| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.122867553A>T | CA383053199 | CRTAM | c.962A>T (p.Lys321Ile) n.274A>T c.365A>T (p.Lys122Ile) c.809A>T (p.Lys270Ile) | dbSNP gnomAD v4 |
| 11 | g.122867553A>G | CA6331384 | CRTAM | c.962A>G (p.Lys321Arg) n.274A>G c.365A>G (p.Lys122Arg) c.809A>G (p.Lys270Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.122867553A= | CA2005526928 | CRTAM | c.962A= (p.Lys321=) n.274A= c.365A= (p.Lys122=) c.809A= (p.Lys270=) | dbSNP |