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.120739327_120739357del | CA645590091 | ACADS | c.1118_1148del (p.Val373AlafsTer19) c.1106_1136del (p.Val369AlafsTer19) | COSMIC |
| 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) | |
| 12 | g.120739415C>A | CA482146948 | ACADS | c.1206C>A (p.Ile402=) c.1194C>A (p.Ile398=) | |
| 12 | g.120739415C= | CA2067555864 | ACADS | c.1206C= (p.Ile402=) c.1194C= (p.Ile398=) | |
| 12 | g.120739415C>G | CA386601999 | ACADS | c.1206C>G (p.Ile402Met) c.1194C>G (p.Ile398Met) | dbSNP gnomAD v4 |
| 12 | g.120739415C>T | CA6831243 | ACADS | c.1206C>T (p.Ile402=) c.1194C>T (p.Ile398=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739416G>A | CA6831244 | ACADS | c.1207G>A (p.Ala403Thr) c.1195G>A (p.Ala399Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739416G>C | CA386602000 | ACADS | c.1207G>C (p.Ala403Pro) c.1195G>C (p.Ala399Pro) | |
| 12 | g.120739416G= | CA2067555865 | ACADS | c.1207G= (p.Ala403=) c.1195G= (p.Ala399=) | |
| 12 | g.120739416G>T | CA386602001 | ACADS | c.1207G>T (p.Ala403Ser) c.1195G>T (p.Ala399Ser) | gnomAD v4 |
| 12 | g.120739417C>A | CA386602002 | ACADS | c.1208C>A (p.Ala403Asp) c.1196C>A (p.Ala399Asp) | |
| 12 | g.120739417C>G | CA386602003 | ACADS | c.1208C>G (p.Ala403Gly) c.1196C>G (p.Ala399Gly) | |
| 12 | g.120739417C>T | CA386602004 | ACADS | c.1208C>T (p.Ala403Val) c.1196C>T (p.Ala399Val) | |
| 12 | g.120739417_120739418insGCGCGCTTTGTAGAACGGCGCGA | CA2621370543 | ACADS | c.1208_1209insGCGCGCTTTGTAGAACGGCGCGA (p.Gly404ArgfsTer4) c.1196_1197insGCGCGCTTTGTAGAACGGCGCGA (p.Gly400ArgfsTer4) | gnomAD v4 |
| 12 | g.120739418C>A | CA482146950 | ACADS | c.1209C>A (p.Ala403=) c.1197C>A (p.Ala399=) | gnomAD v4 |
| 12 | g.120739418C= | CA2067555866 | ACADS | c.1209C= (p.Ala403=) c.1197C= (p.Ala399=) | |
| 12 | g.120739418C>G | CA482146949 | ACADS | c.1209C>G (p.Ala403=) c.1197C>G (p.Ala399=) | |
| 12 | g.120739418C>T | CA6831245 | ACADS | c.1209C>T (p.Ala403=) c.1197C>T (p.Ala399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739418_120739419insCGCGCCTTGTAAGC | CA2621370544 | ACADS | c.1209_1210insCGCGCCTTGTAAGC (p.Gly404ArgfsTer4) c.1197_1198insCGCGCCTTGTAAGC (p.Gly400ArgfsTer4) | gnomAD v4 |
| 12 | g.120739418_120739419insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC | CA2621370538 | ACADS | c.1209_1210insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC c.1197_1198insCGCGCCTTGTAAGCGGGCGCCGGTGGTGGCCGCCCACGC | gnomAD v4 |
| 12 | g.120739419G>A | CA6831247 | ACADS | c.1210G>A (p.Gly404Arg) c.1198G>A (p.Gly400Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739419G>C | CA386602005 | ACADS | c.1210G>C (p.Gly404Arg) c.1198G>C (p.Gly400Arg) | dbSNP |
| 12 | g.120739419G= | CA2067555867 | ACADS | c.1210G= (p.Gly404=) c.1198G= (p.Gly400=) | |
| 12 | g.120739419G>T | CA6831246 | ACADS | c.1210G>T (p.Gly404Trp) c.1198G>T (p.Gly400Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739420G>A | CA386602008 | ACADS | c.1211G>A (p.Gly404Glu) c.1199G>A (p.Gly400Glu) | COSMIC |
| 12 | g.120739420G>C | CA386602006 | ACADS | c.1211G>C (p.Gly404Ala) c.1199G>C (p.Gly400Ala) | |
| 12 | g.120739420G>T | CA386602007 | ACADS | c.1211G>T (p.Gly404Val) c.1199G>T (p.Gly400Val) | gnomAD v4 |
| 12 | g.120739421G>A | CA482146951 | ACADS | c.1212G>A (p.Gly404=) c.1200G>A (p.Gly400=) | dbSNP gnomAD v4 |
| 12 | g.120739421G>C | CA482146952 | ACADS | c.1212G>C (p.Gly404=) c.1200G>C (p.Gly400=) | |
| 12 | g.120739421G= | CA2067555869 | ACADS | c.1212G= (p.Gly404=) c.1200G= (p.Gly400=) | |
| 12 | g.120739421G>T | CA482146953 | ACADS | c.1212G>T (p.Gly404=) c.1200G>T (p.Gly400=) | |
| 12 | g.120739421_120739422del | CA912973558 | ACADS | c.1212_1213del (p.His405SerfsTer?) c.1200_1201del (p.His401SerfsTer?) | |
| 12 | g.120739421_120739422delinsGC | CA2067555868 | ACADS | c.1212_1213delinsGC (p.Gly404=) c.1200_1201delinsGC (p.Gly400=) | |
| 12 | g.120739422_120739423insGCCGGTGGTGGCCGC | CA2621370555 | ACADS | c.1213_1214insGCCGGTGGTGGCCGC (p.Gly404_His405insArgArgTrpTrpPro) c.1201_1202insGCCGGTGGTGGCCGC (p.Gly400_His401insArgArgTrpTrpPro) | gnomAD v4 |
| 12 | g.120739422del | CA658822776 | ACADS | c.1213del (p.His405IlefsTer?) c.1201del (p.His401IlefsTer?) | ClinVar dbSNP |
| 12 | g.120739422C>A | CA386602009 | ACADS | c.1213C>A (p.His405Asn) c.1201C>A (p.His401Asn) | |
| 12 | g.120739422C= | CA2067555870 | ACADS | c.1213C= (p.His405=) c.1201C= (p.His401=) | |
| 12 | g.120739422C>G | CA386602010 | ACADS | c.1213C>G (p.His405Asp) c.1201C>G (p.His401Asp) | |
| 12 | g.120739422C>T | CA6831248 | ACADS | c.1213C>T (p.His405Tyr) c.1201C>T (p.His401Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739422_120739423insGCCGGTGGTGGCCGCCCACGCGGGCGACCCGCCGGTC | CA2621370559 | ACADS | c.1213_1214insGCCGGTGGTGGCCGCCCACGCGGGCGACCCGCCGGTC (p.His405ArgfsTer?) c.1201_1202insGCCGGTGGTGGCCGCCCACGCGGGCGACCCGCCGGTC (p.His401ArgfsTer?) | gnomAD v4 |
| 12 | g.120739423A>C | CA386602011 | ACADS | c.1214A>C (p.His405Pro) c.1202A>C (p.His401Pro) | |
| 12 | g.120739423A>G | CA386602012 | ACADS | c.1214A>G (p.His405Arg) c.1202A>G (p.His401Arg) | gnomAD v4 |
| 12 | g.120739423A>T | CA386602013 | ACADS | c.1214A>T (p.His405Leu) c.1202A>T (p.His401Leu) | |
