Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.19359637_19359642dup | CA2695231680 | PDHA1 | c.1178_1183dup (p.Lys394_Ser395insPheLys) c.*849_*854dup (n.*849_*854dup) c.1241_1246dup (p.Lys415_Ser416insPheLys) c.1271_1276dup (p.Lys425_Ser426insPheLys) n.952_957dup c.*489_*494dup (n.*489_*494dup) c.*612_*617dup (n.*612_*617dup) c.1157_1162dup (p.Lys387_Ser388insPheLys) c.314_319dup (p.Lys106_Ser107insPheLys) n.596_601dup c.1064_1069dup (p.Lys356_Ser357insPheLys) c.1292_1297dup (p.Lys432_Ser433insPheLys) c.1199_1204dup (p.Lys401_Ser402insPheLys) | |
X | g.19359637_19359642del | CA2695231681 | PDHA1 | c.1178_1183del (p.Phe393_Lys394del) c.*849_*854del (n.*849_*854del) c.1241_1246del (p.Phe414_Lys415del) c.1271_1276del (p.Phe424_Lys425del) n.952_957del c.*489_*494del (n.*489_*494del) c.*612_*617del (n.*612_*617del) c.1157_1162del (p.Phe386_Lys387del) c.314_319del (p.Phe105_Lys106del) n.596_601del c.1064_1069del (p.Phe355_Lys356del) c.1292_1297del (p.Phe431_Lys432del) c.1199_1204del (p.Phe400_Lys401del) | |
X | g.19359638dup | CA2695231683 | PDHA1 | c.1179dup (p.Lys394Ter) c.*850dup (n.*850dup) c.1242dup (p.Lys415Ter) c.1272dup (p.Lys425Ter) n.953dup c.*490dup (n.*490dup) c.*613dup (n.*613dup) c.1158dup (p.Lys387Ter) c.315dup (p.Lys106Ter) n.597dup c.1065dup (p.Lys356Ter) c.1293dup (p.Lys432Ter) c.1200dup (p.Lys401Ter) | |
X | g.19359637T>A | CA412397324 | PDHA1 | c.1178T>A (p.Phe393Tyr) c.*849T>A (n.*849T>A) c.1241T>A (p.Phe414Tyr) c.1271T>A (p.Phe424Tyr) n.952T>A c.*489T>A (n.*489T>A) c.*612T>A (n.*612T>A) c.1157T>A (p.Phe386Tyr) c.314T>A (p.Phe105Tyr) n.596T>A c.1064T>A (p.Phe355Tyr) c.1292T>A (p.Phe431Tyr) c.1199T>A (p.Phe400Tyr) | |
X | g.19359637T>C | CA412397327 | PDHA1 | c.1178T>C (p.Phe393Ser) c.*849T>C (n.*849T>C) c.1241T>C (p.Phe414Ser) c.1271T>C (p.Phe424Ser) n.952T>C c.*489T>C (n.*489T>C) c.*612T>C (n.*612T>C) c.1157T>C (p.Phe386Ser) c.314T>C (p.Phe105Ser) n.596T>C c.1064T>C (p.Phe355Ser) c.1292T>C (p.Phe431Ser) c.1199T>C (p.Phe400Ser) | |
X | g.19359637T>G | CA412397331 | PDHA1 | c.1178T>G (p.Phe393Cys) c.*849T>G (n.*849T>G) c.1241T>G (p.Phe414Cys) c.1271T>G (p.Phe424Cys) n.952T>G c.*489T>G (n.*489T>G) c.*612T>G (n.*612T>G) c.1157T>G (p.Phe386Cys) c.314T>G (p.Phe105Cys) n.596T>G c.1064T>G (p.Phe355Cys) c.1292T>G (p.Phe431Cys) c.1199T>G (p.Phe400Cys) | |
X | g.19359637T= | CA2418225618 | PDHA1 | c.1178T= (p.Phe393=) c.*849T= (n.*849T=) c.1241T= (p.Phe414=) c.1271T= (p.Phe424=) n.952T= c.*489T= (n.*489T=) c.*612T= (n.*612T=) c.1157T= (p.Phe386=) c.314T= (p.Phe105=) n.596T= c.1064T= (p.Phe355=) c.1292T= (p.Phe431=) c.1199T= (p.Phe400=) | |
X | g.19359637_19359653dup | CA873742943 | PDHA1 | c.1178_1194dup (n.1178_1194dup) c.*849_*865dup (n.*849_*865dup) c.1241_1257dup (n.1241_1257dup) c.1271_1287dup (n.1271_1287dup) n.952_968dup c.*489_*505dup (n.*489_*505dup) c.*612_*628dup (n.*612_*628dup) c.1157_1173dup (n.1157_1173dup) c.314_330dup (n.314_330dup) n.596_612dup c.1064_1080dup (n.1064_1080dup) c.1292_1308dup (n.1292_1308dup) c.1199_1215dup (n.1199_1215dup) | dbSNP gnomAD v3 gnomAD v4 |
X | g.19359642_19359654del | CA2499226556 | PDHA1 | c.1183_*1del (n.[c.1183_*1del;Ser395GlyfsTer?]) c.*854_*866del (n.*854_*866del) c.1246_*1del (n.[c.1246_*1del;Ser416GlyfsTer?]) c.1276_*1del (n.[c.1276_*1del;Ser426GlyfsTer?]) n.957_969del c.*494_*506del (n.*494_*506del) c.*617_*629del (n.*617_*629del) c.1162_*1del (n.[c.1162_*1del;Ser388GlyfsTer?]) c.319_*1del (n.[c.319_*1del;Ser107GlyfsTer?]) n.601_613del c.1069_*1del (n.[c.1069_*1del;Ser357GlyfsTer?]) c.1297_*1del (n.[c.1297_*1del;Ser433GlyfsTer?]) c.1204_*1del (n.[c.1204_*1del;Ser402GlyfsTer?]) | ClinVar dbSNP |
X | g.19359637_19359681dup | CA2739268103 | PDHA1 | c.1178_*28dup (n.1178_*28dup) c.*849_*893dup (n.*849_*893dup) c.1241_*28dup (n.1241_*28dup) c.1271_*28dup (n.1271_*28dup) n.952_996dup c.*489_*533dup (n.*489_*533dup) c.*612_*656dup (n.*612_*656dup) c.1157_*28dup (n.1157_*28dup) c.314_*28dup (n.314_*28dup) n.596_640dup c.1064_*28dup (n.1064_*28dup) c.1292_*28dup (n.1292_*28dup) c.1199_*28dup (n.1199_*28dup) | ClinVar |
X | g.19359638T>A | CA412397339 | PDHA1 | c.1179T>A (p.Phe393Leu) c.*850T>A (n.*850T>A) c.1242T>A (p.Phe414Leu) c.1272T>A (p.Phe424Leu) n.953T>A c.*490T>A (n.*490T>A) c.*613T>A (n.*613T>A) c.1158T>A (p.Phe386Leu) c.315T>A (p.Phe105Leu) n.597T>A c.1065T>A (p.Phe355Leu) c.1293T>A (p.Phe431Leu) c.1200T>A (p.Phe400Leu) | |
X | g.19359638T>C | CA515486488 | PDHA1 | c.1179T>C (p.Phe393=) c.*850T>C (n.*850T>C) c.1242T>C (p.Phe414=) c.1272T>C (p.Phe424=) n.953T>C c.*490T>C (n.*490T>C) c.*613T>C (n.*613T>C) c.1158T>C (p.Phe386=) c.315T>C (p.Phe105=) n.597T>C c.1065T>C (p.Phe355=) c.1293T>C (p.Phe431=) c.1200T>C (p.Phe400=) | |
X | g.19359638T>G | CA412397342 | PDHA1 | c.1179T>G (p.Phe393Leu) c.*850T>G (n.*850T>G) c.1242T>G (p.Phe414Leu) c.1272T>G (p.Phe424Leu) n.953T>G c.*490T>G (n.*490T>G) c.*613T>G (n.*613T>G) c.1158T>G (p.Phe386Leu) c.315T>G (p.Phe105Leu) n.597T>G c.1065T>G (p.Phe355Leu) c.1293T>G (p.Phe431Leu) c.1200T>G (p.Phe400Leu) | |
X | g.19359638T= | CA2418225620 | PDHA1 | c.1179T= (p.Phe393=) c.*850T= (n.*850T=) c.1242T= (p.Phe414=) c.1272T= (p.Phe424=) n.953T= c.*490T= (n.*490T=) c.*613T= (n.*613T=) c.1158T= (p.Phe386=) c.315T= (p.Phe105=) n.597T= c.1065T= (p.Phe355=) c.1293T= (p.Phe431=) c.1200T= (p.Phe400=) | |
X | g.19359638_19359640delinsTAA | CA2418225619 | PDHA1 | c.1179_1181delinsTAA (p.Phe393=) c.*850_*852delinsTAA (n.*850_*852delinsTAA) c.1242_1244delinsTAA (p.Phe414=) c.1272_1274delinsTAA (p.Phe424=) n.953_955delinsTAA c.*490_*492delinsTAA (n.*490_*492delinsTAA) c.*613_*615delinsTAA (n.*613_*615delinsTAA) c.1158_1160delinsTAA (p.Phe386=) c.315_317delinsTAA (p.Phe105=) n.597_599delinsTAA c.1065_1067delinsTAA (p.Phe355=) c.1293_1295delinsTAA (p.Phe431=) c.1200_1202delinsTAA (p.Phe400=) | |
X | g.19359639_19359642dup | CA319929 | PDHA1 | c.1180_1183dup (p.Ser395Ter) c.*851_*854dup (n.*851_*854dup) c.1243_1246dup (p.Ser416Ter) c.1273_1276dup (p.Ser426Ter) n.954_957dup c.*491_*494dup (n.*491_*494dup) c.*614_*617dup (n.*614_*617dup) c.1159_1162dup (p.Ser388Ter) c.316_319dup (p.Ser107Ter) n.598_601dup c.1066_1069dup (p.Ser357Ter) c.1294_1297dup (p.Ser433Ter) c.1201_1204dup (p.Ser402Ter) | ClinVar dbSNP |
X | g.19359638_19359639insCAGTGGATCAAGTTTA | CA2580100442 | PDHA1 | c.1179_1180insCAGTGGATCAAGTTTA (p.Lys394GlnfsTer?) c.*850_*851insCAGTGGATCAAGTTTA (n.*850_*851insCAGTGGATCAAGTTTA) c.1242_1243insCAGTGGATCAAGTTTA (p.Lys415GlnfsTer?) c.1272_1273insCAGTGGATCAAGTTTA (p.Lys425GlnfsTer?) n.953_954insCAGTGGATCAAGTTTA c.*490_*491insCAGTGGATCAAGTTTA (n.*490_*491insCAGTGGATCAAGTTTA) c.*613_*614insCAGTGGATCAAGTTTA (n.*613_*614insCAGTGGATCAAGTTTA) c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387GlnfsTer?) c.315_316insCAGTGGATCAAGTTTA (p.Lys106GlnfsTer?) n.597_598insCAGTGGATCAAGTTTA c.1065_1066insCAGTGGATCAAGTTTA (p.Lys356GlnfsTer?) c.1293_1294insCAGTGGATCAAGTTTA (p.Lys432GlnfsTer?) c.1200_1201insCAGTGGATCAAGTTTA (p.Lys401GlnfsTer?) | ClinVar |
X | g.19359639A= | CA2418225622 | PDHA1 | c.1180A= (p.Lys394=) c.*851A= (n.*851A=) c.1243A= (p.Lys415=) c.1273A= (p.Lys425=) n.954A= c.*491A= (n.*491A=) c.*614A= (n.*614A=) c.1159A= (p.Lys387=) c.316A= (p.Lys106=) n.598A= c.1066A= (p.Lys356=) c.1294A= (p.Lys432=) c.1201A= (p.Lys401=) | |
X | g.19359639A>C | CA325044 | PDHA1 | c.1180A>C (p.Lys394Gln) c.*851A>C (n.*851A>C) c.1243A>C (p.Lys415Gln) c.1273A>C (p.Lys425Gln) n.954A>C c.*491A>C (n.*491A>C) c.*614A>C (n.*614A>C) c.1159A>C (p.Lys387Gln) c.316A>C (p.Lys106Gln) n.598A>C c.1066A>C (p.Lys356Gln) c.1294A>C (p.Lys432Gln) c.1201A>C (p.Lys401Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19359639A>G | CA412397373 | PDHA1 | c.1180A>G (p.Lys394Glu) c.*851A>G (n.*851A>G) c.1243A>G (p.Lys415Glu) c.1273A>G (p.Lys425Glu) n.954A>G c.*491A>G (n.*491A>G) c.*614A>G (n.*614A>G) c.1159A>G (p.Lys387Glu) c.316A>G (p.Lys106Glu) n.598A>G c.1066A>G (p.Lys356Glu) c.1294A>G (p.Lys432Glu) c.1201A>G (p.Lys401Glu) | |
