| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.29642270C>T | CA514192384 | NF2 | c.432C>T (p.Tyr144=) c.*314C>T (n.*314C>T) c.345C>T (p.Tyr115=) c.183C>T (p.Tyr61=) c.309C>T (p.Tyr103=) c.306C>T (p.Tyr102=) n.991C>T c.318C>T (p.Tyr106=) n.914C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.29642270C>G | CA16616357 | NF2 | c.432C>G (p.Tyr144Ter) c.*314C>G (n.*314C>G) c.345C>G (p.Tyr115Ter) c.183C>G (p.Tyr61Ter) c.309C>G (p.Tyr103Ter) c.306C>G (p.Tyr102Ter) n.991C>G c.318C>G (p.Tyr106Ter) n.914C>G | ClinVar dbSNP COSMIC |
| 22 | g.29642270C>A | CA411153862 | NF2 | c.432C>A (p.Tyr144Ter) c.*314C>A (n.*314C>A) c.345C>A (p.Tyr115Ter) c.183C>A (p.Tyr61Ter) c.309C>A (p.Tyr103Ter) c.306C>A (p.Tyr102Ter) n.991C>A c.318C>A (p.Tyr106Ter) n.914C>A | dbSNP COSMIC COSMIC |