| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54153147G>A | CA469494169 | PCDH15 | c.1773C>T (p.Tyr591=) c.1737C>T (p.Tyr579=) c.1758C>T (p.Tyr586=) c.596C>T c.1752C>T (p.Tyr584=) c.1626C>T (p.Tyr542=) c.1671C>T (p.Tyr557=) c.1305+42536C>T (n.1305+42536C>T) c.1098+60789C>T (n.1098+60789C>T) c.570C>T (p.Tyr190=) c.876+164124C>T (n.876+164124C>T) c.-24-295884C>T (n.-24-295884C>T) n.2750C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.54153147G>C | CA5506283 | PCDH15 | c.1773C>G (p.Tyr591Ter) c.1737C>G (p.Tyr579Ter) c.1758C>G (p.Tyr586Ter) c.596C>G c.1752C>G (p.Tyr584Ter) c.1626C>G (p.Tyr542Ter) c.1671C>G (p.Tyr557Ter) c.1305+42536C>G (n.1305+42536C>G) c.1098+60789C>G (n.1098+60789C>G) c.570C>G (p.Tyr190Ter) c.876+164124C>G (n.876+164124C>G) c.-24-295884C>G (n.-24-295884C>G) n.2750C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |