| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18765448G>A | CA9315690 | CRTC1 | c.931G>A (p.Val311Ile) c.979G>A (p.Val327Ile) c.808G>A (p.Val270Ile) c.706G>A (p.Val236Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18765448G>T | CA404866498 | CRTC1 | c.931G>T (p.Val311Phe) c.979G>T (p.Val327Phe) c.808G>T (p.Val270Phe) c.706G>T (p.Val236Phe) | dbSNP gnomAD v4 |
| 19 | g.18765448G= | CA2326515051 | CRTC1 | c.931G= (p.Val311=) c.979G= (p.Val327=) c.808G= (p.Val270=) c.706G= (p.Val236=) | dbSNP |