| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123376950G>C | CA199643076 | CRB2 | c.3746G>C (p.Arg1249Pro) c.2750G>C (p.Arg917Pro) n.2860G>C c.3719G>C (p.Arg1240Pro) c.3551G>C (p.Arg1184Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.123376950G>A | CA185951 | CRB2 | c.3746G>A (p.Arg1249Gln) c.2750G>A (p.Arg917Gln) n.2860G>A c.3719G>A (p.Arg1240Gln) c.3551G>A (p.Arg1184Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |