| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94322006C>T | CA115499 | NOC3L,PLCE1 | c.5524C>T (p.Arg1842Ter) n.3847C>T c.*2991C>T (n.*2991C>T) n.3183C>T n.1867C>T c.*1732C>T (n.*1732C>T) c.5476C>T (p.Arg1826Ter) n.10656C>T n.4121C>T c.6316C>T (p.Arg2106Ter) c.6400C>T (p.Arg2134Ter) c.6448C>T (p.Arg2150Ter) c.5422C>T (p.Arg1808Ter) c.5003C>T c.4564C>T (p.Arg1522Ter) c.*2381C>T (n.*2381C>T) c.5717C>T c.6490C>T (p.Arg2164Ter) c.6487C>T (p.Arg2163Ter) c.6442C>T (p.Arg2148Ter) c.5566C>T (p.Arg1856Ter) c.5335C>T (p.Arg1779Ter) n.3311-6542G>A n.3312-6542G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 10 | g.94322006C>G | CA377648434 | NOC3L,PLCE1 | c.5524C>G (p.Arg1842Gly) n.3847C>G c.*2991C>G (n.*2991C>G) n.3183C>G n.1867C>G c.*1732C>G (n.*1732C>G) c.5476C>G (p.Arg1826Gly) n.10656C>G n.4121C>G c.6316C>G (p.Arg2106Gly) c.6400C>G (p.Arg2134Gly) c.6448C>G (p.Arg2150Gly) c.5422C>G (p.Arg1808Gly) c.5003C>G c.4564C>G (p.Arg1522Gly) c.*2381C>G (n.*2381C>G) c.5717C>G c.6490C>G (p.Arg2164Gly) c.6487C>G (p.Arg2163Gly) c.6442C>G (p.Arg2148Gly) c.5566C>G (p.Arg1856Gly) c.5335C>G (p.Arg1779Gly) n.3311-6542G>C n.3312-6542G>C | dbSNP gnomAD v4 |
| 10 | g.94322006C= | CA1929017043 | NOC3L,PLCE1 | c.5524C= (p.Arg1842=) n.3847C= c.*2991C= (n.*2991C=) n.3183C= n.1867C= c.*1732C= (n.*1732C=) c.5476C= (p.Arg1826=) n.10656C= n.4121C= c.6316C= (p.Arg2106=) c.6400C= (p.Arg2134=) c.6448C= (p.Arg2150=) c.5422C= (p.Arg1808=) c.5003C= c.4564C= (p.Arg1522=) c.*2381C= (n.*2381C=) c.5717C= c.6490C= (p.Arg2164=) c.6487C= (p.Arg2163=) c.6442C= (p.Arg2148=) c.5566C= (p.Arg1856=) c.5335C= (p.Arg1779=) n.3311-6542G= n.3312-6542G= | dbSNP |