UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120739309_120739339dup | CA2621370313 | ACADS | c.1100_1130dup (p.Ala378GlyfsTer22) c.1088_1118dup (p.Ala374GlyfsTer22) | gnomAD v4 |
| 12 | g.120739314G>A | CA312230 | ACADS | c.1105G>A (p.Gly369Ser) c.1093G>A (p.Gly365Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.120739314G>C | CA386601793 | ACADS | c.1105G>C (p.Gly369Arg) c.1093G>C (p.Gly365Arg) | |
| 12 | g.120739314G= | CA2067555800 | ACADS | c.1105G= (p.Gly369=) c.1093G= (p.Gly365=) | |
| 12 | g.120739314G>T | CA386601792 | ACADS | c.1105G>T (p.Gly369Cys) c.1093G>T (p.Gly365Cys) | |
| 12 | g.120739315G>A | CA6831223 | ACADS | c.1106G>A (p.Gly369Asp) c.1094G>A (p.Gly365Asp) | dbSNP ExAC gnomAD v2 COSMIC |
| 12 | g.120739315G>C | CA386601794 | ACADS | c.1106G>C (p.Gly369Ala) c.1094G>C (p.Gly365Ala) | |
| 12 | g.120739315G= | CA2067555801 | ACADS | c.1106G= (p.Gly369=) c.1094G= (p.Gly365=) | |
| 12 | g.120739315G>T | CA386601795 | ACADS | c.1106G>T (p.Gly369Val) c.1094G>T (p.Gly365Val) | |
| 12 | g.120739316C>A | CA482146876 | ACADS | c.1107C>A (p.Gly369=) c.1095C>A (p.Gly365=) | COSMIC |
| 12 | g.120739316C>G | CA482146877 | ACADS | c.1107C>G (p.Gly369=) c.1095C>G (p.Gly365=) | |
| 12 | g.120739316C>T | CA482146879 | ACADS | c.1107C>T (p.Gly369=) c.1095C>T (p.Gly365=) | |
| 12 | g.120739317A= | CA2067555802 | ACADS | c.1108A= (p.Met370=) c.1096A= (p.Met366=) | |
| 12 | g.120739317A>C | CA386601796 | ACADS | c.1108A>C (p.Met370Leu) c.1096A>C (p.Met366Leu) | |
| 12 | g.120739317A>G | CA312232 | ACADS | c.1108A>G (p.Met370Val) c.1096A>G (p.Met366Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739317A>T | CA386601797 | ACADS | c.1108A>T (p.Met370Leu) c.1096A>T (p.Met366Leu) | |
| 12 | g.120739318T>A | CA386601798 | ACADS | c.1109T>A (p.Met370Lys) c.1097T>A (p.Met366Lys) | dbSNP |
| 12 | g.120739318T>C | CA386601799 | ACADS | c.1109T>C (p.Met370Thr) c.1097T>C (p.Met366Thr) | |
| 12 | g.120739318T>G | CA386601800 | ACADS | c.1109T>G (p.Met370Arg) c.1097T>G (p.Met366Arg) | |
| 12 | g.120739318T= | CA2067555803 | ACADS | c.1109T= (p.Met370=) c.1097T= (p.Met366=) | |
| 12 | g.120739318_120739319delinsTG | CA2067555804 | ACADS | c.1109_1110delinsTG (p.Met370=) c.1097_1098delinsTG (p.Met366=) | |
| 12 | g.120739319G>A | CA386601801 | ACADS | c.1110G>A (p.Met370Ile) c.1098G>A (p.Met366Ile) | |
| 12 | g.120739319G>C | CA386601802 | ACADS | c.1110G>C (p.Met370Ile) c.1098G>C (p.Met366Ile) | dbSNP |
| 12 | g.120739319G= | CA2067555806 | ACADS | c.1110G= (p.Met370=) c.1098G= (p.Met366=) | |
| 12 | g.120739319G>T | CA386601803 | ACADS | c.1110G>T (p.Met370Ile) c.1098G>T (p.Met366Ile) | |
| 12 | g.120739321del | CA2067555805 | ACADS | c.1112del (p.Gly371AlafsTer3) c.1100del (p.Gly367AlafsTer3) | dbSNP |
| 12 | g.120739320G>A | CA386601806 | ACADS | c.1111G>A (p.Gly371Ser) c.1099G>A (p.Gly367Ser) | |
| 12 | g.120739320G>C | CA386601805 | ACADS | c.1111G>C (p.Gly371Arg) c.1099G>C (p.Gly367Arg) | |
| 12 | g.120739320G>T | CA386601804 | ACADS | c.1111G>T (p.Gly371Cys) c.1099G>T (p.Gly367Cys) | gnomAD v4 |
| 12 | g.120739321G>A | CA386601807 | ACADS | c.1112G>A (p.Gly371Asp) c.1100G>A (p.Gly367Asp) | gnomAD v4 |
| 12 | g.120739321G>C | CA386601808 | ACADS | c.1112G>C (p.Gly371Ala) c.1100G>C (p.Gly367Ala) | ClinVar |
| 12 | g.120739321G= | CA2067555807 | ACADS | c.1112G= (p.Gly371=) c.1100G= (p.Gly367=) | |
| 12 | g.120739321G>T | CA312234 | ACADS | c.1112G>T (p.Gly371Val) c.1100G>T (p.Gly367Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739322C>A | CA482146881 | ACADS | c.1113C>A (p.Gly371=) c.1101C>A (p.Gly367=) | |
| 12 | g.120739322C>G | CA482146883 | ACADS | c.1113C>G (p.Gly371=) c.1101C>G (p.Gly367=) | gnomAD v4 |
| 12 | g.120739322C>T | CA482146884 | ACADS | c.1113C>T (p.Gly371=) c.1101C>T (p.Gly367=) | |
| 12 | g.120739323T>A | CA386601809 | ACADS | c.1114T>A (p.Tyr372Asn) c.1102T>A (p.Tyr368Asn) | |
| 12 | g.120739323T>C | CA386601810 | ACADS | c.1114T>C (p.Tyr372His) c.1102T>C (p.Tyr368His) | gnomAD v4 |
| 12 | g.120739323T>G | CA386601811 | ACADS | c.1114T>G (p.Tyr372Asp) c.1102T>G (p.Tyr368Asp) | |
| 12 | g.120739324A= | CA2067555808 | ACADS | c.1115A= (p.Tyr372=) c.1103A= (p.Tyr368=) | |
| 12 | g.120739324A>C | CA386601812 | ACADS | c.1115A>C (p.Tyr372Ser) c.1103A>C (p.Tyr368Ser) | gnomAD v4 |
| 12 | g.120739324A>G | CA386601813 | ACADS | c.1115A>G (p.Tyr372Cys) c.1103A>G (p.Tyr368Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739324A>T | CA386601814 | ACADS | c.1115A>T (p.Tyr372Phe) c.1103A>T (p.Tyr368Phe) | |
| 12 | g.120739325C>A | CA386601815 | ACADS | c.1116C>A (p.Tyr372Ter) c.1104C>A (p.Tyr368Ter) | |
| 12 | g.120739325C= | CA2067555809 | ACADS | c.1116C= (p.Tyr372=) c.1104C= (p.Tyr368=) | |
| 12 | g.120739325C>G | CA386601816 | ACADS | c.1116C>G (p.Tyr372Ter) c.1104C>G (p.Tyr368Ter) | |
| 12 | g.120739325C>T | CA244495411 | ACADS | c.1116C>T (p.Tyr372=) c.1104C>T (p.Tyr368=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739327_120739357del | CA645590091 | ACADS | c.1118_1148del (p.Val373AlafsTer19) c.1106_1136del (p.Val369AlafsTer19) | COSMIC |
| 12 | g.120739326G>A | CA6831224 | ACADS | c.1117G>A (p.Val373Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739326G>C | CA386601817 | ACADS | c.1117G>C (p.Val373Leu) c.1105G>C (p.Val369Leu) | |
| 12 | g.120739326G= | CA2067555810 | ACADS | c.1117G= (p.Val373=) c.1105G= (p.Val369=) | |
| 12 | g.120739326G>T | CA386601818 | ACADS | c.1117G>T (p.Val373Leu) c.1105G>T (p.Val369Leu) | |
| 12 | g.120739327T>A | CA386601821 | ACADS | c.1118T>A (p.Val373Glu) c.1106T>A (p.Val369Glu) | |
| 12 | g.120739327T>C | CA386601820 | ACADS | c.1118T>C (p.Val373Ala) c.1106T>C (p.Val369Ala) | |
| 12 | g.120739327T>G | CA386601819 | ACADS | c.1118T>G (p.Val373Gly) c.1106T>G (p.Val369Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739327T= | CA2067555811 | ACADS | c.1118T= (p.Val373=) c.1106T= (p.Val369=) | |
| 12 | g.120739328G>A | CA482146885 | ACADS | c.1119G>A (p.Val373=) c.1107G>A (p.Val369=) | gnomAD v4 |
| 12 | g.120739328G>C | CA482146886 | ACADS | c.1119G>C (p.Val373=) c.1107G>C (p.Val369=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739328G= | CA2067555812 | ACADS | c.1119G= (p.Val373=) c.1107G= (p.Val369=) | |
| 12 | g.120739328G>T | CA482146887 | ACADS | c.1119G>T (p.Val373=) c.1107G>T (p.Val369=) | |
| 12 | g.120739329A= | CA2067555813 | ACADS | c.1120A= (p.Thr374=) c.1108A= (p.Thr370=) | |
| 12 | g.120739329A>C | CA386601822 | ACADS | c.1120A>C (p.Thr374Pro) c.1108A>C (p.Thr370Pro) | |
| 12 | g.120739329A>G | CA386601823 | ACADS | c.1120A>G (p.Thr374Ala) c.1108A>G (p.Thr370Ala) | dbSNP |
| 12 | g.120739329A>T | CA386601824 | ACADS | c.1120A>T (p.Thr374Ser) c.1108A>T (p.Thr370Ser) | |
| 12 | g.120739330C>A | CA386601825 | ACADS | c.1121C>A (p.Thr374Lys) c.1109C>A (p.Thr370Lys) | |
| 12 | g.120739330C>G | CA386601826 | ACADS | c.1121C>G (p.Thr374Arg) c.1109C>G (p.Thr370Arg) | |
| 12 | g.120739330C>T | CA386601827 | ACADS | c.1121C>T (p.Thr374Ile) c.1109C>T (p.Thr370Ile) | |
| 12 | g.120739331A>C | CA482146890 | ACADS | c.1122A>C (p.Thr374=) c.1110A>C (p.Thr370=) | |
| 12 | g.120739331A>G | CA482146888 | ACADS | c.1122A>G (p.Thr374=) c.1110A>G (p.Thr370=) | |
| 12 | g.120739331A>T | CA482146889 | ACADS | c.1122A>T (p.Thr374=) c.1110A>T (p.Thr370=) | |
| 12 | g.120739334_120739335del | CA2621370343 | ACADS | c.1125_1126del (p.Glu375AspfsTer14) c.1113_1114del (p.Glu371AspfsTer14) | gnomAD v4 |
| 12 | g.120739332G>A | CA386601828 | ACADS | c.1123G>A (p.Glu375Lys) c.1111G>A (p.Glu371Lys) | |
| 12 | g.120739332G>C | CA386601829 | ACADS | c.1123G>C (p.Glu375Gln) c.1111G>C (p.Glu371Gln) | |
| 12 | g.120739332G>T | CA386601830 | ACADS | c.1123G>T (p.Glu375Ter) c.1111G>T (p.Glu371Ter) | |
| 12 | g.120739333A>C | CA386601831 | ACADS | c.1124A>C (p.Glu375Ala) c.1112A>C (p.Glu371Ala) | |
| 12 | g.120739333A>G | CA386601832 | ACADS | c.1124A>G (p.Glu375Gly) c.1112A>G (p.Glu371Gly) | |
| 12 | g.120739333A>T | CA386601833 | ACADS | c.1124A>T (p.Glu375Val) c.1112A>T (p.Glu371Val) | |
| 12 | g.120739334G>A | CA482146891 | ACADS | c.1125G>A (p.Glu375=) c.1113G>A (p.Glu371=) | |
| 12 | g.120739334G>C | CA386601834 | ACADS | c.1125G>C (p.Glu375Asp) c.1113G>C (p.Glu371Asp) | |
| 12 | g.120739334G>T | CA386601835 | ACADS | c.1125G>T (p.Glu375Asp) c.1113G>T (p.Glu371Asp) | |
| 12 | g.120739335A>C | CA386601836 | ACADS | c.1126A>C (p.Met376Leu) c.1114A>C (p.Met372Leu) | |
| 12 | g.120739335A>G | CA386601837 | ACADS | c.1126A>G (p.Met376Val) c.1114A>G (p.Met372Val) | |
| 12 | g.120739335A>T | CA386601838 | ACADS | c.1126A>T (p.Met376Leu) c.1114A>T (p.Met372Leu) | |
| 12 | g.120739336T>A | CA386601839 | ACADS | c.1127T>A (p.Met376Lys) c.1115T>A (p.Met372Lys) | |
| 12 | g.120739336T>C | CA386601840 | ACADS | c.1127T>C (p.Met376Thr) c.1115T>C (p.Met372Thr) | |
| 12 | g.120739336T>G | CA386601841 | ACADS | c.1127T>G (p.Met376Arg) c.1115T>G (p.Met372Arg) | |
| 12 | g.120739337G>A | CA386601842 | ACADS | c.1128G>A (p.Met376Ile) c.1116G>A (p.Met372Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739337G>C | CA386601843 | ACADS | c.1128G>C (p.Met376Ile) c.1116G>C (p.Met372Ile) | |
| 12 | g.120739337G= | CA2067555814 | ACADS | c.1128G= (p.Met376=) c.1116G= (p.Met372=) | |
| 12 | g.120739337G>T | CA386601844 | ACADS | c.1128G>T (p.Met376Ile) c.1116G>T (p.Met372Ile) | dbSNP gnomAD v2 |
| 12 | g.120739338C>A | CA386601845 | ACADS | c.1129C>A (p.Pro377Thr) c.1117C>A (p.Pro373Thr) | gnomAD v4 |
| 12 | g.120739338C= | CA2067555815 | ACADS | c.1129C= (p.Pro377=) c.1117C= (p.Pro373=) | |
| 12 | g.120739338C>G | CA386601846 | ACADS | c.1129C>G (p.Pro377Ala) c.1117C>G (p.Pro373Ala) | COSMIC |
| 12 | g.120739338C>T | CA244495432 | ACADS | c.1129C>T (p.Pro377Ser) c.1117C>T (p.Pro373Ser) | dbSNP |
| 12 | g.120739339del | CA2575321552 | ACADS | c.1130del (p.Pro377ArgfsTer25) c.1118del (p.Pro373ArgfsTer25) | |
| 12 | g.120739339C>A | CA386601848 | ACADS | c.1130C>A (p.Pro377Gln) c.1118C>A (p.Pro373Gln) | |
| 12 | g.120739339C= | CA2067555816 | ACADS | c.1130C= (p.Pro377=) c.1118C= (p.Pro373=) | |
| 12 | g.120739339C>G | CA386601847 | ACADS | c.1130C>G (p.Pro377Arg) c.1118C>G (p.Pro373Arg) | |
| 12 | g.120739339C>T | CA6831225 | ACADS | c.1130C>T (p.Pro377Leu) c.1118C>T (p.Pro373Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739340G>A | CA6831226 | ACADS | c.1131G>A (p.Pro377=) c.1119G>A (p.Pro373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739340G>C | CA482146895 | ACADS | c.1131G>C (p.Pro377=) c.1119G>C (p.Pro373=) | gnomAD v4 |
| 12 | g.120739340G= | CA2067555817 | ACADS | c.1131G= (p.Pro377=) c.1119G= (p.Pro373=) | |
| 12 | g.120739340G>T | CA482146897 | ACADS | c.1131G>T (p.Pro377=) c.1119G>T (p.Pro373=) | |
| 12 | g.120739341del | CA2740098025 | ACADS | c.1132del (p.Ala378GlnfsTer24) c.1120del (p.Ala374GlnfsTer24) | ClinVar |
| 12 | g.120739341G>A | CA386601849 | ACADS | c.1132G>A (p.Ala378Thr) c.1120G>A (p.Ala374Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739341G>C | CA386601850 | ACADS | c.1132G>C (p.Ala378Pro) c.1120G>C (p.Ala374Pro) | |
| 12 | g.120739341G= | CA2067555818 | ACADS | c.1132G= (p.Ala378=) c.1120G= (p.Ala374=) | |
| 12 | g.120739341G>T | CA386601851 | ACADS | c.1132G>T (p.Ala378Ser) c.1120G>T (p.Ala374Ser) | |
| 12 | g.120739342C>A | CA386601852 | ACADS | c.1133C>A (p.Ala378Glu) c.1121C>A (p.Ala374Glu) | |
| 12 | g.120739342C= | CA2067555819 | ACADS | c.1133C= (p.Ala378=) c.1121C= (p.Ala374=) | |
| 12 | g.120739342C>G | CA386601853 | ACADS | c.1133C>G (p.Ala378Gly) c.1121C>G (p.Ala374Gly) | |
| 12 | g.120739342C>T | CA386601854 | ACADS | c.1133C>T (p.Ala378Val) c.1121C>T (p.Ala374Val) | dbSNP gnomAD v2 |
| 12 | g.120739343del | CA952535072 | ACADS | c.1134del (p.Glu379SerfsTer23) c.1122del (p.Glu375SerfsTer23) | gnomAD v3 gnomAD v4 |
| 12 | g.120739343A>C | CA482146899 | ACADS | c.1134A>C (p.Ala378=) c.1122A>C (p.Ala374=) | |
| 12 | g.120739343A>G | CA482146900 | ACADS | c.1134A>G (p.Ala378=) c.1122A>G (p.Ala374=) | |
| 12 | g.120739343A>T | CA482146901 | ACADS | c.1134A>T (p.Ala378=) c.1122A>T (p.Ala374=) | |
| 12 | g.120739344G>A | CA386601855 | ACADS | c.1135G>A (p.Glu379Lys) c.1123G>A (p.Glu375Lys) | gnomAD v4 |
| 12 | g.120739344G>C | CA244495448 | ACADS | c.1135G>C (p.Glu379Gln) c.1123G>C (p.Glu375Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739344G= | CA2067555820 | ACADS | c.1135G= (p.Glu379=) c.1123G= (p.Glu375=) | |
| 12 | g.120739344G>T | CA386601856 | ACADS | c.1135G>T (p.Glu379Ter) c.1123G>T (p.Glu375Ter) | |
| 12 | g.120739345A>C | CA386601857 | ACADS | c.1136A>C (p.Glu379Ala) c.1124A>C (p.Glu375Ala) | |
| 12 | g.120739345A>G | CA386601858 | ACADS | c.1136A>G (p.Glu379Gly) c.1124A>G (p.Glu375Gly) | |
| 12 | g.120739345A>T | CA386601859 | ACADS | c.1136A>T (p.Glu379Val) c.1124A>T (p.Glu375Val) | |
| 12 | g.120739346G>A | CA482146903 | ACADS | c.1137G>A (p.Glu379=) c.1125G>A (p.Glu375=) | |
| 12 | g.120739346G>C | CA386601861 | ACADS | c.1137G>C (p.Glu379Asp) c.1125G>C (p.Glu375Asp) | |
| 12 | g.120739346G>T | CA386601860 | ACADS | c.1137G>T (p.Glu379Asp) c.1125G>T (p.Glu375Asp) | |
| 12 | g.120739347C>A | CA482146905 | ACADS | c.1138C>A (p.Arg380=) c.1126C>A (p.Arg376=) | |
| 12 | g.120739347C= | CA2067555821 | ACADS | c.1138C= (p.Arg380=) c.1126C= (p.Arg376=) | |
| 12 | g.120739347C>G | CA312236 | ACADS | c.1138C>G (p.Arg380Gly) c.1126C>G (p.Arg376Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739347C>T | CA252889 | ACADS | c.1138C>T (p.Arg380Trp) c.1126C>T (p.Arg376Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739348G>A | CA6831227 | ACADS | c.1139G>A (p.Arg380Gln) c.1127G>A (p.Arg376Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739348G>C | CA386601863 | ACADS | c.1139G>C (p.Arg380Pro) c.1127G>C (p.Arg376Pro) | |
| 12 | g.120739348G= | CA2067555822 | ACADS | c.1139G= (p.Arg380=) c.1127G= (p.Arg376=) | |
| 12 | g.120739348G>T | CA386601862 | ACADS | c.1139G>T (p.Arg380Leu) c.1127G>T (p.Arg376Leu) | |
| 12 | g.120739349G>A | CA482146908 | ACADS | c.1140G>A (p.Arg380=) c.1128G>A (p.Arg376=) | |
| 12 | g.120739349G>C | CA482146909 | ACADS | c.1140G>C (p.Arg380=) c.1128G>C (p.Arg376=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739349G= | CA2067555823 | ACADS | c.1140G= (p.Arg380=) c.1128G= (p.Arg376=) | |
| 12 | g.120739349G>T | CA482146910 | ACADS | c.1140G>T (p.Arg380=) c.1128G>T (p.Arg376=) | gnomAD v4 |
| 12 | g.120739350C>A | CA386601864 | ACADS | c.1141C>A (p.His381Asn) c.1129C>A (p.His377Asn) | ClinVar dbSNP |
| 12 | g.120739350C= | CA2067555824 | ACADS | c.1141C= (p.His381=) c.1129C= (p.His377=) | |
| 12 | g.120739350C>G | CA386601865 | ACADS | c.1141C>G (p.His381Asp) c.1129C>G (p.His377Asp) | |
| 12 | g.120739350C>T | CA386601866 | ACADS | c.1141C>T (p.His381Tyr) c.1129C>T (p.His377Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739351A>C | CA386601867 | ACADS | c.1142A>C (p.His381Pro) c.1130A>C (p.His377Pro) | |
| 12 | g.120739351A>G | CA386601868 | ACADS | c.1142A>G (p.His381Arg) c.1130A>G (p.His377Arg) | |
| 12 | g.120739351A>T | CA386601869 | ACADS | c.1142A>T (p.His381Leu) c.1130A>T (p.His377Leu) | dbSNP |
| 12 | g.120739352C>A | CA386601870 | ACADS | c.1143C>A (p.His381Gln) c.1131C>A (p.His377Gln) | |
| 12 | g.120739352C= | CA2067555825 | ACADS | c.1143C= (p.His381=) c.1131C= (p.His377=) | |
| 12 | g.120739352C>G | CA386601871 | ACADS | c.1143C>G (p.His381Gln) c.1131C>G (p.His377Gln) | |
| 12 | g.120739352C>T | CA482146913 | ACADS | c.1143C>T (p.His381=) c.1131C>T (p.His377=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739353T>A | CA386601872 | ACADS | c.1144T>A (p.Tyr382Asn) c.1132T>A (p.Tyr378Asn) | |
| 12 | g.120739353T>C | CA386601873 | ACADS | c.1144T>C (p.Tyr382His) c.1132T>C (p.Tyr378His) | |
| 12 | g.120739353T>G | CA386601874 | ACADS | c.1144T>G (p.Tyr382Asp) c.1132T>G (p.Tyr378Asp) | gnomAD v4 |
| 12 | g.120739354A= | CA2067555826 | ACADS | c.1145A= (p.Tyr382=) c.1133A= (p.Tyr378=) | |
| 12 | g.120739354A>C | CA386601877 | ACADS | c.1145A>C (p.Tyr382Ser) c.1133A>C (p.Tyr378Ser) | dbSNP |
| 12 | g.120739354A>G | CA386601876 | ACADS | c.1145A>G (p.Tyr382Cys) c.1133A>G (p.Tyr378Cys) | |
| 12 | g.120739354A>T | CA386601875 | ACADS | c.1145A>T (p.Tyr382Phe) c.1133A>T (p.Tyr378Phe) | |
| 12 | g.120739355C>A | CA386601878 | ACADS | c.1146C>A (p.Tyr382Ter) c.1134C>A (p.Tyr378Ter) | ClinVar dbSNP |
| 12 | g.120739355C= | CA2067555827 | ACADS | c.1146C= (p.Tyr382=) c.1134C= (p.Tyr378=) | |
| 12 | g.120739355C>G | CA386601879 | ACADS | c.1146C>G (p.Tyr382Ter) c.1134C>G (p.Tyr378Ter) | gnomAD v4 |
| 12 | g.120739355C>T | CA482146914 | ACADS | c.1146C>T (p.Tyr382=) c.1134C>T (p.Tyr378=) | |
| 12 | g.120739356C>A | CA386601880 | ACADS | c.1147C>A (p.Arg383Ser) c.1135C>A (p.Arg379Ser) | |
| 12 | g.120739356C= | CA2067555828 | ACADS | c.1147C= (p.Arg383=) c.1135C= (p.Arg379=) | |
| 12 | g.120739356C>G | CA386601881 | ACADS | c.1147C>G (p.Arg383Gly) c.1135C>G (p.Arg379Gly) | |
| 12 | g.120739356C>T | CA252882 | ACADS | c.1147C>T (p.Arg383Cys) c.1135C>T (p.Arg379Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739357G>A | CA244495485 | ACADS | c.1148G>A (p.Arg383His) c.1136G>A (p.Arg379His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739357G>C | CA386601882 | ACADS | c.1148G>C (p.Arg383Pro) c.1136G>C (p.Arg379Pro) | |
| 12 | g.120739357G= | CA2067555829 | ACADS | c.1148G= (p.Arg383=) c.1136G= (p.Arg379=) | |
| 12 | g.120739357G>T | CA386601883 | ACADS | c.1148G>T (p.Arg383Leu) c.1136G>T (p.Arg379Leu) | ClinVar dbSNP |
| 12 | g.120739357_120739359del | CA2621370385 | ACADS | c.1148_1150del (p.Arg383_Asp384delinsHis) c.1136_1138del (p.Arg379_Asp380delinsHis) | gnomAD v4 |
| 12 | g.120739358C>A | CA482146916 | ACADS | c.1149C>A (p.Arg383=) c.1137C>A (p.Arg379=) | |
| 12 | g.120739358C= | CA2067555830 | ACADS | c.1149C= (p.Arg383=) c.1137C= (p.Arg379=) | |
| 12 | g.120739358C>G | CA482146915 | ACADS | c.1149C>G (p.Arg383=) c.1137C>G (p.Arg379=) | |
| 12 | g.120739358C>T | CA6831228 | ACADS | c.1149C>T (p.Arg383=) c.1137C>T (p.Arg379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739359G>A | CA386601884 | ACADS | c.1150G>A (p.Asp384Asn) c.1138G>A (p.Asp380Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.120739359G>C | CA386601885 | ACADS | c.1150G>C (p.Asp384His) c.1138G>C (p.Asp380His) | |
| 12 | g.120739359G= | CA2067555831 | ACADS | c.1150G= (p.Asp384=) c.1138G= (p.Asp380=) | |
| 12 | g.120739359G>T | CA386601886 | ACADS | c.1150G>T (p.Asp384Tyr) c.1138G>T (p.Asp380Tyr) | gnomAD v4 |
| 12 | g.120739360A>C | CA386601889 | ACADS | c.1151A>C (p.Asp384Ala) c.1139A>C (p.Asp380Ala) | |
| 12 | g.120739360A>G | CA386601888 | ACADS | c.1151A>G (p.Asp384Gly) c.1139A>G (p.Asp380Gly) | |
| 12 | g.120739360A>T | CA386601887 | ACADS | c.1151A>T (p.Asp384Val) c.1139A>T (p.Asp380Val) | |
| 12 | g.120739361C>A | CA386601890 | ACADS | c.1152C>A (p.Asp384Glu) c.1140C>A (p.Asp380Glu) | |
| 12 | g.120739361C= | CA2067555832 | ACADS | c.1152C= (p.Asp384=) c.1140C= (p.Asp380=) | |
| 12 | g.120739361C>G | CA386601891 | ACADS | c.1152C>G (p.Asp384Glu) c.1140C>G (p.Asp380Glu) | |
| 12 | g.120739361C>T | CA6831229 | ACADS | c.1152C>T (p.Asp384=) c.1140C>T (p.Asp380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739362G>A | CA312238 | ACADS | c.1153G>A (p.Ala385Thr) c.1141G>A (p.Ala381Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739362G>C | CA386601892 | ACADS | c.1153G>C (p.Ala385Pro) c.1141G>C (p.Ala381Pro) | |
| 12 | g.120739362G= | CA2067555833 | ACADS | c.1153G= (p.Ala385=) c.1141G= (p.Ala381=) | |
| 12 | g.120739362G>T | CA6831230 | ACADS | c.1153G>T (p.Ala385Ser) c.1141G>T (p.Ala381Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739363C>A | CA386601893 | ACADS | c.1154C>A (p.Ala385Asp) c.1142C>A (p.Ala381Asp) | gnomAD v4 |
| 12 | g.120739363C>G | CA386601894 | ACADS | c.1154C>G (p.Ala385Gly) c.1142C>G (p.Ala381Gly) | |
| 12 | g.120739363C>T | CA386601895 | ACADS | c.1154C>T (p.Ala385Val) c.1142C>T (p.Ala381Val) | gnomAD v4 |
| 12 | g.120739365del | CA2575321553 | ACADS | c.1156del (p.Arg386AlafsTer16) c.1144del (p.Arg382AlafsTer16) | |
| 12 | g.120739364C>A | CA482146917 | ACADS | c.1155C>A (p.Ala385=) c.1143C>A (p.Ala381=) | |
| 12 | g.120739364C>G | CA482146919 | ACADS | c.1155C>G (p.Ala385=) c.1143C>G (p.Ala381=) | dbSNP gnomAD v4 |
| 12 | g.120739364C>T | CA482146918 | ACADS | c.1155C>T (p.Ala385=) c.1143C>T (p.Ala381=) | |
| 12 | g.120739365C>A | CA386601896 | ACADS | c.1156C>A (p.Arg386Ser) c.1144C>A (p.Arg382Ser) | |
| 12 | g.120739365C= | CA2067555834 | ACADS | c.1156C= (p.Arg386=) c.1144C= (p.Arg382=) | |
| 12 | g.120739365C>G | CA386601897 | ACADS | c.1156C>G (p.Arg386Gly) c.1144C>G (p.Arg382Gly) | |
| 12 | g.120739365C>T | CA312240 | ACADS | c.1156C>T (p.Arg386Cys) c.1144C>T (p.Arg382Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.120739366G>A | CA312242 | ACADS | c.1157G>A (p.Arg386His) c.1145G>A (p.Arg382His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739366G>C | CA386601899 | ACADS | c.1157G>C (p.Arg386Pro) c.1145G>C (p.Arg382Pro) | |
| 12 | g.120739366G= | CA2067555835 | ACADS | c.1157G= (p.Arg386=) c.1145G= (p.Arg382=) | |
| 12 | g.120739366G>T | CA386601898 | ACADS | c.1157G>T (p.Arg386Leu) c.1145G>T (p.Arg382Leu) | |
| 12 | g.120739367C>A | CA482146920 | ACADS | c.1158C>A (p.Arg386=) c.1146C>A (p.Arg382=) | |
| 12 | g.120739367C>G | CA482146921 | ACADS | c.1158C>G (p.Arg386=) c.1146C>G (p.Arg382=) | |
| 12 | g.120739367C>T | CA482146922 | ACADS | c.1158C>T (p.Arg386=) c.1146C>T (p.Arg382=) | |
| 12 | g.120739368A>C | CA386601900 | ACADS | c.1159A>C (p.Ile387Leu) c.1147A>C (p.Ile383Leu) | |
| 12 | g.120739368A>G | CA386601901 | ACADS | c.1159A>G (p.Ile387Val) c.1147A>G (p.Ile383Val) | dbSNP gnomAD v4 |
| 12 | g.120739368A>T | CA386601902 | ACADS | c.1159A>T (p.Ile387Phe) c.1147A>T (p.Ile383Phe) | |
| 12 | g.120739369T>A | CA386601903 | ACADS | c.1160T>A (p.Ile387Asn) c.1148T>A (p.Ile383Asn) | |
| 12 | g.120739369T>C | CA386601904 | ACADS | c.1160T>C (p.Ile387Thr) c.1148T>C (p.Ile383Thr) | |
| 12 | g.120739369T>G | CA386601905 | ACADS | c.1160T>G (p.Ile387Ser) c.1148T>G (p.Ile383Ser) | |
| 12 | g.120739370C>A | CA482146923 | ACADS | c.1161C>A (p.Ile387=) c.1149C>A (p.Ile383=) | |
| 12 | g.120739370C= | CA2067555836 | ACADS | c.1161C= (p.Ile387=) c.1149C= (p.Ile383=) | |
| 12 | g.120739370C>G | CA386601906 | ACADS | c.1161C>G (p.Ile387Met) c.1149C>G (p.Ile383Met) | |
| 12 | g.120739370C>T | CA482146924 | ACADS | c.1161C>T (p.Ile387=) c.1149C>T (p.Ile383=) | dbSNP gnomAD v4 |
| 12 | g.120739371_120739372del | CA2621370423 | ACADS | c.1162_1163del (p.Thr388Ter) c.1150_1151del (p.Thr384Ter) | gnomAD v4 |
| 12 | g.120739371A>C | CA386601907 | ACADS | c.1162A>C (p.Thr388Pro) c.1150A>C (p.Thr384Pro) | |
| 12 | g.120739371A>G | CA386601908 | ACADS | c.1162A>G (p.Thr388Ala) c.1150A>G (p.Thr384Ala) | |
| 12 | g.120739371A>T | CA386601909 | ACADS | c.1162A>T (p.Thr388Ser) c.1150A>T (p.Thr384Ser) | |
| 12 | g.120739372C>A | CA386601910 | ACADS | c.1163C>A (p.Thr388Asn) c.1151C>A (p.Thr384Asn) | |
| 12 | g.120739372C>G | CA386601911 | ACADS | c.1163C>G (p.Thr388Ser) c.1151C>G (p.Thr384Ser) | gnomAD v4 |
| 12 | g.120739372C>T | CA386601912 | ACADS | c.1163C>T (p.Thr388Ile) c.1151C>T (p.Thr384Ile) | |
| 12 | g.120739372_120739374delinsCTG | CA2067555837 | ACADS | c.1163_1165delinsCTG (p.Thr388=) c.1151_1153delinsCTG (p.Thr384=) | |
| 12 | g.120739373T>A | CA482146925 | ACADS | c.1164T>A (p.Thr388=) c.1152T>A (p.Thr384=) | |
| 12 | g.120739373T>C | CA482146926 | ACADS | c.1164T>C (p.Thr388=) c.1152T>C (p.Thr384=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739373T>G | CA482146927 | ACADS | c.1164T>G (p.Thr388=) c.1152T>G (p.Thr384=) | dbSNP |
| 12 | g.120739373T= | CA2067555838 | ACADS | c.1164T= (p.Thr388=) c.1152T= (p.Thr384=) | |
| 12 | g.120739373_120739374del | CA16041574 | ACADS | c.1164_1165del (p.Glu389AspfsTer?) c.1152_1153del (p.Glu385AspfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739374G>A | CA386601914 | ACADS | c.1165G>A (p.Glu389Lys) c.1153G>A (p.Glu385Lys) | dbSNP |
| 12 | g.120739374G>C | CA386601913 | ACADS | c.1165G>C (p.Glu389Gln) c.1153G>C (p.Glu385Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739374G= | CA2067555839 | ACADS | c.1165G= (p.Glu389=) c.1153G= (p.Glu385=) | |
| 12 | g.120739374G>T | CA386601915 | ACADS | c.1165G>T (p.Glu389Ter) c.1153G>T (p.Glu385Ter) | gnomAD v4 |
| 12 | g.120739374_120739375insCC | CA952535122 | ACADS | c.1165_1166insCC (p.Glu389AlafsTer14) c.1153_1154insCC (p.Glu385AlafsTer14) | gnomAD v3 gnomAD v4 |
| 12 | g.120739374_120739375insTGTGCC | CA2531173172 | ACADS | c.1165_1166insTGTGCC (p.Glu389delinsValCysGln) c.1153_1154insTGTGCC (p.Glu385delinsValCysGln) | |
| 12 | g.120739375A>C | CA386601916 | ACADS | c.1166A>C (p.Glu389Ala) c.1154A>C (p.Glu385Ala) | dbSNP |
| 12 | g.120739375A>G | CA386601917 | ACADS | c.1166A>G (p.Glu389Gly) c.1154A>G (p.Glu385Gly) | |
| 12 | g.120739375A>T | CA386601918 | ACADS | c.1166A>T (p.Glu389Val) c.1154A>T (p.Glu385Val) | |
| 12 | g.120739376G>A | CA482146928 | ACADS | c.1167G>A (p.Glu389=) c.1155G>A (p.Glu385=) | ClinVar dbSNP |
| 12 | g.120739376G>C | CA386601919 | ACADS | c.1167G>C (p.Glu389Asp) c.1155G>C (p.Glu385Asp) | dbSNP |
| 12 | g.120739376G= | CA2067555840 | ACADS | c.1167G= (p.Glu389=) c.1155G= (p.Glu385=) | |
| 12 | g.120739376G>T | CA386601920 | ACADS | c.1167G>T (p.Glu389Asp) c.1155G>T (p.Glu385Asp) | |
| 12 | g.120739377A>C | CA386601921 | ACADS | c.1168A>C (p.Ile390Leu) c.1156A>C (p.Ile386Leu) | |
| 12 | g.120739377A>G | CA386601922 | ACADS | c.1168A>G (p.Ile390Val) c.1156A>G (p.Ile386Val) | |
| 12 | g.120739377A>T | CA386601923 | ACADS | c.1168A>T (p.Ile390Phe) c.1156A>T (p.Ile386Phe) | |
| 12 | g.120739378T>A | CA6831231 | ACADS | c.1169T>A (p.Ile390Asn) c.1157T>A (p.Ile386Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739378T>C | CA386601924 | ACADS | c.1169T>C (p.Ile390Thr) c.1157T>C (p.Ile386Thr) | |
| 12 | g.120739378T>G | CA386601925 | ACADS | c.1169T>G (p.Ile390Ser) c.1157T>G (p.Ile386Ser) | |
| 12 | g.120739378T= | CA2067555841 | ACADS | c.1169T= (p.Ile390=) c.1157T= (p.Ile386=) | |
| 12 | g.120739379C>A | CA482146929 | ACADS | c.1170C>A (p.Ile390=) c.1158C>A (p.Ile386=) | |
| 12 | g.120739379C= | CA2067555842 | ACADS | c.1170C= (p.Ile390=) c.1158C= (p.Ile386=) | |
| 12 | g.120739379C>G | CA386601926 | ACADS | c.1170C>G (p.Ile390Met) c.1158C>G (p.Ile386Met) | |
| 12 | g.120739379C>T | CA482146930 | ACADS | c.1170C>T (p.Ile390=) c.1158C>T (p.Ile386=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.120739380T>A | CA386601929 | ACADS | c.1171T>A (p.Tyr391Asn) c.1159T>A (p.Tyr387Asn) | |
| 12 | g.120739380T>C | CA386601927 | ACADS | c.1171T>C (p.Tyr391His) c.1159T>C (p.Tyr387His) | |
| 12 | g.120739380T>G | CA386601928 | ACADS | c.1171T>G (p.Tyr391Asp) c.1159T>G (p.Tyr387Asp) | |
| 12 | g.120739381A= | CA2067555843 | ACADS | c.1172A= (p.Tyr391=) c.1160A= (p.Tyr387=) | |
| 12 | g.120739381A>C | CA386601930 | ACADS | c.1172A>C (p.Tyr391Ser) c.1160A>C (p.Tyr387Ser) | |
| 12 | g.120739381A>G | CA6831232 | ACADS | c.1172A>G (p.Tyr391Cys) c.1160A>G (p.Tyr387Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739381A>T | CA386601931 | ACADS | c.1172A>T (p.Tyr391Phe) c.1160A>T (p.Tyr387Phe) | |
| 12 | g.120739382C>A | CA386601932 | ACADS | c.1173C>A (p.Tyr391Ter) c.1161C>A (p.Tyr387Ter) | |
| 12 | g.120739382C= | CA2067555844 | ACADS | c.1173C= (p.Tyr391=) c.1161C= (p.Tyr387=) | |
| 12 | g.120739382C>G | CA386601933 | ACADS | c.1173C>G (p.Tyr391Ter) c.1161C>G (p.Tyr387Ter) | |
| 12 | g.120739382C>T | CA6831233 | ACADS | c.1173C>T (p.Tyr391=) c.1161C>T (p.Tyr387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739383G>A | CA386601934 | ACADS | c.1174G>A (p.Glu392Lys) c.1162G>A (p.Glu388Lys) | gnomAD v4 |
| 12 | g.120739383G>C | CA386601935 | ACADS | c.1174G>C (p.Glu392Gln) c.1162G>C (p.Glu388Gln) | gnomAD v4 |
| 12 | g.120739383G>T | CA386601936 | ACADS | c.1174G>T (p.Glu392Ter) c.1162G>T (p.Glu388Ter) | gnomAD v4 |
| 12 | g.120739384A>C | CA386601937 | ACADS | c.1175A>C (p.Glu392Ala) c.1163A>C (p.Glu388Ala) | |
| 12 | g.120739384A>G | CA386601938 | ACADS | c.1175A>G (p.Glu392Gly) c.1163A>G (p.Glu388Gly) | |
| 12 | g.120739384A>T | CA386601939 | ACADS | c.1175A>T (p.Glu392Val) c.1163A>T (p.Glu388Val) | |
| 12 | g.120739385G>A | CA244495539 | ACADS | c.1176G>A (p.Glu392=) c.1164G>A (p.Glu388=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739385G>C | CA386601941 | ACADS | c.1176G>C (p.Glu392Asp) c.1164G>C (p.Glu388Asp) | |
| 12 | g.120739385G= | CA2067555845 | ACADS | c.1176G= (p.Glu392=) c.1164G= (p.Glu388=) | |
| 12 | g.120739385G>T | CA386601940 | ACADS | c.1176G>T (p.Glu392Asp) c.1164G>T (p.Glu388Asp) | |
| 12 | g.120739386G>A | CA386601942 | ACADS | c.1177G>A (p.Gly393Ser) c.1165G>A (p.Gly389Ser) | |
| 12 | g.120739386G>C | CA386601943 | ACADS | c.1177G>C (p.Gly393Arg) c.1165G>C (p.Gly389Arg) | gnomAD v4 |
| 12 | g.120739386G>T | CA386601944 | ACADS | c.1177G>T (p.Gly393Cys) c.1165G>T (p.Gly389Cys) | |
| 12 | g.120739387G>A | CA386601945 | ACADS | c.1178G>A (p.Gly393Asp) c.1166G>A (p.Gly389Asp) | gnomAD v4 |
| 12 | g.120739387G>C | CA386601946 | ACADS | c.1178G>C (p.Gly393Ala) c.1166G>C (p.Gly389Ala) | |
| 12 | g.120739387G>T | CA386601947 | ACADS | c.1178G>T (p.Gly393Val) c.1166G>T (p.Gly389Val) | |
| 12 | g.120739388C>A | CA482146931 | ACADS | c.1179C>A (p.Gly393=) c.1167C>A (p.Gly389=) | |
| 12 | g.120739388C>G | CA482146933 | ACADS | c.1179C>G (p.Gly393=) c.1167C>G (p.Gly389=) | |
| 12 | g.120739388C>T | CA482146932 | ACADS | c.1179C>T (p.Gly393=) c.1167C>T (p.Gly389=) | ClinVar |
| 12 | g.120739389_120739390del | CA912973557 | ACADS | c.1180_1181del (p.Thr394GlnfsTer?) c.1168_1169del (p.Thr390GlnfsTer?) | |
| 12 | g.120739389A>C | CA386601948 | ACADS | c.1180A>C (p.Thr394Pro) c.1168A>C (p.Thr390Pro) | |
| 12 | g.120739389A>G | CA386601949 | ACADS | c.1180A>G (p.Thr394Ala) c.1168A>G (p.Thr390Ala) | |
| 12 | g.120739389A>T | CA386601950 | ACADS | c.1180A>T (p.Thr394Ser) c.1168A>T (p.Thr390Ser) | |
| 12 | g.120739389_120739390delinsAC | CA2067555846 | ACADS | c.1180_1181delinsAC (p.Thr394=) c.1168_1169delinsAC (p.Thr390=) | |
| 12 | g.120739390C>A | CA386601951 | ACADS | c.1181C>A (p.Thr394Asn) c.1169C>A (p.Thr390Asn) | |
| 12 | g.120739390C>G | CA386601952 | ACADS | c.1181C>G (p.Thr394Ser) c.1169C>G (p.Thr390Ser) | |
| 12 | g.120739390C>T | CA386601953 | ACADS | c.1181C>T (p.Thr394Ile) c.1169C>T (p.Thr390Ile) | |
| 12 | g.120739391del | CA658822775 | ACADS | c.1182del (p.Ser395AlafsTer7) c.1170del (p.Ser391AlafsTer7) | ClinVar dbSNP |
| 12 | g.120739391C>A | CA482146934 | ACADS | c.1182C>A (p.Thr394=) c.1170C>A (p.Thr390=) | |
| 12 | g.120739391C= | CA2067555847 | ACADS | c.1182C= (p.Thr394=) c.1170C= (p.Thr390=) | |
| 12 | g.120739391C>G | CA482146935 | ACADS | c.1182C>G (p.Thr394=) c.1170C>G (p.Thr390=) | dbSNP |
| 12 | g.120739391C>T | CA6831234 | ACADS | c.1182C>T (p.Thr394=) c.1170C>T (p.Thr390=) | dbSNP ExAC gnomAD v2 |
| 12 | g.120739392A= | CA2067555848 | ACADS | c.1183A= (p.Ser395=) c.1171A= (p.Ser391=) | |
| 12 | g.120739392A>C | CA386601955 | ACADS | c.1183A>C (p.Ser395Arg) c.1171A>C (p.Ser391Arg) | |
| 12 | g.120739392A>G | CA244495551 | ACADS | c.1183A>G (p.Ser395Gly) c.1171A>G (p.Ser391Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739392A>T | CA386601954 | ACADS | c.1183A>T (p.Ser395Cys) c.1171A>T (p.Ser391Cys) | |
| 12 | g.120739392_120739393insCGCAGCTGCAAGTCGTGGCCGCCATCC | CA2797705155 | ACADS | c.1183_1184insCGCAGCTGCAAGTCGTGGCCGCCATCC (p.Ser395delinsThrGlnLeuGlnValValAlaAlaIleArg) c.1171_1172insCGCAGCTGCAAGTCGTGGCCGCCATCC (p.Ser391delinsThrGlnLeuGlnValValAlaAlaIleArg) | |
| 12 | g.120739392_120739393insCGCAGCTGCAAGTCGTGGCCGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCT | CA2568536049 | ACADS | c.1183_1184insCGCAGCTGCAAGTCGTGGCCGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCT (p.Ser395ThrfsTer?) c.1171_1172insCGCAGCTGCAAGTCGTGGCCGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCT (p.Ser391ThrfsTer?) | |
| 12 | g.120739392_120739393insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC | CA2507751059 | ACADS | c.1183_1184insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC (p.Ser395ThrfsTer44) c.1171_1172insCGCAGCTGCAAGTCGTGGCTGCCATCCGCCACGTCACCACCGGCACGTACCTCGCCCGCCTGCGCGAATACGAGGCCGAAACGTATCGCCCCGAACTCTCCGACCTGCAC (p.Ser391ThrfsTer44) | |
| 12 | g.120739393G>A | CA386601956 | ACADS | c.1184G>A (p.Ser395Asn) c.1172G>A (p.Ser391Asn) | |
| 12 | g.120739393G>C | CA386601957 | ACADS | c.1184G>C (p.Ser395Thr) c.1172G>C (p.Ser391Thr) | |
| 12 | g.120739393G= | CA2067555849 | ACADS | c.1184G= (p.Ser395=) c.1172G= (p.Ser391=) | |
| 12 | g.120739393G>T | CA386601958 | ACADS | c.1184G>T (p.Ser395Ile) c.1172G>T (p.Ser391Ile) | |
| 12 | g.120739394C>A | CA386601959 | ACADS | c.1185C>A (p.Ser395Arg) c.1173C>A (p.Ser391Arg) | dbSNP |
| 12 | g.120739394C= | CA2067555850 | ACADS | c.1185C= (p.Ser395=) c.1173C= (p.Ser391=) | |
| 12 | g.120739394C>G | CA386601960 | ACADS | c.1185C>G (p.Ser395Arg) c.1173C>G (p.Ser391Arg) | |
| 12 | g.120739394C>T | CA6831235 | ACADS | c.1185C>T (p.Ser395=) c.1173C>T (p.Ser391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739394dup | CA684419297 | ACADS | c.1185dup (p.Glu396ArgfsTer?) c.1173dup (p.Glu392ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739395G>A | CA386601961 | ACADS | c.1186G>A (p.Glu396Lys) c.1174G>A (p.Glu392Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.120739395G>C | CA386601963 | ACADS | c.1186G>C (p.Glu396Gln) c.1174G>C (p.Glu392Gln) | |
| 12 | g.120739395G= | CA2067555851 | ACADS | c.1186G= (p.Glu396=) c.1174G= (p.Glu392=) | |
| 12 | g.120739395G>T | CA386601962 | ACADS | c.1186G>T (p.Glu396Ter) c.1174G>T (p.Glu392Ter) | gnomAD v4 |
| 12 | g.120739396A>C | CA386601964 | ACADS | c.1187A>C (p.Glu396Ala) c.1175A>C (p.Glu392Ala) | |
| 12 | g.120739396A>G | CA386601965 | ACADS | c.1187A>G (p.Glu396Gly) c.1175A>G (p.Glu392Gly) | |
| 12 | g.120739396A>T | CA386601966 | ACADS | c.1187A>T (p.Glu396Val) c.1175A>T (p.Glu392Val) | |
| 12 | g.120739397A= | CA2067555852 | ACADS | c.1188A= (p.Glu396=) c.1176A= (p.Glu392=) | |
| 12 | g.120739397A>C | CA386601967 | ACADS | c.1188A>C (p.Glu396Asp) c.1176A>C (p.Glu392Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739397A>G | CA482146936 | ACADS | c.1188A>G (p.Glu396=) c.1176A>G (p.Glu392=) | dbSNP |
| 12 | g.120739397A>T | CA386601968 | ACADS | c.1188A>T (p.Glu396Asp) c.1176A>T (p.Glu392Asp) | dbSNP |
| 12 | g.120739398A= | CA2067555853 | ACADS | c.1189A= (p.Ile397=) c.1177A= (p.Ile393=) | |
| 12 | g.120739398A>C | CA386601970 | ACADS | c.1189A>C (p.Ile397Leu) c.1177A>C (p.Ile393Leu) | |
| 12 | g.120739398A>G | CA386601971 | ACADS | c.1189A>G (p.Ile397Val) c.1177A>G (p.Ile393Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739398A>T | CA386601969 | ACADS | c.1189A>T (p.Ile397Phe) c.1177A>T (p.Ile393Phe) | gnomAD v4 |
| 12 | g.120739399T>A | CA386601973 | ACADS | c.1190T>A (p.Ile397Asn) c.1178T>A (p.Ile393Asn) | |
| 12 | g.120739399T>C | CA386601972 | ACADS | c.1190T>C (p.Ile397Thr) c.1178T>C (p.Ile393Thr) | gnomAD v4 |
| 12 | g.120739399T>G | CA386601974 | ACADS | c.1190T>G (p.Ile397Ser) c.1178T>G (p.Ile393Ser) | |
| 12 | g.120739400C>A | CA482146937 | ACADS | c.1191C>A (p.Ile397=) c.1179C>A (p.Ile393=) | |
| 12 | g.120739400C= | CA2067555854 | ACADS | c.1191C= (p.Ile397=) c.1179C= (p.Ile393=) | |
| 12 | g.120739400C>G | CA386601975 | ACADS | c.1191C>G (p.Ile397Met) c.1179C>G (p.Ile393Met) | dbSNP |
| 12 | g.120739400C>T | CA482146938 | ACADS | c.1191C>T (p.Ile397=) c.1179C>T (p.Ile393=) | dbSNP |
| 12 | g.120739401C>A | CA386601977 | ACADS | c.1192C>A (p.Gln398Lys) c.1180C>A (p.Gln394Lys) | |
| 12 | g.120739401C= | CA2067555855 | ACADS | c.1192C= (p.Gln398=) c.1180C= (p.Gln394=) | |
| 12 | g.120739401C>G | CA386601976 | ACADS | c.1192C>G (p.Gln398Glu) c.1180C>G (p.Gln394Glu) | |
| 12 | g.120739401C>T | CA6831236 | ACADS | c.1192C>T (p.Gln398Ter) c.1180C>T (p.Gln394Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739402A= | CA2067555856 | ACADS | c.1193A= (p.Gln398=) c.1181A= (p.Gln394=) | |
| 12 | g.120739402A>C | CA386601978 | ACADS | c.1193A>C (p.Gln398Pro) c.1181A>C (p.Gln394Pro) | |
| 12 | g.120739402A>G | CA386601980 | ACADS | c.1193A>G (p.Gln398Arg) c.1181A>G (p.Gln394Arg) | |
| 12 | g.120739402A>T | CA386601979 | ACADS | c.1193A>T (p.Gln398Leu) c.1181A>T (p.Gln394Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739403G>A | CA482146939 | ACADS | c.1194G>A (p.Gln398=) c.1182G>A (p.Gln394=) | |
| 12 | g.120739403G>C | CA386601981 | ACADS | c.1194G>C (p.Gln398His) c.1182G>C (p.Gln394His) | |
| 12 | g.120739403G>T | CA386601982 | ACADS | c.1194G>T (p.Gln398His) c.1182G>T (p.Gln394His) | |
| 12 | g.120739404C>A | CA6831238 | ACADS | c.1195C>A (p.Arg399=) c.1183C>A (p.Arg395=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739404C= | CA2067555857 | ACADS | c.1195C= (p.Arg399=) c.1183C= (p.Arg395=) | |
| 12 | g.120739404C>G | CA386601983 | ACADS | c.1195C>G (p.Arg399Gly) c.1183C>G (p.Arg395Gly) | |
| 12 | g.120739404C>T | CA6831237 | ACADS | c.1195C>T (p.Arg399Trp) c.1183C>T (p.Arg395Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739405G>A | CA244495583 | ACADS | c.1196G>A (p.Arg399Gln) c.1184G>A (p.Arg395Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739405G>C | CA386601984 | ACADS | c.1196G>C (p.Arg399Pro) c.1184G>C (p.Arg395Pro) | |
| 12 | g.120739405G= | CA2067555858 | ACADS | c.1196G= (p.Arg399=) c.1184G= (p.Arg395=) | |
| 12 | g.120739405G>T | CA386601985 | ACADS | c.1196G>T (p.Arg399Leu) c.1184G>T (p.Arg395Leu) | |
| 12 | g.120739406G>A | CA482146940 | ACADS | c.1197G>A (p.Arg399=) c.1185G>A (p.Arg395=) | |
| 12 | g.120739406G>C | CA482146941 | ACADS | c.1197G>C (p.Arg399=) c.1185G>C (p.Arg395=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739406G= | CA2067555859 | ACADS | c.1197G= (p.Arg399=) c.1185G= (p.Arg395=) | |
| 12 | g.120739406G>T | CA482146942 | ACADS | c.1197G>T (p.Arg399=) c.1185G>T (p.Arg395=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739407C>A | CA244495594 | ACADS | c.1198C>A (p.Leu400Met) c.1186C>A (p.Leu396Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739407C= | CA2067555860 | ACADS | c.1198C= (p.Leu400=) c.1186C= (p.Leu396=) | |
| 12 | g.120739407C>G | CA6831239 | ACADS | c.1198C>G (p.Leu400Val) c.1186C>G (p.Leu396Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739407C>T | CA6831240 | ACADS | c.1198C>T (p.Leu400=) c.1186C>T (p.Leu396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739408T>A | CA386601988 | ACADS | c.1199T>A (p.Leu400Gln) c.1187T>A (p.Leu396Gln) | |
| 12 | g.120739408T>C | CA386601986 | ACADS | c.1199T>C (p.Leu400Pro) c.1187T>C (p.Leu396Pro) | |
| 12 | g.120739408T>G | CA386601987 | ACADS | c.1199T>G (p.Leu400Arg) c.1187T>G (p.Leu396Arg) | |
| 12 | g.120739409G>A | CA482146943 | ACADS | c.1200G>A (p.Leu400=) c.1188G>A (p.Leu396=) | gnomAD v4 COSMIC |
| 12 | g.120739409G>C | CA482146945 | ACADS | c.1200G>C (p.Leu400=) c.1188G>C (p.Leu396=) | dbSNP |
| 12 | g.120739409G>T | CA482146944 | ACADS | c.1200G>T (p.Leu400=) c.1188G>T (p.Leu396=) | |
| 12 | g.120739410G>A | CA244495632 | ACADS | c.1201G>A (p.Val401Met) c.1189G>A (p.Val397Met) | dbSNP gnomAD v4 |
| 12 | g.120739410G>C | CA386601989 | ACADS | c.1201G>C (p.Val401Leu) c.1189G>C (p.Val397Leu) | dbSNP |
| 12 | g.120739410G= | CA2067555861 | ACADS | c.1201G= (p.Val401=) c.1189G= (p.Val397=) | |
| 12 | g.120739410G>T | CA386601990 | ACADS | c.1201G>T (p.Val401Leu) c.1189G>T (p.Val397Leu) | |
| 12 | g.120739411T>A | CA386601991 | ACADS | c.1202T>A (p.Val401Glu) c.1190T>A (p.Val397Glu) | |
| 12 | g.120739411T>C | CA386601992 | ACADS | c.1202T>C (p.Val401Ala) c.1190T>C (p.Val397Ala) | |
| 12 | g.120739411T>G | CA6831241 | ACADS | c.1202T>G (p.Val401Gly) c.1190T>G (p.Val397Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739411T= | CA2067555862 | ACADS | c.1202T= (p.Val401=) c.1190T= (p.Val397=) | |
| 12 | g.120739412G>A | CA6831242 | ACADS | c.1203G>A (p.Val401=) c.1191G>A (p.Val397=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739412G>C | CA482146946 | ACADS | c.1203G>C (p.Val401=) c.1191G>C (p.Val397=) | dbSNP |
| 12 | g.120739412G= | CA2067555863 | ACADS | c.1203G= (p.Val401=) c.1191G= (p.Val397=) | |
| 12 | g.120739412G>T | CA482146947 | ACADS | c.1203G>T (p.Val401=) c.1191G>T (p.Val397=) | gnomAD v4 |
| 12 | g.120739413A>C | CA386601993 | ACADS | c.1204A>C (p.Ile402Leu) c.1192A>C (p.Ile398Leu) | |
| 12 | g.120739413A>G | CA386601994 | ACADS | c.1204A>G (p.Ile402Val) c.1192A>G (p.Ile398Val) | gnomAD v4 |
| 12 | g.120739413A>T | CA386601995 | ACADS | c.1204A>T (p.Ile402Phe) c.1192A>T (p.Ile398Phe) | |
| 12 | g.120739414T>A | CA386601997 | ACADS | c.1205T>A (p.Ile402Asn) c.1193T>A (p.Ile398Asn) | |
| 12 | g.120739414T>C | CA386601998 | ACADS | c.1205T>C (p.Ile402Thr) c.1193T>C (p.Ile398Thr) | |
| 12 | g.120739414T>G | CA386601996 | ACADS | c.1205T>G (p.Ile402Ser) c.1193T>G (p.Ile398Ser) |