Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.33061326T>C | CA6944273 | KL | c.2247T>C (p.Ala749=) n.2305T>C c.1326T>C (p.Ala442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.33061326T>A | CA483442756 | KL | c.2247T>A (p.Ala749=) n.2305T>A c.1326T>A (p.Ala442=) | dbSNP |
13 | g.33061326T= | CA2083141450 | KL | c.2247T= (p.Ala749=) n.2305T= c.1326T= (p.Ala442=) | dbSNP |