Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49034067C>T | CA221981 | KMT2D | c.10740G>A (p.Gln3580=) c.10749G>A (p.Gln3583=) c.300G>A (p.Gln100=) c.2319G>A (p.Gln773=) c.10737G>A (p.Gln3579=) c.2219G>A (n.2219G>A) c.10746G>A (p.Gln3582=) c.10728G>A (p.Gln3576=) c.10656G>A (p.Gln3552=) n.13069G>A n.12058G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49034067C>G | CA384726811 | KMT2D | c.10740G>C (p.Gln3580His) c.10749G>C (p.Gln3583His) c.300G>C (p.Gln100His) c.2319G>C (p.Gln773His) c.10737G>C (p.Gln3579His) c.2219G>C (n.2219G>C) c.10746G>C (p.Gln3582His) c.10728G>C (p.Gln3576His) c.10656G>C (p.Gln3552His) n.13069G>C n.12058G>C | dbSNP |
12 | g.49034067C>A | CA384726806 | KMT2D | c.10740G>T (p.Gln3580His) c.10749G>T (p.Gln3583His) c.300G>T (p.Gln100His) c.2319G>T (p.Gln773His) c.10737G>T (p.Gln3579His) c.2219G>T (n.2219G>T) c.10746G>T (p.Gln3582His) c.10728G>T (p.Gln3576His) c.10656G>T (p.Gln3552His) n.13069G>T n.12058G>T | ClinVar dbSNP |