| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68293790C>A | CA444488680 | PIK3R1 | c.481C>A (p.Arg161=) c.571C>A (p.Arg191=) c.1381C>A (p.Arg461=) c.*351C>A (n.*351C>A) c.1306C>A (p.Arg436=) c.856C>A (p.Arg286=) n.1022C>A c.*347C>A (n.*347C>A) c.418C>A (p.Arg140=) c.388C>A (p.Arg130=) c.292C>A (p.Arg98=) c.364C>A (p.Arg122=) c.73C>A (p.Arg25=) n.1924C>A c.400C>A (p.Arg134=) n.780C>A c.1054C>A (p.Arg352=) c.1108C>A (p.Arg370=) | dbSNP gnomAD v4 |
| 5 | g.68293790C>G | CA359880343 | PIK3R1 | c.481C>G (p.Arg161Gly) c.571C>G (p.Arg191Gly) c.1381C>G (p.Arg461Gly) c.*351C>G (n.*351C>G) c.1306C>G (p.Arg436Gly) c.856C>G (p.Arg286Gly) n.1022C>G c.*347C>G (n.*347C>G) c.418C>G (p.Arg140Gly) c.388C>G (p.Arg130Gly) c.292C>G (p.Arg98Gly) c.364C>G (p.Arg122Gly) c.73C>G (p.Arg25Gly) n.1924C>G c.400C>G (p.Arg134Gly) n.780C>G c.1054C>G (p.Arg352Gly) c.1108C>G (p.Arg370Gly) | dbSNP |
| 5 | g.68293790C>T | CA16602707 | PIK3R1 | c.481C>T (p.Arg161Ter) c.571C>T (p.Arg191Ter) c.1381C>T (p.Arg461Ter) c.*351C>T (n.*351C>T) c.1306C>T (p.Arg436Ter) c.856C>T (p.Arg286Ter) n.1022C>T c.*347C>T (n.*347C>T) c.418C>T (p.Arg140Ter) c.388C>T (p.Arg130Ter) c.292C>T (p.Arg98Ter) c.364C>T (p.Arg122Ter) c.73C>T (p.Arg25Ter) n.1924C>T c.400C>T (p.Arg134Ter) n.780C>T c.1054C>T (p.Arg352Ter) c.1108C>T (p.Arg370Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |