Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19359624_19359639dupCA2695231678PDHA1c.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)
Xg.19359632_19359651delCA2697552884PDHA1c.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?)
Xg.19359637_19359642dupCA2695231680PDHA1c.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)
Xg.19359637_19359642delCA2695231681PDHA1c.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)
Xg.19359637_19359653dupCA873742943PDHA1c.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
Xg.19359642_19359654delCA2499226556PDHA1c.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
Xg.19359637_19359681dupCA2739268103PDHA1c.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)
Xg.19359638_19359640delinsTAACA2418225619PDHA1c.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=)
Xg.19359639_19359642dupCA319929PDHA1c.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
Xg.19359639A=CA2418225622PDHA1c.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=)
Xg.19359639A>CCA325044PDHA1c.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
Xg.19359639A>GCA412397373PDHA1c.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)
Xg.19359639A>TCA412397353PDHA1c.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)
Xg.19359639_19359640delCA121209PDHA1c.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
Xg.19359639_19359643delinsAAGTCCA2418225623PDHA1c.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=)
Xg.19359639_19359644dupCA2418225621PDHA1c.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)
dbSNP
Xg.19359640_19359658dupCA2693251342PDHA1c.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
Xg.19359640A>CCA412397407PDHA1c.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)
Xg.19359640A>GCA412397411PDHA1c.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)
Xg.19359640A>TCA412397416PDHA1c.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)
Xg.19359647_19359650delCA121203PDHA1c.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?)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359641G>ACA515486489PDHA1c.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=)
Xg.19359641G>CCA412397428PDHA1c.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)
Xg.19359641G>TCA412397433PDHA1c.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)
Xg.19359642T>ACA412397437PDHA1c.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)
Xg.19359642T>CCA412397439PDHA1c.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)
Xg.19359642T>GCA412397442PDHA1c.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)
Xg.19359643C>ACA412397449PDHA1c.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)
Xg.19359643C>GCA412397453PDHA1c.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)
Xg.19359643C>TCA412397457PDHA1c.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)
Xg.19359643_19359652delinsCAGTCAGTTACA2418225624PDHA1c.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=)
Xg.19359644A=CA2418225625PDHA1c.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=)
Xg.19359644A>CCA515486490PDHA1c.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
Xg.19359644A>GCA515486491PDHA1c.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=)
Xg.19359644A>TCA515486492PDHA1c.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=)
Xg.19359646_19359654delCA640857098PDHA1c.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
Xg.19359645G>ACA412397462PDHA1c.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)
Xg.19359645G>CCA10363222PDHA1c.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
Xg.19359645G=CA2418225626PDHA1c.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=)
Xg.19359645G>TCA412397468PDHA1c.1186G>T (p.Val396Phe)
c.*857G>T (n.*857G>T)
c.1249G>T (p.Val417Phe)
c.1279G>T (p.Val427Phe)
n.960G>T
c.*497G>T (n.*497G>T)
c.*620G>T (n.*620G>T)
c.1165G>T (p.Val389Phe)
c.322G>T (p.Val108Phe)
n.604G>T
c.1072G>T (p.Val358Phe)
c.1300G>T (p.Val434Phe)
c.1207G>T (p.Val403Phe)
Xg.19359645_19359647dupCA2579566473PDHA1c.1186_1188dup (p.Val396_Ser397insVal)
c.*857_*859dup (n.*857_*859dup)
c.1249_1251dup (p.Val417_Ser418insVal)
c.1279_1281dup (p.Val427_Ser428insVal)
n.960_962dup
c.*497_*499dup (n.*497_*499dup)
c.*620_*622dup (n.*620_*622dup)
c.1165_1167dup (p.Val389_Ser390insVal)
c.322_324dup (p.Val108_Ser109insVal)
n.604_606dup
c.1072_1074dup (p.Val358_Ser359insVal)
c.1300_1302dup (p.Val434_Ser435insVal)
c.1207_1209dup (p.Val403_Ser404insVal)
Xg.19359646T>ACA412397474PDHA1c.1187T>A (p.Val396Asp)
c.*858T>A (n.*858T>A)
c.1250T>A (p.Val417Asp)
c.1280T>A (p.Val427Asp)
n.961T>A
c.*498T>A (n.*498T>A)
c.*621T>A (n.*621T>A)
c.1166T>A (p.Val389Asp)
c.323T>A (p.Val108Asp)
n.605T>A
c.1073T>A (p.Val358Asp)
c.1301T>A (p.Val434Asp)
c.1208T>A (p.Val403Asp)
Xg.19359646T>CCA412397477PDHA1c.1187T>C (p.Val396Ala)
c.*858T>C (n.*858T>C)
c.1250T>C (p.Val417Ala)
c.1280T>C (p.Val427Ala)
n.961T>C
c.*498T>C (n.*498T>C)
c.*621T>C (n.*621T>C)
c.1166T>C (p.Val389Ala)
c.323T>C (p.Val108Ala)
n.605T>C
c.1073T>C (p.Val358Ala)
c.1301T>C (p.Val434Ala)
c.1208T>C (p.Val403Ala)
Xg.19359646T>GCA412397480PDHA1c.1187T>G (p.Val396Gly)
c.*858T>G (n.*858T>G)
c.1250T>G (p.Val417Gly)
c.1280T>G (p.Val427Gly)
n.961T>G
c.*498T>G (n.*498T>G)
c.*621T>G (n.*621T>G)
c.1166T>G (p.Val389Gly)
c.323T>G (p.Val108Gly)
n.605T>G
c.1073T>G (p.Val358Gly)
c.1301T>G (p.Val434Gly)
c.1208T>G (p.Val403Gly)
Xg.19359647C>ACA515486493PDHA1c.1188C>A (p.Val396=)
c.*859C>A (n.*859C>A)
c.1251C>A (p.Val417=)
c.1281C>A (p.Val427=)
n.962C>A
c.*499C>A (n.*499C>A)
c.*622C>A (n.*622C>A)
c.1167C>A (p.Val389=)
c.324C>A (p.Val108=)
n.606C>A
c.1074C>A (p.Val358=)
c.1302C>A (p.Val434=)
c.1209C>A (p.Val403=)
Xg.19359647C>GCA515486494PDHA1c.1188C>G (p.Val396=)
c.*859C>G (n.*859C>G)
c.1251C>G (p.Val417=)
c.1281C>G (p.Val427=)
n.962C>G
c.*499C>G (n.*499C>G)
c.*622C>G (n.*622C>G)
c.1167C>G (p.Val389=)
c.324C>G (p.Val108=)
n.606C>G
c.1074C>G (p.Val358=)
c.1302C>G (p.Val434=)
c.1209C>G (p.Val403=)
Xg.19359647C>TCA515486495PDHA1c.1188C>T (p.Val396=)
c.*859C>T (n.*859C>T)
c.1251C>T (p.Val417=)
c.1281C>T (p.Val427=)
n.962C>T
c.*499C>T (n.*499C>T)
c.*622C>T (n.*622C>T)
c.1167C>T (p.Val389=)
c.324C>T (p.Val108=)
n.606C>T
c.1074C>T (p.Val358=)
c.1302C>T (p.Val434=)
c.1209C>T (p.Val403=)
gnomAD v4
Xg.19359648A>CCA412397486PDHA1c.1189A>C (p.Ser397Arg)
c.*860A>C (n.*860A>C)
c.1252A>C (p.Ser418Arg)
c.1282A>C (p.Ser428Arg)
n.963A>C
c.*500A>C (n.*500A>C)
c.*623A>C (n.*623A>C)
c.1168A>C (p.Ser390Arg)
c.325A>C (p.Ser109Arg)
n.607A>C
c.1075A>C (p.Ser359Arg)
c.1303A>C (p.Ser435Arg)
c.1210A>C (p.Ser404Arg)
Xg.19359648A>GCA412397489PDHA1c.1189A>G (p.Ser397Gly)
c.*860A>G (n.*860A>G)
c.1252A>G (p.Ser418Gly)
c.1282A>G (p.Ser428Gly)
n.963A>G
c.*500A>G (n.*500A>G)
c.*623A>G (n.*623A>G)
c.1168A>G (p.Ser390Gly)
c.325A>G (p.Ser109Gly)
n.607A>G
c.1075A>G (p.Ser359Gly)
c.1303A>G (p.Ser435Gly)
c.1210A>G (p.Ser404Gly)
Xg.19359648A>TCA412397493PDHA1c.1189A>T (p.Ser397Cys)
c.*860A>T (n.*860A>T)
c.1252A>T (p.Ser418Cys)
c.1282A>T (p.Ser428Cys)
n.963A>T
c.*500A>T (n.*500A>T)
c.*623A>T (n.*623A>T)
c.1168A>T (p.Ser390Cys)
c.325A>T (p.Ser109Cys)
n.607A>T
c.1075A>T (p.Ser359Cys)
c.1303A>T (p.Ser435Cys)
c.1210A>T (p.Ser404Cys)

Number of alleles fetched