| 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 |
| 10 | g.54153147G>T | CA376519217 | PCDH15 | c.1773C>A (p.Tyr591Ter) c.1737C>A (p.Tyr579Ter) c.1758C>A (p.Tyr586Ter) c.596C>A c.1752C>A (p.Tyr584Ter) c.1626C>A (p.Tyr542Ter) c.1671C>A (p.Tyr557Ter) c.1305+42536C>A (n.1305+42536C>A) c.1098+60789C>A (n.1098+60789C>A) c.570C>A (p.Tyr190Ter) c.876+164124C>A (n.876+164124C>A) c.-24-295884C>A (n.-24-295884C>A) n.2750C>A | ClinVar dbSNP |
| 10 | g.54153147G= | CA1910915789 | PCDH15 | c.1773C= (p.Tyr591=) c.1737C= (p.Tyr579=) c.1758C= (p.Tyr586=) c.596C= c.1752C= (p.Tyr584=) c.1626C= (p.Tyr542=) c.1671C= (p.Tyr557=) c.1305+42536C= (n.1305+42536C=) c.1098+60789C= (n.1098+60789C=) c.570C= (p.Tyr190=) c.876+164124C= (n.876+164124C=) c.-24-295884C= (n.-24-295884C=) n.2750C= | dbSNP dbSNP |