| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19350111_19351408dup | CA913191131 | PDHA1 | c.291+1_439+1dup c.291+1_418+1dup c.375+1_502+1dup c.405+1_532+1dup n.393+1_521dup c.405+1_553+1dup | ClinVar |
| X | g.19351324_19351338del | CA2580100428 | PDHA1 | c.356_370del (p.Asp119_Thr123del) c.335_349del (p.Asp112_Thr116del) c.419_433del (p.Asp140_Thr144del) c.449_463del (p.Asp150_Thr154del) n.437_451del c.470_484del (p.Asp157_Thr161del) | ClinVar |
| X | g.19351338G>A | CA412391071 | PDHA1 | c.370G>A (p.Ala124Thr) c.349G>A (p.Ala117Thr) c.433G>A (p.Ala145Thr) c.463G>A (p.Ala155Thr) n.451G>A c.484G>A (p.Ala162Thr) | gnomAD v4 |
| X | g.19351338G>C | CA412391073 | PDHA1 | c.370G>C (p.Ala124Pro) c.349G>C (p.Ala117Pro) c.433G>C (p.Ala145Pro) c.463G>C (p.Ala155Pro) n.451G>C c.484G>C (p.Ala162Pro) | |
| X | g.19351338G>T | CA412391069 | PDHA1 | c.370G>T (p.Ala124Ser) c.349G>T (p.Ala117Ser) c.433G>T (p.Ala145Ser) c.463G>T (p.Ala155Ser) n.451G>T c.484G>T (p.Ala162Ser) | |
| X | g.19351339C>A | CA412391075 | PDHA1 | c.371C>A (p.Ala124Asp) c.350C>A (p.Ala117Asp) c.434C>A (p.Ala145Asp) c.464C>A (p.Ala155Asp) n.452C>A c.485C>A (p.Ala162Asp) | |
| X | g.19351339C>G | CA412391077 | PDHA1 | c.371C>G (p.Ala124Gly) c.350C>G (p.Ala117Gly) c.434C>G (p.Ala145Gly) c.464C>G (p.Ala155Gly) n.452C>G c.485C>G (p.Ala162Gly) | |
| X | g.19351339C>T | CA412391079 | PDHA1 | c.371C>T (p.Ala124Val) c.350C>T (p.Ala117Val) c.434C>T (p.Ala145Val) c.464C>T (p.Ala155Val) n.452C>T c.485C>T (p.Ala162Val) | |
| X | g.19351340C>A | CA515485538 | PDHA1 | c.372C>A (p.Ala124=) c.351C>A (p.Ala117=) c.435C>A (p.Ala145=) c.465C>A (p.Ala155=) n.453C>A c.486C>A (p.Ala162=) | |
| X | g.19351340C>G | CA515485539 | PDHA1 | c.372C>G (p.Ala124=) c.351C>G (p.Ala117=) c.435C>G (p.Ala145=) c.465C>G (p.Ala155=) n.453C>G c.486C>G (p.Ala162=) | |
| X | g.19351340C>T | CA515485540 | PDHA1 | c.372C>T (p.Ala124=) c.351C>T (p.Ala117=) c.435C>T (p.Ala145=) c.465C>T (p.Ala155=) n.453C>T c.486C>T (p.Ala162=) | |
| X | g.19351341T>A | CA412391081 | PDHA1 | c.373T>A (p.Tyr125Asn) c.352T>A (p.Tyr118Asn) c.436T>A (p.Tyr146Asn) c.466T>A (p.Tyr156Asn) n.454T>A c.487T>A (p.Tyr163Asn) | |
| X | g.19351341T>C | CA412391083 | PDHA1 | c.373T>C (p.Tyr125His) c.352T>C (p.Tyr118His) c.436T>C (p.Tyr146His) c.466T>C (p.Tyr156His) n.454T>C c.487T>C (p.Tyr163His) | |
| X | g.19351341T>G | CA412391085 | PDHA1 | c.373T>G (p.Tyr125Asp) c.352T>G (p.Tyr118Asp) c.436T>G (p.Tyr146Asp) c.466T>G (p.Tyr156Asp) n.454T>G c.487T>G (p.Tyr163Asp) | |
| X | g.19351342A>C | CA412391086 | PDHA1 | c.374A>C (p.Tyr125Ser) c.353A>C (p.Tyr118Ser) c.437A>C (p.Tyr146Ser) c.467A>C (p.Tyr156Ser) n.455A>C c.488A>C (p.Tyr163Ser) | |
| X | g.19351342A>G | CA412391088 | PDHA1 | c.374A>G (p.Tyr125Cys) c.353A>G (p.Tyr118Cys) c.437A>G (p.Tyr146Cys) c.467A>G (p.Tyr156Cys) n.455A>G c.488A>G (p.Tyr163Cys) | |
| X | g.19351342A>T | CA412391089 | PDHA1 | c.374A>T (p.Tyr125Phe) c.353A>T (p.Tyr118Phe) c.437A>T (p.Tyr146Phe) c.467A>T (p.Tyr156Phe) n.455A>T c.488A>T (p.Tyr163Phe) | |
| X | g.19351343C>A | CA412391091 | PDHA1 | c.375C>A (p.Tyr125Ter) c.354C>A (p.Tyr118Ter) c.438C>A (p.Tyr146Ter) c.468C>A (p.Tyr156Ter) n.456C>A c.489C>A (p.Tyr163Ter) | gnomAD v4 |
| X | g.19351343C>G | CA412391093 | PDHA1 | c.375C>G (p.Tyr125Ter) c.354C>G (p.Tyr118Ter) c.438C>G (p.Tyr146Ter) c.468C>G (p.Tyr156Ter) n.456C>G c.489C>G (p.Tyr163Ter) | |
| X | g.19351343C>T | CA515485541 | PDHA1 | c.375C>T (p.Tyr125=) c.354C>T (p.Tyr118=) c.438C>T (p.Tyr146=) c.468C>T (p.Tyr156=) n.456C>T c.489C>T (p.Tyr163=) | ClinVar |
| X | g.19351344C>A | CA515485542 | PDHA1 | c.376C>A (p.Arg126=) c.355C>A (p.Arg119=) c.439C>A (p.Arg147=) c.469C>A (p.Arg157=) n.457C>A c.490C>A (p.Arg164=) | |
| X | g.19351344C>G | CA412391095 | PDHA1 | c.376C>G (p.Arg126Gly) c.355C>G (p.Arg119Gly) c.439C>G (p.Arg147Gly) c.469C>G (p.Arg157Gly) n.457C>G c.490C>G (p.Arg164Gly) | |
| X | g.19351344C>T | CA412391097 | PDHA1 | c.376C>T (p.Arg126Trp) c.355C>T (p.Arg119Trp) c.439C>T (p.Arg147Trp) c.469C>T (p.Arg157Trp) n.457C>T c.490C>T (p.Arg164Trp) | ClinVar dbSNP COSMIC |
| X | g.19351345G>A | CA412391099 | PDHA1 | c.377G>A (p.Arg126Gln) c.356G>A (p.Arg119Gln) c.440G>A (p.Arg147Gln) c.470G>A (p.Arg157Gln) n.458G>A c.491G>A (p.Arg164Gln) | |
| X | g.19351345G>C | CA412391103 | PDHA1 | c.377G>C (p.Arg126Pro) c.356G>C (p.Arg119Pro) c.440G>C (p.Arg147Pro) c.470G>C (p.Arg157Pro) n.458G>C c.491G>C (p.Arg164Pro) | |
| X | g.19351345G>T | CA412391100 | PDHA1 | c.377G>T (p.Arg126Leu) c.356G>T (p.Arg119Leu) c.440G>T (p.Arg147Leu) c.470G>T (p.Arg157Leu) n.458G>T c.491G>T (p.Arg164Leu) | |
| X | g.19351346G>A | CA10363026 | PDHA1 | c.378G>A (p.Arg126=) c.357G>A (p.Arg119=) c.441G>A (p.Arg147=) c.471G>A (p.Arg157=) n.459G>A c.492G>A (p.Arg164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351346G>C | CA515485543 | PDHA1 | c.378G>C (p.Arg126=) c.357G>C (p.Arg119=) c.441G>C (p.Arg147=) c.471G>C (p.Arg157=) n.459G>C c.492G>C (p.Arg164=) | |
| X | g.19351346G= | CA2418222113 | PDHA1 | c.378G= (p.Arg126=) c.357G= (p.Arg119=) c.441G= (p.Arg147=) c.471G= (p.Arg157=) n.459G= c.492G= (p.Arg164=) | |
| X | g.19351346G>T | CA515485544 | PDHA1 | c.378G>T (p.Arg126=) c.357G>T (p.Arg119=) c.441G>T (p.Arg147=) c.471G>T (p.Arg157=) n.459G>T c.492G>T (p.Arg164=) | |
| X | g.19351347G>A | CA412391107 | PDHA1 | c.379G>A (p.Ala127Thr) c.358G>A (p.Ala120Thr) c.442G>A (p.Ala148Thr) c.472G>A (p.Ala158Thr) n.460G>A c.493G>A (p.Ala165Thr) | |
| X | g.19351347G>C | CA412391109 | PDHA1 | c.379G>C (p.Ala127Pro) c.358G>C (p.Ala120Pro) c.442G>C (p.Ala148Pro) c.472G>C (p.Ala158Pro) n.460G>C c.493G>C (p.Ala165Pro) | |
| X | g.19351347G>T | CA412391110 | PDHA1 | c.379G>T (p.Ala127Ser) c.358G>T (p.Ala120Ser) c.442G>T (p.Ala148Ser) c.472G>T (p.Ala158Ser) n.460G>T c.493G>T (p.Ala165Ser) | COSMIC |
| X | g.19351348C>A | CA412391113 | PDHA1 | c.380C>A (p.Ala127Asp) c.359C>A (p.Ala120Asp) c.443C>A (p.Ala148Asp) c.473C>A (p.Ala158Asp) n.461C>A c.494C>A (p.Ala165Asp) | |
| X | g.19351348C= | CA2418222114 | PDHA1 | c.380C= (p.Ala127=) c.359C= (p.Ala120=) c.443C= (p.Ala148=) c.473C= (p.Ala158=) n.461C= c.494C= (p.Ala165=) | |
| X | g.19351348C>G | CA412391115 | PDHA1 | c.380C>G (p.Ala127Gly) c.359C>G (p.Ala120Gly) c.443C>G (p.Ala148Gly) c.473C>G (p.Ala158Gly) n.461C>G c.494C>G (p.Ala165Gly) | |
| X | g.19351348C>T | CA412391117 | PDHA1 | c.380C>T (p.Ala127Val) c.359C>T (p.Ala120Val) c.443C>T (p.Ala148Val) c.473C>T (p.Ala158Val) n.461C>T c.494C>T (p.Ala165Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351349T>A | CA515485551 | PDHA1 | c.381T>A (p.Ala127=) c.360T>A (p.Ala120=) c.444T>A (p.Ala148=) c.474T>A (p.Ala158=) n.462T>A c.495T>A (p.Ala165=) | |
| X | g.19351349T>C | CA515485555 | PDHA1 | c.381T>C (p.Ala127=) c.360T>C (p.Ala120=) c.444T>C (p.Ala148=) c.474T>C (p.Ala158=) n.462T>C c.495T>C (p.Ala165=) | |
| X | g.19351349T>G | CA515485552 | PDHA1 | c.381T>G (p.Ala127=) c.360T>G (p.Ala120=) c.444T>G (p.Ala148=) c.474T>G (p.Ala158=) n.462T>G c.495T>G (p.Ala165=) | |
| X | g.19351350C>A | CA412391119 | PDHA1 | c.382C>A (p.His128Asn) c.361C>A (p.His121Asn) c.445C>A (p.His149Asn) c.475C>A (p.His159Asn) n.463C>A c.496C>A (p.His166Asn) | |
| X | g.19351350C>G | CA412391120 | PDHA1 | c.382C>G (p.His128Asp) c.361C>G (p.His121Asp) c.445C>G (p.His149Asp) c.475C>G (p.His159Asp) n.463C>G c.496C>G (p.His166Asp) | |
| X | g.19351350C>T | CA412391122 | PDHA1 | c.382C>T (p.His128Tyr) c.361C>T (p.His121Tyr) c.445C>T (p.His149Tyr) c.475C>T (p.His159Tyr) n.463C>T c.496C>T (p.His166Tyr) | |
| X | g.19351351A>C | CA412391126 | PDHA1 | c.383A>C (p.His128Pro) c.362A>C (p.His121Pro) c.446A>C (p.His149Pro) c.476A>C (p.His159Pro) n.464A>C c.497A>C (p.His166Pro) | |
| X | g.19351351A>G | CA412391128 | PDHA1 | c.383A>G (p.His128Arg) c.362A>G (p.His121Arg) c.446A>G (p.His149Arg) c.476A>G (p.His159Arg) n.464A>G c.497A>G (p.His166Arg) | |
| X | g.19351351A>T | CA412391125 | PDHA1 | c.383A>T (p.His128Leu) c.362A>T (p.His121Leu) c.446A>T (p.His149Leu) c.476A>T (p.His159Leu) n.464A>T c.497A>T (p.His166Leu) | |
| X | g.19351352C>A | CA412391132 | PDHA1 | c.384C>A (p.His128Gln) c.363C>A (p.His121Gln) c.447C>A (p.His149Gln) c.477C>A (p.His159Gln) n.465C>A c.498C>A (p.His166Gln) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351352C= | CA2418222115 | PDHA1 | c.384C= (p.His128=) c.363C= (p.His121=) c.447C= (p.His149=) c.477C= (p.His159=) n.465C= c.498C= (p.His166=) | |
| X | g.19351352C>G | CA412391131 | PDHA1 | c.384C>G (p.His128Gln) c.363C>G (p.His121Gln) c.447C>G (p.His149Gln) c.477C>G (p.His159Gln) n.465C>G c.498C>G (p.His166Gln) | |
| X | g.19351352C>T | CA10363027 | PDHA1 | c.384C>T (p.His128=) c.363C>T (p.His121=) c.447C>T (p.His149=) c.477C>T (p.His159=) n.465C>T c.498C>T (p.His166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351353G>A | CA412391135 | PDHA1 | c.385G>A (p.Gly129Ser) c.364G>A (p.Gly122Ser) c.448G>A (p.Gly150Ser) c.478G>A (p.Gly160Ser) n.466G>A c.499G>A (p.Gly167Ser) | ClinVar dbSNP |
| X | g.19351353G>C | CA412391137 | PDHA1 | c.385G>C (p.Gly129Arg) c.364G>C (p.Gly122Arg) c.448G>C (p.Gly150Arg) c.478G>C (p.Gly160Arg) n.466G>C c.499G>C (p.Gly167Arg) | |
| X | g.19351353G= | CA2418222116 | PDHA1 | c.385G= (p.Gly129=) c.364G= (p.Gly122=) c.448G= (p.Gly150=) c.478G= (p.Gly160=) n.466G= c.499G= (p.Gly167=) | |
| X | g.19351353G>T | CA412391139 | PDHA1 | c.385G>T (p.Gly129Cys) c.364G>T (p.Gly122Cys) c.448G>T (p.Gly150Cys) c.478G>T (p.Gly160Cys) n.466G>T c.499G>T (p.Gly167Cys) | |
| X | g.19351354G>A | CA412391142 | PDHA1 | c.386G>A (p.Gly129Asp) c.365G>A (p.Gly122Asp) c.449G>A (p.Gly150Asp) c.479G>A (p.Gly160Asp) n.467G>A c.500G>A (p.Gly167Asp) | |
| X | g.19351354G>C | CA412391144 | PDHA1 | c.386G>C (p.Gly129Ala) c.365G>C (p.Gly122Ala) c.449G>C (p.Gly150Ala) c.479G>C (p.Gly160Ala) n.467G>C c.500G>C (p.Gly167Ala) | |
| X | g.19351354G>T | CA412391146 | PDHA1 | c.386G>T (p.Gly129Val) c.365G>T (p.Gly122Val) c.449G>T (p.Gly150Val) c.479G>T (p.Gly160Val) n.467G>T c.500G>T (p.Gly167Val) | |
| X | g.19351355C>A | CA515485567 | PDHA1 | c.387C>A (p.Gly129=) c.366C>A (p.Gly122=) c.450C>A (p.Gly150=) c.480C>A (p.Gly160=) n.468C>A c.501C>A (p.Gly167=) | |
| X | g.19351355C>G | CA515485568 | PDHA1 | c.387C>G (p.Gly129=) c.366C>G (p.Gly122=) c.450C>G (p.Gly150=) c.480C>G (p.Gly160=) n.468C>G c.501C>G (p.Gly167=) | |
| X | g.19351355C>T | CA515485570 | PDHA1 | c.387C>T (p.Gly129=) c.366C>T (p.Gly122=) c.450C>T (p.Gly150=) c.480C>T (p.Gly160=) n.468C>T c.501C>T (p.Gly167=) | |
| X | g.19351356T>A | CA412391147 | PDHA1 | c.388T>A (p.Phe130Ile) c.367T>A (p.Phe123Ile) c.451T>A (p.Phe151Ile) c.481T>A (p.Phe161Ile) n.469T>A c.502T>A (p.Phe168Ile) | |
| X | g.19351356T>C | CA412391150 | PDHA1 | c.388T>C (p.Phe130Leu) c.367T>C (p.Phe123Leu) c.451T>C (p.Phe151Leu) c.481T>C (p.Phe161Leu) n.469T>C c.502T>C (p.Phe168Leu) | |
| X | g.19351356T>G | CA412391152 | PDHA1 | c.388T>G (p.Phe130Val) c.367T>G (p.Phe123Val) c.451T>G (p.Phe151Val) c.481T>G (p.Phe161Val) n.469T>G c.502T>G (p.Phe168Val) | |
| X | g.19351357T>A | CA412391154 | PDHA1 | c.389T>A (p.Phe130Tyr) c.368T>A (p.Phe123Tyr) c.452T>A (p.Phe151Tyr) c.482T>A (p.Phe161Tyr) n.470T>A c.503T>A (p.Phe168Tyr) | |
| X | g.19351357T>C | CA412391156 | PDHA1 | c.389T>C (p.Phe130Ser) c.368T>C (p.Phe123Ser) c.452T>C (p.Phe151Ser) c.482T>C (p.Phe161Ser) n.470T>C c.503T>C (p.Phe168Ser) | |
| X | g.19351357T>G | CA412391158 | PDHA1 | c.389T>G (p.Phe130Cys) c.368T>G (p.Phe123Cys) c.452T>G (p.Phe151Cys) c.482T>G (p.Phe161Cys) n.470T>G c.503T>G (p.Phe168Cys) | |
| X | g.19351358T>A | CA412391162 | PDHA1 | c.390T>A (p.Phe130Leu) c.369T>A (p.Phe123Leu) c.453T>A (p.Phe151Leu) c.483T>A (p.Phe161Leu) n.471T>A c.504T>A (p.Phe168Leu) | |
| X | g.19351358T>C | CA515485577 | PDHA1 | c.390T>C (p.Phe130=) c.369T>C (p.Phe123=) c.453T>C (p.Phe151=) c.483T>C (p.Phe161=) n.471T>C c.504T>C (p.Phe168=) | gnomAD v4 |
| X | g.19351358T>G | CA412391160 | PDHA1 | c.390T>G (p.Phe130Leu) c.369T>G (p.Phe123Leu) c.453T>G (p.Phe151Leu) c.483T>G (p.Phe161Leu) n.471T>G c.504T>G (p.Phe168Leu) | |
| X | g.19351359A>C | CA412391165 | PDHA1 | c.391A>C (p.Thr131Pro) c.370A>C (p.Thr124Pro) c.454A>C (p.Thr152Pro) c.484A>C (p.Thr162Pro) n.472A>C c.505A>C (p.Thr169Pro) | |
| X | g.19351359A>G | CA412391166 | PDHA1 | c.391A>G (p.Thr131Ala) c.370A>G (p.Thr124Ala) c.454A>G (p.Thr152Ala) c.484A>G (p.Thr162Ala) n.472A>G c.505A>G (p.Thr169Ala) | |
| X | g.19351359A>T | CA412391168 | PDHA1 | c.391A>T (p.Thr131Ser) c.370A>T (p.Thr124Ser) c.454A>T (p.Thr152Ser) c.484A>T (p.Thr162Ser) n.472A>T c.505A>T (p.Thr169Ser) | |
| X | g.19351360C>A | CA412391171 | PDHA1 | c.392C>A (p.Thr131Asn) c.371C>A (p.Thr124Asn) c.455C>A (p.Thr152Asn) c.485C>A (p.Thr162Asn) n.473C>A c.506C>A (p.Thr169Asn) | |
| X | g.19351360C>G | CA412391172 | PDHA1 | c.392C>G (p.Thr131Ser) c.371C>G (p.Thr124Ser) c.455C>G (p.Thr152Ser) c.485C>G (p.Thr162Ser) n.473C>G c.506C>G (p.Thr169Ser) | |
| X | g.19351360C>T | CA412391174 | PDHA1 | c.392C>T (p.Thr131Ile) c.371C>T (p.Thr124Ile) c.455C>T (p.Thr152Ile) c.485C>T (p.Thr162Ile) n.473C>T c.506C>T (p.Thr169Ile) | |
| X | g.19351361T>A | CA515485588 | PDHA1 | c.393T>A (p.Thr131=) c.372T>A (p.Thr124=) c.456T>A (p.Thr152=) c.486T>A (p.Thr162=) n.474T>A c.507T>A (p.Thr169=) | |
| X | g.19351361T>C | CA515485590 | PDHA1 | c.393T>C (p.Thr131=) c.372T>C (p.Thr124=) c.456T>C (p.Thr152=) c.486T>C (p.Thr162=) n.474T>C c.507T>C (p.Thr169=) | |
| X | g.19351361T>G | CA515485592 | PDHA1 | c.393T>G (p.Thr131=) c.372T>G (p.Thr124=) c.456T>G (p.Thr152=) c.486T>G (p.Thr162=) n.474T>G c.507T>G (p.Thr169=) | |
| X | g.19351362T>A | CA412391179 | PDHA1 | c.394T>A (p.Phe132Ile) c.373T>A (p.Phe125Ile) c.457T>A (p.Phe153Ile) c.487T>A (p.Phe163Ile) n.475T>A c.508T>A (p.Phe170Ile) | |
| X | g.19351362T>C | CA412391177 | PDHA1 | c.394T>C (p.Phe132Leu) c.373T>C (p.Phe125Leu) c.457T>C (p.Phe153Leu) c.487T>C (p.Phe163Leu) n.475T>C c.508T>C (p.Phe170Leu) | gnomAD v4 |
| X | g.19351362T>G | CA412391178 | PDHA1 | c.394T>G (p.Phe132Val) c.373T>G (p.Phe125Val) c.457T>G (p.Phe153Val) c.487T>G (p.Phe163Val) n.475T>G c.508T>G (p.Phe170Val) | |
| X | g.19351363T>A | CA412391180 | PDHA1 | c.395T>A (p.Phe132Tyr) c.374T>A (p.Phe125Tyr) c.458T>A (p.Phe153Tyr) c.488T>A (p.Phe163Tyr) n.476T>A c.509T>A (p.Phe170Tyr) | |
| X | g.19351363T>C | CA412391181 | PDHA1 | c.395T>C (p.Phe132Ser) c.374T>C (p.Phe125Ser) c.458T>C (p.Phe153Ser) c.488T>C (p.Phe163Ser) n.476T>C c.509T>C (p.Phe170Ser) | |
| X | g.19351363T>G | CA412391183 | PDHA1 | c.395T>G (p.Phe132Cys) c.374T>G (p.Phe125Cys) c.458T>G (p.Phe153Cys) c.488T>G (p.Phe163Cys) n.476T>G c.509T>G (p.Phe170Cys) | |
| X | g.19351364C>A | CA412391185 | PDHA1 | c.396C>A (p.Phe132Leu) c.375C>A (p.Phe125Leu) c.459C>A (p.Phe153Leu) c.489C>A (p.Phe163Leu) n.477C>A c.510C>A (p.Phe170Leu) | |
| X | g.19351364C= | CA2418222117 | PDHA1 | c.396C= (p.Phe132=) c.375C= (p.Phe125=) c.459C= (p.Phe153=) c.489C= (p.Phe163=) n.477C= c.510C= (p.Phe170=) | |
| X | g.19351364C>G | CA412391187 | PDHA1 | c.396C>G (p.Phe132Leu) c.375C>G (p.Phe125Leu) c.459C>G (p.Phe153Leu) c.489C>G (p.Phe163Leu) n.477C>G c.510C>G (p.Phe170Leu) | |
| X | g.19351364C>T | CA515485602 | PDHA1 | c.396C>T (p.Phe132=) c.375C>T (p.Phe125=) c.459C>T (p.Phe153=) c.489C>T (p.Phe163=) n.477C>T c.510C>T (p.Phe170=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19351365_19351366del | CA2579566225 | PDHA1 | c.397_398del (p.Thr133ProfsTer21) c.376_377del (p.Thr126ProfsTer21) c.460_461del (p.Thr154ProfsTer21) c.490_491del (p.Thr164ProfsTer21) c.376_377del (p.Thr126ProfsTer?) c.376_377del (p.Thr126ProfsTer23) n.478_479del c.511_512del (p.Thr171ProfsTer21) | |
| X | g.19351365A>C | CA412391189 | PDHA1 | c.397A>C (p.Thr133Pro) c.376A>C (p.Thr126Pro) c.460A>C (p.Thr154Pro) c.490A>C (p.Thr164Pro) n.478A>C c.511A>C (p.Thr171Pro) | |
| X | g.19351365A>G | CA412391193 | PDHA1 | c.397A>G (p.Thr133Ala) c.376A>G (p.Thr126Ala) c.460A>G (p.Thr154Ala) c.490A>G (p.Thr164Ala) n.478A>G c.511A>G (p.Thr171Ala) | gnomAD v4 |
| X | g.19351365A>T | CA412391191 | PDHA1 | c.397A>T (p.Thr133Ser) c.376A>T (p.Thr126Ser) c.460A>T (p.Thr154Ser) c.490A>T (p.Thr164Ser) n.478A>T c.511A>T (p.Thr171Ser) | |
| X | g.19351366C>A | CA412391196 | PDHA1 | c.398C>A (p.Thr133Asn) c.377C>A (p.Thr126Asn) c.461C>A (p.Thr154Asn) c.491C>A (p.Thr164Asn) n.479C>A c.512C>A (p.Thr171Asn) | |
| X | g.19351366C>G | CA412391198 | PDHA1 | c.398C>G (p.Thr133Ser) c.377C>G (p.Thr126Ser) c.461C>G (p.Thr154Ser) c.491C>G (p.Thr164Ser) n.479C>G c.512C>G (p.Thr171Ser) | |
| X | g.19351366C>T | CA412391200 | PDHA1 | c.398C>T (p.Thr133Ile) c.377C>T (p.Thr126Ile) c.461C>T (p.Thr154Ile) c.491C>T (p.Thr164Ile) n.479C>T c.512C>T (p.Thr171Ile) | |
| X | g.19351367C>A | CA515485610 | PDHA1 | c.399C>A (p.Thr133=) c.378C>A (p.Thr126=) c.462C>A (p.Thr154=) c.492C>A (p.Thr164=) n.480C>A c.513C>A (p.Thr171=) | |
| X | g.19351367C= | CA2418222118 | PDHA1 | c.399C= (p.Thr133=) c.378C= (p.Thr126=) c.462C= (p.Thr154=) c.492C= (p.Thr164=) n.480C= c.513C= (p.Thr171=) | |
| X | g.19351367C>G | CA515485611 | PDHA1 | c.399C>G (p.Thr133=) c.378C>G (p.Thr126=) c.462C>G (p.Thr154=) c.492C>G (p.Thr164=) n.480C>G c.513C>G (p.Thr171=) | dbSNP |
| X | g.19351367C>T | CA515485613 | PDHA1 | c.399C>T (p.Thr133=) c.378C>T (p.Thr126=) c.462C>T (p.Thr154=) c.492C>T (p.Thr164=) n.480C>T c.513C>T (p.Thr171=) | |
| X | g.19351368C>A | CA515485615 | PDHA1 | c.400C>A (p.Arg134=) c.379C>A (p.Arg127=) c.463C>A (p.Arg155=) c.493C>A (p.Arg165=) n.481C>A c.514C>A (p.Arg172=) | |
