| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53195918G>T | CA10419283 | KDM5C | c.3118C>A (p.Gln1040Lys) c.3115C>A (p.Gln1039Lys) c.2623C>A (p.Gln875Lys) c.2995C>A (p.Gln999Lys) c.2917C>A (p.Gln973Lys) c.2134C>A (p.Gln712Lys) n.3464C>A n.3651C>A n.3648C>A n.3528C>A n.3444C>A n.3436C>A n.3433C>A n.3313C>A | dbSNP ExAC gnomAD v4 |
| X | g.53195918G>A | CA207549 | KDM5C | c.3118C>T (p.Gln1040Ter) c.3115C>T (p.Gln1039Ter) c.2623C>T (p.Gln875Ter) c.2995C>T (p.Gln999Ter) c.2917C>T (p.Gln973Ter) c.2134C>T (p.Gln712Ter) n.3464C>T n.3651C>T n.3648C>T n.3528C>T n.3444C>T n.3436C>T n.3433C>T n.3313C>T | ClinVar dbSNP |
| X | g.53195918G>C | CA413111046 | KDM5C | c.3118C>G (p.Gln1040Glu) c.3115C>G (p.Gln1039Glu) c.2623C>G (p.Gln875Glu) c.2995C>G (p.Gln999Glu) c.2917C>G (p.Gln973Glu) c.2134C>G (p.Gln712Glu) n.3464C>G n.3651C>G n.3648C>G n.3528C>G n.3444C>G n.3436C>G n.3433C>G n.3313C>G | dbSNP |
| X | g.53195918G= | CA2429757685 | KDM5C | c.3118C= (p.Gln1040=) c.3115C= (p.Gln1039=) c.2623C= (p.Gln875=) c.2995C= (p.Gln999=) c.2917C= (p.Gln973=) c.2134C= (p.Gln712=) n.3464C= n.3651C= n.3648C= n.3528C= n.3444C= n.3436C= n.3433C= n.3313C= | dbSNP |