| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178856319G>T | CA430102970 | CCDC141 | c.2803C>A (p.Arg935=) c.1135C>A (p.Arg379=) c.2623C>A (p.Arg875=) c.859C>A (p.Arg287=) n.1352+27665G>T c.1513C>A (p.Arg505=) n.2992C>A | dbSNP COSMIC COSMIC |
| 2 | g.178856319G>A | CA2006885 | CCDC141 | c.2803C>T (p.Arg935Trp) c.1135C>T (p.Arg379Trp) c.2623C>T (p.Arg875Trp) c.859C>T (p.Arg287Trp) n.1352+27665G>A c.1513C>T (p.Arg505Trp) n.2992C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178856319G>C | CA349443661 | CCDC141 | c.2803C>G (p.Arg935Gly) c.1135C>G (p.Arg379Gly) c.2623C>G (p.Arg875Gly) c.859C>G (p.Arg287Gly) n.1352+27665G>C c.1513C>G (p.Arg505Gly) n.2992C>G | dbSNP gnomAD v4 |
| 2 | g.178856319G= | CA1310652990 | CCDC141 | c.2803C= (p.Arg935=) c.1135C= (p.Arg379=) c.2623C= (p.Arg875=) c.859C= (p.Arg287=) n.1352+27665G= c.1513C= (p.Arg505=) n.2992C= | dbSNP |