| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.75914119C>T | CA254505 | MYO6 | c.3400C>T (p.Arg1134Ter) c.3496C>T (p.Arg1166Ter) c.3427C>T (p.Arg1143Ter) c.3523C>T (p.Arg1175Ter) c.*1507C>T (n.*1507C>T) n.1662C>T c.3526C>T (p.Arg1176Ter) c.3484C>T (p.Arg1162Ter) c.3469C>T (p.Arg1157Ter) c.3457C>T (p.Arg1153Ter) c.3430C>T (p.Arg1144Ter) c.3412C>T (p.Arg1138Ter) n.3725C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.75914119C= | CA3134742701 | MYO6 | c.3400C= (p.Arg1134=) c.3496C= (p.Arg1166=) c.3427C= (p.Arg1143=) c.3523C= (p.Arg1175=) c.*1507C= (n.*1507C=) n.1662C= c.3526C= (p.Arg1176=) c.3484C= (p.Arg1162=) c.3469C= (p.Arg1157=) c.3457C= (p.Arg1153=) c.3430C= (p.Arg1144=) c.3412C= (p.Arg1138=) n.3725C= | dbSNP |