| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11023590C>T | CA404057617 | SMARCA4 | c.2932C>T (p.Arg978Ter) c.2923C>T (p.Arg975Ter) c.2805C>T n.1263C>T c.1417C>T (p.Arg473Ter) c.293C>T c.1489C>T (p.Arg497Ter) c.1217C>T c.1287C>T c.2346C>T c.1659C>T n.1287C>T c.1189C>T c.1703C>T c.1577C>T c.1420C>T (p.Arg474Ter) c.796C>T (p.Arg266Ter) c.1278C>T c.415C>T (p.Arg139Ter) c.766C>T (p.Arg256Ter) c.780C>T (n.780C>T) c.1232C>T c.1285C>T (p.Arg429Ter) c.3124C>T (p.Arg1042Ter) n.1460C>T n.2806C>T n.1004C>T n.845C>T n.3222C>T | ClinVar dbSNP COSMIC COSMIC |
| 19 | g.11023590C>G | CA16620732 | SMARCA4 | c.2932C>G (p.Arg978Gly) c.2923C>G (p.Arg975Gly) c.2805C>G n.1263C>G c.1417C>G (p.Arg473Gly) c.293C>G c.1489C>G (p.Arg497Gly) c.1217C>G c.1287C>G c.2346C>G c.1659C>G n.1287C>G c.1189C>G c.1703C>G c.1577C>G c.1420C>G (p.Arg474Gly) c.796C>G (p.Arg266Gly) c.1278C>G c.415C>G (p.Arg139Gly) c.766C>G (p.Arg256Gly) c.780C>G (n.780C>G) c.1232C>G c.1285C>G (p.Arg429Gly) c.3124C>G (p.Arg1042Gly) n.1460C>G n.2806C>G n.1004C>G n.845C>G n.3222C>G | ClinVar dbSNP |
| 19 | g.11023590C>A | CA505490440 | SMARCA4 | c.2932C>A (p.Arg978=) c.2923C>A (p.Arg975=) c.2805C>A n.1263C>A c.1417C>A (p.Arg473=) c.293C>A c.1489C>A (p.Arg497=) c.1217C>A c.1287C>A c.2346C>A c.1659C>A n.1287C>A c.1189C>A c.1703C>A c.1577C>A c.1420C>A (p.Arg474=) c.796C>A (p.Arg266=) c.1278C>A c.415C>A (p.Arg139=) c.766C>A (p.Arg256=) c.780C>A (n.780C>A) c.1232C>A c.1285C>A (p.Arg429=) c.3124C>A (p.Arg1042=) n.1460C>A n.2806C>A n.1004C>A n.845C>A n.3222C>A | dbSNP gnomAD v2 |