X | g.19359639A>T | CA412397353 | PDHA1 | c.1180A>T (p.Lys394Ter) c.*851A>T (n.*851A>T) c.1243A>T (p.Lys415Ter) c.1273A>T (p.Lys425Ter) n.954A>T c.*491A>T (n.*491A>T) c.*614A>T (n.*614A>T) c.1159A>T (p.Lys387Ter) c.316A>T (p.Lys106Ter) n.598A>T c.1066A>T (p.Lys356Ter) c.1294A>T (p.Lys432Ter) c.1201A>T (p.Lys401Ter) | |
X | g.19359639_19359640del | CA121209 | PDHA1 | c.1180_1181del (p.Lys394ValfsTer?) c.*851_*852del (n.*851_*852del) c.1243_1244del (p.Lys415ValfsTer?) c.1273_1274del (p.Lys425ValfsTer?) n.954_955del c.*491_*492del (n.*491_*492del) c.*614_*615del (n.*614_*615del) c.1159_1160del (p.Lys387ValfsTer?) c.316_317del (p.Lys106ValfsTer?) n.598_599del c.1066_1067del (p.Lys356ValfsTer?) c.1294_1295del (p.Lys432ValfsTer?) c.1201_1202del (p.Lys401ValfsTer?) | ClinVar dbSNP |
X | g.19359639_19359643delinsAAGTC | CA2418225623 | PDHA1 | c.1180_1184delinsAAGTC (p.Lys394=) c.*851_*855delinsAAGTC (n.*851_*855delinsAAGTC) c.1243_1247delinsAAGTC (p.Lys415=) c.1273_1277delinsAAGTC (p.Lys425=) n.954_958delinsAAGTC c.*491_*495delinsAAGTC (n.*491_*495delinsAAGTC) c.*614_*618delinsAAGTC (n.*614_*618delinsAAGTC) c.1159_1163delinsAAGTC (p.Lys387=) c.316_320delinsAAGTC (p.Lys106=) n.598_602delinsAAGTC c.1066_1070delinsAAGTC (p.Lys356=) c.1294_1298delinsAAGTC (p.Lys432=) c.1201_1205delinsAAGTC (p.Lys401=) | |
X | g.19359639_19359644dup | CA2418225621 | PDHA1 | c.1180_1185dup (p.Ser395_Val396insLysSer) c.*851_*856dup (n.*851_*856dup) c.1243_1248dup (p.Ser416_Val417insLysSer) c.1273_1278dup (p.Ser426_Val427insLysSer) n.954_959dup c.*491_*496dup (n.*491_*496dup) c.*614_*619dup (n.*614_*619dup) c.1159_1164dup (p.Ser388_Val389insLysSer) c.316_321dup (p.Ser107_Val108insLysSer) n.598_603dup c.1066_1071dup (p.Ser357_Val358insLysSer) c.1294_1299dup (p.Ser433_Val434insLysSer) c.1201_1206dup (p.Ser402_Val403insLysSer) | ClinVar dbSNP |
X | g.19359640_19359658dup | CA2693251342 | PDHA1 | c.1181_*5dup (n.1181_*5dup) c.*852_*870dup (n.*852_*870dup) c.1244_*5dup (n.1244_*5dup) c.1274_*5dup (n.1274_*5dup) n.955_973dup c.*492_*510dup (n.*492_*510dup) c.*615_*633dup (n.*615_*633dup) c.1160_*5dup (n.1160_*5dup) c.317_*5dup (n.317_*5dup) n.599_617dup c.1067_*5dup (n.1067_*5dup) c.1295_*5dup (n.1295_*5dup) c.1202_*5dup (n.1202_*5dup) | gnomAD v4 |
X | g.19359640A>C | CA412397407 | PDHA1 | c.1181A>C (p.Lys394Thr) c.*852A>C (n.*852A>C) c.1244A>C (p.Lys415Thr) c.1274A>C (p.Lys425Thr) n.955A>C c.*492A>C (n.*492A>C) c.*615A>C (n.*615A>C) c.1160A>C (p.Lys387Thr) c.317A>C (p.Lys106Thr) n.599A>C c.1067A>C (p.Lys356Thr) c.1295A>C (p.Lys432Thr) c.1202A>C (p.Lys401Thr) | |
X | g.19359640A>G | CA412397411 | PDHA1 | c.1181A>G (p.Lys394Arg) c.*852A>G (n.*852A>G) c.1244A>G (p.Lys415Arg) c.1274A>G (p.Lys425Arg) n.955A>G c.*492A>G (n.*492A>G) c.*615A>G (n.*615A>G) c.1160A>G (p.Lys387Arg) c.317A>G (p.Lys106Arg) n.599A>G c.1067A>G (p.Lys356Arg) c.1295A>G (p.Lys432Arg) c.1202A>G (p.Lys401Arg) | |
X | g.19359640A>T | CA412397416 | PDHA1 | c.1181A>T (p.Lys394Met) c.*852A>T (n.*852A>T) c.1244A>T (p.Lys415Met) c.1274A>T (p.Lys425Met) n.955A>T c.*492A>T (n.*492A>T) c.*615A>T (n.*615A>T) c.1160A>T (p.Lys387Met) c.317A>T (p.Lys106Met) n.599A>T c.1067A>T (p.Lys356Met) c.1295A>T (p.Lys432Met) c.1202A>T (p.Lys401Met) | |
X | g.19359647_19359650del | CA121203 | PDHA1 | c.1188_1191del (p.Ser397LysfsTer?) c.*859_*862del (n.*859_*862del) c.1251_1254del (p.Ser418LysfsTer?) c.1281_1284del (p.Ser428LysfsTer?) n.962_965del c.*499_*502del (n.*499_*502del) c.*622_*625del (n.*622_*625del) c.1167_1170del (p.Ser390LysfsTer?) c.324_327del (p.Ser109LysfsTer?) n.606_609del c.1074_1077del (p.Ser359LysfsTer?) c.1302_1305del (p.Ser435LysfsTer?) c.1209_1212del (p.Ser404LysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359641G>A | CA515486489 | PDHA1 | c.1182G>A (p.Lys394=) c.*853G>A (n.*853G>A) c.1245G>A (p.Lys415=) c.1275G>A (p.Lys425=) n.956G>A c.*493G>A (n.*493G>A) c.*616G>A (n.*616G>A) c.1161G>A (p.Lys387=) c.318G>A (p.Lys106=) n.600G>A c.1068G>A (p.Lys356=) c.1296G>A (p.Lys432=) c.1203G>A (p.Lys401=) | |
X | g.19359641G>C | CA412397428 | PDHA1 | c.1182G>C (p.Lys394Asn) c.*853G>C (n.*853G>C) c.1245G>C (p.Lys415Asn) c.1275G>C (p.Lys425Asn) n.956G>C c.*493G>C (n.*493G>C) c.*616G>C (n.*616G>C) c.1161G>C (p.Lys387Asn) c.318G>C (p.Lys106Asn) n.600G>C c.1068G>C (p.Lys356Asn) c.1296G>C (p.Lys432Asn) c.1203G>C (p.Lys401Asn) | |
X | g.19359641G>T | CA412397433 | PDHA1 | c.1182G>T (p.Lys394Asn) c.*853G>T (n.*853G>T) c.1245G>T (p.Lys415Asn) c.1275G>T (p.Lys425Asn) n.956G>T c.*493G>T (n.*493G>T) c.*616G>T (n.*616G>T) c.1161G>T (p.Lys387Asn) c.318G>T (p.Lys106Asn) n.600G>T c.1068G>T (p.Lys356Asn) c.1296G>T (p.Lys432Asn) c.1203G>T (p.Lys401Asn) | |
X | g.19359642T>A | CA412397437 | PDHA1 | c.1183T>A (p.Ser395Thr) c.*854T>A (n.*854T>A) c.1246T>A (p.Ser416Thr) c.1276T>A (p.Ser426Thr) n.957T>A c.*494T>A (n.*494T>A) c.*617T>A (n.*617T>A) c.1162T>A (p.Ser388Thr) c.319T>A (p.Ser107Thr) n.601T>A c.1069T>A (p.Ser357Thr) c.1297T>A (p.Ser433Thr) c.1204T>A (p.Ser402Thr) | |
X | g.19359642T>C | CA412397439 | PDHA1 | c.1183T>C (p.Ser395Pro) c.*854T>C (n.*854T>C) c.1246T>C (p.Ser416Pro) c.1276T>C (p.Ser426Pro) n.957T>C c.*494T>C (n.*494T>C) c.*617T>C (n.*617T>C) c.1162T>C (p.Ser388Pro) c.319T>C (p.Ser107Pro) n.601T>C c.1069T>C (p.Ser357Pro) c.1297T>C (p.Ser433Pro) c.1204T>C (p.Ser402Pro) | |
X | g.19359642T>G | CA412397442 | PDHA1 | c.1183T>G (p.Ser395Ala) c.*854T>G (n.*854T>G) c.1246T>G (p.Ser416Ala) c.1276T>G (p.Ser426Ala) n.957T>G c.*494T>G (n.*494T>G) c.*617T>G (n.*617T>G) c.1162T>G (p.Ser388Ala) c.319T>G (p.Ser107Ala) n.601T>G c.1069T>G (p.Ser357Ala) c.1297T>G (p.Ser433Ala) c.1204T>G (p.Ser402Ala) | |
X | g.19359643C>A | CA412397449 | PDHA1 | c.1184C>A (p.Ser395Ter) c.*855C>A (n.*855C>A) c.1247C>A (p.Ser416Ter) c.1277C>A (p.Ser426Ter) n.958C>A c.*495C>A (n.*495C>A) c.*618C>A (n.*618C>A) c.1163C>A (p.Ser388Ter) c.320C>A (p.Ser107Ter) n.602C>A c.1070C>A (p.Ser357Ter) c.1298C>A (p.Ser433Ter) c.1205C>A (p.Ser402Ter) | |
X | g.19359643C>G | CA412397453 | PDHA1 | c.1184C>G (p.Ser395Ter) c.*855C>G (n.*855C>G) c.1247C>G (p.Ser416Ter) c.1277C>G (p.Ser426Ter) n.958C>G c.*495C>G (n.*495C>G) c.*618C>G (n.*618C>G) c.1163C>G (p.Ser388Ter) c.320C>G (p.Ser107Ter) n.602C>G c.1070C>G (p.Ser357Ter) c.1298C>G (p.Ser433Ter) c.1205C>G (p.Ser402Ter) | |
X | g.19359643C>T | CA412397457 | PDHA1 | c.1184C>T (p.Ser395Leu) c.*855C>T (n.*855C>T) c.1247C>T (p.Ser416Leu) c.1277C>T (p.Ser426Leu) n.958C>T c.*495C>T (n.*495C>T) c.*618C>T (n.*618C>T) c.1163C>T (p.Ser388Leu) c.320C>T (p.Ser107Leu) n.602C>T c.1070C>T (p.Ser357Leu) c.1298C>T (p.Ser433Leu) c.1205C>T (p.Ser402Leu) | |
X | g.19359643_19359652delinsCAGTCAGTTA | CA2418225624 | PDHA1 | c.1184_1193delinsCAGTCAGTTA (p.Ser395=) c.*855_*864delinsCAGTCAGTTA (n.*855_*864delinsCAGTCAGTTA) c.1247_1256delinsCAGTCAGTTA (p.Ser416=) c.1277_1286delinsCAGTCAGTTA (p.Ser426=) n.958_967delinsCAGTCAGTTA c.*495_*504delinsCAGTCAGTTA (n.*495_*504delinsCAGTCAGTTA) c.*618_*627delinsCAGTCAGTTA (n.*618_*627delinsCAGTCAGTTA) c.1163_1172delinsCAGTCAGTTA (p.Ser388=) c.320_329delinsCAGTCAGTTA (p.Ser107=) n.602_611delinsCAGTCAGTTA c.1070_1079delinsCAGTCAGTTA (p.Ser357=) c.1298_1307delinsCAGTCAGTTA (p.Ser433=) c.1205_1214delinsCAGTCAGTTA (p.Ser402=) | |
X | g.19359644A= | CA2418225625 | PDHA1 | c.1185A= (p.Ser395=) c.*856A= (n.*856A=) c.1248A= (p.Ser416=) c.1278A= (p.Ser426=) n.959A= c.*496A= (n.*496A=) c.*619A= (n.*619A=) c.1164A= (p.Ser388=) c.321A= (p.Ser107=) n.603A= c.1071A= (p.Ser357=) c.1299A= (p.Ser433=) c.1206A= (p.Ser402=) | |
