UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135784732_135784737dup | CA2692521817 | KCNT1 | c.3028-29_3028-24dup (n.3028-29_3028-24dup) c.2869-29_2869-24dup (n.2869-29_2869-24dup) c.2776-29_2776-24dup (n.2776-29_2776-24dup) c.2785-29_2785-24dup (n.2785-29_2785-24dup) c.2929-29_2929-24dup (n.2929-29_2929-24dup) c.*2638-29_*2638-24dup (n.*2638-29_*2638-24dup) c.2911-29_2911-24dup (n.2911-29_2911-24dup) c.2971-29_2971-24dup (n.2971-29_2971-24dup) c.2965-29_2965-24dup (n.2965-29_2965-24dup) n.2847-29_2847-24dup c.2893-29_2893-24dup (n.2893-29_2893-24dup) c.2863-29_2863-24dup (n.2863-29_2863-24dup) c.894-29_894-24dup (n.894-29_894-24dup) c.3163-29_3163-24dup (n.3163-29_3163-24dup) c.3172-29_3172-24dup (n.3172-29_3172-24dup) c.2518-29_2518-24dup (n.2518-29_2518-24dup) c.2962-29_2962-24dup (n.2962-29_2962-24dup) | gnomAD v4 |
| 9 | g.135784736C= | CA1883884178 | KCNT1 | c.3028-25C= (n.3028-25C=) c.2869-25C= (n.2869-25C=) c.2776-25C= (n.2776-25C=) c.2785-25C= (n.2785-25C=) c.2929-25C= (n.2929-25C=) c.*2638-25C= (n.*2638-25C=) c.2911-25C= (n.2911-25C=) c.2971-25C= (n.2971-25C=) c.2965-25C= (n.2965-25C=) n.2847-25C= c.2893-25C= (n.2893-25C=) c.2863-25C= (n.2863-25C=) c.894-25C= (n.894-25C=) c.3163-25C= (n.3163-25C=) c.3172-25C= (n.3172-25C=) c.2518-25C= (n.2518-25C=) c.2962-25C= (n.2962-25C=) | |
| 9 | g.135784736C>T | CA591364513 | KCNT1 | c.3028-25C>T (n.3028-25C>T) c.2869-25C>T (n.2869-25C>T) c.2776-25C>T (n.2776-25C>T) c.2785-25C>T (n.2785-25C>T) c.2929-25C>T (n.2929-25C>T) c.*2638-25C>T (n.*2638-25C>T) c.2911-25C>T (n.2911-25C>T) c.2971-25C>T (n.2971-25C>T) c.2965-25C>T (n.2965-25C>T) n.2847-25C>T c.2893-25C>T (n.2893-25C>T) c.2863-25C>T (n.2863-25C>T) c.894-25C>T (n.894-25C>T) c.3163-25C>T (n.3163-25C>T) c.3172-25C>T (n.3172-25C>T) c.2518-25C>T (n.2518-25C>T) c.2962-25C>T (n.2962-25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784738_135784755dup | CA2692521823 | KCNT1 | c.3028-23_3028-6dup (n.3028-23_3028-6dup) c.2869-23_2869-6dup (n.2869-23_2869-6dup) c.2776-23_2776-6dup (n.2776-23_2776-6dup) c.2785-23_2785-6dup (n.2785-23_2785-6dup) c.2929-23_2929-6dup (n.2929-23_2929-6dup) c.*2638-23_*2638-6dup (n.*2638-23_*2638-6dup) c.2911-23_2911-6dup (n.2911-23_2911-6dup) c.2971-23_2971-6dup (n.2971-23_2971-6dup) c.2965-23_2965-6dup (n.2965-23_2965-6dup) n.2847-23_2847-6dup c.2893-23_2893-6dup (n.2893-23_2893-6dup) c.2863-23_2863-6dup (n.2863-23_2863-6dup) c.894-23_894-6dup (n.894-23_894-6dup) c.3163-23_3163-6dup (n.3163-23_3163-6dup) c.3172-23_3172-6dup (n.3172-23_3172-6dup) c.2518-23_2518-6dup (n.2518-23_2518-6dup) c.2962-23_2962-6dup (n.2962-23_2962-6dup) | gnomAD v4 |
| 9 | g.135784739A>G | CA2692521825 | KCNT1 | c.3028-22A>G (n.3028-22A>G) c.2869-22A>G (n.2869-22A>G) c.2776-22A>G (n.2776-22A>G) c.2785-22A>G (n.2785-22A>G) c.2929-22A>G (n.2929-22A>G) c.*2638-22A>G (n.*2638-22A>G) c.2911-22A>G (n.2911-22A>G) c.2971-22A>G (n.2971-22A>G) c.2965-22A>G (n.2965-22A>G) n.2847-22A>G c.2893-22A>G (n.2893-22A>G) c.2863-22A>G (n.2863-22A>G) c.894-22A>G (n.894-22A>G) c.3163-22A>G (n.3163-22A>G) c.3172-22A>G (n.3172-22A>G) c.2518-22A>G (n.2518-22A>G) c.2962-22A>G (n.2962-22A>G) | gnomAD v4 |
| 9 | g.135784740C>A | CA2692521826 | KCNT1 | c.3028-21C>A (n.3028-21C>A) c.2869-21C>A (n.2869-21C>A) c.2776-21C>A (n.2776-21C>A) c.2785-21C>A (n.2785-21C>A) c.2929-21C>A (n.2929-21C>A) c.*2638-21C>A (n.*2638-21C>A) c.2911-21C>A (n.2911-21C>A) c.2971-21C>A (n.2971-21C>A) c.2965-21C>A (n.2965-21C>A) n.2847-21C>A c.2893-21C>A (n.2893-21C>A) c.2863-21C>A (n.2863-21C>A) c.894-21C>A (n.894-21C>A) c.3163-21C>A (n.3163-21C>A) c.3172-21C>A (n.3172-21C>A) c.2518-21C>A (n.2518-21C>A) c.2962-21C>A (n.2962-21C>A) | gnomAD v4 |
| 9 | g.135784742C>A | CA2692521827 | KCNT1 | c.3028-19C>A (n.3028-19C>A) c.2869-19C>A (n.2869-19C>A) c.2776-19C>A (n.2776-19C>A) c.2785-19C>A (n.2785-19C>A) c.2929-19C>A (n.2929-19C>A) c.*2638-19C>A (n.*2638-19C>A) c.2911-19C>A (n.2911-19C>A) c.2971-19C>A (n.2971-19C>A) c.2965-19C>A (n.2965-19C>A) n.2847-19C>A c.2893-19C>A (n.2893-19C>A) c.2863-19C>A (n.2863-19C>A) c.894-19C>A (n.894-19C>A) c.3163-19C>A (n.3163-19C>A) c.3172-19C>A (n.3172-19C>A) c.2518-19C>A (n.2518-19C>A) c.2962-19C>A (n.2962-19C>A) | gnomAD v4 |
| 9 | g.135784743A= | CA1883884179 | KCNT1 | c.3028-18A= (n.3028-18A=) c.2869-18A= (n.2869-18A=) c.2776-18A= (n.2776-18A=) c.2785-18A= (n.2785-18A=) c.2929-18A= (n.2929-18A=) c.*2638-18A= (n.*2638-18A=) c.2911-18A= (n.2911-18A=) c.2971-18A= (n.2971-18A=) c.2965-18A= (n.2965-18A=) n.2847-18A= c.2893-18A= (n.2893-18A=) c.2863-18A= (n.2863-18A=) c.894-18A= (n.894-18A=) c.3163-18A= (n.3163-18A=) c.3172-18A= (n.3172-18A=) c.2518-18A= (n.2518-18A=) c.2962-18A= (n.2962-18A=) | |
| 9 | g.135784743A>C | CA591364514 | KCNT1 | c.3028-18A>C (n.3028-18A>C) c.2869-18A>C (n.2869-18A>C) c.2776-18A>C (n.2776-18A>C) c.2785-18A>C (n.2785-18A>C) c.2929-18A>C (n.2929-18A>C) c.*2638-18A>C (n.*2638-18A>C) c.2911-18A>C (n.2911-18A>C) c.2971-18A>C (n.2971-18A>C) c.2965-18A>C (n.2965-18A>C) n.2847-18A>C c.2893-18A>C (n.2893-18A>C) c.2863-18A>C (n.2863-18A>C) c.894-18A>C (n.894-18A>C) c.3163-18A>C (n.3163-18A>C) c.3172-18A>C (n.3172-18A>C) c.2518-18A>C (n.2518-18A>C) c.2962-18A>C (n.2962-18A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135784745G>A | CA591364515 | KCNT1 | c.3028-16G>A (n.3028-16G>A) c.2869-16G>A (n.2869-16G>A) c.2776-16G>A (n.2776-16G>A) c.2785-16G>A (n.2785-16G>A) c.2929-16G>A (n.2929-16G>A) c.*2638-16G>A (n.*2638-16G>A) c.2911-16G>A (n.2911-16G>A) c.2971-16G>A (n.2971-16G>A) c.2965-16G>A (n.2965-16G>A) n.2847-16G>A c.2893-16G>A (n.2893-16G>A) c.2863-16G>A (n.2863-16G>A) c.894-16G>A (n.894-16G>A) c.3163-16G>A (n.3163-16G>A) c.3172-16G>A (n.3172-16G>A) c.2518-16G>A (n.2518-16G>A) c.2962-16G>A (n.2962-16G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784745G= | CA1883884180 | KCNT1 | c.3028-16G= (n.3028-16G=) c.2869-16G= (n.2869-16G=) c.2776-16G= (n.2776-16G=) c.2785-16G= (n.2785-16G=) c.2929-16G= (n.2929-16G=) c.*2638-16G= (n.*2638-16G=) c.2911-16G= (n.2911-16G=) c.2971-16G= (n.2971-16G=) c.2965-16G= (n.2965-16G=) n.2847-16G= c.2893-16G= (n.2893-16G=) c.2863-16G= (n.2863-16G=) c.894-16G= (n.894-16G=) c.3163-16G= (n.3163-16G=) c.3172-16G= (n.3172-16G=) c.2518-16G= (n.2518-16G=) c.2962-16G= (n.2962-16G=) | |
| 9 | g.135784746G>A | CA2692521830 | KCNT1 | c.3028-15G>A (n.3028-15G>A) c.2869-15G>A (n.2869-15G>A) c.2776-15G>A (n.2776-15G>A) c.2785-15G>A (n.2785-15G>A) c.2929-15G>A (n.2929-15G>A) c.*2638-15G>A (n.*2638-15G>A) c.2911-15G>A (n.2911-15G>A) c.2971-15G>A (n.2971-15G>A) c.2965-15G>A (n.2965-15G>A) n.2847-15G>A c.2893-15G>A (n.2893-15G>A) c.2863-15G>A (n.2863-15G>A) c.894-15G>A (n.894-15G>A) c.3163-15G>A (n.3163-15G>A) c.3172-15G>A (n.3172-15G>A) c.2518-15G>A (n.2518-15G>A) c.2962-15G>A (n.2962-15G>A) | gnomAD v4 |
| 9 | g.135784746G= | CA1883884183 | KCNT1 | c.3028-15G= (n.3028-15G=) c.2869-15G= (n.2869-15G=) c.2776-15G= (n.2776-15G=) c.2785-15G= (n.2785-15G=) c.2929-15G= (n.2929-15G=) c.*2638-15G= (n.*2638-15G=) c.2911-15G= (n.2911-15G=) c.2971-15G= (n.2971-15G=) c.2965-15G= (n.2965-15G=) n.2847-15G= c.2893-15G= (n.2893-15G=) c.2863-15G= (n.2863-15G=) c.894-15G= (n.894-15G=) c.3163-15G= (n.3163-15G=) c.3172-15G= (n.3172-15G=) c.2518-15G= (n.2518-15G=) c.2962-15G= (n.2962-15G=) | |
| 9 | g.135784746G>T | CA5327586 | KCNT1 | c.3028-15G>T (n.3028-15G>T) c.2869-15G>T (n.2869-15G>T) c.2776-15G>T (n.2776-15G>T) c.2785-15G>T (n.2785-15G>T) c.2929-15G>T (n.2929-15G>T) c.*2638-15G>T (n.*2638-15G>T) c.2911-15G>T (n.2911-15G>T) c.2971-15G>T (n.2971-15G>T) c.2965-15G>T (n.2965-15G>T) n.2847-15G>T c.2893-15G>T (n.2893-15G>T) c.2863-15G>T (n.2863-15G>T) c.894-15G>T (n.894-15G>T) c.3163-15G>T (n.3163-15G>T) c.3172-15G>T (n.3172-15G>T) c.2518-15G>T (n.2518-15G>T) c.2962-15G>T (n.2962-15G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784747T>G | CA5327587 | KCNT1 | c.3028-14T>G (n.3028-14T>G) c.2869-14T>G (n.2869-14T>G) c.2776-14T>G (n.2776-14T>G) c.2785-14T>G (n.2785-14T>G) c.2929-14T>G (n.2929-14T>G) c.*2638-14T>G (n.*2638-14T>G) c.2911-14T>G (n.2911-14T>G) c.2971-14T>G (n.2971-14T>G) c.2965-14T>G (n.2965-14T>G) n.2847-14T>G c.2893-14T>G (n.2893-14T>G) c.2863-14T>G (n.2863-14T>G) c.894-14T>G (n.894-14T>G) c.3163-14T>G (n.3163-14T>G) c.3172-14T>G (n.3172-14T>G) c.2518-14T>G (n.2518-14T>G) c.2962-14T>G (n.2962-14T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784747T= | CA1883884190 | KCNT1 | c.3028-14T= (n.3028-14T=) c.2869-14T= (n.2869-14T=) c.2776-14T= (n.2776-14T=) c.2785-14T= (n.2785-14T=) c.2929-14T= (n.2929-14T=) c.*2638-14T= (n.*2638-14T=) c.2911-14T= (n.2911-14T=) c.2971-14T= (n.2971-14T=) c.2965-14T= (n.2965-14T=) n.2847-14T= c.2893-14T= (n.2893-14T=) c.2863-14T= (n.2863-14T=) c.894-14T= (n.894-14T=) c.3163-14T= (n.3163-14T=) c.3172-14T= (n.3172-14T=) c.2518-14T= (n.2518-14T=) c.2962-14T= (n.2962-14T=) | |
| 9 | g.135784750C= | CA1883884194 | KCNT1 | c.3028-11C= (n.3028-11C=) c.2869-11C= (n.2869-11C=) c.2776-11C= (n.2776-11C=) c.2785-11C= (n.2785-11C=) c.2929-11C= (n.2929-11C=) c.*2638-11C= (n.*2638-11C=) c.2911-11C= (n.2911-11C=) c.2971-11C= (n.2971-11C=) c.2965-11C= (n.2965-11C=) n.2847-11C= c.2893-11C= (n.2893-11C=) c.2863-11C= (n.2863-11C=) c.894-11C= (n.894-11C=) c.3163-11C= (n.3163-11C=) c.3172-11C= (n.3172-11C=) c.2518-11C= (n.2518-11C=) c.2962-11C= (n.2962-11C=) | |
| 9 | g.135784750C>T | CA5327588 | KCNT1 | c.3028-11C>T (n.3028-11C>T) c.2869-11C>T (n.2869-11C>T) c.2776-11C>T (n.2776-11C>T) c.2785-11C>T (n.2785-11C>T) c.2929-11C>T (n.2929-11C>T) c.*2638-11C>T (n.*2638-11C>T) c.2911-11C>T (n.2911-11C>T) c.2971-11C>T (n.2971-11C>T) c.2965-11C>T (n.2965-11C>T) n.2847-11C>T c.2893-11C>T (n.2893-11C>T) c.2863-11C>T (n.2863-11C>T) c.894-11C>T (n.894-11C>T) c.3163-11C>T (n.3163-11C>T) c.3172-11C>T (n.3172-11C>T) c.2518-11C>T (n.2518-11C>T) c.2962-11C>T (n.2962-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135784751C>G | CA2499219779 | KCNT1 | c.3028-10C>G (n.3028-10C>G) c.2869-10C>G (n.2869-10C>G) c.2776-10C>G (n.2776-10C>G) c.2785-10C>G (n.2785-10C>G) c.2929-10C>G (n.2929-10C>G) c.*2638-10C>G (n.*2638-10C>G) c.2911-10C>G (n.2911-10C>G) c.2971-10C>G (n.2971-10C>G) c.2965-10C>G (n.2965-10C>G) n.2847-10C>G c.2893-10C>G (n.2893-10C>G) c.2863-10C>G (n.2863-10C>G) c.894-10C>G (n.894-10C>G) c.3163-10C>G (n.3163-10C>G) c.3172-10C>G (n.3172-10C>G) c.2518-10C>G (n.2518-10C>G) c.2962-10C>G (n.2962-10C>G) | ClinVar dbSNP |
| 9 | g.135784751C>T | CA2786248123 | KCNT1 | c.3028-10C>T (n.3028-10C>T) c.2869-10C>T (n.2869-10C>T) c.2776-10C>T (n.2776-10C>T) c.2785-10C>T (n.2785-10C>T) c.2929-10C>T (n.2929-10C>T) c.*2638-10C>T (n.*2638-10C>T) c.2911-10C>T (n.2911-10C>T) c.2971-10C>T (n.2971-10C>T) c.2965-10C>T (n.2965-10C>T) n.2847-10C>T c.2893-10C>T (n.2893-10C>T) c.2863-10C>T (n.2863-10C>T) c.894-10C>T (n.894-10C>T) c.3163-10C>T (n.3163-10C>T) c.3172-10C>T (n.3172-10C>T) c.2518-10C>T (n.2518-10C>T) c.2962-10C>T (n.2962-10C>T) | |
| 9 | g.135784752A>G | CA2692521833 | KCNT1 | c.3028-9A>G (n.3028-9A>G) c.2869-9A>G (n.2869-9A>G) c.2776-9A>G (n.2776-9A>G) c.2785-9A>G (n.2785-9A>G) c.2929-9A>G (n.2929-9A>G) c.*2638-9A>G (n.*2638-9A>G) c.2911-9A>G (n.2911-9A>G) c.2971-9A>G (n.2971-9A>G) c.2965-9A>G (n.2965-9A>G) n.2847-9A>G c.2893-9A>G (n.2893-9A>G) c.2863-9A>G (n.2863-9A>G) c.894-9A>G (n.894-9A>G) c.3163-9A>G (n.3163-9A>G) c.3172-9A>G (n.3172-9A>G) c.2518-9A>G (n.2518-9A>G) c.2962-9A>G (n.2962-9A>G) | gnomAD v4 |
| 9 | g.135784753C>A | CA2692521835 | KCNT1 | c.3028-8C>A (n.3028-8C>A) c.2869-8C>A (n.2869-8C>A) c.2776-8C>A (n.2776-8C>A) c.2785-8C>A (n.2785-8C>A) c.2929-8C>A (n.2929-8C>A) c.*2638-8C>A (n.*2638-8C>A) c.2911-8C>A (n.2911-8C>A) c.2971-8C>A (n.2971-8C>A) c.2965-8C>A (n.2965-8C>A) n.2847-8C>A c.2893-8C>A (n.2893-8C>A) c.2863-8C>A (n.2863-8C>A) c.894-8C>A (n.894-8C>A) c.3163-8C>A (n.3163-8C>A) c.3172-8C>A (n.3172-8C>A) c.2518-8C>A (n.2518-8C>A) c.2962-8C>A (n.2962-8C>A) | gnomAD v4 |
| 9 | g.135784753C>T | CA2573144183 | KCNT1 | c.3028-8C>T (n.3028-8C>T) c.2869-8C>T (n.2869-8C>T) c.2776-8C>T (n.2776-8C>T) c.2785-8C>T (n.2785-8C>T) c.2929-8C>T (n.2929-8C>T) c.*2638-8C>T (n.*2638-8C>T) c.2911-8C>T (n.2911-8C>T) c.2971-8C>T (n.2971-8C>T) c.2965-8C>T (n.2965-8C>T) n.2847-8C>T c.2893-8C>T (n.2893-8C>T) c.2863-8C>T (n.2863-8C>T) c.894-8C>T (n.894-8C>T) c.3163-8C>T (n.3163-8C>T) c.3172-8C>T (n.3172-8C>T) c.2518-8C>T (n.2518-8C>T) c.2962-8C>T (n.2962-8C>T) | ClinVar dbSNP |
| 9 | g.135784756T>C | CA5327589 | KCNT1 | c.3028-5T>C (n.3028-5T>C) c.2869-5T>C (n.2869-5T>C) c.2776-5T>C (n.2776-5T>C) c.2785-5T>C (n.2785-5T>C) c.2929-5T>C (n.2929-5T>C) c.*2638-5T>C (n.*2638-5T>C) c.2911-5T>C (n.2911-5T>C) c.2971-5T>C (n.2971-5T>C) c.2965-5T>C (n.2965-5T>C) n.2847-5T>C c.2893-5T>C (n.2893-5T>C) c.2863-5T>C (n.2863-5T>C) c.894-5T>C (n.894-5T>C) c.3163-5T>C (n.3163-5T>C) c.3172-5T>C (n.3172-5T>C) c.2518-5T>C (n.2518-5T>C) c.2962-5T>C (n.2962-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135784756T>G | CA1883884198 | KCNT1 | c.3028-5T>G (n.3028-5T>G) c.2869-5T>G (n.2869-5T>G) c.2776-5T>G (n.2776-5T>G) c.2785-5T>G (n.2785-5T>G) c.2929-5T>G (n.2929-5T>G) c.*2638-5T>G (n.*2638-5T>G) c.2911-5T>G (n.2911-5T>G) c.2971-5T>G (n.2971-5T>G) c.2965-5T>G (n.2965-5T>G) n.2847-5T>G c.2893-5T>G (n.2893-5T>G) c.2863-5T>G (n.2863-5T>G) c.894-5T>G (n.894-5T>G) c.3163-5T>G (n.3163-5T>G) c.3172-5T>G (n.3172-5T>G) c.2518-5T>G (n.2518-5T>G) c.2962-5T>G (n.2962-5T>G) | ClinVar dbSNP |
| 9 | g.135784756T= | CA1883884197 | KCNT1 | c.3028-5T= (n.3028-5T=) c.2869-5T= (n.2869-5T=) c.2776-5T= (n.2776-5T=) c.2785-5T= (n.2785-5T=) c.2929-5T= (n.2929-5T=) c.*2638-5T= (n.*2638-5T=) c.2911-5T= (n.2911-5T=) c.2971-5T= (n.2971-5T=) c.2965-5T= (n.2965-5T=) n.2847-5T= c.2893-5T= (n.2893-5T=) c.2863-5T= (n.2863-5T=) c.894-5T= (n.894-5T=) c.3163-5T= (n.3163-5T=) c.3172-5T= (n.3172-5T=) c.2518-5T= (n.2518-5T=) c.2962-5T= (n.2962-5T=) | |
| 9 | g.135784757G>A | CA2692521839 | KCNT1 | c.3028-4G>A (n.3028-4G>A) c.2869-4G>A (n.2869-4G>A) c.2776-4G>A (n.2776-4G>A) c.2785-4G>A (n.2785-4G>A) c.2929-4G>A (n.2929-4G>A) c.*2638-4G>A (n.*2638-4G>A) c.2911-4G>A (n.2911-4G>A) c.2971-4G>A (n.2971-4G>A) c.2965-4G>A (n.2965-4G>A) n.2847-4G>A c.2893-4G>A (n.2893-4G>A) c.2863-4G>A (n.2863-4G>A) c.894-4G>A (n.894-4G>A) c.3163-4G>A (n.3163-4G>A) c.3172-4G>A (n.3172-4G>A) c.2518-4G>A (n.2518-4G>A) c.2962-4G>A (n.2962-4G>A) | gnomAD v4 |
| 9 | g.135784758C>A | CA5327591 | KCNT1 | c.3028-3C>A (n.3028-3C>A) c.2869-3C>A (n.2869-3C>A) c.2776-3C>A (n.2776-3C>A) c.2785-3C>A (n.2785-3C>A) c.2929-3C>A (n.2929-3C>A) c.*2638-3C>A (n.*2638-3C>A) c.2911-3C>A (n.2911-3C>A) c.2971-3C>A (n.2971-3C>A) c.2965-3C>A (n.2965-3C>A) n.2847-3C>A c.2893-3C>A (n.2893-3C>A) c.2863-3C>A (n.2863-3C>A) c.894-3C>A (n.894-3C>A) c.3163-3C>A (n.3163-3C>A) c.3172-3C>A (n.3172-3C>A) c.2518-3C>A (n.2518-3C>A) c.2962-3C>A (n.2962-3C>A) | dbSNP ExAC gnomAD v2 |
| 9 | g.135784758C= | CA1883884201 | KCNT1 | c.3028-3C= (n.3028-3C=) c.2869-3C= (n.2869-3C=) c.2776-3C= (n.2776-3C=) c.2785-3C= (n.2785-3C=) c.2929-3C= (n.2929-3C=) c.*2638-3C= (n.*2638-3C=) c.2911-3C= (n.2911-3C=) c.2971-3C= (n.2971-3C=) c.2965-3C= (n.2965-3C=) n.2847-3C= c.2893-3C= (n.2893-3C=) c.2863-3C= (n.2863-3C=) c.894-3C= (n.894-3C=) c.3163-3C= (n.3163-3C=) c.3172-3C= (n.3172-3C=) c.2518-3C= (n.2518-3C=) c.2962-3C= (n.2962-3C=) | |
| 9 | g.135784758C>T | CA5327590 | KCNT1 | c.3028-3C>T (n.3028-3C>T) c.2869-3C>T (n.2869-3C>T) c.2776-3C>T (n.2776-3C>T) c.2785-3C>T (n.2785-3C>T) c.2929-3C>T (n.2929-3C>T) c.*2638-3C>T (n.*2638-3C>T) c.2911-3C>T (n.2911-3C>T) c.2971-3C>T (n.2971-3C>T) c.2965-3C>T (n.2965-3C>T) n.2847-3C>T c.2893-3C>T (n.2893-3C>T) c.2863-3C>T (n.2863-3C>T) c.894-3C>T (n.894-3C>T) c.3163-3C>T (n.3163-3C>T) c.3172-3C>T (n.3172-3C>T) c.2518-3C>T (n.2518-3C>T) c.2962-3C>T (n.2962-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135784759del | CA2579511327 | KCNT1 | c.3028-2del (n.3028-2del) c.2869-2del (n.2869-2del) c.2776-2del (n.2776-2del) c.2785-2del (n.2785-2del) c.2929-2del (n.2929-2del) c.