| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.121017727G>A | CA5218023 | C5 | c.627C>T (p.Tyr209=) c.1952C>T n.1721C>T c.1650C>T (p.Tyr550=) n.510C>T c.*1622C>T (n.*1622C>T) n.2237C>T c.1632C>T (p.Tyr544=) c.1647C>T (p.Tyr549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.121017727G>T | CA374748998 | C5 | c.627C>A (p.Tyr209Ter) c.1952C>A n.1721C>A c.1650C>A (p.Tyr550Ter) n.510C>A c.*1622C>A (n.*1622C>A) n.2237C>A c.1632C>A (p.Tyr544Ter) c.1647C>A (p.Tyr549Ter) | dbSNP |
| 9 | g.121017727G= | CA1630847971 | C5 | c.627C= (p.Tyr209=) c.1952C= n.1721C= c.1650C= (p.Tyr550=) n.510C= c.*1622C= (n.*1622C=) n.2237C= c.1632C= (p.Tyr544=) c.1647C= (p.Tyr549=) | dbSNP |
| 9 | g.121017727G>C | CA374748996 | C5 | c.627C>G (p.Tyr209Ter) c.1952C>G n.1721C>G c.1650C>G (p.Tyr550Ter) n.510C>G c.*1622C>G (n.*1622C>G) n.2237C>G c.1632C>G (p.Tyr544Ter) c.1647C>G (p.Tyr549Ter) | dbSNP gnomAD v4 |