| 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.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.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) |