Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120739304G>A | CA482146902 | ACADS | c.1095G>A (p.Gln365=) c.1083G>A (p.Gln361=) | |
12 | g.120739304G>C | CA386601774 | ACADS | c.1095G>C (p.Gln365His) c.1083G>C (p.Gln361His) | |
12 | g.120739304G= | CA2067555795 | ACADS | c.1095G= (p.Gln365=) c.1083G= (p.Gln361=) | |
12 | g.120739304G>T | CA312228 | ACADS | c.1095G>T (p.Gln365His) c.1083G>T (p.Gln361His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120739305A>C | CA386601775 | ACADS | c.1096A>C (p.Ile366Leu) c.1084A>C (p.Ile362Leu) | |
12 | g.120739305A>G | CA386601776 | ACADS | c.1096A>G (p.Ile366Val) c.1084A>G (p.Ile362Val) | |
12 | g.120739305A>T | CA386601777 | ACADS | c.1096A>T (p.Ile366Phe) c.1084A>T (p.Ile362Phe) | |
12 | g.120739306T>A | CA386601778 | ACADS | c.1097T>A (p.Ile366Asn) c.1085T>A (p.Ile362Asn) | |
12 | g.120739306T>C | CA386601779 | ACADS | c.1097T>C (p.Ile366Thr) c.1085T>C (p.Ile362Thr) | |
12 | g.120739306T>G | CA386601780 | ACADS | c.1097T>G (p.Ile366Ser) c.1085T>G (p.Ile362Ser) | |
12 | g.120739307C>A | CA482146904 | ACADS | c.1098C>A (p.Ile366=) c.1086C>A (p.Ile362=) | |
12 | g.120739307C= | CA2067555796 | ACADS | c.1098C= (p.Ile366=) c.1086C= (p.Ile362=) | |
12 | g.120739307C>G | CA244495342 | ACADS | c.1098C>G (p.Ile366Met) c.1086C>G (p.Ile362Met) | dbSNP gnomAD v4 |
12 | g.120739307C>T | CA482146906 | ACADS | c.1098C>T (p.Ile366=) c.1086C>T (p.Ile362=) | gnomAD v4 |
12 | g.120739309_120739339dup | CA2621370313 | ACADS | c.1100_1130dup (p.Ala378GlyfsTer22) c.1088_1118dup (p.Ala374GlyfsTer22) | gnomAD v4 |
12 | g.120739308C>A | CA386601781 | ACADS | c.1099C>A (p.Leu367Met) c.1087C>A (p.Leu363Met) | |
12 | g.120739308C>G | CA386601782 | ACADS | c.1099C>G (p.Leu367Val) c.1087C>G (p.Leu363Val) | |
12 | g.120739308C>T | CA482146907 | ACADS | c.1099C>T (p.Leu367=) c.1087C>T (p.Leu363=) | |
12 | g.120739309T>A | CA386601783 | ACADS | c.1100T>A (p.Leu367Gln) c.1088T>A (p.Leu363Gln) | |
12 | g.120739309T>C | CA386601784 | ACADS | c.1100T>C (p.Leu367Pro) c.1088T>C (p.Leu363Pro) | |
12 | g.120739309T>G | CA386601785 | ACADS | c.1100T>G (p.Leu367Arg) c.1088T>G (p.Leu363Arg) | |
12 | g.120739310G>A | CA482146911 | ACADS | c.1101G>A (p.Leu367=) c.1089G>A (p.Leu363=) | gnomAD v4 |
12 | g.120739310G>C | CA6831221 | ACADS | c.1101G>C (p.Leu367=) c.1089G>C (p.Leu363=) | dbSNP ExAC gnomAD v4 |
12 | g.120739310G= | CA2067555797 | ACADS | c.1101G= (p.Leu367=) c.1089G= (p.Leu363=) | |
12 | g.120739310G>T | CA482146912 | ACADS | c.1101G>T (p.Leu367=) c.1089G>T (p.Leu363=) | gnomAD v4 |
12 | g.120739311G>A | CA386601786 | ACADS | c.1102G>A (p.Gly368Ser) c.1090G>A (p.Gly364Ser) | ClinVar dbSNP |
12 | g.120739311G>C | CA386601787 | ACADS | c.1102G>C (p.Gly368Arg) c.1090G>C (p.Gly364Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120739311G= | CA2067555798 | ACADS | c.1102G= (p.Gly368=) c.1090G= (p.Gly364=) | |
12 | g.120739311G>T | CA386601788 | ACADS | c.1102G>T (p.Gly368Cys) c.1090G>T (p.Gly364Cys) | |
12 | g.120739312G>A | CA386601789 | ACADS | c.1103G>A (p.Gly368Asp) c.1091G>A (p.Gly364Asp) | |
12 | g.120739312G>C | CA386601790 | ACADS | c.1103G>C (p.Gly368Ala) c.1091G>C (p.Gly364Ala) | |
12 | g.120739312G>T | CA386601791 | ACADS | c.1103G>T (p.Gly368Val) c.1091G>T (p.Gly364Val) | |
12 | g.120739313C>A | CA482146872 | ACADS | c.1104C>A (p.Gly368=) c.1092C>A (p.Gly364=) | |
12 | g.120739313C= | CA2067555799 | ACADS | c.1104C= (p.Gly368=) c.1092C= (p.Gly364=) | |
12 | g.120739313C>G | CA482146874 | ACADS | c.1104C>G (p.Gly368=) c.1092C>G (p.Gly364=) | |
12 | g.120739313C>T | CA6831222 | ACADS | c.1104C>T (p.Gly368=) c.1092C>T (p.Gly364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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 |