Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129532288G>T | CA256684 | RHO | c.568G>T (p.Asp190Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.129532288G>C | CA354499304 | RHO | c.568G>C (p.Asp190His) | ClinVar dbSNP |
3 | g.129532288G>A | CA256670 | RHO | c.568G>A (p.Asp190Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.129532288G= | CA1401211029 | RHO | c.568G= (p.Asp190=) | dbSNP |