| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52813844G>T | CA384991028 | KRT4 | c.215C>A (p.Ala72Asp) c.211+4C>A (n.211+4C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.52813844G>A | CA6588815 | KRT4 | c.215C>T (p.Ala72Val) c.211+4C>T (n.211+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52813844G= | CA2036663462 | KRT4 | c.215C= (p.Ala72=) c.211+4C= (n.211+4C=) | dbSNP |