X | g.19359644A>C | CA515486490 | PDHA1 | c.1185A>C (p.Ser395=) c.*856A>C (n.*856A>C) c.1248A>C (p.Ser416=) c.1278A>C (p.Ser426=) n.959A>C c.*496A>C (n.*496A>C) c.*619A>C (n.*619A>C) c.1164A>C (p.Ser388=) c.321A>C (p.Ser107=) n.603A>C c.1071A>C (p.Ser357=) c.1299A>C (p.Ser433=) c.1206A>C (p.Ser402=) | dbSNP |
X | g.19359644A>G | CA515486491 | PDHA1 | c.1185A>G (p.Ser395=) c.*856A>G (n.*856A>G) c.1248A>G (p.Ser416=) c.1278A>G (p.Ser426=) n.959A>G c.*496A>G (n.*496A>G) c.*619A>G (n.*619A>G) c.1164A>G (p.Ser388=) c.321A>G (p.Ser107=) n.603A>G c.1071A>G (p.Ser357=) c.1299A>G (p.Ser433=) c.1206A>G (p.Ser402=) | |
X | g.19359644A>T | CA515486492 | PDHA1 | c.1185A>T (p.Ser395=) c.*856A>T (n.*856A>T) c.1248A>T (p.Ser416=) c.1278A>T (p.Ser426=) n.959A>T c.*496A>T (n.*496A>T) c.*619A>T (n.*619A>T) c.1164A>T (p.Ser388=) c.321A>T (p.Ser107=) n.603A>T c.1071A>T (p.Ser357=) c.1299A>T (p.Ser433=) c.1206A>T (p.Ser402=) | |
X | g.19359646_19359654del | CA640857098 | PDHA1 | c.1187_*1del (n.[c.1187_*1del;Val396GlyfsTer21]) c.*858_*866del (n.*858_*866del) c.1250_*1del (n.[c.1250_*1del;Val417GlyfsTer21]) c.1280_*1del (n.[c.1280_*1del;Val427GlyfsTer21]) n.961_969del c.*498_*506del (n.*498_*506del) c.*621_*629del (n.*621_*629del) c.1166_*1del (n.[c.1166_*1del;Val389GlyfsTer21]) c.323_*1del (n.[c.323_*1del;Val108GlyfsTer21]) n.605_613del c.1073_*1del (n.[c.1073_*1del;Val358GlyfsTer21]) c.1301_*1del (n.[c.1301_*1del;Val434GlyfsTer21]) c.1208_*1del (n.[c.1208_*1del;Val403GlyfsTer21]) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19359645G>A | CA412397462 | PDHA1 | c.1186G>A (p.Val396Ile) c.*857G>A (n.*857G>A) c.1249G>A (p.Val417Ile) c.1279G>A (p.Val427Ile) n.960G>A c.*497G>A (n.*497G>A) c.*620G>A (n.*620G>A) c.1165G>A (p.Val389Ile) c.322G>A (p.Val108Ile) n.604G>A c.1072G>A (p.Val358Ile) c.1300G>A (p.Val434Ile) c.1207G>A (p.Val403Ile) | |
X | g.19359645G>C | CA10363222 | PDHA1 | c.1186G>C (p.Val396Leu) c.*857G>C (n.*857G>C) c.1249G>C (p.Val417Leu) c.1279G>C (p.Val427Leu) n.960G>C c.*497G>C (n.*497G>C) c.*620G>C (n.*620G>C) c.1165G>C (p.Val389Leu) c.322G>C (p.Val108Leu) n.604G>C c.1072G>C (p.Val358Leu) c.1300G>C (p.Val434Leu) c.1207G>C (p.Val403Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19359645G= | CA2418225626 | PDHA1 | c.1186G= (p.Val396=) c.*857G= (n.*857G=) c.1249G= (p.Val417=) c.1279G= (p.Val427=) n.960G= c.*497G= (n.*497G=) c.*620G= (n.*620G=) c.1165G= (p.Val389=) c.322G= (p.Val108=) n.604G= c.1072G= (p.Val358=) c.1300G= (p.Val434=) c.1207G= (p.Val403=) |