Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18783129G>T | CA9316160 | COMP | c.2152C>A (p.Arg718=) c.1993C>A (p.Arg665=) c.2053C>A (p.Arg685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18783129G>A | CA340882 | COMP | c.2152C>T (p.Arg718Trp) c.1993C>T (p.Arg665Trp) c.2053C>T (p.Arg685Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |