| 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.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) | |
| X | g.19359627T>C | CA412397236 | PDHA1 | c.1168T>C (p.Trp390Arg) c.*839T>C (n.*839T>C) c.1231T>C (p.Trp411Arg) c.1261T>C (p.Trp421Arg) n.942T>C c.*479T>C (n.*479T>C) c.*602T>C (n.*602T>C) c.1147T>C (p.Trp383Arg) c.304T>C (p.Trp102Arg) n.586T>C c.1054T>C (p.Trp352Arg) c.1282T>C (p.Trp428Arg) c.1189T>C (p.Trp397Arg) | |
| X | g.19359627T>G | CA412397229 | PDHA1 | c.1168T>G (p.Trp390Gly) c.*839T>G (n.*839T>G) c.1231T>G (p.Trp411Gly) c.1261T>G (p.Trp421Gly) n.942T>G c.*479T>G (n.*479T>G) c.*602T>G (n.*602T>G) c.1147T>G (p.Trp383Gly) c.304T>G (p.Trp102Gly) n.586T>G c.1054T>G (p.Trp352Gly) c.1282T>G (p.Trp428Gly) c.1189T>G (p.Trp397Gly) | |
| X | g.19359627_19359638dup | CA2695231679 | PDHA1 | c.1168_1179dup (p.Phe393_Lys394insTrpIleLysPhe) c.*839_*850dup (n.*839_*850dup) c.1231_1242dup (p.Phe414_Lys415insTrpIleLysPhe) c.1261_1272dup (p.Phe424_Lys425insTrpIleLysPhe) n.942_953dup c.*479_*490dup (n.*479_*490dup) c.*602_*613dup (n.*602_*613dup) c.1147_1158dup (p.Phe386_Lys387insTrpIleLysPhe) c.304_315dup (p.Phe105_Lys106insTrpIleLysPhe) n.586_597dup c.1054_1065dup (p.Phe355_Lys356insTrpIleLysPhe) c.1282_1293dup (p.Phe431_Lys432insTrpIleLysPhe) c.1189_1200dup (p.Phe400_Lys401insTrpIleLysPhe) | |
| X | g.19359628G>A | CA412397247 | PDHA1 | c.1169G>A (p.Trp390Ter) c.*840G>A (n.*840G>A) c.1232G>A (p.Trp411Ter) c.1262G>A (p.Trp421Ter) n.943G>A c.*480G>A (n.*480G>A) c.*603G>A (n.*603G>A) c.1148G>A (p.Trp383Ter) c.305G>A (p.Trp102Ter) n.587G>A c.1055G>A (p.Trp352Ter) c.1283G>A (p.Trp428Ter) c.1190G>A (p.Trp397Ter) | ClinVar |
| X | g.19359628G>C | CA412397251 | PDHA1 | c.1169G>C (p.Trp390Ser) c.*840G>C (n.*840G>C) c.1232G>C (p.Trp411Ser) c.1262G>C (p.Trp421Ser) n.943G>C c.*480G>C (n.*480G>C) c.*603G>C (n.*603G>C) c.1148G>C (p.Trp383Ser) c.305G>C (p.Trp102Ser) n.587G>C c.1055G>C (p.Trp352Ser) c.1283G>C (p.Trp428Ser) c.1190G>C (p.Trp397Ser) | |
| X | g.19359628G>T | CA412397252 | PDHA1 | c.1169G>T (p.Trp390Leu) c.*840G>T (n.*840G>T) c.1232G>T (p.Trp411Leu) c.1262G>T (p.Trp421Leu) n.943G>T c.*480G>T (n.*480G>T) c.*603G>T (n.*603G>T) c.1148G>T (p.Trp383Leu) c.305G>T (p.Trp102Leu) n.587G>T c.1055G>T (p.Trp352Leu) c.1283G>T (p.Trp428Leu) c.1190G>T (p.Trp397Leu) | |
| X | g.19359629G>A | CA412397253 | PDHA1 | c.1170G>A (p.Trp390Ter) c.*841G>A (n.*841G>A) c.1233G>A (p.Trp411Ter) c.1263G>A (p.Trp421Ter) n.944G>A c.*481G>A (n.*481G>A) c.*604G>A (n.*604G>A) c.1149G>A (p.Trp383Ter) c.306G>A (p.Trp102Ter) n.588G>A c.1056G>A (p.Trp352Ter) c.1284G>A (p.Trp428Ter) c.1191G>A (p.Trp397Ter) | ClinVar |
| X | g.19359629G>C | CA412397255 | PDHA1 | c.1170G>C (p.Trp390Cys) c.*841G>C (n.*841G>C) c.1233G>C (p.Trp411Cys) c.1263G>C (p.Trp421Cys) n.944G>C c.*481G>C (n.*481G>C) c.*604G>C (n.*604G>C) c.1149G>C (p.Trp383Cys) c.306G>C (p.Trp102Cys) n.588G>C c.1056G>C (p.Trp352Cys) c.1284G>C (p.Trp428Cys) c.1191G>C (p.Trp397Cys) | |
| X | g.19359629G>T | CA412397259 | PDHA1 | c.1170G>T (p.Trp390Cys) c.*841G>T (n.*841G>T) c.1233G>T (p.Trp411Cys) c.1263G>T (p.Trp421Cys) n.944G>T c.*481G>T (n.*481G>T) c.*604G>T (n.*604G>T) c.1149G>T (p.Trp383Cys) c.306G>T (p.Trp102Cys) n.588G>T c.1056G>T (p.Trp352Cys) c.1284G>T (p.Trp428Cys) c.1191G>T (p.Trp397Cys) | |
| X | g.19359630A= | CA2418225614 | PDHA1 | c.1171A= (p.Ile391=) c.*842A= (n.*842A=) c.1234A= (p.Ile412=) c.1264A= (p.Ile422=) n.945A= c.*482A= (n.*482A=) c.*605A= (n.*605A=) c.1150A= (p.Ile384=) c.307A= (p.Ile103=) n.589A= c.1057A= (p.Ile353=) c.1285A= (p.Ile429=) c.1192A= (p.Ile398=) | |
| X | g.19359630A>C | CA10363220 | PDHA1 | c.1171A>C (p.Ile391Leu) c.*842A>C (n.*842A>C) c.1234A>C (p.Ile412Leu) c.1264A>C (p.Ile422Leu) n.945A>C c.*482A>C (n.*482A>C) c.*605A>C (n.*605A>C) c.1150A>C (p.Ile384Leu) c.307A>C (p.Ile103Leu) n.589A>C c.1057A>C (p.Ile353Leu) c.1285A>C (p.Ile429Leu) c.1192A>C (p.Ile398Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19359630A>G | CA412397269 | PDHA1 | c.1171A>G (p.Ile391Val) c.*842A>G (n.*842A>G) c.1234A>G (p.Ile412Val) c.1264A>G (p.Ile422Val) n.945A>G c.*482A>G (n.*482A>G) c.*605A>G (n.*605A>G) c.1150A>G (p.Ile384Val) c.307A>G (p.Ile103Val) n.589A>G c.1057A>G (p.Ile353Val) c.1285A>G (p.Ile429Val) c.1192A>G (p.Ile398Val) | |
| X | g.19359630A>T | CA412397273 | PDHA1 | c.1171A>T (p.Ile391Phe) c.*842A>T (n.*842A>T) c.1234A>T (p.Ile412Phe) c.1264A>T (p.Ile422Phe) n.945A>T c.*482A>T (n.*482A>T) c.*605A>T (n.*605A>T) c.1150A>T (p.Ile384Phe) c.307A>T (p.Ile103Phe) n.589A>T c.1057A>T (p.Ile353Phe) c.1285A>T (p.Ile429Phe) c.1192A>T (p.Ile398Phe) | |
