| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43439025C>T | CA809986 | SZT2 | c.6553C>T (p.Arg2185Trp) c.6724C>T (p.Arg2242Trp) n.3178C>T n.1474C>T n.387C>T c.6787C>T (p.Arg2263Trp) c.6841C>T (p.Arg2281Trp) c.6670C>T (p.Arg2224Trp) c.6667C>T (p.Arg2223Trp) c.6268C>T (p.Arg2090Trp) c.6634C>T (p.Arg2212Trp) c.6616C>T (p.Arg2206Trp) c.5416C>T (p.Arg1806Trp) n.6870C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43439025C>G | CA340031897 | SZT2 | c.6553C>G (p.Arg2185Gly) c.6724C>G (p.Arg2242Gly) n.3178C>G n.1474C>G n.387C>G c.6787C>G (p.Arg2263Gly) c.6841C>G (p.Arg2281Gly) c.6670C>G (p.Arg2224Gly) c.6667C>G (p.Arg2223Gly) c.6268C>G (p.Arg2090Gly) c.6634C>G (p.Arg2212Gly) c.6616C>G (p.Arg2206Gly) c.5416C>G (p.Arg1806Gly) n.6870C>G | dbSNP gnomAD v4 |
| 1 | g.43439025C= | CA1165617201 | SZT2 | c.6553C= (p.Arg2185=) c.6724C= (p.Arg2242=) n.3178C= n.1474C= n.387C= c.6787C= (p.Arg2263=) c.6841C= (p.Arg2281=) c.6670C= (p.Arg2224=) c.6667C= (p.Arg2223=) c.6268C= (p.Arg2090=) c.6634C= (p.Arg2212=) c.6616C= (p.Arg2206=) c.5416C= (p.Arg1806=) n.6870C= | dbSNP |