| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101103179A>G | CA10581443 | NALCN | c.3050T>C (p.Ile1017Thr) c.2771T>C (p.Ile924Thr) c.3137T>C (p.Ile1046Thr) c.2963T>C (p.Ile988Thr) c.3107T>C (p.Ile1036Thr) c.3020T>C (p.Ile1007Thr) c.2828T>C (p.Ile943Thr) c.2603T>C (p.Ile868Thr) c.2285T>C (p.Ile762Thr) c.3194T>C (p.Ile1065Thr) | ClinVar dbSNP |
| 13 | g.101103179A>C | CA388669129 | NALCN | c.3050T>G (p.Ile1017Ser) c.2771T>G (p.Ile924Ser) c.3137T>G (p.Ile1046Ser) c.2963T>G (p.Ile988Ser) c.3107T>G (p.Ile1036Ser) c.3020T>G (p.Ile1007Ser) c.2828T>G (p.Ile943Ser) c.2603T>G (p.Ile868Ser) c.2285T>G (p.Ile762Ser) c.3194T>G (p.Ile1065Ser) | ClinVar dbSNP |
| 13 | g.101103179A= | CA2114398031 | NALCN | c.3050T= (p.Ile1017=) c.2771T= (p.Ile924=) c.3137T= (p.Ile1046=) c.2963T= (p.Ile988=) c.3107T= (p.Ile1036=) c.3020T= (p.Ile1007=) c.2828T= (p.Ile943=) c.2603T= (p.Ile868=) c.2285T= (p.Ile762=) c.3194T= (p.Ile1065=) | dbSNP |