| X | g.19359631T>A | CA412397280 | PDHA1 | c.1172T>A (p.Ile391Asn) c.*843T>A (n.*843T>A) c.1235T>A (p.Ile412Asn) c.1265T>A (p.Ile422Asn) n.946T>A c.*483T>A (n.*483T>A) c.*606T>A (n.*606T>A) c.1151T>A (p.Ile384Asn) c.308T>A (p.Ile103Asn) n.590T>A c.1058T>A (p.Ile353Asn) c.1286T>A (p.Ile429Asn) c.1193T>A (p.Ile398Asn) | |
| X | g.19359631T>C | CA412397283 | PDHA1 | c.1172T>C (p.Ile391Thr) c.*843T>C (n.*843T>C) c.1235T>C (p.Ile412Thr) c.1265T>C (p.Ile422Thr) n.946T>C c.*483T>C (n.*483T>C) c.*606T>C (n.*606T>C) c.1151T>C (p.Ile384Thr) c.308T>C (p.Ile103Thr) n.590T>C c.1058T>C (p.Ile353Thr) c.1286T>C (p.Ile429Thr) c.1193T>C (p.Ile398Thr) | |
| X | g.19359631T>G | CA412397288 | PDHA1 | c.1172T>G (p.Ile391Ser) c.*843T>G (n.*843T>G) c.1235T>G (p.Ile412Ser) c.1265T>G (p.Ile422Ser) n.946T>G c.*483T>G (n.*483T>G) c.*606T>G (n.*606T>G) c.1151T>G (p.Ile384Ser) c.308T>G (p.Ile103Ser) n.590T>G c.1058T>G (p.Ile353Ser) c.1286T>G (p.Ile429Ser) c.1193T>G (p.Ile398Ser) | |
| X | g.19359632_19359651del | CA2697552884 | PDHA1 | c.1173_1192del (p.Lys392ArgfsTer?) c.*844_*863del (n.*844_*863del) c.1236_1255del (p.Lys413ArgfsTer?) c.1266_1285del (p.Lys423ArgfsTer?) n.947_966del c.*484_*503del (n.*484_*503del) c.*607_*626del (n.*607_*626del) c.1152_1171del (p.Lys385ArgfsTer?) c.309_328del (p.Lys104ArgfsTer?) n.591_610del c.1059_1078del (p.Lys354ArgfsTer?) c.1287_1306del (p.Lys430ArgfsTer?) c.1194_1213del (p.Lys399ArgfsTer?) | ClinVar |
| X | g.19359632C>A | CA515486485 | PDHA1 | c.1173C>A (p.Ile391=) c.*844C>A (n.*844C>A) c.1236C>A (p.Ile412=) c.1266C>A (p.Ile422=) n.947C>A c.*484C>A (n.*484C>A) c.*607C>A (n.*607C>A) c.1152C>A (p.Ile384=) c.309C>A (p.Ile103=) n.591C>A c.1059C>A (p.Ile353=) c.1287C>A (p.Ile429=) c.1194C>A (p.Ile398=) | |
| X | g.19359632C= | CA2418225615 | PDHA1 | c.1173C= (p.Ile391=) c.*844C= (n.*844C=) c.1236C= (p.Ile412=) c.1266C= (p.Ile422=) n.947C= c.*484C= (n.*484C=) c.*607C= (n.*607C=) c.1152C= (p.Ile384=) c.309C= (p.Ile103=) n.591C= c.1059C= (p.Ile353=) c.1287C= (p.Ile429=) c.1194C= (p.Ile398=) | |
| X | g.19359632C>G | CA10363221 | PDHA1 | c.1173C>G (p.Ile391Met) c.*844C>G (n.*844C>G) c.1236C>G (p.Ile412Met) c.1266C>G (p.Ile422Met) n.947C>G c.*484C>G (n.*484C>G) c.*607C>G (n.*607C>G) c.1152C>G (p.Ile384Met) c.309C>G (p.Ile103Met) n.591C>G c.1059C>G (p.Ile353Met) c.1287C>G (p.Ile429Met) c.1194C>G (p.Ile398Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |