| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.53995732G>C | CA376515460 | PCDH15 | c.2821C>G (p.Arg941Gly) c.2785C>G (p.Arg929Gly) c.2806C>G (p.Arg936Gly) c.1644C>G c.*740C>G (n.*740C>G) c.2800C>G (p.Arg934Gly) c.2674C>G (p.Arg892Gly) c.2719C>G (p.Arg907Gly) c.1306-186186C>G (n.1306-186186C>G) c.1099-186186C>G (n.1099-186186C>G) c.2091+83599C>G (n.2091+83599C>G) c.1618C>G (p.Arg540Gly) c.877-155236C>G (n.877-155236C>G) c.2572C>G (p.Arg858Gly) c.-24-138469C>G (n.-24-138469C>G) n.3798C>G | dbSNP gnomAD v4 |
| 10 | g.53995732G>A | CA16041367 | PCDH15 | c.2821C>T (p.Arg941Ter) c.2785C>T (p.Arg929Ter) c.2806C>T (p.Arg936Ter) c.1644C>T c.*740C>T (n.*740C>T) c.2800C>T (p.Arg934Ter) c.2674C>T (p.Arg892Ter) c.2719C>T (p.Arg907Ter) c.1306-186186C>T (n.1306-186186C>T) c.1099-186186C>T (n.1099-186186C>T) c.2091+83599C>T (n.2091+83599C>T) c.1618C>T (p.Arg540Ter) c.877-155236C>T (n.877-155236C>T) c.2572C>T (p.Arg858Ter) c.-24-138469C>T (n.-24-138469C>T) n.3798C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |