| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.2993574C>A | CA212268 | TLE6 | c.1529C>A (p.Ser510Tyr) c.1160C>A (p.Ser387Tyr) n.1222C>A c.1158C>A (p.Leu386=) c.1010C>A (p.Ser337Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.2993574C>G | CA9073126 | TLE6 | c.1529C>G (p.Ser510Cys) c.1160C>G (p.Ser387Cys) n.1222C>G c.1158C>G (p.Leu386=) c.1010C>G (p.Ser337Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.2993574C= | CA2318614259 | TLE6 | c.1529C= (p.Ser510=) c.1160C= (p.Ser387=) n.1222C= c.1158C= (p.Leu386=) c.1010C= (p.Ser337=) | dbSNP |