| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81868973C>A | CA163430 | ARHGDIA | c.518G>T (p.Gly173Val) c.416-30G>T (n.416-30G>T) c.502+16G>T (n.502+16G>T) c.*162G>T (n.*162G>T) c.293G>T (p.Gly98Val) n.720G>T c.436-30G>T (n.436-30G>T) c.653G>T (p.Gly218Val) n.577G>T n.508G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81868973C= | CA2278712707 | ARHGDIA | c.518G= (p.Gly173=) c.416-30G= (n.416-30G=) c.502+16G= (n.502+16G=) c.*162G= (n.*162G=) c.293G= (p.Gly98=) n.720G= c.436-30G= (n.436-30G=) c.653G= (p.Gly218=) n.577G= n.508G= | dbSNP |