| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41612324T>G | CA217378 | KRT16 | c.365A>C (p.Gln122Pro) n.442A>C c.-312-38A>C (n.-312-38A>C) | ClinVar dbSNP |
| 17 | g.41612324T>C | CA277512 | KRT16 | c.365A>G (p.Gln122Arg) n.442A>G c.-312-38A>G (n.-312-38A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41612324T= | CA2260099702 | KRT16 | c.365A= (p.Gln122=) n.442A= c.-312-38A= (n.-312-38A=) | dbSNP |