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.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=) |