| 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.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) |