| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197427547T>C | CA228002 | CRB1 | c.2222T>C (p.Met741Thr) c.1103T>C (p.Met368Thr) c.365T>C (p.Met122Thr) c.1886T>C (p.Met629Thr) n.123T>C c.2015T>C (p.Met672Thr) c.2128+5591T>C (n.2128+5591T>C) n.2223T>C n.2431T>C c.1640T>C (p.Met547Thr) c.665T>C (p.Met222Thr) c.1379T>C (p.Met460Thr) n.2175T>C n.2383T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.197427547T= | CA1140762938 | CRB1 | c.2222T= (p.Met741=) c.1103T= (p.Met368=) c.365T= (p.Met122=) c.1886T= (p.Met629=) n.123T= c.2015T= (p.Met672=) c.2128+5591T= (n.2128+5591T=) n.2223T= n.2431T= c.1640T= (p.Met547=) c.665T= (p.Met222=) c.1379T= (p.Met460=) n.2175T= n.2383T= | dbSNP |