Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49022332G>A | CA254200 | KMT2D | c.330C>T n.1032C>T n.1994C>T n.766C>T c.16408C>T (p.Arg5470Ter) c.331C>T (p.Arg111Ter) c.953C>T (p.Pro318Leu) c.1514C>T c.16369C>T (p.Arg5457Ter) c.361C>T (p.Arg121Ter) c.16357C>T (p.Arg5453Ter) c.16360C>T (p.Arg5454Ter) c.403C>T (p.Arg135Ter) c.16417C>T (p.Arg5473Ter) c.16414C>T (p.Arg5472Ter) c.16405C>T (p.Arg5469Ter) c.16396C>T (p.Arg5466Ter) c.16351C>T (p.Arg5451Ter) c.16324C>T (p.Arg5442Ter) n.16537C>T | ClinVar dbSNP COSMIC COSMIC |
12 | g.49022332G>C | CA384677027 | KMT2D | c.330C>G n.1032C>G n.1994C>G n.766C>G c.16408C>G (p.Arg5470Gly) c.331C>G (p.Arg111Gly) c.953C>G (p.Pro318Arg) c.1514C>G c.16369C>G (p.Arg5457Gly) c.361C>G (p.Arg121Gly) c.16357C>G (p.Arg5453Gly) c.16360C>G (p.Arg5454Gly) c.403C>G (p.Arg135Gly) c.16417C>G (p.Arg5473Gly) c.16414C>G (p.Arg5472Gly) c.16405C>G (p.Arg5469Gly) c.16396C>G (p.Arg5466Gly) c.16351C>G (p.Arg5451Gly) c.16324C>G (p.Arg5442Gly) n.16537C>G | dbSNP |
12 | g.49022332G>T | CA479521027 | KMT2D | c.330C>A n.1032C>A n.1994C>A n.766C>A c.16408C>A (p.Arg5470=) c.331C>A (p.Arg111=) c.953C>A (p.Pro318Gln) c.1514C>A c.16369C>A (p.Arg5457=) c.361C>A (p.Arg121=) c.16357C>A (p.Arg5453=) c.16360C>A (p.Arg5454=) c.403C>A (p.Arg135=) c.16417C>A (p.Arg5473=) c.16414C>A (p.Arg5472=) c.16405C>A (p.Arg5469=) c.16396C>A (p.Arg5466=) c.16351C>A (p.Arg5451=) c.16324C>A (p.Arg5442=) n.16537C>A | dbSNP |