Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19358904_19358952dupCA2739268099PDHA1c.921-12_957dup
c.*592-12_*628dup
c.984-12_1020dup
c.1014-12_1050dup
n.695-12_731dup
c.*232-12_*268dup
c.*355-12_*391dup
c.900-12_936dup
c.57-12_93dup
n.339-12_375dup
n.328-12_364dup
c.807-12_843dup
c.1035-12_1071dup
c.942-12_978dup
 ClinVar
Xg.19358913_19358933dupCA121211PDHA1c.921-3_938dup
c.*592-3_*609dup
c.984-3_1001dup
c.1014-3_1031dup
n.695-3_712dup
c.*232-3_*249dup
c.*355-3_*372dup
c.900-3_917dup
c.57-3_74dup
n.339-3_356dup
n.328-3_345dup
c.807-3_824dup
c.1035-3_1052dup
c.942-3_959dup
 ClinVar dbSNP
Xg.19358933A>CCA412396090PDHA1c.938A>C (p.Glu313Ala)
c.*609A>C (n.*609A>C)
c.1001A>C (p.Glu334Ala)
c.1031A>C (p.Glu344Ala)
n.712A>C
c.*249A>C (n.*249A>C)
c.*372A>C (n.*372A>C)
c.917A>C (p.Glu306Ala)
c.74A>C (p.Glu25Ala)
n.356A>C
n.345A>C
c.824A>C (p.Glu275Ala)
c.1052A>C (p.Glu351Ala)
c.959A>C (p.Glu320Ala)
Xg.19358933A>GCA412396091PDHA1c.938A>G (p.Glu313Gly)
c.*609A>G (n.*609A>G)
c.1001A>G (p.Glu334Gly)
c.1031A>G (p.Glu344Gly)
n.712A>G
c.*249A>G (n.*249A>G)
c.*372A>G (n.*372A>G)
c.917A>G (p.Glu306Gly)
c.74A>G (p.Glu25Gly)
n.356A>G
n.345A>G
c.824A>G (p.Glu275Gly)
c.1052A>G (p.Glu351Gly)
c.959A>G (p.Glu320Gly)
Xg.19358933A>TCA412396092PDHA1c.938A>T (p.Glu313Val)
c.*609A>T (n.*609A>T)
c.1001A>T (p.Glu334Val)
c.1031A>T (p.Glu344Val)
n.712A>T
c.*249A>T (n.*249A>T)
c.*372A>T (n.*372A>T)
c.917A>T (p.Glu306Val)
c.74A>T (p.Glu25Val)
n.356A>T
n.345A>T
c.824A>T (p.Glu275Val)
c.1052A>T (p.Glu351Val)
c.959A>T (p.Glu320Val)
Xg.19358934_19358943dupCA1139667326PDHA1c.939_948dup (p.Val317AsnfsTer7)
c.*610_*619dup (n.*610_*619dup)
c.1002_1011dup (p.Val338AsnfsTer7)
c.1032_1041dup (p.Val348AsnfsTer7)
n.713_722dup
c.*250_*259dup (n.*250_*259dup)
c.*373_*382dup (n.*373_*382dup)
c.918_927dup (p.Val310AsnfsTer7)
c.75_84dup (p.Val29AsnfsTer7)
n.357_366dup
n.346_355dup
c.825_834dup (p.Val279AsnfsTer7)
c.1053_1062dup (p.Val355AsnfsTer7)
c.960_969dup (p.Val324AsnfsTer7)
 ClinVar dbSNP
Xg.19358934A>CCA412396093PDHA1c.939A>C (p.Glu313Asp)
c.*610A>C (n.*610A>C)
c.1002A>C (p.Glu334Asp)
c.1032A>C (p.Glu344Asp)
n.713A>C
c.*250A>C (n.*250A>C)
c.*373A>C (n.*373A>C)
c.918A>C (p.Glu306Asp)
c.75A>C (p.Glu25Asp)
n.357A>C
n.346A>C
c.825A>C (p.Glu275Asp)
c.1053A>C (p.Glu351Asp)
c.960A>C (p.Glu320Asp)
Xg.19358934A>GCA515486292PDHA1c.939A>G (p.Glu313=)
c.*610A>G (n.*610A>G)
c.1002A>G (p.Glu334=)
c.1032A>G (p.Glu344=)
n.713A>G
c.*250A>G (n.*250A>G)
c.*373A>G (n.*373A>G)
c.918A>G (p.Glu306=)
c.75A>G (p.Glu25=)
n.357A>G
n.346A>G
c.825A>G (p.Glu275=)
c.1053A>G (p.Glu351=)
c.960A>G (p.Glu320=)
 gnomAD v4
Xg.19358934A>TCA412396094PDHA1c.939A>T (p.Glu313Asp)
c.*610A>T (n.*610A>T)
c.1002A>T (p.Glu334Asp)
c.1032A>T (p.Glu344Asp)
n.713A>T
c.*250A>T (n.*250A>T)
c.*373A>T (n.*373A>T)
c.918A>T (p.Glu306Asp)
c.75A>T (p.Glu25Asp)
n.357A>T
n.346A>T
c.825A>T (p.Glu275Asp)
c.1053A>T (p.Glu351Asp)
c.960A>T (p.Glu320Asp)
Xg.19358935A>CCA412396095PDHA1c.940A>C (p.Ile314Leu)
c.*611A>C (n.*611A>C)
c.1003A>C (p.Ile335Leu)
c.1033A>C (p.Ile345Leu)
n.714A>C
c.*251A>C (n.*251A>C)
c.*374A>C (n.*374A>C)
c.919A>C (p.Ile307Leu)
c.76A>C (p.Ile26Leu)
n.358A>C
n.347A>C
c.826A>C (p.Ile276Leu)
c.1054A>C (p.Ile352Leu)
c.961A>C (p.Ile321Leu)
Xg.19358935A>GCA412396096PDHA1c.940A>G (p.Ile314Val)
c.*611A>G (n.*611A>G)
c.1003A>G (p.Ile335Val)
c.1033A>G (p.Ile345Val)
n.714A>G
c.*251A>G (n.*251A>G)
c.*374A>G (n.*374A>G)
c.919A>G (p.Ile307Val)
c.76A>G (p.Ile26Val)
n.358A>G
n.347A>G
c.826A>G (p.Ile276Val)
c.1054A>G (p.Ile352Val)
c.961A>G (p.Ile321Val)
Xg.19358935A>TCA412396097PDHA1c.940A>T (p.Ile314Phe)
c.*611A>T (n.*611A>T)
c.1003A>T (p.Ile335Phe)
c.1033A>T (p.Ile345Phe)
n.714A>T
c.*251A>T (n.*251A>T)
c.*374A>T (n.*374A>T)
c.919A>T (p.Ile307Phe)
c.76A>T (p.Ile26Phe)
n.358A>T
n.347A>T
c.826A>T (p.Ile276Phe)
c.1054A>T (p.Ile352Phe)
c.961A>T (p.Ile321Phe)
Xg.19358936T>ACA412396099PDHA1c.941T>A (p.Ile314Asn)
c.*612T>A (n.*612T>A)
c.1004T>A (p.Ile335Asn)
c.1034T>A (p.Ile345Asn)
n.715T>A
c.*252T>A (n.*252T>A)
c.*375T>A (n.*375T>A)
c.920T>A (p.Ile307Asn)
c.77T>A (p.Ile26Asn)
n.359T>A
n.348T>A
c.827T>A (p.Ile276Asn)
c.1055T>A (p.Ile352Asn)
c.962T>A (p.Ile321Asn)
Xg.19358936T>CCA412396100PDHA1c.941T>C (p.Ile314Thr)
c.*612T>C (n.*612T>C)
c.1004T>C (p.Ile335Thr)
c.1034T>C (p.Ile345Thr)
n.715T>C
c.*252T>C (n.*252T>C)
c.*375T>C (n.*375T>C)
c.920T>C (p.Ile307Thr)
c.77T>C (p.Ile26Thr)
n.359T>C
n.348T>C
c.827T>C (p.Ile276Thr)
c.1055T>C (p.Ile352Thr)
c.962T>C (p.Ile321Thr)
 gnomAD v4
Xg.19358936T>GCA412396098PDHA1c.941T>G (p.Ile314Ser)
c.*612T>G (n.*612T>G)
c.1004T>G (p.Ile335Ser)
c.1034T>G (p.Ile345Ser)
n.715T>G
c.*252T>G (n.*252T>G)
c.*375T>G (n.*375T>G)
c.920T>G (p.Ile307Ser)
c.77T>G (p.Ile26Ser)
n.359T>G
n.348T>G
c.827T>G (p.Ile276Ser)
c.1055T>G (p.Ile352Ser)
c.962T>G (p.Ile321Ser)
Xg.19358936T=CA2418225225PDHA1c.941T= (p.Ile314=)
c.*612T= (n.*612T=)
c.1004T= (p.Ile335=)
c.1034T= (p.Ile345=)
n.715T=
c.*252T= (n.*252T=)
c.*375T= (n.*375T=)
c.920T= (p.Ile307=)
c.77T= (p.Ile26=)
n.359T=
n.348T=
c.827T= (p.Ile276=)
c.1055T= (p.Ile352=)
c.962T= (p.Ile321=)
Xg.19358937_19358952dupCA2695231652PDHA1c.942_957dup (p.Lys320SerfsTer6)
c.*613_*628dup (n.*613_*628dup)
c.1005_1020dup (p.Lys341SerfsTer6)
c.1035_1050dup (p.Lys351SerfsTer6)
n.716_731dup
c.*253_*268dup (n.*253_*268dup)
c.*376_*391dup (n.*376_*391dup)
c.921_936dup (p.Lys313SerfsTer6)
c.78_93dup (p.Lys32SerfsTer6)
n.360_375dup
n.349_364dup
c.828_843dup (p.Lys282SerfsTer6)
c.1056_1071dup (p.Lys358SerfsTer6)
c.963_978dup (p.Lys327SerfsTer6)
Xg.19358937T>ACA515486296PDHA1c.942T>A (p.Ile314=)
c.*613T>A (n.*613T>A)
c.1005T>A (p.Ile335=)
c.1035T>A (p.Ile345=)
n.716T>A
c.*253T>A (n.*253T>A)
c.*376T>A (n.*376T>A)
c.921T>A (p.Ile307=)
c.78T>A (p.Ile26=)
n.360T>A
n.349T>A
c.828T>A (p.Ile276=)
c.1056T>A (p.Ile352=)
c.963T>A (p.Ile321=)
Xg.19358937T>CCA515486297PDHA1c.942T>C (p.Ile314=)
c.*613T>C (n.*613T>C)
c.1005T>C (p.Ile335=)
c.1035T>C (p.Ile345=)
n.716T>C
c.*253T>C (n.*253T>C)
c.*376T>C (n.*376T>C)
c.921T>C (p.Ile307=)
c.78T>C (p.Ile26=)
n.360T>C
n.349T>C
c.828T>C (p.Ile276=)
c.1056T>C (p.Ile352=)
c.963T>C (p.Ile321=)
 gnomAD v4
Xg.19358937T>GCA412396101PDHA1c.942T>G (p.Ile314Met)
c.*613T>G (n.*613T>G)
c.1005T>G (p.Ile335Met)
c.1035T>G (p.Ile345Met)
n.716T>G
c.*253T>G (n.*253T>G)
c.*376T>G (n.*376T>G)
c.921T>G (p.Ile307Met)
c.78T>G (p.Ile26Met)
n.360T>G
n.349T>G
c.828T>G (p.Ile276Met)
c.1056T>G (p.Ile352Met)
c.963T>G (p.Ile321Met)
Xg.19358937_19358948dupCA16043300PDHA1c.942_953dup (p.Val317_Arg318insSerGlnGluVal)
c.*613_*624dup (n.*613_*624dup)
c.1005_1016dup (p.Val338_Arg339insSerGlnGluVal)
c.1035_1046dup (p.Val348_Arg349insSerGlnGluVal)
n.716_727dup
c.*253_*264dup (n.*253_*264dup)
c.*376_*387dup (n.*376_*387dup)
c.921_932dup (p.Val310_Arg311insSerGlnGluVal)
c.78_89dup (p.Val29_Arg30insSerGlnGluVal)
n.360_371dup
n.349_360dup
c.828_839dup (p.Val279_Arg280insSerGlnGluVal)
c.1056_1067dup (p.Val355_Arg356insSerGlnGluVal)
c.963_974dup (p.Val324_Arg325insSerGlnGluVal)
 ClinVar dbSNP
Xg.19358938C>ACA412396102PDHA1c.943C>A (p.Gln315Lys)
c.*614C>A (n.*614C>A)
c.1006C>A (p.Gln336Lys)
c.1036C>A (p.Gln346Lys)
n.717C>A
c.*254C>A (n.*254C>A)
c.*377C>A (n.*377C>A)
c.922C>A (p.Gln308Lys)
c.79C>A (p.Gln27Lys)
n.361C>A
n.350C>A
c.829C>A (p.Gln277Lys)
c.1057C>A (p.Gln353Lys)
c.964C>A (p.Gln322Lys)
 gnomAD v4
Xg.19358938C>GCA412396103PDHA1c.943C>G (p.Gln315Glu)
c.*614C>G (n.*614C>G)
c.1006C>G (p.Gln336Glu)
c.1036C>G (p.Gln346Glu)
n.717C>G
c.*254C>G (n.*254C>G)
c.*377C>G (n.*377C>G)
c.922C>G (p.Gln308Glu)
c.79C>G (p.Gln27Glu)
n.361C>G
n.350C>G
c.829C>G (p.Gln277Glu)
c.1057C>G (p.Gln353Glu)
c.964C>G (p.Gln322Glu)
Xg.19358938C>TCA412396104PDHA1c.943C>T (p.Gln315Ter)
c.*614C>T (n.*614C>T)
c.1006C>T (p.Gln336Ter)
c.1036C>T (p.Gln346Ter)
n.717C>T
c.*254C>T (n.*254C>T)
c.*377C>T (n.*377C>T)
c.922C>T (p.Gln308Ter)
c.79C>T (p.Gln27Ter)
n.361C>T
n.350C>T
c.829C>T (p.Gln277Ter)
c.1057C>T (p.Gln353Ter)
c.964C>T (p.Gln322Ter)
Xg.19358939A>CCA412396105PDHA1c.944A>C (p.Gln315Pro)
c.*615A>C (n.*615A>C)
c.1007A>C (p.Gln336Pro)
c.1037A>C (p.Gln346Pro)
n.718A>C
c.*255A>C (n.*255A>C)
c.*378A>C (n.*378A>C)
c.923A>C (p.Gln308Pro)
c.80A>C (p.Gln27Pro)
n.362A>C
n.351A>C
c.830A>C (p.Gln277Pro)
c.1058A>C (p.Gln353Pro)
c.965A>C (p.Gln322Pro)
Xg.19358939A>GCA412396106PDHA1c.944A>G (p.Gln315Arg)
c.*615A>G (n.*615A>G)
c.1007A>G (p.Gln336Arg)
c.1037A>G (p.Gln346Arg)
n.718A>G
c.*255A>G (n.*255A>G)
c.*378A>G (n.*378A>G)
c.923A>G (p.Gln308Arg)
c.80A>G (p.Gln27Arg)
n.362A>G
n.351A>G
c.830A>G (p.Gln277Arg)
c.1058A>G (p.Gln353Arg)
c.965A>G (p.Gln322Arg)
 gnomAD v4
Xg.19358939A>TCA412396107PDHA1c.944A>T (p.Gln315Leu)
c.*615A>T (n.*615A>T)
c.1007A>T (p.Gln336Leu)
c.1037A>T (p.Gln346Leu)
n.718A>T
c.*255A>T (n.*255A>T)
c.*378A>T (n.*378A>T)
c.923A>T (p.Gln308Leu)
c.80A>T (p.Gln27Leu)
n.362A>T
n.351A>T
c.830A>T (p.Gln277Leu)
c.1058A>T (p.Gln353Leu)
c.965A>T (p.Gln322Leu)
Xg.19358940_19358946delCA2695231653PDHA1c.945_951del (p.Ser319ValfsTer12)
c.*616_*622del (n.*616_*622del)
c.1008_1014del (p.Ser340ValfsTer12)
c.1038_1044del (p.Ser350ValfsTer12)
n.719_725del
c.*256_*262del (n.*256_*262del)
c.*379_*385del (n.*379_*385del)
c.924_930del (p.Ser312ValfsTer12)
c.81_87del (p.Ser31ValfsTer12)
n.363_369del
n.352_358del
c.831_837del (p.Ser281ValfsTer12)
c.1059_1065del (p.Ser357ValfsTer12)
c.966_972del (p.Ser326ValfsTer12)
 dbSNP
Xg.19358940G>ACA515486299PDHA1c.945G>A (p.Gln315=)
c.*616G>A (n.*616G>A)
c.1008G>A (p.Gln336=)
c.1038G>A (p.Gln346=)
n.719G>A
c.*256G>A (n.*256G>A)
c.*379G>A (n.*379G>A)
c.924G>A (p.Gln308=)
c.81G>A (p.Gln27=)
n.363G>A
n.352G>A
c.831G>A (p.Gln277=)
c.1059G>A (p.Gln353=)
c.966G>A (p.Gln322=)
Xg.19358940G>CCA412396108PDHA1c.945G>C (p.Gln315His)
c.*616G>C (n.*616G>C)
c.1008G>C (p.Gln336His)
c.1038G>C (p.Gln346His)
n.719G>C
c.*256G>C (n.*256G>C)
c.*379G>C (n.*379G>C)
c.924G>C (p.Gln308His)
c.81G>C (p.Gln27His)
n.363G>C
n.352G>C
c.831G>C (p.Gln277His)
c.1059G>C (p.Gln353His)
c.966G>C (p.Gln322His)
Xg.19358940G>TCA412396109PDHA1c.945G>T (p.Gln315His)
c.*616G>T (n.*616G>T)
c.1008G>T (p.Gln336His)
c.1038G>T (p.Gln346His)
n.719G>T
c.*256G>T (n.*256G>T)
c.*379G>T (n.*379G>T)
c.924G>T (p.Gln308His)
c.81G>T (p.Gln27His)
n.363G>T
n.352G>T
c.831G>T (p.Gln277His)
c.1059G>T (p.Gln353His)
c.966G>T (p.Gln322His)
 gnomAD v4
Xg.19358940_19358947delinsGGAAGTAACA2418225226PDHA1c.945_952delinsGGAAGTAA (p.Gln315=)
c.*616_*623delinsGGAAGTAA (n.*616_*623delinsGGAAGTAA)
c.1008_1015delinsGGAAGTAA (p.Gln336=)
c.1038_1045delinsGGAAGTAA (p.Gln346=)
n.719_726delinsGGAAGTAA
c.*256_*263delinsGGAAGTAA (n.*256_*263delinsGGAAGTAA)
c.*379_*386delinsGGAAGTAA (n.*379_*386delinsGGAAGTAA)
c.924_931delinsGGAAGTAA (p.Gln308=)
c.81_88delinsGGAAGTAA (p.Gln27=)
n.363_370delinsGGAAGTAA
n.352_359delinsGGAAGTAA
c.831_838delinsGGAAGTAA (p.Gln277=)
c.1059_1066delinsGGAAGTAA (p.Gln353=)
c.966_973delinsGGAAGTAA (p.Gln322=)
Xg.19358941G>ACA412396111PDHA1c.946G>A (p.Glu316Lys)
c.*617G>A (n.*617G>A)
c.1009G>A (p.Glu337Lys)
c.1039G>A (p.Glu347Lys)
n.720G>A
c.*257G>A (n.*257G>A)
c.*380G>A (n.*380G>A)
c.925G>A (p.Glu309Lys)
c.82G>A (p.Glu28Lys)
n.364G>A
n.353G>A
c.832G>A (p.Glu278Lys)
c.1060G>A (p.Glu354Lys)
c.967G>A (p.Glu323Lys)
 gnomAD v4
Xg.19358941G>CCA412396112PDHA1c.946G>C (p.Glu316Gln)
c.*617G>C (n.*617G>C)
c.1009G>C (p.Glu337Gln)
c.1039G>C (p.Glu347Gln)
n.720G>C
c.*257G>C (n.*257G>C)
c.*380G>C (n.*380G>C)
c.925G>C (p.Glu309Gln)
c.82G>C (p.Glu28Gln)
n.364G>C
n.353G>C
c.832G>C (p.Glu278Gln)
c.1060G>C (p.Glu354Gln)
c.967G>C (p.Glu323Gln)
 dbSNP gnomAD v3 gnomAD v4
Xg.19358941G=CA2418225228PDHA1c.946G= (p.Glu316=)
c.*617G= (n.*617G=)
c.1009G= (p.Glu337=)
c.1039G= (p.Glu347=)
n.720G=
c.*257G= (n.*257G=)
c.*380G= (n.*380G=)
c.925G= (p.Glu309=)
c.82G= (p.Glu28=)
n.364G=
n.353G=
c.832G= (p.Glu278=)
c.1060G= (p.Glu354=)
c.967G= (p.Glu323=)
Xg.19358941G>TCA412396110PDHA1c.946G>T (p.Glu316Ter)
c.*617G>T (n.*617G>T)
c.1009G>T (p.Glu337Ter)
c.1039G>T (p.Glu347Ter)
n.720G>T
c.*257G>T (n.*257G>T)
c.*380G>T (n.*380G>T)
c.925G>T (p.Glu309Ter)
c.82G>T (p.Glu28Ter)
n.364G>T
n.353G>T
c.832G>T (p.Glu278Ter)
c.1060G>T (p.Glu354Ter)
c.967G>T (p.Glu323Ter)
Xg.19358942_19358944dupCA2695231654PDHA1c.947_949dup (p.Glu316_Val317insGlu)
c.*618_*620dup (n.*618_*620dup)
c.1010_1012dup (p.Glu337_Val338insGlu)
c.1040_1042dup (p.Glu347_Val348insGlu)
n.721_723dup
c.*258_*260dup (n.*258_*260dup)
c.*381_*383dup (n.*381_*383dup)
c.926_928dup (p.Glu309_Val310insGlu)
c.83_85dup (p.Glu28_Val29insGlu)
n.365_367dup
n.354_356dup
c.833_835dup (p.Glu278_Val279insGlu)
c.1061_1063dup (p.Glu354_Val355insGlu)
c.968_970dup (p.Glu323_Val324insGlu)
Xg.19358941_19358945delinsGAAGTCA2418225227PDHA1c.946_950delinsGAAGT (p.Glu316=)
c.*617_*621delinsGAAGT (n.*617_*621delinsGAAGT)
c.1009_1013delinsGAAGT (p.Glu337=)
c.1039_1043delinsGAAGT (p.Glu347=)
n.720_724delinsGAAGT
c.*257_*261delinsGAAGT (n.*257_*261delinsGAAGT)
c.*380_*384delinsGAAGT (n.*380_*384delinsGAAGT)
c.925_929delinsGAAGT (p.Glu309=)
c.82_86delinsGAAGT (p.Glu28=)
n.364_368delinsGAAGT
n.353_357delinsGAAGT
c.832_836delinsGAAGT (p.Glu278=)
c.1060_1064delinsGAAGT (p.Glu354=)
c.967_971delinsGAAGT (p.Glu323=)
Xg.19358950_19358956dupCA2580615401PDHA1c.955_961dup (p.Ser321LysfsTer2)
c.*626_*632dup (n.*626_*632dup)
c.1018_1024dup (p.Ser342LysfsTer2)
c.1048_1054dup (p.Ser352LysfsTer2)
n.729_735dup
c.*266_*272dup (n.*266_*272dup)
c.*389_*395dup (n.*389_*395dup)
c.934_940dup (p.Ser314LysfsTer2)
c.91_97dup (p.Ser33LysfsTer2)
n.373_379dup
n.362_368dup
c.841_847dup (p.Ser283LysfsTer2)
c.1069_1075dup (p.Ser359LysfsTer2)
c.976_982dup (p.Ser328LysfsTer2)
 ClinVar dbSNP
Xg.19358950_19358956delCA121204PDHA1c.955_961del (p.Ser319ValfsTer12)
c.*626_*632del (n.*626_*632del)
c.1018_1024del (p.Ser340ValfsTer12)
c.1048_1054del (p.Ser350ValfsTer12)
n.729_735del
c.*266_*272del (n.*266_*272del)
c.*389_*395del (n.*389_*395del)
c.934_940del (p.Ser312ValfsTer12)
c.91_97del (p.Ser31ValfsTer12)
n.373_379del
n.362_368del
c.841_847del (p.Ser281ValfsTer12)
c.1069_1075del (p.Ser357ValfsTer12)
c.976_982del (p.Ser326ValfsTer12)
 ClinVar dbSNP gnomAD v4
Xg.19358942A>CCA412396113PDHA1c.947A>C (p.Glu316Ala)
c.*618A>C (n.*618A>C)
c.1010A>C (p.Glu337Ala)
c.1040A>C (p.Glu347Ala)
n.721A>C
c.*258A>C (n.*258A>C)
c.*381A>C (n.*381A>C)
c.926A>C (p.Glu309Ala)
c.83A>C (p.Glu28Ala)
n.365A>C
n.354A>C
c.833A>C (p.Glu278Ala)
c.1061A>C (p.Glu354Ala)
c.968A>C (p.Glu323Ala)
Xg.19358942A>GCA412396114PDHA1c.947A>G (p.Glu316Gly)
c.*618A>G (n.*618A>G)
c.1010A>G (p.Glu337Gly)
c.1040A>G (p.Glu347Gly)
n.721A>G
c.*258A>G (n.*258A>G)
c.*381A>G (n.*381A>G)
c.926A>G (p.Glu309Gly)
c.83A>G (p.Glu28Gly)
n.365A>G
n.354A>G
c.833A>G (p.Glu278Gly)
c.1061A>G (p.Glu354Gly)
c.968A>G (p.Glu323Gly)
 gnomAD v4
Xg.19358942A>TCA412396115PDHA1c.947A>T (p.Glu316Val)
c.*618A>T (n.*618A>T)
c.1010A>T (p.Glu337Val)
c.1040A>T (p.Glu347Val)
n.721A>T
c.*258A>T (n.*258A>T)
c.*381A>T (n.*381A>T)
c.926A>T (p.Glu309Val)
c.83A>T (p.Glu28Val)
n.365A>T
n.354A>T
c.833A>T (p.Glu278Val)
c.1061A>T (p.Glu354Val)
c.968A>T (p.Glu323Val)
Xg.19358945_19358948delCA658799595PDHA1c.950_953del (p.Val317GlufsTer15)
c.*621_*624del (n.*621_*624del)
c.1013_1016del (p.Val338GlufsTer15)
c.1043_1046del (p.Val348GlufsTer15)
n.724_727del
c.*261_*264del (n.*261_*264del)
c.*384_*387del (n.*384_*387del)
c.929_932del (p.Val310GlufsTer15)
c.86_89del (p.Val29GlufsTer15)
n.368_371del
n.357_360del
c.836_839del (p.Val279GlufsTer15)
c.1064_1067del (p.Val355GlufsTer15)
c.971_974del (p.Val324GlufsTer15)
 ClinVar dbSNP
Xg.19358943A=CA2418225229PDHA1c.948A= (p.Glu316=)
c.*619A= (n.*619A=)
c.1011A= (p.Glu337=)
c.1041A= (p.Glu347=)
n.722A=
c.*259A= (n.*259A=)
c.*382A= (n.*382A=)
c.927A= (p.Glu309=)
c.84A= (p.Glu28=)
n.366A=
n.355A=
c.834A= (p.Glu278=)
c.1062A= (p.Glu354=)
c.969A= (p.Glu323=)
Xg.19358943A>CCA327030540PDHA1c.948A>C (p.Glu316Asp)
c.*619A>C (n.*619A>C)
c.1011A>C (p.Glu337Asp)
c.1041A>C (p.Glu347Asp)
n.722A>C
c.*259A>C (n.*259A>C)
c.*382A>C (n.*382A>C)
c.927A>C (p.Glu309Asp)
c.84A>C (p.Glu28Asp)
n.366A>C
n.355A>C
c.834A>C (p.Glu278Asp)
c.1062A>C (p.Glu354Asp)
c.969A>C (p.Glu323Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.19358943A>GCA515486303PDHA1c.948A>G (p.Glu316=)
c.*619A>G (n.*619A>G)
c.1011A>G (p.Glu337=)
c.1041A>G (p.Glu347=)
n.722A>G
c.*259A>G (n.*259A>G)
c.*382A>G (n.*382A>G)
c.927A>G (p.Glu309=)
c.84A>G (p.Glu28=)
n.366A>G
n.355A>G
c.834A>G (p.Glu278=)
c.1062A>G (p.Glu354=)
c.969A>G (p.Glu323=)
 ClinVar gnomAD v4
Xg.19358943A>TCA412396116PDHA1c.948A>T (p.Glu316Asp)
c.*619A>T (n.*619A>T)
c.1011A>T (p.Glu337Asp)
c.1041A>T (p.Glu347Asp)
n.722A>T
c.*259A>T (n.*259A>T)
c.*382A>T (n.*382A>T)
c.927A>T (p.Glu309Asp)
c.84A>T (p.Glu28Asp)
n.366A>T
n.355A>T
c.834A>T (p.Glu278Asp)
c.1062A>T (p.Glu354Asp)
c.969A>T (p.Glu323Asp)
Xg.19358944G>ACA412396117PDHA1c.949G>A (p.Val317Ile)
c.*620G>A (n.*620G>A)
c.1012G>A (p.Val338Ile)
c.1042G>A (p.Val348Ile)
n.723G>A
c.*260G>A (n.*260G>A)
c.*383G>A (n.*383G>A)
c.928G>A (p.Val310Ile)
c.85G>A (p.Val29Ile)
n.367G>A
n.356G>A
c.835G>A (p.Val279Ile)
c.1063G>A (p.Val355Ile)
c.970G>A (p.Val324Ile)
Xg.19358944G>CCA412396118PDHA1c.949G>C (p.Val317Leu)
c.*620G>C (n.*620G>C)
c.1012G>C (p.Val338Leu)
c.1042G>C (p.Val348Leu)
n.723G>C
c.*260G>C (n.*260G>C)
c.*383G>C (n.*383G>C)
c.928G>C (p.Val310Leu)
c.85G>C (p.Val29Leu)
n.367G>C
n.356G>C
c.835G>C (p.Val279Leu)
c.1063G>C (p.Val355Leu)
c.970G>C (p.Val324Leu)
Xg.19358944G>TCA412396119PDHA1c.949G>T (p.Val317Leu)
c.*620G>T (n.*620G>T)
c.1012G>T (p.Val338Leu)
c.1042G>T (p.Val348Leu)
n.723G>T
c.*260G>T (n.*260G>T)
c.*383G>T (n.*383G>T)
c.928G>T (p.Val310Leu)
c.85G>T (p.Val29Leu)
n.367G>T
n.356G>T
c.835G>T (p.Val279Leu)
c.1063G>T (p.Val355Leu)
c.970G>T (p.Val324Leu)
Xg.19358945T>ACA412396122PDHA1c.950T>A (p.Val317Glu)
c.*621T>A (n.*621T>A)
c.1013T>A (p.Val338Glu)
c.1043T>A (p.Val348Glu)
n.724T>A
c.*261T>A (n.*261T>A)
c.*384T>A (n.*384T>A)
c.929T>A (p.Val310Glu)
c.86T>A (p.Val29Glu)
n.368T>A
n.357T>A
c.836T>A (p.Val279Glu)
c.1064T>A (p.Val355Glu)
c.971T>A (p.Val324Glu)
Xg.19358945T>CCA412396120PDHA1c.950T>C (p.Val317Ala)
c.*621T>C (n.*621T>C)
c.1013T>C (p.Val338Ala)
c.1043T>C (p.Val348Ala)
n.724T>C
c.*261T>C (n.*261T>C)
c.*384T>C (n.*384T>C)
c.929T>C (p.Val310Ala)
c.86T>C (p.Val29Ala)
n.368T>C
n.357T>C
c.836T>C (p.Val279Ala)
c.1064T>C (p.Val355Ala)
c.971T>C (p.Val324Ala)
Xg.19358945T>GCA412396121PDHA1c.950T>G (p.Val317Gly)
c.*621T>G (n.*621T>G)
c.1013T>G (p.Val338Gly)
c.1043T>G (p.Val348Gly)
n.724T>G
c.*261T>G (n.*261T>G)
c.*384T>G (n.*384T>G)
c.929T>G (p.Val310Gly)
c.86T>G (p.Val29Gly)
n.368T>G
n.357T>G
c.836T>G (p.Val279Gly)
c.1064T>G (p.Val355Gly)
c.971T>G (p.Val324Gly)
Xg.19358945_19358948delinsTAAGCA2418225230PDHA1c.950_953delinsTAAG (p.Val317=)
c.*621_*624delinsTAAG (n.*621_*624delinsTAAG)
c.1013_1016delinsTAAG (p.Val338=)
c.1043_1046delinsTAAG (p.Val348=)
n.724_727delinsTAAG
c.*261_*264delinsTAAG (n.*261_*264delinsTAAG)
c.*384_*387delinsTAAG (n.*384_*387delinsTAAG)
c.929_932delinsTAAG (p.Val310=)
c.86_89delinsTAAG (p.Val29=)
n.368_371delinsTAAG
n.357_360delinsTAAG
c.836_839delinsTAAG (p.Val279=)
c.1064_1067delinsTAAG (p.Val355=)
c.971_974delinsTAAG (p.Val324=)
Xg.19358946A>CCA515486307PDHA1c.951A>C (p.Val317=)
c.*622A>C (n.*622A>C)
c.1014A>C (p.Val338=)
c.1044A>C (p.Val348=)
n.725A>C
c.*262A>C (n.*262A>C)
c.*385A>C (n.*385A>C)
c.930A>C (p.Val310=)
c.87A>C (p.Val29=)
n.369A>C
n.358A>C
c.837A>C (p.Val279=)
c.1065A>C (p.Val355=)
c.972A>C (p.Val324=)
Xg.19358946A>GCA515486309PDHA1c.951A>G (p.Val317=)
c.*622A>G (n.*622A>G)
c.1014A>G (p.Val338=)
c.1044A>G (p.Val348=)
n.725A>G
c.*262A>G (n.*262A>G)
c.*385A>G (n.*385A>G)
c.930A>G (p.Val310=)
c.87A>G (p.Val29=)
n.369A>G
n.358A>G
c.837A>G (p.Val279=)
c.1065A>G (p.Val355=)
c.972A>G (p.Val324=)
Xg.19358946A>TCA515486311PDHA1c.951A>T (p.Val317=)
c.*622A>T (n.*622A>T)
c.1014A>T (p.Val338=)
c.1044A>T (p.Val348=)
n.725A>T
c.*262A>T (n.*262A>T)
c.*385A>T (n.*385A>T)
c.930A>T (p.Val310=)
c.87A>T (p.Val29=)
n.369A>T
n.358A>T
c.837A>T (p.Val279=)
c.1065A>T (p.Val355=)
c.972A>T (p.Val324=)
Xg.19358949_19358951dupCA2580615402PDHA1c.954_956dup (p.Arg318_Ser319insArg)
c.*625_*627dup (n.*625_*627dup)
c.1017_1019dup (p.Arg339_Ser340insArg)
c.1047_1049dup (p.Arg349_Ser350insArg)
n.728_730dup
c.*265_*267dup (n.*265_*267dup)
c.*388_*390dup (n.*388_*390dup)
c.933_935dup (p.Arg311_Ser312insArg)
c.90_92dup (p.Arg30_Ser31insArg)
n.372_374dup
n.361_363dup
c.840_842dup (p.Arg280_Ser281insArg)
c.1068_1070dup (p.Arg356_Ser357insArg)
c.975_977dup (p.Arg325_Ser326insArg)
 ClinVar
Xg.19358949_19358951delCA658684283PDHA1c.954_956del (p.Arg318del)
c.*625_*627del (n.*625_*627del)
c.1017_1019del (p.Arg339del)
c.1047_1049del (p.Arg349del)
n.728_730del
c.*265_*267del (n.*265_*267del)
c.*388_*390del (n.*388_*390del)
c.933_935del (p.Arg311del)
c.90_92del (p.Arg30del)
n.372_374del
n.361_363del
c.840_842del (p.Arg280del)
c.1068_1070del (p.Arg356del)
c.975_977del (p.Arg325del)
 ClinVar dbSNP
Xg.19358947A>CCA515486313PDHA1c.952A>C (p.Arg318=)
c.*623A>C (n.*623A>C)
c.1015A>C (p.Arg339=)
c.1045A>C (p.Arg349=)
n.726A>C
c.*263A>C (n.*263A>C)
c.*386A>C (n.*386A>C)
c.931A>C (p.Arg311=)
c.88A>C (p.Arg30=)
n.370A>C
n.359A>C
c.838A>C (p.Arg280=)
c.1066A>C (p.Arg356=)
c.973A>C (p.Arg325=)
Xg.19358947A>GCA412396123PDHA1c.952A>G (p.Arg318Gly)
c.*623A>G (n.*623A>G)
c.1015A>G (p.Arg339Gly)
c.1045A>G (p.Arg349Gly)
n.726A>G
c.*263A>G (n.*263A>G)
c.*386A>G (n.*386A>G)
c.931A>G (p.Arg311Gly)
c.88A>G (p.Arg30Gly)
n.370A>G
n.359A>G
c.838A>G (p.Arg280Gly)
c.1066A>G (p.Arg356Gly)
c.973A>G (p.Arg325Gly)
 gnomAD v4
Xg.19358947A>TCA412396124PDHA1c.952A>T (p.Arg318Ter)
c.*623A>T (n.*623A>T)
c.1015A>T (p.Arg339Ter)
c.1045A>T (p.Arg349Ter)
n.726A>T
c.*263A>T (n.*263A>T)
c.*386A>T (n.*386A>T)
c.931A>T (p.Arg311Ter)
c.88A>T (p.Arg30Ter)
n.370A>T
n.359A>T
c.838A>T (p.Arg280Ter)
c.1066A>T (p.Arg356Ter)
c.973A>T (p.Arg325Ter)
Xg.19358948G>ACA412396125PDHA1c.953G>A (p.Arg318Lys)
c.*624G>A (n.*624G>A)
c.1016G>A (p.Arg339Lys)
c.1046G>A (p.Arg349Lys)
n.727G>A
c.*264G>A (n.*264G>A)
c.*387G>A (n.*387G>A)
c.932G>A (p.Arg311Lys)
c.89G>A (p.Arg30Lys)
n.371G>A
n.360G>A
c.839G>A (p.Arg280Lys)
c.1067G>A (p.Arg356Lys)
c.974G>A (p.Arg325Lys)
Xg.19358948G>CCA412396126PDHA1c.953G>C (p.Arg318Thr)
c.*624G>C (n.*624G>C)
c.1016G>C (p.Arg339Thr)
c.1046G>C (p.Arg349Thr)
n.727G>C
c.*264G>C (n.*264G>C)
c.*387G>C (n.*387G>C)
c.932G>C (p.Arg311Thr)
c.89G>C (p.Arg30Thr)
n.371G>C
n.360G>C
c.839G>C (p.Arg280Thr)
c.1067G>C (p.Arg356Thr)
c.974G>C (p.Arg325Thr)
Xg.19358948G>TCA412396127PDHA1c.953G>T (p.Arg318Ile)
c.*624G>T (n.*624G>T)
c.1016G>T (p.Arg339Ile)
c.1046G>T (p.Arg349Ile)
n.727G>T
c.*264G>T (n.*264G>T)
c.*387G>T (n.*387G>T)
c.932G>T (p.Arg311Ile)
c.89G>T (p.Arg30Ile)
n.371G>T
n.360G>T
c.839G>T (p.Arg280Ile)
c.1067G>T (p.Arg356Ile)
c.974G>T (p.Arg325Ile)
Xg.19358948_19358952delinsGAAGTCA2418225231PDHA1c.953_957delinsGAAGT (p.Arg318=)
c.*624_*628delinsGAAGT (n.*624_*628delinsGAAGT)
c.1016_1020delinsGAAGT (p.Arg339=)
c.1046_1050delinsGAAGT (p.Arg349=)
n.727_731delinsGAAGT
c.*264_*268delinsGAAGT (n.*264_*268delinsGAAGT)
c.*387_*391delinsGAAGT (n.*387_*391delinsGAAGT)
c.932_936delinsGAAGT (p.Arg311=)
c.89_93delinsGAAGT (p.Arg30=)
n.371_375delinsGAAGT
n.360_364delinsGAAGT
c.839_843delinsGAAGT (p.Arg280=)
c.1067_1071delinsGAAGT (p.Arg356=)
c.974_978delinsGAAGT (p.Arg325=)
Xg.19358949A=CA2418225232PDHA1c.954A= (p.Arg318=)
c.*625A= (n.*625A=)
c.1017A= (p.Arg339=)
c.1047A= (p.Arg349=)
n.728A=
c.*265A= (n.*265A=)
c.*388A= (n.*388A=)
c.933A= (p.Arg311=)
c.90A= (p.Arg30=)
n.372A=
n.361A=
c.840A= (p.Arg280=)
c.1068A= (p.Arg356=)
c.975A= (p.Arg325=)
Xg.19358949A>CCA412396129PDHA1c.954A>C (p.Arg318Ser)
c.*625A>C (n.*625A>C)
c.1017A>C (p.Arg339Ser)
c.1047A>C (p.Arg349Ser)
n.728A>C
c.*265A>C (n.*265A>C)
c.*388A>C (n.*388A>C)
c.933A>C (p.Arg311Ser)
c.90A>C (p.Arg30Ser)
n.372A>C
n.361A>C
c.840A>C (p.Arg280Ser)
c.1068A>C (p.Arg356Ser)
c.975A>C (p.Arg325Ser)
Xg.19358949A>GCA515486317PDHA1c.954A>G (p.Arg318=)
c.*625A>G (n.*625A>G)
c.1017A>G (p.Arg339=)
c.1047A>G (p.Arg349=)
n.728A>G
c.*265A>G (n.*265A>G)
c.*388A>G (n.*388A>G)
c.933A>G (p.Arg311=)
c.90A>G (p.Arg30=)
n.372A>G
n.361A>G
c.840A>G (p.Arg280=)
c.1068A>G (p.Arg356=)
c.975A>G (p.Arg325=)
 gnomAD v4
Xg.19358949A>TCA412396128PDHA1c.954A>T (p.Arg318Ser)
c.*625A>T (n.*625A>T)
c.1017A>T (p.Arg339Ser)
c.1047A>T (p.Arg349Ser)
n.728A>T
c.*265A>T (n.*265A>T)
c.*388A>T (n.*388A>T)
c.933A>T (p.Arg311Ser)
c.90A>T (p.Arg30Ser)
n.372A>T
n.361A>T
c.840A>T (p.Arg280Ser)
c.1068A>T (p.Arg356Ser)
c.975A>T (p.Arg325Ser)
Xg.19358952_19358955delCA323384PDHA1c.957_960del (p.Ser319ArgfsTer13)
c.*628_*631del (n.*628_*631del)
c.1020_1023del (p.Ser340ArgfsTer13)
c.1050_1053del (p.Ser350ArgfsTer13)
n.731_734del
c.*268_*271del (n.*268_*271del)
c.*391_*394del (n.*391_*394del)
c.936_939del (p.Ser312ArgfsTer13)
c.93_96del (p.Ser31ArgfsTer13)
n.375_378del
n.364_367del
c.843_846del (p.Ser281ArgfsTer13)
c.1071_1074del (p.Ser357ArgfsTer13)
c.978_981del (p.Ser326ArgfsTer13)
 ClinVar dbSNP
Xg.19358950A>CCA412396131PDHA1c.955A>C (p.Ser319Arg)
c.*626A>C (n.*626A>C)
c.1018A>C (p.Ser340Arg)
c.1048A>C (p.Ser350Arg)
n.729A>C
c.*266A>C (n.*266A>C)
c.*389A>C (n.*389A>C)
c.934A>C (p.Ser312Arg)
c.91A>C (p.Ser31Arg)
n.373A>C
n.362A>C
c.841A>C (p.Ser281Arg)
c.1069A>C (p.Ser357Arg)
c.976A>C (p.Ser326Arg)
Xg.19358950A>GCA412396132PDHA1c.955A>G (p.Ser319Gly)
c.*626A>G (n.*626A>G)
c.1018A>G (p.Ser340Gly)
c.1048A>G (p.Ser350Gly)
n.729A>G
c.*266A>G (n.*266A>G)
c.*389A>G (n.*389A>G)
c.934A>G (p.Ser312Gly)
c.91A>G (p.Ser31Gly)
n.373A>G
n.362A>G
c.841A>G (p.Ser281Gly)
c.1069A>G (p.Ser357Gly)
c.976A>G (p.Ser326Gly)
 gnomAD v4
Xg.19358950A>TCA412396130PDHA1c.955A>T (p.Ser319Cys)
c.*626A>T (n.*626A>T)
c.1018A>T (p.Ser340Cys)
c.1048A>T (p.Ser350Cys)
n.729A>T
c.*266A>T (n.*266A>T)
c.*389A>T (n.*389A>T)
c.934A>T (p.Ser312Cys)
c.91A>T (p.Ser31Cys)
n.373A>T
n.362A>T
c.841A>T (p.Ser281Cys)
c.1069A>T (p.Ser357Cys)
c.976A>T (p.Ser326Cys)
Xg.19358953_19358958dupCA2695231655PDHA1c.958_963dup (p.Ser321_Asp322insLysSer)
c.*629_*634dup (n.*629_*634dup)
c.1021_1026dup (p.Ser342_Asp343insLysSer)
c.1051_1056dup (p.Ser352_Asp353insLysSer)
n.732_737dup
c.*269_*274dup (n.*269_*274dup)
c.*392_*397dup (n.*392_*397dup)
c.937_942dup (p.Ser314_Asp315insLysSer)
c.94_99dup (p.Ser33_Asp34insLysSer)
n.376_381dup
n.365_370dup
c.844_849dup (p.Ser283_Asp284insLysSer)
c.1072_1077dup (p.Ser359_Asp360insLysSer)
c.979_984dup (p.Ser328_Asp329insLysSer)
Xg.19358950_19359008dupCA915950757PDHA1c.955_1013dup (p.Ser338ArgfsTer15)
c.*626_*684dup (n.*626_*684dup)
c.1018_1076dup (p.Ser359ArgfsTer15)
c.1048_1106dup (p.Ser369ArgfsTer15)
n.729_787dup
c.*266_*324dup (n.*266_*324dup)
c.*389_*447dup (n.*389_*447dup)
c.934_992dup (p.Ser331ArgfsTer15)
c.91_149dup (p.Ser50ArgfsTer15)
n.373_431dup
n.362_420dup
c.841_899dup (p.Ser300ArgfsTer15)
c.1069_1127dup (p.Ser376ArgfsTer15)
c.976_1034dup (p.Ser345ArgfsTer15)
 ClinVar dbSNP
Xg.19358951G>ACA412396133PDHA1c.956G>A (p.Ser319Asn)
c.*627G>A (n.*627G>A)
c.1019G>A (p.Ser340Asn)
c.1049G>A (p.Ser350Asn)
n.730G>A
c.*267G>A (n.*267G>A)
c.*390G>A (n.*390G>A)
c.935G>A (p.Ser312Asn)
c.92G>A (p.Ser31Asn)
n.374G>A
n.363G>A
c.842G>A (p.Ser281Asn)
c.1070G>A (p.Ser357Asn)
c.977G>A (p.Ser326Asn)
 gnomAD v4
Xg.19358951G>CCA412396134PDHA1c.956G>C (p.Ser319Thr)
c.*627G>C (n.*627G>C)
c.1019G>C (p.Ser340Thr)
c.1049G>C (p.Ser350Thr)
n.730G>C
c.*267G>C (n.*267G>C)
c.*390G>C (n.*390G>C)
c.935G>C (p.Ser312Thr)
c.92G>C (p.Ser31Thr)
n.374G>C
n.363G>C
c.842G>C (p.Ser281Thr)
c.1070G>C (p.Ser357Thr)
c.977G>C (p.Ser326Thr)
Xg.19358951G>TCA412396135PDHA1c.956G>T (p.Ser319Ile)
c.*627G>T (n.*627G>T)
c.1019G>T (p.Ser340Ile)
c.1049G>T (p.Ser350Ile)
n.730G>T
c.*267G>T (n.*267G>T)
c.*390G>T (n.*390G>T)
c.935G>T (p.Ser312Ile)
c.92G>T (p.Ser31Ile)
n.374G>T
n.363G>T
c.842G>T (p.Ser281Ile)
c.1070G>T (p.Ser357Ile)
c.977G>T (p.Ser326Ile)
Xg.19358952T>ACA412396136PDHA1c.957T>A (p.Ser319Arg)
c.*628T>A (n.*628T>A)
c.1020T>A (p.Ser340Arg)
c.1050T>A (p.Ser350Arg)
n.731T>A
c.*268T>A (n.*268T>A)
c.*391T>A (n.*391T>A)
c.936T>A (p.Ser312Arg)
c.93T>A (p.Ser31Arg)
n.375T>A
n.364T>A
c.843T>A (p.Ser281Arg)
c.1071T>A (p.Ser357Arg)
c.978T>A (p.Ser326Arg)
 gnomAD v4
Xg.19358952T>CCA515486319PDHA1c.957T>C (p.Ser319=)
c.*628T>C (n.*628T>C)
c.1020T>C (p.Ser340=)
c.1050T>C (p.Ser350=)
n.731T>C
c.*268T>C (n.*268T>C)
c.*391T>C (n.*391T>C)
c.936T>C (p.Ser312=)
c.93T>C (p.Ser31=)
n.375T>C
n.364T>C
c.843T>C (p.Ser281=)
c.1071T>C (p.Ser357=)
c.978T>C (p.Ser326=)
Xg.19358952T>GCA412396137PDHA1c.957T>G (p.Ser319Arg)
c.*628T>G (n.*628T>G)
c.1020T>G (p.Ser340Arg)
c.1050T>G (p.Ser350Arg)
n.731T>G
c.*268T>G (n.*268T>G)
c.*391T>G (n.*391T>G)
c.936T>G (p.Ser312Arg)
c.93T>G (p.Ser31Arg)
n.375T>G
n.364T>G
c.843T>G (p.Ser281Arg)
c.1071T>G (p.Ser357Arg)
c.978T>G (p.Ser326Arg)
Xg.19358952_19358955delinsTAAGCA2418225233PDHA1c.957_960delinsTAAG (p.Ser319=)
c.*628_*631delinsTAAG (n.*628_*631delinsTAAG)
c.1020_1023delinsTAAG (p.Ser340=)
c.1050_1053delinsTAAG (p.Ser350=)
n.731_734delinsTAAG
c.*268_*271delinsTAAG (n.*268_*271delinsTAAG)
c.*391_*394delinsTAAG (n.*391_*394delinsTAAG)
c.936_939delinsTAAG (p.Ser312=)
c.93_96delinsTAAG (p.Ser31=)
n.375_378delinsTAAG
n.364_367delinsTAAG
c.843_846delinsTAAG (p.Ser281=)
c.1071_1074delinsTAAG (p.Ser357=)
c.978_981delinsTAAG (p.Ser326=)
Xg.19358953A>CCA412396138PDHA1c.958A>C (p.Lys320Gln)
c.*629A>C (n.*629A>C)
c.1021A>C (p.Lys341Gln)
c.1051A>C (p.Lys351Gln)
n.732A>C
c.*269A>C (n.*269A>C)
c.*392A>C (n.*392A>C)
c.937A>C (p.Lys313Gln)
c.94A>C (p.Lys32Gln)
n.376A>C
n.365A>C
c.844A>C (p.Lys282Gln)
c.1072A>C (p.Lys358Gln)
c.979A>C (p.Lys327Gln)
Xg.19358953A>GCA412396139PDHA1c.958A>G (p.Lys320Glu)
c.*629A>G (n.*629A>G)
c.1021A>G (p.Lys341Glu)
c.1051A>G (p.Lys351Glu)
n.732A>G
c.*269A>G (n.*269A>G)
c.*392A>G (n.*392A>G)
c.937A>G (p.Lys313Glu)
c.94A>G (p.Lys32Glu)
n.376A>G
n.365A>G
c.844A>G (p.Lys282Glu)
c.1072A>G (p.Lys358Glu)
c.979A>G (p.Lys327Glu)
Xg.19358953A>TCA412396140PDHA1c.958A>T (p.Lys320Ter)
c.*629A>T (n.*629A>T)
c.1021A>T (p.Lys341Ter)
c.1051A>T (p.Lys351Ter)
n.732A>T
c.*269A>T (n.*269A>T)
c.*392A>T (n.*392A>T)
c.937A>T (p.Lys313Ter)
c.94A>T (p.Lys32Ter)
n.376A>T
n.365A>T
c.844A>T (p.Lys282Ter)
c.1072A>T (p.Lys358Ter)
c.979A>T (p.Lys327Ter)
Xg.19358954delCA2579566420PDHA1c.959del (p.Lys320ArgfsTer13)
c.*630del (n.*630del)
c.1022del (p.Lys341ArgfsTer13)
c.1052del (p.Lys351ArgfsTer13)
n.733del
c.*270del (n.*270del)
c.*393del (n.*393del)
c.938del (p.Lys313ArgfsTer13)
c.95del (p.Lys32ArgfsTer13)
n.377del
n.366del
c.845del (p.Lys282ArgfsTer13)
c.1073del (p.Lys358ArgfsTer13)
c.980del (p.Lys327ArgfsTer13)
Xg.19358953_19358956dupCA320449PDHA1c.958_961dup (p.Ser321LysfsTer3)
c.*629_*632dup (n.*629_*632dup)
c.1021_1024dup (p.Ser342LysfsTer3)
c.1051_1054dup (p.Ser352LysfsTer3)
n.732_735dup
c.*269_*272dup (n.*269_*272dup)
c.*392_*395dup (n.*392_*395dup)
c.937_940dup (p.Ser314LysfsTer3)
c.94_97dup (p.Ser33LysfsTer3)
n.376_379dup
n.365_368dup
c.844_847dup (p.Ser283LysfsTer3)
c.1072_1075dup (p.Ser359LysfsTer3)
c.979_982dup (p.Ser328LysfsTer3)
 ClinVar dbSNP
Xg.19358954_19358956delCA121206PDHA1c.959_961del (p.Lys320del)
c.*630_*632del (n.*630_*632del)
c.1022_1024del (p.Lys341del)
c.1052_1054del (p.Lys351del)
n.733_735del
c.*270_*272del (n.*270_*272del)
c.*393_*395del (n.*393_*395del)
c.938_940del (p.Lys313del)
c.95_97del (p.Lys32del)
n.377_379del
n.366_368del
c.845_847del (p.Lys282del)
c.1073_1075del (p.Lys358del)
c.980_982del (p.Lys327del)
 ClinVar dbSNP
Xg.19358954A>CCA412396143PDHA1c.959A>C (p.Lys320Thr)
c.*630A>C (n.*630A>C)
c.1022A>C (p.Lys341Thr)
c.1052A>C (p.Lys351Thr)
n.733A>C
c.*270A>C (n.*270A>C)
c.*393A>C (n.*393A>C)
c.938A>C (p.Lys313Thr)
c.95A>C (p.Lys32Thr)
n.377A>C
n.366A>C
c.845A>C (p.Lys282Thr)
c.1073A>C (p.Lys358Thr)
c.980A>C (p.Lys327Thr)
Xg.19358954A>GCA412396141PDHA1c.959A>G (p.Lys320Arg)
c.*630A>G (n.*630A>G)
c.1022A>G (p.Lys341Arg)
c.1052A>G (p.Lys351Arg)
n.733A>G
c.*270A>G (n.*270A>G)
c.*393A>G (n.*393A>G)
c.938A>G (p.Lys313Arg)
c.95A>G (p.Lys32Arg)
n.377A>G
n.366A>G
c.845A>G (p.Lys282Arg)
c.1073A>G (p.Lys358Arg)
c.980A>G (p.Lys327Arg)
Xg.19358954A>TCA412396142PDHA1c.959A>T (p.Lys320Met)
c.*630A>T (n.*630A>T)
c.1022A>T (p.Lys341Met)
c.1052A>T (p.Lys351Met)
n.733A>T
c.*270A>T (n.*270A>T)
c.*393A>T (n.*393A>T)
c.938A>T (p.Lys313Met)
c.95A>T (p.Lys32Met)
n.377A>T
n.366A>T
c.845A>T (p.Lys282Met)
c.1073A>T (p.Lys358Met)
c.980A>T (p.Lys327Met)
Xg.19358955G>ACA327030570PDHA1c.960G>A (p.Lys320=)
c.*631G>A (n.*631G>A)
c.1023G>A (p.Lys341=)
c.1053G>A (p.Lys351=)
n.734G>A
c.*271G>A (n.*271G>A)
c.*394G>A (n.*394G>A)
c.939G>A (p.Lys313=)
c.96G>A (p.Lys32=)
n.378G>A
n.367G>A
c.846G>A (p.Lys282=)
c.1074G>A (p.Lys358=)
c.981G>A (p.Lys327=)
 dbSNP gnomAD v4
Xg.19358955G>CCA412396144PDHA1c.960G>C (p.Lys320Asn)
c.*631G>C (n.*631G>C)
c.1023G>C (p.Lys341Asn)
c.1053G>C (p.Lys351Asn)
n.734G>C
c.*271G>C (n.*271G>C)
c.*394G>C (n.*394G>C)
c.939G>C (p.Lys313Asn)
c.96G>C (p.Lys32Asn)
n.378G>C
n.367G>C
c.846G>C (p.Lys282Asn)
c.1074G>C (p.Lys358Asn)
c.981G>C (p.Lys327Asn)
Xg.19358955G=CA2418225234PDHA1c.960G= (p.Lys320=)
c.*631G= (n.*631G=)
c.1023G= (p.Lys341=)
c.1053G= (p.Lys351=)
n.734G=
c.*271G= (n.*271G=)
c.*394G= (n.*394G=)
c.939G= (p.Lys313=)
c.96G= (p.Lys32=)
n.378G=
n.367G=
c.846G= (p.Lys282=)
c.1074G= (p.Lys358=)
c.981G= (p.Lys327=)
Xg.19358955G>TCA412396145PDHA1c.960G>T (p.Lys320Asn)
c.*631G>T (n.*631G>T)
c.1023G>T (p.Lys341Asn)
c.1053G>T (p.Lys351Asn)
n.734G>T
c.*271G>T (n.*271G>T)
c.*394G>T (n.*394G>T)
c.939G>T (p.Lys313Asn)
c.96G>T (p.Lys32Asn)
n.378G>T
n.367G>T
c.846G>T (p.Lys282Asn)
c.1074G>T (p.Lys358Asn)
c.981G>T (p.Lys327Asn)
Xg.19358956A>CCA412396146PDHA1c.961A>C (p.Ser321Arg)
c.*632A>C (n.*632A>C)
c.1024A>C (p.Ser342Arg)
c.1054A>C (p.Ser352Arg)
n.735A>C
c.*272A>C (n.*272A>C)
c.*395A>C (n.*395A>C)
c.940A>C (p.Ser314Arg)
c.97A>C (p.Ser33Arg)
n.379A>C
n.368A>C
c.847A>C (p.Ser283Arg)
c.1075A>C (p.Ser359Arg)
c.982A>C (p.Ser328Arg)
Xg.19358956A>GCA412396147PDHA1c.961A>G (p.Ser321Gly)
c.*632A>G (n.*632A>G)
c.1024A>G (p.Ser342Gly)
c.1054A>G (p.Ser352Gly)
n.735A>G
c.*272A>G (n.*272A>G)
c.*395A>G (n.*395A>G)
c.940A>G (p.Ser314Gly)
c.97A>G (p.Ser33Gly)
n.379A>G
n.368A>G
c.847A>G (p.Ser283Gly)
c.1075A>G (p.Ser359Gly)
c.982A>G (p.Ser328Gly)
 gnomAD v4
Xg.19358956A>TCA412396148PDHA1c.961A>T (p.Ser321Cys)
c.*632A>T (n.*632A>T)
c.1024A>T (p.Ser342Cys)
c.1054A>T (p.Ser352Cys)
n.735A>T
c.*272A>T (n.*272A>T)
c.*395A>T (n.*395A>T)
c.940A>T (p.Ser314Cys)
c.97A>T (p.Ser33Cys)
n.379A>T
n.368A>T
c.847A>T (p.Ser283Cys)
c.1075A>T (p.Ser359Cys)
c.982A>T (p.Ser328Cys)
Xg.19358957G>ACA412396149PDHA1c.962G>A (p.Ser321Asn)
c.*633G>A (n.*633G>A)
c.1025G>A (p.Ser342Asn)
c.1055G>A (p.Ser352Asn)
n.736G>A
c.*273G>A (n.*273G>A)
c.*396G>A (n.*396G>A)
c.941G>A (p.Ser314Asn)
c.98G>A (p.Ser33Asn)
n.380G>A
n.369G>A
c.848G>A (p.Ser283Asn)
c.1076G>A (p.Ser359Asn)
c.983G>A (p.Ser328Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.19358957G>CCA412396150PDHA1c.962G>C (p.Ser321Thr)
c.*633G>C (n.*633G>C)
c.1025G>C (p.Ser342Thr)
c.1055G>C (p.Ser352Thr)
n.736G>C
c.*273G>C (n.*273G>C)
c.*396G>C (n.*396G>C)
c.941G>C (p.Ser314Thr)
c.98G>C (p.Ser33Thr)
n.380G>C
n.369G>C
c.848G>C (p.Ser283Thr)
c.1076G>C (p.Ser359Thr)
c.983G>C (p.Ser328Thr)
Xg.19358957G=CA2418225235PDHA1c.962G= (p.Ser321=)
c.*633G= (n.*633G=)
c.1025G= (p.Ser342=)
c.1055G= (p.Ser352=)
n.736G=
c.*273G= (n.*273G=)
c.*396G= (n.*396G=)
c.941G= (p.Ser314=)
c.98G= (p.Ser33=)
n.380G=
n.369G=
c.848G= (p.Ser283=)
c.1076G= (p.Ser359=)
c.983G= (p.Ser328=)
Xg.19358957G>TCA412396151PDHA1c.962G>T (p.Ser321Ile)
c.*633G>T (n.*633G>T)
c.1025G>T (p.Ser342Ile)
c.1055G>T (p.Ser352Ile)
n.736G>T
c.*273G>T (n.*273G>T)
c.*396G>T (n.*396G>T)
c.941G>T (p.Ser314Ile)
c.98G>T (p.Ser33Ile)
n.380G>T
n.369G>T
c.848G>T (p.Ser283Ile)
c.1076G>T (p.Ser359Ile)
c.983G>T (p.Ser328Ile)
Xg.19358958T>ACA412396152PDHA1c.963T>A (p.Ser321Arg)
c.*634T>A (n.*634T>A)
c.1026T>A (p.Ser342Arg)
c.1056T>A (p.Ser352Arg)
n.737T>A
c.*274T>A (n.*274T>A)
c.*397T>A (n.*397T>A)
c.942T>A (p.Ser314Arg)
c.99T>A (p.Ser33Arg)
n.381T>A
n.370T>A
c.849T>A (p.Ser283Arg)
c.1077T>A (p.Ser359Arg)
c.984T>A (p.Ser328Arg)
Xg.19358958T>CCA515486325PDHA1c.963T>C (p.Ser321=)
c.*634T>C (n.*634T>C)
c.1026T>C (p.Ser342=)
c.1056T>C (p.Ser352=)
n.737T>C
c.*274T>C (n.*274T>C)
c.*397T>C (n.*397T>C)
c.942T>C (p.Ser314=)
c.99T>C (p.Ser33=)
n.381T>C
n.370T>C
c.849T>C (p.Ser283=)
c.1077T>C (p.Ser359=)
c.984T>C (p.Ser328=)
Xg.19358958T>GCA412396153PDHA1c.963T>G (p.Ser321Arg)
c.*634T>G (n.*634T>G)
c.1026T>G (p.Ser342Arg)
c.1056T>G (p.Ser352Arg)
n.737T>G
c.*274T>G (n.*274T>G)
c.*397T>G (n.*397T>G)
c.942T>G (p.Ser314Arg)
c.99T>G (p.Ser33Arg)
n.381T>G
n.370T>G
c.849T>G (p.Ser283Arg)
c.1077T>G (p.Ser359Arg)
c.984T>G (p.Ser328Arg)
Xg.19358959G>ACA121219PDHA1c.964G>A (p.Asp322Asn)
c.*635G>A (n.*635G>A)
c.1027G>A (p.Asp343Asn)
c.1057G>A (p.Asp353Asn)
n.738G>A
c.*275G>A (n.*275G>A)
c.*398G>A (n.*398G>A)
c.943G>A (p.Asp315Asn)
c.100G>A (p.Asp34Asn)
n.382G>A
n.371G>A
c.850G>A (p.Asp284Asn)
c.1078G>A (p.Asp360Asn)
c.985G>A (p.Asp329Asn)
 ClinVar dbSNP
Xg.19358959G>CCA412396154PDHA1c.964G>C (p.Asp322His)
c.*635G>C (n.*635G>C)
c.1027G>C (p.Asp343His)
c.1057G>C (p.Asp353His)
n.738G>C
c.*275G>C (n.*275G>C)
c.*398G>C (n.*398G>C)
c.943G>C (p.Asp315His)
c.100G>C (p.Asp34His)
n.382G>C
n.371G>C
c.850G>C (p.Asp284His)
c.1078G>C (p.Asp360His)
c.985G>C (p.Asp329His)
Xg.19358959G=CA2418225236PDHA1c.964G= (p.Asp322=)
c.*635G= (n.*635G=)
c.1027G= (p.Asp343=)
c.1057G= (p.Asp353=)
n.738G=
c.*275G= (n.*275G=)
c.*398G= (n.*398G=)
c.943G= (p.Asp315=)
c.100G= (p.Asp34=)
n.382G=
n.371G=
c.850G= (p.Asp284=)
c.1078G= (p.Asp360=)
c.985G= (p.Asp329=)
Xg.19358959G>TCA412396155PDHA1c.964G>T (p.Asp322Tyr)
c.*635G>T (n.*635G>T)
c.1027G>T (p.Asp343Tyr)
c.1057G>T (p.Asp353Tyr)
n.738G>T
c.*275G>T (n.*275G>T)
c.*398G>T (n.*398G>T)
c.943G>T (p.Asp315Tyr)
c.100G>T (p.Asp34Tyr)
n.382G>T
n.371G>T
c.850G>T (p.Asp284Tyr)
c.1078G>T (p.Asp360Tyr)
c.985G>T (p.Asp329Tyr)
Xg.19358960A>CCA412396156PDHA1c.965A>C (p.Asp322Ala)
c.*636A>C (n.*636A>C)
c.1028A>C (p.Asp343Ala)
c.1058A>C (p.Asp353Ala)
n.739A>C
c.*276A>C (n.*276A>C)
c.*399A>C (n.*399A>C)
c.944A>C (p.Asp315Ala)
c.101A>C (p.Asp34Ala)
n.383A>C
n.372A>C
c.851A>C (p.Asp284Ala)
c.1079A>C (p.Asp360Ala)
c.986A>C (p.Asp329Ala)
Xg.19358960A>GCA412396157PDHA1c.965A>G (p.Asp322Gly)
c.*636A>G (n.*636A>G)
c.1028A>G (p.Asp343Gly)
c.1058A>G (p.Asp353Gly)
n.739A>G
c.*276A>G (n.*276A>G)
c.*399A>G (n.*399A>G)
c.944A>G (p.Asp315Gly)
c.101A>G (p.Asp34Gly)
n.383A>G
n.372A>G
c.851A>G (p.Asp284Gly)
c.1079A>G (p.Asp360Gly)
c.986A>G (p.Asp329Gly)
Xg.19358960A>TCA412396158PDHA1c.965A>T (p.Asp322Val)
c.*636A>T (n.*636A>T)
c.1028A>T (p.Asp343Val)
c.1058A>T (p.Asp353Val)
n.739A>T
c.*276A>T (n.*276A>T)
c.*399A>T (n.*399A>T)
c.944A>T (p.Asp315Val)
c.101A>T (p.Asp34Val)
n.383A>T
n.372A>T
c.851A>T (p.Asp284Val)
c.1079A>T (p.Asp360Val)
c.986A>T (p.Asp329Val)
Xg.19358961C>ACA412396159PDHA1c.966C>A (p.Asp322Glu)
c.*637C>A (n.*637C>A)
c.1029C>A (p.Asp343Glu)
c.1059C>A (p.Asp353Glu)
n.740C>A
c.*277C>A (n.*277C>A)
c.*400C>A (n.*400C>A)
c.945C>A (p.Asp315Glu)
c.102C>A (p.Asp34Glu)
n.384C>A
n.373C>A
c.852C>A (p.Asp284Glu)
c.1080C>A (p.Asp360Glu)
c.987C>A (p.Asp329Glu)
Xg.19358961C=CA2418225237PDHA1c.966C= (p.Asp322=)
c.*637C= (n.*637C=)
c.1029C= (p.Asp343=)
c.1059C= (p.Asp353=)
n.740C=
c.*277C= (n.*277C=)
c.*400C= (n.*400C=)
c.945C= (p.Asp315=)
c.102C= (p.Asp34=)
n.384C=
n.373C=
c.852C= (p.Asp284=)
c.1080C= (p.Asp360=)
c.987C= (p.Asp329=)
Xg.19358961C>GCA412396160PDHA1c.966C>G (p.Asp322Glu)
c.*637C>G (n.*637C>G)
c.1029C>G (p.Asp343Glu)
c.1059C>G (p.Asp353Glu)
n.740C>G
c.*277C>G (n.*277C>G)
c.*400C>G (n.*400C>G)
c.945C>G (p.Asp315Glu)
c.102C>G (p.Asp34Glu)
n.384C>G
n.373C>G
c.852C>G (p.Asp284Glu)
c.1080C>G (p.Asp360Glu)
c.987C>G (p.Asp329Glu)
Xg.19358961C>TCA515486330PDHA1c.966C>T (p.Asp322=)
c.*637C>T (n.*637C>T)
c.1029C>T (p.Asp343=)
c.1059C>T (p.Asp353=)
n.740C>T
c.*277C>T (n.*277C>T)
c.*400C>T (n.*400C>T)
c.945C>T (p.Asp315=)
c.102C>T (p.Asp34=)
n.384C>T
n.373C>T
c.852C>T (p.Asp284=)
c.1080C>T (p.Asp360=)
c.987C>T (p.Asp329=)
 dbSNP gnomAD v3 gnomAD v4
Xg.19358962C>ACA412396161PDHA1c.967C>A (p.Pro323Thr)
c.*638C>A (n.*638C>A)
c.1030C>A (p.Pro344Thr)
c.1060C>A (p.Pro354Thr)
n.741C>A
c.*278C>A (n.*278C>A)
c.*401C>A (n.*401C>A)
c.946C>A (p.Pro316Thr)
c.103C>A (p.Pro35Thr)
n.385C>A
n.374C>A
c.853C>A (p.Pro285Thr)
c.1081C>A (p.Pro361Thr)
c.988C>A (p.Pro330Thr)
Xg.19358962C>GCA412396162PDHA1c.967C>G (p.Pro323Ala)
c.*638C>G (n.*638C>G)
c.1030C>G (p.Pro344Ala)
c.1060C>G (p.Pro354Ala)
n.741C>G
c.*278C>G (n.*278C>G)
c.*401C>G (n.*401C>G)
c.946C>G (p.Pro316Ala)
c.103C>G (p.Pro35Ala)
n.385C>G
n.374C>G
c.853C>G (p.Pro285Ala)
c.1081C>G (p.Pro361Ala)
c.988C>G (p.Pro330Ala)
 ClinVar
Xg.19358962C>TCA412396163PDHA1c.967C>T (p.Pro323Ser)
c.*638C>T (n.*638C>T)
c.1030C>T (p.Pro344Ser)
c.1060C>T (p.Pro354Ser)
n.741C>T
c.*278C>T (n.*278C>T)
c.*401C>T (n.*401C>T)
c.946C>T (p.Pro316Ser)
c.103C>T (p.Pro35Ser)
n.385C>T
n.374C>T
c.853C>T (p.Pro285Ser)
c.1081C>T (p.Pro361Ser)
c.988C>T (p.Pro330Ser)
Xg.19358963C>ACA412396164PDHA1c.968C>A (p.Pro323His)
c.*639C>A (n.*639C>A)
c.1031C>A (p.Pro344His)
c.1061C>A (p.Pro354His)
n.742C>A
c.*279C>A (n.*279C>A)
c.*402C>A (n.*402C>A)
c.947C>A (p.Pro316His)
c.104C>A (p.Pro35His)
n.386C>A
n.375C>A
c.854C>A (p.Pro285His)
c.1082C>A (p.Pro361His)
c.989C>A (p.Pro330His)
 gnomAD v4
Xg.19358963C=CA2418225238PDHA1c.968C= (p.Pro323=)
c.*639C= (n.*639C=)
c.1031C= (p.Pro344=)
c.1061C= (p.Pro354=)
n.742C=
c.*279C= (n.*279C=)
c.*402C= (n.*402C=)
c.947C= (p.Pro316=)
c.104C= (p.Pro35=)
n.386C=
n.375C=
c.854C= (p.Pro285=)
c.1082C= (p.Pro361=)
c.989C= (p.Pro330=)
Xg.19358963C>GCA412396166PDHA1c.968C>G (p.Pro323Arg)
c.*639C>G (n.*639C>G)
c.1031C>G (p.Pro344Arg)
c.1061C>G (p.Pro354Arg)
n.742C>G
c.*279C>G (n.*279C>G)
c.*402C>G (n.*402C>G)
c.947C>G (p.Pro316Arg)
c.104C>G (p.Pro35Arg)
n.386C>G
n.375C>G
c.854C>G (p.Pro285Arg)
c.1082C>G (p.Pro361Arg)
c.989C>G (p.Pro330Arg)
Xg.19358963C>TCA412396165PDHA1c.968C>T (p.Pro323Leu)
c.*639C>T (n.*639C>T)
c.1031C>T (p.Pro344Leu)
c.1061C>T (p.Pro354Leu)
n.742C>T
c.*279C>T (n.*279C>T)
c.*402C>T (n.*402C>T)
c.947C>T (p.Pro316Leu)
c.104C>T (p.Pro35Leu)
n.386C>T
n.375C>T
c.854C>T (p.Pro285Leu)
c.1082C>T (p.Pro361Leu)
c.989C>T (p.Pro330Leu)
Xg.19358964T>ACA10363166PDHA1c.969T>A (p.Pro323=)
c.*640T>A (n.*640T>A)
c.1032T>A (p.Pro344=)
c.1062T>A (p.Pro354=)
n.743T>A
c.*280T>A (n.*280T>A)
c.*403T>A (n.*403T>A)
c.948T>A (p.Pro316=)
c.105T>A (p.Pro35=)
n.387T>A
n.376T>A
c.855T>A (p.Pro285=)
c.1083T>A (p.Pro361=)
c.990T>A (p.Pro330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19358964T>CCA515486332PDHA1c.969T>C (p.Pro323=)
c.*640T>C (n.*640T>C)
c.1032T>C (p.Pro344=)
c.1062T>C (p.Pro354=)
n.743T>C
c.*280T>C (n.*280T>C)
c.*403T>C (n.*403T>C)
c.948T>C (p.Pro316=)
c.105T>C (p.Pro35=)
n.387T>C
n.376T>C
c.855T>C (p.Pro285=)
c.1083T>C (p.Pro361=)
c.990T>C (p.Pro330=)
 gnomAD v4
Xg.19358964T>GCA515486333PDHA1c.969T>G (p.Pro323=)
c.*640T>G (n.*640T>G)
c.1032T>G (p.Pro344=)
c.1062T>G (p.Pro354=)
n.743T>G
c.*280T>G (n.*280T>G)
c.*403T>G (n.*403T>G)
c.948T>G (p.Pro316=)
c.105T>G (p.Pro35=)
n.387T>G
n.376T>G
c.855T>G (p.Pro285=)
c.1083T>G (p.Pro361=)
c.990T>G (p.Pro330=)
Xg.19358964T=CA2418225239PDHA1c.969T= (p.Pro323=)
c.*640T= (n.*640T=)
c.1032T= (p.Pro344=)
c.1062T= (p.Pro354=)
n.743T=
c.*280T= (n.*280T=)
c.*403T= (n.*403T=)
c.948T= (p.Pro316=)
c.105T= (p.Pro35=)
n.387T=
n.376T=
c.855T= (p.Pro285=)
c.1083T= (p.Pro361=)
c.990T= (p.Pro330=)
Xg.19358965_19358966delCA2695231656PDHA1c.970_971del (p.Ile324TyrfsTer22)
c.*641_*642del (n.*641_*642del)
c.1033_1034del (p.Ile345TyrfsTer22)
c.1063_1064del (p.Ile355TyrfsTer22)
n.744_745del
c.*281_*282del (n.*281_*282del)
c.*404_*405del (n.*404_*405del)
c.949_950del (p.Ile317TyrfsTer22)
c.106_107del (p.Ile36TyrfsTer22)
n.388_389del
n.377_378del
c.856_857del (p.Ile286TyrfsTer22)
c.1084_1085del (p.Ile362TyrfsTer22)
c.991_992del (p.Ile331TyrfsTer22)
Xg.19358964_19358980dupCA1139667327PDHA1c.969_985dup (p.Asp329ValfsTer10)
c.*640_*656dup (n.*640_*656dup)
c.1032_1048dup (p.Asp350ValfsTer10)
c.1062_1078dup (p.Asp360ValfsTer10)
n.743_759dup
c.*280_*296dup (n.*280_*296dup)
c.*403_*419dup (n.*403_*419dup)
c.948_964dup (p.Asp322ValfsTer10)
c.105_121dup (p.Asp41ValfsTer10)
n.387_403dup
n.376_392dup
c.855_871dup (p.Asp291ValfsTer10)
c.1083_1099dup (p.Asp367ValfsTer10)
c.990_1006dup (p.Asp336ValfsTer10)
 ClinVar dbSNP
Xg.19358965_19359039dupCA640522581PDHA1c.970_1029+15dup
c.*641_*700+15dup
c.1033_1092+15dup
c.1063_1122+15dup
n.744_803+15dup
c.*281_*340+15dup
c.*404_*463+15dup
c.949_1008+15dup
c.106_165+15dup
n.388_447+15dup
c.856_915+15dup
c.1084_1143+15dup
c.991_1050+15dup
 dbSNP gnomAD v2 gnomAD v4
Xg.19358965A=CA2418225240PDHA1c.970A= (p.Ile324=)
c.*641A= (n.*641A=)
c.1033A= (p.Ile345=)
c.1063A= (p.Ile355=)
n.744A=
c.*281A= (n.*281A=)
c.*404A= (n.*404A=)
c.949A= (p.Ile317=)
c.106A= (p.Ile36=)
n.388A=
n.377A=
c.856A= (p.Ile286=)
c.1084A= (p.Ile362=)
c.991A= (p.Ile331=)
Xg.19358965A>CCA412396167PDHA1c.970A>C (p.Ile324Leu)
c.*641A>C (n.*641A>C)
c.1033A>C (p.Ile345Leu)
c.1063A>C (p.Ile355Leu)
n.744A>C
c.*281A>C (n.*281A>C)
c.*404A>C (n.*404A>C)
c.949A>C (p.Ile317Leu)
c.106A>C (p.Ile36Leu)
n.388A>C
n.377A>C
c.856A>C (p.Ile286Leu)
c.1084A>C (p.Ile362Leu)
c.991A>C (p.Ile331Leu)
Xg.19358965A>GCA412396168PDHA1c.970A>G (p.Ile324Val)
c.*641A>G (n.*641A>G)
c.1033A>G (p.Ile345Val)
c.1063A>G (p.Ile355Val)
n.744A>G
c.*281A>G (n.*281A>G)
c.*404A>G (n.*404A>G)
c.949A>G (p.Ile317Val)
c.106A>G (p.Ile36Val)
n.388A>G
n.377A>G
c.856A>G (p.Ile286Val)
c.1084A>G (p.Ile362Val)
c.991A>G (p.Ile331Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.19358965A>TCA412396169PDHA1c.970A>T (p.Ile324Phe)
c.*641A>T (n.*641A>T)
c.1033A>T (p.Ile345Phe)
c.1063A>T (p.Ile355Phe)
n.744A>T
c.*281A>T (n.*281A>T)
c.*404A>T (n.*404A>T)
c.949A>T (p.Ile317Phe)
c.106A>T (p.Ile36Phe)
n.388A>T
n.377A>T
c.856A>T (p.Ile286Phe)
c.1084A>T (p.Ile362Phe)
c.991A>T (p.Ile331Phe)
Xg.19358965_19358968dupCA1139667328PDHA1c.970_973dup (p.Met325AsnfsTer23)
c.*641_*644dup (n.*641_*644dup)
c.1033_1036dup (p.Met346AsnfsTer23)
c.1063_1066dup (p.Met356AsnfsTer23)
n.744_747dup
c.*281_*284dup (n.*281_*284dup)
c.*404_*407dup (n.*404_*407dup)
c.949_952dup (p.Met318AsnfsTer23)
c.106_109dup (p.Met37AsnfsTer23)
n.388_391dup
n.377_380dup
c.856_859dup (p.Met287AsnfsTer23)
c.1084_1087dup (p.Met363AsnfsTer23)
c.991_994dup (p.Met332AsnfsTer23)
 ClinVar dbSNP
Xg.19358966T>ACA412396172PDHA1c.971T>A (p.Ile324Asn)
c.*642T>A (n.*642T>A)
c.1034T>A (p.Ile345Asn)
c.1064T>A (p.Ile355Asn)
n.745T>A
c.*282T>A (n.*282T>A)
c.*405T>A (n.*405T>A)
c.950T>A (p.Ile317Asn)
c.107T>A (p.Ile36Asn)
n.389T>A
n.378T>A
c.857T>A (p.Ile286Asn)
c.1085T>A (p.Ile362Asn)
c.992T>A (p.Ile331Asn)
Xg.19358966T>CCA412396170PDHA1c.971T>C (p.Ile324Thr)
c.*642T>C (n.*642T>C)
c.1034T>C (p.Ile345Thr)
c.1064T>C (p.Ile355Thr)
n.745T>C
c.*282T>C (n.*282T>C)
c.*405T>C (n.*405T>C)
c.950T>C (p.Ile317Thr)
c.107T>C (p.Ile36Thr)
n.389T>C
n.378T>C
c.857T>C (p.Ile286Thr)
c.1085T>C (p.Ile362Thr)
c.992T>C (p.Ile331Thr)
Xg.19358966T>GCA412396171PDHA1c.971T>G (p.Ile324Ser)
c.*642T>G (n.*642T>G)
c.1034T>G (p.Ile345Ser)
c.1064T>G (p.Ile355Ser)
n.745T>G
c.*282T>G (n.*282T>G)
c.*405T>G (n.*405T>G)
c.950T>G (p.Ile317Ser)
c.107T>G (p.Ile36Ser)
n.389T>G
n.378T>G
c.857T>G (p.Ile286Ser)
c.1085T>G (p.Ile362Ser)
c.992T>G (p.Ile331Ser)
Xg.19358967delCA2568006414PDHA1c.972del (p.Met325CysfsTer8)
c.*643del (n.*643del)
c.1035del (p.Met346CysfsTer8)
c.1065del (p.Met356CysfsTer8)
n.746del
c.*283del (n.*283del)
c.*406del (n.*406del)
c.951del (p.Met318CysfsTer8)
c.108del (p.Met37CysfsTer8)
n.390del
n.379del
c.858del (p.Met287CysfsTer8)
c.1086del (p.Met363CysfsTer8)
c.993del (p.Met332CysfsTer8)
Xg.19358966_19358980dupCA2695231657PDHA1c.971_985dup (p.Lys328_Asp329insValMetLeuLeuLys)
c.*642_*656dup (n.*642_*656dup)
c.1034_1048dup (p.Lys349_Asp350insValMetLeuLeuLys)
c.1064_1078dup (p.Lys359_Asp360insValMetLeuLeuLys)
n.745_759dup
c.*282_*296dup (n.*282_*296dup)
c.*405_*419dup (n.*405_*419dup)
c.950_964dup (p.Lys321_Asp322insValMetLeuLeuLys)
c.107_121dup (p.Lys40_Asp41insValMetLeuLeuLys)
n.389_403dup
n.378_392dup
c.857_871dup (p.Lys290_Asp291insValMetLeuLeuLys)
c.1085_1099dup (p.Lys366_Asp367insValMetLeuLeuLys)
c.992_1006dup (p.Lys335_Asp336insValMetLeuLeuLys)
Xg.19358967T>ACA515486337PDHA1c.972T>A (p.Ile324=)
c.*643T>A (n.*643T>A)
c.1035T>A (p.Ile345=)
c.1065T>A (p.Ile355=)
n.746T>A
c.*283T>A (n.*283T>A)
c.*406T>A (n.*406T>A)
c.951T>A (p.Ile317=)
c.108T>A (p.Ile36=)
n.390T>A
n.379T>A
c.858T>A (p.Ile286=)
c.1086T>A (p.Ile362=)
c.993T>A (p.Ile331=)
Xg.19358967T>CCA515486338PDHA1c.972T>C (p.Ile324=)
c.*643T>C (n.*643T>C)
c.1035T>C (p.Ile345=)
c.1065T>C (p.Ile355=)
n.746T>C
c.*283T>C (n.*283T>C)
c.*406T>C (n.*406T>C)
c.951T>C (p.Ile317=)
c.108T>C (p.Ile36=)
n.390T>C
n.379T>C
c.858T>C (p.Ile286=)
c.1086T>C (p.Ile362=)
c.993T>C (p.Ile331=)
Xg.19358967T>GCA412396173PDHA1c.972T>G (p.Ile324Met)
c.*643T>G (n.*643T>G)
c.1035T>G (p.Ile345Met)
c.1065T>G (p.Ile355Met)
n.746T>G
c.*283T>G (n.*283T>G)
c.*406T>G (n.*406T>G)
c.951T>G (p.Ile317Met)
c.108T>G (p.Ile36Met)
n.390T>G
n.379T>G
c.858T>G (p.Ile286Met)
c.1086T>G (p.Ile362Met)
c.993T>G (p.Ile331Met)
Xg.19358968A>CCA412396174PDHA1c.973A>C (p.Met325Leu)
c.*644A>C (n.*644A>C)
c.1036A>C (p.Met346Leu)
c.1066A>C (p.Met356Leu)
n.747A>C
c.*284A>C (n.*284A>C)
c.*407A>C (n.*407A>C)
c.952A>C (p.Met318Leu)
c.109A>C (p.Met37Leu)
n.391A>C
n.380A>C
c.859A>C (p.Met287Leu)
c.1087A>C (p.Met363Leu)
c.994A>C (p.Met332Leu)
Xg.19358968A>GCA412396175PDHA1c.973A>G (p.Met325Val)
c.*644A>G (n.*644A>G)
c.1036A>G (p.Met346Val)
c.1066A>G (p.Met356Val)
n.747A>G
c.*284A>G (n.*284A>G)
c.*407A>G (n.*407A>G)
c.952A>G (p.Met318Val)
c.109A>G (p.Met37Val)
n.391A>G
n.380A>G
c.859A>G (p.Met287Val)
c.1087A>G (p.Met363Val)
c.994A>G (p.Met332Val)
Xg.19358968A>TCA412396176PDHA1c.973A>T (p.Met325Leu)
c.*644A>T (n.*644A>T)
c.1036A>T (p.Met346Leu)
c.1066A>T (p.Met356Leu)
n.747A>T
c.*284A>T (n.*284A>T)
c.*407A>T (n.*407A>T)
c.952A>T (p.Met318Leu)
c.109A>T (p.Met37Leu)
n.391A>T
n.380A>T
c.859A>T (p.Met287Leu)
c.1087A>T (p.Met363Leu)
c.994A>T (p.Met332Leu)
Xg.19358969T>ACA412396177PDHA1c.974T>A (p.Met325Lys)
c.*645T>A (n.*645T>A)
c.1037T>A (p.Met346Lys)
c.1067T>A (p.Met356Lys)
n.748T>A
c.*285T>A (n.*285T>A)
c.*408T>A (n.*408T>A)
c.953T>A (p.Met318Lys)
c.110T>A (p.Met37Lys)
n.392T>A
n.381T>A
c.860T>A (p.Met287Lys)
c.1088T>A (p.Met363Lys)
c.995T>A (p.Met332Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.19358969T>CCA412396178PDHA1c.974T>C (p.Met325Thr)
c.*645T>C (n.*645T>C)
c.1037T>C (p.Met346Thr)
c.1067T>C (p.Met356Thr)
n.748T>C
c.*285T>C (n.*285T>C)
c.*408T>C (n.*408T>C)
c.953T>C (p.Met318Thr)
c.110T>C (p.Met37Thr)
n.392T>C
n.381T>C
c.860T>C (p.Met287Thr)
c.1088T>C (p.Met363Thr)
c.995T>C (p.Met332Thr)
 gnomAD v4
Xg.19358969T>GCA412396179PDHA1c.974T>G (p.Met325Arg)
c.*645T>G (n.*645T>G)
c.1037T>G (p.Met346Arg)
c.1067T>G (p.Met356Arg)
n.748T>G
c.*285T>G (n.*285T>G)
c.*408T>G (n.*408T>G)
c.953T>G (p.Met318Arg)
c.110T>G (p.Met37Arg)
n.392T>G
n.381T>G
c.860T>G (p.Met287Arg)
c.1088T>G (p.Met363Arg)
c.995T>G (p.Met332Arg)
Xg.19358969T=CA2418225241PDHA1c.974T= (p.Met325=)
c.*645T= (n.*645T=)
c.1037T= (p.Met346=)
c.1067T= (p.Met356=)
n.748T=
c.*285T= (n.*285T=)
c.*408T= (n.*408T=)
c.953T= (p.Met318=)
c.110T= (p.Met37=)
n.392T=
n.381T=
c.860T= (p.Met287=)
c.1088T= (p.Met363=)
c.995T= (p.Met332=)
Xg.19358970G>ACA412396180PDHA1c.975G>A (p.Met325Ile)
c.*646G>A (n.*646G>A)
c.1038G>A (p.Met346Ile)
c.1068G>A (p.Met356Ile)
n.749G>A
c.*286G>A (n.*286G>A)
c.*409G>A (n.*409G>A)
c.954G>A (p.Met318Ile)
c.111G>A (p.Met37Ile)
n.393G>A
n.382G>A
c.861G>A (p.Met287Ile)
c.1089G>A (p.Met363Ile)
c.996G>A (p.Met332Ile)
 gnomAD v4
Xg.19358970G>CCA412396181PDHA1c.975G>C (p.Met325Ile)
c.*646G>C (n.*646G>C)
c.1038G>C (p.Met346Ile)
c.1068G>C (p.Met356Ile)
n.749G>C
c.*286G>C (n.*286G>C)
c.*409G>C (n.*409G>C)
c.954G>C (p.Met318Ile)
c.111G>C (p.Met37Ile)
n.393G>C
n.382G>C
c.861G>C (p.Met287Ile)
c.1089G>C (p.Met363Ile)
c.996G>C (p.Met332Ile)
Xg.19358970G>TCA412396182PDHA1c.975G>T (p.Met325Ile)
c.*646G>T (n.*646G>T)
c.1038G>T (p.Met346Ile)
c.1068G>T (p.Met356Ile)
n.749G>T
c.*286G>T (n.*286G>T)
c.*409G>T (n.*409G>T)
c.954G>T (p.Met318Ile)
c.111G>T (p.Met37Ile)
n.393G>T
n.382G>T
c.861G>T (p.Met287Ile)
c.1089G>T (p.Met363Ile)
c.996G>T (p.Met332Ile)
Xg.19358970dupCA10603427PDHA1c.975dup (p.Leu326AlafsTer21)
c.*646dup (n.*646dup)
c.1038dup (p.Leu347AlafsTer21)
c.1068dup (p.Leu357AlafsTer21)
n.749dup
c.*286dup (n.*286dup)
c.*409dup (n.*409dup)
c.954dup (p.Leu319AlafsTer21)
c.111dup (p.Leu38AlafsTer21)
n.393dup
n.382dup
c.861dup (p.Leu288AlafsTer21)
c.1089dup (p.Leu364AlafsTer21)
c.996dup (p.Leu333AlafsTer21)
 ClinVar dbSNP
Xg.19358971C>ACA412396183PDHA1c.976C>A (p.Leu326Ile)
c.*647C>A (n.*647C>A)
c.1039C>A (p.Leu347Ile)
c.1069C>A (p.Leu357Ile)
n.750C>A
c.*287C>A (n.*287C>A)
c.*410C>A (n.*410C>A)
c.955C>A (p.Leu319Ile)
c.112C>A (p.Leu38Ile)
n.394C>A
n.383C>A
c.862C>A (p.Leu288Ile)
c.1090C>A (p.Leu364Ile)
c.997C>A (p.Leu333Ile)
 gnomAD v4
Xg.19358971C=CA2418225242PDHA1c.976C= (p.Leu326=)
c.*647C= (n.*647C=)
c.1039C= (p.Leu347=)
c.1069C= (p.Leu357=)
n.750C=
c.*287C= (n.*287C=)
c.*410C= (n.*410C=)
c.955C= (p.Leu319=)
c.112C= (p.Leu38=)
n.394C=
n.383C=
c.862C= (p.Leu288=)
c.1090C= (p.Leu364=)
c.997C= (p.Leu333=)
Xg.19358971C>GCA10363167PDHA1c.976C>G (p.Leu326Val)
c.*647C>G (n.*647C>G)
c.1039C>G (p.Leu347Val)
c.1069C>G (p.Leu357Val)
n.750C>G
c.*287C>G (n.*287C>G)
c.*410C>G (n.*410C>G)
c.955C>G (p.Leu319Val)
c.112C>G (p.Leu38Val)
n.394C>G
n.383C>G
c.862C>G (p.Leu288Val)
c.1090C>G (p.Leu364Val)
c.997C>G (p.Leu333Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19358971C>TCA412396184PDHA1c.976C>T (p.Leu326Phe)
c.*647C>T (n.*647C>T)
c.1039C>T (p.Leu347Phe)
c.1069C>T (p.Leu357Phe)
n.750C>T
c.*287C>T (n.*287C>T)
c.*410C>T (n.*410C>T)
c.955C>T (p.Leu319Phe)
c.112C>T (p.Leu38Phe)
n.394C>T
n.383C>T
c.862C>T (p.Leu288Phe)
c.1090C>T (p.Leu364Phe)
c.997C>T (p.Leu333Phe)
Xg.19358972T>ACA412396187PDHA1c.977T>A (p.Leu326His)
c.*648T>A (n.*648T>A)
c.1040T>A (p.Leu347His)
c.1070T>A (p.Leu357His)
n.751T>A
c.*288T>A (n.*288T>A)
c.*411T>A (n.*411T>A)
c.956T>A (p.Leu319His)
c.113T>A (p.Leu38His)
n.395T>A
n.384T>A
c.863T>A (p.Leu288His)
c.1091T>A (p.Leu364His)
c.998T>A (p.Leu333His)
Xg.19358972T>CCA412396185PDHA1c.977T>C (p.Leu326Pro)
c.*648T>C (n.*648T>C)
c.1040T>C (p.Leu347Pro)
c.1070T>C (p.Leu357Pro)
n.751T>C
c.*288T>C (n.*288T>C)
c.*411T>C (n.*411T>C)
c.956T>C (p.Leu319Pro)
c.113T>C (p.Leu38Pro)
n.395T>C
n.384T>C
c.863T>C (p.Leu288Pro)
c.1091T>C (p.Leu364Pro)
c.998T>C (p.Leu333Pro)
Xg.19358972T>GCA412396186PDHA1c.977T>G (p.Leu326Arg)
c.*648T>G (n.*648T>G)
c.1040T>G (p.Leu347Arg)
c.1070T>G (p.Leu357Arg)
n.751T>G
c.*288T>G (n.*288T>G)
c.*411T>G (n.*411T>G)
c.956T>G (p.Leu319Arg)
c.113T>G (p.Leu38Arg)
n.395T>G
n.384T>G
c.863T>G (p.Leu288Arg)
c.1091T>G (p.Leu364Arg)
c.998T>G (p.Leu333Arg)
Xg.19358972_19358975dupCA2580100426PDHA1c.977_980dup (p.Lys328SerfsTer20)
c.*648_*651dup (n.*648_*651dup)
c.1040_1043dup (p.Lys349SerfsTer20)
c.1070_1073dup (p.Lys359SerfsTer20)
n.751_754dup
c.*288_*291dup (n.*288_*291dup)
c.*411_*414dup (n.*411_*414dup)
c.956_959dup (p.Lys321SerfsTer20)
c.113_116dup (p.Lys40SerfsTer20)
n.395_398dup
n.384_387dup
c.863_866dup (p.Lys290SerfsTer20)
c.1091_1094dup (p.Lys366SerfsTer20)
c.998_1001dup (p.Lys335SerfsTer20)
 ClinVar
Xg.19358973T>ACA515486341PDHA1c.978T>A (p.Leu326=)
c.*649T>A (n.*649T>A)
c.1041T>A (p.Leu347=)
c.1071T>A (p.Leu357=)
n.752T>A
c.*289T>A (n.*289T>A)
c.*412T>A (n.*412T>A)
c.957T>A (p.Leu319=)
c.114T>A (p.Leu38=)
n.396T>A
n.385T>A
c.864T>A (p.Leu288=)
c.1092T>A (p.Leu364=)
c.999T>A (p.Leu333=)
Xg.19358973T>CCA515486342PDHA1c.978T>C (p.Leu326=)
c.*649T>C (n.*649T>C)
c.1041T>C (p.Leu347=)
c.1071T>C (p.Leu357=)
n.752T>C
c.*289T>C (n.*289T>C)
c.*412T>C (n.*412T>C)
c.957T>C (p.Leu319=)
c.114T>C (p.Leu38=)
n.396T>C
n.385T>C
c.864T>C (p.Leu288=)
c.1092T>C (p.Leu364=)
c.999T>C (p.Leu333=)
Xg.19358973T>GCA515486343PDHA1c.978T>G (p.Leu326=)
c.*649T>G (n.*649T>G)
c.1041T>G (p.Leu347=)
c.1071T>G (p.Leu357=)
n.752T>G
c.*289T>G (n.*289T>G)
c.*412T>G (n.*412T>G)
c.957T>G (p.Leu319=)
c.114T>G (p.Leu38=)
n.396T>G
n.385T>G
c.864T>G (p.Leu288=)
c.1092T>G (p.Leu364=)
c.999T>G (p.Leu333=)
Xg.19358974C>ACA412396188PDHA1c.979C>A (p.Leu327Ile)
c.*650C>A (n.*650C>A)
c.1042C>A (p.Leu348Ile)
c.1072C>A (p.Leu358Ile)
n.753C>A
c.*290C>A (n.*290C>A)
c.*413C>A (n.*413C>A)
c.958C>A (p.Leu320Ile)
c.115C>A (p.Leu39Ile)
n.397C>A
n.386C>A
c.865C>A (p.Leu289Ile)
c.1093C>A (p.Leu365Ile)
c.1000C>A (p.Leu334Ile)
Xg.19358974C>GCA412396189PDHA1c.979C>G (p.Leu327Val)
c.*650C>G (n.*650C>G)
c.1042C>G (p.Leu348Val)
c.1072C>G (p.Leu358Val)
n.753C>G
c.*290C>G (n.*290C>G)
c.*413C>G (n.*413C>G)
c.958C>G (p.Leu320Val)
c.115C>G (p.Leu39Val)
n.397C>G
n.386C>G
c.865C>G (p.Leu289Val)
c.1093C>G (p.Leu365Val)
c.1000C>G (p.Leu334Val)
Xg.19358974C>TCA412396190PDHA1c.979C>T (p.Leu327Phe)
c.*650C>T (n.*650C>T)
c.1042C>T (p.Leu348Phe)
c.1072C>T (p.Leu358Phe)
n.753C>T
c.*290C>T (n.*290C>T)
c.*413C>T (n.*413C>T)
c.958C>T (p.Leu320Phe)
c.115C>T (p.Leu39Phe)
n.397C>T
n.386C>T
c.865C>T (p.Leu289Phe)
c.1093C>T (p.Leu365Phe)
c.1000C>T (p.Leu334Phe)
Xg.19358975T>ACA412396191PDHA1c.980T>A (p.Leu327His)
c.*651T>A (n.*651T>A)
c.1043T>A (p.Leu348His)
c.1073T>A (p.Leu358His)
n.754T>A
c.*291T>A (n.*291T>A)
c.*414T>A (n.*414T>A)
c.959T>A (p.Leu320His)
c.116T>A (p.Leu39His)
n.398T>A
n.387T>A
c.866T>A (p.Leu289His)
c.1094T>A (p.Leu365His)
c.1001T>A (p.Leu334His)
Xg.19358975T>CCA412396192PDHA1c.980T>C (p.Leu327Pro)
c.*651T>C (n.*651T>C)
c.1043T>C (p.Leu348Pro)
c.1073T>C (p.Leu358Pro)
n.754T>C
c.*291T>C (n.*291T>C)
c.*414T>C (n.*414T>C)
c.959T>C (p.Leu320Pro)
c.116T>C (p.Leu39Pro)
n.398T>C
n.387T>C
c.866T>C (p.Leu289Pro)
c.1094T>C (p.Leu365Pro)
c.1001T>C (p.Leu334Pro)
Xg.19358975T>GCA412396193PDHA1c.980T>G (p.Leu327Arg)
c.*651T>G (n.*651T>G)
c.1043T>G (p.Leu348Arg)
c.1073T>G (p.Leu358Arg)
n.754T>G
c.*291T>G (n.*291T>G)
c.*414T>G (n.*414T>G)
c.959T>G (p.Leu320Arg)
c.116T>G (p.Leu39Arg)
n.398T>G
n.387T>G
c.866T>G (p.Leu289Arg)
c.1094T>G (p.Leu365Arg)
c.1001T>G (p.Leu334Arg)
Xg.19358976_19359057dupCA1131434219PDHA1c.981_1029+33dup
c.*652_*700+33dup
c.1044_1092+33dup
c.1074_1122+33dup
n.755_803+33dup
c.*292_*340+33dup
c.*415_*463+33dup
c.960_1008+33dup
c.117_165+33dup
n.399_447+33dup
c.867_915+33dup
c.1095_1143+33dup
c.1002_1050+33dup
 gnomAD v3 gnomAD v4
Xg.19358976C>ACA515486345PDHA1c.981C>A (p.Leu327=)
c.*652C>A (n.*652C>A)
c.1044C>A (p.Leu348=)
c.1074C>A (p.Leu358=)
n.755C>A
c.*292C>A (n.*292C>A)
c.*415C>A (n.*415C>A)
c.960C>A (p.Leu320=)
c.117C>A (p.Leu39=)
n.399C>A
n.388C>A
c.867C>A (p.Leu289=)
c.1095C>A (p.Leu365=)
c.1002C>A (p.Leu334=)
 gnomAD v4
Xg.19358976C=CA2418225243PDHA1c.981C= (p.Leu327=)
c.*652C= (n.*652C=)
c.1044C= (p.Leu348=)
c.1074C= (p.Leu358=)
n.755C=
c.*292C= (n.*292C=)
c.*415C= (n.*415C=)
c.960C= (p.Leu320=)
c.117C= (p.Leu39=)
n.399C=
n.388C=
c.867C= (p.Leu289=)
c.1095C= (p.Leu365=)
c.1002C= (p.Leu334=)
Xg.19358976C>GCA515486346PDHA1c.981C>G (p.Leu327=)
c.*652C>G (n.*652C>G)
c.1044C>G (p.Leu348=)
c.1074C>G (p.Leu358=)
n.755C>G
c.*292C>G (n.*292C>G)
c.*415C>G (n.*415C>G)
c.960C>G (p.Leu320=)
c.117C>G (p.Leu39=)
n.399C>G
n.388C>G
c.867C>G (p.Leu289=)
c.1095C>G (p.Leu365=)
c.1002C>G (p.Leu334=)
Xg.19358976C>TCA515486347PDHA1c.981C>T (p.Leu327=)
c.*652C>T (n.*652C>T)
c.1044C>T (p.Leu348=)
c.1074C>T (p.Leu358=)
n.755C>T
c.*292C>T (n.*292C>T)
c.*415C>T (n.*415C>T)
c.960C>T (p.Leu320=)
c.117C>T (p.Leu39=)
n.399C>T
n.388C>T
c.867C>T (p.Leu289=)
c.1095C>T (p.Leu365=)
c.1002C>T (p.Leu334=)
 ClinVar dbSNP
Xg.19358977A>CCA412396196PDHA1c.982A>C (p.Lys328Gln)
c.*653A>C (n.*653A>C)
c.1045A>C (p.Lys349Gln)
c.1075A>C (p.Lys359Gln)
n.756A>C
c.*293A>C (n.*293A>C)
c.*416A>C (n.*416A>C)
c.961A>C (p.Lys321Gln)
c.118A>C (p.Lys40Gln)
n.400A>C
n.389A>C
c.868A>C (p.Lys290Gln)
c.1096A>C (p.Lys366Gln)
c.1003A>C (p.Lys335Gln)
 gnomAD v4
Xg.19358977A>GCA412396194PDHA1c.982A>G (p.Lys328Glu)
c.*653A>G (n.*653A>G)
c.1045A>G (p.Lys349Glu)
c.1075A>G (p.Lys359Glu)
n.756A>G
c.*293A>G (n.*293A>G)
c.*416A>G (n.*416A>G)
c.961A>G (p.Lys321Glu)
c.118A>G (p.Lys40Glu)
n.400A>G
n.389A>G
c.868A>G (p.Lys290Glu)
c.1096A>G (p.Lys366Glu)
c.1003A>G (p.Lys335Glu)
Xg.19358977A>TCA412396195PDHA1c.982A>T (p.Lys328Ter)
c.*653A>T (n.*653A>T)
c.1045A>T (p.Lys349Ter)
c.1075A>T (p.Lys359Ter)
n.756A>T
c.*293A>T (n.*293A>T)
c.*416A>T (n.*416A>T)
c.961A>T (p.Lys321Ter)
c.118A>T (p.Lys40Ter)
n.400A>T
n.389A>T
c.868A>T (p.Lys290Ter)
c.1096A>T (p.Lys366Ter)
c.1003A>T (p.Lys335Ter)
Xg.19358979_19358993dupCA916083856PDHA1c.984_998dup (p.Val332_Asn333insLysAspArgMetVal)
c.*655_*669dup (n.*655_*669dup)
c.1047_1061dup (p.Val353_Asn354insLysAspArgMetVal)
c.1077_1091dup (p.Val363_Asn364insLysAspArgMetVal)
n.758_772dup
c.*295_*309dup (n.*295_*309dup)
c.*418_*432dup (n.*418_*432dup)
c.963_977dup (p.Val325_Asn326insLysAspArgMetVal)
c.120_134dup (p.Val44_Asn45insLysAspArgMetVal)
n.402_416dup
n.391_405dup
c.870_884dup (p.Val294_Asn295insLysAspArgMetVal)
c.1098_1112dup (p.Val370_Asn371insLysAspArgMetVal)
c.1005_1019dup (p.Val339_Asn340insLysAspArgMetVal)
 ClinVar dbSNP
Xg.19358978A=CA2418225244PDHA1c.983A= (p.Lys328=)
c.*654A= (n.*654A=)
c.1046A= (p.Lys349=)
c.1076A= (p.Lys359=)
n.757A=
c.*294A= (n.*294A=)
c.*417A= (n.*417A=)
c.962A= (p.Lys321=)
c.119A= (p.Lys40=)
n.401A=
n.390A=
c.869A= (p.Lys290=)
c.1097A= (p.Lys366=)
c.1004A= (p.Lys335=)
Xg.19358978A>CCA412396197PDHA1c.983A>C (p.Lys328Thr)
c.*654A>C (n.*654A>C)
c.1046A>C (p.Lys349Thr)
c.1076A>C (p.Lys359Thr)
n.757A>C
c.*294A>C (n.*294A>C)
c.*417A>C (n.*417A>C)
c.962A>C (p.Lys321Thr)
c.119A>C (p.Lys40Thr)
n.401A>C
n.390A>C
c.869A>C (p.Lys290Thr)
c.1097A>C (p.Lys366Thr)
c.1004A>C (p.Lys335Thr)
Xg.19358978A>GCA10363168PDHA1c.983A>G (p.Lys328Arg)
c.*654A>G (n.*654A>G)
c.1046A>G (p.Lys349Arg)
c.1076A>G (p.Lys359Arg)
n.757A>G
c.*294A>G (n.*294A>G)
c.*417A>G (n.*417A>G)
c.962A>G (p.Lys321Arg)
c.119A>G (p.Lys40Arg)
n.401A>G
n.390A>G
c.869A>G (p.Lys290Arg)
c.1097A>G (p.Lys366Arg)
c.1004A>G (p.Lys335Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19358978A>TCA412396198PDHA1c.983A>T (p.Lys328Met)
c.*654A>T (n.*654A>T)
c.1046A>T (p.Lys349Met)
c.1076A>T (p.Lys359Met)
n.757A>T
c.*294A>T (n.*294A>T)
c.*417A>T (n.*417A>T)
c.962A>T (p.Lys321Met)
c.119A>T (p.Lys40Met)
n.401A>T
n.390A>T
c.869A>T (p.Lys290Met)
c.1097A>T (p.Lys366Met)
c.1004A>T (p.Lys335Met)
Xg.19358982_19358986delCA2580100427PDHA1c.987_991del (p.Arg330GlyfsTer15)
c.*658_*662del (n.*658_*662del)
c.1050_1054del (p.Arg351GlyfsTer15)
c.1080_1084del (p.Arg361GlyfsTer15)
n.761_765del
c.*298_*302del (n.*298_*302del)
c.*421_*425del (n.*421_*425del)
c.966_970del (p.Arg323GlyfsTer15)
c.123_127del (p.Arg42GlyfsTer15)
n.405_409del
n.394_398del
c.873_877del (p.Arg292GlyfsTer15)
c.1101_1105del (p.Arg368GlyfsTer15)
c.1008_1012del (p.Arg337GlyfsTer15)
 ClinVar
Xg.19358979G>ACA515486349PDHA1c.984G>A (p.Lys328=)
c.*655G>A (n.*655G>A)
c.1047G>A (p.Lys349=)
c.1077G>A (p.Lys359=)
n.758G>A
c.*295G>A (n.*295G>A)
c.*418G>A (n.*418G>A)
c.963G>A (p.Lys321=)
c.120G>A (p.Lys40=)
n.402G>A
n.391G>A
c.870G>A (p.Lys290=)
c.1098G>A (p.Lys366=)
c.1005G>A (p.Lys335=)
 dbSNP
Xg.19358979G>CCA412396199PDHA1c.984G>C (p.Lys328Asn)
c.*655G>C (n.*655G>C)
c.1047G>C (p.Lys349Asn)
c.1077G>C (p.Lys359Asn)
n.758G>C
c.*295G>C (n.*295G>C)
c.*418G>C (n.*418G>C)
c.963G>C (p.Lys321Asn)
c.120G>C (p.Lys40Asn)
n.402G>C
n.391G>C
c.870G>C (p.Lys290Asn)
c.1098G>C (p.Lys366Asn)
c.1005G>C (p.Lys335Asn)
Xg.19358979G=CA2418225245PDHA1c.984G= (p.Lys328=)
c.*655G= (n.*655G=)
c.1047G= (p.Lys349=)
c.1077G= (p.Lys359=)
n.758G=
c.*295G= (n.*295G=)
c.*418G= (n.*418G=)
c.963G= (p.Lys321=)
c.120G= (p.Lys40=)
n.402G=
n.391G=
c.870G= (p.Lys290=)
c.1098G= (p.Lys366=)
c.1005G= (p.Lys335=)
Xg.19358979G>TCA412396200PDHA1c.984G>T (p.Lys328Asn)
c.*655G>T (n.*655G>T)
c.1047G>T (p.Lys349Asn)
c.1077G>T (p.Lys359Asn)
n.758G>T
c.*295G>T (n.*295G>T)
c.*418G>T (n.*418G>T)
c.963G>T (p.Lys321Asn)
c.120G>T (p.Lys40Asn)
n.402G>T
n.391G>T
c.870G>T (p.Lys290Asn)
c.1098G>T (p.Lys366Asn)
c.1005G>T (p.Lys335Asn)
 gnomAD v4
Xg.19358980G>ACA412396203PDHA1c.985G>A (p.Asp329Asn)
c.*656G>A (n.*656G>A)
c.1048G>A (p.Asp350Asn)
c.1078G>A (p.Asp360Asn)
n.759G>A
c.*296G>A (n.*296G>A)
c.*419G>A (n.*419G>A)
c.964G>A (p.Asp322Asn)
c.121G>A (p.Asp41Asn)
n.403G>A
n.392G>A
c.871G>A (p.Asp291Asn)
c.1099G>A (p.Asp367Asn)
c.1006G>A (p.Asp336Asn)
Xg.19358980G>CCA412396201PDHA1c.985G>C (p.Asp329His)
c.*656G>C (n.*656G>C)
c.1048G>C (p.Asp350His)
c.1078G>C (p.Asp360His)
n.759G>C
c.*296G>C (n.*296G>C)
c.*419G>C (n.*419G>C)
c.964G>C (p.Asp322His)
c.121G>C (p.Asp41His)
n.403G>C
n.392G>C
c.871G>C (p.Asp291His)
c.1099G>C (p.Asp367His)
c.1006G>C (p.Asp336His)
Xg.19358980G>TCA412396202PDHA1c.985G>T (p.Asp329Tyr)
c.*656G>T (n.*656G>T)
c.1048G>T (p.Asp350Tyr)
c.1078G>T (p.Asp360Tyr)
n.759G>T
c.*296G>T (n.*296G>T)
c.*419G>T (n.*419G>T)
c.964G>T (p.Asp322Tyr)
c.121G>T (p.Asp41Tyr)
n.403G>T
n.392G>T
c.871G>T (p.Asp291Tyr)
c.1099G>T (p.Asp367Tyr)
c.1006G>T (p.Asp336Tyr)
Xg.19358981A>CCA412396204PDHA1c.986A>C (p.Asp329Ala)
c.*657A>C (n.*657A>C)
c.1049A>C (p.Asp350Ala)
c.1079A>C (p.Asp360Ala)
n.760A>C
c.*297A>C (n.*297A>C)
c.*420A>C (n.*420A>C)
c.965A>C (p.Asp322Ala)
c.122A>C (p.Asp41Ala)
n.404A>C
n.393A>C
c.872A>C (p.Asp291Ala)
c.1100A>C (p.Asp367Ala)
c.1007A>C (p.Asp336Ala)
Xg.19358981A>GCA412396205PDHA1c.986A>G (p.Asp329Gly)
c.*657A>G (n.*657A>G)
c.1049A>G (p.Asp350Gly)
c.1079A>G (p.Asp360Gly)
n.760A>G
c.*297A>G (n.*297A>G)
c.*420A>G (n.*420A>G)
c.965A>G (p.Asp322Gly)
c.122A>G (p.Asp41Gly)
n.404A>G
n.393A>G
c.872A>G (p.Asp291Gly)
c.1100A>G (p.Asp367Gly)
c.1007A>G (p.Asp336Gly)
Xg.19358981A>TCA412396206PDHA1c.986A>T (p.Asp329Val)
c.*657A>T (n.*657A>T)
c.1049A>T (p.Asp350Val)
c.1079A>T (p.Asp360Val)
n.760A>T
c.*297A>T (n.*297A>T)
c.*420A>T (n.*420A>T)
c.965A>T (p.Asp322Val)
c.122A>T (p.Asp41Val)
n.404A>T
n.393A>T
c.872A>T (p.Asp291Val)
c.1100A>T (p.Asp367Val)
c.1007A>T (p.Asp336Val)
Xg.19358982C>ACA412396207PDHA1c.987C>A (p.Asp329Glu)
c.*658C>A (n.*658C>A)
c.1050C>A (p.Asp350Glu)
c.1080C>A (p.Asp360Glu)
n.761C>A
c.*298C>A (n.*298C>A)
c.*421C>A (n.*421C>A)
c.966C>A (p.Asp322Glu)
c.123C>A (p.Asp41Glu)
n.405C>A
n.394C>A
c.873C>A (p.Asp291Glu)
c.1101C>A (p.Asp367Glu)
c.1008C>A (p.Asp336Glu)
 gnomAD v4
Xg.19358982C=CA2418225246PDHA1c.987C= (p.Asp329=)
c.*658C= (n.*658C=)
c.1050C= (p.Asp350=)
c.1080C= (p.Asp360=)
n.761C=
c.*298C= (n.*298C=)
c.*421C= (n.*421C=)
c.966C= (p.Asp322=)
c.123C= (p.Asp41=)
n.405C=
n.394C=
c.873C= (p.Asp291=)
c.1101C= (p.Asp367=)
c.1008C= (p.Asp336=)
Xg.19358982C>GCA412396208PDHA1c.987C>G (p.Asp329Glu)
c.*658C>G (n.*658C>G)
c.1050C>G (p.Asp350Glu)
c.1080C>G (p.Asp360Glu)
n.761C>G
c.*298C>G (n.*298C>G)
c.*421C>G (n.*421C>G)
c.966C>G (p.Asp322Glu)
c.123C>G (p.Asp41Glu)
n.405C>G
n.394C>G
c.873C>G (p.Asp291Glu)
c.1101C>G (p.Asp367Glu)
c.1008C>G (p.Asp336Glu)
Xg.19358982C>TCA515486352PDHA1c.987C>T (p.Asp329=)
c.*658C>T (n.*658C>T)
c.1050C>T (p.Asp350=)
c.1080C>T (p.Asp360=)
n.761C>T
c.*298C>T (n.*298C>T)
c.*421C>T (n.*421C>T)
c.966C>T (p.Asp322=)
c.123C>T (p.Asp41=)
n.405C>T
n.394C>T
c.873C>T (p.Asp291=)
c.1101C>T (p.Asp367=)
c.1008C>T (p.Asp336=)
 ClinVar dbSNP
Xg.19358983A>CCA515486354PDHA1c.988A>C (p.Arg330=)
c.*659A>C (n.*659A>C)
c.1051A>C (p.Arg351=)
c.1081A>C (p.Arg361=)
n.762A>C
c.*299A>C (n.*299A>C)
c.*422A>C (n.*422A>C)
c.967A>C (p.Arg323=)
c.124A>C (p.Arg42=)
n.406A>C
n.395A>C
c.874A>C (p.Arg292=)
c.1102A>C (p.Arg368=)
c.1009A>C (p.Arg337=)
 gnomAD v4
Xg.19358983A>GCA412396209PDHA1c.988A>G (p.Arg330Gly)
c.*659A>G (n.*659A>G)
c.1051A>G (p.Arg351Gly)
c.1081A>G (p.Arg361Gly)
n.762A>G
c.*299A>G (n.*299A>G)
c.*422A>G (n.*422A>G)
c.967A>G (p.Arg323Gly)
c.124A>G (p.Arg42Gly)
n.406A>G
n.395A>G
c.874A>G (p.Arg292Gly)
c.1102A>G (p.Arg368Gly)
c.1009A>G (p.Arg337Gly)
Xg.19358983A>TCA412396210PDHA1c.988A>T (p.Arg330Trp)
c.*659A>T (n.*659A>T)
c.1051A>T (p.Arg351Trp)
c.1081A>T (p.Arg361Trp)
n.762A>T
c.*299A>T (n.*299A>T)
c.*422A>T (n.*422A>T)
c.967A>T (p.Arg323Trp)
c.124A>T (p.Arg42Trp)
n.406A>T
n.395A>T
c.874A>T (p.Arg292Trp)
c.1102A>T (p.Arg368Trp)
c.1009A>T (p.Arg337Trp)
Xg.19358984G>ACA412396211PDHA1c.989G>A (p.Arg330Lys)
c.*660G>A (n.*660G>A)
c.1052G>A (p.Arg351Lys)
c.1082G>A (p.Arg361Lys)
n.763G>A
c.*300G>A (n.*300G>A)
c.*423G>A (n.*423G>A)
c.968G>A (p.Arg323Lys)
c.125G>A (p.Arg42Lys)
n.407G>A
n.396G>A
c.875G>A (p.Arg292Lys)
c.1103G>A (p.Arg368Lys)
c.1010G>A (p.Arg337Lys)
 gnomAD v4
Xg.19358984G>CCA412396212PDHA1c.989G>C (p.Arg330Thr)
c.*660G>C (n.*660G>C)
c.1052G>C (p.Arg351Thr)
c.1082G>C (p.Arg361Thr)
n.763G>C
c.*300G>C (n.*300G>C)
c.*423G>C (n.*423G>C)
c.968G>C (p.Arg323Thr)
c.125G>C (p.Arg42Thr)
n.407G>C
n.396G>C
c.875G>C (p.Arg292Thr)
c.1103G>C (p.Arg368Thr)
c.1010G>C (p.Arg337Thr)
Xg.19358984G>TCA412396213PDHA1c.989G>T (p.Arg330Met)
c.*660G>T (n.*660G>T)
c.1052G>T (p.Arg351Met)
c.1082G>T (p.Arg361Met)
n.763G>T
c.*300G>T (n.*300G>T)
c.*423G>T (n.*423G>T)
c.968G>T (p.Arg323Met)
c.125G>T (p.Arg42Met)
n.407G>T
n.396G>T
c.875G>T (p.Arg292Met)
c.1103G>T (p.Arg368Met)
c.1010G>T (p.Arg337Met)
 gnomAD v4
Xg.19358984_19358996dupCA2695231658PDHA1c.989_1001dup (p.Ser334ArgfsTer17)
c.*660_*672dup (n.*660_*672dup)
c.1052_1064dup (p.Ser355ArgfsTer17)
c.1082_1094dup (p.Ser365ArgfsTer17)
n.763_775dup
c.*300_*312dup (n.*300_*312dup)
c.*423_*435dup (n.*423_*435dup)
c.968_980dup (p.Ser327ArgfsTer17)
c.125_137dup (p.Ser46ArgfsTer17)
n.407_419dup
n.396_408dup
c.875_887dup (p.Ser296ArgfsTer17)
c.1103_1115dup (p.Ser372ArgfsTer17)
c.1010_1022dup (p.Ser341ArgfsTer17)
Xg.19358985G>ACA515486357PDHA1c.990G>A (p.Arg330=)
c.*661G>A (n.*661G>A)
c.1053G>A (p.Arg351=)
c.1083G>A (p.Arg361=)
n.764G>A
c.*301G>A (n.*301G>A)
c.*424G>A (n.*424G>A)
c.969G>A (p.Arg323=)
c.126G>A (p.Arg42=)
n.408G>A
n.397G>A
c.876G>A (p.Arg292=)
c.1104G>A (p.Arg368=)
c.1011G>A (p.Arg337=)
 dbSNP gnomAD v4
Xg.19358985G>CCA412396214PDHA1c.990G>C (p.Arg330Ser)
c.*661G>C (n.*661G>C)
c.1053G>C (p.Arg351Ser)
c.1083G>C (p.Arg361Ser)
n.764G>C
c.*301G>C (n.*301G>C)
c.*424G>C (n.*424G>C)
c.969G>C (p.Arg323Ser)
c.126G>C (p.Arg42Ser)
n.408G>C
n.397G>C
c.876G>C (p.Arg292Ser)
c.1104G>C (p.Arg368Ser)
c.1011G>C (p.Arg337Ser)
 dbSNP
Xg.19358985G=CA2418225247PDHA1c.990G= (p.Arg330=)
c.*661G= (n.*661G=)
c.1053G= (p.Arg351=)
c.1083G= (p.Arg361=)
n.764G=
c.*301G= (n.*301G=)
c.*424G= (n.*424G=)
c.969G= (p.Arg323=)
c.126G= (p.Arg42=)
n.408G=
n.397G=
c.876G= (p.Arg292=)
c.1104G= (p.Arg368=)
c.1011G= (p.Arg337=)
Xg.19358985G>TCA412396215PDHA1c.990G>T (p.Arg330Ser)
c.*661G>T (n.*661G>T)
c.1053G>T (p.Arg351Ser)
c.1083G>T (p.Arg361Ser)
n.764G>T
c.*301G>T (n.*301G>T)
c.*424G>T (n.*424G>T)
c.969G>T (p.Arg323Ser)
c.126G>T (p.Arg42Ser)
n.408G>T
n.397G>T
c.876G>T (p.Arg292Ser)
c.1104G>T (p.Arg368Ser)
c.1011G>T (p.Arg337Ser)
 gnomAD v4
Xg.19358986A>CCA412396216PDHA1c.991A>C (p.Met331Leu)
c.*662A>C (n.*662A>C)
c.1054A>C (p.Met352Leu)
c.1084A>C (p.Met362Leu)
n.765A>C
c.*302A>C (n.*302A>C)
c.*425A>C (n.*425A>C)
c.970A>C (p.Met324Leu)
c.127A>C (p.Met43Leu)
n.409A>C
n.398A>C
c.877A>C (p.Met293Leu)
c.1105A>C (p.Met369Leu)
c.1012A>C (p.Met338Leu)
Xg.19358986A>GCA412396218PDHA1c.991A>G (p.Met331Val)
c.*662A>G (n.*662A>G)
c.1054A>G (p.Met352Val)
c.1084A>G (p.Met362Val)
n.765A>G
c.*302A>G (n.*302A>G)
c.*425A>G (n.*425A>G)
c.970A>G (p.Met324Val)
c.127A>G (p.Met43Val)
n.409A>G
n.398A>G
c.877A>G (p.Met293Val)
c.1105A>G (p.Met369Val)
c.1012A>G (p.Met338Val)
Xg.19358986A>TCA412396217PDHA1c.991A>T (p.Met331Leu)
c.*662A>T (n.*662A>T)
c.1054A>T (p.Met352Leu)
c.1084A>T (p.Met362Leu)
n.765A>T
c.*302A>T (n.*302A>T)
c.*425A>T (n.*425A>T)
c.970A>T (p.Met324Leu)
c.127A>T (p.Met43Leu)
n.409A>T
n.398A>T
c.877A>T (p.Met293Leu)
c.1105A>T (p.Met369Leu)
c.1012A>T (p.Met338Leu)
Xg.19358987T>ACA412396219PDHA1c.992T>A (p.Met331Lys)
c.*663T>A (n.*663T>A)
c.1055T>A (p.Met352Lys)
c.1085T>A (p.Met362Lys)
n.766T>A
c.*303T>A (n.*303T>A)
c.*426T>A (n.*426T>A)
c.971T>A (p.Met324Lys)
c.128T>A (p.Met43Lys)
n.410T>A
n.399T>A
c.878T>A (p.Met293Lys)
c.1106T>A (p.Met369Lys)
c.1013T>A (p.Met338Lys)
Xg.19358987T>CCA412396221PDHA1c.992T>C (p.Met331Thr)
c.*663T>C (n.*663T>C)
c.1055T>C (p.Met352Thr)
c.1085T>C (p.Met362Thr)
n.766T>C
c.*303T>C (n.*303T>C)
c.*426T>C (n.*426T>C)
c.971T>C (p.Met324Thr)
c.128T>C (p.Met43Thr)
n.410T>C
n.399T>C
c.878T>C (p.Met293Thr)
c.1106T>C (p.Met369Thr)
c.1013T>C (p.Met338Thr)
Xg.19358987T>GCA412396220PDHA1c.992T>G (p.Met331Arg)
c.*663T>G (n.*663T>G)
c.1055T>G (p.Met352Arg)
c.1085T>G (p.Met362Arg)
n.766T>G
c.*303T>G (n.*303T>G)
c.*426T>G (n.*426T>G)
c.971T>G (p.Met324Arg)
c.128T>G (p.Met43Arg)
n.410T>G
n.399T>G
c.878T>G (p.Met293Arg)
c.1106T>G (p.Met369Arg)
c.1013T>G (p.Met338Arg)
Xg.19358989_19359051dupCA2693251100PDHA1c.994_1029+27dup
c.*665_*700+27dup
c.1057_1092+27dup
c.1087_1122+27dup
n.768_803+27dup
c.*305_*340+27dup
c.*428_*463+27dup
c.973_1008+27dup
c.130_165+27dup
n.412_447+27dup
c.880_915+27dup
c.1108_1143+27dup
c.1015_1050+27dup
 gnomAD v4
Xg.19358988G>ACA10363169PDHA1c.993G>A (p.Met331Ile)
c.*664G>A (n.*664G>A)
c.1056G>A (p.Met352Ile)
c.1086G>A (p.Met362Ile)
n.767G>A
c.*304G>A (n.*304G>A)
c.*427G>A (n.*427G>A)
c.972G>A (p.Met324Ile)
c.129G>A (p.Met43Ile)
n.411G>A
n.400G>A
c.879G>A (p.Met293Ile)
c.1107G>A (p.Met369Ile)
c.1014G>A (p.Met338Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19358988G>CCA412396222PDHA1c.993G>C (p.Met331Ile)
c.*664G>C (n.*664G>C)
c.1056G>C (p.Met352Ile)
c.1086G>C (p.Met362Ile)
n.767G>C
c.*304G>C (n.*304G>C)
c.*427G>C (n.*427G>C)
c.972G>C (p.Met324Ile)
c.129G>C (p.Met43Ile)
n.411G>C
n.400G>C
c.879G>C (p.Met293Ile)
c.1107G>C (p.Met369Ile)
c.1014G>C (p.Met338Ile)
Xg.19358988G=CA2418225248PDHA1c.993G= (p.Met331=)
c.*664G= (n.*664G=)
c.1056G= (p.Met352=)
c.1086G= (p.Met362=)
n.767G=
c.*304G= (n.*304G=)
c.*427G= (n.*427G=)
c.972G= (p.Met324=)
c.129G= (p.Met43=)
n.411G=
n.400G=
c.879G= (p.Met293=)
c.1107G= (p.Met369=)
c.1014G= (p.Met338=)
Xg.19358988G>TCA412396223PDHA1c.993G>T (p.Met331Ile)
c.*664G>T (n.*664G>T)
c.1056G>T (p.Met352Ile)
c.1086G>T (p.Met362Ile)
n.767G>T
c.*304G>T (n.*304G>T)
c.*427G>T (n.*427G>T)
c.972G>T (p.Met324Ile)
c.129G>T (p.Met43Ile)
n.411G>T
n.400G>T
c.879G>T (p.Met293Ile)
c.1107G>T (p.Met369Ile)
c.1014G>T (p.Met338Ile)
Xg.19358989G>ACA412396224PDHA1c.994G>A (p.Val332Met)
c.*665G>A (n.*665G>A)
c.1057G>A (p.Val353Met)
c.1087G>A (p.Val363Met)
n.768G>A
c.*305G>A (n.*305G>A)
c.*428G>A (n.*428G>A)
c.973G>A (p.Val325Met)
c.130G>A (p.Val44Met)
n.412G>A
n.401G>A
c.880G>A (p.Val294Met)
c.1108G>A (p.Val370Met)
c.1015G>A (p.Val339Met)
Xg.19358989G>CCA412396225PDHA1c.994G>C (p.Val332Leu)
c.*665G>C (n.*665G>C)
c.1057G>C (p.Val353Leu)
c.1087G>C (p.Val363Leu)
n.768G>C
c.*305G>C (n.*305G>C)
c.*428G>C (n.*428G>C)
c.973G>C (p.Val325Leu)
c.130G>C (p.Val44Leu)
n.412G>C
n.401G>C
c.880G>C (p.Val294Leu)
c.1108G>C (p.Val370Leu)
c.1015G>C (p.Val339Leu)
Xg.19358989G>TCA412396226PDHA1c.994G>T (p.Val332Leu)
c.*665G>T (n.*665G>T)
c.1057G>T (p.Val353Leu)
c.1087G>T (p.Val363Leu)
n.768G>T
c.*305G>T (n.*305G>T)
c.*428G>T (n.*428G>T)
c.973G>T (p.Val325Leu)
c.130G>T (p.Val44Leu)
n.412G>T
n.401G>T
c.880G>T (p.Val294Leu)
c.1108G>T (p.Val370Leu)
c.1015G>T (p.Val339Leu)
Xg.19358990T>ACA412396227PDHA1c.995T>A (p.Val332Glu)
c.*666T>A (n.*666T>A)
c.1058T>A (p.Val353Glu)
c.1088T>A (p.Val363Glu)
n.769T>A
c.*306T>A (n.*306T>A)
c.*429T>A (n.*429T>A)
c.974T>A (p.Val325Glu)
c.131T>A (p.Val44Glu)
n.413T>A
n.402T>A
c.881T>A (p.Val294Glu)
c.1109T>A (p.Val370Glu)
c.1016T>A (p.Val339Glu)
 gnomAD v4
Xg.19358990T>CCA412396228PDHA1c.995T>C (p.Val332Ala)
c.*666T>C (n.*666T>C)
c.1058T>C (p.Val353Ala)
c.1088T>C (p.Val363Ala)
n.769T>C
c.*306T>C (n.*306T>C)
c.*429T>C (n.*429T>C)
c.974T>C (p.Val325Ala)
c.131T>C (p.Val44Ala)
n.413T>C
n.402T>C
c.881T>C (p.Val294Ala)
c.1109T>C (p.Val370Ala)
c.1016T>C (p.Val339Ala)
 gnomAD v4
Xg.19358990T>GCA412396229PDHA1c.995T>G (p.Val332Gly)
c.*666T>G (n.*666T>G)
c.1058T>G (p.Val353Gly)
c.1088T>G (p.Val363Gly)
n.769T>G
c.*306T>G (n.*306T>G)
c.*429T>G (n.*429T>G)
c.974T>G (p.Val325Gly)
c.131T>G (p.Val44Gly)
n.413T>G
n.402T>G
c.881T>G (p.Val294Gly)
c.1109T>G (p.Val370Gly)
c.1016T>G (p.Val339Gly)
Xg.19358991G>ACA515486362PDHA1c.996G>A (p.Val332=)
c.*667G>A (n.*667G>A)
c.1059G>A (p.Val353=)
c.1089G>A (p.Val363=)
n.770G>A
c.*307G>A (n.*307G>A)
c.*430G>A (n.*430G>A)
c.975G>A (p.Val325=)
c.132G>A (p.Val44=)
n.414G>A
n.403G>A
c.882G>A (p.Val294=)
c.1110G>A (p.Val370=)
c.1017G>A (p.Val339=)
 gnomAD v4
Xg.19358991G>CCA515486364PDHA1c.996G>C (p.Val332=)
c.*667G>C (n.*667G>C)
c.1059G>C (p.Val353=)
c.1089G>C (p.Val363=)
n.770G>C
c.*307G>C (n.*307G>C)
c.*430G>C (n.*430G>C)
c.975G>C (p.Val325=)
c.132G>C (p.Val44=)
n.414G>C
n.403G>C
c.882G>C (p.Val294=)
c.1110G>C (p.Val370=)
c.1017G>C (p.Val339=)
Xg.19358991G>TCA515486366PDHA1c.996G>T (p.Val332=)
c.*667G>T (n.*667G>T)
c.1059G>T (p.Val353=)
c.1089G>T (p.Val363=)
n.770G>T
c.*307G>T (n.*307G>T)
c.*430G>T (n.*430G>T)
c.975G>T (p.Val325=)
c.132G>T (p.Val44=)
n.414G>T
n.403G>T
c.882G>T (p.Val294=)
c.1110G>T (p.Val370=)
c.1017G>T (p.Val339=)
Xg.19358992A>CCA412396230PDHA1c.997A>C (p.Asn333His)
c.*668A>C (n.*668A>C)
c.1060A>C (p.Asn354His)
c.1090A>C (p.Asn364His)
n.771A>C
c.*308A>C (n.*308A>C)
c.*431A>C (n.*431A>C)
c.976A>C (p.Asn326His)
c.133A>C (p.Asn45His)
n.415A>C
n.404A>C
c.883A>C (p.Asn295His)
c.1111A>C (p.Asn371His)
c.1018A>C (p.Asn340His)
Xg.19358992A>GCA412396231PDHA1c.997A>G (p.Asn333Asp)
c.*668A>G (n.*668A>G)
c.1060A>G (p.Asn354Asp)
c.1090A>G (p.Asn364Asp)
n.771A>G
c.*308A>G (n.*308A>G)
c.*431A>G (n.*431A>G)
c.976A>G (p.Asn326Asp)
c.133A>G (p.Asn45Asp)
n.415A>G
n.404A>G
c.883A>G (p.Asn295Asp)
c.1111A>G (p.Asn371Asp)
c.1018A>G (p.Asn340Asp)
Xg.19358992A>TCA412396232PDHA1c.997A>T (p.Asn333Tyr)
c.*668A>T (n.*668A>T)
c.1060A>T (p.Asn354Tyr)
c.1090A>T (p.Asn364Tyr)
n.771A>T
c.*308A>T (n.*308A>T)
c.*431A>T (n.*431A>T)
c.976A>T (p.Asn326Tyr)
c.133A>T (p.Asn45Tyr)
n.415A>T
n.404A>T
c.883A>T (p.Asn295Tyr)
c.1111A>T (p.Asn371Tyr)
c.1018A>T (p.Asn340Tyr)
Xg.19358992_19358993insGGACAGGATGGTGAACA2695231659PDHA1c.997_998insGGACAGGATGGTGAA (p.Asn333ArgfsTer5)
c.*668_*669insGGACAGGATGGTGAA (n.*668_*669insGGACAGGATGGTGAA)
c.1060_1061insGGACAGGATGGTGAA (p.Asn354ArgfsTer5)
c.1090_1091insGGACAGGATGGTGAA (p.Asn364ArgfsTer5)
n.771_772insGGACAGGATGGTGAA
c.*308_*309insGGACAGGATGGTGAA (n.*308_*309insGGACAGGATGGTGAA)
c.*431_*432insGGACAGGATGGTGAA (n.*431_*432insGGACAGGATGGTGAA)
c.976_977insGGACAGGATGGTGAA (p.Asn326ArgfsTer5)
c.133_134insGGACAGGATGGTGAA (p.Asn45ArgfsTer5)
n.415_416insGGACAGGATGGTGAA
n.404_405insGGACAGGATGGTGAA
c.883_884insGGACAGGATGGTGAA (p.Asn295ArgfsTer5)
c.1111_1112insGGACAGGATGGTGAA (p.Asn371ArgfsTer5)
c.1018_1019insGGACAGGATGGTGAA (p.Asn340ArgfsTer5)
Xg.19358993A>CCA412396235PDHA1c.998A>C (p.Asn333Thr)
c.*669A>C (n.*669A>C)
c.1061A>C (p.Asn354Thr)
c.1091A>C (p.Asn364Thr)
n.772A>C
c.*309A>C (n.*309A>C)
c.*432A>C (n.*432A>C)
c.977A>C (p.Asn326Thr)
c.134A>C (p.Asn45Thr)
n.416A>C
n.405A>C
c.884A>C (p.Asn295Thr)
c.1112A>C (p.Asn371Thr)
c.1019A>C (p.Asn340Thr)
Xg.19358993A>GCA412396233PDHA1c.998A>G (p.Asn333Ser)
c.*669A>G (n.*669A>G)
c.1061A>G (p.Asn354Ser)
c.1091A>G (p.Asn364Ser)
n.772A>G
c.*309A>G (n.*309A>G)
c.*432A>G (n.*432A>G)
c.977A>G (p.Asn326Ser)
c.134A>G (p.Asn45Ser)
n.416A>G
n.405A>G
c.884A>G (p.Asn295Ser)
c.1112A>G (p.Asn371Ser)
c.1019A>G (p.Asn340Ser)
 gnomAD v4
Xg.19358993A>TCA412396234PDHA1c.998A>T (p.Asn333Ile)
c.*669A>T (n.*669A>T)
c.1061A>T (p.Asn354Ile)
c.1091A>T (p.Asn364Ile)
n.772A>T
c.*309A>T (n.*309A>T)
c.*432A>T (n.*432A>T)
c.977A>T (p.Asn326Ile)
c.134A>T (p.Asn45Ile)
n.416A>T
n.405A>T
c.884A>T (p.Asn295Ile)
c.1112A>T (p.Asn371Ile)
c.1019A>T (p.Asn340Ile)
Xg.19358993_19358996delinsACAGCA2418225249PDHA1c.998_1001delinsACAG (p.Asn333=)
c.*669_*672delinsACAG (n.*669_*672delinsACAG)
c.1061_1064delinsACAG (p.Asn354=)
c.1091_1094delinsACAG (p.Asn364=)
n.772_775delinsACAG
c.*309_*312delinsACAG (n.*309_*312delinsACAG)
c.*432_*435delinsACAG (n.*432_*435delinsACAG)
c.977_980delinsACAG (p.Asn326=)
c.134_137delinsACAG (p.Asn45=)
n.416_419delinsACAG
n.405_408delinsACAG
c.884_887delinsACAG (p.Asn295=)
c.1112_1115delinsACAG (p.Asn371=)
c.1019_1022delinsACAG (p.Asn340=)
Xg.19358997_19359030dupCA2573055207PDHA1c.1002_1029+6dup
c.*673_*700+6dup
c.1065_1092+6dup
c.1095_1122+6dup
n.776_803+6dup
c.*313_*340+6dup
c.*436_*463+6dup
c.981_1008+6dup
c.138_165+6dup
n.420_447+6dup
c.888_915+6dup
c.1116_1143+6dup
c.1023_1050+6dup
 ClinVar dbSNP
Xg.19358994C>ACA412396236PDHA1c.999C>A (p.Asn333Lys)
c.*670C>A (n.*670C>A)
c.1062C>A (p.Asn354Lys)
c.1092C>A (p.Asn364Lys)
n.773C>A
c.*310C>A (n.*310C>A)
c.*433C>A (n.*433C>A)
c.978C>A (p.Asn326Lys)
c.135C>A (p.Asn45Lys)
n.417C>A
n.406C>A
c.885C>A (p.Asn295Lys)
c.1113C>A (p.Asn371Lys)
c.1020C>A (p.Asn340Lys)
 gnomAD v4
Xg.19358994C=CA2418225250PDHA1c.999C= (p.Asn333=)
c.*670C= (n.*670C=)
c.1062C= (p.Asn354=)
c.1092C= (p.Asn364=)
n.773C=
c.*310C= (n.*310C=)
c.*433C= (n.*433C=)
c.978C= (p.Asn326=)
c.135C= (p.Asn45=)
n.417C=
n.406C=
c.885C= (p.Asn295=)
c.1113C= (p.Asn371=)
c.1020C= (p.Asn340=)
Xg.19358994C>GCA10363170PDHA1c.999C>G (p.Asn333Lys)
c.*670C>G (n.*670C>G)
c.1062C>G (p.Asn354Lys)
c.1092C>G (p.Asn364Lys)
n.773C>G
c.*310C>G (n.*310C>G)
c.*433C>G (n.*433C>G)
c.978C>G (p.Asn326Lys)
c.135C>G (p.Asn45Lys)
n.417C>G
n.406C>G
c.885C>G (p.Asn295Lys)
c.1113C>G (p.Asn371Lys)
c.1020C>G (p.Asn340Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19358994C>TCA10363171PDHA1c.999C>T (p.Asn333=)
c.*670C>T (n.*670C>T)
c.1062C>T (p.Asn354=)
c.1092C>T (p.Asn364=)
n.773C>T
c.*310C>T (n.*310C>T)
c.*433C>T (n.*433C>T)
c.978C>T (p.Asn326=)
c.135C>T (p.Asn45=)
n.417C>T
n.406C>T
c.885C>T (p.Asn295=)
c.1113C>T (p.Asn371=)
c.1020C>T (p.Asn340=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19358996_19358998delCA920400536PDHA1c.1001_1003del (p.Ser334del)
c.*672_*674del (n.*672_*674del)
c.1064_1066del (p.Ser355del)
c.1094_1096del (p.Ser365del)
n.775_777del
c.*312_*314del (n.*312_*314del)
c.*435_*437del (n.*435_*437del)
c.980_982del (p.Ser327del)
c.137_139del (p.Ser46del)
n.419_421del
n.408_410del
c.887_889del (p.Ser296del)
c.1115_1117del (p.Ser372del)
c.1022_1024del (p.Ser341del)
 dbSNP gnomAD v4
Xg.19358995A>CCA412396237PDHA1c.1000A>C (p.Ser334Arg)
c.*671A>C (n.*671A>C)
c.1063A>C (p.Ser355Arg)
c.1093A>C (p.Ser365Arg)
n.774A>C
c.*311A>C (n.*311A>C)
c.*434A>C (n.*434A>C)
c.979A>C (p.Ser327Arg)
c.136A>C (p.Ser46Arg)
n.418A>C
n.407A>C
c.886A>C (p.Ser296Arg)
c.1114A>C (p.Ser372Arg)
c.1021A>C (p.Ser341Arg)
Xg.19358995A>GCA412396238PDHA1c.1000A>G (p.Ser334Gly)
c.*671A>G (n.*671A>G)
c.1063A>G (p.Ser355Gly)
c.1093A>G (p.Ser365Gly)
n.774A>G
c.*311A>G (n.*311A>G)
c.*434A>G (n.*434A>G)
c.979A>G (p.Ser327Gly)
c.136A>G (p.Ser46Gly)
n.418A>G
n.407A>G
c.886A>G (p.Ser296Gly)
c.1114A>G (p.Ser372Gly)
c.1021A>G (p.Ser341Gly)
Xg.19358995A>TCA412396239PDHA1c.1000A>T (p.Ser334Cys)
c.*671A>T (n.*671A>T)
c.1063A>T (p.Ser355Cys)
c.1093A>T (p.Ser365Cys)
n.774A>T
c.*311A>T (n.*311A>T)
c.*434A>T (n.*434A>T)
c.979A>T (p.Ser327Cys)
c.136A>T (p.Ser46Cys)
n.418A>T
n.407A>T
c.886A>T (p.Ser296Cys)
c.1114A>T (p.Ser372Cys)
c.1021A>T (p.Ser341Cys)
Xg.19358996G>ACA412396240PDHA1c.1001G>A (p.Ser334Asn)
c.*672G>A (n.*672G>A)
c.1064G>A (p.Ser355Asn)
c.1094G>A (p.Ser365Asn)
n.775G>A
c.*312G>A (n.*312G>A)
c.*435G>A (n.*435G>A)
c.980G>A (p.Ser327Asn)
c.137G>A (p.Ser46Asn)
n.419G>A
n.408G>A
c.887G>A (p.Ser296Asn)
c.1115G>A (p.Ser372Asn)
c.1022G>A (p.Ser341Asn)
 gnomAD v4
Xg.19358996G>CCA412396241PDHA1c.1001G>C (p.Ser334Thr)
c.*672G>C (n.*672G>C)
c.1064G>C (p.Ser355Thr)
c.1094G>C (p.Ser365Thr)
n.775G>C
c.*312G>C (n.*312G>C)
c.*435G>C (n.*435G>C)
c.980G>C (p.Ser327Thr)
c.137G>C (p.Ser46Thr)
n.419G>C
n.408G>C
c.887G>C (p.Ser296Thr)
c.1115G>C (p.Ser372Thr)
c.1022G>C (p.Ser341Thr)
Xg.19358996G>TCA412396242PDHA1c.1001G>T (p.Ser334Ile)
c.*672G>T (n.*672G>T)
c.1064G>T (p.Ser355Ile)
c.1094G>T (p.Ser365Ile)
n.775G>T
c.*312G>T (n.*312G>T)
c.*435G>T (n.*435G>T)
c.980G>T (p.Ser327Ile)
c.137G>T (p.Ser46Ile)
n.419G>T
n.408G>T
c.887G>T (p.Ser296Ile)
c.1115G>T (p.Ser372Ile)
c.1022G>T (p.Ser341Ile)
Xg.19358997C>ACA412396243PDHA1c.1002C>A (p.Ser334Arg)
c.*673C>A (n.*673C>A)
c.1065C>A (p.Ser355Arg)
c.1095C>A (p.Ser365Arg)
n.776C>A
c.*313C>A (n.*313C>A)
c.*436C>A (n.*436C>A)
c.981C>A (p.Ser327Arg)
c.138C>A (p.Ser46Arg)
n.420C>A
n.409C>A
c.888C>A (p.Ser296Arg)
c.1116C>A (p.Ser372Arg)
c.1023C>A (p.Ser341Arg)
 gnomAD v3 gnomAD v4
Xg.19358997C>GCA412396244PDHA1c.1002C>G (p.Ser334Arg)
c.*673C>G (n.*673C>G)
c.1065C>G (p.Ser355Arg)
c.1095C>G (p.Ser365Arg)
n.776C>G
c.*313C>G (n.*313C>G)
c.*436C>G (n.*436C>G)
c.981C>G (p.Ser327Arg)
c.138C>G (p.Ser46Arg)
n.420C>G
n.409C>G
c.888C>G (p.Ser296Arg)
c.1116C>G (p.Ser372Arg)
c.1023C>G (p.Ser341Arg)
Xg.19358997C>TCA515486368PDHA1c.1002C>T (p.Ser334=)
c.*673C>T (n.*673C>T)
c.1065C>T (p.Ser355=)
c.1095C>T (p.Ser365=)
n.776C>T
c.*313C>T (n.*313C>T)
c.*436C>T (n.*436C>T)
c.981C>T (p.Ser327=)
c.138C>T (p.Ser46=)
n.420C>T
n.409C>T
c.888C>T (p.Ser296=)
c.1116C>T (p.Ser372=)
c.1023C>T (p.Ser341=)
 gnomAD v4
Xg.19358998_19359001dupCA2695231660PDHA1c.1003_1006dup (p.Leu336GlnfsTer12)
c.*674_*677dup (n.*674_*677dup)
c.1066_1069dup (p.Leu357GlnfsTer12)
c.1096_1099dup (p.Leu367GlnfsTer12)
n.777_780dup
c.*314_*317dup (n.*314_*317dup)
c.*437_*440dup (n.*437_*440dup)
c.982_985dup (p.Leu329GlnfsTer12)
c.139_142dup (p.Leu48GlnfsTer12)
n.421_424dup
n.410_413dup
c.889_892dup (p.Leu298GlnfsTer12)
c.1117_1120dup (p.Leu374GlnfsTer12)
c.1024_1027dup (p.Leu343GlnfsTer12)
Xg.19358998A>CCA412396247PDHA1c.1003A>C (p.Asn335His)
c.*674A>C (n.*674A>C)
c.1066A>C (p.Asn356His)
c.1096A>C (p.Asn366His)
n.777A>C
c.*314A>C (n.*314A>C)
c.*437A>C (n.*437A>C)
c.982A>C (p.Asn328His)
c.139A>C (p.Asn47His)
n.421A>C
n.410A>C
c.889A>C (p.Asn297His)
c.1117A>C (p.Asn373His)
c.1024A>C (p.Asn342His)
Xg.19358998A>GCA412396246PDHA1c.1003A>G (p.Asn335Asp)
c.*674A>G (n.*674A>G)
c.1066A>G (p.Asn356Asp)
c.1096A>G (p.Asn366Asp)
n.777A>G
c.*314A>G (n.*314A>G)
c.*437A>G (n.*437A>G)
c.982A>G (p.Asn328Asp)
c.139A>G (p.Asn47Asp)
n.421A>G
n.410A>G
c.889A>G (p.Asn297Asp)
c.1117A>G (p.Asn373Asp)
c.1024A>G (p.Asn342Asp)
Xg.19358998A>TCA412396245PDHA1c.1003A>T (p.Asn335Tyr)
c.*674A>T (n.*674A>T)
c.1066A>T (p.Asn356Tyr)
c.1096A>T (p.Asn366Tyr)
n.777A>T
c.*314A>T (n.*314A>T)
c.*437A>T (n.*437A>T)
c.982A>T (p.Asn328Tyr)
c.139A>T (p.Asn47Tyr)
n.421A>T
n.410A>T
c.889A>T (p.Asn297Tyr)
c.1117A>T (p.Asn373Tyr)
c.1024A>T (p.Asn342Tyr)
Xg.19358999A=CA2418225251PDHA1c.1004A= (p.Asn335=)
c.*675A= (n.*675A=)
c.1067A= (p.Asn356=)
c.1097A= (p.Asn366=)
n.778A=
c.*315A= (n.*315A=)
c.*438A= (n.*438A=)
c.983A= (p.Asn328=)
c.140A= (p.Asn47=)
n.422A=
n.411A=
c.890A= (p.Asn297=)
c.1118A= (p.Asn373=)
c.1025A= (p.Asn342=)
Xg.19358999A>CCA412396248PDHA1c.1004A>C (p.Asn335Thr)
c.*675A>C (n.*675A>C)
c.1067A>C (p.Asn356Thr)
c.1097A>C (p.Asn366Thr)
n.778A>C
c.*315A>C (n.*315A>C)
c.*438A>C (n.*438A>C)
c.983A>C (p.Asn328Thr)
c.140A>C (p.Asn47Thr)
n.422A>C
n.411A>C
c.890A>C (p.Asn297Thr)
c.1118A>C (p.Asn373Thr)
c.1025A>C (p.Asn342Thr)
Xg.19358999A>GCA10363172PDHA1c.1004A>G (p.Asn335Ser)
c.*675A>G (n.*675A>G)
c.1067A>G (p.Asn356Ser)
c.1097A>G (p.Asn366Ser)
n.778A>G
c.*315A>G (n.*315A>G)
c.*438A>G (n.*438A>G)
c.983A>G (p.Asn328Ser)
c.140A>G (p.Asn47Ser)
n.422A>G
n.411A>G
c.890A>G (p.Asn297Ser)
c.1118A>G (p.Asn373Ser)
c.1025A>G (p.Asn342Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.19358999A>TCA412396249PDHA1c.1004A>T (p.Asn335Ile)
c.*675A>T (n.*675A>T)
c.1067A>T (p.Asn356Ile)
c.1097A>T (p.Asn366Ile)
n.778A>T
c.*315A>T (n.*315A>T)
c.*438A>T (n.*438A>T)
c.983A>T (p.Asn328Ile)
c.140A>T (p.Asn47Ile)
n.422A>T
n.411A>T
c.890A>T (p.Asn297Ile)
c.1118A>T (p.Asn373Ile)
c.1025A>T (p.Asn342Ile)
Xg.19359000T>ACA412396250PDHA1c.1005T>A (p.Asn335Lys)
c.*676T>A (n.*676T>A)
c.1068T>A (p.Asn356Lys)
c.1098T>A (p.Asn366Lys)
n.779T>A
c.*316T>A (n.*316T>A)
c.*439T>A (n.*439T>A)
c.984T>A (p.Asn328Lys)
c.141T>A (p.Asn47Lys)
n.423T>A
n.412T>A
c.891T>A (p.Asn297Lys)
c.1119T>A (p.Asn373Lys)
c.1026T>A (p.Asn342Lys)
Xg.19359000T>CCA208258PDHA1c.1005T>C (p.Asn335=)
c.*676T>C (n.*676T>C)
c.1068T>C (p.Asn356=)
c.1098T>C (p.Asn366=)
n.779T>C
c.*316T>C (n.*316T>C)
c.*439T>C (n.*439T>C)
c.984T>C (p.Asn328=)
c.141T>C (p.Asn47=)
n.423T>C
n.412T>C
c.891T>C (p.Asn297=)
c.1119T>C (p.Asn373=)
c.1026T>C (p.Asn342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359000T>GCA412396251PDHA1c.1005T>G (p.Asn335Lys)
c.*676T>G (n.*676T>G)
c.1068T>G (p.Asn356Lys)
c.1098T>G (p.Asn366Lys)
n.779T>G
c.*316T>G (n.*316T>G)
c.*439T>G (n.*439T>G)
c.984T>G (p.Asn328Lys)
c.141T>G (p.Asn47Lys)
n.423T>G
n.412T>G
c.891T>G (p.Asn297Lys)
c.1119T>G (p.Asn373Lys)
c.1026T>G (p.Asn342Lys)
Xg.19359000T=CA2418225252PDHA1c.1005T= (p.Asn335=)
c.*676T= (n.*676T=)
c.1068T= (p.Asn356=)
c.1098T= (p.Asn366=)
n.779T=
c.*316T= (n.*316T=)
c.*439T= (n.*439T=)
c.984T= (p.Asn328=)
c.141T= (p.Asn47=)
n.423T=
n.412T=
c.891T= (p.Asn297=)
c.1119T= (p.Asn373=)
c.1026T= (p.Asn342=)
Xg.19359001C>ACA412396252PDHA1c.1006C>A (p.Leu336Ile)
c.*677C>A (n.*677C>A)
c.1069C>A (p.Leu357Ile)
c.1099C>A (p.Leu367Ile)
n.780C>A
c.*317C>A (n.*317C>A)
c.*440C>A (n.*440C>A)
c.985C>A (p.Leu329Ile)
c.142C>A (p.Leu48Ile)
n.424C>A
n.413C>A
c.892C>A (p.Leu298Ile)
c.1120C>A (p.Leu374Ile)
c.1027C>A (p.Leu343Ile)
 gnomAD v4
Xg.19359001C>GCA412396253PDHA1c.1006C>G (p.Leu336Val)
c.*677C>G (n.*677C>G)
c.1069C>G (p.Leu357Val)
c.1099C>G (p.Leu367Val)
n.780C>G
c.*317C>G (n.*317C>G)
c.*440C>G (n.*440C>G)
c.985C>G (p.Leu329Val)
c.142C>G (p.Leu48Val)
n.424C>G
n.413C>G
c.892C>G (p.Leu298Val)
c.1120C>G (p.Leu374Val)
c.1027C>G (p.Leu343Val)
Xg.19359001C>TCA412396254PDHA1c.1006C>T (p.Leu336Phe)
c.*677C>T (n.*677C>T)
c.1069C>T (p.Leu357Phe)
c.1099C>T (p.Leu367Phe)
n.780C>T
c.*317C>T (n.*317C>T)
c.*440C>T (n.*440C>T)
c.985C>T (p.Leu329Phe)
c.142C>T (p.Leu48Phe)
n.424C>T
n.413C>T
c.892C>T (p.Leu298Phe)
c.1120C>T (p.Leu374Phe)
c.1027C>T (p.Leu343Phe)
 COSMIC
Xg.19359001_19359014dupCA324481PDHA1c.1006_1019dup (p.Glu340AspfsTer8)
c.*677_*690dup (n.*677_*690dup)
c.1069_1082dup (p.Glu361AspfsTer8)
c.1099_1112dup (p.Glu371AspfsTer8)
n.780_793dup
c.*317_*330dup (n.*317_*330dup)
c.*440_*453dup (n.*440_*453dup)
c.985_998dup (p.Glu333AspfsTer8)
c.142_155dup (p.Glu52AspfsTer8)
n.424_437dup
n.413_426dup
c.892_905dup (p.Glu302AspfsTer8)
c.1120_1133dup (p.Glu378AspfsTer8)
c.1027_1040dup (p.Glu347AspfsTer8)
 ClinVar dbSNP
Xg.19359002T>ACA412396255PDHA1c.1007T>A (p.Leu336His)
c.*678T>A (n.*678T>A)
c.1070T>A (p.Leu357His)
c.1100T>A (p.Leu367His)
n.781T>A
c.*318T>A (n.*318T>A)
c.*441T>A (n.*441T>A)
c.986T>A (p.Leu329His)
c.143T>A (p.Leu48His)
n.425T>A
n.414T>A
c.893T>A (p.Leu298His)
c.1121T>A (p.Leu374His)
c.1028T>A (p.Leu343His)
Xg.19359002T>CCA412396256PDHA1c.1007T>C (p.Leu336Pro)
c.*678T>C (n.*678T>C)
c.1070T>C (p.Leu357Pro)
c.1100T>C (p.Leu367Pro)
n.781T>C
c.*318T>C (n.*318T>C)
c.*441T>C (n.*441T>C)
c.986T>C (p.Leu329Pro)
c.143T>C (p.Leu48Pro)
n.425T>C
n.414T>C
c.893T>C (p.Leu298Pro)
c.1121T>C (p.Leu374Pro)
c.1028T>C (p.Leu343Pro)
 gnomAD v4
Xg.19359002T>GCA412396257PDHA1c.1007T>G (p.Leu336Arg)
c.*678T>G (n.*678T>G)
c.1070T>G (p.Leu357Arg)
c.1100T>G (p.Leu367Arg)
n.781T>G
c.*318T>G (n.*318T>G)
c.*441T>G (n.*441T>G)
c.986T>G (p.Leu329Arg)
c.143T>G (p.Leu48Arg)
n.425T>G
n.414T>G
c.893T>G (p.Leu298Arg)
c.1121T>G (p.Leu374Arg)
c.1028T>G (p.Leu343Arg)
Xg.19359002_19359014dupCA2695231661PDHA1c.1007_1019dup (p.Glu340AspfsTer11)
c.*678_*690dup (n.*678_*690dup)
c.1070_1082dup (p.Glu361AspfsTer11)
c.1100_1112dup (p.Glu371AspfsTer11)
n.781_793dup
c.*318_*330dup (n.*318_*330dup)
c.*441_*453dup (n.*441_*453dup)
c.986_998dup (p.Glu333AspfsTer11)
c.143_155dup (p.Glu52AspfsTer11)
n.425_437dup
n.414_426dup
c.893_905dup (p.Glu302AspfsTer11)
c.1121_1133dup (p.Glu378AspfsTer11)
c.1028_1040dup (p.Glu347AspfsTer11)
Xg.19359003T>ACA515486372PDHA1c.1008T>A (p.Leu336=)
c.*679T>A (n.*679T>A)
c.1071T>A (p.Leu357=)
c.1101T>A (p.Leu367=)
n.782T>A
c.*319T>A (n.*319T>A)
c.*442T>A (n.*442T>A)
c.987T>A (p.Leu329=)
c.144T>A (p.Leu48=)
n.426T>A
n.415T>A
c.894T>A (p.Leu298=)
c.1122T>A (p.Leu374=)
c.1029T>A (p.Leu343=)
Xg.19359003T>CCA515486373PDHA1c.1008T>C (p.Leu336=)
c.*679T>C (n.*679T>C)
c.1071T>C (p.Leu357=)
c.1101T>C (p.Leu367=)
n.782T>C
c.*319T>C (n.*319T>C)
c.*442T>C (n.*442T>C)
c.987T>C (p.Leu329=)
c.144T>C (p.Leu48=)
n.426T>C
n.415T>C
c.894T>C (p.Leu298=)
c.1122T>C (p.Leu374=)
c.1029T>C (p.Leu343=)
Xg.19359003T>GCA515486374PDHA1c.1008T>G (p.Leu336=)
c.*679T>G (n.*679T>G)
c.1071T>G (p.Leu357=)
c.1101T>G (p.Leu367=)
n.782T>G
c.*319T>G (n.*319T>G)
c.*442T>G (n.*442T>G)
c.987T>G (p.Leu329=)
c.144T>G (p.Leu48=)
n.426T>G
n.415T>G
c.894T>G (p.Leu298=)
c.1122T>G (p.Leu374=)
c.1029T>G (p.Leu343=)
Xg.19359004G>ACA412396260PDHA1c.1009G>A (p.Ala337Thr)
c.*680G>A (n.*680G>A)
c.1072G>A (p.Ala358Thr)
c.1102G>A (p.Ala368Thr)
n.783G>A
c.*320G>A (n.*320G>A)
c.*443G>A (n.*443G>A)
c.988G>A (p.Ala330Thr)
c.145G>A (p.Ala49Thr)
n.427G>A
n.416G>A
c.895G>A (p.Ala299Thr)
c.1123G>A (p.Ala375Thr)
c.1030G>A (p.Ala344Thr)
Xg.19359004G>CCA412396258PDHA1c.1009G>C (p.Ala337Pro)
c.*680G>C (n.*680G>C)
c.1072G>C (p.Ala358Pro)
c.1102G>C (p.Ala368Pro)
n.783G>C
c.*320G>C (n.*320G>C)
c.*443G>C (n.*443G>C)
c.988G>C (p.Ala330Pro)
c.145G>C (p.Ala49Pro)
n.427G>C
n.416G>C
c.895G>C (p.Ala299Pro)
c.1123G>C (p.Ala375Pro)
c.1030G>C (p.Ala344Pro)
Xg.19359004G>TCA412396259PDHA1c.1009G>T (p.Ala337Ser)
c.*680G>T (n.*680G>T)
c.1072G>T (p.Ala358Ser)
c.1102G>T (p.Ala368Ser)
n.783G>T
c.*320G>T (n.*320G>T)
c.*443G>T (n.*443G>T)
c.988G>T (p.Ala330Ser)
c.145G>T (p.Ala49Ser)
n.427G>T
n.416G>T
c.895G>T (p.Ala299Ser)
c.1123G>T (p.Ala375Ser)
c.1030G>T (p.Ala344Ser)
Xg.19359005C>ACA412396261PDHA1c.1010C>A (p.Ala337Asp)
c.*681C>A (n.*681C>A)
c.1073C>A (p.Ala358Asp)
c.1103C>A (p.Ala368Asp)
n.784C>A
c.*321C>A (n.*321C>A)
c.*444C>A (n.*444C>A)
c.989C>A (p.Ala330Asp)
c.146C>A (p.Ala49Asp)
n.428C>A
n.417C>A
c.896C>A (p.Ala299Asp)
c.1124C>A (p.Ala375Asp)
c.1031C>A (p.Ala344Asp)
 gnomAD v4
Xg.19359005C=CA2418225253PDHA1c.1010C= (p.Ala337=)
c.*681C= (n.*681C=)
c.1073C= (p.Ala358=)
c.1103C= (p.Ala368=)
n.784C=
c.*321C= (n.*321C=)
c.*444C= (n.*444C=)
c.989C= (p.Ala330=)
c.146C= (p.Ala49=)
n.428C=
n.417C=
c.896C= (p.Ala299=)
c.1124C= (p.Ala375=)
c.1031C= (p.Ala344=)
Xg.19359005C>GCA412396262PDHA1c.1010C>G (p.Ala337Gly)
c.*681C>G (n.*681C>G)
c.1073C>G (p.Ala358Gly)
c.1103C>G (p.Ala368Gly)
n.784C>G
c.*321C>G (n.*321C>G)
c.*444C>G (n.*444C>G)
c.989C>G (p.Ala330Gly)
c.146C>G (p.Ala49Gly)
n.428C>G
n.417C>G
c.896C>G (p.Ala299Gly)
c.1124C>G (p.Ala375Gly)
c.1031C>G (p.Ala344Gly)
 ClinVar dbSNP gnomAD v4
Xg.19359005C>TCA412396263PDHA1c.1010C>T (p.Ala337Val)
c.*681C>T (n.*681C>T)
c.1073C>T (p.Ala358Val)
c.1103C>T (p.Ala368Val)
n.784C>T
c.*321C>T (n.*321C>T)
c.*444C>T (n.*444C>T)
c.989C>T (p.Ala330Val)
c.146C>T (p.Ala49Val)
n.428C>T
n.417C>T
c.896C>T (p.Ala299Val)
c.1124C>T (p.Ala375Val)
c.1031C>T (p.Ala344Val)
 gnomAD v4
Xg.19359006C>ACA515486379PDHA1c.1011C>A (p.Ala337=)
c.*682C>A (n.*682C>A)
c.1074C>A (p.Ala358=)
c.1104C>A (p.Ala368=)
n.785C>A
c.*322C>A (n.*322C>A)
c.*445C>A (n.*445C>A)
c.990C>A (p.Ala330=)
c.147C>A (p.Ala49=)
n.429C>A
n.418C>A
c.897C>A (p.Ala299=)
c.1125C>A (p.Ala375=)
c.1032C>A (p.Ala344=)
 dbSNP gnomAD v4
Xg.19359006C=CA2418225254PDHA1c.1011C= (p.Ala337=)
c.*682C= (n.*682C=)
c.1074C= (p.Ala358=)
c.1104C= (p.Ala368=)
n.785C=
c.*322C= (n.*322C=)
c.*445C= (n.*445C=)
c.990C= (p.Ala330=)
c.147C= (p.Ala49=)
n.429C=
n.418C=
c.897C= (p.Ala299=)
c.1125C= (p.Ala375=)
c.1032C= (p.Ala344=)
Xg.19359006C>GCA515486380PDHA1c.1011C>G (p.Ala337=)
c.*682C>G (n.*682C>G)
c.1074C>G (p.Ala358=)
c.1104C>G (p.Ala368=)
n.785C>G
c.*322C>G (n.*322C>G)
c.*445C>G (n.*445C>G)
c.990C>G (p.Ala330=)
c.147C>G (p.Ala49=)
n.429C>G
n.418C>G
c.897C>G (p.Ala299=)
c.1125C>G (p.Ala375=)
c.1032C>G (p.Ala344=)
Xg.19359006C>TCA515486381PDHA1c.1011C>T (p.Ala337=)
c.*682C>T (n.*682C>T)
c.1074C>T (p.Ala358=)
c.1104C>T (p.Ala368=)
n.785C>T
c.*322C>T (n.*322C>T)
c.*445C>T (n.*445C>T)
c.990C>T (p.Ala330=)
c.147C>T (p.Ala49=)
n.429C>T
n.418C>T
c.897C>T (p.Ala299=)
c.1125C>T (p.Ala375=)
c.1032C>T (p.Ala344=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19359007_19359019dupCA2580100429PDHA1c.1012_1024dup (p.Leu342GlnfsTer9)
c.*683_*695dup (n.*683_*695dup)
c.1075_1087dup (p.Leu363GlnfsTer9)
c.1105_1117dup (p.Leu373GlnfsTer9)
n.786_798dup
c.*323_*335dup (n.*323_*335dup)
c.*446_*458dup (n.*446_*458dup)
c.991_1003dup (p.Leu335GlnfsTer9)
c.148_160dup (p.Leu54GlnfsTer9)
n.430_442dup
n.419_431dup
c.898_910dup (p.Leu304GlnfsTer9)
c.1126_1138dup (p.Leu380GlnfsTer9)
c.1033_1045dup (p.Leu349GlnfsTer9)
 ClinVar
Xg.19359007A>CCA412396264PDHA1c.1012A>C (p.Ser338Arg)
c.*683A>C (n.*683A>C)
c.1075A>C (p.Ser359Arg)
c.1105A>C (p.Ser369Arg)
n.786A>C
c.*323A>C (n.*323A>C)
c.*446A>C (n.*446A>C)
c.991A>C (p.Ser331Arg)
c.148A>C (p.Ser50Arg)
n.430A>C
n.419A>C
c.898A>C (p.Ser300Arg)
c.1126A>C (p.Ser376Arg)
c.1033A>C (p.Ser345Arg)
Xg.19359007A>GCA412396265PDHA1c.1012A>G (p.Ser338Gly)
c.*683A>G (n.*683A>G)
c.1075A>G (p.Ser359Gly)
c.1105A>G (p.Ser369Gly)
n.786A>G
c.*323A>G (n.*323A>G)
c.*446A>G (n.*446A>G)
c.991A>G (p.Ser331Gly)
c.148A>G (p.Ser50Gly)
n.430A>G
n.419A>G
c.898A>G (p.Ser300Gly)
c.1126A>G (p.Ser376Gly)
c.1033A>G (p.Ser345Gly)
Xg.19359007A>TCA412396266PDHA1c.1012A>T (p.Ser338Cys)
c.*683A>T (n.*683A>T)
c.1075A>T (p.Ser359Cys)
c.1105A>T (p.Ser369Cys)
n.786A>T
c.*323A>T (n.*323A>T)
c.*446A>T (n.*446A>T)
c.991A>T (p.Ser331Cys)
c.148A>T (p.Ser50Cys)
n.430A>T
n.419A>T
c.898A>T (p.Ser300Cys)
c.1126A>T (p.Ser376Cys)
c.1033A>T (p.Ser345Cys)
Xg.19359008G>ACA412396267PDHA1c.1013G>A (p.Ser338Asn)
c.*684G>A (n.*684G>A)
c.1076G>A (p.Ser359Asn)
c.1106G>A (p.Ser369Asn)
n.787G>A
c.*324G>A (n.*324G>A)
c.*447G>A (n.*447G>A)
c.992G>A (p.Ser331Asn)
c.149G>A (p.Ser50Asn)
n.431G>A
n.420G>A
c.899G>A (p.Ser300Asn)
c.1127G>A (p.Ser376Asn)
c.1034G>A (p.Ser345Asn)
 gnomAD v4
Xg.19359008G>CCA412396268PDHA1c.1013G>C (p.Ser338Thr)
c.*684G>C (n.*684G>C)
c.1076G>C (p.Ser359Thr)
c.1106G>C (p.Ser369Thr)
n.787G>C
c.*324G>C (n.*324G>C)
c.*447G>C (n.*447G>C)
c.992G>C (p.Ser331Thr)
c.149G>C (p.Ser50Thr)
n.431G>C
n.420G>C
c.899G>C (p.Ser300Thr)
c.1127G>C (p.Ser376Thr)
c.1034G>C (p.Ser345Thr)
Xg.19359008G>TCA412396269PDHA1c.1013G>T (p.Ser338Ile)
c.*684G>T (n.*684G>T)
c.1076G>T (p.Ser359Ile)
c.1106G>T (p.Ser369Ile)
n.787G>T
c.*324G>T (n.*324G>T)
c.*447G>T (n.*447G>T)
c.992G>T (p.Ser331Ile)
c.149G>T (p.Ser50Ile)
n.431G>T
n.420G>T
c.899G>T (p.Ser300Ile)
c.1127G>T (p.Ser376Ile)
c.1034G>T (p.Ser345Ile)
 ClinVar dbSNP
Xg.19359009T>ACA412396270PDHA1c.1014T>A (p.Ser338Arg)
c.*685T>A (n.*685T>A)
c.1077T>A (p.Ser359Arg)
c.1107T>A (p.Ser369Arg)
n.788T>A
c.*325T>A (n.*325T>A)
c.*448T>A (n.*448T>A)
c.993T>A (p.Ser331Arg)
c.150T>A (p.Ser50Arg)
n.432T>A
n.421T>A
c.900T>A (p.Ser300Arg)
c.1128T>A (p.Ser376Arg)
c.1035T>A (p.Ser345Arg)
Xg.19359009T>CCA515486383PDHA1c.1014T>C (p.Ser338=)
c.*685T>C (n.*685T>C)
c.1077T>C (p.Ser359=)
c.1107T>C (p.Ser369=)
n.788T>C
c.*325T>C (n.*325T>C)
c.*448T>C (n.*448T>C)
c.993T>C (p.Ser331=)
c.150T>C (p.Ser50=)
n.432T>C
n.421T>C
c.900T>C (p.Ser300=)
c.1128T>C (p.Ser376=)
c.1035T>C (p.Ser345=)
Xg.19359009T>GCA412396271PDHA1c.1014T>G (p.Ser338Arg)
c.*685T>G (n.*685T>G)
c.1077T>G (p.Ser359Arg)
c.1107T>G (p.Ser369Arg)
n.788T>G
c.*325T>G (n.*325T>G)
c.*448T>G (n.*448T>G)
c.993T>G (p.Ser331Arg)
c.150T>G (p.Ser50Arg)
n.432T>G
n.421T>G
c.900T>G (p.Ser300Arg)
c.1128T>G (p.Ser376Arg)
c.1035T>G (p.Ser345Arg)
Xg.19359010G>ACA412396272PDHA1c.1015G>A (p.Val339Met)
c.*686G>A (n.*686G>A)
c.1078G>A (p.Val360Met)
c.1108G>A (p.Val370Met)
n.789G>A
c.*326G>A (n.*326G>A)
c.*449G>A (n.*449G>A)
c.994G>A (p.Val332Met)
c.151G>A (p.Val51Met)
n.433G>A
n.422G>A
c.901G>A (p.Val301Met)
c.1129G>A (p.Val377Met)
c.1036G>A (p.Val346Met)
 gnomAD v4
Xg.19359010G>CCA412396274PDHA1c.1015G>C (p.Val339Leu)
c.*686G>C (n.*686G>C)
c.1078G>C (p.Val360Leu)
c.1108G>C (p.Val370Leu)
n.789G>C
c.*326G>C (n.*326G>C)
c.*449G>C (n.*449G>C)
c.994G>C (p.Val332Leu)
c.151G>C (p.Val51Leu)
n.433G>C
n.422G>C
c.901G>C (p.Val301Leu)
c.1129G>C (p.Val377Leu)
c.1036G>C (p.Val346Leu)
Xg.19359010G=CA2418225255PDHA1c.1015G= (p.Val339=)
c.*686G= (n.*686G=)
c.1078G= (p.Val360=)
c.1108G= (p.Val370=)
n.789G=
c.*326G= (n.*326G=)
c.*449G= (n.*449G=)
c.994G= (p.Val332=)
c.151G= (p.Val51=)
n.433G=
n.422G=
c.901G= (p.Val301=)
c.1129G= (p.Val377=)
c.1036G= (p.Val346=)
Xg.19359010G>TCA412396273PDHA1c.1015G>T (p.Val339Leu)
c.*686G>T (n.*686G>T)
c.1078G>T (p.Val360Leu)
c.1108G>T (p.Val370Leu)
n.789G>T
c.*326G>T (n.*326G>T)
c.*449G>T (n.*449G>T)
c.994G>T (p.Val332Leu)
c.151G>T (p.Val51Leu)
n.433G>T
n.422G>T
c.901G>T (p.Val301Leu)
c.1129G>T (p.Val377Leu)
c.1036G>T (p.Val346Leu)
Xg.19359011T>ACA412396275PDHA1c.1016T>A (p.Val339Glu)
c.*687T>A (n.*687T>A)
c.1079T>A (p.Val360Glu)
c.1109T>A (p.Val370Glu)
n.790T>A
c.*327T>A (n.*327T>A)
c.*450T>A (n.*450T>A)
c.995T>A (p.Val332Glu)
c.152T>A (p.Val51Glu)
n.434T>A
n.423T>A
c.902T>A (p.Val301Glu)
c.1130T>A (p.Val377Glu)
c.1037T>A (p.Val346Glu)
Xg.19359011T>CCA412396277PDHA1c.1016T>C (p.Val339Ala)
c.*687T>C (n.*687T>C)
c.1079T>C (p.Val360Ala)
c.1109T>C (p.Val370Ala)
n.790T>C
c.*327T>C (n.*327T>C)
c.*450T>C (n.*450T>C)
c.995T>C (p.Val332Ala)
c.152T>C (p.Val51Ala)
n.434T>C
n.423T>C
c.902T>C (p.Val301Ala)
c.1130T>C (p.Val377Ala)
c.1037T>C (p.Val346Ala)
Xg.19359011T>GCA412396276PDHA1c.1016T>G (p.Val339Gly)
c.*687T>G (n.*687T>G)
c.1079T>G (p.Val360Gly)
c.1109T>G (p.Val370Gly)
n.790T>G
c.*327T>G (n.*327T>G)
c.*450T>G (n.*450T>G)
c.995T>G (p.Val332Gly)
c.152T>G (p.Val51Gly)
n.434T>G
n.423T>G
c.902T>G (p.Val301Gly)
c.1130T>G (p.Val377Gly)
c.1037T>G (p.Val346Gly)
Xg.19359014_19359044dupCA1139667329PDHA1c.1019_1029+20dup
c.*690_*700+20dup
c.1082_1092+20dup
c.1112_1122+20dup
n.793_803+20dup
c.*330_*340+20dup
c.*453_*463+20dup
c.998_1008+20dup
c.155_165+20dup
n.437_447+20dup
c.905_915+20dup
c.1133_1143+20dup
c.1040_1050+20dup
 ClinVar dbSNP
Xg.19359012G>ACA515486385PDHA1c.1017G>A (p.Val339=)
c.*688G>A (n.*688G>A)
c.1080G>A (p.Val360=)
c.1110G>A (p.Val370=)
n.791G>A
c.*328G>A (n.*328G>A)
c.*451G>A (n.*451G>A)
c.996G>A (p.Val332=)
c.153G>A (p.Val51=)
n.435G>A
n.424G>A
c.903G>A (p.Val301=)
c.1131G>A (p.Val377=)
c.1038G>A (p.Val346=)
 gnomAD v4
Xg.19359012G>CCA515486386PDHA1c.1017G>C (p.Val339=)
c.*688G>C (n.*688G>C)
c.1080G>C (p.Val360=)
c.1110G>C (p.Val370=)
n.791G>C
c.*328G>C (n.*328G>C)
c.*451G>C (n.*451G>C)
c.996G>C (p.Val332=)
c.153G>C (p.Val51=)
n.435G>C
n.424G>C
c.903G>C (p.Val301=)
c.1131G>C (p.Val377=)
c.1038G>C (p.Val346=)
Xg.19359012G=CA2418225256PDHA1c.1017G= (p.Val339=)
c.*688G= (n.*688G=)
c.1080G= (p.Val360=)
c.1110G= (p.Val370=)
n.791G=
c.*328G= (n.*328G=)
c.*451G= (n.*451G=)
c.996G= (p.Val332=)
c.153G= (p.Val51=)
n.435G=
n.424G=
c.903G= (p.Val301=)
c.1131G= (p.Val377=)
c.1038G= (p.Val346=)
Xg.19359012G>TCA515486387PDHA1c.1017G>T (p.Val339=)
c.*688G>T (n.*688G>T)
c.1080G>T (p.Val360=)
c.1110G>T (p.Val370=)
n.791G>T
c.*328G>T (n.*328G>T)
c.*451G>T (n.*451G>T)
c.996G>T (p.Val332=)
c.153G>T (p.Val51=)
n.435G>T
n.424G>T
c.903G>T (p.Val301=)
c.1131G>T (p.Val377=)
c.1038G>T (p.Val346=)
 dbSNP
Xg.19359013delCA2693251101PDHA1c.1018del (p.Glu340LysfsTer3)
c.*689del (n.*689del)
c.1081del (p.Glu361LysfsTer3)
c.1111del (p.Glu371LysfsTer3)
n.792del
c.*329del (n.*329del)
c.*452del (n.*452del)
c.997del (p.Glu333LysfsTer3)
c.154del (p.Glu52LysfsTer3)
n.436del
n.425del
c.904del (p.Glu302LysfsTer3)
c.1132del (p.Glu378LysfsTer3)
c.1039del (p.Glu347LysfsTer3)
 gnomAD v4
Xg.19359013G>ACA412396278PDHA1c.1018G>A (p.Glu340Lys)
c.*689G>A (n.*689G>A)
c.1081G>A (p.Glu361Lys)
c.1111G>A (p.Glu371Lys)
n.792G>A
c.*329G>A (n.*329G>A)
c.*452G>A (n.*452G>A)
c.997G>A (p.Glu333Lys)
c.154G>A (p.Glu52Lys)
n.436G>A
n.425G>A
c.904G>A (p.Glu302Lys)
c.1132G>A (p.Glu378Lys)
c.1039G>A (p.Glu347Lys)
 gnomAD v4
Xg.19359013G>CCA412396280PDHA1c.1018G>C (p.Glu340Gln)
c.*689G>C (n.*689G>C)
c.1081G>C (p.Glu361Gln)
c.1111G>C (p.Glu371Gln)
n.792G>C
c.*329G>C (n.*329G>C)
c.*452G>C (n.*452G>C)
c.997G>C (p.Glu333Gln)
c.154G>C (p.Glu52Gln)
n.436G>C
n.425G>C
c.904G>C (p.Glu302Gln)
c.1132G>C (p.Glu378Gln)
c.1039G>C (p.Glu347Gln)
Xg.19359013G>TCA412396279PDHA1c.1018G>T (p.Glu340Ter)
c.*689G>T (n.*689G>T)
c.1081G>T (p.Glu361Ter)
c.1111G>T (p.Glu371Ter)
n.792G>T
c.*329G>T (n.*329G>T)
c.*452G>T (n.*452G>T)
c.997G>T (p.Glu333Ter)
c.154G>T (p.Glu52Ter)
n.436G>T
n.425G>T
c.904G>T (p.Glu302Ter)
c.1132G>T (p.Glu378Ter)
c.1039G>T (p.Glu347Ter)
Xg.19359016_19359018delCA2695231662PDHA1c.1021_1023del (p.Glu341del)
c.*692_*694del (n.*692_*694del)
c.1084_1086del (p.Glu362del)
c.1114_1116del (p.Glu372del)
n.795_797del
c.*332_*334del (n.*332_*334del)
c.*455_*457del (n.*455_*457del)
c.1000_1002del (p.Glu334del)
c.157_159del (p.Glu53del)
n.439_441del
n.428_430del
c.907_909del (p.Glu303del)
c.1135_1137del (p.Glu379del)
c.1042_1044del (p.Glu348del)
Xg.19359014A>CCA412396281PDHA1c.1019A>C (p.Glu340Ala)
c.*690A>C (n.*690A>C)
c.1082A>C (p.Glu361Ala)
c.1112A>C (p.Glu371Ala)
n.793A>C
c.*330A>C (n.*330A>C)
c.*453A>C (n.*453A>C)
c.998A>C (p.Glu333Ala)
c.155A>C (p.Glu52Ala)
n.437A>C
n.426A>C
c.905A>C (p.Glu302Ala)
c.1133A>C (p.Glu378Ala)
c.1040A>C (p.Glu347Ala)
Xg.19359014A>GCA412396283PDHA1c.1019A>G (p.Glu340Gly)
c.*690A>G (n.*690A>G)
c.1082A>G (p.Glu361Gly)
c.1112A>G (p.Glu371Gly)
n.793A>G
c.*330A>G (n.*330A>G)
c.*453A>G (n.*453A>G)
c.998A>G (p.Glu333Gly)
c.155A>G (p.Glu52Gly)
n.437A>G
n.426A>G
c.905A>G (p.Glu302Gly)
c.1133A>G (p.Glu378Gly)
c.1040A>G (p.Glu347Gly)
Xg.19359014A>TCA412396282PDHA1c.1019A>T (p.Glu340Val)
c.*690A>T (n.*690A>T)
c.1082A>T (p.Glu361Val)
c.1112A>T (p.Glu371Val)
n.793A>T
c.*330A>T (n.*330A>T)
c.*453A>T (n.*453A>T)
c.998A>T (p.Glu333Val)
c.155A>T (p.Glu52Val)
n.437A>T
n.426A>T
c.905A>T (p.Glu302Val)
c.1133A>T (p.Glu378Val)
c.1040A>T (p.Glu347Val)
Xg.19359015_19359018dupCA515486389PDHA1c.1020_1023dup (p.Leu342ArgfsTer6)
c.*691_*694dup (n.*691_*694dup)
c.1083_1086dup (p.Leu363ArgfsTer6)
c.1113_1116dup (p.Leu373ArgfsTer6)
n.794_797dup
c.*331_*334dup (n.*331_*334dup)
c.*454_*457dup (n.*454_*457dup)
c.999_1002dup (p.Leu335ArgfsTer6)
c.156_159dup (p.Leu54ArgfsTer6)
n.438_441dup
n.427_430dup
c.906_909dup (p.Leu304ArgfsTer6)
c.1134_1137dup (p.Leu380ArgfsTer6)
c.1041_1044dup (p.Leu349ArgfsTer6)
Xg.19359015A=CA2418225257PDHA1c.1020A= (p.Glu340=)
c.*691A= (n.*691A=)
c.1083A= (p.Glu361=)
c.1113A= (p.Glu371=)
n.794A=
c.*331A= (n.*331A=)
c.*454A= (n.*454A=)
c.999A= (p.Glu333=)
c.156A= (p.Glu52=)
n.438A=
n.427A=
c.906A= (p.Glu302=)
c.1134A= (p.Glu378=)
c.1041A= (p.Glu347=)
Xg.19359015A>CCA10363173PDHA1c.1020A>C (p.Glu340Asp)
c.*691A>C (n.*691A>C)
c.1083A>C (p.Glu361Asp)
c.1113A>C (p.Glu371Asp)
n.794A>C
c.*331A>C (n.*331A>C)
c.*454A>C (n.*454A>C)
c.999A>C (p.Glu333Asp)
c.156A>C (p.Glu52Asp)
n.438A>C
n.427A>C
c.906A>C (p.Glu302Asp)
c.1134A>C (p.Glu378Asp)
c.1041A>C (p.Glu347Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359015A>GCA515486390PDHA1c.1020A>G (p.Glu340=)
c.*691A>G (n.*691A>G)
c.1083A>G (p.Glu361=)
c.1113A>G (p.Glu371=)
n.794A>G
c.*331A>G (n.*331A>G)
c.*454A>G (n.*454A>G)
c.999A>G (p.Glu333=)
c.156A>G (p.Glu52=)
n.438A>G
n.427A>G
c.906A>G (p.Glu302=)
c.1134A>G (p.Glu378=)
c.1041A>G (p.Glu347=)
 gnomAD v4
Xg.19359015A>TCA412396284PDHA1c.1020A>T (p.Glu340Asp)
c.*691A>T (n.*691A>T)
c.1083A>T (p.Glu361Asp)
c.1113A>T (p.Glu371Asp)
n.794A>T
c.*331A>T (n.*331A>T)
c.*454A>T (n.*454A>T)
c.999A>T (p.Glu333Asp)
c.156A>T (p.Glu52Asp)
n.438A>T
n.427A>T
c.906A>T (p.Glu302Asp)
c.1134A>T (p.Glu378Asp)
c.1041A>T (p.Glu347Asp)
Xg.19359015_19359034delCA2695231663PDHA1c.1020_1029+10del
c.*691_*700+10del
c.1083_1092+10del
c.1113_1122+10del
n.794_803+10del
c.*331_*340+10del
c.*454_*463+10del
c.999_1008+10del
c.156_165+10del
n.438_447+10del
c.906_915+10del
c.1134_1143+10del
c.1041_1050+10del
Xg.19359015_19359038dupCA2693251102PDHA1c.1020_1029+14dup
c.*691_*700+14dup
c.1083_1092+14dup
c.1113_1122+14dup
n.794_803+14dup
c.*331_*340+14dup
c.*454_*463+14dup
c.999_1008+14dup
c.156_165+14dup
n.438_447+14dup
c.906_915+14dup
c.1134_1143+14dup
c.1041_1050+14dup
 gnomAD v4
Xg.19359016G>ACA412396285PDHA1c.1021G>A (p.Glu341Lys)
c.*692G>A (n.*692G>A)
c.1084G>A (p.Glu362Lys)
c.1114G>A (p.Glu372Lys)
n.795G>A
c.*332G>A (n.*332G>A)
c.*455G>A (n.*455G>A)
c.1000G>A (p.Glu334Lys)
c.157G>A (p.Glu53Lys)
n.439G>A
n.428G>A
c.907G>A (p.Glu303Lys)
c.1135G>A (p.Glu379Lys)
c.1042G>A (p.Glu348Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19359016G>CCA412396286PDHA1c.1021G>C (p.Glu341Gln)
c.*692G>C (n.*692G>C)
c.1084G>C (p.Glu362Gln)
c.1114G>C (p.Glu372Gln)
n.795G>C
c.*332G>C (n.*332G>C)
c.*455G>C (n.*455G>C)
c.1000G>C (p.Glu334Gln)
c.157G>C (p.Glu53Gln)
n.439G>C
n.428G>C
c.907G>C (p.Glu303Gln)
c.1135G>C (p.Glu379Gln)
c.1042G>C (p.Glu348Gln)
 gnomAD v4
Xg.19359016G=CA2418225258PDHA1c.1021G= (p.Glu341=)
c.*692G= (n.*692G=)
c.1084G= (p.Glu362=)
c.1114G= (p.Glu372=)
n.795G=
c.*332G= (n.*332G=)
c.*455G= (n.*455G=)
c.1000G= (p.Glu334=)
c.157G= (p.Glu53=)
n.439G=
n.428G=
c.907G= (p.Glu303=)
c.1135G= (p.Glu379=)
c.1042G= (p.Glu348=)
Xg.19359016G>TCA412396287PDHA1c.1021G>T (p.Glu341Ter)
c.*692G>T (n.*692G>T)
c.1084G>T (p.Glu362Ter)
c.1114G>T (p.Glu372Ter)
n.795G>T
c.*332G>T (n.*332G>T)
c.*455G>T (n.*455G>T)
c.1000G>T (p.Glu334Ter)
c.157G>T (p.Glu53Ter)
n.439G>T
n.428G>T
c.907G>T (p.Glu303Ter)
c.1135G>T (p.Glu379Ter)
c.1042G>T (p.Glu348Ter)
Xg.19359017A>CCA412396288PDHA1c.1022A>C (p.Glu341Ala)
c.*693A>C (n.*693A>C)
c.1085A>C (p.Glu362Ala)
c.1115A>C (p.Glu372Ala)
n.796A>C
c.*333A>C (n.*333A>C)
c.*456A>C (n.*456A>C)
c.1001A>C (p.Glu334Ala)
c.158A>C (p.Glu53Ala)
n.440A>C
n.429A>C
c.908A>C (p.Glu303Ala)
c.1136A>C (p.Glu379Ala)
c.1043A>C (p.Glu348Ala)
Xg.19359017A>GCA412396289PDHA1c.1022A>G (p.Glu341Gly)
c.*693A>G (n.*693A>G)
c.1085A>G (p.Glu362Gly)
c.1115A>G (p.Glu372Gly)
n.796A>G
c.*333A>G (n.*333A>G)
c.*456A>G (n.*456A>G)
c.1001A>G (p.Glu334Gly)
c.158A>G (p.Glu53Gly)
n.440A>G
n.429A>G
c.908A>G (p.Glu303Gly)
c.1136A>G (p.Glu379Gly)
c.1043A>G (p.Glu348Gly)
Xg.19359017A>TCA412396290PDHA1c.1022A>T (p.Glu341Val)
c.*693A>T (n.*693A>T)
c.1085A>T (p.Glu362Val)
c.1115A>T (p.Glu372Val)
n.796A>T
c.*333A>T (n.*333A>T)
c.*456A>T (n.*456A>T)
c.1001A>T (p.Glu334Val)
c.158A>T (p.Glu53Val)
n.440A>T
n.429A>T
c.908A>T (p.Glu303Val)
c.1136A>T (p.Glu379Val)
c.1043A>T (p.Glu348Val)
Xg.19359018A>CCA412396291PDHA1c.1023A>C (p.Glu341Asp)
c.*694A>C (n.*694A>C)
c.1086A>C (p.Glu362Asp)
c.1116A>C (p.Glu372Asp)
n.797A>C
c.*334A>C (n.*334A>C)
c.*457A>C (n.*457A>C)
c.1002A>C (p.Glu334Asp)
c.159A>C (p.Glu53Asp)
n.441A>C
n.430A>C
c.909A>C (p.Glu303Asp)
c.1137A>C (p.Glu379Asp)
c.1044A>C (p.Glu348Asp)
Xg.19359018A>GCA515486394PDHA1c.1023A>G (p.Glu341=)
c.*694A>G (n.*694A>G)
c.1086A>G (p.Glu362=)
c.1116A>G (p.Glu372=)
n.797A>G
c.*334A>G (n.*334A>G)
c.*457A>G (n.*457A>G)
c.1002A>G (p.Glu334=)
c.159A>G (p.Glu53=)
n.441A>G
n.430A>G
c.909A>G (p.Glu303=)
c.1137A>G (p.Glu379=)
c.1044A>G (p.Glu348=)
 gnomAD v4
Xg.19359018A>TCA412396292PDHA1c.1023A>T (p.Glu341Asp)
c.*694A>T (n.*694A>T)
c.1086A>T (p.Glu362Asp)
c.1116A>T (p.Glu372Asp)
n.797A>T
c.*334A>T (n.*334A>T)
c.*457A>T (n.*457A>T)
c.1002A>T (p.Glu334Asp)
c.159A>T (p.Glu53Asp)
n.441A>T
n.430A>T
c.909A>T (p.Glu303Asp)
c.1137A>T (p.Glu379Asp)
c.1044A>T (p.Glu348Asp)
Xg.19359019C>ACA412396293PDHA1c.1024C>A (p.Leu342Ile)
c.*695C>A (n.*695C>A)
c.1087C>A (p.Leu363Ile)
c.1117C>A (p.Leu373Ile)
n.798C>A
c.*335C>A (n.*335C>A)
c.*458C>A (n.*458C>A)
c.1003C>A (p.Leu335Ile)
c.160C>A (p.Leu54Ile)
n.442C>A
n.431C>A
c.910C>A (p.Leu304Ile)
c.1138C>A (p.Leu380Ile)
c.1045C>A (p.Leu349Ile)
 gnomAD v4
Xg.19359019C=CA2418225259PDHA1c.1024C= (p.Leu342=)
c.*695C= (n.*695C=)
c.1087C= (p.Leu363=)
c.1117C= (p.Leu373=)
n.798C=
c.*335C= (n.*335C=)
c.*458C= (n.*458C=)
c.1003C= (p.Leu335=)
c.160C= (p.Leu54=)
n.442C=
n.431C=
c.910C= (p.Leu304=)
c.1138C= (p.Leu380=)
c.1045C= (p.Leu349=)
Xg.19359019C>GCA412396294PDHA1c.1024C>G (p.Leu342Val)
c.*695C>G (n.*695C>G)
c.1087C>G (p.Leu363Val)
c.1117C>G (p.Leu373Val)
n.798C>G
c.*335C>G (n.*335C>G)
c.*458C>G (n.*458C>G)
c.1003C>G (p.Leu335Val)
c.160C>G (p.Leu54Val)
n.442C>G
n.431C>G
c.910C>G (p.Leu304Val)
c.1138C>G (p.Leu380Val)
c.1045C>G (p.Leu349Val)
Xg.19359019C>TCA515486396PDHA1c.1024C>T (p.Leu342=)
c.*695C>T (n.*695C>T)
c.1087C>T (p.Leu363=)
c.1117C>T (p.Leu373=)
n.798C>T
c.*335C>T (n.*335C>T)
c.*458C>T (n.*458C>T)
c.1003C>T (p.Leu335=)
c.160C>T (p.Leu54=)
n.442C>T
n.431C>T
c.910C>T (p.Leu304=)
c.1138C>T (p.Leu380=)
c.1045C>T (p.Leu349=)
 dbSNP gnomAD v4
Xg.19359020T>ACA412396295PDHA1c.1025T>A (p.Leu342Gln)
c.*696T>A (n.*696T>A)
c.1088T>A (p.Leu363Gln)
c.1118T>A (p.Leu373Gln)
n.799T>A
c.*336T>A (n.*336T>A)
c.*459T>A (n.*459T>A)
c.1004T>A (p.Leu335Gln)
c.161T>A (p.Leu54Gln)
n.443T>A
n.432T>A
c.911T>A (p.Leu304Gln)
c.1139T>A (p.Leu380Gln)
c.1046T>A (p.Leu349Gln)
 gnomAD v4
Xg.19359020T>CCA412396297PDHA1c.1025T>C (p.Leu342Pro)
c.*696T>C (n.*696T>C)
c.1088T>C (p.Leu363Pro)
c.1118T>C (p.Leu373Pro)
n.799T>C
c.*336T>C (n.*336T>C)
c.*459T>C (n.*459T>C)
c.1004T>C (p.Leu335Pro)
c.161T>C (p.Leu54Pro)
n.443T>C
n.432T>C
c.911T>C (p.Leu304Pro)
c.1139T>C (p.Leu380Pro)
c.1046T>C (p.Leu349Pro)
 gnomAD v4
Xg.19359020T>GCA412396296PDHA1c.1025T>G (p.Leu342Arg)
c.*696T>G (n.*696T>G)
c.1088T>G (p.Leu363Arg)
c.1118T>G (p.Leu373Arg)
n.799T>G
c.*336T>G (n.*336T>G)
c.*459T>G (n.*459T>G)
c.1004T>G (p.Leu335Arg)
c.161T>G (p.Leu54Arg)
n.443T>G
n.432T>G
c.911T>G (p.Leu304Arg)
c.1139T>G (p.Leu380Arg)
c.1046T>G (p.Leu349Arg)
Xg.19359021_19359038dupCA10363174PDHA1c.1026_1029+14dup
c.*697_*700+14dup
c.1089_1092+14dup
c.1119_1122+14dup
n.800_803+14dup
c.*337_*340+14dup
c.*460_*463+14dup
c.1005_1008+14dup
c.162_165+14dup
n.444_447+14dup
c.912_915+14dup
c.1140_1143+14dup
c.1047_1050+14dup
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359021_19359042dupCA2693251103PDHA1c.1026_1029+18dup
c.*697_*700+18dup
c.1089_1092+18dup
c.1119_1122+18dup
n.800_803+18dup
c.*337_*340+18dup
c.*460_*463+18dup
c.1005_1008+18dup
c.162_165+18dup
n.444_447+18dup
c.912_915+18dup
c.1140_1143+18dup
c.1047_1050+18dup
 gnomAD v4
Xg.19359021A>CCA515486398PDHA1c.1026A>C (p.Leu342=)
c.*697A>C (n.*697A>C)
c.1089A>C (p.Leu363=)
c.1119A>C (p.Leu373=)
n.800A>C
c.*337A>C (n.*337A>C)
c.*460A>C (n.*460A>C)
c.1005A>C (p.Leu335=)
c.162A>C (p.Leu54=)
n.444A>C
n.433A>C
c.912A>C (p.Leu304=)
c.1140A>C (p.Leu380=)
c.1047A>C (p.Leu349=)
Xg.19359021A>GCA515486399PDHA1c.1026A>G (p.Leu342=)
c.*697A>G (n.*697A>G)
c.1089A>G (p.Leu363=)
c.1119A>G (p.Leu373=)
n.800A>G
c.*337A>G (n.*337A>G)
c.*460A>G (n.*460A>G)
c.1005A>G (p.Leu335=)
c.162A>G (p.Leu54=)
n.444A>G
n.433A>G
c.912A>G (p.Leu304=)
c.1140A>G (p.Leu380=)
c.1047A>G (p.Leu349=)
 gnomAD v4
Xg.19359021A>TCA515486400PDHA1c.1026A>T (p.Leu342=)
c.*697A>T (n.*697A>T)
c.1089A>T (p.Leu363=)
c.1119A>T (p.Leu373=)
n.800A>T
c.*337A>T (n.*337A>T)
c.*460A>T (n.*460A>T)
c.1005A>T (p.Leu335=)
c.162A>T (p.Leu54=)
n.444A>T
n.433A>T
c.912A>T (p.Leu304=)
c.1140A>T (p.Leu380=)
c.1047A>T (p.Leu349=)
Xg.19359021_19359041dupCA2819937051PDHA1c.1026_1029+17dup
c.*697_*700+17dup
c.1089_1092+17dup
c.1119_1122+17dup
n.800_803+17dup
c.*337_*340+17dup
c.*460_*463+17dup
c.1005_1008+17dup
c.162_165+17dup
n.444_447+17dup
c.912_915+17dup
c.1140_1143+17dup
c.1047_1050+17dup
Xg.19359022A>CCA412396298PDHA1c.1027A>C (p.Lys343Gln)
c.*698A>C (n.*698A>C)
c.1090A>C (p.Lys364Gln)
c.1120A>C (p.Lys374Gln)
n.801A>C
c.*338A>C (n.*338A>C)
c.*461A>C (n.*461A>C)
c.1006A>C (p.Lys336Gln)
c.163A>C (p.Lys55Gln)
n.445A>C
n.434A>C
c.913A>C (p.Lys305Gln)
c.1141A>C (p.Lys381Gln)
c.1048A>C (p.Lys350Gln)
Xg.19359022A>GCA412396299PDHA1c.1027A>G (p.Lys343Glu)
c.*698A>G (n.*698A>G)
c.1090A>G (p.Lys364Glu)
c.1120A>G (p.Lys374Glu)
n.801A>G
c.*338A>G (n.*338A>G)
c.*461A>G (n.*461A>G)
c.1006A>G (p.Lys336Glu)
c.163A>G (p.Lys55Glu)
n.445A>G
n.434A>G
c.913A>G (p.Lys305Glu)
c.1141A>G (p.Lys381Glu)
c.1048A>G (p.Lys350Glu)
 gnomAD v4
Xg.19359022A>TCA412396300PDHA1c.1027A>T (p.Lys343Ter)
c.*698A>T (n.*698A>T)
c.1090A>T (p.Lys364Ter)
c.1120A>T (p.Lys374Ter)
n.801A>T
c.*338A>T (n.*338A>T)
c.*461A>T (n.*461A>T)
c.1006A>T (p.Lys336Ter)
c.163A>T (p.Lys55Ter)
n.445A>T
n.434A>T
c.913A>T (p.Lys305Ter)
c.1141A>T (p.Lys381Ter)
