| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.123686884G>A | CA245195428 | TCTN2 | c.613G>A (p.Gly205Ser) c.610G>A (p.Gly204Ser) c.-173G>A (n.-173G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.123686884G>T | CA210323 | TCTN2 | c.613G>T (p.Gly205Cys) c.610G>T (p.Gly204Cys) c.-173G>T (n.-173G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |