Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.88472308A>T | CA390552616 | PTPN21 | c.2807T>A (p.Val936Glu) c.*2744T>A (n.*2744T>A) n.2920T>A n.426T>A c.2438T>A (p.Val813Glu) c.2195T>A (p.Val732Glu) | dbSNP gnomAD v4 |
14 | g.88472308A>G | CA7299134 | PTPN21 | c.2807T>C (p.Val936Ala) c.*2744T>C (n.*2744T>C) n.2920T>C n.426T>C c.2438T>C (p.Val813Ala) c.2195T>C (p.Val732Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |