Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.19358895_19358914dup | CA10363159 | PDHA1 | c.921-21_921-2dup (n.921-21_921-2dup) c.*592-21_*592-2dup (n.*592-21_*592-2dup) c.984-21_984-2dup (n.984-21_984-2dup) c.1014-21_1014-2dup (n.1014-21_1014-2dup) n.695-21_695-2dup c.*232-21_*232-2dup (n.*232-21_*232-2dup) c.*355-21_*355-2dup (n.*355-21_*355-2dup) c.900-21_900-2dup (n.900-21_900-2dup) c.57-21_57-2dup (n.57-21_57-2dup) n.339-21_339-2dup n.328-21_328-2dup c.807-21_807-2dup (n.807-21_807-2dup) c.1035-21_1035-2dup (n.1035-21_1035-2dup) c.942-21_942-2dup (n.942-21_942-2dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19358904_19358952dup | CA2739268099 | PDHA1 | c.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 |
X | g.19358912A= | CA2418225213 | PDHA1 | c.921-4A= (n.921-4A=) c.*592-4A= (n.*592-4A=) c.984-4A= (n.984-4A=) c.1014-4A= (n.1014-4A=) n.695-4A= c.*232-4A= (n.*232-4A=) c.*355-4A= (n.*355-4A=) c.900-4A= (n.900-4A=) c.57-4A= (n.57-4A=) n.339-4A= n.328-4A= c.807-4A= (n.807-4A=) c.1035-4A= (n.1035-4A=) c.942-4A= (n.942-4A=) | |
X | g.19358912A>C | CA2418225214 | PDHA1 | c.921-4A>C (n.921-4A>C) c.*592-4A>C (n.*592-4A>C) c.984-4A>C (n.984-4A>C) c.1014-4A>C (n.1014-4A>C) n.695-4A>C c.*232-4A>C (n.*232-4A>C) c.*355-4A>C (n.*355-4A>C) c.900-4A>C (n.900-4A>C) c.57-4A>C (n.57-4A>C) n.339-4A>C n.328-4A>C c.807-4A>C (n.807-4A>C) c.1035-4A>C (n.1035-4A>C) c.942-4A>C (n.942-4A>C) | ClinVar dbSNP gnomAD v4 |
X | g.19358912A>G | CA640522571 | PDHA1 | c.921-4A>G (n.921-4A>G) c.*592-4A>G (n.*592-4A>G) c.984-4A>G (n.984-4A>G) c.1014-4A>G (n.1014-4A>G) n.695-4A>G c.*232-4A>G (n.*232-4A>G) c.*355-4A>G (n.*355-4A>G) c.900-4A>G (n.900-4A>G) c.57-4A>G (n.57-4A>G) n.339-4A>G n.328-4A>G c.807-4A>G (n.807-4A>G) c.1035-4A>G (n.1035-4A>G) c.942-4A>G (n.942-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19358912A>T | CA2693251099 | PDHA1 | c.921-4A>T (n.921-4A>T) c.*592-4A>T (n.*592-4A>T) c.984-4A>T (n.984-4A>T) c.1014-4A>T (n.1014-4A>T) n.695-4A>T c.*232-4A>T (n.*232-4A>T) c.*355-4A>T (n.*355-4A>T) c.900-4A>T (n.900-4A>T) c.57-4A>T (n.57-4A>T) n.339-4A>T n.328-4A>T c.807-4A>T (n.807-4A>T) c.1035-4A>T (n.1035-4A>T) c.942-4A>T (n.942-4A>T) | gnomAD v4 |
X | g.19358913_19358914dup | CA2693251098 | PDHA1 | c.921-3_921-2dup (n.921-3_921-2dup) c.*592-3_*592-2dup (n.*592-3_*592-2dup) c.984-3_984-2dup (n.984-3_984-2dup) c.1014-3_1014-2dup (n.1014-3_1014-2dup) n.695-3_695-2dup c.*232-3_*232-2dup (n.*232-3_*232-2dup) c.*355-3_*355-2dup (n.*355-3_*355-2dup) c.900-3_900-2dup (n.900-3_900-2dup) c.57-3_57-2dup (n.57-3_57-2dup) n.339-3_339-2dup n.328-3_328-2dup c.807-3_807-2dup (n.807-3_807-2dup) c.1035-3_1035-2dup (n.1035-3_1035-2dup) c.942-3_942-2dup (n.942-3_942-2dup) | gnomAD v4 |
X | g.19358913_19358933dup | CA121211 | PDHA1 | c.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 |
X | g.19358913T>C | CA873741895 | PDHA1 | c.921-3T>C (n.921-3T>C) c.*592-3T>C (n.*592-3T>C) c.984-3T>C (n.984-3T>C) c.1014-3T>C (n.1014-3T>C) n.695-3T>C c.*232-3T>C (n.*232-3T>C) c.*355-3T>C (n.*355-3T>C) c.900-3T>C (n.900-3T>C) c.57-3T>C (n.57-3T>C) n.339-3T>C n.328-3T>C c.807-3T>C (n.807-3T>C) c.1035-3T>C (n.1035-3T>C) c.942-3T>C (n.942-3T>C) | dbSNP gnomAD v4 |
X | g.19358913T= | CA2418225215 | PDHA1 | c.921-3T= (n.921-3T=) c.*592-3T= (n.*592-3T=) c.984-3T= (n.984-3T=) c.1014-3T= (n.1014-3T=) n.695-3T= c.*232-3T= (n.*232-3T=) c.*355-3T= (n.*355-3T=) c.900-3T= (n.900-3T=) c.57-3T= (n.57-3T=) n.339-3T= n.328-3T= c.807-3T= (n.807-3T=) c.1035-3T= (n.1035-3T=) c.942-3T= (n.942-3T=) | |
X | g.19358915_19358918dup | CA2499226554 | PDHA1 | c.921-1_923dup c.*592-1_*594dup c.984-1_986dup c.1014-1_1016dup n.695-1_697dup c.*232-1_*234dup c.*355-1_*357dup c.900-1_902dup c.57-1_59dup n.339-1_341dup n.328-1_330dup c.807-1_809dup c.1035-1_1037dup c.942-1_944dup | ClinVar dbSNP |
X | g.19358914A= | CA2418225216 | PDHA1 | c.921-2A= (n.921-2A=) c.*592-2A= (n.*592-2A=) c.984-2A= (n.984-2A=) c.1014-2A= (n.1014-2A=) n.695-2A= c.*232-2A= (n.*232-2A=) c.*355-2A= (n.*355-2A=) c.900-2A= (n.900-2A=) c.57-2A= (n.57-2A=) n.339-2A= n.328-2A= c.807-2A= (n.807-2A=) c.1035-2A= (n.1035-2A=) c.942-2A= (n.942-2A=) | |
X | g.19358914A>C | CA412395984 | PDHA1 | c.921-2A>C (n.921-2A>C) c.*592-2A>C (n.*592-2A>C) c.984-2A>C (n.984-2A>C) c.1014-2A>C (n.1014-2A>C) n.695-2A>C c.*232-2A>C (n.*232-2A>C) c.*355-2A>C (n.*355-2A>C) c.900-2A>C (n.900-2A>C) c.57-2A>C (n.57-2A>C) n.339-2A>C n.328-2A>C c.807-2A>C (n.807-2A>C) c.1035-2A>C (n.1035-2A>C) c.942-2A>C (n.942-2A>C) | |
X | g.19358914A>G | CA412395986 | PDHA1 | c.921-2A>G (n.921-2A>G) c.*592-2A>G (n.*592-2A>G) c.984-2A>G (n.984-2A>G) c.1014-2A>G (n.1014-2A>G) n.695-2A>G c.*232-2A>G (n.*232-2A>G) c.*355-2A>G (n.*355-2A>G) c.900-2A>G (n.900-2A>G) c.57-2A>G (n.57-2A>G) n.339-2A>G n.328-2A>G c.807-2A>G (n.807-2A>G) c.1035-2A>G (n.1035-2A>G) c.942-2A>G (n.942-2A>G) | ClinVar dbSNP gnomAD v4 |
X | g.19358914A>T | CA412395987 | PDHA1 | c.921-2A>T (n.921-2A>T) c.*592-2A>T (n.*592-2A>T) c.984-2A>T (n.984-2A>T) c.1014-2A>T (n.1014-2A>T) n.695-2A>T c.*232-2A>T (n.*232-2A>T) c.*355-2A>T (n.*355-2A>T) c.900-2A>T (n.900-2A>T) c.57-2A>T (n.57-2A>T) n.339-2A>T n.328-2A>T c.807-2A>T (n.807-2A>T) c.1035-2A>T (n.1035-2A>T) c.942-2A>T (n.942-2A>T) | gnomAD v4 |
X | g.19358914dup | CA327030516 | PDHA1 | c.921-2dup (n.921-2dup) c.*592-2dup (n.*592-2dup) c.984-2dup (n.984-2dup) c.1014-2dup (n.1014-2dup) n.695-2dup c.*232-2dup (n.*232-2dup) c.*355-2dup (n.*355-2dup) c.900-2dup (n.900-2dup) c.57-2dup (n.57-2dup) n.339-2dup n.328-2dup c.807-2dup (n.807-2dup) c.1035-2dup (n.1035-2dup) c.942-2dup (n.942-2dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.19358914_19358919dup | CA2695231650 | PDHA1 | c.921-2_924dup c.*592-2_*595dup c.984-2_987dup c.1014-2_1017dup n.695-2_698dup c.*232-2_*235dup c.*355-2_*358dup c.900-2_903dup c.57-2_60dup n.339-2_342dup n.328-2_331dup c.807-2_810dup c.1035-2_1038dup c.942-2_945dup | |
X | g.19358915G>A | CA412395995 | PDHA1 | c.921-1G>A (n.921-1G>A) c.*592-1G>A (n.*592-1G>A) c.984-1G>A (n.984-1G>A) c.1014-1G>A (n.1014-1G>A) n.695-1G>A c.*232-1G>A (n.*232-1G>A) c.*355-1G>A (n.*355-1G>A) c.900-1G>A (n.900-1G>A) c.57-1G>A (n.57-1G>A) n.339-1G>A n.328-1G>A c.807-1G>A (n.807-1G>A) c.1035-1G>A (n.1035-1G>A) c.942-1G>A (n.942-1G>A) | gnomAD v4 |
X | g.19358915G>C | CA412395992 | PDHA1 | c.921-1G>C (n.921-1G>C) c.*592-1G>C (n.*592-1G>C) c.984-1G>C (n.984-1G>C) c.1014-1G>C (n.1014-1G>C) n.695-1G>C c.*232-1G>C (n.*232-1G>C) c.*355-1G>C (n.*355-1G>C) c.900-1G>C (n.900-1G>C) c.57-1G>C (n.57-1G>C) n.339-1G>C n.328-1G>C c.807-1G>C (n.807-1G>C) c.1035-1G>C (n.1035-1G>C) c.942-1G>C (n.942-1G>C) | |
X | g.19358915G>T | CA412395990 | PDHA1 | c.921-1G>T (n.921-1G>T) c.*592-1G>T (n.*592-1G>T) c.984-1G>T (n.984-1G>T) c.1014-1G>T (n.1014-1G>T) n.695-1G>T c.*232-1G>T (n.*232-1G>T) c.*355-1G>T (n.*355-1G>T) c.900-1G>T (n.900-1G>T) c.57-1G>T (n.57-1G>T) n.339-1G>T n.328-1G>T c.807-1G>T (n.807-1G>T) c.1035-1G>T (n.1035-1G>T) c.942-1G>T (n.942-1G>T) | |
X | g.19358915_19358919dup | CA2695231651 | PDHA1 | c.921-1_924dup c.*592-1_*595dup c.984-1_987dup c.1014-1_1017dup n.695-1_698dup c.*232-1_*235dup c.*355-1_*358dup c.900-1_903dup c.57-1_60dup n.339-1_342dup n.328-1_331dup c.807-1_810dup c.1035-1_1038dup c.942-1_945dup | |
X | g.19358916T>A | CA412395996 | PDHA1 | c.921T>A (p.Ser307Arg) c.*592T>A (n.*592T>A) c.984T>A (p.Ser328Arg) c.1014T>A (p.Ser338Arg) n.695T>A c.*232T>A (n.*232T>A) c.*355T>A (n.*355T>A) c.900T>A (p.Ser300Arg) c.57T>A (p.Ser19Arg) n.339T>A n.328T>A c.807T>A (p.Ser269Arg) c.1035T>A (p.Ser345Arg) c.942T>A (p.Ser314Arg) | |
X | g.19358916T>C | CA515486267 | PDHA1 | c.921T>C (p.Ser307=) c.*592T>C (n.*592T>C) c.984T>C (p.Ser328=) c.1014T>C (p.Ser338=) n.695T>C c.*232T>C (n.*232T>C) c.*355T>C (n.*355T>C) c.900T>C (p.Ser300=) c.57T>C (p.Ser19=) n.339T>C n.328T>C c.807T>C (p.Ser269=) c.1035T>C (p.Ser345=) c.942T>C (p.Ser314=) | gnomAD v4 |
X | g.19358916T>G | CA412395999 | PDHA1 | c.921T>G (p.Ser307Arg) c.*592T>G (n.*592T>G) c.984T>G (p.Ser328Arg) c.1014T>G (p.Ser338Arg) n.695T>G c.*232T>G (n.*232T>G) c.*355T>G (n.*355T>G) c.900T>G (p.Ser300Arg) c.57T>G (p.Ser19Arg) n.339T>G n.328T>G c.807T>G (p.Ser269Arg) c.1035T>G (p.Ser345Arg) c.942T>G (p.Ser314Arg) | |
X | g.19358917T>A | CA412396002 | PDHA1 | c.922T>A (p.Tyr308Asn) c.*593T>A (n.*593T>A) c.985T>A (p.Tyr329Asn) c.1015T>A (p.Tyr339Asn) n.696T>A c.*233T>A (n.*233T>A) c.*356T>A (n.*356T>A) c.901T>A (p.Tyr301Asn) c.58T>A (p.Tyr20Asn) n.340T>A n.329T>A c.808T>A (p.Tyr270Asn) c.1036T>A (p.Tyr346Asn) c.943T>A (p.Tyr315Asn) | |
X | g.19358917T>C | CA412396004 | PDHA1 | c.922T>C (p.Tyr308His) c.*593T>C (n.*593T>C) c.985T>C (p.Tyr329His) c.1015T>C (p.Tyr339His) n.696T>C c.*233T>C (n.*233T>C) c.*356T>C (n.*356T>C) c.901T>C (p.Tyr301His) c.58T>C (p.Tyr20His) n.340T>C n.329T>C c.808T>C (p.Tyr270His) c.1036T>C (p.Tyr346His) c.943T>C (p.Tyr315His) | gnomAD v4 |
X | g.19358917T>G | CA412396007 | PDHA1 | c.922T>G (p.Tyr308Asp) c.*593T>G (n.*593T>G) c.985T>G (p.Tyr329Asp) c.1015T>G (p.Tyr339Asp) n.696T>G c.*233T>G (n.*233T>G) c.*356T>G (n.*356T>G) c.901T>G (p.Tyr301Asp) c.58T>G (p.Tyr20Asp) n.340T>G n.329T>G c.808T>G (p.Tyr270Asp) c.1036T>G (p.Tyr346Asp) c.943T>G (p.Tyr315Asp) | |
X | g.19358918A>C | CA412396010 | PDHA1 | c.923A>C (p.Tyr308Ser) c.*594A>C (n.*594A>C) c.986A>C (p.Tyr329Ser) c.1016A>C (p.Tyr339Ser) n.697A>C c.*234A>C (n.*234A>C) c.*357A>C (n.*357A>C) c.902A>C (p.Tyr301Ser) c.59A>C (p.Tyr20Ser) n.341A>C n.330A>C c.809A>C (p.Tyr270Ser) c.1037A>C (p.Tyr346Ser) c.944A>C (p.Tyr315Ser) | |
X | g.19358918A>G | CA412396012 | PDHA1 | c.923A>G (p.Tyr308Cys) c.*594A>G (n.*594A>G) c.986A>G (p.Tyr329Cys) c.1016A>G (p.Tyr339Cys) n.697A>G c.*234A>G (n.*234A>G) c.*357A>G (n.*357A>G) c.902A>G (p.Tyr301Cys) c.59A>G (p.Tyr20Cys) n.341A>G n.330A>G c.809A>G (p.Tyr270Cys) c.1037A>G (p.Tyr346Cys) c.944A>G (p.Tyr315Cys) | gnomAD v4 |
X | g.19358918A>T | CA412396015 | PDHA1 | c.923A>T (p.Tyr308Phe) c.*594A>T (n.*594A>T) c.986A>T (p.Tyr329Phe) c.1016A>T (p.Tyr339Phe) n.697A>T c.*234A>T (n.*234A>T) c.*357A>T (n.*357A>T) c.902A>T (p.Tyr301Phe) c.59A>T (p.Tyr20Phe) n.341A>T n.330A>T c.809A>T (p.Tyr270Phe) c.1037A>T (p.Tyr346Phe) c.944A>T (p.Tyr315Phe) | |
X | g.19358918_19358923del | CA2573158421 | PDHA1 | c.923_928del (p.Tyr308_Thr310delinsSer) c.*594_*599del (n.*594_*599del) c.986_991del (p.Tyr329_Thr331delinsSer) c.1016_1021del (p.Tyr339_Thr341delinsSer) n.697_702del c.*234_*239del (n.*234_*239del) c.*357_*362del (n.*357_*362del) c.902_907del (p.Tyr301_Thr303delinsSer) c.59_64del (p.Tyr20_Thr22delinsSer) n.341_346del n.330_335del c.809_814del (p.Tyr270_Thr272delinsSer) c.1037_1042del (p.Tyr346_Thr348delinsSer) c.944_949del (p.Tyr315_Thr317delinsSer) | ClinVar dbSNP |
X | g.19358919C>A | CA412396018 | PDHA1 | c.924C>A (p.Tyr308Ter) c.*595C>A (n.*595C>A) c.987C>A (p.Tyr329Ter) c.1017C>A (p.Tyr339Ter) n.698C>A c.*235C>A (n.*235C>A) c.*358C>A (n.*358C>A) c.903C>A (p.Tyr301Ter) c.60C>A (p.Tyr20Ter) n.342C>A n.331C>A c.810C>A (p.Tyr270Ter) c.1038C>A (p.Tyr346Ter) c.945C>A (p.Tyr315Ter) | gnomAD v4 |
X | g.19358919C= | CA2418225217 | PDHA1 | c.924C= (p.Tyr308=) c.*595C= (n.*595C=) c.987C= (p.Tyr329=) c.1017C= (p.Tyr339=) n.698C= c.*235C= (n.*235C=) c.*358C= (n.*358C=) c.903C= (p.Tyr301=) c.60C= (p.Tyr20=) n.342C= n.331C= c.810C= (p.Tyr270=) c.1038C= (p.Tyr346=) c.945C= (p.Tyr315=) | |
X | g.19358919C>G | CA412396020 | PDHA1 | c.924C>G (p.Tyr308Ter) c.*595C>G (n.*595C>G) c.987C>G (p.Tyr329Ter) c.1017C>G (p.Tyr339Ter) n.698C>G c.*235C>G (n.*235C>G) c.*358C>G (n.*358C>G) c.903C>G (p.Tyr301Ter) c.60C>G (p.Tyr20Ter) n.342C>G n.331C>G c.810C>G (p.Tyr270Ter) c.1038C>G (p.Tyr346Ter) c.945C>G (p.Tyr315Ter) | |
X | g.19358919C>T | CA515486272 | PDHA1 | c.924C>T (p.Tyr308=) c.*595C>T (n.*595C>T) c.987C>T (p.Tyr329=) c.1017C>T (p.Tyr339=) n.698C>T c.*235C>T (n.*235C>T) c.*358C>T (n.*358C>T) c.903C>T (p.Tyr301=) c.60C>T (p.Tyr20=) n.342C>T n.331C>T c.810C>T (p.Tyr270=) c.1038C>T (p.Tyr346=) c.945C>T (p.Tyr315=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19358920C>A | CA412396023 | PDHA1 | c.925C>A (p.Arg309Ser) c.*596C>A (n.*596C>A) c.988C>A (p.Arg330Ser) c.1018C>A (p.Arg340Ser) n.699C>A c.*236C>A (n.*236C>A) c.*359C>A (n.*359C>A) c.904C>A (p.Arg302Ser) c.61C>A (p.Arg21Ser) n.343C>A n.332C>A c.811C>A (p.Arg271Ser) c.1039C>A (p.Arg347Ser) c.946C>A (p.Arg316Ser) | gnomAD v4 |
X | g.19358920C= | CA2418225218 | PDHA1 | c.925C= (p.Arg309=) c.*596C= (n.*596C=) c.988C= (p.Arg330=) c.1018C= (p.Arg340=) n.699C= c.*236C= (n.*236C=) c.*359C= (n.*359C=) c.904C= (p.Arg302=) c.61C= (p.Arg21=) n.343C= n.332C= c.811C= (p.Arg271=) c.1039C= (p.Arg347=) c.946C= (p.Arg316=) | |
X | g.19358920C>G | CA412396026 | PDHA1 | c.925C>G (p.Arg309Gly) c.*596C>G (n.*596C>G) c.988C>G (p.Arg330Gly) c.1018C>G (p.Arg340Gly) n.699C>G c.*236C>G (n.*236C>G) c.*359C>G (n.*359C>G) c.904C>G (p.Arg302Gly) c.61C>G (p.Arg21Gly) n.343C>G n.332C>G c.811C>G (p.Arg271Gly) c.1039C>G (p.Arg347Gly) c.946C>G (p.Arg316Gly) | |
X | g.19358920C>T | CA121214 | PDHA1 | c.925C>T (p.Arg309Cys) c.*596C>T (n.*596C>T) c.988C>T (p.Arg330Cys) c.1018C>T (p.Arg340Cys) n.699C>T c.*236C>T (n.*236C>T) c.*359C>T (n.*359C>T) c.904C>T (p.Arg302Cys) c.61C>T (p.Arg21Cys) n.343C>T n.332C>T c.811C>T (p.Arg271Cys) c.1039C>T (p.Arg347Cys) c.946C>T (p.Arg316Cys) | ClinVar dbSNP gnomAD v4 |
X | g.19358921G>A | CA16621292 | PDHA1 | c.926G>A (p.Arg309His) c.*597G>A (n.*597G>A) c.989G>A (p.Arg330His) c.1019G>A (p.Arg340His) n.700G>A c.*237G>A (n.*237G>A) c.*360G>A (n.*360G>A) c.905G>A (p.Arg302His) c.62G>A (p.Arg21His) n.344G>A n.333G>A c.812G>A (p.Arg271His) c.1040G>A (p.Arg347His) c.947G>A (p.Arg316His) | ClinVar dbSNP gnomAD v4 |
X | g.19358921G>C | CA412396034 | PDHA1 | c.926G>C (p.Arg309Pro) c.*597G>C (n.*597G>C) c.989G>C (p.Arg330Pro) c.1019G>C (p.Arg340Pro) n.700G>C c.*237G>C (n.*237G>C) c.*360G>C (n.*360G>C) c.905G>C (p.Arg302Pro) c.62G>C (p.Arg21Pro) n.344G>C n.333G>C c.812G>C (p.Arg271Pro) c.1040G>C (p.Arg347Pro) c.947G>C (p.Arg316Pro) | |
X | g.19358921G= | CA2418225219 | PDHA1 | c.926G= (p.Arg309=) c.*597G= (n.*597G=) c.989G= (p.Arg330=) c.1019G= (p.Arg340=) n.700G= c.*237G= (n.*237G=) c.*360G= (n.*360G=) c.905G= (p.Arg302=) c.62G= (p.Arg21=) n.344G= n.333G= c.812G= (p.Arg271=) c.1040G= (p.Arg347=) c.947G= (p.Arg316=) | |
X | g.19358921G>T | CA412396031 | PDHA1 | c.926G>T (p.Arg309Leu) c.*597G>T (n.*597G>T) c.989G>T (p.Arg330Leu) c.1019G>T (p.Arg340Leu) n.700G>T c.*237G>T (n.*237G>T) c.*360G>T (n.*360G>T) c.905G>T (p.Arg302Leu) c.62G>T (p.Arg21Leu) n.344G>T n.333G>T c.812G>T (p.Arg271Leu) c.1040G>T (p.Arg347Leu) c.947G>T (p.Arg316Leu) | COSMIC COSMIC |
X | g.19358922T>A | CA515486274 | PDHA1 | c.927T>A (p.Arg309=) c.*598T>A (n.*598T>A) c.990T>A (p.Arg330=) c.1020T>A (p.Arg340=) n.701T>A c.*238T>A (n.*238T>A) c.*361T>A (n.*361T>A) c.906T>A (p.Arg302=) c.63T>A (p.Arg21=) n.345T>A n.334T>A c.813T>A (p.Arg271=) c.1041T>A (p.Arg347=) c.948T>A (p.Arg316=) | |
X | g.19358922T>C | CA515486275 | PDHA1 | c.927T>C (p.Arg309=) c.*598T>C (n.*598T>C) c.990T>C (p.Arg330=) c.1020T>C (p.Arg340=) n.701T>C c.*238T>C (n.*238T>C) c.*361T>C (n.*361T>C) c.906T>C (p.Arg302=) c.63T>C (p.Arg21=) n.345T>C n.334T>C c.813T>C (p.Arg271=) c.1041T>C (p.Arg347=) c.948T>C (p.Arg316=) | |
X | g.19358922T>G | CA515486277 | PDHA1 | c.927T>G (p.Arg309=) c.*598T>G (n.*598T>G) c.990T>G (p.Arg330=) c.1020T>G (p.Arg340=) n.701T>G c.*238T>G (n.*238T>G) c.*361T>G (n.*361T>G) c.906T>G (p.Arg302=) c.63T>G (p.Arg21=) n.345T>G n.334T>G c.813T>G (p.Arg271=) c.1041T>G (p.Arg347=) c.948T>G (p.Arg316=) | |
X | g.19358923A= | CA2418225220 | PDHA1 | c.928A= (p.Thr310=) c.*599A= (n.*599A=) c.991A= (p.Thr331=) c.1021A= (p.Thr341=) n.702A= c.*239A= (n.*239A=) c.*362A= (n.*362A=) c.907A= (p.Thr303=) c.64A= (p.Thr22=) n.346A= n.335A= c.814A= (p.Thr272=) c.1042A= (p.Thr348=) c.949A= (p.Thr317=) | |
X | g.19358923A>C | CA412396040 | PDHA1 | c.928A>C (p.Thr310Pro) c.*599A>C (n.*599A>C) c.991A>C (p.Thr331Pro) c.1021A>C (p.Thr341Pro) n.702A>C c.*239A>C (n.*239A>C) c.*362A>C (n.*362A>C) c.907A>C (p.Thr303Pro) c.64A>C (p.Thr22Pro) n.346A>C n.335A>C c.814A>C (p.Thr272Pro) c.1042A>C (p.Thr348Pro) c.949A>C (p.Thr317Pro) | |
X | g.19358923A>G | CA412396037 | PDHA1 | c.928A>G (p.Thr310Ala) c.*599A>G (n.*599A>G) c.991A>G (p.Thr331Ala) c.1021A>G (p.Thr341Ala) n.702A>G c.*239A>G (n.*239A>G) c.*362A>G (n.*362A>G) c.907A>G (p.Thr303Ala) c.64A>G (p.Thr22Ala) n.346A>G n.335A>G c.814A>G (p.Thr272Ala) c.1042A>G (p.Thr348Ala) c.949A>G (p.Thr317Ala) | ClinVar dbSNP |
X | g.19358923A>T | CA412396042 | PDHA1 | c.928A>T (p.Thr310Ser) c.*599A>T (n.*599A>T) c.991A>T (p.Thr331Ser) c.1021A>T (p.Thr341Ser) n.702A>T c.*239A>T (n.*239A>T) c.*362A>T (n.*362A>T) c.907A>T (p.Thr303Ser) c.64A>T (p.Thr22Ser) n.346A>T n.335A>T c.814A>T (p.Thr272Ser) c.1042A>T (p.Thr348Ser) c.949A>T (p.Thr317Ser) | |
X | g.19358924C>A | CA412396045 | PDHA1 | c.929C>A (p.Thr310Lys) c.*600C>A (n.*600C>A) c.992C>A (p.Thr331Lys) c.1022C>A (p.Thr341Lys) n.703C>A c.*240C>A (n.*240C>A) c.*363C>A (n.*363C>A) c.908C>A (p.Thr303Lys) c.65C>A (p.Thr22Lys) n.347C>A n.336C>A c.815C>A (p.Thr272Lys) c.1043C>A (p.Thr348Lys) c.950C>A (p.Thr317Lys) | gnomAD v4 |
X | g.19358924C>G | CA412396047 | PDHA1 | c.929C>G (p.Thr310Arg) c.*600C>G (n.*600C>G) c.992C>G (p.Thr331Arg) c.1022C>G (p.Thr341Arg) n.703C>G c.*240C>G (n.*240C>G) c.*363C>G (n.*363C>G) c.908C>G (p.Thr303Arg) c.65C>G (p.Thr22Arg) n.347C>G n.336C>G c.815C>G (p.Thr272Arg) c.1043C>G (p.Thr348Arg) c.950C>G (p.Thr317Arg) | |
X | g.19358924C>T | CA412396049 | PDHA1 | c.929C>T (p.Thr310Ile) c.*600C>T (n.*600C>T) c.992C>T (p.Thr331Ile) c.1022C>T (p.Thr341Ile) n.703C>T c.*240C>T (n.*240C>T) c.*363C>T (n.*363C>T) c.908C>T (p.Thr303Ile) c.65C>T (p.Thr22Ile) n.347C>T n.336C>T c.815C>T (p.Thr272Ile) c.1043C>T (p.Thr348Ile) c.950C>T (p.Thr317Ile) | gnomAD v4 |
X | g.19358925A>C | CA515486283 | PDHA1 | c.930A>C (p.Thr310=) c.*601A>C (n.*601A>C) c.993A>C (p.Thr331=) c.1023A>C (p.Thr341=) n.704A>C c.*241A>C (n.*241A>C) c.*364A>C (n.*364A>C) c.909A>C (p.Thr303=) c.66A>C (p.Thr22=) n.348A>C n.337A>C c.816A>C (p.Thr272=) c.1044A>C (p.Thr348=) c.951A>C (p.Thr317=) | |
X | g.19358925A>G | CA515486281 | PDHA1 | c.930A>G (p.Thr310=) c.*601A>G (n.*601A>G) c.993A>G (p.Thr331=) c.1023A>G (p.Thr341=) n.704A>G c.*241A>G (n.*241A>G) c.*364A>G (n.*364A>G) c.909A>G (p.Thr303=) c.66A>G (p.Thr22=) n.348A>G n.337A>G c.816A>G (p.Thr272=) c.1044A>G (p.Thr348=) c.951A>G (p.Thr317=) | gnomAD v4 |
X | g.19358925A>T | CA515486280 | PDHA1 | c.930A>T (p.Thr310=) c.*601A>T (n.*601A>T) c.993A>T (p.Thr331=) c.1023A>T (p.Thr341=) n.704A>T c.*241A>T (n.*241A>T) c.*364A>T (n.*364A>T) c.909A>T (p.Thr303=) c.66A>T (p.Thr22=) n.348A>T n.337A>T c.816A>T (p.Thr272=) c.1044A>T (p.Thr348=) c.951A>T (p.Thr317=) | |
X | g.19358926C>A | CA515486284 | PDHA1 | c.931C>A (p.Arg311=) c.*602C>A (n.*602C>A) c.994C>A (p.Arg332=) c.1024C>A (p.Arg342=) n.705C>A c.*242C>A (n.*242C>A) c.*365C>A (n.*365C>A) c.910C>A (p.Arg304=) c.67C>A (p.Arg23=) n.349C>A n.338C>A c.817C>A (p.Arg273=) c.1045C>A (p.Arg349=) c.952C>A (p.Arg318=) | gnomAD v4 |
X | g.19358926C= | CA2418225221 | PDHA1 | c.931C= (p.Arg311=) c.*602C= (n.*602C=) c.994C= (p.Arg332=) c.1024C= (p.Arg342=) n.705C= c.*242C= (n.*242C=) c.*365C= (n.*365C=) c.910C= (p.Arg304=) c.67C= (p.Arg23=) n.349C= n.338C= c.817C= (p.Arg273=) c.1045C= (p.Arg349=) c.952C= (p.Arg318=) | |
X | g.19358926C>G | CA412396052 | PDHA1 | c.931C>G (p.Arg311Gly) c.*602C>G (n.*602C>G) c.994C>G (p.Arg332Gly) c.1024C>G (p.Arg342Gly) n.705C>G c.*242C>G (n.*242C>G) c.*365C>G (n.*365C>G) c.910C>G (p.Arg304Gly) c.67C>G (p.Arg23Gly) n.349C>G n.338C>G c.817C>G (p.Arg273Gly) c.1045C>G (p.Arg349Gly) c.952C>G (p.Arg318Gly) | |
X | g.19358926C>T | CA321113 | PDHA1 | c.931C>T (p.Arg311Ter) c.*602C>T (n.*602C>T) c.994C>T (p.Arg332Ter) c.1024C>T (p.Arg342Ter) n.705C>T c.*242C>T (n.*242C>T) c.*365C>T (n.*365C>T) c.910C>T (p.Arg304Ter) c.67C>T (p.Arg23Ter) n.349C>T n.338C>T c.817C>T (p.Arg273Ter) c.1045C>T (p.Arg349Ter) c.952C>T (p.Arg318Ter) | ClinVar dbSNP gnomAD v4 |
X | g.19358927G>A | CA10363164 | PDHA1 | c.932G>A (p.Arg311Gln) c.*603G>A (n.*603G>A) c.995G>A (p.Arg332Gln) c.1025G>A (p.Arg342Gln) n.706G>A c.*243G>A (n.*243G>A) c.*366G>A (n.*366G>A) c.911G>A (p.Arg304Gln) c.68G>A (p.Arg23Gln) n.350G>A n.339G>A c.818G>A (p.Arg273Gln) c.1046G>A (p.Arg349Gln) c.953G>A (p.Arg318Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.19358927G>C | CA412396057 | PDHA1 | c.932G>C (p.Arg311Pro) c.*603G>C (n.*603G>C) c.995G>C (p.Arg332Pro) c.1025G>C (p.Arg342Pro) n.706G>C c.*243G>C (n.*243G>C) c.*366G>C (n.*366G>C) c.911G>C (p.Arg304Pro) c.68G>C (p.Arg23Pro) n.350G>C n.339G>C c.818G>C (p.Arg273Pro) c.1046G>C (p.Arg349Pro) c.953G>C (p.Arg318Pro) | |
X | g.19358927G= | CA2418225222 | PDHA1 | c.932G= (p.Arg311=) c.*603G= (n.*603G=) c.995G= (p.Arg332=) c.1025G= (p.Arg342=) n.706G= c.*243G= (n.*243G=) c.*366G= (n.*366G=) c.911G= (p.Arg304=) c.68G= (p.Arg23=) n.350G= n.339G= c.818G= (p.Arg273=) c.1046G= (p.Arg349=) c.953G= (p.Arg318=) | |
X | g.19358927G>T | CA412396059 | PDHA1 | c.932G>T (p.Arg311Leu) c.*603G>T (n.*603G>T) c.995G>T (p.Arg332Leu) c.1025G>T (p.Arg342Leu) n.706G>T c.*243G>T (n.*243G>T) c.*366G>T (n.*366G>T) c.911G>T (p.Arg304Leu) c.68G>T (p.Arg23Leu) n.350G>T n.339G>T c.818G>T (p.Arg273Leu) c.1046G>T (p.Arg349Leu) c.953G>T (p.Arg318Leu) | |
X | g.19358928A= | CA2418225223 | PDHA1 | c.933A= (p.Arg311=) c.*604A= (n.*604A=) c.996A= (p.Arg332=) c.1026A= (p.Arg342=) n.707A= c.*244A= (n.*244A=) c.*367A= (n.*367A=) c.912A= (p.Arg304=) c.69A= (p.Arg23=) n.351A= n.340A= c.819A= (p.Arg273=) c.1047A= (p.Arg349=) c.954A= (p.Arg318=) | |
X | g.19358928A>C | CA10363165 | PDHA1 | c.933A>C (p.Arg311=) c.*604A>C (n.*604A>C) c.996A>C (p.Arg332=) c.1026A>C (p.Arg342=) n.707A>C c.*244A>C (n.*244A>C) c.*367A>C (n.*367A>C) c.912A>C (p.Arg304=) c.69A>C (p.Arg23=) n.351A>C n.340A>C c.819A>C (p.Arg273=) c.1047A>C (p.Arg349=) c.954A>C (p.Arg318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19358928A>G | CA515486286 | PDHA1 | c.933A>G (p.Arg311=) c.*604A>G (n.*604A>G) c.996A>G (p.Arg332=) c.1026A>G (p.Arg342=) n.707A>G c.*244A>G (n.*244A>G) c.*367A>G (n.*367A>G) c.912A>G (p.Arg304=) c.69A>G (p.Arg23=) n.351A>G n.340A>G c.819A>G (p.Arg273=) c.1047A>G (p.Arg349=) c.954A>G (p.Arg318=) | gnomAD v4 |
X | g.19358928A>T | CA515486287 | PDHA1 | c.933A>T (p.Arg311=) c.*604A>T (n.*604A>T) c.996A>T (p.Arg332=) c.1026A>T (p.Arg342=) n.707A>T c.*244A>T (n.*244A>T) c.*367A>T (n.*367A>T) c.912A>T (p.Arg304=) c.69A>T (p.Arg23=) n.351A>T n.340A>T c.819A>T (p.Arg273=) c.1047A>T (p.Arg349=) c.954A>T (p.Arg318=) | |
X | g.19358929G>A | CA412396065 | PDHA1 | c.934G>A (p.Glu312Lys) c.*605G>A (n.*605G>A) c.997G>A (p.Glu333Lys) c.1027G>A (p.Glu343Lys) n.708G>A c.*245G>A (n.*245G>A) c.*368G>A (n.*368G>A) c.913G>A (p.Glu305Lys) c.70G>A (p.Glu24Lys) n.352G>A n.341G>A c.820G>A (p.Glu274Lys) c.1048G>A (p.Glu350Lys) c.955G>A (p.Glu319Lys) | |
X | g.19358929G>C | CA412396067 | PDHA1 | c.934G>C (p.Glu312Gln) c.*605G>C (n.*605G>C) c.997G>C (p.Glu333Gln) c.1027G>C (p.Glu343Gln) n.708G>C c.*245G>C (n.*245G>C) c.*368G>C (n.*368G>C) c.913G>C (p.Glu305Gln) c.70G>C (p.Glu24Gln) n.352G>C n.341G>C c.820G>C (p.Glu274Gln) c.1048G>C (p.Glu350Gln) c.955G>C (p.Glu319Gln) | |
X | g.19358929G>T | CA412396069 | PDHA1 | c.934G>T (p.Glu312Ter) c.*605G>T (n.*605G>T) c.997G>T (p.Glu333Ter) c.1027G>T (p.Glu343Ter) n.708G>T c.*245G>T (n.*245G>T) c.*368G>T (n.*368G>T) c.913G>T (p.Glu305Ter) c.70G>T (p.Glu24Ter) n.352G>T n.341G>T c.820G>T (p.Glu274Ter) c.1048G>T (p.Glu350Ter) c.955G>T (p.Glu319Ter) | |
X | g.19358930A>C | CA412396076 | PDHA1 | c.935A>C (p.Glu312Ala) c.*606A>C (n.*606A>C) c.998A>C (p.Glu333Ala) c.1028A>C (p.Glu343Ala) n.709A>C c.*246A>C (n.*246A>C) c.*369A>C (n.*369A>C) c.914A>C (p.Glu305Ala) c.71A>C (p.Glu24Ala) n.353A>C n.342A>C c.821A>C (p.Glu274Ala) c.1049A>C (p.Glu350Ala) c.956A>C (p.Glu319Ala) | |
X | g.19358930A>G | CA412396075 | PDHA1 | c.935A>G (p.Glu312Gly) c.*606A>G (n.*606A>G) c.998A>G (p.Glu333Gly) c.1028A>G (p.Glu343Gly) n.709A>G c.*246A>G (n.*246A>G) c.*369A>G (n.*369A>G) c.914A>G (p.Glu305Gly) c.71A>G (p.Glu24Gly) n.353A>G n.342A>G c.821A>G (p.Glu274Gly) c.1049A>G (p.Glu350Gly) c.956A>G (p.Glu319Gly) | gnomAD v4 |
X | g.19358930A>T | CA412396073 | PDHA1 | c.935A>T (p.Glu312Val) c.*606A>T (n.*606A>T) c.998A>T (p.Glu333Val) c.1028A>T (p.Glu343Val) n.709A>T c.*246A>T (n.*246A>T) c.*369A>T (n.*369A>T) c.914A>T (p.Glu305Val) c.71A>T (p.Glu24Val) n.353A>T n.342A>T c.821A>T (p.Glu274Val) c.1049A>T (p.Glu350Val) c.956A>T (p.Glu319Val) | |
X | g.19358931A>C | CA412396079 | PDHA1 | c.936A>C (p.Glu312Asp) c.*607A>C (n.*607A>C) c.999A>C (p.Glu333Asp) c.1029A>C (p.Glu343Asp) n.710A>C c.*247A>C (n.*247A>C) c.*370A>C (n.*370A>C) c.915A>C (p.Glu305Asp) c.72A>C (p.Glu24Asp) n.354A>C n.343A>C c.822A>C (p.Glu274Asp) c.1050A>C (p.Glu350Asp) c.957A>C (p.Glu319Asp) | |
X | g.19358931A>G | CA515486288 | PDHA1 | c.936A>G (p.Glu312=) c.*607A>G (n.*607A>G) c.999A>G (p.Glu333=) c.1029A>G (p.Glu343=) n.710A>G c.*247A>G (n.*247A>G) c.*370A>G (n.*370A>G) c.915A>G (p.Glu305=) c.72A>G (p.Glu24=) n.354A>G n.343A>G c.822A>G (p.Glu274=) c.1050A>G (p.Glu350=) c.957A>G (p.Glu319=) | gnomAD v4 |
X | g.19358931A>T | CA412396081 | PDHA1 | c.936A>T (p.Glu312Asp) c.*607A>T (n.*607A>T) c.999A>T (p.Glu333Asp) c.1029A>T (p.Glu343Asp) n.710A>T c.*247A>T (n.*247A>T) c.*370A>T (n.*370A>T) c.915A>T (p.Glu305Asp) c.72A>T (p.Glu24Asp) n.354A>T n.343A>T c.822A>T (p.Glu274Asp) c.1050A>T (p.Glu350Asp) c.957A>T (p.Glu319Asp) | |
X | g.19358932G>A | CA412396084 | PDHA1 | c.937G>A (p.Glu313Lys) c.*608G>A (n.*608G>A) c.1000G>A (p.Glu334Lys) c.1030G>A (p.Glu344Lys) n.711G>A c.*248G>A (n.*248G>A) c.*371G>A (n.*371G>A) c.916G>A (p.Glu306Lys) c.73G>A (p.Glu25Lys) n.355G>A n.344G>A c.823G>A (p.Glu275Lys) c.1051G>A (p.Glu351Lys) c.958G>A (p.Glu320Lys) | |
X | g.19358932G>C | CA412396086 | PDHA1 | c.937G>C (p.Glu313Gln) c.*608G>C (n.*608G>C) c.1000G>C (p.Glu334Gln) c.1030G>C (p.Glu344Gln) n.711G>C c.*248G>C (n.*248G>C) c.*371G>C (n.*371G>C) c.916G>C (p.Glu306Gln) c.73G>C (p.Glu25Gln) n.355G>C n.344G>C c.823G>C (p.Glu275Gln) c.1051G>C (p.Glu351Gln) c.958G>C (p.Glu320Gln) | |
X | g.19358932G= | CA2418225224 | PDHA1 | c.937G= (p.Glu313=) c.*608G= (n.*608G=) c.1000G= (p.Glu334=) c.1030G= (p.Glu344=) n.711G= c.*248G= (n.*248G=) c.*371G= (n.*371G=) c.916G= (p.Glu306=) c.73G= (p.Glu25=) n.355G= n.344G= c.823G= (p.Glu275=) c.1051G= (p.Glu351=) c.958G= (p.Glu320=) | |
X | g.19358932G>T | CA412396088 | PDHA1 | c.937G>T (p.Glu313Ter) c.*608G>T (n.*608G>T) c.1000G>T (p.Glu334Ter) c.1030G>T (p.Glu344Ter) n.711G>T c.*248G>T (n.*248G>T) c.*371G>T (n.*371G>T) c.916G>T (p.Glu306Ter) c.73G>T (p.Glu25Ter) n.355G>T n.344G>T c.823G>T (p.Glu275Ter) c.1051G>T (p.Glu351Ter) c.958G>T (p.Glu320Ter) | COSMIC COSMIC |
X | g.19358933A>C | CA412396090 | PDHA1 | c.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) | |
X | g.19358933A>G | CA412396091 | PDHA1 | c.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) | |
X | g.19358933A>T | CA412396092 | PDHA1 | c.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) | |
X | g.19358934_19358943dup | CA1139667326 | PDHA1 | c.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 |
X | g.19358934A>C | CA412396093 | PDHA1 | c.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) | |
X | g.19358934A>G | CA515486292 | PDHA1 | c.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 |
X | g.19358934A>T | CA412396094 | PDHA1 | c.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) | |
X | g.19358935A>C | CA412396095 | PDHA1 | c.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) | |
X | g.19358935A>G | CA412396096 | PDHA1 | c.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) | |
X | g.19358935A>T | CA412396097 | PDHA1 | c.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) | |
X | g.19358936T>A | CA412396099 | PDHA1 | c.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) | |
X | g.19358936T>C | CA412396100 | PDHA1 | c.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 |
X | g.19358936T>G | CA412396098 | PDHA1 | c.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) | |
X | g.19358936T= | CA2418225225 | PDHA1 | c.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=) | |
X | g.19358937_19358952dup | CA2695231652 | PDHA1 | c.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) | |
X | g.19358937T>A | CA515486296 | PDHA1 | c.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=) | |
X | g.19358937T>C | CA515486297 | PDHA1 | c.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 |
X | g.19358937T>G | CA412396101 | PDHA1 | c.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) | |
X | g.19358937_19358948dup | CA16043300 | PDHA1 | c.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 |
X | g.19358938C>A | CA412396102 | PDHA1 | c.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 |
X | g.19358938C>G | CA412396103 | PDHA1 | c.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) | |
X | g.19358938C>T | CA412396104 | PDHA1 | c.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) | |
X | g.19358939A>C | CA412396105 | PDHA1 | c.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) | |
X | g.19358939A>G | CA412396106 | PDHA1 | c.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 |
X | g.19358939A>T | CA412396107 | PDHA1 | c.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) | |
X | g.19358940_19358946del | CA2695231653 | PDHA1 | c.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 |
X | g.19358940G>A | CA515486299 | PDHA1 | c.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=) | |
X | g.19358940G>C | CA412396108 | PDHA1 | c.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) | |
X | g.19358940G>T | CA412396109 | PDHA1 | c.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 |
X | g.19358940_19358947delinsGGAAGTAA | CA2418225226 | PDHA1 | c.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=) | |
X | g.19358941G>A | CA412396111 | PDHA1 | c.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 |
X | g.19358941G>C | CA412396112 | PDHA1 | c.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 |
