| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90753705C>G | CA261831 | ADGRV1 | c.11253C>G (p.Tyr3751Ter) c.384C>G (p.Tyr128Ter) c.265+77496C>G (n.265+77496C>G) n.4397C>G n.1672C>G c.3950C>G n.11266C>G c.11250C>G (p.Tyr3750Ter) c.11172C>G (p.Tyr3724Ter) c.8556C>G (p.Tyr2852Ter) c.11274C>G (p.Tyr3758Ter) c.11271C>G (p.Tyr3757Ter) c.11193C>G (p.Tyr3731Ter) c.11178C>G (p.Tyr3726Ter) c.4392C>G (p.Tyr1464Ter) c.4371C>G (p.Tyr1457Ter) n.11269C>G | ClinVar dbSNP |
| 5 | g.90753705C>T | CA3340932 | ADGRV1 | c.11253C>T (p.Tyr3751=) c.384C>T (p.Tyr128=) c.265+77496C>T (n.265+77496C>T) n.4397C>T n.1672C>T c.3950C>T n.11266C>T c.11250C>T (p.Tyr3750=) c.11172C>T (p.Tyr3724=) c.8556C>T (p.Tyr2852=) c.11274C>T (p.Tyr3758=) c.11271C>T (p.Tyr3757=) c.11193C>T (p.Tyr3731=) c.11178C>T (p.Tyr3726=) c.4392C>T (p.Tyr1464=) c.4371C>T (p.Tyr1457=) n.11269C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |