| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95458026G>A | CA161680 | PTCH1 | c.2957C>T (p.Thr986Met) c.3152C>T (p.Thr1051Met) c.*1463C>T (n.*1463C>T) c.2702C>T (p.Thr901Met) n.486C>T c.3155C>T (p.Thr1052Met) c.2924C>T (n.2924C>T) n.505C>T c.2999C>T (p.Thr1000Met) c.2315C>T (p.Thr772Met) n.3177C>T n.3894C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95458026G>T | CA374112272 | PTCH1 | c.2957C>A (p.Thr986Lys) c.3152C>A (p.Thr1051Lys) c.*1463C>A (n.*1463C>A) c.2702C>A (p.Thr901Lys) n.486C>A c.3155C>A (p.Thr1052Lys) c.2924C>A (n.2924C>A) n.505C>A c.2999C>A (p.Thr1000Lys) c.2315C>A (p.Thr772Lys) n.3177C>A n.3894C>A | ClinVar dbSNP |
| 9 | g.95458026G= | CA1865591240 | PTCH1 | c.2957C= (p.Thr986=) c.3152C= (p.Thr1051=) c.*1463C= (n.*1463C=) c.2702C= (p.Thr901=) n.486C= c.3155C= (p.Thr1052=) c.2924C= (n.2924C=) n.505C= c.2999C= (p.Thr1000=) c.2315C= (p.Thr772=) n.3177C= n.3894C= | dbSNP |