| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41612309C>T | CA8563281 | KRT16 | c.380G>A (p.Arg127His) n.457G>A c.-312-23G>A (n.-312-23G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41612309C>G | CA217385 | KRT16 | c.380G>C (p.Arg127Pro) n.457G>C c.-312-23G>C (n.-312-23G>C) | ClinVar dbSNP |
| 17 | g.41612309C= | CA2260099689 | KRT16 | c.380G= (p.Arg127=) n.457G= c.-312-23G= (n.-312-23G=) | dbSNP |
| 17 | g.41612309C>A | CA399494773 | KRT16 | c.380G>T (p.Arg127Leu) n.457G>T c.-312-23G>T (n.-312-23G>T) | ClinVar dbSNP COSMIC |