| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54626835A>G | CA370994983 | RP1 | c.2953A>G (p.Asn985Asp) c.787+4547A>G (n.787+4547A>G) c.2974A>G (p.Asn992Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54626835A>T | CA117881 | RP1 | c.2953A>T (p.Asn985Tyr) c.787+4547A>T (n.787+4547A>T) c.2974A>T (p.Asn992Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626835A= | CA1630835165 | RP1 | c.2953A= (p.Asn985=) c.787+4547A= (n.787+4547A=) c.2974A= (p.Asn992=) | dbSNP |