c.1048A>T (p.Lys350Ter)
Xg.19359023A=CA2418225260PDHA1c.1028A= (p.Lys343=)
c.*699A= (n.*699A=)
c.1091A= (p.Lys364=)
c.1121A= (p.Lys374=)
n.802A=
c.*339A= (n.*339A=)
c.*462A= (n.*462A=)
c.1007A= (p.Lys336=)
c.164A= (p.Lys55=)
n.446A=
n.435A=
c.914A= (p.Lys305=)
c.1142A= (p.Lys381=)
c.1049A= (p.Lys350=)
Xg.19359023A>CCA412396301PDHA1c.1028A>C (p.Lys343Thr)
c.*699A>C (n.*699A>C)
c.1091A>C (p.Lys364Thr)
c.1121A>C (p.Lys374Thr)
n.802A>C
c.*339A>C (n.*339A>C)
c.*462A>C (n.*462A>C)
c.1007A>C (p.Lys336Thr)
c.164A>C (p.Lys55Thr)
n.446A>C
n.435A>C
c.914A>C (p.Lys305Thr)
c.1142A>C (p.Lys381Thr)
c.1049A>C (p.Lys350Thr)
Xg.19359023A>GCA412396302PDHA1c.1028A>G (p.Lys343Arg)
c.*699A>G (n.*699A>G)
c.1091A>G (p.Lys364Arg)
c.1121A>G (p.Lys374Arg)
n.802A>G
c.*339A>G (n.*339A>G)
c.*462A>G (n.*462A>G)
c.1007A>G (p.Lys336Arg)
c.164A>G (p.Lys55Arg)
n.446A>G
n.435A>G
c.914A>G (p.Lys305Arg)
c.1142A>G (p.Lys381Arg)
c.1049A>G (p.Lys350Arg)
 gnomAD v4
Xg.19359023A>TCA412396303PDHA1c.1028A>T (p.Lys343Met)
c.*699A>T (n.*699A>T)
c.1091A>T (p.Lys364Met)
c.1121A>T (p.Lys374Met)
n.802A>T
c.*339A>T (n.*339A>T)
c.*462A>T (n.*462A>T)
c.1007A>T (p.Lys336Met)
c.164A>T (p.Lys55Met)
n.446A>T
n.435A>T
c.914A>T (p.Lys305Met)
c.1142A>T (p.Lys381Met)
c.1049A>T (p.Lys350Met)
Xg.19359023_19359050delinsAGGTACAGTCACTTGTTCATGGTGGTTTCA2418225261PDHA1c.1028_1029+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.*699_*700+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.1091_1092+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.1121_1122+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
n.802_803+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.*339_*340+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.*462_*463+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.1007_1008+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.164_165+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
n.446_447+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.914_915+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.1142_1143+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
c.1049_1050+26delinsAGGTACAGTCACTTGTTCATGGTGGTTT
Xg.19359024G>ACA515486401PDHA1c.1029G>A (p.Lys343=)
c.*700G>A (n.*700G>A)
c.1092G>A (p.Lys364=)
c.1122G>A (p.Lys374=)
n.803G>A
c.*340G>A (n.*340G>A)
c.*463G>A (n.*463G>A)
c.1008G>A (p.Lys336=)
c.165G>A (p.Lys55=)
n.447G>A
n.436G>A
c.915G>A (p.Lys305=)
c.1143G>A (p.Lys381=)
c.1050G>A (p.Lys350=)
 dbSNP gnomAD v2 gnomAD v4
Xg.19359024G>CCA412396304PDHA1c.1029G>C (p.Lys343Asn)
c.*700G>C (n.*700G>C)
c.1092G>C (p.Lys364Asn)
c.1122G>C (p.Lys374Asn)
n.803G>C
c.*340G>C (n.*340G>C)
c.*463G>C (n.*463G>C)
c.1008G>C (p.Lys336Asn)
c.165G>C (p.Lys55Asn)
n.447G>C
n.436G>C
c.915G>C (p.Lys305Asn)
c.1143G>C (p.Lys381Asn)
c.1050G>C (p.Lys350Asn)
Xg.19359024G=CA2418225262PDHA1c.1029G= (p.Lys343=)
c.*700G= (n.*700G=)
c.1092G= (p.Lys364=)
c.1122G= (p.Lys374=)
n.803G=
c.*340G= (n.*340G=)
c.*463G= (n.*463G=)
c.1008G= (p.Lys336=)
c.165G= (p.Lys55=)
n.447G=
n.436G=
c.915G= (p.Lys305=)
c.1143G= (p.Lys381=)
c.1050G= (p.Lys350=)
Xg.19359024G>TCA412396305PDHA1c.1029G>T (p.Lys343Asn)
c.*700G>T (n.*700G>T)
c.1092G>T (p.Lys364Asn)
c.1122G>T (p.Lys374Asn)
n.803G>T
c.*340G>T (n.*340G>T)
c.*463G>T (n.*463G>T)
c.1008G>T (p.Lys336Asn)
c.165G>T (p.Lys55Asn)
n.447G>T
n.436G>T
c.915G>T (p.Lys305Asn)
c.1143G>T (p.Lys381Asn)
c.1050G>T (p.Lys350Asn)
Xg.19359025delCA2579566421PDHA1c.1029+1del
c.*700+1del
c.1092+1del
c.1122+1del
n.803+1del
c.*340+1del
c.*463+1del
c.1008+1del
c.165+1del
n.447+1del
n.437del
c.915+1del
c.1143+1del
c.1050+1del
Xg.19359025_19359044dupCA10363175PDHA1c.1029+1_1029+20dup
c.*700+1_*700+20dup
c.1092+1_1092+20dup
c.1122+1_1122+20dup
n.803+1_803+20dup
c.*340+1_*340+20dup
c.*463+1_*463+20dup
c.1008+1_1008+20dup
c.165+1_165+20dup
n.447+1_447+20dup
c.915+1_915+20dup
c.1143+1_1143+20dup
c.1050+1_1050+20dup
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.19359024_19359044dupCA2418225263PDHA1c.1029_1029+20dup
c.*700_*700+20dup
c.1092_1092+20dup
c.1122_1122+20dup
n.803_803+20dup
c.*340_*340+20dup
c.*463_*463+20dup
c.1008_1008+20dup
c.165_165+20dup
n.447_447+20dup
c.915_915+20dup
c.1143_1143+20dup
c.1050_1050+20dup
 dbSNP gnomAD v4
Xg.19359025_19359051dupCA2693251104PDHA1c.1029+1_1029+27dup
c.*700+1_*700+27dup
c.1092+1_1092+27dup
c.1122+1_1122+27dup
n.803+1_803+27dup
c.*340+1_*340+27dup
c.*463+1_*463+27dup
c.1008+1_1008+27dup
c.165+1_165+27dup
n.447+1_447+27dup
c.915+1_915+27dup
c.1143+1_1143+27dup
c.1050+1_1050+27dup
 gnomAD v4
Xg.19359025_19359051delCA322394PDHA1c.1029+1_1029+27del
c.*700+1_*700+27del
c.1092+1_1092+27del
c.1122+1_1122+27del
n.803+1_803+27del
c.*340+1_*340+27del
c.*463+1_*463+27del
c.1008+1_1008+27del
c.165+1_165+27del
n.447+1_447+27del
c.915+1_915+27del
c.1143+1_1143+27del
c.1050+1_1050+27del
 ClinVar dbSNP
Xg.19359025G>ACA412396307PDHA1c.1029+1G>A (n.1029+1G>A)
c.*700+1G>A (n.*700+1G>A)
c.1092+1G>A (n.1092+1G>A)
c.1122+1G>A (n.1122+1G>A)
n.803+1G>A
c.*340+1G>A (n.*340+1G>A)
c.*463+1G>A (n.*463+1G>A)
c.1008+1G>A (n.1008+1G>A)
c.165+1G>A (n.165+1G>A)
n.447+1G>A
n.437G>A
c.915+1G>A (n.915+1G>A)
c.1143+1G>A (n.1143+1G>A)
c.1050+1G>A (n.1050+1G>A)
 gnomAD v4
Xg.19359025G>CCA412396306PDHA1c.1029+1G>C (n.1029+1G>C)
c.*700+1G>C (n.*700+1G>C)
c.1092+1G>C (n.1092+1G>C)
c.1122+1G>C (n.1122+1G>C)
n.803+1G>C
c.*340+1G>C (n.*340+1G>C)
c.*463+1G>C (n.*463+1G>C)
c.1008+1G>C (n.1008+1G>C)
c.165+1G>C (n.165+1G>C)
n.447+1G>C
n.437G>C
c.915+1G>C (n.915+1G>C)
c.1143+1G>C (n.1143+1G>C)
c.1050+1G>C (n.1050+1G>C)
Xg.19359025G>TCA412396308PDHA1c.1029+1G>T (n.1029+1G>T)
c.*700+1G>T (n.*700+1G>T)
c.1092+1G>T (n.1092+1G>T)
c.1122+1G>T (n.1122+1G>T)
n.803+1G>T
c.*340+1G>T (n.*340+1G>T)
c.*463+1G>T (n.*463+1G>T)
c.1008+1G>T (n.1008+1G>T)
c.165+1G>T (n.165+1G>T)
n.447+1G>T
n.437G>T
c.915+1G>T (n.915+1G>T)
c.1143+1G>T (n.1143+1G>T)
c.1050+1G>T (n.1050+1G>T)
Xg.19359025_19359026insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCCA2738442437PDHA1c.1029+1_1029+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.1029+1_1029+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.*700+1_*700+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.*700+1_*700+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.1092+1_1092+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.1092+1_1092+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.1122+1_1122+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.1122+1_1122+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
n.803+1_803+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC
c.*340+1_*340+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.*340+1_*340+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.*463+1_*463+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.*463+1_*463+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.1008+1_1008+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.1008+1_1008+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.165+1_165+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.165+1_165+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
n.447+1_447+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC
c.915+1_915+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.915+1_915+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.1143+1_1143+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.1143+1_1143+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
c.1050+1_1050+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC (n.1050+1_1050+2insAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGC)
 dbSNP
Xg.19359026T>ACA412396309PDHA1c.1029+2T>A (n.1029+2T>A)
c.*700+2T>A (n.*700+2T>A)
c.1092+2T>A (n.1092+2T>A)
c.1122+2T>A (n.1122+2T>A)
n.803+2T>A
c.*340+2T>A (n.*340+2T>A)
c.*463+2T>A (n.*463+2T>A)
c.1008+2T>A (n.1008+2T>A)
c.165+2T>A (n.165+2T>A)
n.447+2T>A
c.915+2T>A (n.915+2T>A)
c.1143+2T>A (n.1143+2T>A)
c.1050+2T>A (n.1050+2T>A)
Xg.19359026T>CCA412396310PDHA1c.1029+2T>C (n.1029+2T>C)
c.*700+2T>C (n.*700+2T>C)
c.1092+2T>C (n.1092+2T>C)
c.1122+2T>C (n.1122+2T>C)
n.803+2T>C
c.*340+2T>C (n.*340+2T>C)
c.*463+2T>C (n.*463+2T>C)
c.1008+2T>C (n.1008+2T>C)
c.165+2T>C (n.165+2T>C)
n.447+2T>C
c.915+2T>C (n.915+2T>C)
c.1143+2T>C (n.1143+2T>C)
c.1050+2T>C (n.1050+2T>C)
 gnomAD v4
Xg.19359026T>GCA412396311PDHA1c.1029+2T>G (n.1029+2T>G)
c.*700+2T>G (n.*700+2T>G)
c.1092+2T>G (n.1092+2T>G)
c.1122+2T>G (n.1122+2T>G)
n.803+2T>G
c.*340+2T>G (n.*340+2T>G)
c.*463+2T>G (n.*463+2T>G)
c.1008+2T>G (n.1008+2T>G)
c.165+2T>G (n.165+2T>G)
n.447+2T>G
c.915+2T>G (n.915+2T>G)
c.1143+2T>G (n.1143+2T>G)
c.1050+2T>G (n.1050+2T>G)
Xg.19359028_19359029delCA2738442455PDHA1c.1029+4_1029+5del (n.1029+4_1029+5del)
c.*700+4_*700+5del (n.*700+4_*700+5del)
c.1092+4_1092+5del (n.1092+4_1092+5del)
c.1122+4_1122+5del (n.1122+4_1122+5del)
n.803+4_803+5del
c.*340+4_*340+5del (n.*340+4_*340+5del)
c.*463+4_*463+5del (n.*463+4_*463+5del)
c.1008+4_1008+5del (n.1008+4_1008+5del)
c.165+4_165+5del (n.165+4_165+5del)
n.447+4_447+5del
c.915+4_915+5del (n.915+4_915+5del)
c.1143+4_1143+5del (n.1143+4_1143+5del)
c.1050+4_1050+5del (n.1050+4_1050+5del)
 dbSNP
Xg.19359028C>ACA2579566422PDHA1c.1029+4C>A (n.1029+4C>A)
c.*700+4C>A (n.*700+4C>A)
c.1092+4C>A (n.1092+4C>A)
c.1122+4C>A (n.1122+4C>A)
n.803+4C>A
c.*340+4C>A (n.*340+4C>A)
c.*463+4C>A (n.*463+4C>A)
c.1008+4C>A (n.1008+4C>A)
c.165+4C>A (n.165+4C>A)
n.447+4C>A
c.915+4C>A (n.915+4C>A)
c.1143+4C>A (n.1143+4C>A)
c.1050+4C>A (n.1050+4C>A)
 gnomAD v4
Xg.19359028C=CA2418225264PDHA1c.1029+4C= (n.1029+4C=)
c.*700+4C= (n.*700+4C=)
c.1092+4C= (n.1092+4C=)
c.1122+4C= (n.1122+4C=)
n.803+4C=
c.*340+4C= (n.*340+4C=)
c.*463+4C= (n.*463+4C=)
c.1008+4C= (n.1008+4C=)
c.165+4C= (n.165+4C=)
n.447+4C=
c.915+4C= (n.915+4C=)
c.1143+4C= (n.1143+4C=)
c.1050+4C= (n.1050+4C=)
Xg.19359028C>TCA2693251105PDHA1c.1029+4C>T (n.1029+4C>T)
c.*700+4C>T (n.*700+4C>T)
c.1092+4C>T (n.1092+4C>T)
c.1122+4C>T (n.1122+4C>T)
n.803+4C>T
c.*340+4C>T (n.*340+4C>T)
c.*463+4C>T (n.*463+4C>T)
c.1008+4C>T (n.1008+4C>T)
c.165+4C>T (n.165+4C>T)
n.447+4C>T
c.915+4C>T (n.915+4C>T)
c.1143+4C>T (n.1143+4C>T)
c.1050+4C>T (n.1050+4C>T)
 ClinVar gnomAD v4
Xg.19359030_19359033dupCA2573158422PDHA1c.1029+6_1029+9dup (n.1029+6_1029+9dup)
c.*700+6_*700+9dup (n.*700+6_*700+9dup)
c.1092+6_1092+9dup (n.1092+6_1092+9dup)
c.1122+6_1122+9dup (n.1122+6_1122+9dup)
n.803+6_803+9dup
c.*340+6_*340+9dup (n.*340+6_*340+9dup)
c.*463+6_*463+9dup (n.*463+6_*463+9dup)
c.1008+6_1008+9dup (n.1008+6_1008+9dup)
c.165+6_165+9dup (n.165+6_165+9dup)
n.447+6_447+9dup
c.915+6_915+9dup (n.915+6_915+9dup)
c.1143+6_1143+9dup (n.1143+6_1143+9dup)
c.1050+6_1050+9dup (n.1050+6_1050+9dup)
 ClinVar dbSNP gnomAD v4
Xg.19359029A=CA2418225265PDHA1c.1029+5A= (n.1029+5A=)
c.*700+5A= (n.*700+5A=)
c.1092+5A= (n.1092+5A=)
c.1122+5A= (n.1122+5A=)
n.803+5A=
c.*340+5A= (n.*340+5A=)
c.*463+5A= (n.*463+5A=)
c.1008+5A= (n.1008+5A=)
c.165+5A= (n.165+5A=)
n.447+5A=
c.915+5A= (n.915+5A=)
c.1143+5A= (n.1143+5A=)
c.1050+5A= (n.1050+5A=)
Xg.19359030_19359052dupCA640522595PDHA1c.1029+6_1029+28dup (n.1029+6_1029+28dup)
c.*700+6_*700+28dup (n.*700+6_*700+28dup)
c.1092+6_1092+28dup (n.1092+6_1092+28dup)
c.1122+6_1122+28dup (n.1122+6_1122+28dup)
n.803+6_803+28dup
c.*340+6_*340+28dup (n.*340+6_*340+28dup)
c.*463+6_*463+28dup (n.*463+6_*463+28dup)
c.1008+6_1008+28dup (n.1008+6_1008+28dup)
c.165+6_165+28dup (n.165+6_165+28dup)
n.447+6_447+28dup
c.915+6_915+28dup (n.915+6_915+28dup)
c.1143+6_1143+28dup (n.1143+6_1143+28dup)
c.1050+6_1050+28dup (n.1050+6_1050+28dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.19359030G>ACA2693251106PDHA1c.1029+6G>A (n.1029+6G>A)
c.*700+6G>A (n.*700+6G>A)
c.1092+6G>A (n.1092+6G>A)
c.1122+6G>A (n.1122+6G>A)
n.803+6G>A
c.*340+6G>A (n.*340+6G>A)
c.*463+6G>A (n.*463+6G>A)
c.1008+6G>A (n.1008+6G>A)
c.165+6G>A (n.165+6G>A)
n.447+6G>A
c.915+6G>A (n.915+6G>A)
c.1143+6G>A (n.1143+6G>A)
c.1050+6G>A (n.1050+6G>A)
 gnomAD v4
Xg.19359030_19359038dupCA2573158423PDHA1c.1029+6_1029+14dup (n.1029+6_1029+14dup)
c.*700+6_*700+14dup (n.*700+6_*700+14dup)
c.1092+6_1092+14dup (n.1092+6_1092+14dup)
c.1122+6_1122+14dup (n.1122+6_1122+14dup)
n.803+6_803+14dup
c.*340+6_*340+14dup (n.*340+6_*340+14dup)
c.*463+6_*463+14dup (n.*463+6_*463+14dup)
c.1008+6_1008+14dup (n.1008+6_1008+14dup)
c.165+6_165+14dup (n.165+6_165+14dup)
n.447+6_447+14dup
c.915+6_915+14dup (n.915+6_915+14dup)
c.1143+6_1143+14dup (n.1143+6_1143+14dup)
c.1050+6_1050+14dup (n.1050+6_1050+14dup)
 ClinVar dbSNP
Xg.19359032_19359056dupCA2418225266PDHA1c.1029+8_1029+32dup (n.1029+8_1029+32dup)
c.*700+8_*700+32dup (n.*700+8_*700+32dup)
c.1092+8_1092+32dup (n.1092+8_1092+32dup)
c.1122+8_1122+32dup (n.1122+8_1122+32dup)
n.803+8_803+32dup
c.*340+8_*340+32dup (n.*340+8_*340+32dup)
c.*463+8_*463+32dup (n.*463+8_*463+32dup)
c.1008+8_1008+32dup (n.1008+8_1008+32dup)
c.165+8_165+32dup (n.165+8_165+32dup)
n.447+8_447+32dup
c.915+8_915+32dup (n.915+8_915+32dup)
c.1143+8_1143+32dup (n.1143+8_1143+32dup)
c.1050+8_1050+32dup (n.1050+8_1050+32dup)
 dbSNP
Xg.19359031T>ACA2693251107PDHA1c.1029+7T>A (n.1029+7T>A)
c.*700+7T>A (n.*700+7T>A)
c.1092+7T>A (n.1092+7T>A)
c.1122+7T>A (n.1122+7T>A)
n.803+7T>A
c.*340+7T>A (n.*340+7T>A)
c.*463+7T>A (n.*463+7T>A)
c.1008+7T>A (n.1008+7T>A)
c.165+7T>A (n.165+7T>A)
n.447+7T>A
c.915+7T>A (n.915+7T>A)
c.1143+7T>A (n.1143+7T>A)
c.1050+7T>A (n.1050+7T>A)
 gnomAD v4
Xg.19359031T>GCA10363176PDHA1c.1029+7T>G (n.1029+7T>G)
c.*700+7T>G (n.*700+7T>G)
c.1092+7T>G (n.1092+7T>G)
c.1122+7T>G (n.1122+7T>G)
n.803+7T>G
c.*340+7T>G (n.*340+7T>G)
c.*463+7T>G (n.*463+7T>G)
c.1008+7T>G (n.1008+7T>G)
c.165+7T>G (n.165+7T>G)
n.447+7T>G
c.915+7T>G (n.915+7T>G)
c.1143+7T>G (n.1143+7T>G)
c.1050+7T>G (n.1050+7T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.19359031T=CA2418225267PDHA1c.1029+7T= (n.1029+7T=)
c.*700+7T= (n.*700+7T=)
c.1092+7T= (n.1092+7T=)
c.1122+7T= (n.1122+7T=)
n.803+7T=
c.*340+7T= (n.*340+7T=)
c.*463+7T= (n.*463+7T=)
c.1008+7T= (n.1008+7T=)
c.165+7T= (n.165+7T=)
n.447+7T=
c.915+7T= (n.915+7T=)
c.1143+7T= (n.1143+7T=)
c.1050+7T= (n.1050+7T=)
Xg.19359032C>ACA2579566423PDHA1c.1029+8C>A (n.1029+8C>A)
c.*700+8C>A (n.*700+8C>A)
c.1092+8C>A (n.1092+8C>A)
c.1122+8C>A (n.1122+8C>A)
n.803+8C>A
c.*340+8C>A (n.*340+8C>A)
c.*463+8C>A (n.*463+8C>A)
c.1008+8C>A (n.1008+8C>A)
c.165+8C>A (n.165+8C>A)
n.447+8C>A
c.915+8C>A (n.915+8C>A)
c.1143+8C>A (n.1143+8C>A)
c.1050+8C>A (n.1050+8C>A)
 gnomAD v4
Xg.19359032C=CA2418225268PDHA1c.1029+8C= (n.1029+8C=)
c.*700+8C= (n.*700+8C=)
c.1092+8C= (n.1092+8C=)
c.1122+8C= (n.1122+8C=)
n.803+8C=
c.*340+8C= (n.*340+8C=)
c.*463+8C= (n.*463+8C=)
c.1008+8C= (n.1008+8C=)
c.165+8C= (n.165+8C=)
n.447+8C=
c.915+8C= (n.915+8C=)
c.1143+8C= (n.1143+8C=)
c.1050+8C= (n.1050+8C=)
Xg.19359032C>TCA873742169PDHA1c.1029+8C>T (n.1029+8C>T)
c.*700+8C>T (n.*700+8C>T)
c.1092+8C>T (n.1092+8C>T)
c.1122+8C>T (n.1122+8C>T)
n.803+8C>T
c.*340+8C>T (n.*340+8C>T)
c.*463+8C>T (n.*463+8C>T)
c.1008+8C>T (n.1008+8C>T)
c.165+8C>T (n.165+8C>T)
n.447+8C>T
c.915+8C>T (n.915+8C>T)
c.1143+8C>T (n.1143+8C>T)
c.1050+8C>T (n.1050+8C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.19359033A>TCA2693251108PDHA1c.1029+9A>T (n.1029+9A>T)
c.*700+9A>T (n.*700+9A>T)
c.1092+9A>T (n.1092+9A>T)
c.1122+9A>T (n.1122+9A>T)
n.803+9A>T
c.*340+9A>T (n.*340+9A>T)
c.*463+9A>T (n.*463+9A>T)
c.1008+9A>T (n.1008+9A>T)
c.165+9A>T (n.165+9A>T)
n.447+9A>T
c.915+9A>T (n.915+9A>T)
c.1143+9A>T (n.1143+9A>T)
c.1050+9A>T (n.1050+9A>T)
 gnomAD v4
Xg.19359033_19359041dupCA920400537PDHA1c.1029+9_1029+17dup (n.1029+9_1029+17dup)
c.*700+9_*700+17dup (n.*700+9_*700+17dup)
c.1092+9_1092+17dup (n.1092+9_1092+17dup)
c.1122+9_1122+17dup (n.1122+9_1122+17dup)
n.803+9_803+17dup
c.*340+9_*340+17dup (n.*340+9_*340+17dup)
c.*463+9_*463+17dup (n.*463+9_*463+17dup)
c.1008+9_1008+17dup (n.1008+9_1008+17dup)
c.165+9_165+17dup (n.165+9_165+17dup)
n.447+9_447+17dup
c.915+9_915+17dup (n.915+9_915+17dup)
c.1143+9_1143+17dup (n.1143+9_1143+17dup)
c.1050+9_1050+17dup (n.1050+9_1050+17dup)
 ClinVar dbSNP
Xg.19359033_19359042dupCA2580100430PDHA1c.1029+9_1029+18dup (n.1029+9_1029+18dup)
c.*700+9_*700+18dup (n.*700+9_*700+18dup)
c.1092+9_1092+18dup (n.1092+9_1092+18dup)
c.1122+9_1122+18dup (n.1122+9_1122+18dup)
n.803+9_803+18dup
c.*340+9_*340+18dup (n.*340+9_*340+18dup)
c.*463+9_*463+18dup (n.*463+9_*463+18dup)
c.1008+9_1008+18dup (n.1008+9_1008+18dup)
c.165+9_165+18dup (n.165+9_165+18dup)
n.447+9_447+18dup
c.915+9_915+18dup (n.915+9_915+18dup)
c.1143+9_1143+18dup (n.1143+9_1143+18dup)
c.1050+9_1050+18dup (n.1050+9_1050+18dup)
 ClinVar

Number of alleles fetched