ThrfsTer13) | gnomAD v4 |
12 | g.120739183C>A | CA386601711 | ACADS | c.1073C>A (p.Ala358Asp) c.1061C>A (p.Ala354Asp) | |
12 | g.120739183C>G | CA386601712 | ACADS | c.1073C>G (p.Ala358Gly) c.1061C>G (p.Ala354Gly) | |
12 | g.120739183C>T | CA386601713 | ACADS | c.1073C>T (p.Ala358Val) c.1061C>T (p.Ala354Val) | |
12 | g.120739184C>A | CA482146871 | ACADS | c.1074C>A (p.Ala358=) c.1062C>A (p.Ala354=) | |
12 | g.120739184C>G | CA482146869 | ACADS | c.1074C>G (p.Ala358=) c.1062C>G (p.Ala354=) | |
12 | g.120739184C>T | CA482146870 | ACADS | c.1074C>T (p.Ala358=) c.1062C>T (p.Ala354=) | |
12 | g.120739185A= | CA2067555737 | ACADS | c.1075A= (p.Ile359=) c.1063A= (p.Ile355=) | |
12 | g.120739185A>C | CA386601714 | ACADS | c.1075A>C (p.Ile359Leu) c.1063A>C (p.Ile355Leu) | |
12 | g.120739185A>G | CA386601715 | ACADS | c.1075A>G (p.Ile359Val) c.1063A>G (p.Ile355Val) | dbSNP gnomAD v4 |
12 | g.120739185A>T | CA386601716 | ACADS | c.1075A>T (p.Ile359Phe) c.1063A>T (p.Ile355Phe) | |
12 | g.120739186T>A | CA386601717 | ACADS | c.1076T>A (p.Ile359Asn) c.1064T>A (p.Ile355Asn) | gnomAD v4 |
12 | g.120739186T>C | CA386601718 | ACADS | c.1076T>C (p.Ile359Thr) c.1064T>C (p.Ile355Thr) | gnomAD v4 |
12 | g.120739186T>G | CA386601719 | ACADS | c.1076T>G (p.Ile359Ser) c.1064T>G (p.Ile355Ser) | |
12 | g.120739187C>A | CA482146873 | ACADS | c.1077C>A (p.Ile359=) c.1065C>A (p.Ile355=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739187C= | CA2067555738 | ACADS | c.1077C= (p.Ile359=) c.1065C= (p.Ile355=) | |
12 | g.120739187C>G | CA386601720 | ACADS | c.1077C>G (p.Ile359Met) c.1065C>G (p.Ile355Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120739187C>T | CA482146875 | ACADS | c.1077C>T (p.Ile359=) c.1065C>T (p.Ile355=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739188A= | CA2067555739 | ACADS | c.1078A= (p.Ser360=) c.1066A= (p.Ser356=) | |
12 | g.120739188A>C | CA386601721 | ACADS | c.1078A>C (p.Ser360Arg) c.1066A>C (p.Ser356Arg) | |
12 | g.120739188A>G | CA6831203 | ACADS | c.1078A>G (p.Ser360Gly) c.1066A>G (p.Ser356Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739188A>T | CA386601722 | ACADS | c.1078A>T (p.Ser360Cys) c.1066A>T (p.Ser356Cys) | |
12 | g.120739189G>A | CA386601723 | ACADS | c.1079G>A (p.Ser360Asn) c.1067G>A (p.Ser356Asn) | gnomAD v4 COSMIC |
12 | g.120739189G>C | CA386601725 | ACADS | c.1079G>C (p.Ser360Thr) c.1067G>C (p.Ser356Thr) | |
12 | g.120739189G>T | CA386601724 | ACADS | c.1079G>T (p.Ser360Ile) c.1067G>T (p.Ser356Ile) | gnomAD v4 |
12 | g.120739190C>A | CA386601726 | ACADS | c.1080C>A (p.Ser360Arg) c.1068C>A (p.Ser356Arg) | |
12 | g.120739190C>G | CA386601727 | ACADS | c.1080C>G (p.Ser360Arg) c.1068C>G (p.Ser356Arg) | |
12 | g.120739190C>T | CA482146878 | ACADS | c.1080C>T (p.Ser360=) c.1068C>T (p.Ser356=) | |
12 | g.120739191C>A | CA386601728 | ACADS | c.1081C>A (p.His361Asn) c.1069C>A (p.His357Asn) | |
12 | g.120739191C>G | CA386601729 | ACADS | c.1081C>G (p.His361Asp) c.1069C>G (p.His357Asp) | |
12 | g.120739191C>T | CA386601730 | ACADS | c.1081C>T (p.His361Tyr) c.1069C>T (p.His357Tyr) | gnomAD v4 |
12 | g.120739192A>C | CA386601731 | ACADS | c.1082A>C (p.His361Pro) c.1070A>C (p.His357Pro) | |
12 | g.120739192A>G | CA386601732 | ACADS | c.1082A>G (p.His361Arg) c.1070A>G (p.His357Arg) | |
12 | g.120739192A>T | CA386601733 | ACADS | c.1082A>T (p.His361Leu) c.1070A>T (p.His357Leu) | |
12 | g.120739193C>A | CA386601734 | ACADS | c.1083C>A (p.His361Gln) c.1071C>A (p.His357Gln) | |
12 | g.120739193C>G | CA386601735 | ACADS | c.1083C>G (p.His361Gln) c.1071C>G (p.His357Gln) | |
12 | g.120739193C>T | CA482146880 | ACADS | c.1083C>T (p.His361=) c.1071C>T (p.His357=) | gnomAD v4 |
12 | g.120739194C>A | CA386601737 | ACADS | c.1084C>A (p.Gln362Lys) c.1072C>A (p.Gln358Lys) | gnomAD v4 |
12 | g.120739194C= | CA2067555740 | ACADS | c.1084C= (p.Gln362=) c.1072C= (p.Gln358=) | |
12 | g.120739194C>G | CA386601736 | ACADS | c.1084C>G (p.Gln362Glu) c.1072C>G (p.Gln358Glu) | ClinVar dbSNP |
12 | g.120739194C>T | CA6831204 | ACADS | c.1084C>T (p.Gln362Ter) c.1072C>T (p.Gln358Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739195A>C | CA386601738 | ACADS | c.1085A>C (p.Gln362Pro) c.1073A>C (p.Gln358Pro) |