| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66685935C>T | CA6127635 | SPTBN2 | c.7109G>A (p.Arg2370His) c.7130G>A (p.Arg2377His) n.7636G>A n.290G>A c.7402G>A (n.7402G>A) c.2741G>A (p.Arg914His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66685935C= | CA1979796762 | SPTBN2 | c.7109G= (p.Arg2370=) c.7130G= (p.Arg2377=) n.7636G= n.290G= c.7402G= (n.7402G=) c.2741G= (p.Arg914=) | dbSNP |
| 11 | g.66685935C>G | CA381452437 | SPTBN2 | c.7109G>C (p.Arg2370Pro) c.7130G>C (p.Arg2377Pro) n.7636G>C n.290G>C c.7402G>C (n.7402G>C) c.2741G>C (p.Arg914Pro) | dbSNP gnomAD v4 |