| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19350111_19351408dup | CA913191131 | PDHA1 | c.291+1_439+1dup c.291+1_418+1dup c.375+1_502+1dup c.405+1_532+1dup n.393+1_521dup c.405+1_553+1dup | ClinVar |
| X | g.19351269C>A | CA412390781 | PDHA1 | c.301C>A (p.Pro101Thr) c.292-12C>A (n.292-12C>A) c.376-12C>A (n.376-12C>A) c.406-12C>A (n.406-12C>A) n.394-12C>A c.415C>A (p.Pro139Thr) | |
| X | g.19351269C= | CA2418222088 | PDHA1 | c.301C= (p.Pro101=) c.292-12C= (n.292-12C=) c.376-12C= (n.376-12C=) c.406-12C= (n.406-12C=) n.394-12C= c.415C= (p.Pro139=) | |
| X | g.19351269C>G | CA412390785 | PDHA1 | c.301C>G (p.Pro101Ala) c.292-12C>G (n.292-12C>G) c.376-12C>G (n.376-12C>G) c.406-12C>G (n.406-12C>G) n.394-12C>G c.415C>G (p.Pro139Ala) | |
| X | g.19351269C>T | CA412390783 | PDHA1 | c.301C>T (p.Pro101Ser) c.292-12C>T (n.292-12C>T) c.376-12C>T (n.376-12C>T) c.406-12C>T (n.406-12C>T) n.394-12C>T c.415C>T (p.Pro139Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351270C>A | CA412390787 | PDHA1 | c.302C>A (p.Pro101His) c.292-11C>A (n.292-11C>A) c.376-11C>A (n.376-11C>A) c.406-11C>A (n.406-11C>A) n.394-11C>A c.416C>A (p.Pro139His) | gnomAD v4 |
| X | g.19351270C= | CA2418222089 | PDHA1 | c.302C= (p.Pro101=) c.292-11C= (n.292-11C=) c.376-11C= (n.376-11C=) c.406-11C= (n.406-11C=) n.394-11C= c.416C= (p.Pro139=) | |
| X | g.19351270C>G | CA412390789 | PDHA1 | c.302C>G (p.Pro101Arg) c.292-11C>G (n.292-11C>G) c.376-11C>G (n.376-11C>G) c.406-11C>G (n.406-11C>G) n.394-11C>G c.416C>G (p.Pro139Arg) | |
| X | g.19351270C>T | CA10363021 | PDHA1 | c.302C>T (p.Pro101Leu) c.292-11C>T (n.292-11C>T) c.376-11C>T (n.376-11C>T) c.406-11C>T (n.406-11C>T) n.394-11C>T c.416C>T (p.Pro139Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351271T>A | CA2693249839 | PDHA1 | c.303T>A (p.Pro101=) c.292-10T>A (n.292-10T>A) c.376-10T>A (n.376-10T>A) c.406-10T>A (n.406-10T>A) n.394-10T>A c.417T>A (p.Pro139=) | gnomAD v4 |
| X | g.19351272C>A | CA412390792 | PDHA1 | c.304C>A (p.Leu102Ile) c.292-9C>A (n.292-9C>A) c.376-9C>A (n.376-9C>A) c.406-9C>A (n.406-9C>A) n.394-9C>A c.418C>A (p.Leu140Ile) | |
| X | g.19351272C= | CA2418222090 | PDHA1 | c.304C= (p.Leu102=) c.292-9C= (n.292-9C=) c.376-9C= (n.376-9C=) c.406-9C= (n.406-9C=) n.394-9C= c.418C= (p.Leu140=) | |
| X | g.19351272C>G | CA327024417 | PDHA1 | c.304C>G (p.Leu102Val) c.292-9C>G (n.292-9C>G) c.376-9C>G (n.376-9C>G) c.406-9C>G (n.406-9C>G) n.394-9C>G c.418C>G (p.Leu140Val) | dbSNP gnomAD v4 |
| X | g.19351272C>T | CA2499226548 | PDHA1 | c.304C>T (p.Leu102=) c.292-9C>T (n.292-9C>T) c.376-9C>T (n.376-9C>T) c.406-9C>T (n.406-9C>T) n.394-9C>T c.418C>T (p.Leu140=) | ClinVar dbSNP |
| X | g.19351273T>A | CA412390794 | PDHA1 | c.305T>A (p.Leu102Gln) c.292-8T>A (n.292-8T>A) c.376-8T>A (n.376-8T>A) c.406-8T>A (n.406-8T>A) n.394-8T>A c.419T>A (p.Leu140Gln) | ClinVar |
| X | g.19351273T>C | CA412390796 | PDHA1 | c.305T>C (p.Leu102Pro) c.292-8T>C (n.292-8T>C) c.376-8T>C (n.376-8T>C) c.406-8T>C (n.406-8T>C) n.394-8T>C c.419T>C (p.Leu140Pro) | |
| X | g.19351273T>G | CA412390798 | PDHA1 | c.305T>G (p.Leu102Arg) c.292-8T>G (n.292-8T>G) c.376-8T>G (n.376-8T>G) c.406-8T>G (n.406-8T>G) n.394-8T>G c.419T>G (p.Leu140Arg) | |
| X | g.19351274A>G | CA2499226549 | PDHA1 | c.306A>G (p.Leu102=) c.292-7A>G (n.292-7A>G) c.376-7A>G (n.376-7A>G) c.406-7A>G (n.406-7A>G) n.394-7A>G c.420A>G (p.Leu140=) | ClinVar dbSNP |
| X | g.19351275del | CA2579566220 | PDHA1 | c.307del (p.Thr103HisfsTer?) c.292-6del (n.292-6del) c.376-6del (n.376-6del) c.406-6del (n.406-6del) n.394-6del c.421del (p.Thr141HisfsTer?) | |
| X | g.19351275A>C | CA412390800 | PDHA1 | c.307A>C (p.Thr103Pro) c.292-6A>C (n.292-6A>C) c.376-6A>C (n.376-6A>C) c.406-6A>C (n.406-6A>C) n.394-6A>C c.421A>C (p.Thr141Pro) | |
| X | g.19351275A>G | CA412390801 | PDHA1 | c.307A>G (p.Thr103Ala) c.292-6A>G (n.292-6A>G) c.376-6A>G (n.376-6A>G) c.406-6A>G (n.406-6A>G) n.394-6A>G c.421A>G (p.Thr141Ala) | |
| X | g.19351275A>T | CA412390803 | PDHA1 | c.307A>T (p.Thr103Ser) c.292-6A>T (n.292-6A>T) c.376-6A>T (n.376-6A>T) c.406-6A>T (n.406-6A>T) n.394-6A>T c.421A>T (p.Thr141Ser) | gnomAD v4 |
| X | g.19351276C>A | CA412390805 | PDHA1 | c.308C>A (p.Thr103Lys) c.292-5C>A (n.292-5C>A) c.376-5C>A (n.376-5C>A) c.406-5C>A (n.406-5C>A) n.394-5C>A c.422C>A (p.Thr141Lys) | |
| X | g.19351276C= | CA2418222091 | PDHA1 | c.308C= (p.Thr103=) c.292-5C= (n.292-5C=) c.376-5C= (n.376-5C=) c.406-5C= (n.406-5C=) n.394-5C= c.422C= (p.Thr141=) | |
| X | g.19351276C>G | CA412390807 | PDHA1 | c.308C>G (p.Thr103Arg) c.292-5C>G (n.292-5C>G) c.376-5C>G (n.376-5C>G) c.406-5C>G (n.406-5C>G) n.394-5C>G c.422C>G (p.Thr141Arg) | |
| X | g.19351276C>T | CA10363022 | PDHA1 | c.308C>T (p.Thr103Ile) c.292-5C>T (n.292-5C>T) c.376-5C>T (n.376-5C>T) c.406-5C>T (n.406-5C>T) n.394-5C>T c.422C>T (p.Thr141Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351278C>A | CA412390815 | PDHA1 | c.310C>A (p.Gln104Lys) c.292-3C>A (n.292-3C>A) c.376-3C>A (n.376-3C>A) c.406-3C>A (n.406-3C>A) n.394-3C>A c.424C>A (p.Gln142Lys) | gnomAD v4 |
| X | g.19351278C>G | CA412390813 | PDHA1 | c.310C>G (p.Gln104Glu) c.292-3C>G (n.292-3C>G) c.376-3C>G (n.376-3C>G) c.406-3C>G (n.406-3C>G) n.394-3C>G c.424C>G (p.Gln142Glu) | |
| X | g.19351278C>T | CA412390811 | PDHA1 | c.310C>T (p.Gln104Ter) c.292-3C>T (n.292-3C>T) c.376-3C>T (n.376-3C>T) c.406-3C>T (n.406-3C>T) n.394-3C>T c.424C>T (p.Gln142Ter) | |
| X | g.19351279A>C | CA412390818 | PDHA1 | c.311A>C (p.Gln104Pro) c.292-2A>C (n.292-2A>C) c.376-2A>C (n.376-2A>C) c.406-2A>C (n.406-2A>C) n.394-2A>C c.425A>C (p.Gln142Pro) | |
| X | g.19351279A>G | CA412390820 | PDHA1 | c.311A>G (p.Gln104Arg) c.292-2A>G (n.292-2A>G) c.376-2A>G (n.376-2A>G) c.406-2A>G (n.406-2A>G) n.394-2A>G c.425A>G (p.Gln142Arg) | |
| X | g.19351279A>T | CA412390822 | PDHA1 | c.311A>T (p.Gln104Leu) c.292-2A>T (n.292-2A>T) c.376-2A>T (n.376-2A>T) c.406-2A>T (n.406-2A>T) n.394-2A>T c.425A>T (p.Gln142Leu) | |
| X | g.19351280G>A | CA323036 | PDHA1 | c.312G>A (p.Gln104=) c.292-1G>A (n.292-1G>A) c.376-1G>A (n.376-1G>A) c.406-1G>A (n.406-1G>A) n.394-1G>A c.426G>A (p.Gln142=) | ClinVar dbSNP |
| X | g.19351280G>C | CA412390826 | PDHA1 | c.312G>C (p.Gln104His) c.292-1G>C (n.292-1G>C) c.376-1G>C (n.376-1G>C) c.406-1G>C (n.406-1G>C) n.394-1G>C c.426G>C (p.Gln142His) | |
| X | g.19351280G= | CA2418222092 | PDHA1 | c.312G= (p.Gln104=) c.292-1G= (n.292-1G=) c.376-1G= (n.376-1G=) c.406-1G= (n.406-1G=) n.394-1G= c.426G= (p.Gln142=) | |
| X | g.19351280G>T | CA412390827 | PDHA1 | c.312G>T (p.Gln104His) c.292-1G>T (n.292-1G>T) c.376-1G>T (n.376-1G>T) c.406-1G>T (n.406-1G>T) n.394-1G>T c.426G>T (p.Gln142His) | |
| X | g.19351281G>A | CA412390829 | PDHA1 | c.313G>A (p.Glu105Lys) c.292G>A (p.Glu98Lys) c.376G>A (p.Glu126Lys) c.406G>A (p.Glu136Lys) n.394G>A c.427G>A (p.Glu143Lys) | |
| X | g.19351281G>C | CA412390831 | PDHA1 | c.313G>C (p.Glu105Gln) c.292G>C (p.Glu98Gln) c.376G>C (p.Glu126Gln) c.406G>C (p.Glu136Gln) n.394G>C c.427G>C (p.Glu143Gln) | |
| X | g.19351281G>T | CA412390833 | PDHA1 | c.313G>T (p.Glu105Ter) c.292G>T (p.Glu98Ter) c.376G>T (p.Glu126Ter) c.406G>T (p.Glu136Ter) n.394G>T c.427G>T (p.Glu143Ter) | |
| X | g.19351282A>C | CA412390836 | PDHA1 | c.314A>C (p.Glu105Ala) c.293A>C (p.Glu98Ala) c.377A>C (p.Glu126Ala) c.407A>C (p.Glu136Ala) n.395A>C c.428A>C (p.Glu143Ala) | |
| X | g.19351282A>G | CA412390837 | PDHA1 | c.314A>G (p.Glu105Gly) c.293A>G (p.Glu98Gly) c.377A>G (p.Glu126Gly) c.407A>G (p.Glu136Gly) n.395A>G c.428A>G (p.Glu143Gly) | |
| X | g.19351282A>T | CA412390839 | PDHA1 | c.314A>T (p.Glu105Val) c.293A>T (p.Glu98Val) c.377A>T (p.Glu126Val) c.407A>T (p.Glu136Val) n.395A>T c.428A>T (p.Glu143Val) | |
| X | g.19351283A= | CA2418222093 | PDHA1 | c.315A= (p.Glu105=) c.294A= (p.Glu98=) c.378A= (p.Glu126=) c.408A= (p.Glu136=) n.396A= c.429A= (p.Glu143=) | |
| X | g.19351283A>C | CA412390843 | PDHA1 | c.315A>C (p.Glu105Asp) c.294A>C (p.Glu98Asp) c.378A>C (p.Glu126Asp) c.408A>C (p.Glu136Asp) n.396A>C c.429A>C (p.Glu143Asp) | |
| X | g.19351283A>G | CA515485502 | PDHA1 | c.315A>G (p.Glu105=) c.294A>G (p.Glu98=) c.378A>G (p.Glu126=) c.408A>G (p.Glu136=) n.396A>G c.429A>G (p.Glu143=) | ClinVar dbSNP |
| X | g.19351283A>T | CA412390842 | PDHA1 | c.315A>T (p.Glu105Asp) c.294A>T (p.Glu98Asp) c.378A>T (p.Glu126Asp) c.408A>T (p.Glu136Asp) n.396A>T c.429A>T (p.Glu143Asp) | |
| X | g.19351284G>A | CA412390845 | PDHA1 | c.316G>A (p.Ala106Thr) c.295G>A (p.Ala99Thr) c.379G>A (p.Ala127Thr) c.409G>A (p.Ala137Thr) n.397G>A c.430G>A (p.Ala144Thr) | |
| X | g.19351284G>C | CA412390847 | PDHA1 | c.316G>C (p.Ala106Pro) c.295G>C (p.Ala99Pro) c.379G>C (p.Ala127Pro) c.409G>C (p.Ala137Pro) n.397G>C c.430G>C (p.Ala144Pro) | |
| X | g.19351284G>T | CA412390850 | PDHA1 | c.316G>T (p.Ala106Ser) c.295G>T (p.Ala99Ser) c.379G>T (p.Ala127Ser) c.409G>T (p.Ala137Ser) n.397G>T c.430G>T (p.Ala144Ser) | |
| X | g.19351285C>A | CA412390852 | PDHA1 | c.317C>A (p.Ala106Asp) c.296C>A (p.Ala99Asp) c.380C>A (p.Ala127Asp) c.410C>A (p.Ala137Asp) n.398C>A c.431C>A (p.Ala144Asp) | |
| X | g.19351285C>G | CA412390854 | PDHA1 | c.317C>G (p.Ala106Gly) c.296C>G (p.Ala99Gly) c.380C>G (p.Ala127Gly) c.410C>G (p.Ala137Gly) n.398C>G c.431C>G (p.Ala144Gly) | |
| X | g.19351285C>T | CA412390855 | PDHA1 | c.317C>T (p.Ala106Val) c.296C>T (p.Ala99Val) c.380C>T (p.Ala127Val) c.410C>T (p.Ala137Val) n.398C>T c.431C>T (p.Ala144Val) | |
| X | g.19351286T>A | CA515485503 | PDHA1 | c.318T>A (p.Ala106=) c.297T>A (p.Ala99=) c.381T>A (p.Ala127=) c.411T>A (p.Ala137=) n.399T>A c.432T>A (p.Ala144=) | |
| X | g.19351286T>C | CA515485504 | PDHA1 | c.318T>C (p.Ala106=) c.297T>C (p.Ala99=) c.381T>C (p.Ala127=) c.411T>C (p.Ala137=) n.399T>C c.432T>C (p.Ala144=) | |
| X | g.19351286T>G | CA515485505 | PDHA1 | c.318T>G (p.Ala106=) c.297T>G (p.Ala99=) c.381T>G (p.Ala127=) c.411T>G (p.Ala137=) n.399T>G c.432T>G (p.Ala144=) | |
| X | g.19351287T>A | CA412390862 | PDHA1 | c.319T>A (p.Cys107Ser) c.298T>A (p.Cys100Ser) c.382T>A (p.Cys128Ser) c.412T>A (p.Cys138Ser) n.400T>A c.433T>A (p.Cys145Ser) | |
| X | g.19351287T>C | CA412390859 | PDHA1 | c.319T>C (p.Cys107Arg) c.298T>C (p.Cys100Arg) c.382T>C (p.Cys128Arg) c.412T>C (p.Cys138Arg) n.400T>C c.433T>C (p.Cys145Arg) | |
| X | g.19351287T>G | CA412390860 | PDHA1 | c.319T>G (p.Cys107Gly) c.298T>G (p.Cys100Gly) c.382T>G (p.Cys128Gly) c.412T>G (p.Cys138Gly) n.400T>G c.433T>G (p.Cys145Gly) | |
| X | g.19351288G>A | CA412390864 | PDHA1 | c.320G>A (p.Cys107Tyr) c.299G>A (p.Cys100Tyr) c.383G>A (p.Cys128Tyr) c.413G>A (p.Cys138Tyr) n.401G>A c.434G>A (p.Cys145Tyr) | |
| X | g.19351288G>C | CA412390866 | PDHA1 | c.320G>C (p.Cys107Ser) c.299G>C (p.Cys100Ser) c.383G>C (p.Cys128Ser) c.413G>C (p.Cys138Ser) n.401G>C c.434G>C (p.Cys145Ser) | |
| X | g.19351288G= | CA2418222094 | PDHA1 | c.320G= (p.Cys107=) c.299G= (p.Cys100=) c.383G= (p.Cys128=) c.413G= (p.Cys138=) n.401G= c.434G= (p.Cys145=) | |
| X | g.19351288G>T | CA412390868 | PDHA1 | c.320G>T (p.Cys107Phe) c.299G>T (p.Cys100Phe) c.383G>T (p.Cys128Phe) c.413G>T (p.Cys138Phe) n.401G>T c.434G>T (p.Cys145Phe) | |
| X | g.19351289C>A | CA412390870 | PDHA1 | c.321C>A (p.Cys107Ter) c.300C>A (p.Cys100Ter) c.384C>A (p.Cys128Ter) c.414C>A (p.Cys138Ter) n.402C>A c.435C>A (p.Cys145Ter) | |
| X | g.19351289C= | CA2418222095 | PDHA1 | c.321C= (p.Cys107=) c.300C= (p.Cys100=) c.384C= (p.Cys128=) c.414C= (p.Cys138=) n.402C= c.435C= (p.Cys145=) | |
| X | g.19351289C>G | CA412390872 | PDHA1 | c.321C>G (p.Cys107Trp) c.300C>G (p.Cys100Trp) c.384C>G (p.Cys128Trp) c.414C>G (p.Cys138Trp) n.402C>G c.435C>G (p.Cys145Trp) | |
| X | g.19351289C>T | CA327024437 | PDHA1 | c.321C>T (p.Cys107=) c.300C>T (p.Cys100=) c.384C>T (p.Cys128=) c.414C>T (p.Cys138=) n.402C>T c.435C>T (p.Cys145=) | ClinVar dbSNP gnomAD v4 |
| X | g.19351289_19351290dup | CA891862974 | PDHA1 | c.321_322dup (p.Cys108SerfsTer?) c.300_301dup (p.Cys101SerfsTer?) c.384_385dup (p.Cys129SerfsTer?) c.414_415dup (p.Cys139SerfsTer?) n.402_403dup c.435_436dup (p.Cys146SerfsTer?) | ClinVar dbSNP |
| X | g.19351290T>A | CA412390875 | PDHA1 | c.322T>A (p.Cys108Ser) c.301T>A (p.Cys101Ser) c.385T>A (p.Cys129Ser) c.415T>A (p.Cys139Ser) n.403T>A c.436T>A (p.Cys146Ser) | |
| X | g.19351290T>C | CA412390878 | PDHA1 | c.322T>C (p.Cys108Arg) c.301T>C (p.Cys101Arg) c.385T>C (p.Cys129Arg) c.415T>C (p.Cys139Arg) n.403T>C c.436T>C (p.Cys146Arg) | |
| X | g.19351290T>G | CA412390876 | PDHA1 | c.322T>G (p.Cys108Gly) c.301T>G (p.Cys101Gly) c.385T>G (p.Cys129Gly) c.415T>G (p.Cys139Gly) n.403T>G c.436T>G (p.Cys146Gly) | |
| X | g.19351291G>A | CA412390881 | PDHA1 | c.323G>A (p.Cys108Tyr) c.302G>A (p.Cys101Tyr) c.386G>A (p.Cys129Tyr) c.416G>A (p.Cys139Tyr) n.404G>A c.437G>A (p.Cys146Tyr) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351291G>C | CA412390883 | PDHA1 | c.323G>C (p.Cys108Ser) c.302G>C (p.Cys101Ser) c.386G>C (p.Cys129Ser) c.416G>C (p.Cys139Ser) n.404G>C c.437G>C (p.Cys146Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351291G= | CA2418222096 | PDHA1 | c.323G= (p.Cys108=) c.302G= (p.Cys101=) c.386G= (p.Cys129=) c.416G= (p.Cys139=) n.404G= c.437G= (p.Cys146=) | |
| X | g.19351291G>T | CA412390884 | PDHA1 | c.323G>T (p.Cys108Phe) c.302G>T (p.Cys101Phe) c.386G>T (p.Cys129Phe) c.416G>T (p.Cys139Phe) n.404G>T c.437G>T (p.Cys146Phe) | |
| X | g.19351292T>A | CA412390887 | PDHA1 | c.324T>A (p.Cys108Ter) c.303T>A (p.Cys101Ter) c.387T>A (p.Cys129Ter) c.417T>A (p.Cys139Ter) n.405T>A c.438T>A (p.Cys146Ter) | |
| X | g.19351292T>C | CA515485506 | PDHA1 | c.324T>C (p.Cys108=) c.303T>C (p.Cys101=) c.387T>C (p.Cys129=) c.417T>C (p.Cys139=) n.405T>C c.438T>C (p.Cys146=) | |
| X | g.19351292T>G | CA412390889 | PDHA1 | c.324T>G (p.Cys108Trp) c.303T>G (p.Cys101Trp) c.387T>G (p.Cys129Trp) c.417T>G (p.Cys139Trp) n.405T>G c.438T>G (p.Cys146Trp) | ClinVar dbSNP |
| X | g.19351292T= | CA2418222097 | PDHA1 | c.324T= (p.Cys108=) c.303T= (p.Cys101=) c.387T= (p.Cys129=) c.417T= (p.Cys139=) n.405T= c.438T= (p.Cys146=) | |
| X | g.19351293G>A | CA412390892 | PDHA1 | c.325G>A (p.Val109Met) c.304G>A (p.Val102Met) c.388G>A (p.Val130Met) c.418G>A (p.Val140Met) n.406G>A c.439G>A (p.Val147Met) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19351293G>C | CA412390893 | PDHA1 | c.325G>C (p.Val109Leu) c.304G>C (p.Val102Leu) c.388G>C (p.Val130Leu) c.418G>C (p.Val140Leu) n.406G>C c.439G>C (p.Val147Leu) | |
| X | g.19351293G= | CA2418222098 | PDHA1 | c.325G= (p.Val109=) c.304G= (p.Val102=) c.388G= (p.Val130=) c.418G= (p.Val140=) n.406G= c.439G= (p.Val147=) | |
| X | g.19351293G>T | CA412390896 | PDHA1 | c.325G>T (p.Val109Leu) c.304G>T (p.Val102Leu) c.388G>T (p.Val130Leu) c.418G>T (p.Val140Leu) n.406G>T c.439G>T (p.Val147Leu) | |
| X | g.19351294T>A | CA412390898 | PDHA1 | c.326T>A (p.Val109Glu) c.305T>A (p.Val102Glu) c.389T>A (p.Val130Glu) c.419T>A (p.Val140Glu) n.407T>A c.440T>A (p.Val147Glu) | |
| X | g.19351294T>C | CA412390900 | PDHA1 | c.326T>C (p.Val109Ala) c.305T>C (p.Val102Ala) c.389T>C (p.Val130Ala) c.419T>C (p.Val140Ala) n.407T>C c.440T>C (p.Val147Ala) | |
| X | g.19351294T>G | CA412390902 | PDHA1 | c.326T>G (p.Val109Gly) c.305T>G (p.Val102Gly) c.389T>G (p.Val130Gly) c.419T>G (p.Val140Gly) n.407T>G c.440T>G (p.Val147Gly) | |
| X | g.19351295G>A | CA515485507 | PDHA1 | c.327G>A (p.Val109=) c.306G>A (p.Val102=) c.390G>A (p.Val130=) c.420G>A (p.Val140=) n.408G>A c.441G>A (p.Val147=) | |
| X | g.19351295G>C | CA515485508 | PDHA1 | c.327G>C (p.Val109=) c.306G>C (p.Val102=) c.390G>C (p.Val130=) c.420G>C (p.Val140=) n.408G>C c.441G>C (p.Val147=) | |
| X | g.19351295G= | CA2418222099 | PDHA1 | c.327G= (p.Val109=) c.306G= (p.Val102=) c.390G= (p.Val130=) c.420G= (p.Val140=) n.408G= c.441G= (p.Val147=) | |
| X | g.19351295G>T | CA515485509 | PDHA1 | c.327G>T (p.Val109=) c.306G>T (p.Val102=) c.390G>T (p.Val130=) c.420G>T (p.Val140=) n.408G>T c.441G>T (p.Val147=) | ClinVar dbSNP |
| X | g.19351297dup | CA2579566221 | PDHA1 | c.329dup (p.Leu111ProfsTer?) c.308dup (p.Leu104ProfsTer?) c.392dup (p.Leu132ProfsTer?) c.422dup (p.Leu142ProfsTer?) n.410dup c.443dup (p.Leu149ProfsTer?) | |
| X | g.19351296G>A | CA412390904 | PDHA1 | c.328G>A (p.Gly110Ser) c.307G>A (p.Gly103Ser) c.391G>A (p.Gly131Ser) c.421G>A (p.Gly141Ser) n.409G>A c.442G>A (p.Gly148Ser) | |
| X | g.19351296G>C | CA412390908 | PDHA1 | c.328G>C (p.Gly110Arg) c.307G>C (p.Gly103Arg) c.391G>C (p.Gly131Arg) c.421G>C (p.Gly141Arg) n.409G>C c.442G>C (p.Gly148Arg) | |
| X | g.19351296G>T | CA412390906 | PDHA1 | c.328G>T (p.Gly110Cys) c.307G>T (p.Gly103Cys) c.391G>T (p.Gly131Cys) c.421G>T (p.Gly141Cys) n.409G>T c.442G>T (p.Gly148Cys) | |
| X | g.19351297G>A | CA412390910 | PDHA1 | c.329G>A (p.Gly110Asp) c.308G>A (p.Gly103Asp) c.392G>A (p.Gly131Asp) c.422G>A (p.Gly141Asp) n.410G>A c.443G>A (p.Gly148Asp) | |
| X | g.19351297G>C | CA412390914 | PDHA1 | c.329G>C (p.Gly110Ala) c.308G>C (p.Gly103Ala) c.392G>C (p.Gly131Ala) c.422G>C (p.Gly141Ala) n.410G>C c.443G>C (p.Gly148Ala) | |
| X | g.19351297G>T | CA412390912 | PDHA1 | c.329G>T (p.Gly110Val) c.308G>T (p.Gly103Val) c.392G>T (p.Gly131Val) c.422G>T (p.Gly141Val) n.410G>T c.443G>T (p.Gly148Val) | |
| X | g.19351298C>A | CA515485510 | PDHA1 | c.330C>A (p.Gly110=) c.309C>A (p.Gly103=) c.393C>A (p.Gly131=) c.423C>A (p.Gly141=) n.411C>A c.444C>A (p.Gly148=) | |
| X | g.19351298C>G | CA515485511 | PDHA1 | c.330C>G (p.Gly110=) c.309C>G (p.Gly103=) c.393C>G (p.Gly131=) c.423C>G (p.Gly141=) n.411C>G c.444C>G (p.Gly148=) | |
| X | g.19351298C>T | CA515485512 | PDHA1 | c.330C>T (p.Gly110=) c.309C>T (p.Gly103=) c.393C>T (p.Gly131=) c.423C>T (p.Gly141=) n.411C>T c.444C>T (p.Gly148=) | |
| X | g.19351299del | CA2579566222 | PDHA1 | c.331del (p.Leu111TrpfsTer?) c.310del (p.Leu104TrpfsTer?) c.394del (p.Leu132TrpfsTer?) c.424del (p.Leu142TrpfsTer?) n.412del c.445del (p.Leu149TrpfsTer?) | |
| X | g.19351299C>A | CA412390916 | PDHA1 | c.331C>A (p.Leu111Met) c.310C>A (p.Leu104Met) c.394C>A (p.Leu132Met) c.424C>A (p.Leu142Met) n.412C>A c.445C>A (p.Leu149Met) | |
| X | g.19351299C= | CA2418222100 | PDHA1 | c.331C= (p.Leu111=) c.310C= (p.Leu104=) c.394C= (p.Leu132=) c.424C= (p.Leu142=) n.412C= c.445C= (p.Leu149=) | |
| X | g.19351299C>G | CA412390918 | PDHA1 | c.331C>G (p.Leu111Val) c.310C>G (p.Leu104Val) c.394C>G (p.Leu132Val) c.424C>G (p.Leu142Val) n.412C>G c.445C>G (p.Leu149Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351299C>T | CA515485513 | PDHA1 | c.331C>T (p.Leu111=) c.310C>T (p.Leu104=) c.394C>T (p.Leu132=) c.424C>T (p.Leu142=) n.412C>T c.445C>T (p.Leu149=) | |
| X | g.19351300T>A | CA412390920 | PDHA1 | c.332T>A (p.Leu111Gln) c.311T>A (p.Leu104Gln) c.395T>A (p.Leu132Gln) c.425T>A (p.Leu142Gln) n.413T>A c.446T>A (p.Leu149Gln) | |
| X | g.19351300T>C | CA302973 | PDHA1 | c.332T>C (p.Leu111Pro) c.311T>C (p.Leu104Pro) c.395T>C (p.Leu132Pro) c.425T>C (p.Leu142Pro) n.413T>C c.446T>C (p.Leu149Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.19351300T>G | CA412390922 | PDHA1 | c.332T>G (p.Leu111Arg) c.311T>G (p.Leu104Arg) c.395T>G (p.Leu132Arg) c.425T>G (p.Leu142Arg) n.413T>G c.446T>G (p.Leu149Arg) | |
| X | g.19351300T= | CA2418222101 | PDHA1 | c.332T= (p.Leu111=) c.311T= (p.Leu104=) c.395T= (p.Leu132=) c.425T= (p.Leu142=) n.413T= c.446T= (p.Leu149=) | |
| X | g.19351301G>A | CA515485516 | PDHA1 | c.333G>A (p.Leu111=) c.312G>A (p.Leu104=) c.396G>A (p.Leu132=) c.426G>A (p.Leu142=) n.414G>A c.447G>A (p.Leu149=) | gnomAD v4 |
| X | g.19351301G>C | CA515485515 | PDHA1 | c.333G>C (p.Leu111=) c.312G>C (p.Leu104=) c.396G>C (p.Leu132=) c.426G>C (p.Leu142=) n.414G>C c.447G>C (p.Leu149=) | |
| X | g.19351301G>T | CA515485514 | PDHA1 | c.333G>T (p.Leu111=) c.312G>T (p.Leu104=) c.396G>T (p.Leu132=) c.426G>T (p.Leu142=) n.414G>T c.447G>T (p.Leu149=) | |
| X | g.19351302G>A | CA412390925 | PDHA1 | c.334G>A (p.Glu112Lys) c.313G>A (p.Glu105Lys) c.397G>A (p.Glu133Lys) c.427G>A (p.Glu143Lys) n.415G>A c.448G>A (p.Glu150Lys) | |
| X | g.19351302G>C | CA412390927 | PDHA1 | c.334G>C (p.Glu112Gln) c.313G>C (p.Glu105Gln) c.397G>C (p.Glu133Gln) c.427G>C (p.Glu143Gln) n.415G>C c.448G>C (p.Glu150Gln) | |
| X | g.19351302G>T | CA412390929 | PDHA1 | c.334G>T (p.Glu112Ter) c.313G>T (p.Glu105Ter) c.397G>T (p.Glu133Ter) c.427G>T (p.Glu143Ter) n.415G>T c.448G>T (p.Glu150Ter) | |
| X | g.19351303A>C | CA412390932 | PDHA1 | c.335A>C (p.Glu112Ala) c.314A>C (p.Glu105Ala) c.398A>C (p.Glu133Ala) c.428A>C (p.Glu143Ala) n.416A>C c.449A>C (p.Glu150Ala) | |
| X | g.19351303A>G | CA412390934 | PDHA1 | c.335A>G (p.Glu112Gly) c.314A>G (p.Glu105Gly) c.398A>G (p.Glu133Gly) c.428A>G (p.Glu143Gly) n.416A>G c.449A>G (p.Glu150Gly) | |
| X | g.19351303A>T | CA412390935 | PDHA1 | c.335A>T (p.Glu112Val) c.314A>T (p.Glu105Val) c.398A>T (p.Glu133Val) c.428A>T (p.Glu143Val) n.416A>T c.449A>T (p.Glu150Val) | |
| X | g.19351304G>A | CA515485517 | PDHA1 | c.336G>A (p.Glu112=) c.315G>A (p.Glu105=) c.399G>A (p.Glu133=) c.429G>A (p.Glu143=) n.417G>A c.450G>A (p.Glu150=) | |
| X | g.19351304G>C | CA412390938 | PDHA1 | c.336G>C (p.Glu112Asp) c.315G>C (p.Glu105Asp) c.399G>C (p.Glu133Asp) c.429G>C (p.Glu143Asp) n.417G>C c.450G>C (p.Glu150Asp) | |
| X | g.19351304G>T | CA412390940 | PDHA1 | c.336G>T (p.Glu112Asp) c.315G>T (p.Glu105Asp) c.399G>T (p.Glu133Asp) c.429G>T (p.Glu143Asp) n.417G>T c.450G>T (p.Glu150Asp) | |
| X | g.19351305G>A | CA412390942 | PDHA1 | c.337G>A (p.Ala113Thr) c.316G>A (p.Ala106Thr) c.400G>A (p.Ala134Thr) c.430G>A (p.Ala144Thr) n.418G>A c.451G>A (p.Ala151Thr) | gnomAD v4 |
| X | g.19351305G>C | CA412390945 | PDHA1 | c.337G>C (p.Ala113Pro) c.316G>C (p.Ala106Pro) c.400G>C (p.Ala134Pro) c.430G>C (p.Ala144Pro) n.418G>C c.451G>C (p.Ala151Pro) | |
| X | g.19351305G>T | CA412390944 | PDHA1 | c.337G>T (p.Ala113Ser) c.316G>T (p.Ala106Ser) c.400G>T (p.Ala134Ser) c.430G>T (p.Ala144Ser) n.418G>T c.451G>T (p.Ala151Ser) | |
| X | g.19351306C>A | CA412390948 | PDHA1 | c.338C>A (p.Ala113Asp) c.317C>A (p.Ala106Asp) c.401C>A (p.Ala134Asp) c.431C>A (p.Ala144Asp) n.419C>A c.452C>A (p.Ala151Asp) | |
| X | g.19351306C>G | CA412390950 | PDHA1 | c.338C>G (p.Ala113Gly) c.317C>G (p.Ala106Gly) c.401C>G (p.Ala134Gly) c.431C>G (p.Ala144Gly) n.419C>G c.452C>G (p.Ala151Gly) | |
| X | g.19351306C>T | CA412390951 | PDHA1 | c.338C>T (p.Ala113Val) c.317C>T (p.Ala106Val) c.401C>T (p.Ala134Val) c.431C>T (p.Ala144Val) n.419C>T c.452C>T (p.Ala151Val) | gnomAD v4 |
| X | g.19351307C>A | CA515485518 | PDHA1 | c.339C>A (p.Ala113=) c.318C>A (p.Ala106=) c.402C>A (p.Ala134=) c.432C>A (p.Ala144=) n.420C>A c.453C>A (p.Ala151=) | |
