| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.40866768A>C | CA119162 | KRT12 | c.419T>G (p.Leu140Arg) c.311T>G (p.Leu104Arg) n.1500+15908A>C n.2008+15908A>C | ClinVar dbSNP |
| 17 | g.40866768A= | CA2259745815 | KRT12 | c.419T= (p.Leu140=) c.311T= (p.Leu104=) n.1500+15908A= n.2008+15908A= | dbSNP |