| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.50242317T>G | CA7554471 | HDC | c.1932A>C (p.Glu644Asp) c.1833A>C (p.Glu611Asp) n.1676A>C c.1695A>C (p.Glu565Asp) c.1500A>C (p.Glu500Asp) c.2037A>C (p.Glu679Asp) c.1938A>C (p.Glu646Asp) c.1809A>C (p.Glu603Asp) c.1800A>C (p.Glu600Asp) c.1605A>C (p.Glu535Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.50242317T= | CA2176326548 | HDC | c.1932A= (p.Glu644=) c.1833A= (p.Glu611=) n.1676A= c.1695A= (p.Glu565=) c.1500A= (p.Glu500=) c.2037A= (p.Glu679=) c.1938A= (p.Glu646=) c.1809A= (p.Glu603=) c.1800A= (p.Glu600=) c.1605A= (p.Glu535=) | dbSNP |