X | g.19358941G= | CA2418225228 | PDHA1 | c.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=) | |
X | g.19358941G>T | CA412396110 | PDHA1 | c.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) | |
X | g.19358942_19358944dup | CA2695231654 | PDHA1 | c.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) | |
X | g.19358941_19358945delinsGAAGT | CA2418225227 | PDHA1 | c.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=) | |
X | g.19358950_19358956dup | CA2580615401 | PDHA1 | c.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 |
X | g.19358950_19358956del | CA121204 | PDHA1 | c.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 |
X | g.19358942A>C | CA412396113 | PDHA1 | c.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) | |
X | g.19358942A>G | CA412396114 | PDHA1 | c.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 |
X | g.19358942A>T | CA412396115 | PDHA1 | c.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) | |
X | g.19358945_19358948del | CA658799595 | PDHA1 | c.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 |
X | g.19358943A= | CA2418225229 | PDHA1 | c.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=) | |
X | g.19358943A>C | CA327030540 | PDHA1 | c.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 |
X | g.19358943A>G | CA515486303 | PDHA1 | c.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 |
X | g.19358943A>T | CA412396116 | PDHA1 | c.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) | |
X | g.19358944G>A | CA412396117 | PDHA1 | c.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) | |
X | g.19358944G>C | CA412396118 | PDHA1 | c.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) | |
X | g.19358944G>T | CA412396119 | PDHA1 | c.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) | |
X | g.19358945T>A | CA412396122 | PDHA1 | c.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) | |
X | g.19358945T>C | CA412396120 | PDHA1 | c.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) | |
X | g.19358945T>G | CA412396121 | PDHA1 | c.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) | |
X | g.19358945_19358948delinsTAAG | CA2418225230 | PDHA1 | c.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=) | |
X | g.19358946A>C | CA515486307 | PDHA1 | c.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=) | |
X | g.19358946A>G | CA515486309 | PDHA1 | c.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=) | |
X | g.19358946A>T | CA515486311 | PDHA1 | c.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=) | |
X | g.19358949_19358951dup | CA2580615402 | PDHA1 | c.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 |
X | g.19358949_19358951del | CA658684283 | PDHA1 | c.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 |
X | g.19358947A>C | CA515486313 | PDHA1 | c.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=) | |
X | g.19358947A>G | CA412396123 | PDHA1 | c.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 |
X | g.19358947A>T | CA412396124 | PDHA1 | c.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) | |
X | g.19358948G>A | CA412396125 | PDHA1 | c.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) | |
X | g.19358948G>C | CA412396126 | PDHA1 | c.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) | |
X | g.19358948G>T | CA412396127 | PDHA1 | c.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) | |
X | g.19358948_19358952delinsGAAGT | CA2418225231 | PDHA1 | c.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=) | |
X | g.19358949A= | CA2418225232 | PDHA1 | c.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=) | |
X | g.19358949A>C | CA412396129 | PDHA1 | c.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) | |
X | g.19358949A>G | CA515486317 | PDHA1 | c.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 |
X | g.19358949A>T | CA412396128 | PDHA1 | c.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) | |
X | g.19358952_19358955del | CA323384 | PDHA1 | c.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 |
X | g.19358950A>C | CA412396131 | PDHA1 | c.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) | |
X | g.19358950A>G | CA412396132 | PDHA1 | c.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 |
X | g.19358950A>T | CA412396130 | PDHA1 | c.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) | |
X | g.19358953_19358958dup | CA2695231655 | PDHA1 | c.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) | |
X | g.19358950_19359008dup | CA915950757 | PDHA1 | c.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 |
X | g.19358951G>A | CA412396133 | PDHA1 | c.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 |
X | g.19358951G>C | CA412396134 | PDHA1 | c.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) | |
X | g.19358951G>T | CA412396135 | PDHA1 | c.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) | |
X | g.19358952T>A | CA412396136 | PDHA1 | c.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 |
X | g.19358952T>C | CA515486319 | PDHA1 | c.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=) | |
X | g.19358952T>G | CA412396137 | PDHA1 | c.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) | |
X | g.19358952_19358955delinsTAAG | CA2418225233 | PDHA1 | c.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=) | |
X | g.19358953A>C | CA412396138 | PDHA1 | c.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) | |
X | g.19358953A>G | CA412396139 | PDHA1 | c.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) | |
X | g.19358953A>T | CA412396140 | PDHA1 | c.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) | |
X | g.19358954del | CA2579566420 | PDHA1 | c.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) | |
X | g.19358953_19358956dup | CA320449 | PDHA1 | c.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 |
X | g.19358954_19358956del | CA121206 | PDHA1 | c.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 |
X | g.19358954A>C | CA412396143 | PDHA1 | c.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) | |
X | g.19358954A>G | CA412396141 | PDHA1 | c.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) | |
X | g.19358954A>T | CA412396142 | PDHA1 | c.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) | |
X | g.19358955G>A | CA327030570 | PDHA1 | c.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 |
X | g.19358955G>C | CA412396144 | PDHA1 | c.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) | |
X | g.19358955G= | CA2418225234 | PDHA1 | c.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=) | |
X | g.19358955G>T | CA412396145 | PDHA1 | c.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) | |
X | g.19358956A>C | CA412396146 | PDHA1 | c.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) | |
X | g.19358956A>G | CA412396147 | PDHA1 | c.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 |
X | g.19358956A>T | CA412396148 | PDHA1 | c.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) | |
X | g.19358957G>A | CA412396149 | PDHA1 | c.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 |
X | g.19358957G>C | CA412396150 | PDHA1 | c.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) | |
X | g.19358957G= | CA2418225235 | PDHA1 | c.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=) | |
X | g.19358957G>T | CA412396151 | PDHA1 | c.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) | |
X | g.19358958T>A | CA412396152 | PDHA1 | c.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) | |
X | g.19358958T>C | CA515486325 | PDHA1 | c.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=) | |
X | g.19358958T>G | CA412396153 | PDHA1 | c.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) | |
X | g.19358959G>A | CA121219 | PDHA1 | c.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 |
X | g.19358959G>C | CA412396154 | PDHA1 | c.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) | |
X | g.19358959G= | CA2418225236 | PDHA1 | c.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=) | |
X | g.19358959G>T | CA412396155 | PDHA1 | c.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) | |
X | g.19358960A>C | CA412396156 | PDHA1 | c.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) | |
X | g.19358960A>G | CA412396157 | PDHA1 | c.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) | |
X | g.19358960A>T | CA412396158 | PDHA1 | c.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) | |
X | g.19358961C>A | CA412396159 | PDHA1 | c.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) | |
X | g.19358961C= | CA2418225237 | PDHA1 | c.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=) | |
X | g.19358961C>G | CA412396160 | PDHA1 | c.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) | |
X | g.19358961C>T | CA515486330 | PDHA1 | c.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 |
X | g.19358962C>A | CA412396161 | PDHA1 | c.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) | |
X | g.19358962C>G | CA412396162 | PDHA1 | c.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 |
X | g.19358962C>T | CA412396163 | PDHA1 | c.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) | |
X | g.19358963C>A | CA412396164 | PDHA1 | c.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 |
X | g.19358963C= | CA2418225238 | PDHA1 | c.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=) | |
X | g.19358963C>G | CA412396166 | PDHA1 | c.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) | |
X | g.19358963C>T | CA412396165 | PDHA1 | c.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) | |
X | g.19358964T>A | CA10363166 | PDHA1 | c.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 |
X | g.19358964T>C | CA515486332 | PDHA1 | c.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 |
X | g.19358964T>G | CA515486333 | PDHA1 | c.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=) | |
X | g.19358964T= | CA2418225239 | PDHA1 | c.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=) | |
X | g.19358964dup | CA2841780290 | PDHA1 | c.969dup (p.Ile324TyrfsTer23) c.*640dup (n.*640dup) c.1032dup (p.Ile345TyrfsTer23) c.1062dup (p.Ile355TyrfsTer23) n.743dup c.*280dup (n.*280dup) c.*403dup (n.*403dup) c.948dup (p.Ile317TyrfsTer23) c.105dup (p.Ile36TyrfsTer23) n.387dup n.376dup c.855dup (p.Ile286TyrfsTer23) c.1083dup (p.Ile362TyrfsTer23) c.990dup (p.Ile331TyrfsTer23) | |
X | g.19358965_19358966del | CA2695231656 | PDHA1 | c.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) | |
X | g.19358964_19358980dup | CA1139667327 | PDHA1 | c.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 |
X | g.19358965_19359039dup | CA640522581 | PDHA1 | c.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 |
X | g.19358965A= | CA2418225240 | PDHA1 | c.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=) | |
X | g.19358965A>C | CA412396167 | PDHA1 | c.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) | |
X | g.19358965A>G | CA412396168 | PDHA1 | c.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 |
X | g.19358965A>T | CA412396169 | PDHA1 | c.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) | |
X | g.19358965_19358968dup | CA1139667328 | PDHA1 | c.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 |
X | g.19358966T>A | CA412396172 | PDHA1 | c.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) | |
X | g.19358966T>C | CA412396170 | PDHA1 | c.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) | |
X | g.19358966T>G | CA412396171 | PDHA1 | c.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) | |
X | g.19358967del | CA2568006414 | PDHA1 | c.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) | |
X | g.19358966_19358980dup | CA2695231657 | PDHA1 | c.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) | |
X | g.19358967T>A | CA515486337 | PDHA1 | c.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=) | |
X | g.19358967T>C | CA515486338 | PDHA1 | c.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=) | |
X | g.19358967T>G | CA412396173 | PDHA1 | c.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) | |
X | g.19358968A>C | CA412396174 | PDHA1 | c.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) | |
X | g.19358968A>G | CA412396175 | PDHA1 | c.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) | |
X | g.19358968A>T | CA412396176 | PDHA1 | c.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) | |
X | g.19358969T>A | CA412396177 | PDHA1 | c.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 |
X | g.19358969T>C | CA412396178 | PDHA1 | c.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 |
X | g.19358969T>G | CA412396179 | PDHA1 | c.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) | |
X | g.19358969T= | CA2418225241 | PDHA1 | c.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=) | |
X | g.19358970G>A | CA412396180 | PDHA1 | c.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 |
X | g.19358970G>C | CA412396181 | PDHA1 | c.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) | |
X | g.19358970G>T | CA412396182 | PDHA1 | c.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) | |
X | g.19358970dup | CA10603427 | PDHA1 | c.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 |
X | g.19358971C>A | CA412396183 | PDHA1 | c.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 |
X | g.19358971C= | CA2418225242 | PDHA1 | c.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=) | |
X | g.19358971C>G | CA10363167 | PDHA1 | c.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 |
X | g.19358971C>T | CA412396184 | PDHA1 | c.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) | |
X | g.19358972T>A | CA412396187 | PDHA1 | c.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) | |
X | g.19358972T>C | CA412396185 | PDHA1 | c.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) | |
X | g.19358972T>G | CA412396186 | PDHA1 | c.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) | |
X | g.19358972_19358975dup | CA2580100426 | PDHA1 | c.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 |
X | g.19358973T>A | CA515486341 | PDHA1 | c.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=) | |
X | g.19358973T>C | CA515486342 | PDHA1 | c.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=) | |
X | g.19358973T>G | CA515486343 | PDHA1 | c.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=) | |
X | g.19358974C>A | CA412396188 | PDHA1 | c.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) | |
X | g.19358974C>G | CA412396189 | PDHA1 | c.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) | |
X | g.19358974C>T | CA412396190 | PDHA1 | c.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) | |
X | g.19358975T>A | CA412396191 | PDHA1 | c.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) | |
X | g.19358975T>C | CA412396192 | PDHA1 | c.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) | |
X | g.19358975T>G | CA412396193 | PDHA1 | c.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) | |
X | g.19358976_19359057dup | CA1131434219 | PDHA1 | c.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 |
X | g.19358976C>A | CA515486345 | PDHA1 | c.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 |
X | g.19358976C= | CA2418225243 | PDHA1 | c.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=) | |
X | g.19358976C>G | CA515486346 | PDHA1 | c.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=) | |
X | g.19358976C>T | CA515486347 | PDHA1 | c.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 |
X | g.19358977A>C | CA412396196 | PDHA1 | c.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 |
X | g.19358977A>G | CA412396194 | PDHA1 | c.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) | |
X | g.19358977A>T | CA412396195 | PDHA1 | c.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) | |
X | g.19358979_19358993dup | CA916083856 | PDHA1 | c.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 |
X | g.19358978A= | CA2418225244 | PDHA1 | c.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=) | |
X | g.19358978A>C | CA412396197 | PDHA1 | c.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) | |
X | g.19358978A>G | CA10363168 | PDHA1 | c.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 |
X | g.19358978A>T | CA412396198 | PDHA1 | c.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) | |
X | g.19358982_19358986del | CA2580100427 | PDHA1 | c.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 |
X | g.19358979G>A | CA515486349 | PDHA1 | c.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 |
X | g.19358979G>C | CA412396199 | PDHA1 | c.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) | |
X | g.19358979G= | CA2418225245 | PDHA1 | c.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=) | |
X | g.19358979G>T | CA412396200 | PDHA1 | c.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 |
X | g.19358980G>A | CA412396203 | PDHA1 | c.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) | |
X | g.19358980G>C | CA412396201 | PDHA1 | c.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) | |
X | g.19358980G>T | CA412396202 | PDHA1 | c.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) | |
X | g.19358981A>C | CA412396204 | PDHA1 | c.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) | |
X | g.19358981A>G | CA412396205 | PDHA1 | c.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) | |
X | g.19358981A>T | CA412396206 | PDHA1 | c.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) | |
X | g.19358982C>A | CA412396207 | PDHA1 | c.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 |
X | g.19358982C= | CA2418225246 | PDHA1 | c.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=) | |
X | g.19358982C>G | CA412396208 | PDHA1 | c.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) | |
X | g.19358982C>T | CA515486352 | PDHA1 | c.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 |
X | g.19358983A>C | CA515486354 | PDHA1 | c.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 |
X | g.19358983A>G | CA412396209 | PDHA1 | c.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) | |
X | g.19358983A>T | CA412396210 | PDHA1 | c.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) | |
X | g.19358984G>A | CA412396211 | PDHA1 | c.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 |
X | g.19358984G>C | CA412396212 | PDHA1 | c.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) | |
X | g.19358984G>T | CA412396213 | PDHA1 | c.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 |
X | g.19358984_19358996dup | CA2695231658 | PDHA1 | c.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) | |
X | g.19358985G>A | CA515486357 | PDHA1 | c.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 |
X | g.19358985G>C | CA412396214 | PDHA1 | c.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 |
X | g.19358985G= | CA2418225247 | PDHA1 | c.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=) | |
X | g.19358985G>T | CA412396215 | PDHA1 | c.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 |
X | g.19358986A>C | CA412396216 | PDHA1 | c.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) | |
X | g.19358986A>G | CA412396218 | PDHA1 | c.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) | |
X | g.19358986A>T | CA412396217 | PDHA1 | c.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) | |
X | g.19358987T>A | CA412396219 | PDHA1 | c.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) | |
X | g.19358987T>C | CA412396221 | PDHA1 | c.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) | |
X | g.19358987T>G | CA412396220 | PDHA1 | c.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) | |
X | g.19358989_19359051dup | CA2693251100 | PDHA1 | c.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 |
X | g.19358988G>A | CA10363169 | PDHA1 | c.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 |
X | g.19358988G>C | CA412396222 | PDHA1 | c.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) | |
X | g.19358988G= | CA2418225248 | PDHA1 | c.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=) | |
X | g.19358988G>T | CA412396223 | PDHA1 | c.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) | |
X | g.19358989G>A | CA412396224 | PDHA1 | c.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) | |
X | g.19358989G>C | CA412396225 | PDHA1 | c.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) | |
X | g.19358989G>T | CA412396226 | PDHA1 | c.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) | |
X | g.19358990T>A | CA412396227 | PDHA1 | c.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 |
X | g.19358990T>C | CA412396228 | PDHA1 | c.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 |
X | g.19358990T>G | CA412396229 | PDHA1 | c.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) | |
X | g.19358991G>A | CA515486362 | PDHA1 | c.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 |
X | g.19358991G>C | CA515486364 | PDHA1 | c.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=) | |
X | g.19358991G>T | CA515486366 | PDHA1 | c.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=) | |
X | g.19358991_19358992insGGACAGGATGGTGAA | CA2837995222 | PDHA1 | c.996_997insGGACAGGATGGTGAA (p.Val332_Asn333insGlyGlnAspGlyGlu) c.*667_*668insGGACAGGATGGTGAA (n.*667_*668insGGACAGGATGGTGAA) c.1059_1060insGGACAGGATGGTGAA (p.Val353_Asn354insGlyGlnAspGlyGlu) c.1089_1090insGGACAGGATGGTGAA (p.Val363_Asn364insGlyGlnAspGlyGlu) n.770_771insGGACAGGATGGTGAA c.*307_*308insGGACAGGATGGTGAA (n.*307_*308insGGACAGGATGGTGAA) c.*430_*431insGGACAGGATGGTGAA (n.*430_*431insGGACAGGATGGTGAA) c.975_976insGGACAGGATGGTGAA (p.Val325_Asn326insGlyGlnAspGlyGlu) c.132_133insGGACAGGATGGTGAA (p.Val44_Asn45insGlyGlnAspGlyGlu) n.414_415insGGACAGGATGGTGAA n.403_404insGGACAGGATGGTGAA c.882_883insGGACAGGATGGTGAA (p.Val294_Asn295insGlyGlnAspGlyGlu) c.1110_1111insGGACAGGATGGTGAA (p.Val370_Asn371insGlyGlnAspGlyGlu) c.1017_1018insGGACAGGATGGTGAA (p.Val339_Asn340insGlyGlnAspGlyGlu) | |
X | g.19358992A>C | CA412396230 | PDHA1 | c.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) | |
X | g.19358992A>G | CA412396231 | PDHA1 | c.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) | |
X | g.19358992A>T | CA412396232 | PDHA1 | c.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) | |
X | g.19358992_19358993insGGACAGGATGGTGAA | CA2695231659 | PDHA1 | c.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) | |
X | g.19358993A>C | CA412396235 | PDHA1 | c.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) | |
X | g.19358993A>G | CA412396233 | PDHA1 | c.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 |
X | g.19358993A>T | CA412396234 | PDHA1 | c.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) | |
X | g.19358993_19358996delinsACAG | CA2418225249 | PDHA1 | c.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=) | |
X | g.19358997_19359030dup | CA2573055207 | PDHA1 | c.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 |
X | g.19358994C>A | CA412396236 | PDHA1 | c.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 |
X | g.19358994C= | CA2418225250 | PDHA1 | c.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=) | |
X | g.19358994C>G | CA10363170 | PDHA1 | c.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 |
X | g.19358994C>T | CA10363171 | PDHA1 | c.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 |
X | g.19358996_19358998del | CA920400536 | PDHA1 | c.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 |
X | g.19358995A>C | CA412396237 | PDHA1 | c.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) | |
X | g.19358995A>G | CA412396238 | PDHA1 | c.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) | |
X | g.19358995A>T | CA412396239 | PDHA1 | c.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) | |
X | g.19358996G>A | CA412396240 | PDHA1 | c.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 |
X | g.19358996G>C | CA412396241 | PDHA1 | c.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) | |
X | g.19358996G>T | CA412396242 | PDHA1 | c.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) | |
X | g.19358997C>A | CA412396243 | PDHA1 | c.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 |
X | g.19358997C>G | CA412396244 | PDHA1 | c.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) | |
X | g.19358997C>T | CA515486368 | PDHA1 | c.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 |
X | g.19358998_19359001dup | CA2695231660 | PDHA1 | c.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) | |
X | g.19358998A>C | CA412396247 | PDHA1 | c.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) | |
X | g.19358998A>G | CA412396246 | PDHA1 | c.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) | |
X | g.19358998A>T | CA412396245 | PDHA1 | c.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) | |
X | g.19358999A= | CA2418225251 | PDHA1 | c.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=) | |
X | g.19358999A>C | CA412396248 | PDHA1 | c.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) | |
X | g.19358999A>G | CA10363172 | PDHA1 | c.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 |
X | g.19358999A>T | CA412396249 | PDHA1 | c.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) | |
X | g.19359000T>A | CA412396250 | PDHA1 | c.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) | |
X | g.19359000T>C | CA208258 | PDHA1 | c.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 |
X | g.19359000T>G | CA412396251 | PDHA1 | c.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) | |
X | g.19359000T= | CA2418225252 | PDHA1 | c.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=) | |
X | g.19359001C>A | CA412396252 | PDHA1 | c.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 |
X | g.19359001C>G | CA412396253 | PDHA1 | c.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) | |
X | g.19359001C>T | CA412396254 | PDHA1 | c.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 |
X | g.19359001_19359014dup | CA324481 | PDHA1 | c.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 |
X | g.19359002T>A | CA412396255 | PDHA1 | c.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) | |
X | g.19359002T>C | CA412396256 | PDHA1 | c.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 |
X | g.19359002T>G | CA412396257 | PDHA1 | c.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) | |
X | g.19359002_19359014dup | CA2695231661 | PDHA1 | c.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) | |
X | g.19359003T>A | CA515486372 | PDHA1 | c.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=) | |
X | g.19359003T>C | CA515486373 | PDHA1 | c.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=) | |
X | g.19359003T>G | CA515486374 | PDHA1 | c.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=) | |
X | g.19359004G>A | CA412396260 | PDHA1 | c.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) | |
X | g.19359004G>C | CA412396258 | PDHA1 | c.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) | |
X | g.19359004G>T | CA412396259 | PDHA1 | c.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) | |
X | g.19359005C>A | CA412396261 | PDHA1 | c.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 |
X | g.19359005C= | CA2418225253 | PDHA1 | c.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=) | |
X | g.19359005C>G | CA412396262 | PDHA1 | c.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 |
X | g.19359005C>T | CA412396263 | PDHA1 | c.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 |
X | g.19359006C>A | CA515486379 | PDHA1 | c.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 |
X | g.19359006C= | CA2418225254 | PDHA1 | c.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=) | |
X | g.19359006C>G | CA515486380 | PDHA1 | c.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=) | |
X | g.19359006C>T | CA515486381 | PDHA1 | c.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 |
X | g.19359007_19359019dup | CA2580100429 | PDHA1 | c.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 |
X | g.19359007A>C | CA412396264 | PDHA1 | c.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) | |
X | g.19359007A>G | CA412396265 | PDHA1 | c.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) | |
X | g.19359007A>T | CA412396266 | PDHA1 | c.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) | |
X | g.19359008G>A | CA412396267 | PDHA1 | c.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 |
X | g.19359008G>C | CA412396268 | PDHA1 | c.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) | |
X | g.19359008G>T | CA412396269 | PDHA1 | c.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 |
X | g.19359009T>A | CA412396270 | PDHA1 | c.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) | |
X | g.19359009T>C | CA515486383 | PDHA1 | c.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=) | |
X | g.19359009T>G | CA412396271 | PDHA1 | c.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) | |
X | g.19359010G>A | CA412396272 | PDHA1 | c.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 |
X | g.19359010G>C | CA412396274 | PDHA1 | c.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) | |
X | g.19359010G= | CA2418225255 | PDHA1 | c.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=) | |
X | g.19359010G>T | CA412396273 | PDHA1 | c.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) | |
X | g.19359011T>A | CA412396275 | PDHA1 | c.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) | |
X | g.19359011T>C | CA412396277 | PDHA1 | c.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) | |
X | g.19359011T>G | CA412396276 | PDHA1 | c.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) | |
X | g.19359014_19359044dup | CA1139667329 | PDHA1 | c.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 |
X | g.19359012G>A | CA515486385 | PDHA1 | c.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 |
X | g.19359012G>C | CA515486386 | PDHA1 | c.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=) | |
X | g.19359012G= | CA2418225256 | PDHA1 | c.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=) | |
X | g.19359012G>T | CA515486387 | PDHA1 | c.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 |
X | g.19359013del | CA2693251101 | PDHA1 | c.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 |