| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.35176644G>C | CA5946297 | CD44 | c.137G>C (p.Arg46Pro) c.70G>C c.4G>C c.17G>C (p.Arg6Pro) c.135G>C c.74G>C (p.Arg25Pro) c.71G>C (p.Arg24Pro) n.270G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.35176644G>A | CA5946298 | CD44 | c.137G>A (p.Arg46Gln) c.70G>A c.4G>A c.17G>A (p.Arg6Gln) c.135G>A c.74G>A (p.Arg25Gln) c.71G>A (p.Arg24Gln) n.270G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |