| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161984849C>A | CA31742116 | OLFML2B | c.1606G>T (p.Gly536Cys) c.55G>T (p.Gly19Cys) c.1609G>T (p.Gly537Cys) c.1612G>T (p.Gly538Cys) c.886G>T (p.Gly296Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161984849C>T | CA248469 | OLFML2B | c.1606G>A (p.Gly536Ser) c.55G>A (p.Gly19Ser) c.1609G>A (p.Gly537Ser) c.1612G>A (p.Gly538Ser) c.886G>A (p.Gly296Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |