| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161294312G>A | CA3543342 | GABRB2 | c.1308C>T (p.Ala436=) c.*653C>T (n.*653C>T) c.1194C>T (p.Ala398=) c.942C>T (p.Ala314=) c.444C>T (p.Ala148=) c.714C>T (p.Ala238=) c.1005C>T (p.Ala335=) c.558C>T (p.Ala186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294312G>T | CA447604758 | GABRB2 | c.1308C>A (p.Ala436=) c.*653C>A (n.*653C>A) c.1194C>A (p.Ala398=) c.942C>A (p.Ala314=) c.444C>A (p.Ala148=) c.714C>A (p.Ala238=) c.1005C>A (p.Ala335=) c.558C>A (p.Ala186=) | dbSNP |
| 5 | g.161294312G>C | CA447604757 | GABRB2 | c.1308C>G (p.Ala436=) c.*653C>G (n.*653C>G) c.1194C>G (p.Ala398=) c.942C>G (p.Ala314=) c.444C>G (p.Ala148=) c.714C>G (p.Ala238=) c.1005C>G (p.Ala335=) c.558C>G (p.Ala186=) | dbSNP |
| 5 | g.161294312G= | CA1595966930 | GABRB2 | c.1308C= (p.Ala436=) c.*653C= (n.*653C=) c.1194C= (p.Ala398=) c.942C= (p.Ala314=) c.444C= (p.Ala148=) c.714C= (p.Ala238=) c.1005C= (p.Ala335=) c.558C= (p.Ala186=) | dbSNP |