Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.32217062G>A | CA273088 | DMD | c.1138C>T (p.Arg380Ter) c.6292C>T (p.Arg2098Ter) c.2260C>T (p.Arg754Ter) c.6280C>T (p.Arg2094Ter) n.337C>T c.6268C>T (p.Arg2090Ter) c.5923C>T (p.Arg1975Ter) c.2269C>T (p.Arg757Ter) c.6163C>T (p.Arg2055Ter) c.6154C>T (p.Arg2052Ter) c.6169C>T (p.Arg2057Ter) c.466C>T (p.Arg156Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.32217062G>C | CA328519368 | DMD | c.1138C>G (p.Arg380Gly) c.6292C>G (p.Arg2098Gly) c.2260C>G (p.Arg754Gly) c.6280C>G (p.Arg2094Gly) n.337C>G c.6268C>G (p.Arg2090Gly) c.5923C>G (p.Arg1975Gly) c.2269C>G (p.Arg757Gly) c.6163C>G (p.Arg2055Gly) c.6154C>G (p.Arg2052Gly) c.6169C>G (p.Arg2057Gly) c.466C>G (p.Arg156Gly) | dbSNP gnomAD v4 |