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.120739246_120739254delinsTTTCCCCAC | CA2067555769 | ACADS | c.1087-50_1087-42delinsTTTCCCCAC (n.1087-50_1087-42delinsTTTCCCCAC) c.1075-50_1075-42delinsTTTCCCCAC (n.1075-50_1075-42delinsTTTCCCCAC) | |
| 12 | g.120739247T>A | CA608059978 | ACADS | c.1087-49T>A (n.1087-49T>A) c.1075-49T>A (n.1075-49T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739247T= | CA2067555771 | ACADS | c.1087-49T= (n.1087-49T=) c.1075-49T= (n.1075-49T=) | |
| 12 | g.120739247_120739254del | CA2067555770 | ACADS | c.1087-49_1087-42del (n.1087-49_1087-42del) c.1075-49_1075-42del (n.1075-49_1075-42del) | dbSNP |
| 12 | g.120739248T>G | CA2621370264 | ACADS | c.1087-48T>G (n.1087-48T>G) c.1075-48T>G (n.1075-48T>G) | gnomAD v4 |
| 12 | g.120739252del | CA2621370265 | ACADS | c.1087-44del (n.1087-44del) c.1075-44del (n.1075-44del) | gnomAD v4 |
| 12 | g.120739250C>T | CA2797705128 | ACADS | c.1087-46C>T (n.1087-46C>T) c.1075-46C>T (n.1075-46C>T) | |
| 12 | g.120739251C= | CA2067555772 | ACADS | c.1087-45C= (n.1087-45C=) c.1075-45C= (n.1075-45C=) | |
| 12 | g.120739251C>T | CA2067555773 | ACADS | c.1087-45C>T (n.1087-45C>T) c.1075-45C>T (n.1075-45C>T) | dbSNP |
| 12 | g.120739252C>T | CA2621370266 | ACADS | c.1087-44C>T (n.1087-44C>T) c.1075-44C>T (n.1075-44C>T) | gnomAD v4 |
| 12 | g.120739254C>A | CA2621370269 | ACADS | c.1087-42C>A (n.1087-42C>A) c.1075-42C>A (n.1075-42C>A) | dbSNP gnomAD v4 |
| 12 | g.120739254C= | CA2067555774 | ACADS | c.1087-42C= (n.1087-42C=) c.1075-42C= (n.1075-42C=) | |
| 12 | g.120739254C>T | CA6831212 | ACADS | c.1087-42C>T (n.1087-42C>T) c.1075-42C>T (n.1075-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739255G>A | CA2575321548 | ACADS | c.1087-41G>A (n.1087-41G>A) c.1075-41G>A (n.1075-41G>A) | dbSNP gnomAD v4 |
| 12 | g.120739257C= | CA2067555775 | ACADS | c.1087-39C= (n.1087-39C=) c.1075-39C= (n.1075-39C=) | |
| 12 | g.120739257C>T | CA6831213 | ACADS | c.1087-39C>T (n.1087-39C>T) c.1075-39C>T (n.1075-39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739258G>A | CA6831214 | ACADS | c.1087-38G>A (n.1087-38G>A) c.1075-38G>A (n.1075-38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739258G= | CA2067555776 | ACADS | c.1087-38G= (n.1087-38G=) c.1075-38G= (n.1075-38G=) | |
| 12 | g.120739259G>A | CA2575321549 | ACADS | c.1087-37G>A (n.1087-37G>A) c.1075-37G>A (n.1075-37G>A) | |
| 12 | g.120739259G>C | CA2621370278 | ACADS | c.1087-37G>C (n.1087-37G>C) c.1075-37G>C (n.1075-37G>C) | gnomAD v4 |
| 12 | g.120739261G= | CA2067555777 | ACADS | c.1087-35G= (n.1087-35G=) c.1075-35G= (n.1075-35G=) | |
| 12 | g.120739261G>T | CA6831215 | ACADS | c.1087-35G>T (n.1087-35G>T) c.1075-35G>T (n.1075-35G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739263C>T | CA2621370280 | ACADS | c.1087-33C>T (n.1087-33C>T) c.1075-33C>T (n.1075-33C>T) | gnomAD v4 |
| 12 | g.120739266C>T | CA2621370281 | ACADS | c.1087-30C>T (n.1087-30C>T) c.1075-30C>T (n.1075-30C>T) | gnomAD v4 |
| 12 | g.120739268C= | CA2067555778 | ACADS | c.1087-28C= (n.1087-28C=) c.1075-28C= (n.1075-28C=) | |
| 12 | g.120739268C>G | CA6831216 | ACADS | c.1087-28C>G (n.1087-28C>G) c.1075-28C>G (n.1075-28C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739268_120739303dup | CA2621370282 | ACADS | c.1087-28_1094dup c.1075-28_1082dup | gnomAD v4 |
| 12 | g.120739270C>A | CA2797705132 | ACADS | c.1087-26C>A (n.1087-26C>A) c.1075-26C>A (n.1075-26C>A) | |
| 12 | g.120739270C>T | CA2575321550 | ACADS | c.1087-26C>T (n.1087-26C>T) c.1075-26C>T (n.1075-26C>T) | |
| 12 | g.120739271T>C | CA2621370284 | ACADS | c.1087-25T>C (n.1087-25T>C) c.1075-25T>C (n.1075-25T>C) | gnomAD v4 |
| 12 | g.120739271T>G | CA608059979 | ACADS | c.1087-25T>G (n.1087-25T>G) c.1075-25T>G (n.1075-25T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739271T= | CA2067555779 | ACADS | c.1087-25T= (n.1087-25T=) c.1075-25T= (n.1075-25T=) | |
| 12 | g.120739272C>A | CA608059980 | ACADS | c.1087-24C>A (n.1087-24C>A) c.1075-24C>A (n.1075-24C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739272C= | CA2067555780 | ACADS | c.1087-24C= (n.1087-24C=) c.1075-24C= (n.1075-24C=) | |
| 12 | g.120739273C>A | CA2741293979 | ACADS | c.1087-23C>A (n.1087-23C>A) c.1075-23C>A (n.1075-23C>A) | |
| 12 | g.120739273C= | CA2067555781 | ACADS | c.1087-23C= (n.1087-23C=) c.1075-23C= (n.1075-23C=) | |
| 12 | g.120739273C>T | CA684419028 | ACADS | c.1087-23C>T (n.1087-23C>T) c.1075-23C>T (n.1075-23C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739274T>A | CA6831217 | ACADS | c.1087-22T>A (n.1087-22T>A) c.1075-22T>A (n.1075-22T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739274T= | CA2067555782 | ACADS | c.1087-22T= (n.1087-22T=) c.1075-22T= (n.1075-22T=) | |
| 12 | g.120739275G>A | CA244495319 | ACADS | c.1087-21G>A (n.1087-21G>A) c.1075-21G>A (n.1075-21G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120739275G= | CA2067555783 | ACADS | c.1087-21G= (n.1087-21G=) c.1075-21G= (n.1075-21G=) | |
| 12 | g.120739277G>A | CA684419032 | ACADS | c.1087-19G>A (n.1087-19G>A) c.1075-19G>A (n.1075-19G>A) | dbSNP |
| 12 | g.120739277G= | CA2067555784 | ACADS | c.1087-19G= (n.1087-19G=) c.1075-19G= (n.1075-19G=) | |
| 12 | g.120739278C>A | CA2797705133 | ACADS | c.1087-18C>A (n.1087-18C>A) c.1075-18C>A (n.1075-18C>A) | |
| 12 | g.120739278C= | CA2067555785 | ACADS | c.1087-18C= (n.1087-18C=) c.1075-18C= (n.1075-18C=) | |
| 12 | g.120739278C>G | CA952544235 | ACADS | c.1087-18C>G (n.1087-18C>G) c.1075-18C>G (n.1075-18C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739278C>T | CA2575321551 | ACADS | c.1087-18C>T (n.1087-18C>T) c.1075-18C>T (n.1075-18C>T) | |
| 12 | g.120739279C>A | CA6831218 | ACADS | c.1087-17C>A (n.1087-17C>A) c.1075-17C>A (n.1075-17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739279C= | CA2067555786 | ACADS | c.1087-17C= (n.1087-17C=) c.1075-17C= (n.1075-17C=) | |
| 12 | g.120739280A>G | CA2621370292 | ACADS | c.1087-16A>G (n.1087-16A>G) c.1075-16A>G (n.1075-16A>G) | gnomAD v4 |
| 12 | g.120739280A>T | CA2727324212 | ACADS | c.1087-16A>T (n.1087-16A>T) c.1075-16A>T (n.1075-16A>T) | dbSNP |
| 12 | g.120739281C>G | CA2740089960 | ACADS | c.1087-15C>G (n.1087-15C>G) c.1075-15C>G (n.1075-15C>G) | |
| 12 | g.120739281C>T | CA2621370293 | ACADS | c.1087-15C>T (n.1087-15C>T) c.1075-15C>T (n.1075-15C>T) | gnomAD v4 |
| 12 | g.120739282T>C | CA608059981 | ACADS | c.1087-14T>C (n.1087-14T>C) c.1075-14T>C (n.1075-14T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739282T= | CA2067555787 | ACADS | c.1087-14T= (n.1087-14T=) c.1075-14T= (n.1075-14T=) | |
| 12 | g.120739284T>G | CA2621370295 | ACADS | c.1087-12T>G (n.1087-12T>G) c.1075-12T>G (n.1075-12T>G) | gnomAD v4 |
| 12 | g.120739286C= | CA2067555788 | ACADS | c.1087-10C= (n.1087-10C=) c.1075-10C= (n.1075-10C=) | |
| 12 | g.120739286C>G | CA2621370296 | ACADS | c.1087-10C>G (n.1087-10C>G) c.1075-10C>G (n.1075-10C>G) | gnomAD v4 |
| 12 | g.120739286C>T | CA2067555789 | ACADS | c.1087-10C>T (n.1087-10C>T) c.1075-10C>T (n.1075-10C>T) | dbSNP |
| 12 | g.120739287T>C | CA6831219 | ACADS | c.1087-9T>C (n.1087-9T>C) c.1075-9T>C (n.1075-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739287T= | CA2067555790 | ACADS | c.1087-9T= (n.1087-9T=) c.1075-9T= (n.1075-9T=) | |
| 12 | g.120739288C>A | CA2621370300 | ACADS | c.1087-8C>A (n.1087-8C>A) c.1075-8C>A (n.1075-8C>A) | gnomAD v4 |
| 12 | g.120739288C= | CA2067555791 | ACADS | c.1087-8C= (n.1087-8C=) c.1075-8C= (n.1075-8C=) | |
| 12 | g.120739288C>T | CA2067555792 | ACADS | c.1087-8C>T (n.1087-8C>T) c.1075-8C>T (n.1075-8C>T) | dbSNP gnomAD v4 |
| 12 | g.120739289A>G | CA2621370302 | ACADS | c.1087-7A>G (n.1087-7A>G) c.1075-7A>G (n.1075-7A>G) | gnomAD v4 |
| 12 | g.120739290T>A | CA6831220 | ACADS | c.1087-6T>A (n.1087-6T>A) c.1075-6T>A (n.1075-6T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739290T= | CA2067555793 | ACADS | c.1087-6T= (n.1087-6T=) c.1075-6T= (n.1075-6T=) | |
| 12 | g.120739294A>C | CA386601749 | ACADS | c.1087-2A>C (n.1087-2A>C) c.1075-2A>C (n.1075-2A>C) | |
| 12 | g.120739294A>G | CA386601751 | ACADS | c.1087-2A>G (n.1087-2A>G) c.1075-2A>G (n.1075-2A>G) | |
| 12 | g.120739294A>T | CA386601750 | ACADS | c.1087-2A>T (n.1087-2A>T) c.1075-2A>T (n.1075-2A>T) | |
| 12 | g.120739295G>A | CA386601752 | ACADS | c.1087-1G>A (n.1087-1G>A) c.1075-1G>A (n.1075-1G>A) | |
| 12 | g.120739295G>C | CA386601754 | ACADS | c.1087-1G>C (n.1087-1G>C) c.1075-1G>C (n.1075-1G>C) | |
| 12 | g.120739295G>T | CA386601753 | ACADS | c.1087-1G>T (n.1087-1G>T) c.1075-1G>T (n.1075-1G>T) | |
| 12 | g.120739296G>A | CA386601755 | ACADS | c.1087G>A (p.Ala363Thr) c.1075G>A (p.Ala359Thr) | |
| 12 | g.120739296G>C | CA386601757 | ACADS | c.1087G>C (p.Ala363Pro) c.1075G>C (p.Ala359Pro) | |
| 12 | g.120739296G>T | CA386601756 | ACADS | c.1087G>T (p.Ala363Ser) c.1075G>T (p.Ala359Ser) | |
| 12 | g.120739297C>A | CA386601758 | ACADS | c.1088C>A (p.Ala363Asp) c.1076C>A (p.Ala359Asp) | gnomAD v4 |
| 12 | g.120739297C>G | CA386601759 | ACADS | c.1088C>G (p.Ala363Gly) c.1076C>G (p.Ala359Gly) | |
| 12 | g.120739297C>T | CA386601760 | ACADS | c.1088C>T (p.Ala363Val) c.1076C>T (p.Ala359Val) | |
| 12 | g.120739298C>A | CA482146892 | ACADS | c.1089C>A (p.Ala363=) c.1077C>A (p.Ala359=) | |
| 12 | g.120739298C= | CA2067555794 | ACADS | c.1089C= (p.Ala363=) c.1077C= (p.Ala359=) | |
| 12 | g.120739298C>G | CA482146893 | ACADS | c.1089C>G (p.Ala363=) c.1077C>G (p.Ala359=) | dbSNP |
| 12 | g.120739298C>T | CA482146894 | ACADS | c.1089C>T (p.Ala363=) c.1077C>T (p.Ala359=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120739299A>C | CA386601761 | ACADS | c.1090A>C (p.Ile364Leu) c.1078A>C (p.Ile360Leu) | |
| 12 | g.120739299A>G | CA386601762 | ACADS | c.1090A>G (p.Ile364Val) c.1078A>G (p.Ile360Val) | |
| 12 | g.120739299A>T | CA386601763 | ACADS | c.1090A>T (p.Ile364Phe) c.1078A>T (p.Ile360Phe) | |
| 12 | g.120739300T>A | CA386601764 | ACADS | c.1091T>A (p.Ile364Asn) c.1079T>A (p.Ile360Asn) | |
| 12 | g.120739300T>C | CA386601765 | ACADS | c.1091T>C (p.Ile364Thr) c.1079T>C (p.Ile360Thr) | |
| 12 | g.120739300T>G | CA386601766 | ACADS | c.1091T>G (p.Ile364Ser) c.1079T>G (p.Ile360Ser) | |
| 12 | g.120739301C>A | CA482146896 | ACADS | c.1092C>A (p.Ile364=) c.1080C>A (p.Ile360=) | |
| 12 | g.120739301C>G | CA386601767 | ACADS | c.1092C>G (p.Ile364Met) c.1080C>G (p.Ile360Met) | |
| 12 | g.120739301C>T | CA482146898 | ACADS | c.1092C>T (p.Ile364=) c.1080C>T (p.Ile360=) | |
| 12 | g.120739302C>A | CA386601770 | ACADS | c.1093C>A (p.Gln365Lys) c.1081C>A (p.Gln361Lys) | |
| 12 | g.120739302C>G | CA386601769 | ACADS | c.1093C>G (p.Gln365Glu) c.1081C>G (p.Gln361Glu) | gnomAD v4 |
| 12 | g.120739302C>T | CA386601768 | ACADS | c.1093C>T (p.Gln365Ter) c.1081C>T (p.Gln361Ter) | |
| 12 | g.120739303A>C | CA386601771 | ACADS | c.1094A>C (p.Gln365Pro) c.1082A>C (p.Gln361Pro) | |
| 12 | g.120739303A>G | CA386601772 | ACADS | c.1094A>G (p.Gln365Arg) c.1082A>G (p.Gln361Arg) | |
| 12 | g.120739303A>T | CA386601773 | ACADS | c.1094A>T (p.Gln365Leu) c.1082A>T (p.Gln361Leu) | |
| 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 |
| 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) | |
| 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 |