| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154381082_154381086dup | CA273589 | EMD | c.572+78_572+82dup (n.572+78_572+82dup) n.762+78_762+82dup n.840_844dup c.650_654dup (p.Gln219TrpfsTer20) c.607_611dup (n.607_611dup) n.622_626dup c.568+78_568+82dup (n.568+78_568+82dup) c.545_549dup (p.Gln184TrpfsTer20) c.*555_*559dup (n.*555_*559dup) n.439_443dup n.1087_1091dup n.633_637dup c.656_660dup (p.Gln221TrpfsTer20) | ClinVar dbSNP |
| X | g.154381082_154381086del | CA2580612323 | EMD | c.572+78_572+82del (n.572+78_572+82del) n.762+78_762+82del n.840_844del c.650_654del (p.Leu217ProfsTer?) c.607_611del (n.607_611del) n.622_626del c.568+78_568+82del (n.568+78_568+82del) c.545_549del (p.Leu182ProfsTer?) c.*555_*559del (n.*555_*559del) n.439_443del n.1087_1091del n.633_637del c.656_660del (p.Leu219ProfsTer?) | ClinVar dbSNP |