| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101081552C>A | CA145297 | NALCN | c.3860G>T (p.Trp1287Leu) c.3581G>T (p.Trp1194Leu) c.3947G>T (p.Trp1316Leu) c.3773G>T (p.Trp1258Leu) c.3917G>T (p.Trp1306Leu) c.3830G>T (p.Trp1277Leu) c.3638G>T (p.Trp1213Leu) c.3413G>T (p.Trp1138Leu) c.3095G>T (p.Trp1032Leu) c.4004G>T (p.Trp1335Leu) | ClinVar dbSNP |
| 13 | g.101081552C>T | CA388650197 | NALCN | c.3860G>A (p.Trp1287Ter) c.3581G>A (p.Trp1194Ter) c.3947G>A (p.Trp1316Ter) c.3773G>A (p.Trp1258Ter) c.3917G>A (p.Trp1306Ter) c.3830G>A (p.Trp1277Ter) c.3638G>A (p.Trp1213Ter) c.3413G>A (p.Trp1138Ter) c.3095G>A (p.Trp1032Ter) c.4004G>A (p.Trp1335Ter) | dbSNP gnomAD v4 |
| 13 | g.101081552C= | CA2114388836 | NALCN | c.3860G= (p.Trp1287=) c.3581G= (p.Trp1194=) c.3947G= (p.Trp1316=) c.3773G= (p.Trp1258=) c.3917G= (p.Trp1306=) c.3830G= (p.Trp1277=) c.3638G= (p.Trp1213=) c.3413G= (p.Trp1138=) c.3095G= (p.Trp1032=) c.4004G= (p.Trp1335=) | dbSNP |