| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135778781G>C | CA16605455 | KCNT1 | c.2688G>C (p.Met896Ile) c.2529G>C (p.Met843Ile) c.2436G>C (p.Met812Ile) n.1222G>C c.2445G>C (p.Met815Ile) c.2589G>C (p.Met863Ile) c.*2298G>C (n.*2298G>C) c.2571G>C (p.Met857Ile) c.2631G>C (p.Met877Ile) c.2625G>C (p.Met875Ile) n.2507G>C c.2553G>C (p.Met851Ile) c.2523G>C (p.Met841Ile) c.554G>C (n.554G>C) c.2823G>C (p.Met941Ile) c.2832G>C (p.Met944Ile) c.2178G>C (p.Met726Ile) c.2622G>C (p.Met874Ile) | ClinVar dbSNP |
| 9 | g.135778781G>A | CA347129 | KCNT1 | c.2688G>A (p.Met896Ile) c.2529G>A (p.Met843Ile) c.2436G>A (p.Met812Ile) n.1222G>A c.2445G>A (p.Met815Ile) c.2589G>A (p.Met863Ile) c.*2298G>A (n.*2298G>A) c.2571G>A (p.Met857Ile) c.2631G>A (p.Met877Ile) c.2625G>A (p.Met875Ile) n.2507G>A c.2553G>A (p.Met851Ile) c.2523G>A (p.Met841Ile) c.554G>A (n.554G>A) c.2823G>A (p.Met941Ile) c.2832G>A (p.Met944Ile) c.2178G>A (p.Met726Ile) c.2622G>A (p.Met874Ile) | ClinVar dbSNP |
| 9 | g.135778781G= | CA1883873809 | KCNT1 | c.2688G= (p.Met896=) c.2529G= (p.Met843=) c.2436G= (p.Met812=) n.1222G= c.2445G= (p.Met815=) c.2589G= (p.Met863=) c.*2298G= (n.*2298G=) c.2571G= (p.Met857=) c.2631G= (p.Met877=) c.2625G= (p.Met875=) n.2507G= c.2553G= (p.Met851=) c.2523G= (p.Met841=) c.554G= (n.554G=) c.2823G= (p.Met941=) c.2832G= (p.Met944=) c.2178G= (p.Met726=) c.2622G= (p.Met874=) | dbSNP |