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.19359467_19359537dup | CA913191132 | PDHA1 | c.1030-22_1078dup c.*701-22_*749dup c.1093-22_1141dup c.1123-22_1171dup n.804-22_852dup c.*341-22_*389dup c.*464-22_*512dup c.1009-22_1057dup c.166-22_214dup n.448-22_496dup c.916-22_964dup c.1144-22_1192dup c.1051-22_1099dup | ClinVar dbSNP |
| X | g.19359491_19359514del | CA2580100433 | PDHA1 | c.1032_1055del c.*703_*726del c.1095_1118del c.1125_1148del n.806_829del c.*343_*366del c.*466_*489del c.1011_1034del c.168_191del n.450_473del c.918_941del c.1146_1169del c.1053_1076del | ClinVar |
| X | g.19359494_19359514dup | CA1139667330 | PDHA1 | c.1035_1055dup (p.Lys351_Glu352insAspAspValGluValArgLys) c.*706_*726dup (n.*706_*726dup) c.1098_1118dup (p.Lys372_Glu373insAspAspValGluValArgLys) c.1128_1148dup (p.Lys382_Glu383insAspAspValGluValArgLys) n.809_829dup c.*346_*366dup (n.*346_*366dup) c.*469_*489dup (n.*469_*489dup) c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys) c.171_191dup (p.Lys63_Glu64insAspAspValGluValArgLys) n.453_473dup c.921_941dup (p.Lys313_Glu314insAspAspValGluValArgLys) c.1149_1169dup (p.Lys389_Glu390insAspAspValGluValArgLys) c.1056_1076dup (p.Lys358_Glu359insAspAspValGluValArgLys) | ClinVar dbSNP |
| X | g.19359505_19359519del | CA913184031 | PDHA1 | c.1046_1060del (p.Val349_Ile353del) c.*717_*731del (n.*717_*731del) c.1109_1123del (p.Val370_Ile374del) c.1139_1153del (p.Val380_Ile384del) n.820_834del c.*357_*371del (n.*357_*371del) c.*480_*494del (n.*480_*494del) c.1025_1039del (p.Val342_Ile346del) c.182_196del (p.Val61_Ile65del) n.464_478del c.932_946del (p.Val311_Ile315del) c.1160_1174del (p.Val387_Ile391del) c.1067_1081del (p.Val356_Ile360del) | |
| X | g.19359505_19359519delinsTGAGGAAGGAGATTG | CA2418225565 | PDHA1 | c.1046_1060delinsTGAGGAAGGAGATTG (p.Val349=) c.*717_*731delinsTGAGGAAGGAGATTG (n.*717_*731delinsTGAGGAAGGAGATTG) c.1109_1123delinsTGAGGAAGGAGATTG (p.Val370=) c.1139_1153delinsTGAGGAAGGAGATTG (p.Val380=) n.820_834delinsTGAGGAAGGAGATTG c.*357_*371delinsTGAGGAAGGAGATTG (n.*357_*371delinsTGAGGAAGGAGATTG) c.*480_*494delinsTGAGGAAGGAGATTG (n.*480_*494delinsTGAGGAAGGAGATTG) c.1025_1039delinsTGAGGAAGGAGATTG (p.Val342=) c.182_196delinsTGAGGAAGGAGATTG (p.Val61=) n.464_478delinsTGAGGAAGGAGATTG c.932_946delinsTGAGGAAGGAGATTG (p.Val311=) c.1160_1174delinsTGAGGAAGGAGATTG (p.Val387=) c.1067_1081delinsTGAGGAAGGAGATTG (p.Val356=) | |
| X | g.19359511_19359523del | CA2695195968 | PDHA1 | c.1052_1064del (p.Lys351MetfsTer?) c.*723_*735del (n.*723_*735del) c.1115_1127del (p.Lys372MetfsTer?) c.1145_1157del (p.Lys382MetfsTer?) n.826_838del c.*363_*375del (n.*363_*375del) c.*486_*498del (n.*486_*498del) c.1031_1043del (p.Lys344MetfsTer?) c.188_200del (p.Lys63MetfsTer?) n.470_482del c.938_950del (p.Lys313MetfsTer?) c.1166_1178del (p.Lys389MetfsTer?) c.1073_1085del (p.Lys358MetfsTer?) | |
| X | g.19359506_19359519del | CA658823892 | PDHA1 | c.1047_1060del (p.Arg350GlyfsTer11) c.*718_*731del (n.*718_*731del) c.1110_1123del (p.Arg371GlyfsTer11) c.1140_1153del (p.Arg381GlyfsTer11) n.821_834del c.*358_*371del (n.*358_*371del) c.*481_*494del (n.*481_*494del) c.1026_1039del (p.Arg343GlyfsTer11) c.183_196del (p.Arg62GlyfsTer11) n.465_478del c.933_946del (p.Arg312GlyfsTer11) c.1161_1174del (p.Arg388GlyfsTer11) c.1068_1081del (p.Arg357GlyfsTer11) | ClinVar dbSNP |
| X | g.19359513_19359515dup | CA2580100435 | PDHA1 | c.1054_1056dup (p.Glu352_Ile353insGlu) c.*725_*727dup (n.*725_*727dup) c.1117_1119dup (p.Glu373_Ile374insGlu) c.1147_1149dup (p.Glu383_Ile384insGlu) n.828_830dup c.*365_*367dup (n.*365_*367dup) c.*488_*490dup (n.*488_*490dup) c.1033_1035dup (p.Glu345_Ile346insGlu) c.190_192dup (p.Glu64_Ile65insGlu) n.472_474dup c.940_942dup (p.Glu314_Ile315insGlu) c.1168_1170dup (p.Glu390_Ile391insGlu) c.1075_1077dup (p.Glu359_Ile360insGlu) | ClinVar |
| X | g.19359515_19359516dup | CA2418225569 | PDHA1 | c.1056_1057dup (p.Ile353ArgfsTer?) c.*727_*728dup (n.*727_*728dup) c.1119_1120dup (p.Ile374ArgfsTer?) c.1149_1150dup (p.Ile384ArgfsTer?) n.830_831dup c.*367_*368dup (n.*367_*368dup) c.*490_*491dup (n.*490_*491dup) c.1035_1036dup (p.Ile346ArgfsTer?) c.192_193dup (p.Ile65ArgfsTer?) n.474_475dup c.942_943dup (p.Ile315ArgfsTer?) c.1170_1171dup (p.Ile391ArgfsTer?) c.1077_1078dup (p.Ile360ArgfsTer?) | ClinVar dbSNP |
| X | g.19359514A>C | CA412396463 | PDHA1 | c.1055A>C (p.Glu352Ala) c.*726A>C (n.*726A>C) c.1118A>C (p.Glu373Ala) c.1148A>C (p.Glu383Ala) n.829A>C c.*366A>C (n.*366A>C) c.*489A>C (n.*489A>C) c.1034A>C (p.Glu345Ala) c.191A>C (p.Glu64Ala) n.473A>C c.941A>C (p.Glu314Ala) c.1169A>C (p.Glu390Ala) c.1076A>C (p.Glu359Ala) | |
| X | g.19359514A>G | CA412396465 | PDHA1 | c.1055A>G (p.Glu352Gly) c.*726A>G (n.*726A>G) c.1118A>G (p.Glu373Gly) c.1148A>G (p.Glu383Gly) n.829A>G c.*366A>G (n.*366A>G) c.*489A>G (n.*489A>G) c.1034A>G (p.Glu345Gly) c.191A>G (p.Glu64Gly) n.473A>G c.941A>G (p.Glu314Gly) c.1169A>G (p.Glu390Gly) c.1076A>G (p.Glu359Gly) | |
| X | g.19359514A>T | CA412396466 | PDHA1 | c.1055A>T (p.Glu352Val) c.*726A>T (n.*726A>T) c.1118A>T (p.Glu373Val) c.1148A>T (p.Glu383Val) n.829A>T c.*366A>T (n.*366A>T) c.*489A>T (n.*489A>T) c.1034A>T (p.Glu345Val) c.191A>T (p.Glu64Val) n.473A>T c.941A>T (p.Glu314Val) c.1169A>T (p.Glu390Val) c.1076A>T (p.Glu359Val) | |
| X | g.19359514_19359517dup | CA658658932 | PDHA1 | c.1055_1058dup (p.Glu354AspfsTer2) c.*726_*729dup (n.*726_*729dup) c.1118_1121dup (p.Glu375AspfsTer2) c.1148_1151dup (p.Glu385AspfsTer2) n.829_832dup c.*366_*369dup (n.*366_*369dup) c.*489_*492dup (n.*489_*492dup) c.1034_1037dup (p.Glu347AspfsTer2) c.191_194dup (p.Glu66AspfsTer2) n.473_476dup c.941_944dup (p.Glu316AspfsTer2) c.1169_1172dup (p.Glu392AspfsTer2) c.1076_1079dup (p.Glu361AspfsTer2) | ClinVar dbSNP |
| X | g.19359515G>A | CA327031118 | PDHA1 | c.1056G>A (p.Glu352=) c.*727G>A (n.*727G>A) c.1119G>A (p.Glu373=) c.1149G>A (p.Glu383=) n.830G>A c.*367G>A (n.*367G>A) c.*490G>A (n.*490G>A) c.1035G>A (p.Glu345=) c.192G>A (p.Glu64=) n.474G>A c.942G>A (p.Glu314=) c.1170G>A (p.Glu390=) c.1077G>A (p.Glu359=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19359515G>C | CA412396469 | PDHA1 | c.1056G>C (p.Glu352Asp) c.*727G>C (n.*727G>C) c.1119G>C (p.Glu373Asp) c.1149G>C (p.Glu383Asp) n.830G>C c.*367G>C (n.*367G>C) c.*490G>C (n.*490G>C) c.1035G>C (p.Glu345Asp) c.192G>C (p.Glu64Asp) n.474G>C c.942G>C (p.Glu314Asp) c.1170G>C (p.Glu390Asp) c.1077G>C (p.Glu359Asp) | |
| X | g.19359515G= | CA2418225571 | PDHA1 | c.1056G= (p.Glu352=) c.*727G= (n.*727G=) c.1119G= (p.Glu373=) c.1149G= (p.Glu383=) n.830G= c.*367G= (n.*367G=) c.*490G= (n.*490G=) c.1035G= (p.Glu345=) c.192G= (p.Glu64=) n.474G= c.942G= (p.Glu314=) c.1170G= (p.Glu390=) c.1077G= (p.Glu359=) | |
| X | g.19359515G>T | CA412396470 | PDHA1 | c.1056G>T (p.Glu352Asp) c.*727G>T (n.*727G>T) c.1119G>T (p.Glu373Asp) c.1149G>T (p.Glu383Asp) n.830G>T c.*367G>T (n.*367G>T) c.*490G>T (n.*490G>T) c.1035G>T (p.Glu345Asp) c.192G>T (p.Glu64Asp) n.474G>T c.942G>T (p.Glu314Asp) c.1170G>T (p.Glu390Asp) c.1077G>T (p.Glu359Asp) | ClinVar |
| X | g.19359516A>C | CA412396473 | PDHA1 | c.1057A>C (p.Ile353Leu) c.*728A>C (n.*728A>C) c.1120A>C (p.Ile374Leu) c.1150A>C (p.Ile384Leu) n.831A>C c.*368A>C (n.*368A>C) c.*491A>C (n.*491A>C) c.1036A>C (p.Ile346Leu) c.193A>C (p.Ile65Leu) n.475A>C c.943A>C (p.Ile315Leu) c.1171A>C (p.Ile391Leu) c.1078A>C (p.Ile360Leu) | |
| X | g.19359516A>G | CA412396475 | PDHA1 | c.1057A>G (p.Ile353Val) c.*728A>G (n.*728A>G) c.1120A>G (p.Ile374Val) c.1150A>G (p.Ile384Val) n.831A>G c.*368A>G (n.*368A>G) c.*491A>G (n.*491A>G) c.1036A>G (p.Ile346Val) c.193A>G (p.Ile65Val) n.475A>G c.943A>G (p.Ile315Val) c.1171A>G (p.Ile391Val) c.1078A>G (p.Ile360Val) | |
| X | g.19359516A>T | CA412396476 | PDHA1 | c.1057A>T (p.Ile353Phe) c.*728A>T (n.*728A>T) c.1120A>T (p.Ile374Phe) c.1150A>T (p.Ile384Phe) n.831A>T c.*368A>T (n.*368A>T) c.*491A>T (n.*491A>T) c.1036A>T (p.Ile346Phe) c.193A>T (p.Ile65Phe) n.475A>T c.943A>T (p.Ile315Phe) c.1171A>T (p.Ile391Phe) c.1078A>T (p.Ile360Phe) | |
| X | g.19359517T>A | CA412396479 | PDHA1 | c.1058T>A (p.Ile353Asn) c.*729T>A (n.*729T>A) c.1121T>A (p.Ile374Asn) c.1151T>A (p.Ile384Asn) n.832T>A c.*369T>A (n.*369T>A) c.*492T>A (n.*492T>A) c.1037T>A (p.Ile346Asn) c.194T>A (p.Ile65Asn) n.476T>A c.944T>A (p.Ile315Asn) c.1172T>A (p.Ile391Asn) c.1079T>A (p.Ile360Asn) | |
| X | g.19359517T>C | CA412396481 | PDHA1 | c.1058T>C (p.Ile353Thr) c.*729T>C (n.*729T>C) c.1121T>C (p.Ile374Thr) c.1151T>C (p.Ile384Thr) n.832T>C c.*369T>C (n.*369T>C) c.*492T>C (n.*492T>C) c.1037T>C (p.Ile346Thr) c.194T>C (p.Ile65Thr) n.476T>C c.944T>C (p.Ile315Thr) c.1172T>C (p.Ile391Thr) c.1079T>C (p.Ile360Thr) | |
| X | g.19359517T>G | CA412396483 | PDHA1 | c.1058T>G (p.Ile353Ser) c.*729T>G (n.*729T>G) c.1121T>G (p.Ile374Ser) c.1151T>G (p.Ile384Ser) n.832T>G c.*369T>G (n.*369T>G) c.*492T>G (n.*492T>G) c.1037T>G (p.Ile346Ser) c.194T>G (p.Ile65Ser) n.476T>G c.944T>G (p.Ile315Ser) c.1172T>G (p.Ile391Ser) c.1079T>G (p.Ile360Ser) | |
| X | g.19359518T>A | CA515486417 | PDHA1 | c.1059T>A (p.Ile353=) c.*730T>A (n.*730T>A) c.1122T>A (p.Ile374=) c.1152T>A (p.Ile384=) n.833T>A c.*370T>A (n.*370T>A) c.*493T>A (n.*493T>A) c.1038T>A (p.Ile346=) c.195T>A (p.Ile65=) n.477T>A c.945T>A (p.Ile315=) c.1173T>A (p.Ile391=) c.1080T>A (p.Ile360=) | |
| X | g.19359518T>C | CA515486418 | PDHA1 | c.1059T>C (p.Ile353=) c.*730T>C (n.*730T>C) c.1122T>C (p.Ile374=) c.1152T>C (p.Ile384=) n.833T>C c.*370T>C (n.*370T>C) c.*493T>C (n.*493T>C) c.1038T>C (p.Ile346=) c.195T>C (p.Ile65=) n.477T>C c.945T>C (p.Ile315=) c.1173T>C (p.Ile391=) c.1080T>C (p.Ile360=) | ClinVar dbSNP |
| X | g.19359518T>G | CA412396485 | PDHA1 | c.1059T>G (p.Ile353Met) c.*730T>G (n.*730T>G) c.1122T>G (p.Ile374Met) c.1152T>G (p.Ile384Met) n.833T>G c.*370T>G (n.*370T>G) c.*493T>G (n.*493T>G) c.1038T>G (p.Ile346Met) c.195T>G (p.Ile65Met) n.477T>G c.945T>G (p.Ile315Met) c.1173T>G (p.Ile391Met) c.1080T>G (p.Ile360Met) | |
| X | g.19359520_19359528dup | CA2695231668 | PDHA1 | c.1061_1069dup (p.Ala356_Ala357insGluAspAla) c.*732_*740dup (n.*732_*740dup) c.1124_1132dup (p.Ala377_Ala378insGluAspAla) c.1154_1162dup (p.Ala387_Ala388insGluAspAla) n.835_843dup c.*372_*380dup (n.*372_*380dup) c.*495_*503dup (n.*495_*503dup) c.1040_1048dup (p.Ala349_Ala350insGluAspAla) c.197_205dup (p.Ala68_Ala69insGluAspAla) n.479_487dup c.947_955dup (p.Ala318_Ala319insGluAspAla) c.1175_1183dup (p.Ala394_Ala395insGluAspAla) c.1082_1090dup (p.Ala363_Ala364insGluAspAla) | |
| X | g.19359519G>A | CA412396491 | PDHA1 | c.1060G>A (p.Glu354Lys) c.*731G>A (n.*731G>A) c.1123G>A (p.Glu375Lys) c.1153G>A (p.Glu385Lys) n.834G>A c.*371G>A (n.*371G>A) c.*494G>A (n.*494G>A) c.1039G>A (p.Glu347Lys) c.196G>A (p.Glu66Lys) n.478G>A c.946G>A (p.Glu316Lys) c.1174G>A (p.Glu392Lys) c.1081G>A (p.Glu361Lys) | |
| X | g.19359519G>C | CA412396487 | PDHA1 | c.1060G>C (p.Glu354Gln) c.*731G>C (n.*731G>C) c.1123G>C (p.Glu375Gln) c.1153G>C (p.Glu385Gln) n.834G>C c.*371G>C (n.*371G>C) c.*494G>C (n.*494G>C) c.1039G>C (p.Glu347Gln) c.196G>C (p.Glu66Gln) n.478G>C c.946G>C (p.Glu316Gln) c.1174G>C (p.Glu392Gln) c.1081G>C (p.Glu361Gln) | |
| X | g.19359519G>T | CA412396489 | PDHA1 | c.1060G>T (p.Glu354Ter) c.*731G>T (n.*731G>T) c.1123G>T (p.Glu375Ter) c.1153G>T (p.Glu385Ter) n.834G>T c.*371G>T (n.*371G>T) c.*494G>T (n.*494G>T) c.1039G>T (p.Glu347Ter) c.196G>T (p.Glu66Ter) n.478G>T c.946G>T (p.Glu316Ter) c.1174G>T (p.Glu392Ter) c.1081G>T (p.Glu361Ter) | |
| X | g.19359520A>C | CA412396494 | PDHA1 | c.1061A>C (p.Glu354Ala) c.*732A>C (n.*732A>C) c.1124A>C (p.Glu375Ala) c.1154A>C (p.Glu385Ala) n.835A>C c.*372A>C (n.*372A>C) c.*495A>C (n.*495A>C) c.1040A>C (p.Glu347Ala) c.197A>C (p.Glu66Ala) n.479A>C c.947A>C (p.Glu316Ala) c.1175A>C (p.Glu392Ala) c.1082A>C (p.Glu361Ala) | |
| X | g.19359520A>G | CA412396496 | PDHA1 | c.1061A>G (p.Glu354Gly) c.*732A>G (n.*732A>G) c.1124A>G (p.Glu375Gly) c.1154A>G (p.Glu385Gly) n.835A>G c.*372A>G (n.*372A>G) c.*495A>G (n.*495A>G) c.1040A>G (p.Glu347Gly) c.197A>G (p.Glu66Gly) n.479A>G c.947A>G (p.Glu316Gly) c.1175A>G (p.Glu392Gly) c.1082A>G (p.Glu361Gly) | |
| X | g.19359520A>T | CA412396497 | PDHA1 | c.1061A>T (p.Glu354Val) c.*732A>T (n.*732A>T) c.1124A>T (p.Glu375Val) c.1154A>T (p.Glu385Val) n.835A>T c.*372A>T (n.*372A>T) c.*495A>T (n.*495A>T) c.1040A>T (p.Glu347Val) c.197A>T (p.Glu66Val) n.479A>T c.947A>T (p.Glu316Val) c.1175A>T (p.Glu392Val) c.1082A>T (p.Glu361Val) | |
| X | g.19359522_19359533del | CA2697552883 | PDHA1 | c.1063_1074del (p.Asp355_Gln358del) c.*734_*745del (n.*734_*745del) c.1126_1137del (p.Asp376_Gln379del) c.1156_1167del (p.Asp386_Gln389del) n.837_848del c.*374_*385del (n.*374_*385del) c.*497_*508del (n.*497_*508del) c.1042_1053del (p.Asp348_Gln351del) c.199_210del (p.Asp67_Gln70del) n.481_492del c.949_960del (p.Asp317_Gln320del) c.1177_1188del (p.Asp393_Gln396del) c.1084_1095del (p.Asp362_Gln365del) | ClinVar |
