Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120739172G>A | CA482146858 | ACADS | c.1062G>A (p.Glu354=) c.1050G>A (p.Glu350=) | |
12 | g.120739172G>C | CA386601691 | ACADS | c.1062G>C (p.Glu354Asp) c.1050G>C (p.Glu350Asp) | |
12 | g.120739172G>T | CA386601692 | ACADS | c.1062G>T (p.Glu354Asp) c.1050G>T (p.Glu350Asp) | |
12 | g.120739173G>A | CA386601693 | ACADS | c.1063G>A (p.Ala355Thr) c.1051G>A (p.Ala351Thr) | |
12 | g.120739173G>C | CA386601694 | ACADS | c.1063G>C (p.Ala355Pro) c.1051G>C (p.Ala351Pro) | |
12 | g.120739173G>T | CA386601695 | ACADS | c.1063G>T (p.Ala355Ser) c.1051G>T (p.Ala351Ser) | |
12 | g.120739174C>A | CA386601696 | ACADS | c.1064C>A (p.Ala355Asp) c.1052C>A (p.Ala351Asp) | |
12 | g.120739174C= | CA2067555728 | ACADS | c.1064C= (p.Ala355=) c.1052C= (p.Ala351=) | |
12 | g.120739174C>G | CA386601697 | ACADS | c.1064C>G (p.Ala355Gly) c.1052C>G (p.Ala351Gly) | |
12 | g.120739174C>T | CA6831198 | ACADS | c.1064C>T (p.Ala355Val) c.1052C>T (p.Ala351Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120739175C>A | CA482146862 | ACADS | c.1065C>A (p.Ala355=) c.1053C>A (p.Ala351=) | |
12 | g.120739175C= | CA2067555729 | ACADS | c.1065C= (p.Ala355=) c.1053C= (p.Ala351=) | |
12 | g.120739175C>G | CA244495193 | ACADS | c.1065C>G (p.Ala355=) c.1053C>G (p.Ala351=) | dbSNP |
12 | g.120739175C>T | CA6831199 | ACADS | c.1065C>T (p.Ala355=) c.1053C>T (p.Ala351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739176G>A | CA244495195 | ACADS | c.1066G>A (p.Ala356Thr) c.1054G>A (p.Ala352Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.120739176G>C | CA386601698 | ACADS | c.1066G>C (p.Ala356Pro) c.1054G>C (p.Ala352Pro) | |
12 | g.120739176G= | CA2067555730 | ACADS | c.1066G= (p.Ala356=) c.1054G= (p.Ala352=) | |
12 | g.120739176G>T | CA386601699 | ACADS | c.1066G>T (p.Ala356Ser) c.1054G>T (p.Ala352Ser) | dbSNP |
12 | g.120739177C>A | CA386601700 | ACADS | c.1067C>A (p.Ala356Glu) c.1055C>A (p.Ala352Glu) | |
12 | g.120739177C= | CA2067555731 | ACADS | c.1067C= (p.Ala356=) c.1055C= (p.Ala352=) | |
12 | g.120739177C>G | CA386601701 | ACADS | c.1067C>G (p.Ala356Gly) c.1055C>G (p.Ala352Gly) | |
12 | g.120739177C>T | CA386601702 | ACADS | c.1067C>T (p.Ala356Val) c.1055C>T (p.Ala352Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.120739178G>A | CA244495200 | ACADS | c.1068G>A (p.Ala356=) c.1056G>A (p.Ala352=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739178G>C | CA482146864 | ACADS | c.1068G>C (p.Ala356=) c.1056G>C (p.Ala352=) | |
12 | g.120739178G= | CA2067555732 | ACADS | c.1068G= (p.Ala356=) c.1056G= (p.Ala352=) | |
12 | g.120739178G>T | CA482146865 | ACADS | c.1068G>T (p.Ala356=) c.1056G>T (p.Ala352=) | gnomAD v4 |
12 | g.120739179A= | CA2067555733 | ACADS | c.1069A= (p.Thr357=) c.1057A= (p.Thr353=) | |
12 | g.120739179A>C | CA386601703 | ACADS | c.1069A>C (p.Thr357Pro) c.1057A>C (p.Thr353Pro) | dbSNP gnomAD v4 |
12 | g.120739179A>G | CA386601704 | ACADS | c.1069A>G (p.Thr357Ala) c.1057A>G (p.Thr353Ala) | |
12 | g.120739179A>T | CA386601705 | ACADS | c.1069A>T (p.Thr357Ser) c.1057A>T (p.Thr353Ser) | |
12 | g.120739180C>A | CA386601706 | ACADS | c.1070C>A (p.Thr357Asn) c.1058C>A (p.Thr353Asn) | |
12 | g.120739180C= | CA2067555734 | ACADS | c.1070C= (p.Thr357=) c.1058C= (p.Thr353=) | |
12 | g.120739180C>G | CA386601707 | ACADS | c.1070C>G (p.Thr357Ser) c.1058C>G (p.Thr353Ser) | dbSNP gnomAD v4 |
12 | g.120739180C>T | CA386601708 | ACADS | c.1070C>T (p.Thr357Ile) c.1058C>T (p.Thr353Ile) | |
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=) |