| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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=) |