| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101083801T>G | CA10581442 | NALCN | c.3493A>C (p.Thr1165Pro) c.3214A>C (p.Thr1072Pro) c.3580A>C (p.Thr1194Pro) c.3406A>C (p.Thr1136Pro) c.3550A>C (p.Thr1184Pro) c.3463A>C (p.Thr1155Pro) c.3271A>C (p.Thr1091Pro) c.3046A>C (p.Thr1016Pro) c.2728A>C (p.Thr910Pro) c.3637A>C (p.Thr1213Pro) | ClinVar dbSNP |
| 13 | g.101083801T= | CA2114389792 | NALCN | c.3493A= (p.Thr1165=) c.3214A= (p.Thr1072=) c.3580A= (p.Thr1194=) c.3406A= (p.Thr1136=) c.3550A= (p.Thr1184=) c.3463A= (p.Thr1155=) c.3271A= (p.Thr1091=) c.3046A= (p.Thr1016=) c.2728A= (p.Thr910=) c.3637A= (p.Thr1213=) | dbSNP |