| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1650884T>C | CA252740 | PRPF8 | c.6746A>G (p.His2249Arg) c.2674A>G c.*6649A>G (n.*6649A>G) n.3240A>G c.6779A>G (p.His2260Arg) c.6791A>G (p.His2264Arg) c.6926A>G (p.His2309Arg) c.163-38A>G n.915A>G | ClinVar dbSNP |
| 17 | g.1650884T>A | CA397562042 | PRPF8 | c.6746A>T (p.His2249Leu) c.2674A>T c.*6649A>T (n.*6649A>T) n.3240A>T c.6779A>T (p.His2260Leu) c.6791A>T (p.His2264Leu) c.6926A>T (p.His2309Leu) c.163-38A>T n.915A>T | ClinVar dbSNP |
| 17 | g.1650884T>G | CA252741 | PRPF8 | c.6746A>C (p.His2249Pro) c.2674A>C c.*6649A>C (n.*6649A>C) n.3240A>C c.6779A>C (p.His2260Pro) c.6791A>C (p.His2264Pro) c.6926A>C (p.His2309Pro) c.163-38A>C n.915A>C | ClinVar dbSNP |