Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43430098C>A | CA809267 | SZT2 | c.4225C>A (p.Arg1409=) c.4396C>A (p.Arg1466=) n.257C>A c.4459C>A (p.Arg1487=) c.4513C>A (p.Arg1505=) c.4342C>A (p.Arg1448=) c.4339C>A (p.Arg1447=) c.3940C>A (p.Arg1314=) c.4288C>A (p.Arg1430=) c.3088C>A (p.Arg1030=) n.4542C>A n.4544C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43430098C>T | CA10602769 | SZT2 | c.4225C>T (p.Arg1409Ter) c.4396C>T (p.Arg1466Ter) n.257C>T c.4459C>T (p.Arg1487Ter) c.4513C>T (p.Arg1505Ter) c.4342C>T (p.Arg1448Ter) c.4339C>T (p.Arg1447Ter) c.3940C>T (p.Arg1314Ter) c.4288C>T (p.Arg1430Ter) c.3088C>T (p.Arg1030Ter) n.4542C>T n.4544C>T | ClinVar dbSNP gnomAD v4 |