| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19350033C>A | CA412390243 | PDHA1 | c.214C>A (p.Arg72Ser) c.298C>A (p.Arg100Ser) c.328C>A (p.Arg110Ser) n.316C>A | |
| X | g.19350033C= | CA2418221697 | PDHA1 | c.214C= (p.Arg72=) c.298C= (p.Arg100=) c.328C= (p.Arg110=) n.316C= | |
| X | g.19350033C>G | CA412390246 | PDHA1 | c.214C>G (p.Arg72Gly) c.298C>G (p.Arg100Gly) c.328C>G (p.Arg110Gly) n.316C>G | |
| X | g.19350033C>T | CA320653 | PDHA1 | c.214C>T (p.Arg72Cys) c.298C>T (p.Arg100Cys) c.328C>T (p.Arg110Cys) n.316C>T | ClinVar dbSNP |
| X | g.19350034G>A | CA412390252 | PDHA1 | c.215G>A (p.Arg72His) c.299G>A (p.Arg100His) c.329G>A (p.Arg110His) n.317G>A | gnomAD v4 |
| X | g.19350034G>C | CA412390256 | PDHA1 | c.215G>C (p.Arg72Pro) c.299G>C (p.Arg100Pro) c.329G>C (p.Arg110Pro) n.317G>C | |
| X | g.19350034G>T | CA412390260 | PDHA1 | c.215G>T (p.Arg72Leu) c.299G>T (p.Arg100Leu) c.329G>T (p.Arg110Leu) n.317G>T | |
| X | g.19350035C>A | CA515485376 | PDHA1 | c.216C>A (p.Arg72=) c.300C>A (p.Arg100=) c.330C>A (p.Arg110=) n.318C>A | |
| X | g.19350035C>G | CA515485374 | PDHA1 | c.216C>G (p.Arg72=) c.300C>G (p.Arg100=) c.330C>G (p.Arg110=) n.318C>G | |
| X | g.19350035C>T | CA515485375 | PDHA1 | c.216C>T (p.Arg72=) c.300C>T (p.Arg100=) c.330C>T (p.Arg110=) n.318C>T | gnomAD v4 |
| X | g.19350036C>A | CA10363005 | PDHA1 | c.217C>A (p.Arg73=) c.301C>A (p.Arg101=) c.331C>A (p.Arg111=) n.319C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19350036C= | CA2418221698 | PDHA1 | c.217C= (p.Arg73=) c.301C= (p.Arg101=) c.331C= (p.Arg111=) n.319C= | |
| X | g.19350036C>G | CA412390268 | PDHA1 | c.217C>G (p.Arg73Gly) c.301C>G (p.Arg101Gly) c.331C>G (p.Arg111Gly) n.319C>G | |
| X | g.19350036C>T | CA412390264 | PDHA1 | c.217C>T (p.Arg73Ter) c.301C>T (p.Arg101Ter) c.331C>T (p.Arg111Ter) n.319C>T | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.19350037G>A | CA10363006 | PDHA1 | c.218G>A (p.Arg73Gln) c.302G>A (p.Arg101Gln) c.332G>A (p.Arg111Gln) n.320G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19350037G>C | CA412390273 | PDHA1 | c.218G>C (p.Arg73Pro) c.302G>C (p.Arg101Pro) c.332G>C (p.Arg111Pro) n.320G>C | |
| X | g.19350037G= | CA2418221699 | PDHA1 | c.218G= (p.Arg73=) c.302G= (p.Arg101=) c.332G= (p.Arg111=) n.320G= | |
| X | g.19350037G>T | CA412390279 | PDHA1 | c.218G>T (p.Arg73Leu) c.302G>T (p.Arg101Leu) c.332G>T (p.Arg111Leu) n.320G>T | |
| X | g.19350038A>C | CA515485377 | PDHA1 | c.219A>C (p.Arg73=) c.303A>C (p.Arg101=) c.333A>C (p.Arg111=) n.321A>C | |
| X | g.19350038A>G | CA515485378 | PDHA1 | c.219A>G (p.Arg73=) c.303A>G (p.Arg101=) c.333A>G (p.Arg111=) n.321A>G | |
| X | g.19350038A>T | CA515485379 | PDHA1 | c.219A>T (p.Arg73=) c.303A>T (p.Arg101=) c.333A>T (p.Arg111=) n.321A>T | |
| X | g.19350039A>C | CA412390283 | PDHA1 | c.220A>C (p.Met74Leu) c.304A>C (p.Met102Leu) c.334A>C (p.Met112Leu) n.322A>C | |
| X | g.19350039A>G | CA412390286 | PDHA1 | c.220A>G (p.Met74Val) c.304A>G (p.Met102Val) c.334A>G (p.Met112Val) n.322A>G | |
| X | g.19350039A>T | CA412390288 | PDHA1 | c.220A>T (p.Met74Leu) c.304A>T (p.Met102Leu) c.334A>T (p.Met112Leu) n.322A>T | |
| X | g.19350040T>A | CA412390292 | PDHA1 | c.221T>A (p.Met74Lys) c.305T>A (p.Met102Lys) c.335T>A (p.Met112Lys) n.323T>A | |
| X | g.19350040T>C | CA412390296 | PDHA1 | c.221T>C (p.Met74Thr) c.305T>C (p.Met102Thr) c.335T>C (p.Met112Thr) n.323T>C | |
| X | g.19350040T>G | CA412390297 | PDHA1 | c.221T>G (p.Met74Arg) c.305T>G (p.Met102Arg) c.335T>G (p.Met112Arg) n.323T>G | |
| X | g.19350041G>A | CA412390303 | PDHA1 | c.222G>A (p.Met74Ile) c.306G>A (p.Met102Ile) c.336G>A (p.Met112Ile) n.324G>A | |
| X | g.19350041G>C | CA412390306 | PDHA1 | c.222G>C (p.Met74Ile) c.306G>C (p.Met102Ile) c.336G>C (p.Met112Ile) n.324G>C | |
| X | g.19350041G>T | CA412390308 | PDHA1 | c.222G>T (p.Met74Ile) c.306G>T (p.Met102Ile) c.336G>T (p.Met112Ile) n.324G>T | |
| X | g.19350042G>A | CA412390311 | PDHA1 | c.223G>A (p.Glu75Lys) c.307G>A (p.Glu103Lys) c.337G>A (p.Glu113Lys) n.325G>A | |
| X | g.19350042G>C | CA412390314 | PDHA1 | c.223G>C (p.Glu75Gln) c.307G>C (p.Glu103Gln) c.337G>C (p.Glu113Gln) n.325G>C | |
| X | g.19350042G>T | CA412390316 | PDHA1 | c.223G>T (p.Glu75Ter) c.307G>T (p.Glu103Ter) c.337G>T (p.Glu113Ter) n.325G>T | |
| X | g.19350043A>C | CA412390326 | PDHA1 | c.224A>C (p.Glu75Ala) c.308A>C (p.Glu103Ala) c.338A>C (p.Glu113Ala) n.326A>C | |
| X | g.19350043A>G | CA412390323 | PDHA1 | c.224A>G (p.Glu75Gly) c.308A>G (p.Glu103Gly) c.338A>G (p.Glu113Gly) n.326A>G | |
| X | g.19350043A>T | CA412390320 | PDHA1 | c.224A>T (p.Glu75Val) c.308A>T (p.Glu103Val) c.338A>T (p.Glu113Val) n.326A>T | |
| X | g.19350044G>A | CA515485380 | PDHA1 | c.225G>A (p.Glu75=) c.309G>A (p.Glu103=) c.339G>A (p.Glu113=) n.327G>A | ClinVar dbSNP |
| X | g.19350044G>C | CA412390329 | PDHA1 | c.225G>C (p.Glu75Asp) c.309G>C (p.Glu103Asp) c.339G>C (p.Glu113Asp) n.327G>C | |
| X | g.19350044G= | CA2418221700 | PDHA1 | c.225G= (p.Glu75=) c.309G= (p.Glu103=) c.339G= (p.Glu113=) n.327G= | |
| X | g.19350044G>T | CA412390333 | PDHA1 | c.225G>T (p.Glu75Asp) c.309G>T (p.Glu103Asp) c.339G>T (p.Glu113Asp) n.327G>T | ClinVar dbSNP |
| X | g.19350045T>A | CA412390337 | PDHA1 | c.226T>A (p.Leu76Met) c.310T>A (p.Leu104Met) c.340T>A (p.Leu114Met) n.328T>A | |
| X | g.19350045T>C | CA515485381 | PDHA1 | c.226T>C (p.Leu76=) c.310T>C (p.Leu104=) c.340T>C (p.Leu114=) n.328T>C | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.19350045T>G | CA412390341 | PDHA1 | c.226T>G (p.Leu76Val) c.310T>G (p.Leu104Val) c.340T>G (p.Leu114Val) n.328T>G | |
| X | g.19350046T>A | CA412390346 | PDHA1 | c.227T>A (p.Leu76Ter) c.311T>A (p.Leu104Ter) c.341T>A (p.Leu114Ter) n.329T>A | |
| X | g.19350046T>C | CA412390349 | PDHA1 | c.227T>C (p.Leu76Ser) c.311T>C (p.Leu104Ser) c.341T>C (p.Leu114Ser) n.329T>C | |
| X | g.19350046T>G | CA412390352 | PDHA1 | c.227T>G (p.Leu76Trp) c.311T>G (p.Leu104Trp) c.341T>G (p.Leu114Trp) n.329T>G | |
| X | g.19350047G>A | CA515485382 | PDHA1 | c.228G>A (p.Leu76=) c.312G>A (p.Leu104=) c.342G>A (p.Leu114=) n.330G>A | |
| X | g.19350047G>C | CA412390355 | PDHA1 | c.228G>C (p.Leu76Phe) c.312G>C (p.Leu104Phe) c.342G>C (p.Leu114Phe) n.330G>C | |
| X | g.19350047G>T | CA412390358 | PDHA1 | c.228G>T (p.Leu76Phe) c.312G>T (p.Leu104Phe) c.342G>T (p.Leu114Phe) n.330G>T | |
| X | g.19350048A>C | CA412390363 | PDHA1 | c.229A>C (p.Lys77Gln) c.313A>C (p.Lys105Gln) c.343A>C (p.Lys115Gln) n.331A>C |