| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.150836413C>G | CA1081163 | ARNT | c.567G>C (p.Val189=) n.87G>C c.522G>C (p.Val174=) c.540G>C (p.Val180=) c.564G>C (p.Val188=) c.561G>C (p.Val187=) c.519G>C (p.Val173=) c.471G>C (p.Val157=) c.495G>C (p.Val165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150836413C= | CA1139921798 | ARNT | c.567G= (p.Val189=) n.87G= c.522G= (p.Val174=) c.540G= (p.Val180=) c.564G= (p.Val188=) c.561G= (p.Val187=) c.519G= (p.Val173=) c.471G= (p.Val157=) c.495G= (p.Val165=) | dbSNP |