| X | g.19359521G>A | CA515486419 | PDHA1 | c.1062G>A (p.Glu354=) c.*733G>A (n.*733G>A) c.1125G>A (p.Glu375=) c.1155G>A (p.Glu385=) n.836G>A c.*373G>A (n.*373G>A) c.*496G>A (n.*496G>A) c.1041G>A (p.Glu347=) c.198G>A (p.Glu66=) n.480G>A c.948G>A (p.Glu316=) c.1176G>A (p.Glu392=) c.1083G>A (p.Glu361=) | |
| X | g.19359521G>C | CA412396498 | PDHA1 | c.1062G>C (p.Glu354Asp) c.*733G>C (n.*733G>C) c.1125G>C (p.Glu375Asp) c.1155G>C (p.Glu385Asp) n.836G>C c.*373G>C (n.*373G>C) c.*496G>C (n.*496G>C) c.1041G>C (p.Glu347Asp) c.198G>C (p.Glu66Asp) n.480G>C c.948G>C (p.Glu316Asp) c.1176G>C (p.Glu392Asp) c.1083G>C (p.Glu361Asp) | |
| X | g.19359521G= | CA2418225572 | PDHA1 | c.1062G= (p.Glu354=) c.*733G= (n.*733G=) c.1125G= (p.Glu375=) c.1155G= (p.Glu385=) n.836G= c.*373G= (n.*373G=) c.*496G= (n.*496G=) c.1041G= (p.Glu347=) c.198G= (p.Glu66=) n.480G= c.948G= (p.Glu316=) c.1176G= (p.Glu392=) c.1083G= (p.Glu361=) | |
| X | g.19359521G>T | CA412396500 | PDHA1 | c.1062G>T (p.Glu354Asp) c.*733G>T (n.*733G>T) c.1125G>T (p.Glu375Asp) c.1155G>T (p.Glu385Asp) n.836G>T c.*373G>T (n.*373G>T) c.*496G>T (n.*496G>T) c.1041G>T (p.Glu347Asp) c.198G>T (p.Glu66Asp) n.480G>T c.948G>T (p.Glu316Asp) c.1176G>T (p.Glu392Asp) c.1083G>T (p.Glu361Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359522G>A | CA412396502 | PDHA1 | c.1063G>A (p.Asp355Asn) c.*734G>A (n.*734G>A) c.1126G>A (p.Asp376Asn) c.1156G>A (p.Asp386Asn) n.837G>A c.*374G>A (n.*374G>A) c.*497G>A (n.*497G>A) c.1042G>A (p.Asp348Asn) c.199G>A (p.Asp67Asn) n.481G>A c.949G>A (p.Asp317Asn) c.1177G>A (p.Asp393Asn) c.1084G>A (p.Asp362Asn) | |
| X | g.19359522G>C | CA412396504 | PDHA1 | c.1063G>C (p.Asp355His) c.*734G>C (n.*734G>C) c.1126G>C (p.Asp376His) c.1156G>C (p.Asp386His) n.837G>C c.*374G>C (n.*374G>C) c.*497G>C (n.*497G>C) c.1042G>C (p.Asp348His) c.199G>C (p.Asp67His) n.481G>C c.949G>C (p.Asp317His) c.1177G>C (p.Asp393His) c.1084G>C (p.Asp362His) | |
| X | g.19359522G>T | CA412396506 | PDHA1 | c.1063G>T (p.Asp355Tyr) c.*734G>T (n.*734G>T) c.1126G>T (p.Asp376Tyr) c.1156G>T (p.Asp386Tyr) n.837G>T c.*374G>T (n.*374G>T) c.*497G>T (n.*497G>T) c.1042G>T (p.Asp348Tyr) c.199G>T (p.Asp67Tyr) n.481G>T c.949G>T (p.Asp317Tyr) c.1177G>T (p.Asp393Tyr) c.1084G>T (p.Asp362Tyr) | |
| X | g.19359523_19359533del | CA2580100436 | PDHA1 | c.1064_1074del (p.Asp355ValfsTer7) c.*735_*745del (n.*735_*745del) c.1127_1137del (p.Asp376ValfsTer7) c.1157_1167del (p.Asp386ValfsTer7) n.838_848del c.*375_*385del (n.*375_*385del) c.*498_*508del (n.*498_*508del) c.1043_1053del (p.Asp348ValfsTer7) c.200_210del (p.Asp67ValfsTer7) n.482_492del c.950_960del (p.Asp317ValfsTer7) c.1178_1188del (p.Asp393ValfsTer7) c.1085_1095del (p.Asp362ValfsTer7) | ClinVar |
| X | g.19359523A= | CA2418225573 | PDHA1 | c.1064A= (p.Asp355=) c.*735A= (n.*735A=) c.1127A= (p.Asp376=) c.1157A= (p.Asp386=) n.838A= c.*375A= (n.*375A=) c.*498A= (n.*498A=) c.1043A= (p.Asp348=) c.200A= (p.Asp67=) n.482A= c.950A= (p.Asp317=) c.1178A= (p.Asp393=) c.1085A= (p.Asp362=) | |
| X | g.19359523A>C | CA412396508 | PDHA1 | c.1064A>C (p.Asp355Ala) c.*735A>C (n.*735A>C) c.1127A>C (p.Asp376Ala) c.1157A>C (p.Asp386Ala) n.838A>C c.*375A>C (n.*375A>C) c.*498A>C (n.*498A>C) c.1043A>C (p.Asp348Ala) c.200A>C (p.Asp67Ala) n.482A>C c.950A>C (p.Asp317Ala) c.1178A>C (p.Asp393Ala) c.1085A>C (p.Asp362Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359523A>G | CA412396510 | PDHA1 | c.1064A>G (p.Asp355Gly) c.*735A>G (n.*735A>G) c.1127A>G (p.Asp376Gly) c.1157A>G (p.Asp386Gly) n.838A>G c.*375A>G (n.*375A>G) c.*498A>G (n.*498A>G) c.1043A>G (p.Asp348Gly) c.200A>G (p.Asp67Gly) n.482A>G c.950A>G (p.Asp317Gly) c.1178A>G (p.Asp393Gly) c.1085A>G (p.Asp362Gly) | |
| X | g.19359523A>T | CA412396512 | PDHA1 | c.1064A>T (p.Asp355Val) c.*735A>T (n.*735A>T) c.1127A>T (p.Asp376Val) c.1157A>T (p.Asp386Val) n.838A>T c.*375A>T (n.*375A>T) c.*498A>T (n.*498A>T) c.1043A>T (p.Asp348Val) c.200A>T (p.Asp67Val) n.482A>T c.950A>T (p.Asp317Val) c.1178A>T (p.Asp393Val) c.1085A>T (p.Asp362Val) | ClinVar gnomAD v4 |
| X | g.19359524T>A | CA412396515 | PDHA1 | c.1065T>A (p.Asp355Glu) c.*736T>A (n.*736T>A) c.1128T>A (p.Asp376Glu) c.1158T>A (p.Asp386Glu) n.839T>A c.*376T>A (n.*376T>A) c.*499T>A (n.*499T>A) c.1044T>A (p.Asp348Glu) c.201T>A (p.Asp67Glu) n.483T>A c.951T>A (p.Asp317Glu) c.1179T>A (p.Asp393Glu) c.1086T>A (p.Asp362Glu) | |
| X | g.19359524T>C | CA515486420 | PDHA1 | c.1065T>C (p.Asp355=) c.*736T>C (n.*736T>C) c.1128T>C (p.Asp376=) c.1158T>C (p.Asp386=) n.839T>C c.*376T>C (n.*376T>C) c.*499T>C (n.*499T>C) c.1044T>C (p.Asp348=) c.201T>C (p.Asp67=) n.483T>C c.951T>C (p.Asp317=) c.1179T>C (p.Asp393=) c.1086T>C (p.Asp362=) | |
| X | g.19359524T>G | CA412396516 | PDHA1 | c.1065T>G (p.Asp355Glu) c.*736T>G (n.*736T>G) c.1128T>G (p.Asp376Glu) c.1158T>G (p.Asp386Glu) n.839T>G c.*376T>G (n.*376T>G) c.*499T>G (n.*499T>G) c.1044T>G (p.Asp348Glu) c.201T>G (p.Asp67Glu) n.483T>G c.951T>G (p.Asp317Glu) c.1179T>G (p.Asp393Glu) c.1086T>G (p.Asp362Glu) | |
| X | g.19359525G>A | CA10607080 | PDHA1 | c.1066G>A (p.Ala356Thr) c.*737G>A (n.*737G>A) c.1129G>A (p.Ala377Thr) c.1159G>A (p.Ala387Thr) n.840G>A c.*377G>A (n.*377G>A) c.*500G>A (n.*500G>A) c.1045G>A (p.Ala349Thr) c.202G>A (p.Ala68Thr) n.484G>A c.952G>A (p.Ala318Thr) c.1180G>A (p.Ala394Thr) c.1087G>A (p.Ala363Thr) | ClinVar dbSNP |