| X | g.19351307C= | CA2418222102 | PDHA1 | c.339C= (p.Ala113=) c.318C= (p.Ala106=) c.402C= (p.Ala134=) c.432C= (p.Ala144=) n.420C= c.453C= (p.Ala151=) | |
| X | g.19351307C>G | CA515485519 | PDHA1 | c.339C>G (p.Ala113=) c.318C>G (p.Ala106=) c.402C>G (p.Ala134=) c.432C>G (p.Ala144=) n.420C>G c.453C>G (p.Ala151=) | gnomAD v4 |
| X | g.19351307C>T | CA327024456 | PDHA1 | c.339C>T (p.Ala113=) c.318C>T (p.Ala106=) c.402C>T (p.Ala134=) c.432C>T (p.Ala144=) n.420C>T c.453C>T (p.Ala151=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351308G>A | CA10363023 | PDHA1 | c.340G>A (p.Gly114Ser) c.319G>A (p.Gly107Ser) c.403G>A (p.Gly135Ser) c.433G>A (p.Gly145Ser) n.421G>A c.454G>A (p.Gly152Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351308G>C | CA412390957 | PDHA1 | c.340G>C (p.Gly114Arg) c.319G>C (p.Gly107Arg) c.403G>C (p.Gly135Arg) c.433G>C (p.Gly145Arg) n.421G>C c.454G>C (p.Gly152Arg) | |
| X | g.19351308G= | CA2418222103 | PDHA1 | c.340G= (p.Gly114=) c.319G= (p.Gly107=) c.403G= (p.Gly135=) c.433G= (p.Gly145=) n.421G= c.454G= (p.Gly152=) | |
| X | g.19351308G>T | CA412390959 | PDHA1 | c.340G>T (p.Gly114Cys) c.319G>T (p.Gly107Cys) c.403G>T (p.Gly135Cys) c.433G>T (p.Gly145Cys) n.421G>T c.454G>T (p.Gly152Cys) | |
| X | g.19351309G>A | CA327024475 | PDHA1 | c.341G>A (p.Gly114Asp) c.320G>A (p.Gly107Asp) c.404G>A (p.Gly135Asp) c.434G>A (p.Gly145Asp) n.422G>A c.455G>A (p.Gly152Asp) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19351309G>C | CA412390962 | PDHA1 | c.341G>C (p.Gly114Ala) c.320G>C (p.Gly107Ala) c.404G>C (p.Gly135Ala) c.434G>C (p.Gly145Ala) n.422G>C c.455G>C (p.Gly152Ala) | |
| X | g.19351309G= | CA2418222104 | PDHA1 | c.341G= (p.Gly114=) c.320G= (p.Gly107=) c.404G= (p.Gly135=) c.434G= (p.Gly145=) n.422G= c.455G= (p.Gly152=) | |
| X | g.19351309G>T | CA412390964 | PDHA1 | c.341G>T (p.Gly114Val) c.320G>T (p.Gly107Val) c.404G>T (p.Gly135Val) c.434G>T (p.Gly145Val) n.422G>T c.455G>T (p.Gly152Val) | |
| X | g.19351310C>A | CA515485520 | PDHA1 | c.342C>A (p.Gly114=) c.321C>A (p.Gly107=) c.405C>A (p.Gly135=) c.435C>A (p.Gly145=) n.423C>A c.456C>A (p.Gly152=) | |
| X | g.19351310C>G | CA515485521 | PDHA1 | c.342C>G (p.Gly114=) c.321C>G (p.Gly107=) c.405C>G (p.Gly135=) c.435C>G (p.Gly145=) n.423C>G c.456C>G (p.Gly152=) | |
| X | g.19351310C>T | CA515485522 | PDHA1 | c.342C>T (p.Gly114=) c.321C>T (p.Gly107=) c.405C>T (p.Gly135=) c.435C>T (p.Gly145=) n.423C>T c.456C>T (p.Gly152=) | ClinVar |
| X | g.19351311A>C | CA412390969 | PDHA1 | c.343A>C (p.Ile115Leu) c.322A>C (p.Ile108Leu) c.406A>C (p.Ile136Leu) c.436A>C (p.Ile146Leu) n.424A>C c.457A>C (p.Ile153Leu) | |
| X | g.19351311A>G | CA412390968 | PDHA1 | c.343A>G (p.Ile115Val) c.322A>G (p.Ile108Val) c.406A>G (p.Ile136Val) c.436A>G (p.Ile146Val) n.424A>G c.457A>G (p.Ile153Val) | |
| X | g.19351311A>T | CA412390966 | PDHA1 | c.343A>T (p.Ile115Phe) c.322A>T (p.Ile108Phe) c.406A>T (p.Ile136Phe) c.436A>T (p.Ile146Phe) n.424A>T c.457A>T (p.Ile153Phe) | |
| X | g.19351312T>A | CA412390972 | PDHA1 | c.344T>A (p.Ile115Asn) c.323T>A (p.Ile108Asn) c.407T>A (p.Ile136Asn) c.437T>A (p.Ile146Asn) n.425T>A c.458T>A (p.Ile153Asn) | |
| X | g.19351312T>C | CA412390970 | PDHA1 | c.344T>C (p.Ile115Thr) c.323T>C (p.Ile108Thr) c.407T>C (p.Ile136Thr) c.437T>C (p.Ile146Thr) n.425T>C c.458T>C (p.Ile153Thr) | |
| X | g.19351312T>G | CA412390971 | PDHA1 | c.344T>G (p.Ile115Ser) c.323T>G (p.Ile108Ser) c.407T>G (p.Ile136Ser) c.437T>G (p.Ile146Ser) n.425T>G c.458T>G (p.Ile153Ser) | |
| X | g.19351313C>A | CA515485523 | PDHA1 | c.345C>A (p.Ile115=) c.324C>A (p.Ile108=) c.408C>A (p.Ile136=) c.438C>A (p.Ile146=) n.426C>A c.459C>A (p.Ile153=) | |
| X | g.19351313C= | CA2418222105 | PDHA1 | c.345C= (p.Ile115=) c.324C= (p.Ile108=) c.408C= (p.Ile136=) c.438C= (p.Ile146=) n.426C= c.459C= (p.Ile153=) | |
| X | g.19351313C>G | CA412390973 | PDHA1 | c.345C>G (p.Ile115Met) c.324C>G (p.Ile108Met) c.408C>G (p.Ile136Met) c.438C>G (p.Ile146Met) n.426C>G c.459C>G (p.Ile153Met) | |
| X | g.19351313C>T | CA327024477 | PDHA1 | c.345C>T (p.Ile115=) c.324C>T (p.Ile108=) c.408C>T (p.Ile136=) c.438C>T (p.Ile146=) n.426C>T c.459C>T (p.Ile153=) | dbSNP gnomAD v4 |
| X | g.19351314A>C | CA412390974 | PDHA1 | c.346A>C (p.Asn116His) c.325A>C (p.Asn109His) c.409A>C (p.Asn137His) c.439A>C (p.Asn147His) n.427A>C c.460A>C (p.Asn154His) | |
| X | g.19351314A>G | CA412390975 | PDHA1 | c.346A>G (p.Asn116Asp) c.325A>G (p.Asn109Asp) c.409A>G (p.Asn137Asp) c.439A>G (p.Asn147Asp) n.427A>G c.460A>G (p.Asn154Asp) | |
| X | g.19351314A>T | CA412390976 | PDHA1 | c.346A>T (p.Asn116Tyr) c.325A>T (p.Asn109Tyr) c.409A>T (p.Asn137Tyr) c.439A>T (p.Asn147Tyr) n.427A>T c.460A>T (p.Asn154Tyr) | |
| X | g.19351315A>C | CA412390977 | PDHA1 | c.347A>C (p.Asn116Thr) c.326A>C (p.Asn109Thr) c.410A>C (p.Asn137Thr) c.440A>C (p.Asn147Thr) n.428A>C c.461A>C (p.Asn154Thr) | |
| X | g.19351315A>G | CA412390978 | PDHA1 | c.347A>G (p.Asn116Ser) c.326A>G (p.Asn109Ser) c.410A>G (p.Asn137Ser) c.440A>G (p.Asn147Ser) n.428A>G c.461A>G (p.Asn154Ser) | |
| X | g.19351315A>T | CA412390979 | PDHA1 | c.347A>T (p.Asn116Ile) c.326A>T (p.Asn109Ile) c.410A>T (p.Asn137Ile) c.440A>T (p.Asn147Ile) n.428A>T c.461A>T (p.Asn154Ile) | |
| X | g.19351316C>A | CA412390980 | PDHA1 | c.348C>A (p.Asn116Lys) c.327C>A (p.Asn109Lys) c.411C>A (p.Asn137Lys) c.441C>A (p.Asn147Lys) n.429C>A c.462C>A (p.Asn154Lys) | |
| X | g.19351316C= | CA2418222106 | PDHA1 | c.348C= (p.Asn116=) c.327C= (p.Asn109=) c.411C= (p.Asn137=) c.441C= (p.Asn147=) n.429C= c.462C= (p.Asn154=) | |
| X | g.19351316C>G | CA412390981 | PDHA1 | c.348C>G (p.Asn116Lys) c.327C>G (p.Asn109Lys) c.411C>G (p.Asn137Lys) c.441C>G (p.Asn147Lys) n.429C>G c.462C>G (p.Asn154Lys) | |
| X | g.19351316C>T | CA10363024 | PDHA1 | c.348C>T (p.Asn116=) c.327C>T (p.Asn109=) c.411C>T (p.Asn137=) c.441C>T (p.Asn147=) n.429C>T c.462C>T (p.Asn154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351316_19351317insAGA | CA658794193 | PDHA1 | c.348_349insAGA (p.Asn116_Pro117insArg) c.327_328insAGA (p.Asn109_Pro110insArg) c.411_412insAGA (p.Asn137_Pro138insArg) c.441_442insAGA (p.Asn147_Pro148insArg) n.429_430insAGA c.462_463insAGA (p.Asn154_Pro155insArg) | |
| X | g.19351317C>A | CA412390984 | PDHA1 | c.349C>A (p.Pro117Thr) c.328C>A (p.Pro110Thr) c.412C>A (p.Pro138Thr) c.442C>A (p.Pro148Thr) n.430C>A c.463C>A (p.Pro155Thr) | |
| X | g.19351317C>G | CA412390982 | PDHA1 | c.349C>G (p.Pro117Ala) c.328C>G (p.Pro110Ala) c.412C>G (p.Pro138Ala) c.442C>G (p.Pro148Ala) n.430C>G c.463C>G (p.Pro155Ala) | ClinVar gnomAD v4 |
| X | g.19351317C>T | CA412390983 | PDHA1 | c.349C>T (p.Pro117Ser) c.328C>T (p.Pro110Ser) c.412C>T (p.Pro138Ser) c.442C>T (p.Pro148Ser) n.430C>T c.463C>T (p.Pro155Ser) | gnomAD v4 |
| X | g.19351317delinsAGA | CA2695223229 | PDHA1 | c.349delinsAGA (p.Pro117ArgfsTer?) c.328delinsAGA (p.Pro110ArgfsTer?) c.412delinsAGA (p.Pro138ArgfsTer?) c.442delinsAGA (p.Pro148ArgfsTer?) n.430delinsAGA c.463delinsAGA (p.Pro155ArgfsTer?) | |
| X | g.19351318C>A | CA412390985 | PDHA1 | c.350C>A (p.Pro117His) c.329C>A (p.Pro110His) c.413C>A (p.Pro138His) c.443C>A (p.Pro148His) n.431C>A c.464C>A (p.Pro155His) | |
| X | g.19351318C>G | CA412390986 | PDHA1 | c.350C>G (p.Pro117Arg) c.329C>G (p.Pro110Arg) c.413C>G (p.Pro138Arg) c.443C>G (p.Pro148Arg) n.431C>G c.464C>G (p.Pro155Arg) | |
| X | g.19351318C>T | CA412390987 | PDHA1 | c.350C>T (p.Pro117Leu) c.329C>T (p.Pro110Leu) c.413C>T (p.Pro138Leu) c.443C>T (p.Pro148Leu) n.431C>T c.464C>T (p.Pro155Leu) | |
| X | g.19351319C>A | CA515485524 | PDHA1 | c.351C>A (p.Pro117=) c.330C>A (p.Pro110=) c.414C>A (p.Pro138=) c.444C>A (p.Pro148=) n.432C>A c.465C>A (p.Pro155=) | |
| X | g.19351319C>G | CA515485525 | PDHA1 | c.351C>G (p.Pro117=) c.330C>G (p.Pro110=) c.414C>G (p.Pro138=) c.444C>G (p.Pro148=) n.432C>G c.465C>G (p.Pro155=) | |
| X | g.19351319C>T | CA515485526 | PDHA1 | c.351C>T (p.Pro117=) c.330C>T (p.Pro110=) c.414C>T (p.Pro138=) c.444C>T (p.Pro148=) n.432C>T c.465C>T (p.Pro155=) | ClinVar dbSNP |
| X | g.19351324_19351338del | CA2580100428 | PDHA1 | c.356_370del (p.Asp119_Thr123del) c.335_349del (p.Asp112_Thr116del) c.419_433del (p.Asp140_Thr144del) c.449_463del (p.Asp150_Thr154del) n.437_451del c.470_484del (p.Asp157_Thr161del) | ClinVar |
| X | g.19351320A>C | CA412390988 | PDHA1 | c.352A>C (p.Thr118Pro) c.331A>C (p.Thr111Pro) c.415A>C (p.Thr139Pro) c.445A>C (p.Thr149Pro) n.433A>C c.466A>C (p.Thr156Pro) | |
| X | g.19351320A>G | CA412390990 | PDHA1 | c.352A>G (p.Thr118Ala) c.331A>G (p.Thr111Ala) c.415A>G (p.Thr139Ala) c.445A>G (p.Thr149Ala) n.433A>G c.466A>G (p.Thr156Ala) | |
| X | g.19351320A>T | CA412390993 | PDHA1 | c.352A>T (p.Thr118Ser) c.331A>T (p.Thr111Ser) c.415A>T (p.Thr139Ser) c.445A>T (p.Thr149Ser) n.433A>T c.466A>T (p.Thr156Ser) | |
| X | g.19351321C>A | CA412390995 | PDHA1 | c.353C>A (p.Thr118Lys) c.332C>A (p.Thr111Lys) c.416C>A (p.Thr139Lys) c.446C>A (p.Thr149Lys) n.434C>A c.467C>A (p.Thr156Lys) | |
| X | g.19351321C>G | CA412390997 | PDHA1 | c.353C>G (p.Thr118Arg) c.332C>G (p.Thr111Arg) c.416C>G (p.Thr139Arg) c.446C>G (p.Thr149Arg) n.434C>G c.467C>G (p.Thr156Arg) | gnomAD v4 |
| X | g.19351321C>T | CA412390999 | PDHA1 | c.353C>T (p.Thr118Ile) c.332C>T (p.Thr111Ile) c.416C>T (p.Thr139Ile) c.446C>T (p.Thr149Ile) n.434C>T c.467C>T (p.Thr156Ile) | |
| X | g.19351322A= | CA2418222107 | PDHA1 | c.354A= (p.Thr118=) c.333A= (p.Thr111=) c.417A= (p.Thr139=) c.447A= (p.Thr149=) n.435A= c.468A= (p.Thr156=) | |
| X | g.19351322A>C | CA515485529 | PDHA1 | c.354A>C (p.Thr118=) c.333A>C (p.Thr111=) c.417A>C (p.Thr139=) c.447A>C (p.Thr149=) n.435A>C c.468A>C (p.Thr156=) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351322A>G | CA515485527 | PDHA1 | c.354A>G (p.Thr118=) c.333A>G (p.Thr111=) c.417A>G (p.Thr139=) c.447A>G (p.Thr149=) n.435A>G c.468A>G (p.Thr156=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351322A>T | CA515485528 | PDHA1 | c.354A>T (p.Thr118=) c.333A>T (p.Thr111=) c.417A>T (p.Thr139=) c.447A>T (p.Thr149=) n.435A>T c.468A>T (p.Thr156=) | |
| X | g.19351323G>A | CA412391001 | PDHA1 | c.355G>A (p.Asp119Asn) c.334G>A (p.Asp112Asn) c.418G>A (p.Asp140Asn) c.448G>A (p.Asp150Asn) n.436G>A c.469G>A (p.Asp157Asn) | |
| X | g.19351323G>C | CA412391003 | PDHA1 | c.355G>C (p.Asp119His) c.334G>C (p.Asp112His) c.418G>C (p.Asp140His) c.448G>C (p.Asp150His) n.436G>C c.469G>C (p.Asp157His) | |
| X | g.19351323G>T | CA412391005 | PDHA1 | c.355G>T (p.Asp119Tyr) c.334G>T (p.Asp112Tyr) c.418G>T (p.Asp140Tyr) c.448G>T (p.Asp150Tyr) n.436G>T c.469G>T (p.Asp157Tyr) | |
| X | g.19351324A>C | CA412391008 | PDHA1 | c.356A>C (p.Asp119Ala) c.335A>C (p.Asp112Ala) c.419A>C (p.Asp140Ala) c.449A>C (p.Asp150Ala) n.437A>C c.470A>C (p.Asp157Ala) | |
| X | g.19351324A>G | CA412391010 | PDHA1 | c.356A>G (p.Asp119Gly) c.335A>G (p.Asp112Gly) c.419A>G (p.Asp140Gly) c.449A>G (p.Asp150Gly) n.437A>G c.470A>G (p.Asp157Gly) | |
| X | g.19351324A>T | CA412391006 | PDHA1 | c.356A>T (p.Asp119Val) c.335A>T (p.Asp112Val) c.419A>T (p.Asp140Val) c.449A>T (p.Asp150Val) n.437A>T c.470A>T (p.Asp157Val) | |
| X | g.19351325C>A | CA412391012 | PDHA1 | c.357C>A (p.Asp119Glu) c.336C>A (p.Asp112Glu) c.420C>A (p.Asp140Glu) c.450C>A (p.Asp150Glu) n.438C>A c.471C>A (p.Asp157Glu) | |
| X | g.19351325C= | CA2418222108 | PDHA1 | c.357C= (p.Asp119=) c.336C= (p.Asp112=) c.420C= (p.Asp140=) c.450C= (p.Asp150=) n.438C= c.471C= (p.Asp157=) | |
| X | g.19351325C>G | CA412391013 | PDHA1 | c.357C>G (p.Asp119Glu) c.336C>G (p.Asp112Glu) c.420C>G (p.Asp140Glu) c.450C>G (p.Asp150Glu) n.438C>G c.471C>G (p.Asp157Glu) | |
| X | g.19351325C>T | CA515485530 | PDHA1 | c.357C>T (p.Asp119=) c.336C>T (p.Asp112=) c.420C>T (p.Asp140=) c.450C>T (p.Asp150=) n.438C>T c.471C>T (p.Asp157=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.19351326C>A | CA412391016 | PDHA1 | c.358C>A (p.His120Asn) c.337C>A (p.His113Asn) c.421C>A (p.His141Asn) c.451C>A (p.His151Asn) n.439C>A c.472C>A (p.His158Asn) | |
| X | g.19351326C= | CA2418222109 | PDHA1 | c.358C= (p.His120=) c.337C= (p.His113=) c.421C= (p.His141=) c.451C= (p.His151=) n.439C= c.472C= (p.His158=) | |
| X | g.19351326C>G | CA412391018 | PDHA1 | c.358C>G (p.His120Asp) c.337C>G (p.His113Asp) c.421C>G (p.His141Asp) c.451C>G (p.His151Asp) n.439C>G c.472C>G (p.His158Asp) | |
| X | g.19351326C>T | CA327024480 | PDHA1 | c.358C>T (p.His120Tyr) c.337C>T (p.His113Tyr) c.421C>T (p.His141Tyr) c.451C>T (p.His151Tyr) n.439C>T c.472C>T (p.His158Tyr) | dbSNP |
| X | g.19351330_19351334del | CA2579566223 | PDHA1 | c.362_366del (p.Leu121HisfsTer?) c.341_345del (p.Leu114HisfsTer?) c.425_429del (p.Leu142HisfsTer?) c.455_459del (p.Leu152HisfsTer?) n.443_447del c.476_480del (p.Leu159HisfsTer?) | |
| X | g.19351327A= | CA2418222110 | PDHA1 | c.359A= (p.His120=) c.338A= (p.His113=) c.422A= (p.His141=) c.452A= (p.His151=) n.440A= c.473A= (p.His158=) | |
| X | g.19351327A>C | CA412391022 | PDHA1 | c.359A>C (p.His120Pro) c.338A>C (p.His113Pro) c.422A>C (p.His141Pro) c.452A>C (p.His151Pro) n.440A>C c.473A>C (p.His158Pro) | |
| X | g.19351327A>G | CA10363025 | PDHA1 | c.359A>G (p.His120Arg) c.338A>G (p.His113Arg) c.422A>G (p.His141Arg) c.452A>G (p.His151Arg) n.440A>G c.473A>G (p.His158Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19351327A>T | CA412391025 | PDHA1 | c.359A>T (p.His120Leu) c.338A>T (p.His113Leu) c.422A>T (p.His141Leu) c.452A>T (p.His151Leu) n.440A>T c.473A>T (p.His158Leu) | |
| X | g.19351328T>A | CA412391027 | PDHA1 | c.360T>A (p.His120Gln) c.339T>A (p.His113Gln) c.423T>A (p.His141Gln) c.453T>A (p.His151Gln) n.441T>A c.474T>A (p.His158Gln) | |
| X | g.19351328T>C | CA515485531 | PDHA1 | c.360T>C (p.His120=) c.339T>C (p.His113=) c.423T>C (p.His141=) c.453T>C (p.His151=) n.441T>C c.474T>C (p.His158=) | gnomAD v4 |
| X | g.19351328T>G | CA412391028 | PDHA1 | c.360T>G (p.His120Gln) c.339T>G (p.His113Gln) c.423T>G (p.His141Gln) c.453T>G (p.His151Gln) n.441T>G c.474T>G (p.His158Gln) | |
| X | g.19351329C>A | CA412391032 | PDHA1 | c.361C>A (p.Leu121Ile) c.340C>A (p.Leu114Ile) c.424C>A (p.Leu142Ile) c.454C>A (p.Leu152Ile) n.442C>A c.475C>A (p.Leu159Ile) | |
| X | g.19351329C>G | CA412391033 | PDHA1 | c.361C>G (p.Leu121Val) c.340C>G (p.Leu114Val) c.424C>G (p.Leu142Val) c.454C>G (p.Leu152Val) n.442C>G c.475C>G (p.Leu159Val) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351329C>T | CA412391034 | PDHA1 | c.361C>T (p.Leu121Phe) c.340C>T (p.Leu114Phe) c.424C>T (p.Leu142Phe) c.454C>T (p.Leu152Phe) n.442C>T c.475C>T (p.Leu159Phe) | |
| X | g.19351330T>A | CA412391040 | PDHA1 | c.362T>A (p.Leu121His) c.341T>A (p.Leu114His) c.425T>A (p.Leu142His) c.455T>A (p.Leu152His) n.443T>A c.476T>A (p.Leu159His) | |
| X | g.19351330T>C | CA412391039 | PDHA1 | c.362T>C (p.Leu121Pro) c.341T>C (p.Leu114Pro) c.425T>C (p.Leu142Pro) c.455T>C (p.Leu152Pro) n.443T>C c.476T>C (p.Leu159Pro) | |
| X | g.19351330T>G | CA412391037 | PDHA1 | c.362T>G (p.Leu121Arg) c.341T>G (p.Leu114Arg) c.425T>G (p.Leu142Arg) c.455T>G (p.Leu152Arg) n.443T>G c.476T>G (p.Leu159Arg) | |
| X | g.19351331C>A | CA515485532 | PDHA1 | c.363C>A (p.Leu121=) c.342C>A (p.Leu114=) c.426C>A (p.Leu142=) c.456C>A (p.Leu152=) n.444C>A c.477C>A (p.Leu159=) | |
| X | g.19351331C>G | CA515485533 | PDHA1 | c.363C>G (p.Leu121=) c.342C>G (p.Leu114=) c.426C>G (p.Leu142=) c.456C>G (p.Leu152=) n.444C>G c.477C>G (p.Leu159=) | |
| X | g.19351331C>T | CA515485534 | PDHA1 | c.363C>T (p.Leu121=) c.342C>T (p.Leu114=) c.426C>T (p.Leu142=) c.456C>T (p.Leu152=) n.444C>T c.477C>T (p.Leu159=) | gnomAD v4 |
| X | g.19351332A>C | CA412391043 | PDHA1 | c.364A>C (p.Ile122Leu) c.343A>C (p.Ile115Leu) c.427A>C (p.Ile143Leu) c.457A>C (p.Ile153Leu) n.445A>C c.478A>C (p.Ile160Leu) | gnomAD v4 |
| X | g.19351332A>G | CA412391045 | PDHA1 | c.364A>G (p.Ile122Val) c.343A>G (p.Ile115Val) c.427A>G (p.Ile143Val) c.457A>G (p.Ile153Val) n.445A>G c.478A>G (p.Ile160Val) | |
| X | g.19351332A>T | CA412391047 | PDHA1 | c.364A>T (p.Ile122Phe) c.343A>T (p.Ile115Phe) c.427A>T (p.Ile143Phe) c.457A>T (p.Ile153Phe) n.445A>T c.478A>T (p.Ile160Phe) | |
| X | g.19351333T>A | CA412391049 | PDHA1 | c.365T>A (p.Ile122Asn) c.344T>A (p.Ile115Asn) c.428T>A (p.Ile143Asn) c.458T>A (p.Ile153Asn) n.446T>A c.479T>A (p.Ile160Asn) | |
| X | g.19351333T>C | CA412391051 | PDHA1 | c.365T>C (p.Ile122Thr) c.344T>C (p.Ile115Thr) c.428T>C (p.Ile143Thr) c.458T>C (p.Ile153Thr) n.446T>C c.479T>C (p.Ile160Thr) | |
| X | g.19351333T>G | CA412391052 | PDHA1 | c.365T>G (p.Ile122Ser) c.344T>G (p.Ile115Ser) c.428T>G (p.Ile143Ser) c.458T>G (p.Ile153Ser) n.446T>G c.479T>G (p.Ile160Ser) | |
| X | g.19351334C>A | CA515485535 | PDHA1 | c.366C>A (p.Ile122=) c.345C>A (p.Ile115=) c.429C>A (p.Ile143=) c.459C>A (p.Ile153=) n.447C>A c.480C>A (p.Ile160=) | gnomAD v4 |
| X | g.19351334C= | CA2418222111 | PDHA1 | c.366C= (p.Ile122=) c.345C= (p.Ile115=) c.429C= (p.Ile143=) c.459C= (p.Ile153=) n.447C= c.480C= (p.Ile160=) | |
| X | g.19351334C>G | CA412391054 | PDHA1 | c.366C>G (p.Ile122Met) c.345C>G (p.Ile115Met) c.429C>G (p.Ile143Met) c.459C>G (p.Ile153Met) n.447C>G c.480C>G (p.Ile160Met) | |
| X | g.19351334C>T | CA327024490 | PDHA1 | c.366C>T (p.Ile122=) c.345C>T (p.Ile115=) c.429C>T (p.Ile143=) c.459C>T (p.Ile153=) n.447C>T c.480C>T (p.Ile160=) | ClinVar dbSNP |
| X | g.19351336_19351337del | CA2579566224 | PDHA1 | c.368_369del (p.Thr123SerfsTer?) c.347_348del (p.Thr116SerfsTer?) c.431_432del (p.Thr144SerfsTer?) c.461_462del (p.Thr154SerfsTer?) n.449_450del c.482_483del (p.Thr161SerfsTer?) | |
| X | g.19351335A>C | CA412391056 | PDHA1 | c.367A>C (p.Thr123Pro) c.346A>C (p.Thr116Pro) c.430A>C (p.Thr144Pro) c.460A>C (p.Thr154Pro) n.448A>C c.481A>C (p.Thr161Pro) | |
| X | g.19351335A>G | CA412391058 | PDHA1 | c.367A>G (p.Thr123Ala) c.346A>G (p.Thr116Ala) c.430A>G (p.Thr144Ala) c.460A>G (p.Thr154Ala) n.448A>G c.481A>G (p.Thr161Ala) | |
| X | g.19351335A>T | CA412391060 | PDHA1 | c.367A>T (p.Thr123Ser) c.346A>T (p.Thr116Ser) c.430A>T (p.Thr144Ser) c.460A>T (p.Thr154Ser) n.448A>T c.481A>T (p.Thr161Ser) | |
| X | g.19351336C>A | CA412391063 | PDHA1 | c.368C>A (p.Thr123Lys) c.347C>A (p.Thr116Lys) c.431C>A (p.Thr144Lys) c.461C>A (p.Thr154Lys) n.449C>A c.482C>A (p.Thr161Lys) | gnomAD v4 |
| X | g.19351336C>G | CA412391065 | PDHA1 | c.368C>G (p.Thr123Arg) c.347C>G (p.Thr116Arg) c.431C>G (p.Thr144Arg) c.461C>G (p.Thr154Arg) n.449C>G c.482C>G (p.Thr161Arg) | |
| X | g.19351336C>T | CA412391066 | PDHA1 | c.368C>T (p.Thr123Ile) c.347C>T (p.Thr116Ile) c.431C>T (p.Thr144Ile) c.461C>T (p.Thr154Ile) n.449C>T c.482C>T (p.Thr161Ile) | |
| X | g.19351337A= | CA2418222112 | PDHA1 | c.369A= (p.Thr123=) c.348A= (p.Thr116=) c.432A= (p.Thr144=) c.462A= (p.Thr154=) n.450A= c.483A= (p.Thr161=) | |
| X | g.19351337A>C | CA515485536 | PDHA1 | c.369A>C (p.Thr123=) c.348A>C (p.Thr116=) c.432A>C (p.Thr144=) c.462A>C (p.Thr154=) n.450A>C c.483A>C (p.Thr161=) | |
| X | g.19351337A>G | CA515485537 | PDHA1 | c.369A>G (p.Thr123=) c.348A>G (p.Thr116=) c.432A>G (p.Thr144=) c.462A>G (p.Thr154=) n.450A>G c.483A>G (p.Thr161=) | |
| X | g.19351337A>T | CA327024494 | PDHA1 | c.369A>T (p.Thr123=) c.348A>T (p.Thr116=) c.432A>T (p.Thr144=) c.462A>T (p.Thr154=) n.450A>T c.483A>T (p.Thr161=) | dbSNP |
| X | g.19351338G>A | CA412391071 | PDHA1 | c.370G>A (p.Ala124Thr) c.349G>A (p.Ala117Thr) c.433G>A (p.Ala145Thr) c.463G>A (p.Ala155Thr) n.451G>A c.484G>A (p.Ala162Thr) | gnomAD v4 |
| X | g.19351338G>C | CA412391073 | PDHA1 | c.370G>C (p.Ala124Pro) c.349G>C (p.Ala117Pro) c.433G>C (p.Ala145Pro) c.463G>C (p.Ala155Pro) n.451G>C c.484G>C (p.Ala162Pro) | |
| X | g.19351338G>T | CA412391069 | PDHA1 | c.370G>T (p.Ala124Ser) c.349G>T (p.Ala117Ser) c.433G>T (p.Ala145Ser) c.463G>T (p.Ala155Ser) n.451G>T c.484G>T (p.Ala162Ser) | |
| X | g.19351339C>A | CA412391075 | PDHA1 | c.371C>A (p.Ala124Asp) c.350C>A (p.Ala117Asp) c.434C>A (p.Ala145Asp) c.464C>A (p.Ala155Asp) n.452C>A c.485C>A (p.Ala162Asp) | |
| X | g.19351339C>G | CA412391077 | PDHA1 | c.371C>G (p.Ala124Gly) c.350C>G (p.Ala117Gly) c.434C>G (p.Ala145Gly) c.464C>G (p.Ala155Gly) n.452C>G c.485C>G (p.Ala162Gly) | |
| X | g.19351339C>T | CA412391079 | PDHA1 | c.371C>T (p.Ala124Val) c.350C>T (p.Ala117Val) c.434C>T (p.Ala145Val) c.464C>T (p.Ala155Val) n.452C>T c.485C>T (p.Ala162Val) | |
| X | g.19351340C>A | CA515485538 | PDHA1 | c.372C>A (p.Ala124=) c.351C>A (p.Ala117=) c.435C>A (p.Ala145=) c.465C>A (p.Ala155=) n.453C>A c.486C>A (p.Ala162=) | |
| X | g.19351340C>G | CA515485539 | PDHA1 | c.372C>G (p.Ala124=) c.351C>G (p.Ala117=) c.435C>G (p.Ala145=) c.465C>G (p.Ala155=) n.453C>G c.486C>G (p.Ala162=) | |
| X | g.19351340C>T | CA515485540 | PDHA1 | c.372C>T (p.Ala124=) c.351C>T (p.Ala117=) c.435C>T (p.Ala145=) c.465C>T (p.Ala155=) n.453C>T c.486C>T (p.Ala162=) | |
| X | g.19351341T>A | CA412391081 | PDHA1 | c.373T>A (p.Tyr125Asn) c.352T>A (p.Tyr118Asn) c.436T>A (p.Tyr146Asn) c.466T>A (p.Tyr156Asn) n.454T>A c.487T>A (p.Tyr163Asn) | |
| X | g.19351341T>C | CA412391083 | PDHA1 | c.373T>C (p.Tyr125His) c.352T>C (p.Tyr118His) c.436T>C (p.Tyr146His) c.466T>C (p.Tyr156His) n.454T>C c.487T>C (p.Tyr163His) | |
| X | g.19351341T>G | CA412391085 | PDHA1 | c.373T>G (p.Tyr125Asp) c.352T>G (p.Tyr118Asp) c.436T>G (p.Tyr146Asp) c.466T>G (p.Tyr156Asp) n.454T>G c.487T>G (p.Tyr163Asp) | |
| X | g.19351342A>C | CA412391086 | PDHA1 | c.374A>C (p.Tyr125Ser) c.353A>C (p.Tyr118Ser) c.437A>C (p.Tyr146Ser) c.467A>C (p.Tyr156Ser) n.455A>C c.488A>C (p.Tyr163Ser) | |
| X | g.19351342A>G | CA412391088 | PDHA1 | c.374A>G (p.Tyr125Cys) c.353A>G (p.Tyr118Cys) c.437A>G (p.Tyr146Cys) c.467A>G (p.Tyr156Cys) n.455A>G c.488A>G (p.Tyr163Cys) | |
| X | g.19351342A>T | CA412391089 | PDHA1 | c.374A>T (p.Tyr125Phe) c.353A>T (p.Tyr118Phe) c.437A>T (p.Tyr146Phe) c.467A>T (p.Tyr156Phe) n.455A>T c.488A>T (p.Tyr163Phe) | |
| X | g.19351343C>A | CA412391091 | PDHA1 | c.375C>A (p.Tyr125Ter) c.354C>A (p.Tyr118Ter) c.438C>A (p.Tyr146Ter) c.468C>A (p.Tyr156Ter) n.456C>A c.489C>A (p.Tyr163Ter) | gnomAD v4 |
| X | g.19351343C>G | CA412391093 | PDHA1 | c.375C>G (p.Tyr125Ter) c.354C>G (p.Tyr118Ter) c.438C>G (p.Tyr146Ter) c.468C>G (p.Tyr156Ter) n.456C>G c.489C>G (p.Tyr163Ter) | |
| X | g.19351343C>T | CA515485541 | PDHA1 | c.375C>T (p.Tyr125=) c.354C>T (p.Tyr118=) c.438C>T (p.Tyr146=) c.468C>T (p.Tyr156=) n.456C>T c.489C>T (p.Tyr163=) | ClinVar |
| X | g.19351344C>A | CA515485542 | PDHA1 | c.376C>A (p.Arg126=) c.355C>A (p.Arg119=) c.439C>A (p.Arg147=) c.469C>A (p.Arg157=) n.457C>A c.490C>A (p.Arg164=) | |
| X | g.19351344C>G | CA412391095 | PDHA1 | c.376C>G (p.Arg126Gly) c.355C>G (p.Arg119Gly) c.439C>G (p.Arg147Gly) c.469C>G (p.Arg157Gly) n.457C>G c.490C>G (p.Arg164Gly) | |
| X | g.19351344C>T | CA412391097 | PDHA1 | c.376C>T (p.Arg126Trp) c.355C>T (p.Arg119Trp) c.439C>T (p.Arg147Trp) c.469C>T (p.Arg157Trp) n.457C>T c.490C>T (p.Arg164Trp) | ClinVar dbSNP COSMIC |
| X | g.19351345G>A | CA412391099 | PDHA1 | c.377G>A (p.Arg126Gln) c.356G>A (p.Arg119Gln) c.440G>A (p.Arg147Gln) c.470G>A (p.Arg157Gln) n.458G>A c.491G>A (p.Arg164Gln) | |
| X | g.19351345G>C | CA412391103 | PDHA1 | c.377G>C (p.Arg126Pro) c.356G>C (p.Arg119Pro) c.440G>C (p.Arg147Pro) c.470G>C (p.Arg157Pro) n.458G>C c.491G>C (p.Arg164Pro) | |
| X | g.19351345G>T | CA412391100 | PDHA1 | c.377G>T (p.Arg126Leu) c.356G>T (p.Arg119Leu) c.440G>T (p.Arg147Leu) c.470G>T (p.Arg157Leu) n.458G>T c.491G>T (p.Arg164Leu) | |
| X | g.19351346G>A | CA10363026 | PDHA1 | c.378G>A (p.Arg126=) c.357G>A (p.Arg119=) c.441G>A (p.Arg147=) c.471G>A (p.Arg157=) n.459G>A c.492G>A (p.Arg164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351346G>C | CA515485543 | PDHA1 | c.378G>C (p.Arg126=) c.357G>C (p.Arg119=) c.441G>C (p.Arg147=) c.471G>C (p.Arg157=) n.459G>C c.492G>C (p.Arg164=) | |
| X | g.19351346G= | CA2418222113 | PDHA1 | c.378G= (p.Arg126=) c.357G= (p.Arg119=) c.441G= (p.Arg147=) c.471G= (p.Arg157=) n.459G= c.492G= (p.Arg164=) | |
| X | g.19351346G>T | CA515485544 | PDHA1 | c.378G>T (p.Arg126=) c.357G>T (p.Arg119=) c.441G>T (p.Arg147=) c.471G>T (p.Arg157=) n.459G>T c.492G>T (p.Arg164=) | |
| X | g.19351347G>A | CA412391107 | PDHA1 | c.379G>A (p.Ala127Thr) c.358G>A (p.Ala120Thr) c.442G>A (p.Ala148Thr) c.472G>A (p.Ala158Thr) n.460G>A c.493G>A (p.Ala165Thr) | |
| X | g.19351347G>C | CA412391109 | PDHA1 | c.379G>C (p.Ala127Pro) c.358G>C (p.Ala120Pro) c.442G>C (p.Ala148Pro) c.472G>C (p.Ala158Pro) n.460G>C c.493G>C (p.Ala165Pro) | |
| X | g.19351347G>T | CA412391110 | PDHA1 | c.379G>T (p.Ala127Ser) c.358G>T (p.Ala120Ser) c.442G>T (p.Ala148Ser) c.472G>T (p.Ala158Ser) n.460G>T c.493G>T (p.Ala165Ser) | COSMIC |
| X | g.19351348C>A | CA412391113 | PDHA1 | c.380C>A (p.Ala127Asp) c.359C>A (p.Ala120Asp) c.443C>A (p.Ala148Asp) c.473C>A (p.Ala158Asp) n.461C>A c.494C>A (p.Ala165Asp) | |
| X | g.19351348C= | CA2418222114 | PDHA1 | c.380C= (p.Ala127=) c.359C= (p.Ala120=) c.443C= (p.Ala148=) c.473C= (p.Ala158=) n.461C= c.494C= (p.Ala165=) | |
| X | g.19351348C>G | CA412391115 | PDHA1 | c.380C>G (p.Ala127Gly) c.359C>G (p.Ala120Gly) c.443C>G (p.Ala148Gly) c.473C>G (p.Ala158Gly) n.461C>G c.494C>G (p.Ala165Gly) | |
| X | g.19351348C>T | CA412391117 | PDHA1 | c.380C>T (p.Ala127Val) c.359C>T (p.Ala120Val) c.443C>T (p.Ala148Val) c.473C>T (p.Ala158Val) n.461C>T c.494C>T (p.Ala165Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351349T>A | CA515485551 | PDHA1 | c.381T>A (p.Ala127=) c.360T>A (p.Ala120=) c.444T>A (p.Ala148=) c.474T>A (p.Ala158=) n.462T>A c.495T>A (p.Ala165=) | |
| X | g.19351349T>C | CA515485555 | PDHA1 | c.381T>C (p.Ala127=) c.360T>C (p.Ala120=) c.444T>C (p.Ala148=) c.474T>C (p.Ala158=) n.462T>C c.495T>C (p.Ala165=) | |
| X | g.19351349T>G | CA515485552 | PDHA1 | c.381T>G (p.Ala127=) c.360T>G (p.Ala120=) c.444T>G (p.Ala148=) c.474T>G (p.Ala158=) n.462T>G c.495T>G (p.Ala165=) | |
| X | g.19351350C>A | CA412391119 | PDHA1 | c.382C>A (p.His128Asn) c.361C>A (p.His121Asn) c.445C>A (p.His149Asn) c.475C>A (p.His159Asn) n.463C>A c.496C>A (p.His166Asn) | |
| X | g.19351350C>G | CA412391120 | PDHA1 | c.382C>G (p.His128Asp) c.361C>G (p.His121Asp) c.445C>G (p.His149Asp) c.475C>G (p.His159Asp) n.463C>G c.496C>G (p.His166Asp) | |
| X | g.19351350C>T | CA412391122 | PDHA1 | c.382C>T (p.His128Tyr) c.361C>T (p.His121Tyr) c.445C>T (p.His149Tyr) c.475C>T (p.His159Tyr) n.463C>T c.496C>T (p.His166Tyr) | |
| X | g.19351351A>C | CA412391126 | PDHA1 | c.383A>C (p.His128Pro) c.362A>C (p.His121Pro) c.446A>C (p.His149Pro) c.476A>C (p.His159Pro) n.464A>C c.497A>C (p.His166Pro) | |
| X | g.19351351A>G | CA412391128 | PDHA1 | c.383A>G (p.His128Arg) c.362A>G (p.His121Arg) c.446A>G (p.His149Arg) c.476A>G (p.His159Arg) n.464A>G c.497A>G (p.His166Arg) | |
| X | g.19351351A>T | CA412391125 | PDHA1 | c.383A>T (p.His128Leu) c.362A>T (p.His121Leu) c.446A>T (p.His149Leu) c.476A>T (p.His159Leu) n.464A>T c.497A>T (p.His166Leu) | |
| X | g.19351352C>A | CA412391132 | PDHA1 | c.384C>A (p.His128Gln) c.363C>A (p.His121Gln) c.447C>A (p.His149Gln) c.477C>A (p.His159Gln) n.465C>A c.498C>A (p.His166Gln) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351352C= | CA2418222115 | PDHA1 | c.384C= (p.His128=) c.363C= (p.His121=) c.447C= (p.His149=) c.477C= (p.His159=) n.465C= c.498C= (p.His166=) | |
| X | g.19351352C>G | CA412391131 | PDHA1 | c.384C>G (p.His128Gln) c.363C>G (p.His121Gln) c.447C>G (p.His149Gln) c.477C>G (p.His159Gln) n.465C>G c.498C>G (p.His166Gln) | |
| X | g.19351352C>T | CA10363027 | PDHA1 | c.384C>T (p.His128=) c.363C>T (p.His121=) c.447C>T (p.His149=) c.477C>T (p.His159=) n.465C>T c.498C>T (p.His166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351353G>A | CA412391135 | PDHA1 | c.385G>A (p.Gly129Ser) c.364G>A (p.Gly122Ser) c.448G>A (p.Gly150Ser) c.478G>A (p.Gly160Ser) n.466G>A c.499G>A (p.Gly167Ser) | ClinVar dbSNP |
| X | g.19351353G>C | CA412391137 | PDHA1 | c.385G>C (p.Gly129Arg) c.364G>C (p.Gly122Arg) c.448G>C (p.Gly150Arg) c.478G>C (p.Gly160Arg) n.466G>C c.499G>C (p.Gly167Arg) | |
| X | g.19351353G= | CA2418222116 | PDHA1 | c.385G= (p.Gly129=) c.364G= (p.Gly122=) c.448G= (p.Gly150=) c.478G= (p.Gly160=) n.466G= c.499G= (p.Gly167=) | |
| X | g.19351353G>T | CA412391139 | PDHA1 | c.385G>T (p.Gly129Cys) c.364G>T (p.Gly122Cys) c.448G>T (p.Gly150Cys) c.478G>T (p.Gly160Cys) n.466G>T c.499G>T (p.Gly167Cys) | |
| X | g.19351354G>A | CA412391142 | PDHA1 | c.386G>A (p.Gly129Asp) c.365G>A (p.Gly122Asp) c.449G>A (p.Gly150Asp) c.479G>A (p.Gly160Asp) n.467G>A c.500G>A (p.Gly167Asp) | |
| X | g.19351354G>C | CA412391144 | PDHA1 | c.386G>C (p.Gly129Ala) c.365G>C (p.Gly122Ala) c.449G>C (p.Gly150Ala) c.479G>C (p.Gly160Ala) n.467G>C c.500G>C (p.Gly167Ala) | |
| X | g.19351354G>T | CA412391146 | PDHA1 | c.386G>T (p.Gly129Val) c.365G>T (p.Gly122Val) c.449G>T (p.Gly150Val) c.479G>T (p.Gly160Val) n.467G>T c.500G>T (p.Gly167Val) | |
| X | g.19351355C>A | CA515485567 | PDHA1 | c.387C>A (p.Gly129=) c.366C>A (p.Gly122=) c.450C>A (p.Gly150=) c.480C>A (p.Gly160=) n.468C>A c.501C>A (p.Gly167=) | |
| X | g.19351355C>G | CA515485568 | PDHA1 | c.387C>G (p.Gly129=) c.366C>G (p.Gly122=) c.450C>G (p.Gly150=) c.480C>G (p.Gly160=) n.468C>G c.501C>G (p.Gly167=) | |
| X | g.19351355C>T | CA515485570 | PDHA1 | c.387C>T (p.Gly129=) c.366C>T (p.Gly122=) c.450C>T (p.Gly150=) c.480C>T (p.Gly160=) n.468C>T c.501C>T (p.Gly167=) | |
| X | g.19351356T>A | CA412391147 | PDHA1 | c.388T>A (p.Phe130Ile) c.367T>A (p.Phe123Ile) c.451T>A (p.Phe151Ile) c.481T>A (p.Phe161Ile) n.469T>A c.502T>A (p.Phe168Ile) | |
| X | g.19351356T>C | CA412391150 | PDHA1 | c.388T>C (p.Phe130Leu) c.367T>C (p.Phe123Leu) c.451T>C (p.Phe151Leu) c.481T>C (p.Phe161Leu) n.469T>C c.502T>C (p.Phe168Leu) | |
| X | g.19351356T>G | CA412391152 | PDHA1 | c.388T>G (p.Phe130Val) c.367T>G (p.Phe123Val) c.451T>G (p.Phe151Val) c.481T>G (p.Phe161Val) n.469T>G c.502T>G (p.Phe168Val) | |
| X | g.19351357T>A | CA412391154 | PDHA1 | c.389T>A (p.Phe130Tyr) c.368T>A (p.Phe123Tyr) c.452T>A (p.Phe151Tyr) c.482T>A (p.Phe161Tyr) n.470T>A c.503T>A (p.Phe168Tyr) | |
| X | g.19351357T>C | CA412391156 | PDHA1 | c.389T>C (p.Phe130Ser) c.368T>C (p.Phe123Ser) c.452T>C (p.Phe151Ser) c.482T>C (p.Phe161Ser) n.470T>C c.503T>C (p.Phe168Ser) | |
| X | g.19351357T>G | CA412391158 | PDHA1 | c.389T>G (p.Phe130Cys) c.368T>G (p.Phe123Cys) c.452T>G (p.Phe151Cys) c.482T>G (p.Phe161Cys) n.470T>G c.503T>G (p.Phe168Cys) | |
| X | g.19351358T>A | CA412391162 | PDHA1 | c.390T>A (p.Phe130Leu) c.369T>A (p.Phe123Leu) c.453T>A (p.Phe151Leu) c.483T>A (p.Phe161Leu) n.471T>A c.504T>A (p.Phe168Leu) | |
| X | g.19351358T>C | CA515485577 | PDHA1 | c.390T>C (p.Phe130=) c.369T>C (p.Phe123=) c.453T>C (p.Phe151=) c.483T>C (p.Phe161=) n.471T>C c.504T>C (p.Phe168=) | gnomAD v4 |
| X | g.19351358T>G | CA412391160 | PDHA1 | c.390T>G (p.Phe130Leu) c.369T>G (p.Phe123Leu) c.453T>G (p.Phe151Leu) c.483T>G (p.Phe161Leu) n.471T>G c.504T>G (p.Phe168Leu) | |
| X | g.19351359A>C | CA412391165 | PDHA1 | c.391A>C (p.Thr131Pro) c.370A>C (p.Thr124Pro) c.454A>C (p.Thr152Pro) c.484A>C (p.Thr162Pro) n.472A>C c.505A>C (p.Thr169Pro) | |
| X | g.19351359A>G | CA412391166 | PDHA1 | c.391A>G (p.Thr131Ala) c.370A>G (p.Thr124Ala) c.454A>G (p.Thr152Ala) c.484A>G (p.Thr162Ala) n.472A>G c.505A>G (p.Thr169Ala) | |
| X | g.19351359A>T | CA412391168 | PDHA1 | c.391A>T (p.Thr131Ser) c.370A>T (p.Thr124Ser) c.454A>T (p.Thr152Ser) c.484A>T (p.Thr162Ser) n.472A>T c.505A>T (p.Thr169Ser) | |
| X | g.19351360C>A | CA412391171 | PDHA1 | c.392C>A (p.Thr131Asn) c.371C>A (p.Thr124Asn) c.455C>A (p.Thr152Asn) c.485C>A (p.Thr162Asn) n.473C>A c.506C>A (p.Thr169Asn) | |
| X | g.19351360C>G | CA412391172 | PDHA1 | c.392C>G (p.Thr131Ser) c.371C>G (p.Thr124Ser) c.455C>G (p.Thr152Ser) c.485C>G (p.Thr162Ser) n.473C>G c.506C>G (p.Thr169Ser) | |
| X | g.19351360C>T | CA412391174 | PDHA1 | c.392C>T (p.Thr131Ile) c.371C>T (p.Thr124Ile) c.455C>T (p.Thr152Ile) c.485C>T (p.Thr162Ile) n.473C>T c.506C>T (p.Thr169Ile) | |
| X | g.19351361T>A | CA515485588 | PDHA1 | c.393T>A (p.Thr131=) c.372T>A (p.Thr124=) c.456T>A (p.Thr152=) c.486T>A (p.Thr162=) n.474T>A c.507T>A (p.Thr169=) | |
| X | g.19351361T>C | CA515485590 | PDHA1 | c.393T>C (p.Thr131=) c.372T>C (p.Thr124=) c.456T>C (p.Thr152=) c.486T>C (p.Thr162=) n.474T>C c.507T>C (p.Thr169=) | |
| X | g.19351361T>G | CA515485592 | PDHA1 | c.393T>G (p.Thr131=) c.372T>G (p.Thr124=) c.456T>G (p.Thr152=) c.486T>G (p.Thr162=) n.474T>G c.507T>G (p.Thr169=) | |
| X | g.19351362T>A | CA412391179 | PDHA1 | c.394T>A (p.Phe132Ile) c.373T>A (p.Phe125Ile) c.457T>A (p.Phe153Ile) c.487T>A (p.Phe163Ile) n.475T>A c.508T>A (p.Phe170Ile) | |
| X | g.19351362T>C | CA412391177 | PDHA1 | c.394T>C (p.Phe132Leu) c.373T>C (p.Phe125Leu) c.457T>C (p.Phe153Leu) c.487T>C (p.Phe163Leu) n.475T>C c.508T>C (p.Phe170Leu) | gnomAD v4 |
| X | g.19351362T>G | CA412391178 | PDHA1 | c.394T>G (p.Phe132Val) c.373T>G (p.Phe125Val) c.457T>G (p.Phe153Val) c.487T>G (p.Phe163Val) n.475T>G c.508T>G (p.Phe170Val) | |
| X | g.19351363T>A | CA412391180 | PDHA1 | c.395T>A (p.Phe132Tyr) c.374T>A (p.Phe125Tyr) c.458T>A (p.Phe153Tyr) c.488T>A (p.Phe163Tyr) n.476T>A c.509T>A (p.Phe170Tyr) | |
| X | g.19351363T>C | CA412391181 | PDHA1 | c.395T>C (p.Phe132Ser) c.374T>C (p.Phe125Ser) c.458T>C (p.Phe153Ser) c.488T>C (p.Phe163Ser) n.476T>C c.509T>C (p.Phe170Ser) | |
| X | g.19351363T>G | CA412391183 | PDHA1 | c.395T>G (p.Phe132Cys) c.374T>G (p.Phe125Cys) c.458T>G (p.Phe153Cys) c.488T>G (p.Phe163Cys) n.476T>G c.509T>G (p.Phe170Cys) | |
| X | g.19351364C>A | CA412391185 | PDHA1 | c.396C>A (p.Phe132Leu) c.375C>A (p.Phe125Leu) c.459C>A (p.Phe153Leu) c.489C>A (p.Phe163Leu) n.477C>A c.510C>A (p.Phe170Leu) | |
| X | g.19351364C= | CA2418222117 | PDHA1 | c.396C= (p.Phe132=) c.375C= (p.Phe125=) c.459C= (p.Phe153=) c.489C= (p.Phe163=) n.477C= c.510C= (p.Phe170=) | |
| X | g.19351364C>G | CA412391187 | PDHA1 | c.396C>G (p.Phe132Leu) c.375C>G (p.Phe125Leu) c.459C>G (p.Phe153Leu) c.489C>G (p.Phe163Leu) n.477C>G c.510C>G (p.Phe170Leu) | |
| X | g.19351364C>T | CA515485602 | PDHA1 | c.396C>T (p.Phe132=) c.375C>T (p.Phe125=) c.459C>T (p.Phe153=) c.489C>T (p.Phe163=) n.477C>T c.510C>T (p.Phe170=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19351365_19351366del | CA2579566225 | PDHA1 | c.397_398del (p.Thr133ProfsTer21) c.376_377del (p.Thr126ProfsTer21) c.460_461del (p.Thr154ProfsTer21) c.490_491del (p.Thr164ProfsTer21) c.376_377del (p.Thr126ProfsTer?) c.376_377del (p.Thr126ProfsTer23) n.478_479del c.511_512del (p.Thr171ProfsTer21) | |
| X | g.19351365A>C | CA412391189 | PDHA1 | c.397A>C (p.Thr133Pro) c.376A>C (p.Thr126Pro) c.460A>C (p.Thr154Pro) c.490A>C (p.Thr164Pro) n.478A>C c.511A>C (p.Thr171Pro) | |
| X | g.19351365A>G | CA412391193 | PDHA1 | c.397A>G (p.Thr133Ala) c.376A>G (p.Thr126Ala) c.460A>G (p.Thr154Ala) c.490A>G (p.Thr164Ala) n.478A>G c.511A>G (p.Thr171Ala) | gnomAD v4 |
| X | g.19351365A>T | CA412391191 | PDHA1 | c.397A>T (p.Thr133Ser) c.376A>T (p.Thr126Ser) c.460A>T (p.Thr154Ser) c.490A>T (p.Thr164Ser) n.478A>T c.511A>T (p.Thr171Ser) | |
| X | g.19351366C>A | CA412391196 | PDHA1 | c.398C>A (p.Thr133Asn) c.377C>A (p.Thr126Asn) c.461C>A (p.Thr154Asn) c.491C>A (p.Thr164Asn) n.479C>A c.512C>A (p.Thr171Asn) | |
| X | g.19351366C>G | CA412391198 | PDHA1 | c.398C>G (p.Thr133Ser) c.377C>G (p.Thr126Ser) c.461C>G (p.Thr154Ser) c.491C>G (p.Thr164Ser) n.479C>G c.512C>G (p.Thr171Ser) | |
| X | g.19351366C>T | CA412391200 | PDHA1 | c.398C>T (p.Thr133Ile) c.377C>T (p.Thr126Ile) c.461C>T (p.Thr154Ile) c.491C>T (p.Thr164Ile) n.479C>T c.512C>T (p.Thr171Ile) | |
| X | g.19351367C>A | CA515485610 | PDHA1 | c.399C>A (p.Thr133=) c.378C>A (p.Thr126=) c.462C>A (p.Thr154=) c.492C>A (p.Thr164=) n.480C>A c.513C>A (p.Thr171=) | |
| X | g.19351367C= | CA2418222118 | PDHA1 | c.399C= (p.Thr133=) c.378C= (p.Thr126=) c.462C= (p.Thr154=) c.492C= (p.Thr164=) n.480C= c.513C= (p.Thr171=) | |
| X | g.19351367C>G | CA515485611 | PDHA1 | c.399C>G (p.Thr133=) c.378C>G (p.Thr126=) c.462C>G (p.Thr154=) c.492C>G (p.Thr164=) n.480C>G c.513C>G (p.Thr171=) | dbSNP |
| X | g.19351367C>T | CA515485613 | PDHA1 | c.399C>T (p.Thr133=) c.378C>T (p.Thr126=) c.462C>T (p.Thr154=) c.492C>T (p.Thr164=) n.480C>T c.513C>T (p.Thr171=) | |
| X | g.19351368C>A | CA515485615 | PDHA1 | c.400C>A (p.Arg134=) c.379C>A (p.Arg127=) c.463C>A (p.Arg155=) c.493C>A (p.Arg165=) n.481C>A c.514C>A (p.Arg172=) | |
| X | g.19351368C= | CA2418222119 | PDHA1 | c.400C= (p.Arg134=) c.379C= (p.Arg127=) c.463C= (p.Arg155=) c.493C= (p.Arg165=) n.481C= c.514C= (p.Arg172=) | |
| X | g.19351368C>G | CA412391201 | PDHA1 | c.400C>G (p.Arg134Gly) c.379C>G (p.Arg127Gly) c.463C>G (p.Arg155Gly) c.493C>G (p.Arg165Gly) n.481C>G c.514C>G (p.Arg172Gly) | |
| X | g.19351368C>T | CA321249 | PDHA1 | c.400C>T (p.Arg134Trp) c.379C>T (p.Arg127Trp) c.463C>T (p.Arg155Trp) c.493C>T (p.Arg165Trp) n.481C>T c.514C>T (p.Arg172Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.19351369G>A | CA412391206 | PDHA1 | c.401G>A (p.Arg134Gln) c.380G>A (p.Arg127Gln) c.464G>A (p.Arg155Gln) c.494G>A (p.Arg165Gln) n.482G>A c.515G>A (p.Arg172Gln) | ClinVar dbSNP |
| X | g.19351369G>C | CA412391208 | PDHA1 | c.401G>C (p.Arg134Pro) c.380G>C (p.Arg127Pro) c.464G>C (p.Arg155Pro) c.494G>C (p.Arg165Pro) n.482G>C c.515G>C (p.Arg172Pro) | |
| X | g.19351369G= | CA2418222120 | PDHA1 | c.401G= (p.Arg134=) c.380G= (p.Arg127=) c.464G= (p.Arg155=) c.494G= (p.Arg165=) n.482G= c.515G= (p.Arg172=) | |
| X | g.19351369G>T | CA412391209 | PDHA1 | c.401G>T (p.Arg134Leu) c.380G>T (p.Arg127Leu) c.464G>T (p.Arg155Leu) c.494G>T (p.Arg165Leu) n.482G>T c.515G>T (p.Arg172Leu) |