| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150396669C>T | CA155689 | TCOF1 | c.4055C>T (p.Ala1352Val) c.4172C>T (p.Ala1391Val) c.3827C>T (p.Ala1276Val) c.3571C>T c.3938C>T (p.Ala1313Val) c.4169C>T (p.Ala1390Val) c.4058C>T (p.Ala1353Val) c.3941C>T (p.Ala1314Val) c.343-74C>T (n.343-74C>T) c.4283C>T (p.Ala1428Val) c.4280C>T (p.Ala1427Val) c.4052C>T (p.Ala1351Val) c.4103C>T (p.Ala1368Val) c.4166C>T (p.Ala1389Val) c.3992C>T (p.Ala1331Val) c.3878C>T (p.Ala1293Val) n.4289C>T n.4178C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150396669C= | CA1590927582 | TCOF1 | c.4055C= (p.Ala1352=) c.4172C= (p.Ala1391=) c.3827C= (p.Ala1276=) c.3571C= c.3938C= (p.Ala1313=) c.4169C= (p.Ala1390=) c.4058C= (p.Ala1353=) c.3941C= (p.Ala1314=) c.343-74C= (n.343-74C=) c.4283C= (p.Ala1428=) c.4280C= (p.Ala1427=) c.4052C= (p.Ala1351=) c.4103C= (p.Ala1368=) c.4166C= (p.Ala1389=) c.3992C= (p.Ala1331=) c.3878C= (p.Ala1293=) n.4289C= n.4178C= | dbSNP |