| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.33954407del | CA253175 | SLC45A2 | c.986del (p.Thr329LysfsTer?) c.660del (p.Asp220GlufsTer?) c.461del (p.Thr154LysfsTer?) c.584del (p.Thr195LysfsTer?) n.1803del | ClinVar dbSNP |
| 5 | g.33954407G= | CA1538213148 | SLC45A2 | c.986C= (p.Thr329=) c.660C= (p.Asp220=) c.461C= (p.Thr154=) c.584C= (p.Thr195=) n.1803C= | dbSNP dbSNP |