| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94259072C>T | CA115503 | PLCE1 | c.2812C>T (p.Arg938Ter) c.*279C>T (n.*279C>T) n.471C>T c.3736C>T (p.Arg1246Ter) c.2764C>T (p.Arg922Ter) n.4066C>T c.3688C>T (p.Arg1230Ter) c.2710C>T (p.Arg904Ter) c.2141C>T c.1813C>T (p.Arg605Ter) c.2963C>T c.2581C>T (p.Arg861Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.94259072C>G | CA377644862 | PLCE1 | c.2812C>G (p.Arg938Gly) c.*279C>G (n.*279C>G) n.471C>G c.3736C>G (p.Arg1246Gly) c.2764C>G (p.Arg922Gly) n.4066C>G c.3688C>G (p.Arg1230Gly) c.2710C>G (p.Arg904Gly) c.2141C>G c.1813C>G (p.Arg605Gly) c.2963C>G c.2581C>G (p.Arg861Gly) | dbSNP |
| 10 | g.94259072C>A | CA5612968 | PLCE1 | c.2812C>A (p.Arg938=) c.*279C>A (n.*279C>A) n.471C>A c.3736C>A (p.Arg1246=) c.2764C>A (p.Arg922=) n.4066C>A c.3688C>A (p.Arg1230=) c.2710C>A (p.Arg904=) c.2141C>A c.1813C>A (p.Arg605=) c.2963C>A c.2581C>A (p.Arg861=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |