Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.10048376G>T | CA118315 | KLF11 | c.1039G>T (p.Ala347Ser) c.988G>T (p.Ala330Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.10048376G= | CA2488331540 | KLF11 | c.1039G= (p.Ala347=) c.988G= (p.Ala330=) | dbSNP |
2 | g.10048376G>A | CA345803695 | KLF11 | c.1039G>A (p.Ala347Thr) c.988G>A (p.Ala330Thr) | ClinVar dbSNP |