Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.94464203dup | CA194116 | MRE11 | c.1135dup (p.Leu379ProfsTer4) c.1144dup (p.Leu382ProfsTer4) c.667dup (p.Leu223ProfsTer4) n.1431dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.94464203G= | CA3182867969 | MRE11 | c.1135C= (p.Leu379=) c.1144C= (p.Leu382=) c.667C= (p.Leu223=) n.1431C= | dbSNP |