| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120739168C>A | CA386601684 | ACADS | c.1058C>A (p.Ser353Ter) c.1046C>A (p.Ser349Ter) | |
| 12 | g.120739168C= | CA2067555725 | ACADS | c.1058C= (p.Ser353=) c.1046C= (p.Ser349=) | |
| 12 | g.120739168C>G | CA386601685 | ACADS | c.1058C>G (p.Ser353Trp) c.1046C>G (p.Ser349Trp) | |
| 12 | g.120739168C>T | CA252888 | ACADS | c.1058C>T (p.Ser353Leu) c.1046C>T (p.Ser349Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739169G>A | CA482146855 | ACADS | c.1059G>A (p.Ser353=) c.1047G>A (p.Ser349=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739169G>C | CA482146856 | ACADS | c.1059G>C (p.Ser353=) c.1047G>C (p.Ser349=) | |
| 12 | g.120739169G= | CA2067555726 | ACADS | c.1059G= (p.Ser353=) c.1047G= (p.Ser349=) | |
| 12 | g.120739169G>T | CA482146857 | ACADS | c.1059G>T (p.Ser353=) c.1047G>T (p.Ser349=) | |
| 12 | g.120739170G>A | CA244495188 | ACADS | c.1060G>A (p.Glu354Lys) c.1048G>A (p.Glu350Lys) | dbSNP |
| 12 | g.120739170G>C | CA386601686 | ACADS | c.1060G>C (p.Glu354Gln) c.1048G>C (p.Glu350Gln) | |
| 12 | g.120739170G= | CA2067555727 | ACADS | c.1060G= (p.Glu354=) c.1048G= (p.Glu350=) | |
| 12 | g.120739170G>T | CA386601687 | ACADS | c.1060G>T (p.Glu354Ter) c.1048G>T (p.Glu350Ter) | |
| 12 | g.120739171A>C | CA386601688 | ACADS | c.1061A>C (p.Glu354Ala) c.1049A>C (p.Glu350Ala) | |
| 12 | g.120739171A>G | CA386601689 | ACADS | c.1061A>G (p.Glu354Gly) c.1049A>G (p.Glu350Gly) | |
| 12 | g.120739171A>T | CA386601690 | ACADS | c.1061A>T (p.Glu354Val) c.1049A>T (p.Glu350Val) | |
| 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 |