| X | g.19351368C= | CA2418222119 | PDHA1 | c.400C= (p.Arg134=) c.379C= (p.Arg127=) c.463C= (p.Arg155=) c.493C= (p.Arg165=) n.481C= c.514C= (p.Arg172=) | |
| X | g.19351368C>G | CA412391201 | PDHA1 | c.400C>G (p.Arg134Gly) c.379C>G (p.Arg127Gly) c.463C>G (p.Arg155Gly) c.493C>G (p.Arg165Gly) n.481C>G c.514C>G (p.Arg172Gly) | |
| X | g.19351368C>T | CA321249 | PDHA1 | c.400C>T (p.Arg134Trp) c.379C>T (p.Arg127Trp) c.463C>T (p.Arg155Trp) c.493C>T (p.Arg165Trp) n.481C>T c.514C>T (p.Arg172Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.19351369G>A | CA412391206 | PDHA1 | c.401G>A (p.Arg134Gln) c.380G>A (p.Arg127Gln) c.464G>A (p.Arg155Gln) c.494G>A (p.Arg165Gln) n.482G>A c.515G>A (p.Arg172Gln) | ClinVar dbSNP |
| X | g.19351369G>C | CA412391208 | PDHA1 | c.401G>C (p.Arg134Pro) c.380G>C (p.Arg127Pro) c.464G>C (p.Arg155Pro) c.494G>C (p.Arg165Pro) n.482G>C c.515G>C (p.Arg172Pro) | |
| X | g.19351369G= | CA2418222120 | PDHA1 | c.401G= (p.Arg134=) c.380G= (p.Arg127=) c.464G= (p.Arg155=) c.494G= (p.Arg165=) n.482G= c.515G= (p.Arg172=) | |
| X | g.19351369G>T | CA412391209 | PDHA1 | c.401G>T (p.Arg134Leu) c.380G>T (p.Arg127Leu) c.464G>T (p.Arg155Leu) c.494G>T (p.Arg165Leu) n.482G>T c.515G>T (p.Arg172Leu) | |
| X | g.19351370G>A | CA515485623 | PDHA1 | c.402G>A (p.Arg134=) c.381G>A (p.Arg127=) c.465G>A (p.Arg155=) c.495G>A (p.Arg165=) n.483G>A c.516G>A (p.Arg172=) | |
| X | g.19351370G>C | CA515485624 | PDHA1 | c.402G>C (p.Arg134=) c.381G>C (p.Arg127=) c.465G>C (p.Arg155=) c.495G>C (p.Arg165=) n.483G>C c.516G>C (p.Arg172=) | |
| X | g.19351370G>T | CA515485621 | PDHA1 | c.402G>T (p.Arg134=) c.381G>T (p.Arg127=) c.465G>T (p.Arg155=) c.495G>T (p.Arg165=) n.483G>T c.516G>T (p.Arg172=) | |
| X | g.19351371G>A | CA412391212 | PDHA1 | c.403G>A (p.Gly135Ser) c.382G>A (p.Gly128Ser) c.466G>A (p.Gly156Ser) c.496G>A (p.Gly166Ser) n.484G>A c.517G>A (p.Gly173Ser) | |
| X | g.19351371G>C | CA412391214 | PDHA1 | c.403G>C (p.Gly135Arg) c.382G>C (p.Gly128Arg) c.466G>C (p.Gly156Arg) c.496G>C (p.Gly166Arg) n.484G>C c.517G>C (p.Gly173Arg) | |
| X | g.19351371G>T | CA412391215 | PDHA1 | c.403G>T (p.Gly135Cys) c.382G>T (p.Gly128Cys) c.466G>T (p.Gly156Cys) c.496G>T (p.Gly166Cys) n.484G>T c.517G>T (p.Gly173Cys) | |
| X | g.19351372G>A | CA412391222 | PDHA1 | c.404G>A (p.Gly135Asp) c.383G>A (p.Gly128Asp) c.467G>A (p.Gly156Asp) c.497G>A (p.Gly166Asp) n.485G>A c.518G>A (p.Gly173Asp) | ClinVar |
| X | g.19351372G>C | CA412391220 | PDHA1 | c.404G>C (p.Gly135Ala) c.383G>C (p.Gly128Ala) c.467G>C (p.Gly156Ala) c.497G>C (p.Gly166Ala) n.485G>C c.518G>C (p.Gly173Ala) | |
| X | g.19351372G>T | CA412391218 | PDHA1 | c.404G>T (p.Gly135Val) c.383G>T (p.Gly128Val) c.467G>T (p.Gly156Val) c.497G>T (p.Gly166Val) n.485G>T c.518G>T (p.Gly173Val) | |
| X | g.19351373C>A | CA515485633 | PDHA1 | c.405C>A (p.Gly135=) c.384C>A (p.Gly128=) c.468C>A (p.Gly156=) c.498C>A (p.Gly166=) n.486C>A c.519C>A (p.Gly173=) | gnomAD v4 |
| X | g.19351373C>G | CA515485632 | PDHA1 | c.405C>G (p.Gly135=) c.384C>G (p.Gly128=) c.468C>G (p.Gly156=) c.498C>G (p.Gly166=) n.486C>G c.519C>G (p.Gly173=) | |
| X | g.19351373C>T | CA515485631 | PDHA1 | c.405C>T (p.Gly135=) c.384C>T (p.Gly128=) c.468C>T (p.Gly156=) c.498C>T (p.Gly166=) n.486C>T c.519C>T (p.Gly173=) | |
| X | g.19351374C>A | CA412391224 | PDHA1 | c.406C>A (p.Leu136Ile) c.385C>A (p.Leu129Ile) c.469C>A (p.Leu157Ile) c.499C>A (p.Leu167Ile) n.487C>A c.520C>A (p.Leu174Ile) | |
| X | g.19351374C>G | CA412391225 | PDHA1 | c.406C>G (p.Leu136Val) c.385C>G (p.Leu129Val) c.469C>G (p.Leu157Val) c.499C>G (p.Leu167Val) n.487C>G c.520C>G (p.Leu174Val) | |
| X | g.19351374C>T | CA412391227 | PDHA1 | c.406C>T (p.Leu136Phe) c.385C>T (p.Leu129Phe) c.469C>T (p.Leu157Phe) c.499C>T (p.Leu167Phe) n.487C>T c.520C>T (p.Leu174Phe) | |
| X | g.19351375T>A | CA412391229 | PDHA1 | c.407T>A (p.Leu136His) c.386T>A (p.Leu129His) c.470T>A (p.Leu157His) c.500T>A (p.Leu167His) n.488T>A c.521T>A (p.Leu174His) | |
| X | g.19351375T>C | CA412391230 | PDHA1 | c.407T>C (p.Leu136Pro) c.386T>C (p.Leu129Pro) c.470T>C (p.Leu157Pro) c.500T>C (p.Leu167Pro) n.488T>C c.521T>C (p.Leu174Pro) | |
| X | g.19351375T>G | CA412391232 | PDHA1 | c.407T>G (p.Leu136Arg) c.386T>G (p.Leu129Arg) c.470T>G (p.Leu157Arg) c.500T>G (p.Leu167Arg) n.488T>G c.521T>G (p.Leu174Arg) | |
| X | g.19351376T>A | CA515485639 | PDHA1 | c.408T>A (p.Leu136=) c.387T>A (p.Leu129=) c.471T>A (p.Leu157=) c.501T>A (p.Leu167=) n.489T>A c.522T>A (p.Leu174=) | |
| X | g.19351376T>C | CA515485641 | PDHA1 | c.408T>C (p.Leu136=) c.387T>C (p.Leu129=) c.471T>C (p.Leu157=) c.501T>C (p.Leu167=) n.489T>C c.522T>C (p.Leu174=) | gnomAD v4 |
| X | g.19351376T>G | CA515485640 | PDHA1 | c.408T>G (p.Leu136=) c.387T>G (p.Leu129=) c.471T>G (p.Leu157=) c.501T>G (p.Leu167=) n.489T>G c.522T>G (p.Leu174=) | |
| X | g.19351377T>A | CA412391235 | PDHA1 | c.409T>A (p.Ser137Thr) c.388T>A (p.Ser130Thr) c.472T>A (p.Ser158Thr) c.502T>A (p.Ser168Thr) n.490T>A c.523T>A (p.Ser175Thr) | |
| X | g.19351377T>C | CA412391236 | PDHA1 | c.409T>C (p.Ser137Pro) c.388T>C (p.Ser130Pro) c.472T>C (p.Ser158Pro) c.502T>C (p.Ser168Pro) n.490T>C c.523T>C (p.Ser175Pro) | |
| X | g.19351377T>G | CA412391238 | PDHA1 | c.409T>G (p.Ser137Ala) c.388T>G (p.Ser130Ala) c.472T>G (p.Ser158Ala) c.502T>G (p.Ser168Ala) n.490T>G c.523T>G (p.Ser175Ala) | |
| X | g.19351378C>A | CA412391240 | PDHA1 | c.410C>A (p.Ser137Tyr) c.389C>A (p.Ser130Tyr) c.473C>A (p.Ser158Tyr) c.503C>A (p.Ser168Tyr) n.491C>A c.524C>A (p.Ser175Tyr) | |
| X | g.19351378C>G | CA412391242 | PDHA1 | c.410C>G (p.Ser137Cys) c.389C>G (p.Ser130Cys) c.473C>G (p.Ser158Cys) c.503C>G (p.Ser168Cys) n.491C>G c.524C>G (p.Ser175Cys) | |
| X | g.19351378C>T | CA412391244 | PDHA1 | c.410C>T (p.Ser137Phe) c.389C>T (p.Ser130Phe) c.473C>T (p.Ser158Phe) c.503C>T (p.Ser168Phe) n.491C>T c.524C>T (p.Ser175Phe) | |
| X | g.19351379del | CA2738436662 | PDHA1 | c.411del (p.Val138SerfsTer?) c.390del (p.Val131SerfsTer?) c.474del (p.Val159SerfsTer?) c.504del (p.Val169SerfsTer?) n.492del c.525del (p.Val176SerfsTer?) | dbSNP |
| X | g.19351379C>A | CA515485647 | PDHA1 | c.411C>A (p.Ser137=) c.390C>A (p.Ser130=) c.474C>A (p.Ser158=) c.504C>A (p.Ser168=) n.492C>A c.525C>A (p.Ser175=) | |
| X | g.19351379C= | CA2418222121 | PDHA1 | c.411C= (p.Ser137=) c.390C= (p.Ser130=) c.474C= (p.Ser158=) c.504C= (p.Ser168=) n.492C= c.525C= (p.Ser175=) | |
| X | g.19351379C>G | CA515485649 | PDHA1 | c.411C>G (p.Ser137=) c.390C>G (p.Ser130=) c.474C>G (p.Ser158=) c.504C>G (p.Ser168=) n.492C>G c.525C>G (p.Ser175=) | |
| X | g.19351379C>T | CA10363028 | PDHA1 | c.411C>T (p.Ser137=) c.390C>T (p.Ser130=) c.474C>T (p.Ser158=) c.504C>T (p.Ser168=) n.492C>T c.525C>T (p.Ser175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351380G>A | CA10363029 | PDHA1 | c.412G>A (p.Val138Ile) c.391G>A (p.Val131Ile) c.475G>A (p.Val159Ile) c.505G>A (p.Val169Ile) n.493G>A c.526G>A (p.Val176Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351380G>C | CA412391249 | PDHA1 | c.412G>C (p.Val138Leu) c.391G>C (p.Val131Leu) c.475G>C (p.Val159Leu) c.505G>C (p.Val169Leu) n.493G>C c.526G>C (p.Val176Leu) | |
| X | g.19351380G= | CA2418222122 | PDHA1 | c.412G= (p.Val138=) c.391G= (p.Val131=) c.475G= (p.Val159=) c.505G= (p.Val169=) n.493G= c.526G= (p.Val176=) | |
| X | g.19351380G>T | CA412391248 | PDHA1 | c.412G>T (p.Val138Phe) c.391G>T (p.Val131Phe) c.475G>T (p.Val159Phe) c.505G>T (p.Val169Phe) n.493G>T c.526G>T (p.Val176Phe) | |
| X | g.19351381T>A | CA412391253 | PDHA1 | c.413T>A (p.Val138Asp) c.392T>A (p.Val131Asp) c.476T>A (p.Val159Asp) c.506T>A (p.Val169Asp) n.494T>A c.527T>A (p.Val176Asp) | |
| X | g.19351381T>C | CA412391252 | PDHA1 | c.413T>C (p.Val138Ala) c.392T>C (p.Val131Ala) c.476T>C (p.Val159Ala) c.506T>C (p.Val169Ala) n.494T>C c.527T>C (p.Val176Ala) | |
| X | g.19351381T>G | CA412391255 | PDHA1 | c.413T>G (p.Val138Gly) c.392T>G (p.Val131Gly) c.476T>G (p.Val159Gly) c.506T>G (p.Val169Gly) n.494T>G c.527T>G (p.Val176Gly) | |
| X | g.19351382C>A | CA515485656 | PDHA1 | c.414C>A (p.Val138=) c.393C>A (p.Val131=) c.477C>A (p.Val159=) c.507C>A (p.Val169=) n.495C>A c.528C>A (p.Val176=) | |
| X | g.19351382C>G | CA515485658 | PDHA1 | c.414C>G (p.Val138=) c.393C>G (p.Val131=) c.477C>G (p.Val159=) c.507C>G (p.Val169=) n.495C>G c.528C>G (p.Val176=) | |
| X | g.19351382C>T | CA515485660 | PDHA1 | c.414C>T (p.Val138=) c.393C>T (p.Val131=) c.477C>T (p.Val159=) c.507C>T (p.Val169=) n.495C>T c.528C>T (p.Val176=) | |
| X | g.19351383del | CA2819936434 | PDHA1 | c.415del (p.Arg139GlufsTer?) c.394del (p.Arg132GlufsTer?) c.478del (p.Arg160GlufsTer?) c.508del (p.Arg170GlufsTer?) n.496del c.529del (p.Arg177GlufsTer?) | |
| X | g.19351383C>A | CA515485661 | PDHA1 | c.415C>A (p.Arg139=) c.394C>A (p.Arg132=) c.478C>A (p.Arg160=) c.508C>A (p.Arg170=) n.496C>A c.529C>A (p.Arg177=) | |
| X | g.19351383C= | CA2418222123 | PDHA1 | c.415C= (p.Arg139=) c.394C= (p.Arg132=) c.478C= (p.Arg160=) c.508C= (p.Arg170=) n.496C= c.529C= (p.Arg177=) | |
| X | g.19351383C>G | CA412391259 | PDHA1 | c.415C>G (p.Arg139Gly) c.394C>G (p.Arg132Gly) c.478C>G (p.Arg160Gly) c.508C>G (p.Arg170Gly) n.496C>G c.529C>G (p.Arg177Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351383C>T | CA412391261 | PDHA1 | c.415C>T (p.Arg139Ter) c.394C>T (p.Arg132Ter) c.478C>T (p.Arg160Ter) c.508C>T (p.Arg170Ter) n.496C>T c.529C>T (p.Arg177Ter) | |
| X | g.19351384G>A | CA412391264 | PDHA1 | c.416G>A (p.Arg139Gln) c.395G>A (p.Arg132Gln) c.479G>A (p.Arg160Gln) c.509G>A (p.Arg170Gln) n.497G>A c.530G>A (p.Arg177Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351384G>C | CA412391266 | PDHA1 | c.416G>C (p.Arg139Pro) c.395G>C (p.Arg132Pro) c.479G>C (p.Arg160Pro) c.509G>C (p.Arg170Pro) n.497G>C c.530G>C (p.Arg177Pro) | |
| X | g.19351384G= | CA2418222124 | PDHA1 | c.416G= (p.Arg139=) c.395G= (p.Arg132=) c.479G= (p.Arg160=) c.509G= (p.Arg170=) n.497G= c.530G= (p.Arg177=) | |
| X | g.19351384G>T | CA412391269 | PDHA1 | c.416G>T (p.Arg139Leu) c.395G>T (p.Arg132Leu) c.479G>T (p.Arg160Leu) c.509G>T (p.Arg170Leu) n.497G>T c.530G>T (p.Arg177Leu) | |
| X | g.19351385A= | CA2418222125 | PDHA1 | c.417A= (p.Arg139=) c.396A= (p.Arg132=) c.480A= (p.Arg160=) c.510A= (p.Arg170=) n.498A= c.531A= (p.Arg177=) | |
| X | g.19351385A>C | CA10363030 | PDHA1 | c.417A>C (p.Arg139=) c.396A>C (p.Arg132=) c.480A>C (p.Arg160=) c.510A>C (p.Arg170=) n.498A>C c.531A>C (p.Arg177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351385A>G | CA515485668 | PDHA1 | c.417A>G (p.Arg139=) c.396A>G (p.Arg132=) c.480A>G (p.Arg160=) c.510A>G (p.Arg170=) n.498A>G c.531A>G (p.Arg177=) | |
| X | g.19351385A>T | CA515485670 | PDHA1 | c.417A>T (p.Arg139=) c.396A>T (p.Arg132=) c.480A>T (p.Arg160=) c.510A>T (p.Arg170=) n.498A>T c.531A>T (p.Arg177=) | |
| X | g.19351386G>A | CA412391283 | PDHA1 | c.418G>A (p.Glu140Lys) c.397G>A (p.Glu133Lys) c.481G>A (p.Glu161Lys) c.511G>A (p.Glu171Lys) n.499G>A c.532G>A (p.Glu178Lys) | ClinVar |
| X | g.19351386G>C | CA412391277 | PDHA1 | c.418G>C (p.Glu140Gln) c.397G>C (p.Glu133Gln) c.481G>C (p.Glu161Gln) c.511G>C (p.Glu171Gln) n.499G>C c.532G>C (p.Glu178Gln) | |
| X | g.19351386G= | CA2418222126 | PDHA1 | c.418G= (p.Glu140=) c.397G= (p.Glu133=) c.481G= (p.Glu161=) c.511G= (p.Glu171=) n.499G= c.532G= (p.Glu178=) | |
| X | g.19351386G>T | CA412391280 | PDHA1 | c.418G>T (p.Glu140Ter) c.397G>T (p.Glu133Ter) c.481G>T (p.Glu161Ter) c.511G>T (p.Glu171Ter) n.499G>T c.532G>T (p.Glu178Ter) | dbSNP |
| X | g.19351387A>C | CA412391287 | PDHA1 | c.419A>C (p.Glu140Ala) c.398A>C (p.Glu133Ala) c.482A>C (p.Glu161Ala) c.512A>C (p.Glu171Ala) n.500A>C c.533A>C (p.Glu178Ala) | |
| X | g.19351387A>G | CA412391290 | PDHA1 | c.419A>G (p.Glu140Gly) c.398A>G (p.Glu133Gly) c.482A>G (p.Glu161Gly) c.512A>G (p.Glu171Gly) n.500A>G c.533A>G (p.Glu178Gly) | |
| X | g.19351387A>T | CA412391293 | PDHA1 | c.419A>T (p.Glu140Val) c.398A>T (p.Glu133Val) c.482A>T (p.Glu161Val) c.512A>T (p.Glu171Val) n.500A>T c.533A>T (p.Glu178Val) | |
| X | g.19351388A>C | CA412391297 | PDHA1 | c.420A>C (p.Glu140Asp) c.399A>C (p.Glu133Asp) c.483A>C (p.Glu161Asp) c.513A>C (p.Glu171Asp) n.501A>C c.534A>C (p.Glu178Asp) | |
| X | g.19351388A>G | CA515485677 | PDHA1 | c.420A>G (p.Glu140=) c.399A>G (p.Glu133=) c.483A>G (p.Glu161=) c.513A>G (p.Glu171=) n.501A>G c.534A>G (p.Glu178=) | |
| X | g.19351388A>T | CA412391300 | PDHA1 | c.420A>T (p.Glu140Asp) c.399A>T (p.Glu133Asp) c.483A>T (p.Glu161Asp) c.513A>T (p.Glu171Asp) n.501A>T c.534A>T (p.Glu178Asp) | |
| X | g.19351389A>C | CA412391304 | PDHA1 | c.421A>C (p.Ile141Leu) c.400A>C (p.Ile134Leu) c.484A>C (p.Ile162Leu) c.514A>C (p.Ile172Leu) n.502A>C c.535A>C (p.Ile179Leu) | |
| X | g.19351389A>G | CA412391310 | PDHA1 | c.421A>G (p.Ile141Val) c.400A>G (p.Ile134Val) c.484A>G (p.Ile162Val) c.514A>G (p.Ile172Val) n.502A>G c.535A>G (p.Ile179Val) | |
| X | g.19351389A>T | CA412391307 | PDHA1 | c.421A>T (p.Ile141Phe) c.400A>T (p.Ile134Phe) c.484A>T (p.Ile162Phe) c.514A>T (p.Ile172Phe) n.502A>T c.535A>T (p.Ile179Phe) | |
| X | g.19351390T>A | CA412391312 | PDHA1 | c.422T>A (p.Ile141Asn) c.401T>A (p.Ile134Asn) c.485T>A (p.Ile162Asn) c.515T>A (p.Ile172Asn) n.503T>A c.536T>A (p.Ile179Asn) | |
| X | g.19351390T>C | CA412391314 | PDHA1 | c.422T>C (p.Ile141Thr) c.401T>C (p.Ile134Thr) c.485T>C (p.Ile162Thr) c.515T>C (p.Ile172Thr) n.503T>C c.536T>C (p.Ile179Thr) | |
| X | g.19351390T>G | CA412391322 | PDHA1 | c.422T>G (p.Ile141Ser) c.401T>G (p.Ile134Ser) c.485T>G (p.Ile162Ser) c.515T>G (p.Ile172Ser) n.503T>G c.536T>G (p.Ile179Ser) | |
| X | g.19351391T>A | CA515485687 | PDHA1 | c.423T>A (p.Ile141=) c.402T>A (p.Ile134=) c.486T>A (p.Ile162=) c.516T>A (p.Ile172=) n.504T>A c.537T>A (p.Ile179=) | |
| X | g.19351391T>C | CA515485684 | PDHA1 | c.423T>C (p.Ile141=) c.402T>C (p.Ile134=) c.486T>C (p.Ile162=) c.516T>C (p.Ile172=) n.504T>C c.537T>C (p.Ile179=) | gnomAD v4 |
| X | g.19351391T>G | CA412391325 | PDHA1 | c.423T>G (p.Ile141Met) c.402T>G (p.Ile134Met) c.486T>G (p.Ile162Met) c.516T>G (p.Ile172Met) n.504T>G c.537T>G (p.Ile179Met) | |
| X | g.19351392C>A | CA412391331 | PDHA1 | c.424C>A (p.Leu142Ile) c.403C>A (p.Leu135Ile) c.487C>A (p.Leu163Ile) c.517C>A (p.Leu173Ile) n.505C>A c.538C>A (p.Leu180Ile) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351392C>G | CA412391333 | PDHA1 | c.424C>G (p.Leu142Val) c.403C>G (p.Leu135Val) c.487C>G (p.Leu163Val) c.517C>G (p.Leu173Val) n.505C>G c.538C>G (p.Leu180Val) | |
| X | g.19351392C>T | CA412391338 | PDHA1 | c.424C>T (p.Leu142Phe) c.403C>T (p.Leu135Phe) c.487C>T (p.Leu163Phe) c.517C>T (p.Leu173Phe) n.505C>T c.538C>T (p.Leu180Phe) | |
| X | g.19351393T>A | CA412391342 | PDHA1 | c.425T>A (p.Leu142His) c.404T>A (p.Leu135His) c.488T>A (p.Leu163His) c.518T>A (p.Leu173His) n.506T>A c.539T>A (p.Leu180His) | |
| X | g.19351393T>C | CA412391344 | PDHA1 | c.425T>C (p.Leu142Pro) c.404T>C (p.Leu135Pro) c.488T>C (p.Leu163Pro) c.518T>C (p.Leu173Pro) n.506T>C c.539T>C (p.Leu180Pro) | |
| X | g.19351393T>G | CA412391347 | PDHA1 | c.425T>G (p.Leu142Arg) c.404T>G (p.Leu135Arg) c.488T>G (p.Leu163Arg) c.518T>G (p.Leu173Arg) n.506T>G c.539T>G (p.Leu180Arg) | |
| X | g.19351394C>A | CA515485693 | PDHA1 | c.426C>A (p.Leu142=) c.405C>A (p.Leu135=) c.489C>A (p.Leu163=) c.519C>A (p.Leu173=) n.507C>A c.540C>A (p.Leu180=) | |
| X | g.19351394C= | CA2418222127 | PDHA1 | c.426C= (p.Leu142=) c.405C= (p.Leu135=) c.489C= (p.Leu163=) c.519C= (p.Leu173=) n.507C= c.540C= (p.Leu180=) | |
| X | g.19351394C>G | CA515485695 | PDHA1 | c.426C>G (p.Leu142=) c.405C>G (p.Leu135=) c.489C>G (p.Leu163=) c.519C>G (p.Leu173=) n.507C>G c.540C>G (p.Leu180=) | gnomAD v4 |
| X | g.19351394C>T | CA515485696 | PDHA1 | c.426C>T (p.Leu142=) c.405C>T (p.Leu135=) c.489C>T (p.Leu163=) c.519C>T (p.Leu173=) n.507C>T c.540C>T (p.Leu180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.19351395G>A | CA10363031 | PDHA1 | c.427G>A (p.Ala143Thr) c.406G>A (p.Ala136Thr) c.490G>A (p.Ala164Thr) c.520G>A (p.Ala174Thr) n.508G>A c.541G>A (p.Ala181Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351395G>C | CA412391354 | PDHA1 | c.427G>C (p.Ala143Pro) c.406G>C (p.Ala136Pro) c.490G>C (p.Ala164Pro) c.520G>C (p.Ala174Pro) n.508G>C c.541G>C (p.Ala181Pro) | |
| X | g.19351395G= | CA2418222128 | PDHA1 | c.427G= (p.Ala143=) c.406G= (p.Ala136=) c.490G= (p.Ala164=) c.520G= (p.Ala174=) n.508G= c.541G= (p.Ala181=) | |
| X | g.19351395G>T | CA412391351 | PDHA1 | c.427G>T (p.Ala143Ser) c.406G>T (p.Ala136Ser) c.490G>T (p.Ala164Ser) c.520G>T (p.Ala174Ser) n.508G>T c.541G>T (p.Ala181Ser) | |
| X | g.19351396C>A | CA412391360 | PDHA1 | c.428C>A (p.Ala143Glu) c.407C>A (p.Ala136Glu) c.491C>A (p.Ala164Glu) c.521C>A (p.Ala174Glu) n.509C>A c.542C>A (p.Ala181Glu) | |
| X | g.19351396C>G | CA412391363 | PDHA1 | c.428C>G (p.Ala143Gly) c.407C>G (p.Ala136Gly) c.491C>G (p.Ala164Gly) c.521C>G (p.Ala174Gly) n.509C>G c.542C>G (p.Ala181Gly) | gnomAD v4 |
| X | g.19351396C>T | CA412391368 | PDHA1 | c.428C>T (p.Ala143Val) c.407C>T (p.Ala136Val) c.491C>T (p.Ala164Val) c.521C>T (p.Ala174Val) n.509C>T c.542C>T (p.Ala181Val) | |
| X | g.19351397A>C | CA515485703 | PDHA1 | c.429A>C (p.Ala143=) c.408A>C (p.Ala136=) c.492A>C (p.Ala164=) c.522A>C (p.Ala174=) n.510A>C c.543A>C (p.Ala181=) | |
| X | g.19351397A>G | CA515485705 | PDHA1 | c.429A>G (p.Ala143=) c.408A>G (p.Ala136=) c.492A>G (p.Ala164=) c.522A>G (p.Ala174=) n.510A>G c.543A>G (p.Ala181=) | |
| X | g.19351397A>T | CA515485707 | PDHA1 | c.429A>T (p.Ala143=) c.408A>T (p.Ala136=) c.492A>T (p.Ala164=) c.522A>T (p.Ala174=) n.510A>T c.543A>T (p.Ala181=) | |
| X | g.19351398G>A | CA412391372 | PDHA1 | c.430G>A (p.Glu144Lys) c.409G>A (p.Glu137Lys) c.493G>A (p.Glu165Lys) c.523G>A (p.Glu175Lys) n.511G>A c.544G>A (p.Glu182Lys) | ClinVar dbSNP |
| X | g.19351398G>C | CA412391376 | PDHA1 | c.430G>C (p.Glu144Gln) c.409G>C (p.Glu137Gln) c.493G>C (p.Glu165Gln) c.523G>C (p.Glu175Gln) n.511G>C c.544G>C (p.Glu182Gln) | |
| X | g.19351398G= | CA2418222129 | PDHA1 | c.430G= (p.Glu144=) c.409G= (p.Glu137=) c.493G= (p.Glu165=) c.523G= (p.Glu175=) n.511G= c.544G= (p.Glu182=) | |
| X | g.19351398G>T | CA412391378 | PDHA1 | c.430G>T (p.Glu144Ter) c.409G>T (p.Glu137Ter) c.493G>T (p.Glu165Ter) c.523G>T (p.Glu175Ter) n.511G>T c.544G>T (p.Glu182Ter) | |
| X | g.19351399A>C | CA412391388 | PDHA1 | c.431A>C (p.Glu144Ala) c.410A>C (p.Glu137Ala) c.494A>C (p.Glu165Ala) c.524A>C (p.Glu175Ala) n.512A>C c.545A>C (p.Glu182Ala) | |
| X | g.19351399A>G | CA412391382 | PDHA1 | c.431A>G (p.Glu144Gly) c.410A>G (p.Glu137Gly) c.494A>G (p.Glu165Gly) c.524A>G (p.Glu175Gly) n.512A>G c.545A>G (p.Glu182Gly) | |
| X | g.19351399A>T | CA412391385 | PDHA1 | c.431A>T (p.Glu144Val) c.410A>T (p.Glu137Val) c.494A>T (p.Glu165Val) c.524A>T (p.Glu175Val) n.512A>T c.545A>T (p.Glu182Val) | |
| X | g.19351400G>A | CA515485713 | PDHA1 | c.432G>A (p.Glu144=) c.411G>A (p.Glu137=) c.495G>A (p.Glu165=) c.525G>A (p.Glu175=) n.513G>A c.546G>A (p.Glu182=) | ClinVar dbSNP gnomAD v2 |
| X | g.19351400G>C | CA412391392 | PDHA1 | c.432G>C (p.Glu144Asp) c.411G>C (p.Glu137Asp) c.495G>C (p.Glu165Asp) c.525G>C (p.Glu175Asp) n.513G>C c.546G>C (p.Glu182Asp) | |
| X | g.19351400G= | CA2418222130 | PDHA1 | c.432G= (p.Glu144=) c.411G= (p.Glu137=) c.495G= (p.Glu165=) c.525G= (p.Glu175=) n.513G= c.546G= (p.Glu182=) | |
| X | g.19351400G>T | CA412391394 | PDHA1 | c.432G>T (p.Glu144Asp) c.411G>T (p.Glu137Asp) c.495G>T (p.Glu165Asp) c.525G>T (p.Glu175Asp) n.513G>T c.546G>T (p.Glu182Asp) | |
| X | g.19351401C>A | CA412391397 | PDHA1 | c.433C>A (p.Leu145Ile) c.412C>A (p.Leu138Ile) c.496C>A (p.Leu166Ile) c.526C>A (p.Leu176Ile) n.514C>A c.547C>A (p.Leu183Ile) | |
| X | g.19351401C>G | CA412391399 | PDHA1 | c.433C>G (p.Leu145Val) c.412C>G (p.Leu138Val) c.496C>G (p.Leu166Val) c.526C>G (p.Leu176Val) n.514C>G c.547C>G (p.Leu183Val) | |
| X | g.19351401C>T | CA412391402 | PDHA1 | c.433C>T (p.Leu145Phe) c.412C>T (p.Leu138Phe) c.496C>T (p.Leu166Phe) c.526C>T (p.Leu176Phe) n.514C>T c.547C>T (p.Leu183Phe) | |
| X | g.19351402T>A | CA412391409 | PDHA1 | c.434T>A (p.Leu145His) c.413T>A (p.Leu138His) c.497T>A (p.Leu166His) c.527T>A (p.Leu176His) n.515T>A c.548T>A (p.Leu183His) | |
| X | g.19351402T>C | CA412391415 | PDHA1 | c.434T>C (p.Leu145Pro) c.413T>C (p.Leu138Pro) c.497T>C (p.Leu166Pro) c.527T>C (p.Leu176Pro) n.515T>C c.548T>C (p.Leu183Pro) | |
| X | g.19351402T>G | CA412391411 | PDHA1 | c.434T>G (p.Leu145Arg) c.413T>G (p.Leu138Arg) c.497T>G (p.Leu166Arg) c.527T>G (p.Leu176Arg) n.515T>G c.548T>G (p.Leu183Arg) | |
| X | g.19351403del | CA2579566226 | PDHA1 | c.435del (p.Thr146GlnfsTer?) c.414del (p.Thr139GlnfsTer?) c.498del (p.Thr167GlnfsTer?) c.528del (p.Thr177GlnfsTer?) n.516del c.549del (p.Thr184GlnfsTer?) | |
| X | g.19351403T>A | CA515485720 | PDHA1 | c.435T>A (p.Leu145=) c.414T>A (p.Leu138=) c.498T>A (p.Leu166=) c.528T>A (p.Leu176=) n.516T>A c.549T>A (p.Leu183=) | |
| X | g.19351403T>C | CA515485723 | PDHA1 | c.435T>C (p.Leu145=) c.414T>C (p.Leu138=) c.498T>C (p.Leu166=) c.528T>C (p.Leu176=) n.516T>C c.549T>C (p.Leu183=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351403T>G | CA515485722 | PDHA1 | c.435T>G (p.Leu145=) c.414T>G (p.Leu138=) c.498T>G (p.Leu166=) c.528T>G (p.Leu176=) n.516T>G c.549T>G (p.Leu183=) | |
| X | g.19351404A>C | CA412391421 | PDHA1 | c.436A>C (p.Thr146Pro) c.415A>C (p.Thr139Pro) c.499A>C (p.Thr167Pro) c.529A>C (p.Thr177Pro) n.517A>C c.550A>C (p.Thr184Pro) | |
| X | g.19351404A>G | CA412391423 | PDHA1 | c.436A>G (p.Thr146Ala) c.415A>G (p.Thr139Ala) c.499A>G (p.Thr167Ala) c.529A>G (p.Thr177Ala) n.517A>G c.550A>G (p.Thr184Ala) | |
| X | g.19351404A>T | CA412391426 | PDHA1 | c.436A>T (p.Thr146Ser) c.415A>T (p.Thr139Ser) c.499A>T (p.Thr167Ser) c.529A>T (p.Thr177Ser) n.517A>T c.550A>T (p.Thr184Ser) | |
| X | g.19351405C>A | CA412391431 | PDHA1 | c.437C>A (p.Thr146Lys) c.416C>A (p.Thr139Lys) c.500C>A (p.Thr167Lys) c.530C>A (p.Thr177Lys) n.518C>A c.551C>A (p.Thr184Lys) | gnomAD v4 |
| X | g.19351405C>G | CA412391433 | PDHA1 | c.437C>G (p.Thr146Arg) c.416C>G (p.Thr139Arg) c.500C>G (p.Thr167Arg) c.530C>G (p.Thr177Arg) n.518C>G c.551C>G (p.Thr184Arg) | |
| X | g.19351405C>T | CA412391436 | PDHA1 | c.437C>T (p.Thr146Ile) c.416C>T (p.Thr139Ile) c.500C>T (p.Thr167Ile) c.530C>T (p.Thr177Ile) n.518C>T c.551C>T (p.Thr184Ile) | |
| X | g.19351406A>C | CA515485729 | PDHA1 | c.438A>C (p.Thr146=) c.417A>C (p.Thr139=) c.501A>C (p.Thr167=) c.531A>C (p.Thr177=) n.519A>C c.552A>C (p.Thr184=) | |
| X | g.19351406A>G | CA515485731 | PDHA1 | c.438A>G (p.Thr146=) c.417A>G (p.Thr139=) c.501A>G (p.Thr167=) c.531A>G (p.Thr177=) n.519A>G c.552A>G (p.Thr184=) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351406A>T | CA515485733 | PDHA1 | c.438A>T (p.Thr146=) c.417A>T (p.Thr139=) c.501A>T (p.Thr167=) c.531A>T (p.Thr177=) n.519A>T c.552A>T (p.Thr184=) | |
| X | g.19351407G>A | CA412391441 | PDHA1 | c.439G>A (p.Gly147Arg) c.418G>A (p.Gly140Arg) c.502G>A (p.Gly168Arg) c.532G>A (p.Gly178Arg) c.418G>A (p.Gly140Ser) n.520G>A c.553G>A (p.Gly185Arg) | |
| X | g.19351407G>C | CA412391444 | PDHA1 | c.439G>C (p.Gly147Arg) c.418G>C (p.Gly140Arg) c.502G>C (p.Gly168Arg) c.532G>C (p.Gly178Arg) n.520G>C c.553G>C (p.Gly185Arg) | |
| X | g.19351407G>T | CA412391446 | PDHA1 | c.439G>T (p.Gly147Ter) c.418G>T (p.Gly140Ter) c.502G>T (p.Gly168Ter) c.532G>T (p.Gly178Ter) c.418G>T (p.Gly140Trp) c.418G>T (p.Gly140Cys) n.520G>T c.553G>T (p.Gly185Ter) | |
| X | g.19351408G>A | CA412391451 | PDHA1 | c.439+1G>A (n.439+1G>A) c.418+1G>A (n.418+1G>A) c.502+1G>A (n.502+1G>A) c.532+1G>A (n.532+1G>A) n.521G>A c.553+1G>A (n.553+1G>A) | |
| X | g.19351408G>C | CA412391453 | PDHA1 | c.439+1G>C (n.439+1G>C) c.418+1G>C (n.418+1G>C) c.502+1G>C (n.502+1G>C) c.532+1G>C (n.532+1G>C) n.521G>C c.553+1G>C (n.553+1G>C) | |
| X | g.19351408G>T | CA412391456 | PDHA1 | c.439+1G>T (n.439+1G>T) c.418+1G>T (n.418+1G>T) c.502+1G>T (n.502+1G>T) c.532+1G>T (n.532+1G>T) n.521G>T c.553+1G>T (n.553+1G>T) | |
| X | g.19351409T>A | CA412391466 | PDHA1 | c.439+2T>A (n.439+2T>A) c.418+2T>A (n.418+2T>A) c.502+2T>A (n.502+2T>A) c.532+2T>A (n.532+2T>A) n.522T>A c.553+2T>A (n.553+2T>A) | |
| X | g.19351409T>C | CA412391469 | PDHA1 | c.439+2T>C (n.439+2T>C) c.418+2T>C (n.418+2T>C) c.502+2T>C (n.502+2T>C) c.532+2T>C (n.532+2T>C) n.522T>C c.553+2T>C (n.553+2T>C) | |
| X | g.19351409T>G | CA412391464 | PDHA1 | c.439+2T>G (n.439+2T>G) c.418+2T>G (n.418+2T>G) c.502+2T>G (n.502+2T>G) c.532+2T>G (n.532+2T>G) n.522T>G c.553+2T>G (n.553+2T>G) | |
| X | g.19351411T>C | CA640521258 | PDHA1 | c.439+4T>C (n.439+4T>C) c.418+4T>C (n.418+4T>C) c.502+4T>C (n.502+4T>C) c.532+4T>C (n.532+4T>C) n.524T>C c.553+4T>C (n.553+4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351411T= | CA2418222131 | PDHA1 | c.439+4T= (n.439+4T=) c.418+4T= (n.418+4T=) c.502+4T= (n.502+4T=) c.532+4T= (n.532+4T=) n.524T= c.553+4T= (n.553+4T=) | |
| X | g.19351412G>C | CA2819936436 | PDHA1 | c.439+5G>C (n.439+5G>C) c.418+5G>C (n.418+5G>C) c.502+5G>C (n.502+5G>C) c.532+5G>C (n.532+5G>C) n.525G>C c.553+5G>C (n.553+5G>C) | |
| X | g.19351413C>A | CA2579566227 | PDHA1 | c.439+6C>A (n.439+6C>A) c.418+6C>A (n.418+6C>A) c.502+6C>A (n.502+6C>A) c.532+6C>A (n.532+6C>A) n.526C>A c.553+6C>A (n.553+6C>A) | |
| X | g.19351414T>C | CA2693249840 | PDHA1 | c.439+7T>C (n.439+7T>C) c.418+7T>C (n.418+7T>C) c.502+7T>C (n.502+7T>C) c.532+7T>C (n.532+7T>C) n.527T>C c.553+7T>C (n.553+7T>C) | gnomAD v4 |
| X | g.19351415G>A | CA10363032 | PDHA1 | c.439+8G>A (n.439+8G>A) c.418+8G>A (n.418+8G>A) c.502+8G>A (n.502+8G>A) c.532+8G>A (n.532+8G>A) n.528G>A c.553+8G>A (n.553+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351415G>C | CA873736538 | PDHA1 | c.439+8G>C (n.439+8G>C) c.418+8G>C (n.418+8G>C) c.502+8G>C (n.502+8G>C) c.532+8G>C (n.532+8G>C) n.528G>C c.553+8G>C (n.553+8G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.19351415G= | CA2418222132 | PDHA1 | c.439+8G= (n.439+8G=) c.418+8G= (n.418+8G=) c.502+8G= (n.502+8G=) c.532+8G= (n.532+8G=) n.528G= c.553+8G= (n.553+8G=) | |
| X | g.19351418_19351420del | CA2693249841 | PDHA1 | c.439+11_439+13del (n.439+11_439+13del) c.418+11_418+13del (n.418+11_418+13del) c.502+11_502+13del (n.502+11_502+13del) c.532+11_532+13del (n.532+11_532+13del) n.531_533del c.553+11_553+13del (n.553+11_553+13del) | gnomAD v4 |
| X | g.19351422del | CA2693249842 | PDHA1 | c.439+15del (n.439+15del) c.418+15del (n.418+15del) c.502+15del (n.502+15del) c.532+15del (n.532+15del) n.535del c.553+15del (n.553+15del) | gnomAD v4 |
| X | g.19351421T>A | CA2542855819 | PDHA1 | c.439+14T>A (n.439+14T>A) c.418+14T>A (n.418+14T>A) c.502+14T>A (n.502+14T>A) c.532+14T>A (n.532+14T>A) n.534T>A c.553+14T>A (n.553+14T>A) | |
| X | g.19351422T>A | CA2418222133 | PDHA1 | c.439+15T>A (n.439+15T>A) c.418+15T>A (n.418+15T>A) c.502+15T>A (n.502+15T>A) c.532+15T>A (n.532+15T>A) n.535T>A c.553+15T>A (n.553+15T>A) | dbSNP gnomAD v4 |
| X | g.19351422T>C | CA2819936438 | PDHA1 | c.439+15T>C (n.439+15T>C) c.418+15T>C (n.418+15T>C) c.502+15T>C (n.502+15T>C) c.532+15T>C (n.532+15T>C) n.535T>C c.553+15T>C (n.553+15T>C) | |
| X | g.19351422T= | CA2418222134 | PDHA1 | c.439+15T= (n.439+15T=) c.418+15T= (n.418+15T=) c.502+15T= (n.502+15T=) c.532+15T= (n.532+15T=) n.535T= c.553+15T= (n.553+15T=) | |
| X | g.19351424C>A | CA2693249843 | PDHA1 | c.439+17C>A (n.439+17C>A) c.418+17C>A (n.418+17C>A) c.502+17C>A (n.502+17C>A) c.532+17C>A (n.532+17C>A) n.537C>A c.553+17C>A (n.553+17C>A) | gnomAD v4 |
| X | g.19351426G>A | CA2693249844 | PDHA1 | c.439+19G>A (n.439+19G>A) c.418+19G>A (n.418+19G>A) c.502+19G>A (n.502+19G>A) c.532+19G>A (n.532+19G>A) n.539G>A c.553+19G>A (n.553+19G>A) | gnomAD v4 |
| X | g.19351426G>T | CA2506913892 | PDHA1 | c.439+19G>T (n.439+19G>T) c.418+19G>T (n.418+19G>T) c.502+19G>T (n.502+19G>T) c.532+19G>T (n.532+19G>T) n.539G>T c.553+19G>T (n.553+19G>T) | |
| X | g.19351428A>G | CA2693249845 | PDHA1 | c.439+21A>G (n.439+21A>G) c.418+21A>G (n.418+21A>G) c.502+21A>G (n.502+21A>G) c.532+21A>G (n.532+21A>G) n.541A>G c.553+21A>G (n.553+21A>G) | gnomAD v4 |
| X | g.19351433del | CA2693249846 | PDHA1 | c.439+26del (n.439+26del) c.418+26del (n.418+26del) c.502+26del (n.502+26del) c.532+26del (n.532+26del) n.546del c.553+26del (n.553+26del) | gnomAD v4 |
| X | g.19351432G>A | CA2418222136 | PDHA1 | c.439+25G>A (n.439+25G>A) c.418+25G>A (n.418+25G>A) c.502+25G>A (n.502+25G>A) c.532+25G>A (n.532+25G>A) n.545G>A c.553+25G>A (n.553+25G>A) | dbSNP gnomAD v4 |
| X | g.19351432G= | CA2418222135 | PDHA1 | c.439+25G= (n.439+25G=) c.418+25G= (n.418+25G=) c.502+25G= (n.502+25G=) c.532+25G= (n.532+25G=) n.545G= c.553+25G= (n.553+25G=) | |
| X | g.19351433G>A | CA2531052471 | PDHA1 | c.439+26G>A (n.439+26G>A) c.418+26G>A (n.418+26G>A) c.502+26G>A (n.502+26G>A) c.532+26G>A (n.532+26G>A) n.546G>A c.553+26G>A (n.553+26G>A) | gnomAD v4 |
| X | g.19351434A>G | CA2819936440 | PDHA1 | c.439+27A>G (n.439+27A>G) c.418+27A>G (n.418+27A>G) c.502+27A>G (n.502+27A>G) c.532+27A>G (n.532+27A>G) n.547A>G c.553+27A>G (n.553+27A>G) | |
| X | g.19351438G>A | CA2506127265 | PDHA1 | c.439+31G>A (n.439+31G>A) c.418+31G>A (n.418+31G>A) c.502+31G>A (n.502+31G>A) c.532+31G>A (n.532+31G>A) n.551G>A c.553+31G>A (n.553+31G>A) |