| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1650898G>A | CA8271049 | PRPF8 | c.6732C>T (p.Phe2244=) c.2660C>T c.*6635C>T (n.*6635C>T) n.3226C>T c.6765C>T (p.Phe2255=) c.6777C>T (p.Phe2259=) c.6912C>T (p.Phe2304=) c.163-52C>T n.901C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1650898G>C | CA252744 | PRPF8 | c.6732C>G (p.Phe2244Leu) c.2660C>G c.*6635C>G (n.*6635C>G) n.3226C>G c.6765C>G (p.Phe2255Leu) c.6777C>G (p.Phe2259Leu) c.6912C>G (p.Phe2304Leu) c.163-52C>G n.901C>G | ClinVar dbSNP |