| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120739137_120739154dup | CA1139662939 | ACADS | c.1030-3_1044dup c.1018-3_1032dup | ClinVar dbSNP |
| 12 | g.120739148C>A | CA482146821 | ACADS | c.1038C>A (p.Ala346=) c.1026C>A (p.Ala342=) | |
| 12 | g.120739148C>G | CA482146823 | ACADS | c.1038C>G (p.Ala346=) c.1026C>G (p.Ala342=) | |
| 12 | g.120739148C>T | CA482146822 | ACADS | c.1038C>T (p.Ala346=) c.1026C>T (p.Ala342=) | |
| 12 | g.120739149A= | CA2067555717 | ACADS | c.1039A= (p.Met347=) c.1027A= (p.Met343=) | |
| 12 | g.120739149A>C | CA386601646 | ACADS | c.1039A>C (p.Met347Leu) c.1027A>C (p.Met343Leu) | |
| 12 | g.120739149A>G | CA312224 | ACADS | c.1039A>G (p.Met347Val) c.1027A>G (p.Met343Val) | dbSNP |
| 12 | g.120739149A>T | CA386601647 | ACADS | c.1039A>T (p.Met347Leu) c.1027A>T (p.Met343Leu) | |
| 12 | g.120739150T>A | CA386601648 | ACADS | c.1040T>A (p.Met347Lys) c.1028T>A (p.Met343Lys) | |
| 12 | g.120739150T>C | CA386601649 | ACADS | c.1040T>C (p.Met347Thr) c.1028T>C (p.Met343Thr) | |
| 12 | g.120739150T>G | CA386601650 | ACADS | c.1040T>G (p.Met347Arg) c.1028T>G (p.Met343Arg) | |
| 12 | g.120739150T= | CA2067555718 | ACADS | c.1040T= (p.Met347=) c.1028T= (p.Met343=) | |
| 12 | g.120739151G>A | CA386601651 | ACADS | c.1041G>A (p.Met347Ile) c.1029G>A (p.Met343Ile) | |
| 12 | g.120739151G>C | CA386601652 | ACADS | c.1041G>C (p.Met347Ile) c.1029G>C (p.Met343Ile) | |
| 12 | g.120739151G>T | CA386601653 | ACADS | c.1041G>T (p.Met347Ile) c.1029G>T (p.Met343Ile) | |
| 12 | g.120739152dup | CA684418892 | ACADS | c.1042dup (p.Ala348GlyfsTer?) c.1030dup (p.Ala344GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739152G>A | CA386601654 | ACADS | c.1042G>A (p.Ala348Thr) c.1030G>A (p.Ala344Thr) | |
| 12 | g.120739152G>C | CA386601655 | ACADS | c.1042G>C (p.Ala348Pro) c.1030G>C (p.Ala344Pro) | |
| 12 | g.120739152G>T | CA386601656 | ACADS | c.1042G>T (p.Ala348Ser) c.1030G>T (p.Ala344Ser) | gnomAD v4 |
| 12 | g.120739153C>A | CA386601659 | ACADS | c.1043C>A (p.Ala348Asp) c.1031C>A (p.Ala344Asp) | |
| 12 | g.120739153C>G | CA386601658 | ACADS | c.1043C>G (p.Ala348Gly) c.1031C>G (p.Ala344Gly) | |
| 12 | g.120739153C>T | CA386601657 | ACADS | c.1043C>T (p.Ala348Val) c.1031C>T (p.Ala344Val) | |
| 12 | g.120739154C>A | CA482146831 | ACADS | c.1044C>A (p.Ala348=) c.1032C>A (p.Ala344=) | |
| 12 | g.120739154C>G | CA482146835 | ACADS | c.1044C>G (p.Ala348=) c.1032C>G (p.Ala344=) | |
| 12 | g.120739154C>T | CA482146833 | ACADS | c.1044C>T (p.Ala348=) c.1032C>T (p.Ala344=) | |
| 12 | g.120739155A>C | CA386601660 | ACADS | c.1045A>C (p.Lys349Gln) c.1033A>C (p.Lys345Gln) | |
| 12 | g.120739155A>G | CA386601662 | ACADS | c.1045A>G (p.Lys349Glu) c.1033A>G (p.Lys345Glu) | |
| 12 | g.120739155A>T | CA386601661 | ACADS | c.1045A>T (p.Lys349Ter) c.1033A>T (p.Lys345Ter) | |
| 12 | g.120739156A>C | CA386601663 | ACADS | c.1046A>C (p.Lys349Thr) c.1034A>C (p.Lys345Thr) | |
| 12 | g.120739156A>G | CA386601665 | ACADS | c.1046A>G (p.Lys349Arg) c.1034A>G (p.Lys345Arg) | |
| 12 | g.120739156A>T | CA386601664 | ACADS | c.1046A>T (p.Lys349Met) c.1034A>T (p.Lys345Met) | |
| 12 | g.120739157G>A | CA482146839 | ACADS | c.1047G>A (p.Lys349=) c.1035G>A (p.Lys345=) | |
| 12 | g.120739157G>C | CA386601666 | ACADS | c.1047G>C (p.Lys349Asn) c.1035G>C (p.Lys345Asn) | |
| 12 | g.120739157G>T | CA386601667 | ACADS | c.1047G>T (p.Lys349Asn) c.1035G>T (p.Lys345Asn) | |
| 12 | g.120739158C>A | CA386601668 | ACADS | c.1048C>A (p.Leu350Met) c.1036C>A (p.Leu346Met) | |
| 12 | g.120739158C>G | CA386601669 | ACADS | c.1048C>G (p.Leu350Val) c.1036C>G (p.Leu346Val) | |
| 12 | g.120739158C>T | CA482146841 | ACADS | c.1048C>T (p.Leu350=) c.1036C>T (p.Leu346=) | gnomAD v4 |
| 12 | g.120739159T>A | CA386601670 | ACADS | c.1049T>A (p.Leu350Gln) c.1037T>A (p.Leu346Gln) | |
| 12 | g.120739159T>C | CA386601671 | ACADS | c.1049T>C (p.Leu350Pro) c.1037T>C (p.Leu346Pro) | |
| 12 | g.120739159T>G | CA386601672 | ACADS | c.1049T>G (p.Leu350Arg) c.1037T>G (p.Leu346Arg) | |
| 12 | g.120739160G>A | CA482146845 | ACADS | c.1050G>A (p.Leu350=) c.1038G>A (p.Leu346=) | gnomAD v4 |
| 12 | g.120739160G>C | CA482146846 | ACADS | c.1050G>C (p.Leu350=) c.1038G>C (p.Leu346=) | |
| 12 | g.120739160G= | CA2067555719 | ACADS | c.1050G= (p.Leu350=) c.1038G= (p.Leu346=) | |
| 12 | g.120739160G>T | CA6831193 | ACADS | c.1050G>T (p.Leu350=) c.1038G>T (p.Leu346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739161G>A | CA386601673 | ACADS | c.1051G>A (p.Ala351Thr) c.1039G>A (p.Ala347Thr) | dbSNP gnomAD v2 |
| 12 | g.120739161G>C | CA386601674 | ACADS | c.1051G>C (p.Ala351Pro) c.1039G>C (p.Ala347Pro) | |
| 12 | g.120739161G= | CA2067555720 | ACADS | c.1051G= (p.Ala351=) c.1039G= (p.Ala347=) | |
| 12 | g.120739161G>T | CA386601675 | ACADS | c.1051G>T (p.Ala351Ser) c.1039G>T (p.Ala347Ser) | dbSNP |
| 12 | g.120739162C>A | CA386601677 | ACADS | c.1052C>A (p.Ala351Asp) c.1040C>A (p.Ala347Asp) | dbSNP |
| 12 | g.120739162C= | CA2067555721 | ACADS | c.1052C= (p.Ala351=) c.1040C= (p.Ala347=) | |
| 12 | g.120739162C>G | CA386601676 | ACADS | c.1052C>G (p.Ala351Gly) c.1040C>G (p.Ala347Gly) | |
| 12 | g.120739162C>T | CA6831194 | ACADS | c.1052C>T (p.Ala351Val) c.1040C>T (p.Ala347Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.120739163C>A | CA482146849 | ACADS | c.1053C>A (p.Ala351=) c.1041C>A (p.Ala347=) | gnomAD v4 |
| 12 | g.120739163C= | CA2067555722 | ACADS | c.1053C= (p.Ala351=) c.1041C= (p.Ala347=) | |
| 12 | g.120739163C>G | CA482146848 | ACADS | c.1053C>G (p.Ala351=) c.1041C>G (p.Ala347=) | |
| 12 | g.120739163C>T | CA6831195 | ACADS | c.1053C>T (p.Ala351=) c.1041C>T (p.Ala347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739164G>A | CA6831196 | ACADS | c.1054G>A (p.Ala352Thr) c.1042G>A (p.Ala348Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739164G>C | CA386601678 | ACADS | c.1054G>C (p.Ala352Pro) c.1042G>C (p.Ala348Pro) | |
| 12 | g.120739164G= | CA2067555723 | ACADS | c.1054G= (p.Ala352=) c.1042G= (p.Ala348=) | |
| 12 | g.120739164G>T | CA6831197 | ACADS | c.1054G>T (p.Ala352Ser) c.1042G>T (p.Ala348Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739165C>A | CA386601679 | ACADS | c.1055C>A (p.Ala352Asp) c.1043C>A (p.Ala348Asp) | |
| 12 | g.120739165C>G | CA386601680 | ACADS | c.1055C>G (p.Ala352Gly) c.1043C>G (p.Ala348Gly) | |
| 12 | g.120739165C>T | CA386601681 | ACADS | c.1055C>T (p.Ala352Val) c.1043C>T (p.Ala348Val) | |
| 12 | g.120739166C>A | CA482146851 | ACADS | c.1056C>A (p.Ala352=) c.1044C>A (p.Ala348=) | |
| 12 | g.120739166C>G | CA482146852 | ACADS | c.1056C>G (p.Ala352=) c.1044C>G (p.Ala348=) | |
| 12 | g.120739166C>T | CA482146853 | ACADS | c.1056C>T (p.Ala352=) c.1044C>T (p.Ala348=) | |
| 12 | g.120739167T>A | CA386601682 | ACADS | c.1057T>A (p.Ser353Thr) c.1045T>A (p.Ser349Thr) | |
| 12 | g.120739167T>C | CA312226 | ACADS | c.1057T>C (p.Ser353Pro) c.1045T>C (p.Ser349Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739167T>G | CA386601683 | ACADS | c.1057T>G (p.Ser353Ala) c.1045T>G (p.Ser349Ala) | |
| 12 | g.120739167T= | CA2067555724 | ACADS | c.1057T= (p.Ser353=) c.1045T= (p.Ser349=) | |
| 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 |
| 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) | |
| 12 | g.120739195A>G | CA386601739 | ACADS | c.1085A>G (p.Gln362Arg) c.1073A>G (p.Gln358Arg) | |
| 12 | g.120739195A>T | CA386601740 | ACADS | c.1085A>T (p.Gln362Leu) c.1073A>T (p.Gln358Leu) | gnomAD v4 |
| 12 | g.120739195_120739196del | CA912973556 | ACADS | c.1085_1086del (p.Gln362ArgfsTer27) c.1073_1074del (p.Gln358ArgfsTer27) | |
| 12 | g.120739195_120739196delinsAG | CA2067555741 | ACADS | c.1085_1086delinsAG (p.Gln362=) c.1073_1074delinsAG (p.Gln358=) | |
| 12 | g.120739196G>A | CA482146882 | ACADS | c.1086G>A (p.Gln362=) c.1074G>A (p.Gln358=) | |
| 12 | g.120739196G>C | CA386601741 | ACADS | c.1086G>C (p.Gln362His) c.1074G>C (p.Gln358His) | |
| 12 | g.120739196G>T | CA386601742 | ACADS | c.1086G>T (p.Gln362His) c.1074G>T (p.Gln358His) | |
| 12 | g.120739197del | CA658822774 | ACADS | c.1086+1del c.1074+1del | ClinVar dbSNP gnomAD v4 |
| 12 | g.120739197G>A | CA386601743 | ACADS | c.1086+1G>A (n.1086+1G>A) c.1074+1G>A (n.1074+1G>A) | ClinVar dbSNP |
| 12 | g.120739197G>C | CA386601744 | ACADS | c.1086+1G>C (n.1086+1G>C) c.1074+1G>C (n.1074+1G>C) | |
| 12 | g.120739197G= | CA2067555742 | ACADS | c.1086+1G= (n.1086+1G=) c.1074+1G= (n.1074+1G=) | |
| 12 | g.120739197G>T | CA386601745 | ACADS | c.1086+1G>T (n.1086+1G>T) c.1074+1G>T (n.1074+1G>T) | ClinVar dbSNP |
| 12 | g.120739198T>A | CA386601746 | ACADS | c.1086+2T>A (n.1086+2T>A) c.1074+2T>A (n.1074+2T>A) | |
| 12 | g.120739198T>C | CA386601747 | ACADS | c.1086+2T>C (n.1086+2T>C) c.1074+2T>C (n.1074+2T>C) | |
| 12 | g.120739198T>G | CA386601748 | ACADS | c.1086+2T>G (n.1086+2T>G) c.1074+2T>G (n.1074+2T>G) | ClinVar |
| 12 | g.120739200A>G | CA2575321543 | ACADS | c.1086+4A>G (n.1086+4A>G) c.1074+4A>G (n.1074+4A>G) | |
| 12 | g.120739201G>A | CA244495227 | ACADS | c.1086+5G>A (n.1086+5G>A) c.1074+5G>A (n.1074+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739201G= | CA2067555743 | ACADS | c.1086+5G= (n.1086+5G=) c.1074+5G= (n.1074+5G=) | |
| 12 | g.120739207A= | CA2067555744 | ACADS | c.1086+11A= (n.1086+11A=) c.1074+11A= (n.1074+11A=) | |
| 12 | g.120739207A>G | CA6831205 | ACADS | c.1086+11A>G (n.1086+11A>G) c.1074+11A>G (n.1074+11A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739207A>T | CA2797705126 | ACADS | c.1086+11A>T (n.1086+11A>T) c.1074+11A>T (n.1074+11A>T) | |
| 12 | g.120739208C= | CA2067555745 | ACADS | c.1086+12C= (n.1086+12C=) c.1074+12C= (n.1074+12C=) | |
| 12 | g.120739208C>T | CA6831206 | ACADS | c.1086+12C>T (n.1086+12C>T) c.1074+12C>T (n.1074+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739209A>G | CA2621370233 | ACADS | c.1086+13A>G (n.1086+13A>G) c.1074+13A>G (n.1074+13A>G) | gnomAD v4 |
| 12 | g.120739211T>G | CA6831207 | ACADS | c.1086+15T>G (n.1086+15T>G) c.1074+15T>G (n.1074+15T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739211T= | CA2067555746 | ACADS | c.1086+15T= (n.1086+15T=) c.1074+15T= (n.1074+15T=) | |
| 12 | g.120739213A= | CA2067555747 | ACADS | c.1086+17A= (n.1086+17A=) c.1074+17A= (n.1074+17A=) | |
| 12 | g.120739213A>G | CA244495261 | ACADS | c.1086+17A>G (n.1086+17A>G) c.1074+17A>G (n.1074+17A>G) | dbSNP |
| 12 | g.120739215C>A | CA2580085937 | ACADS | c.1086+19C>A (n.1086+19C>A) c.1074+19C>A (n.1074+19C>A) | ClinVar |
| 12 | g.120739217C= | CA2067555748 | ACADS | c.1086+21C= (n.1086+21C=) c.1074+21C= (n.1074+21C=) | |
| 12 | g.120739217C>T | CA6831208 | ACADS | c.1086+21C>T (n.1086+21C>T) c.1074+21C>T (n.1074+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739219G>C | CA2575321544 | ACADS | c.1086+23G>C (n.1086+23G>C) c.1074+23G>C (n.1074+23G>C) | gnomAD v4 |
| 12 | g.120739220_120739221delinsAG | CA2067555749 | ACADS | c.1086+24_1086+25delinsAG (n.1086+24_1086+25delinsAG) c.1074+24_1074+25delinsAG (n.1074+24_1074+25delinsAG) | |
| 12 | g.120739221G>A | CA244495273 | ACADS | c.1086+25G>A (n.1086+25G>A) c.1074+25G>A (n.1074+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739221G= | CA2067555750 | ACADS | c.1086+25G= (n.1086+25G=) c.1074+25G= (n.1074+25G=) | |
| 12 | g.120739221G>T | CA2621370248 | ACADS | c.1086+25G>T (n.1086+25G>T) c.1074+25G>T (n.1074+25G>T) | gnomAD v4 |
| 12 | g.120739225dup | CA608059972 | ACADS | c.1086+29dup (n.1086+29dup) c.1074+29dup (n.1074+29dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739225del | CA244495272 | ACADS | c.1086+29del (n.1086+29del) c.1074+29del (n.1074+29del) | dbSNP |
| 12 | g.120739222G>A | CA2067555752 | ACADS | c.1086+26G>A (n.1086+26G>A) c.1074+26G>A (n.1074+26G>A) | dbSNP gnomAD v4 |
| 12 | g.120739222G= | CA2067555751 | ACADS | c.1086+26G= (n.1086+26G=) c.1074+26G= (n.1074+26G=) | |
| 12 | g.120739223G>A | CA2067555754 | ACADS | c.1086+27G>A (n.1086+27G>A) c.1074+27G>A (n.1074+27G>A) | dbSNP |
| 12 | g.120739223G= | CA2067555753 | ACADS | c.1086+27G= (n.1086+27G=) c.1074+27G= (n.1074+27G=) | |
| 12 | g.120739224G>A | CA608059973 | ACADS | c.1086+28G>A (n.1086+28G>A) c.1074+28G>A (n.1074+28G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739224G= | CA2067555755 | ACADS | c.1086+28G= (n.1086+28G=) c.1074+28G= (n.1074+28G=) | |
| 12 | g.120739225G>A | CA684419006 | ACADS | c.1086+29G>A (n.1086+29G>A) c.1074+29G>A (n.1074+29G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739225G= | CA2067555756 | ACADS | c.1086+29G= (n.1086+29G=) c.1074+29G= (n.1074+29G=) | |
| 12 | g.120739225G>T | CA6831209 | ACADS | c.1086+29G>T (n.1086+29G>T) c.1074+29G>T (n.1074+29G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739226C>A | CA684419012 | ACADS | c.1086+30C>A (n.1086+30C>A) c.1074+30C>A (n.1074+30C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739226C= | CA2067555757 | ACADS | c.1086+30C= (n.1086+30C=) c.1074+30C= (n.1074+30C=) | |
| 12 | g.120739226C>T | CA608059974 | ACADS | c.1086+30C>T (n.1086+30C>T) c.1074+30C>T (n.1074+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739232_120739246del | CA2575321545 | ACADS | c.1086+36_1087-50del (n.1086+36_1087-50del) c.1074+36_1075-50del (n.1074+36_1075-50del) | gnomAD v4 |
| 12 | g.120739227C= | CA2067555758 | ACADS | c.1086+31C= (n.1086+31C=) c.1074+31C= (n.1074+31C=) | |
| 12 | g.120739227C>T | CA6831210 | ACADS | c.1086+31C>T (n.1086+31C>T) c.1074+31C>T (n.1074+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739229G>C | CA2067555760 | ACADS | c.1086+33G>C (n.1086+33G>C) c.1074+33G>C (n.1074+33G>C) | dbSNP |
| 12 | g.120739229G= | CA2067555759 | ACADS | c.1086+33G= (n.1086+33G=) c.1074+33G= (n.1074+33G=) | |
| 12 | g.120739229G>T | CA655233547 | ACADS | c.1086+33G>T (n.1086+33G>T) c.1074+33G>T (n.1074+33G>T) | COSMIC |
| 12 | g.120739230C= | CA2067555761 | ACADS | c.1086+34C= (n.1086+34C=) c.1074+34C= (n.1074+34C=) | |
| 12 | g.120739230C>T | CA6831211 | ACADS | c.1086+34C>T (n.1086+34C>T) c.1074+34C>T (n.1074+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739231T>A | CA2575321546 | ACADS | c.1086+35T>A (n.1086+35T>A) c.1074+35T>A (n.1074+35T>A) | |
| 12 | g.120739231T>C | CA608059975 | ACADS | c.1086+35T>C (n.1086+35T>C) c.1074+35T>C (n.1074+35T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739231T= | CA2067555762 | ACADS | c.1086+35T= (n.1086+35T=) c.1074+35T= (n.1074+35T=) | |
| 12 | g.120739232G>A | CA952544214 | ACADS | c.1086+36G>A (n.1086+36G>A) c.1074+36G>A (n.1074+36G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739232G= | CA2067555763 | ACADS | c.1086+36G= (n.1086+36G=) c.1074+36G= (n.1074+36G=) | |
| 12 | g.120739233C= | CA2067555764 | ACADS | c.1086+37C= (n.1086+37C=) c.1074+37C= (n.1074+37C=) | |
| 12 | g.120739233C>T | CA608059976 | ACADS | c.1086+37C>T (n.1086+37C>T) c.1074+37C>T (n.1074+37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739236C= | CA2067555765 | ACADS | c.1086+40C= (n.1086+40C=) c.1074+40C= (n.1074+40C=) | |
| 12 | g.120739236C>T | CA2067555766 | ACADS | c.1086+40C>T (n.1086+40C>T) c.1074+40C>T (n.1074+40C>T) | dbSNP |
| 12 | g.120739238del | CA2575321547 | ACADS | c.1086+42del (n.1086+42del) c.1074+42del (n.1074+42del) | |
| 12 | g.120739238T>C | CA952544226 | ACADS | c.1086+42T>C (n.1086+42T>C) c.1074+42T>C (n.1074+42T>C) | gnomAD v3 gnomAD v4 |
| 12 | g.120739241C>A | CA2621370258 | ACADS | c.1086+45C>A (n.1086+45C>A) c.1074+45C>A (n.1074+45C>A) | gnomAD v4 |
| 12 | g.120739243A= | CA2067555767 | ACADS | c.1086+47A= (n.1086+47A=) c.1074+47A= (n.1074+47A=) | |
| 12 | g.120739243A>G | CA608059977 | ACADS | c.1086+47A>G (n.1086+47A>G) c.1074+47A>G (n.1074+47A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739244G>A | CA244495280 | ACADS | c.1086+48G>A (n.1086+48G>A) c.1074+48G>A (n.1074+48G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739244G= | CA2067555768 | ACADS | c.1086+48G= (n.1086+48G=) c.1074+48G= (n.1074+48G=) | |
| 12 | g.120739246_120739254delinsTTTCCCCAC | CA2067555769 | ACADS | c.1087-50_1087-42delinsTTTCCCCAC (n.1087-50_1087-42delinsTTTCCCCAC) c.1075-50_1075-42delinsTTTCCCCAC (n.1075-50_1075-42delinsTTTCCCCAC) | |
| 12 | g.120739247T>A | CA608059978 | ACADS | c.1087-49T>A (n.1087-49T>A) c.1075-49T>A (n.1075-49T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739247T= | CA2067555771 | ACADS | c.1087-49T= (n.1087-49T=) c.1075-49T= (n.1075-49T=) | |
| 12 | g.120739247_120739254del | CA2067555770 | ACADS | c.1087-49_1087-42del (n.1087-49_1087-42del) c.1075-49_1075-42del (n.1075-49_1075-42del) | dbSNP |
| 12 | g.120739248T>G | CA2621370264 | ACADS | c.1087-48T>G (n.1087-48T>G) c.1075-48T>G (n.1075-48T>G) | gnomAD v4 |