| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34236022dup | CA16041714 | SLC12A6 | c.3220dup (p.Met1074AsnfsTer23) c.3067dup (p.Met1023AsnfsTer23) c.3043dup (p.Met1015AsnfsTer23) c.3175dup (p.Met1059AsnfsTer23) c.3193dup (p.Met1065AsnfsTer23) c.*243dup (n.*243dup) c.*429dup (n.*429dup) c.2656dup (p.Met886AsnfsTer23) c.*458dup (n.*458dup) c.3073dup (p.Met1025AsnfsTer23) n.3226dup n.4499dup | ClinVar dbSNP gnomAD v4 |
| 15 | g.34236022T= | CA3212250289 | SLC12A6 | c.3220A= (p.Met1074=) c.3067A= (p.Met1023=) c.3043A= (p.Met1015=) c.3175A= (p.Met1059=) c.3193A= (p.Met1065=) c.*243A= (n.*243A=) c.*429A= (n.*429A=) c.2656A= (p.Met886=) c.*458A= (n.*458A=) c.3073A= (p.Met1025=) n.3226A= n.4499A= | dbSNP dbSNP |