| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161334830G>A | CA362171638 | GABRB2 | c.754C>T (p.Pro252Ser) n.836C>T c.*213C>T (n.*213C>T) c.502C>T (p.Pro168Ser) c.4C>T (p.Pro2Ser) c.274C>T (p.Pro92Ser) c.565C>T (p.Pro189Ser) | ClinVar dbSNP |
| 5 | g.161334830G>T | CA362171639 | GABRB2 | c.754C>A (p.Pro252Thr) n.836C>A c.*213C>A (n.*213C>A) c.502C>A (p.Pro168Thr) c.4C>A (p.Pro2Thr) c.274C>A (p.Pro92Thr) c.565C>A (p.Pro189Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161334830G>C | CA357915 | GABRB2 | c.754C>G (p.Pro252Ala) n.836C>G c.*213C>G (n.*213C>G) c.502C>G (p.Pro168Ala) c.4C>G (p.Pro2Ala) c.274C>G (p.Pro92Ala) c.565C>G (p.Pro189Ala) | ClinVar dbSNP |