| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43423153C>T | CA144916 | SZT2 | c.2092C>T (p.Gln698Ter) n.823C>T c.2155C>T (p.Gln719Ter) c.2209C>T (p.Gln737Ter) c.2038C>T (p.Gln680Ter) c.2035C>T (p.Gln679Ter) c.1636C>T (p.Gln546Ter) c.1984C>T (p.Gln662Ter) c.784C>T (p.Gln262Ter) n.2238C>T n.2240C>T | ClinVar dbSNP |
| 1 | g.43423153C= | CA1144228778 | SZT2 | c.2092C= (p.Gln698=) n.823C= c.2155C= (p.Gln719=) c.2209C= (p.Gln737=) c.2038C= (p.Gln680=) c.2035C= (p.Gln679=) c.1636C= (p.Gln546=) c.1984C= (p.Gln662=) c.784C= (p.Gln262=) n.2238C= n.2240C= | dbSNP |
| 1 | g.43423153C>G | CA340011033 | SZT2 | c.2092C>G (p.Gln698Glu) n.823C>G c.2155C>G (p.Gln719Glu) c.2209C>G (p.Gln737Glu) c.2038C>G (p.Gln680Glu) c.2035C>G (p.Gln679Glu) c.1636C>G (p.Gln546Glu) c.1984C>G (p.Gln662Glu) c.784C>G (p.Gln262Glu) n.2238C>G n.2240C>G | dbSNP gnomAD v4 |