WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359613_19359620del | CA2573055208 | PDHA1 | c.1154_1161del (p.Arg385GlnfsTer7) c.*825_*832del (n.*825_*832del) c.1217_1224del (p.Arg406GlnfsTer7) c.1247_1254del (p.Arg416GlnfsTer7) n.928_935del c.*465_*472del (n.*465_*472del) c.*588_*595del (n.*588_*595del) c.1133_1140del (p.Arg378GlnfsTer7) c.290_297del (p.Arg97GlnfsTer7) n.572_579del c.1040_1047del (p.Arg347GlnfsTer7) c.1268_1275del (p.Arg423GlnfsTer7) c.1175_1182del (p.Arg392GlnfsTer7) | ClinVar dbSNP |
| X | g.19359614T>A | CA515486475 | PDHA1 | c.1155T>A (p.Arg385=) c.*826T>A (n.*826T>A) c.1218T>A (p.Arg406=) c.1248T>A (p.Arg416=) n.929T>A c.*466T>A (n.*466T>A) c.*589T>A (n.*589T>A) c.1134T>A (p.Arg378=) c.291T>A (p.Arg97=) n.573T>A c.1041T>A (p.Arg347=) c.1269T>A (p.Arg423=) c.1176T>A (p.Arg392=) | gnomAD v3 gnomAD v4 |
| X | g.19359614T>C | CA515486476 | PDHA1 | c.1155T>C (p.Arg385=) c.*826T>C (n.*826T>C) c.1218T>C (p.Arg406=) c.1248T>C (p.Arg416=) n.929T>C c.*466T>C (n.*466T>C) c.*589T>C (n.*589T>C) c.1134T>C (p.Arg378=) c.291T>C (p.Arg97=) n.573T>C c.1041T>C (p.Arg347=) c.1269T>C (p.Arg423=) c.1176T>C (p.Arg392=) | |
| X | g.19359614T>G | CA515486477 | PDHA1 | c.1155T>G (p.Arg385=) c.*826T>G (n.*826T>G) c.1218T>G (p.Arg406=) c.1248T>G (p.Arg416=) n.929T>G c.*466T>G (n.*466T>G) c.*589T>G (n.*589T>G) c.1134T>G (p.Arg378=) c.291T>G (p.Arg97=) n.573T>G c.1041T>G (p.Arg347=) c.1269T>G (p.Arg423=) c.1176T>G (p.Arg392=) | |
| X | g.19359615G>A | CA412397120 | PDHA1 | c.1156G>A (p.Gly386Ser) c.*827G>A (n.*827G>A) c.1219G>A (p.Gly407Ser) c.1249G>A (p.Gly417Ser) n.930G>A c.*467G>A (n.*467G>A) c.*590G>A (n.*590G>A) c.1135G>A (p.Gly379Ser) c.292G>A (p.Gly98Ser) n.574G>A c.1042G>A (p.Gly348Ser) c.1270G>A (p.Gly424Ser) c.1177G>A (p.Gly393Ser) | |
| X | g.19359615G>C | CA412397123 | PDHA1 | c.1156G>C (p.Gly386Arg) c.*827G>C (n.*827G>C) c.1219G>C (p.Gly407Arg) c.1249G>C (p.Gly417Arg) n.930G>C c.*467G>C (n.*467G>C) c.*590G>C (n.*590G>C) c.1135G>C (p.Gly379Arg) c.292G>C (p.Gly98Arg) n.574G>C c.1042G>C (p.Gly348Arg) c.1270G>C (p.Gly424Arg) c.1177G>C (p.Gly393Arg) | |
| X | g.19359615G>T | CA412397125 | PDHA1 | c.1156G>T (p.Gly386Cys) c.*827G>T (n.*827G>T) c.1219G>T (p.Gly407Cys) c.1249G>T (p.Gly417Cys) n.930G>T c.*467G>T (n.*467G>T) c.*590G>T (n.*590G>T) c.1135G>T (p.Gly379Cys) c.292G>T (p.Gly98Cys) n.574G>T c.1042G>T (p.Gly348Cys) c.1270G>T (p.Gly424Cys) c.1177G>T (p.Gly393Cys) | |
| X | g.19359616G>A | CA412397136 | PDHA1 | c.1157G>A (p.Gly386Asp) c.*828G>A (n.*828G>A) c.1220G>A (p.Gly407Asp) c.1250G>A (p.Gly417Asp) n.931G>A c.*468G>A (n.*468G>A) c.*591G>A (n.*591G>A) c.1136G>A (p.Gly379Asp) c.293G>A (p.Gly98Asp) n.575G>A c.1043G>A (p.Gly348Asp) c.1271G>A (p.Gly424Asp) c.1178G>A (p.Gly393Asp) | |
| X | g.19359616G>C | CA412397130 | PDHA1 | c.1157G>C (p.Gly386Ala) c.*828G>C (n.*828G>C) c.1220G>C (p.Gly407Ala) c.1250G>C (p.Gly417Ala) n.931G>C c.*468G>C (n.*468G>C) c.*591G>C (n.*591G>C) c.1136G>C (p.Gly379Ala) c.293G>C (p.Gly98Ala) n.575G>C c.1043G>C (p.Gly348Ala) c.1271G>C (p.Gly424Ala) c.1178G>C (p.Gly393Ala) | |
| X | g.19359616G>T | CA412397133 | PDHA1 | c.1157G>T (p.Gly386Val) c.*828G>T (n.*828G>T) c.1220G>T (p.Gly407Val) c.1250G>T (p.Gly417Val) n.931G>T c.*468G>T (n.*468G>T) c.*591G>T (n.*591G>T) c.1136G>T (p.Gly379Val) c.293G>T (p.Gly98Val) n.575G>T c.1043G>T (p.Gly348Val) c.1271G>T (p.Gly424Val) c.1178G>T (p.Gly393Val) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.19359617T>A | CA515486478 | PDHA1 | c.1158T>A (p.Gly386=) c.*829T>A (n.*829T>A) c.1221T>A (p.Gly407=) c.1251T>A (p.Gly417=) n.932T>A c.*469T>A (n.*469T>A) c.*592T>A (n.*592T>A) c.1137T>A (p.Gly379=) c.294T>A (p.Gly98=) n.576T>A c.1044T>A (p.Gly348=) c.1272T>A (p.Gly424=) c.1179T>A (p.Gly393=) | |
| X | g.19359617T>C | CA10363218 | PDHA1 | c.1158T>C (p.Gly386=) c.*829T>C (n.*829T>C) c.1221T>C (p.Gly407=) c.1251T>C (p.Gly417=) n.932T>C c.*469T>C (n.*469T>C) c.*592T>C (n.*592T>C) c.1137T>C (p.Gly379=) c.294T>C (p.Gly98=) n.576T>C c.1044T>C (p.Gly348=) c.1272T>C (p.Gly424=) c.1179T>C (p.Gly393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359617T>G | CA515486479 | PDHA1 | c.1158T>G (p.Gly386=) c.*829T>G (n.*829T>G) c.1221T>G (p.Gly407=) c.1251T>G (p.Gly417=) n.932T>G c.*469T>G (n.*469T>G) c.*592T>G (n.*592T>G) c.1137T>G (p.Gly379=) c.294T>G (p.Gly98=) n.576T>G c.1044T>G (p.Gly348=) c.1272T>G (p.Gly424=) c.1179T>G (p.Gly393=) | |
| X | g.19359617T= | CA2418225609 | PDHA1 | c.1158T= (p.Gly386=) c.*829T= (n.*829T=) c.1221T= (p.Gly407=) c.1251T= (p.Gly417=) n.932T= c.*469T= (n.*469T=) c.*592T= (n.*592T=) c.1137T= (p.Gly379=) c.294T= (p.Gly98=) n.576T= c.1044T= (p.Gly348=) c.1272T= (p.Gly424=) c.1179T= (p.Gly393=) | |
| X | g.19359618G>A | CA412397143 | PDHA1 | c.1159G>A (p.Ala387Thr) c.*830G>A (n.*830G>A) c.1222G>A (p.Ala408Thr) c.1252G>A (p.Ala418Thr) n.933G>A c.*470G>A (n.*470G>A) c.*593G>A (n.*593G>A) c.1138G>A (p.Ala380Thr) c.295G>A (p.Ala99Thr) n.577G>A c.1045G>A (p.Ala349Thr) c.1273G>A (p.Ala425Thr) c.1180G>A (p.Ala394Thr) | |
| X | g.19359618G>C | CA412397146 | PDHA1 | c.1159G>C (p.Ala387Pro) c.*830G>C (n.*830G>C) c.1222G>C (p.Ala408Pro) c.1252G>C (p.Ala418Pro) n.933G>C c.*470G>C (n.*470G>C) c.*593G>C (n.*593G>C) c.1138G>C (p.Ala380Pro) c.295G>C (p.Ala99Pro) n.577G>C c.1045G>C (p.Ala349Pro) c.1273G>C (p.Ala425Pro) c.1180G>C (p.Ala394Pro) | |
| X | g.19359618G>T | CA412397149 | PDHA1 | c.1159G>T (p.Ala387Ser) c.*830G>T (n.*830G>T) c.1222G>T (p.Ala408Ser) c.1252G>T (p.Ala418Ser) n.933G>T c.*470G>T (n.*470G>T) c.*593G>T (n.*593G>T) c.1138G>T (p.Ala380Ser) c.295G>T (p.Ala99Ser) n.577G>T c.1045G>T (p.Ala349Ser) c.1273G>T (p.Ala425Ser) c.1180G>T (p.Ala394Ser) | |
| X | g.19359619C>A | CA412397157 | PDHA1 | c.1160C>A (p.Ala387Asp) c.*831C>A (n.*831C>A) c.1223C>A (p.Ala408Asp) c.1253C>A (p.Ala418Asp) n.934C>A c.*471C>A (n.*471C>A) c.*594C>A (n.*594C>A) c.1139C>A (p.Ala380Asp) c.296C>A (p.Ala99Asp) n.578C>A c.1046C>A (p.Ala349Asp) c.1274C>A (p.Ala425Asp) c.1181C>A (p.Ala394Asp) | |
| X | g.19359619C= | CA2418225610 | PDHA1 | c.1160C= (p.Ala387=) c.*831C= (n.*831C=) c.1223C= (p.Ala408=) c.1253C= (p.Ala418=) n.934C= c.*471C= (n.*471C=) c.*594C= (n.*594C=) c.1139C= (p.Ala380=) c.296C= (p.Ala99=) n.578C= c.1046C= (p.Ala349=) c.1274C= (p.Ala425=) c.1181C= (p.Ala394=) | |
| X | g.19359619C>G | CA412397161 | PDHA1 | c.1160C>G (p.Ala387Gly) c.*831C>G (n.*831C>G) c.1223C>G (p.Ala408Gly) c.1253C>G (p.Ala418Gly) n.934C>G c.*471C>G (n.*471C>G) c.*594C>G (n.*594C>G) c.1139C>G (p.Ala380Gly) c.296C>G (p.Ala99Gly) n.578C>G c.1046C>G (p.Ala349Gly) c.1274C>G (p.Ala425Gly) c.1181C>G (p.Ala394Gly) | |
| X | g.19359619C>T | CA412397163 | PDHA1 | c.1160C>T (p.Ala387Val) c.*831C>T (n.*831C>T) c.1223C>T (p.Ala408Val) c.1253C>T (p.Ala418Val) n.934C>T c.*471C>T (n.*471C>T) c.*594C>T (n.*594C>T) c.1139C>T (p.Ala380Val) c.296C>T (p.Ala99Val) n.578C>T c.1046C>T (p.Ala349Val) c.1274C>T (p.Ala425Val) c.1181C>T (p.Ala394Val) | gnomAD v4 |
| X | g.19359619_19359622dup | CA2695231676 | PDHA1 | c.1160_1163dup (p.Trp390SerfsTer6) c.*831_*834dup (n.*831_*834dup) c.1223_1226dup (p.Trp411SerfsTer6) c.1253_1256dup (p.Trp421SerfsTer6) n.934_937dup c.*471_*474dup (n.*471_*474dup) c.*594_*597dup (n.*594_*597dup) c.1139_1142dup (p.Trp383SerfsTer6) c.296_299dup (p.Trp102SerfsTer6) n.578_581dup c.1046_1049dup (p.Trp352SerfsTer6) c.1274_1277dup (p.Trp428SerfsTer6) c.1181_1184dup (p.Trp397SerfsTer6) | |
| X | g.19359620C>A | CA515486481 | PDHA1 | c.1161C>A (p.Ala387=) c.*832C>A (n.*832C>A) c.1224C>A (p.Ala408=) c.1254C>A (p.Ala418=) n.935C>A c.*472C>A (n.*472C>A) c.*595C>A (n.*595C>A) c.1140C>A (p.Ala380=) c.297C>A (p.Ala99=) n.579C>A c.1047C>A (p.Ala349=) c.1275C>A (p.Ala425=) c.1182C>A (p.Ala394=) | |
| X | g.19359620C>G | CA515486482 | PDHA1 | c.1161C>G (p.Ala387=) c.*832C>G (n.*832C>G) c.1224C>G (p.Ala408=) c.1254C>G (p.Ala418=) n.935C>G c.*472C>G (n.*472C>G) c.*595C>G (n.*595C>G) c.1140C>G (p.Ala380=) c.297C>G (p.Ala99=) n.579C>G c.1047C>G (p.Ala349=) c.1275C>G (p.Ala425=) c.1182C>G (p.Ala394=) | |
| X | g.19359620C>T | CA515486480 | PDHA1 | c.1161C>T (p.Ala387=) c.*832C>T (n.*832C>T) c.1224C>T (p.Ala408=) c.1254C>T (p.Ala418=) n.935C>T c.*472C>T (n.*472C>T) c.*595C>T (n.*595C>T) c.1140C>T (p.Ala380=) c.297C>T (p.Ala99=) n.579C>T c.1047C>T (p.Ala349=) c.1275C>T (p.Ala425=) c.1182C>T (p.Ala394=) | |
| X | g.19359622_19359625dup | CA121215 | PDHA1 | c.1163_1166dup (p.Trp390SerfsTer6) c.*834_*837dup (n.*834_*837dup) c.1226_1229dup (p.Trp411SerfsTer6) c.1256_1259dup (p.Trp421SerfsTer6) n.937_940dup c.*474_*477dup (n.*474_*477dup) c.*597_*600dup (n.*597_*600dup) c.1142_1145dup (p.Trp383SerfsTer6) c.299_302dup (p.Trp102SerfsTer6) n.581_584dup c.1049_1052dup (p.Trp352SerfsTer6) c.1277_1280dup (p.Trp428SerfsTer6) c.1184_1187dup (p.Trp397SerfsTer6) | ClinVar dbSNP |
| X | g.19359621A>C | CA412397173 | PDHA1 | c.1162A>C (p.Asn388His) c.*833A>C (n.*833A>C) c.1225A>C (p.Asn409His) c.1255A>C (p.Asn419His) n.936A>C c.*473A>C (n.*473A>C) c.*596A>C (n.*596A>C) c.1141A>C (p.Asn381His) c.298A>C (p.Asn100His) n.580A>C c.1048A>C (p.Asn350His) c.1276A>C (p.Asn426His) c.1183A>C (p.Asn395His) | |
| X | g.19359621A>G | CA412397175 | PDHA1 | c.1162A>G (p.Asn388Asp) c.*833A>G (n.*833A>G) c.1225A>G (p.Asn409Asp) c.1255A>G (p.Asn419Asp) n.936A>G c.*473A>G (n.*473A>G) c.*596A>G (n.*596A>G) c.1141A>G (p.Asn381Asp) c.298A>G (p.Asn100Asp) n.580A>G c.1048A>G (p.Asn350Asp) c.1276A>G (p.Asn426Asp) c.1183A>G (p.Asn395Asp) | |
| X | g.19359621A>T | CA412397179 | PDHA1 | c.1162A>T (p.Asn388Tyr) c.*833A>T (n.*833A>T) c.1225A>T (p.Asn409Tyr) c.1255A>T (p.Asn419Tyr) n.936A>T c.*473A>T (n.*473A>T) c.*596A>T (n.*596A>T) c.1141A>T (p.Asn381Tyr) c.298A>T (p.Asn100Tyr) n.580A>T c.1048A>T (p.Asn350Tyr) c.1276A>T (p.Asn426Tyr) c.1183A>T (p.Asn395Tyr) | |
| X | g.19359622A= | CA2418225611 | PDHA1 | c.1163A= (p.Asn388=) c.*834A= (n.*834A=) c.1226A= (p.Asn409=) c.1256A= (p.Asn419=) n.937A= c.*474A= (n.*474A=) c.*597A= (n.*597A=) c.1142A= (p.Asn381=) c.299A= (p.Asn100=) n.581A= c.1049A= (p.Asn350=) c.1277A= (p.Asn426=) c.1184A= (p.Asn395=) | |
| X | g.19359622A>C | CA412397186 | PDHA1 | c.1163A>C (p.Asn388Thr) c.*834A>C (n.*834A>C) c.1226A>C (p.Asn409Thr) c.1256A>C (p.Asn419Thr) n.937A>C c.*474A>C (n.*474A>C) c.*597A>C (n.*597A>C) c.1142A>C (p.Asn381Thr) c.299A>C (p.Asn100Thr) n.581A>C c.1049A>C (p.Asn350Thr) c.1277A>C (p.Asn426Thr) c.1184A>C (p.Asn395Thr) | |
| X | g.19359622A>G | CA412397183 | PDHA1 | c.1163A>G (p.Asn388Ser) c.*834A>G (n.*834A>G) c.1226A>G (p.Asn409Ser) c.1256A>G (p.Asn419Ser) n.937A>G c.*474A>G (n.*474A>G) c.*597A>G (n.*597A>G) c.1142A>G (p.Asn381Ser) c.299A>G (p.Asn100Ser) n.581A>G c.1049A>G (p.Asn350Ser) c.1277A>G (p.Asn426Ser) c.1184A>G (p.Asn395Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.19359622A>T | CA412397189 | PDHA1 | c.1163A>T (p.Asn388Ile) c.*834A>T (n.*834A>T) c.1226A>T (p.Asn409Ile) c.1256A>T (p.Asn419Ile) n.937A>T c.*474A>T (n.*474A>T) c.*597A>T (n.*597A>T) c.1142A>T (p.Asn381Ile) c.299A>T (p.Asn100Ile) n.581A>T c.1049A>T (p.Asn350Ile) c.1277A>T (p.Asn426Ile) c.1184A>T (p.Asn395Ile) | |
| X | g.19359626_19359633del | CA2695231677 | PDHA1 | c.1167_1174del (p.Trp390ValfsTer2) c.*838_*845del (n.*838_*845del) c.1230_1237del (p.Trp411ValfsTer2) c.1260_1267del (p.Trp421ValfsTer2) n.941_948del c.*478_*485del (n.*478_*485del) c.*601_*608del (n.*601_*608del) c.1146_1153del (p.Trp383ValfsTer2) c.303_310del (p.Trp102ValfsTer2) n.585_592del c.1053_1060del (p.Trp352ValfsTer2) c.1281_1288del (p.Trp428ValfsTer2) c.1188_1195del (p.Trp397ValfsTer2) | |
| X | g.19359623T>A | CA412397193 | PDHA1 | c.1164T>A (p.Asn388Lys) c.*835T>A (n.*835T>A) c.1227T>A (p.Asn409Lys) c.1257T>A (p.Asn419Lys) n.938T>A c.*475T>A (n.*475T>A) c.*598T>A (n.*598T>A) c.1143T>A (p.Asn381Lys) c.300T>A (p.Asn100Lys) n.582T>A c.1050T>A (p.Asn350Lys) c.1278T>A (p.Asn426Lys) c.1185T>A (p.Asn395Lys) | |
| X | g.19359623T>C | CA515486483 | PDHA1 | c.1164T>C (p.Asn388=) c.*835T>C (n.*835T>C) c.1227T>C (p.Asn409=) c.1257T>C (p.Asn419=) n.938T>C c.*475T>C (n.*475T>C) c.*598T>C (n.*598T>C) c.1143T>C (p.Asn381=) c.300T>C (p.Asn100=) n.582T>C c.1050T>C (p.Asn350=) c.1278T>C (p.Asn426=) c.1185T>C (p.Asn395=) | |
