| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52675230T>A | CA384957043 | KRT1 | c.1898A>T (p.Lys633Met) | dbSNP |
| 12 | g.52675230T>C | CA6586007 | KRT1 | c.1898A>G (p.Lys633Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52675230T>G | CA384957035 | KRT1 | c.1898A>C (p.Lys633Thr) | dbSNP |
| 12 | g.52675230T= | CA1630855681 | KRT1 | c.1898A= (p.Lys633=) | dbSNP |