| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.50242592A>G | CA7554520 | HDC | c.1657T>C (p.Phe553Leu) c.1558T>C (p.Phe520Leu) n.1401T>C c.1420T>C (p.Phe474Leu) c.1225T>C (p.Phe409Leu) c.1762T>C (p.Phe588Leu) c.1663T>C (p.Phe555Leu) c.1534T>C (p.Phe512Leu) c.1525T>C (p.Phe509Leu) c.1330T>C (p.Phe444Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242592A= | CA2176326657 | HDC | c.1657T= (p.Phe553=) c.1558T= (p.Phe520=) n.1401T= c.1420T= (p.Phe474=) c.1225T= (p.Phe409=) c.1762T= (p.Phe588=) c.1663T= (p.Phe555=) c.1534T= (p.Phe512=) c.1525T= (p.Phe509=) c.1330T= (p.Phe444=) | dbSNP |