| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355710G>A | CA204901 | PDHA1 | c.805G>A (p.Val269Ile) c.*476G>A (n.*476G>A) c.868G>A (p.Val290Ile) c.898G>A (p.Val300Ile) n.579G>A c.*116G>A (n.*116G>A) c.*239G>A (n.*239G>A) c.784G>A (p.Val262Ile) c.-60G>A (n.-60G>A) n.212G>A c.691G>A (p.Val231Ile) c.919G>A (p.Val307Ile) c.826G>A (p.Val276Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19355710G>T | CA412394768 | PDHA1 | c.805G>T (p.Val269Phe) c.*476G>T (n.*476G>T) c.868G>T (p.Val290Phe) c.898G>T (p.Val300Phe) n.579G>T c.*116G>T (n.*116G>T) c.*239G>T (n.*239G>T) c.784G>T (p.Val262Phe) c.-60G>T (n.-60G>T) n.212G>T c.691G>T (p.Val231Phe) c.919G>T (p.Val307Phe) c.826G>T (p.Val276Phe) | ClinVar dbSNP |
| X | g.19355710G= | CA2418223748 | PDHA1 | c.805G= (p.Val269=) c.*476G= (n.*476G=) c.868G= (p.Val290=) c.898G= (p.Val300=) n.579G= c.*116G= (n.*116G=) c.*239G= (n.*239G=) c.784G= (p.Val262=) c.-60G= (n.-60G=) n.212G= c.691G= (p.Val231=) c.919G= (p.Val307=) c.826G= (p.Val276=) | dbSNP |