| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101083752C>T | CA212642 | NALCN | c.3542G>A (p.Arg1181Gln) c.3263G>A (p.Arg1088Gln) c.3629G>A (p.Arg1210Gln) c.3455G>A (p.Arg1152Gln) c.3599G>A (p.Arg1200Gln) c.3512G>A (p.Arg1171Gln) c.3320G>A (p.Arg1107Gln) c.3095G>A (p.Arg1032Gln) c.2777G>A (p.Arg926Gln) c.3686G>A (p.Arg1229Gln) | ClinVar dbSNP gnomAD v4 |
| 13 | g.101083752C= | CA2114389780 | NALCN | c.3542G= (p.Arg1181=) c.3263G= (p.Arg1088=) c.3629G= (p.Arg1210=) c.3455G= (p.Arg1152=) c.3599G= (p.Arg1200=) c.3512G= (p.Arg1171=) c.3320G= (p.Arg1107=) c.3095G= (p.Arg1032=) c.2777G= (p.Arg926=) c.3686G= (p.Arg1229=) | dbSNP |