| X | g.19359623T>G | CA412397194 | PDHA1 | c.1164T>G (p.Asn388Lys) c.*835T>G (n.*835T>G) c.1227T>G (p.Asn409Lys) c.1257T>G (p.Asn419Lys) n.938T>G c.*475T>G (n.*475T>G) c.*598T>G (n.*598T>G) c.1143T>G (p.Asn381Lys) c.300T>G (p.Asn100Lys) n.582T>G c.1050T>G (p.Asn350Lys) c.1278T>G (p.Asn426Lys) c.1185T>G (p.Asn395Lys) | ClinVar |
| X | g.19359624C>A | CA412397195 | PDHA1 | c.1165C>A (p.Gln389Lys) c.*836C>A (n.*836C>A) c.1228C>A (p.Gln410Lys) c.1258C>A (p.Gln420Lys) n.939C>A c.*476C>A (n.*476C>A) c.*599C>A (n.*599C>A) c.1144C>A (p.Gln382Lys) c.301C>A (p.Gln101Lys) n.583C>A c.1051C>A (p.Gln351Lys) c.1279C>A (p.Gln427Lys) c.1186C>A (p.Gln396Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.19359624C= | CA2418225612 | PDHA1 | c.1165C= (p.Gln389=) c.*836C= (n.*836C=) c.1228C= (p.Gln410=) c.1258C= (p.Gln420=) n.939C= c.*476C= (n.*476C=) c.*599C= (n.*599C=) c.1144C= (p.Gln382=) c.301C= (p.Gln101=) n.583C= c.1051C= (p.Gln351=) c.1279C= (p.Gln427=) c.1186C= (p.Gln396=) | |
| X | g.19359624C>G | CA412397198 | PDHA1 | c.1165C>G (p.Gln389Glu) c.*836C>G (n.*836C>G) c.1228C>G (p.Gln410Glu) c.1258C>G (p.Gln420Glu) n.939C>G c.*476C>G (n.*476C>G) c.*599C>G (n.*599C>G) c.1144C>G (p.Gln382Glu) c.301C>G (p.Gln101Glu) n.583C>G c.1051C>G (p.Gln351Glu) c.1279C>G (p.Gln427Glu) c.1186C>G (p.Gln396Glu) | |
| X | g.19359624C>T | CA412397200 | PDHA1 | c.1165C>T (p.Gln389Ter) c.*836C>T (n.*836C>T) c.1228C>T (p.Gln410Ter) c.1258C>T (p.Gln420Ter) n.939C>T c.*476C>T (n.*476C>T) c.*599C>T (n.*599C>T) c.1144C>T (p.Gln382Ter) c.301C>T (p.Gln101Ter) n.583C>T c.1051C>T (p.Gln351Ter) c.1279C>T (p.Gln427Ter) c.1186C>T (p.Gln396Ter) | |
| X | g.19359624_19359639dup | CA2695231678 | PDHA1 | c.1165_1180dup (p.Lys394ThrfsTer6) c.*836_*851dup (n.*836_*851dup) c.1228_1243dup (p.Lys415ThrfsTer6) c.1258_1273dup (p.Lys425ThrfsTer6) n.939_954dup c.*476_*491dup (n.*476_*491dup) c.*599_*614dup (n.*599_*614dup) c.1144_1159dup (p.Lys387ThrfsTer6) c.301_316dup (p.Lys106ThrfsTer6) n.583_598dup c.1051_1066dup (p.Lys356ThrfsTer6) c.1279_1294dup (p.Lys432ThrfsTer6) c.1186_1201dup (p.Lys401ThrfsTer6) | |
| X | g.19359625A>C | CA412397205 | PDHA1 | c.1166A>C (p.Gln389Pro) c.*837A>C (n.*837A>C) c.1229A>C (p.Gln410Pro) c.1259A>C (p.Gln420Pro) n.940A>C c.*477A>C (n.*477A>C) c.*600A>C (n.*600A>C) c.1145A>C (p.Gln382Pro) c.302A>C (p.Gln101Pro) n.584A>C c.1052A>C (p.Gln351Pro) c.1280A>C (p.Gln427Pro) c.1187A>C (p.Gln396Pro) | |
| X | g.19359625A>G | CA412397209 | PDHA1 | c.1166A>G (p.Gln389Arg) c.*837A>G (n.*837A>G) c.1229A>G (p.Gln410Arg) c.1259A>G (p.Gln420Arg) n.940A>G c.*477A>G (n.*477A>G) c.*600A>G (n.*600A>G) c.1145A>G (p.Gln382Arg) c.302A>G (p.Gln101Arg) n.584A>G c.1052A>G (p.Gln351Arg) c.1280A>G (p.Gln427Arg) c.1187A>G (p.Gln396Arg) | |
| X | g.19359625A>T | CA412397212 | PDHA1 | c.1166A>T (p.Gln389Leu) c.*837A>T (n.*837A>T) c.1229A>T (p.Gln410Leu) c.1259A>T (p.Gln420Leu) n.940A>T c.*477A>T (n.*477A>T) c.*600A>T (n.*600A>T) c.1145A>T (p.Gln382Leu) c.302A>T (p.Gln101Leu) n.584A>T c.1052A>T (p.Gln351Leu) c.1280A>T (p.Gln427Leu) c.1187A>T (p.Gln396Leu) | |
| X | g.19359626G>A | CA515486484 | PDHA1 | c.1167G>A (p.Gln389=) c.*838G>A (n.*838G>A) c.1230G>A (p.Gln410=) c.1260G>A (p.Gln420=) n.941G>A c.*478G>A (n.*478G>A) c.*601G>A (n.*601G>A) c.1146G>A (p.Gln382=) c.303G>A (p.Gln101=) n.585G>A c.1053G>A (p.Gln351=) c.1281G>A (p.Gln427=) c.1188G>A (p.Gln396=) | ClinVar dbSNP gnomAD v4 |
| X | g.19359626G>C | CA10363219 | PDHA1 | c.1167G>C (p.Gln389His) c.*838G>C (n.*838G>C) c.1230G>C (p.Gln410His) c.1260G>C (p.Gln420His) n.941G>C c.*478G>C (n.*478G>C) c.*601G>C (n.*601G>C) c.1146G>C (p.Gln382His) c.303G>C (p.Gln101His) n.585G>C c.1053G>C (p.Gln351His) c.1281G>C (p.Gln427His) c.1188G>C (p.Gln396His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19359626G= | CA2418225613 | PDHA1 | c.1167G= (p.Gln389=) c.*838G= (n.*838G=) c.1230G= (p.Gln410=) c.1260G= (p.Gln420=) n.941G= c.*478G= (n.*478G=) c.*601G= (n.*601G=) c.1146G= (p.Gln382=) c.303G= (p.Gln101=) n.585G= c.1053G= (p.Gln351=) c.1281G= (p.Gln427=) c.1188G= (p.Gln396=) | |
| X | g.19359626G>T | CA412397225 | PDHA1 | c.1167G>T (p.Gln389His) c.*838G>T (n.*838G>T) c.1230G>T (p.Gln410His) c.1260G>T (p.Gln420His) n.941G>T c.*478G>T (n.*478G>T) c.*601G>T (n.*601G>T) c.1146G>T (p.Gln382His) c.303G>T (p.Gln101His) n.585G>T c.1053G>T (p.Gln351His) c.1281G>T (p.Gln427His) c.1188G>T (p.Gln396His) | |
| X | g.19359627T>A | CA412397239 | PDHA1 | c.1168T>A (p.Trp390Arg) c.*839T>A (n.*839T>A) c.1231T>A (p.Trp411Arg) c.1261T>A (p.Trp421Arg) n.942T>A c.*479T>A (n.*479T>A) c.*602T>A (n.*602T>A) c.1147T>A (p.Trp383Arg) c.304T>A (p.Trp102Arg) n.586T>A c.1054T>A (p.Trp352Arg) c.1282T>A (p.Trp428Arg) c.1189T>A (p.Trp397Arg) |