Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.31627852G>T | CA515858966 | DMD | c.2884C>A (p.Arg962=) c.658C>A (p.Arg220=) n.1503C>A n.1699C>A n.1530C>A c.8038C>A (p.Arg2680=) c.4006C>A (p.Arg1336=) c.1126C>A (p.Arg376=) c.8026C>A (p.Arg2676=) c.8023C>A (p.Arg2675=) c.8035C>A (p.Arg2679=) c.8014C>A (p.Arg2672=) c.7669C>A (p.Arg2557=) c.4015C>A (p.Arg1339=) c.7909C>A (p.Arg2637=) c.7900C>A (p.Arg2634=) c.7915C>A (p.Arg2639=) c.2212C>A (p.Arg738=) | ClinVar dbSNP |
X | g.31627852G>A | CA347572 | DMD | c.2884C>T (p.Arg962Ter) c.658C>T (p.Arg220Ter) n.1503C>T n.1699C>T n.1530C>T c.8038C>T (p.Arg2680Ter) c.4006C>T (p.Arg1336Ter) c.1126C>T (p.Arg376Ter) c.8026C>T (p.Arg2676Ter) c.8023C>T (p.Arg2675Ter) c.8035C>T (p.Arg2679Ter) c.8014C>T (p.Arg2672Ter) c.7669C>T (p.Arg2557Ter) c.4015C>T (p.Arg1339Ter) c.7909C>T (p.Arg2637Ter) c.7900C>T (p.Arg2634Ter) c.7915C>T (p.Arg2639Ter) c.2212C>T (p.Arg738Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31627852G>C | CA412657434 | DMD | c.2884C>G (p.Arg962Gly) c.658C>G (p.Arg220Gly) n.1503C>G n.1699C>G n.1530C>G c.8038C>G (p.Arg2680Gly) c.4006C>G (p.Arg1336Gly) c.1126C>G (p.Arg376Gly) c.8026C>G (p.Arg2676Gly) c.8023C>G (p.Arg2675Gly) c.8035C>G (p.Arg2679Gly) c.8014C>G (p.Arg2672Gly) c.7669C>G (p.Arg2557Gly) c.4015C>G (p.Arg1339Gly) c.7909C>G (p.Arg2637Gly) c.7900C>G (p.Arg2634Gly) c.7915C>G (p.Arg2639Gly) c.2212C>G (p.Arg738Gly) | dbSNP gnomAD v2 gnomAD v4 |