Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7583660dup | CA303945 | DSP | c.5069dup (p.Val1691CysfsTer22) c.6398dup (p.Val2134CysfsTer22) c.4601dup (p.Val1535CysfsTer22) | ClinVar dbSNP |
6 | g.7583660del | CA1085708089 | DSP | c.5069del (p.Gly1690ValfsTer2) c.6398del (p.Gly2133ValfsTer2) c.4601del (p.Gly1534ValfsTer2) | dbSNP gnomAD v3 gnomAD v4 |