| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31478233C>T | CA179720 | DMD | c.3656G>A (p.Arg1219Gln) c.1430G>A (p.Arg477Gln) n.2275G>A n.2302G>A c.665G>A (p.Arg222Gln) c.8810G>A (p.Arg2937Gln) c.4778G>A (p.Arg1593Gln) n.2471G>A c.623G>A (p.Arg208Gln) c.1898G>A (p.Arg633Gln) c.8798G>A (p.Arg2933Gln) c.8795G>A (p.Arg2932Gln) c.8807G>A (p.Arg2936Gln) c.8786G>A (p.Arg2929Gln) c.8681G>A (p.Arg2894Gln) c.8672G>A (p.Arg2891Gln) c.8687G>A (p.Arg2896Gln) c.2984G>A (p.Arg995Gln) c.4787G>A (p.Arg1596Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31478233C= | CA290622 | DMD | c.3656G= (p.Arg1219=) c.1430G= (p.Arg477=) n.2275G= n.2302G= c.665G= (p.Arg222=) c.8810G= (p.Arg2937=) c.4778G= (p.Arg1593=) n.2471G= c.623G= (p.Arg208=) c.1898G= (p.Arg633=) c.8798G= (p.Arg2933=) c.8795G= (p.Arg2932=) c.8807G= (p.Arg2936=) c.8786G= (p.Arg2929=) c.8681G= (p.Arg2894=) c.8672G= (p.Arg2891=) c.8687G= (p.Arg2896=) c.2984G= (p.Arg995=) c.4787G= (p.Arg1596=) | dbSNP |