| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101089846C>T | CA354081 | NALCN | c.3390G>A (p.Pro1130=) c.3111G>A (p.Pro1037=) c.3477G>A (p.Pro1159=) c.3303G>A (p.Pro1101=) c.3447G>A (p.Pro1149=) c.3360G>A (p.Pro1120=) c.3168G>A (p.Pro1056=) c.2943G>A (p.Pro981=) c.2625G>A (p.Pro875=) c.3534G>A (p.Pro1178=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.101089846C= | CA2114392236 | NALCN | c.3390G= (p.Pro1130=) c.3111G= (p.Pro1037=) c.3477G= (p.Pro1159=) c.3303G= (p.Pro1101=) c.3447G= (p.Pro1149=) c.3360G= (p.Pro1120=) c.3168G= (p.Pro1056=) c.2943G= (p.Pro981=) c.2625G= (p.Pro875=) c.3534G= (p.Pro1178=) | dbSNP |