| 12 | g.120739424T>A | CA386602014 | ACADS | c.1215T>A (p.His405Gln) c.1203T>A (p.His401Gln) | |
| 12 | g.120739424T>C | CA482146954 | ACADS | c.1215T>C (p.His405=) c.1203T>C (p.His401=) | |
| 12 | g.120739424T>G | CA386602015 | ACADS | c.1215T>G (p.His405Gln) c.1203T>G (p.His401Gln) | |
| 12 | g.120739425C>A | CA386602016 | ACADS | c.1216C>A (p.Leu406Met) c.1204C>A (p.Leu402Met) | |
| 12 | g.120739425C>G | CA386602017 | ACADS | c.1216C>G (p.Leu406Val) c.1204C>G (p.Leu402Val) | |
| 12 | g.120739425C>T | CA482146955 | ACADS | c.1216C>T (p.Leu406=) c.1204C>T (p.Leu402=) | |
| 12 | g.120739426T>A | CA386602018 | ACADS | c.1217T>A (p.Leu406Gln) c.1205T>A (p.Leu402Gln) | |
| 12 | g.120739426T>C | CA386602019 | ACADS | c.1217T>C (p.Leu406Pro) c.1205T>C (p.Leu402Pro) | |
| 12 | g.120739426T>G | CA386602020 | ACADS | c.1217T>G (p.Leu406Arg) c.1205T>G (p.Leu402Arg) | |
| 12 | g.120739427G>A | CA482146956 | ACADS | c.1218G>A (p.Leu406=) c.1206G>A (p.Leu402=) | |
| 12 | g.120739427G>C | CA482146957 | ACADS | c.1218G>C (p.Leu406=) c.1206G>C (p.Leu402=) | |
| 12 | g.120739427G>T | CA482146958 | ACADS | c.1218G>T (p.Leu406=) c.1206G>T (p.Leu402=) | |
| 12 | g.120739428C>A | CA386602022 | ACADS | c.1219C>A (p.Leu407Ile) c.1207C>A (p.Leu403Ile) | |
| 12 | g.120739428C>G | CA386602023 | ACADS | c.1219C>G (p.Leu407Val) c.1207C>G (p.Leu403Val) | |
| 12 | g.120739428C>T | CA386602021 | ACADS | c.1219C>T (p.Leu407Phe) c.1207C>T (p.Leu403Phe) | |
| 12 | g.120739429T>A | CA386602026 | ACADS | c.1220T>A (p.Leu407His) c.1208T>A (p.Leu403His) | |
| 12 | g.120739429T>C | CA386602024 | ACADS | c.1220T>C (p.Leu407Pro) c.1208T>C (p.Leu403Pro) | |
| 12 | g.120739429T>G | CA386602025 | ACADS | c.1220T>G (p.Leu407Arg) c.1208T>G (p.Leu403Arg) | |
| 12 | g.120739430C>A | CA482146959 | ACADS | c.1221C>A (p.Leu407=) c.1209C>A (p.Leu403=) | gnomAD v4 |
| 12 | g.120739430C>G | CA482146960 | ACADS | c.1221C>G (p.Leu407=) c.1209C>G (p.Leu403=) | |
| 12 | g.120739430C>T | CA482146961 | ACADS | c.1221C>T (p.Leu407=) c.1209C>T (p.Leu403=) | gnomAD v4 |
| 12 | g.120739431A>C | CA482146962 | ACADS | c.1222A>C (p.Arg408=) c.1210A>C (p.Arg404=) | |
| 12 | g.120739431A>G | CA386602027 | ACADS | c.1222A>G (p.Arg408Gly) c.1210A>G (p.Arg404Gly) | gnomAD v4 |
| 12 | g.120739431A>T | CA386602028 | ACADS | c.1222A>T (p.Arg408Trp) c.1210A>T (p.Arg404Trp) | |
| 12 | g.120739432G>A | CA386602029 | ACADS | c.1223G>A (p.Arg408Lys) c.1211G>A (p.Arg404Lys) | |
| 12 | g.120739432G>C | CA386602030 | ACADS | c.1223G>C (p.Arg408Thr) c.1211G>C (p.Arg404Thr) | |
| 12 | g.120739432G>T | CA386602031 | ACADS | c.1223G>T (p.Arg408Met) c.1211G>T (p.Arg404Met) | |
| 12 | g.120739433G>A | CA482146963 | ACADS | c.1224G>A (p.Arg408=) c.1212G>A (p.Arg404=) | gnomAD v4 |
| 12 | g.120739433G>C | CA386602032 | ACADS | c.1224G>C (p.Arg408Ser) c.1212G>C (p.Arg404Ser) | |
| 12 | g.120739433G>T | CA386602033 | ACADS | c.1224G>T (p.Arg408Ser) c.1212G>T (p.Arg404Ser) | |
| 12 | g.120739434A>C | CA386602034 | ACADS | c.1225A>C (p.Ser409Arg) c.1213A>C (p.Ser405Arg) | |
| 12 | g.120739434A>G | CA386602035 | ACADS | c.1225A>G (p.Ser409Gly) c.1213A>G (p.Ser405Gly) | |
| 12 | g.120739434A>T | CA386602036 | ACADS | c.1225A>T (p.Ser409Cys) c.1213A>T (p.Ser405Cys) | |
| 12 | g.120739435G>A | CA6831249 | ACADS | c.1226G>A (p.Ser409Asn) c.1214G>A (p.Ser405Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739435G>C | CA386602037 | ACADS | c.1226G>C (p.Ser409Thr) c.1214G>C (p.Ser405Thr) | ClinVar |
| 12 | g.120739435G= | CA2067555871 | ACADS | c.1226G= (p.Ser409=) c.1214G= (p.Ser405=) | |
| 12 | g.120739435G>T | CA386602038 | ACADS | c.1226G>T (p.Ser409Ile) c.1214G>T (p.Ser405Ile) | gnomAD v4 |
| 12 | g.120739436C>A | CA386602039 | ACADS | c.1227C>A (p.Ser409Arg) c.1215C>A (p.Ser405Arg) | gnomAD v4 |
| 12 | g.120739436C>G | CA386602040 | ACADS | c.1227C>G (p.Ser409Arg) c.1215C>G (p.Ser405Arg) | |
| 12 | g.120739436C>T | CA482146964 | ACADS | c.1227C>T (p.Ser409=) c.1215C>T (p.Ser405=) | |
| 12 | g.120739437T>A | CA386602041 | ACADS | c.1228T>A (p.Tyr410Asn) c.1216T>A (p.Tyr406Asn) | |
| 12 | g.120739437T>C | CA386602042 | ACADS | c.1228T>C (p.Tyr410His) c.1216T>C (p.Tyr406His) | |
| 12 | g.120739437T>G | CA386602043 | ACADS | c.1228T>G (p.Tyr410Asp) c.1216T>G (p.Tyr406Asp) | |
| 12 | g.120739438A= | CA2067555872 | ACADS | c.1229A= (p.Tyr410=) c.1217A= (p.Tyr406=) | |
| 12 | g.120739438A>C | CA386602044 | ACADS | c.1229A>C (p.Tyr410Ser) c.1217A>C (p.Tyr406Ser) | |
| 12 | g.120739438A>G | CA386602045 | ACADS | c.1229A>G (p.Tyr410Cys) c.1217A>G (p.Tyr406Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739438A>T | CA386602046 | ACADS | c.1229A>T (p.Tyr410Phe) c.1217A>T (p.Tyr406Phe) | |
| 12 | g.120739439C>A | CA386602047 | ACADS | c.1230C>A (p.Tyr410Ter) c.1218C>A (p.Tyr406Ter) | |
| 12 | g.120739439C>G | CA386602048 | ACADS | c.1230C>G (p.Tyr410Ter) c.1218C>G (p.Tyr406Ter) | |
| 12 | g.120739439C>T | CA482146965 | ACADS | c.1230C>T (p.Tyr410=) c.1218C>T (p.Tyr406=) | |
| 12 | g.120739440C>A | CA482146966 | ACADS | c.1231C>A (p.Arg411=) c.1219C>A (p.Arg407=) | gnomAD v4 |
| 12 | g.120739440C= | CA2067555873 | ACADS | c.1231C= (p.Arg411=) c.1219C= (p.Arg407=) | |
| 12 | g.120739440C>G | CA386602049 | ACADS | c.1231C>G (p.Arg411Gly) c.1219C>G (p.Arg407Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739440C>T | CA244495699 | ACADS | c.1231C>T (p.Arg411Trp) c.1219C>T (p.Arg407Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739441G>A | CA6831250 | ACADS | c.1232G>A (p.Arg411Gln) c.1220G>A (p.Arg407Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739441G>C | CA386602051 | ACADS | c.1232G>C (p.Arg411Pro) c.1220G>C (p.Arg407Pro) | |
| 12 | g.120739441G= | CA2067555874 | ACADS | c.1232G= (p.Arg411=) c.1220G= (p.Arg407=) | |
| 12 | g.120739441G>T | CA386602050 | ACADS | c.1232G>T (p.Arg411Leu) c.1220G>T (p.Arg407Leu) | |
| 12 | g.120739442G>A | CA482146967 | ACADS | c.1233G>A (p.Arg411=) c.1221G>A (p.Arg407=) | |
| 12 | g.120739442G>C | CA482146968 | ACADS | c.1233G>C (p.Arg411=) c.1221G>C (p.Arg407=) | |
| 12 | g.120739442G>T | CA482146969 | ACADS | c.1233G>T (p.Arg411=) c.1221G>T (p.Arg407=) | gnomAD v4 |
| 12 | g.120739443A>C | CA386602052 | ACADS | c.1234A>C (p.Ser412Arg) c.1222A>C (p.Ser408Arg) | |
| 12 | g.120739443A>G | CA386602053 | ACADS | c.1234A>G (p.Ser412Gly) c.1222A>G (p.Ser408Gly) | |
| 12 | g.120739443A>T | CA386602054 | ACADS | c.1234A>T (p.Ser412Cys) c.1222A>T (p.Ser408Cys) | |
| 12 | g.120739444G>A | CA386602055 | ACADS | c.1235G>A (p.Ser412Asn) c.1223G>A (p.Ser408Asn) | gnomAD v4 |
| 12 | g.120739444G>C | CA386602056 | ACADS | c.1235G>C (p.Ser412Thr) c.1223G>C (p.Ser408Thr) | |
| 12 | g.120739444G>T | CA386602057 | ACADS | c.1235G>T (p.Ser412Ile) c.1223G>T (p.Ser408Ile) | gnomAD v4 |
| 12 | g.120739445C>A | CA386602058 | ACADS | c.1236C>A (p.Ser412Arg) c.1224C>A (p.Ser408Arg) | |
| 12 | g.120739445C>G | CA386602059 | ACADS | c.1236C>G (p.Ser412Arg) c.1224C>G (p.Ser408Arg) | gnomAD v4 |
| 12 | g.120739445C>T | CA482146970 | ACADS | c.1236C>T (p.Ser412=) c.1224C>T (p.Ser408=) | |
| 12 | g.120739446T>A | CA386602060 | ACADS | c.1237T>A (p.Ter413Arg) c.1225T>A (p.Ter409Arg) | |
| 12 | g.120739446T>C | CA386602061 | ACADS | c.1237T>C (p.Ter413Arg) c.1225T>C (p.Ter409Arg) | gnomAD v4 |
| 12 | g.120739446T>G | CA386602062 | ACADS | c.1237T>G (p.Ter413Gly) c.1225T>G (p.Ter409Gly) | |
| 12 | g.120739447G>A | CA482146971 | ACADS | c.1238G>A (p.Ter413=) c.1226G>A (p.Ter409=) | gnomAD v4 |
| 12 | g.120739447G>C | CA386602063 | ACADS | c.1238G>C (p.Ter413Ser) c.1226G>C (p.Ter409Ser) | |
| 12 | g.120739447G>T | CA386602064 | ACADS | c.1238G>T (p.Ter413Leu) c.1226G>T (p.Ter409Leu) | gnomAD v4 |