*2638-2del (n.*2638-2del) c.2911-2del (n.2911-2del) c.2971-2del (n.2971-2del) c.2965-2del (n.2965-2del) n.2847-2del c.2893-2del (n.2893-2del) c.2863-2del (n.2863-2del) c.894-2del (n.894-2del) c.3163-2del (n.3163-2del) c.3172-2del (n.3172-2del) c.2518-2del (n.2518-2del) c.2962-2del (n.2962-2del) | |
| 9 | g.135784759A>C | CA375518019 | KCNT1 | c.3028-2A>C (n.3028-2A>C) c.2869-2A>C (n.2869-2A>C) c.2776-2A>C (n.2776-2A>C) c.2785-2A>C (n.2785-2A>C) c.2929-2A>C (n.2929-2A>C) c.*2638-2A>C (n.*2638-2A>C) c.2911-2A>C (n.2911-2A>C) c.2971-2A>C (n.2971-2A>C) c.2965-2A>C (n.2965-2A>C) n.2847-2A>C c.2893-2A>C (n.2893-2A>C) c.2863-2A>C (n.2863-2A>C) c.894-2A>C (n.894-2A>C) c.3163-2A>C (n.3163-2A>C) c.3172-2A>C (n.3172-2A>C) c.2518-2A>C (n.2518-2A>C) c.2962-2A>C (n.2962-2A>C) | |
| 9 | g.135784759A>G | CA375518020 | KCNT1 | c.3028-2A>G (n.3028-2A>G) c.2869-2A>G (n.2869-2A>G) c.2776-2A>G (n.2776-2A>G) c.2785-2A>G (n.2785-2A>G) c.2929-2A>G (n.2929-2A>G) c.*2638-2A>G (n.*2638-2A>G) c.2911-2A>G (n.2911-2A>G) c.2971-2A>G (n.2971-2A>G) c.2965-2A>G (n.2965-2A>G) n.2847-2A>G c.2893-2A>G (n.2893-2A>G) c.2863-2A>G (n.2863-2A>G) c.894-2A>G (n.894-2A>G) c.3163-2A>G (n.3163-2A>G) c.3172-2A>G (n.3172-2A>G) c.2518-2A>G (n.2518-2A>G) c.2962-2A>G (n.2962-2A>G) | |
| 9 | g.135784759A>T | CA375518021 | KCNT1 | c.3028-2A>T (n.3028-2A>T) c.2869-2A>T (n.2869-2A>T) c.2776-2A>T (n.2776-2A>T) c.2785-2A>T (n.2785-2A>T) c.2929-2A>T (n.2929-2A>T) c.*2638-2A>T (n.*2638-2A>T) c.2911-2A>T (n.2911-2A>T) c.2971-2A>T (n.2971-2A>T) c.2965-2A>T (n.2965-2A>T) n.2847-2A>T c.2893-2A>T (n.2893-2A>T) c.2863-2A>T (n.2863-2A>T) c.894-2A>T (n.894-2A>T) c.3163-2A>T (n.3163-2A>T) c.3172-2A>T (n.3172-2A>T) c.2518-2A>T (n.2518-2A>T) c.2962-2A>T (n.2962-2A>T) | ClinVar dbSNP |
| 9 | g.135784760G>A | CA375518022 | KCNT1 | c.3028-1G>A (n.3028-1G>A) c.2869-1G>A (n.2869-1G>A) c.2776-1G>A (n.2776-1G>A) c.2785-1G>A (n.2785-1G>A) c.2929-1G>A (n.2929-1G>A) c.*2638-1G>A (n.*2638-1G>A) c.2911-1G>A (n.2911-1G>A) c.2971-1G>A (n.2971-1G>A) c.2965-1G>A (n.2965-1G>A) n.2847-1G>A c.2893-1G>A (n.2893-1G>A) c.2863-1G>A (n.2863-1G>A) c.894-1G>A (n.894-1G>A) c.3163-1G>A (n.3163-1G>A) c.3172-1G>A (n.3172-1G>A) c.2518-1G>A (n.2518-1G>A) c.2962-1G>A (n.2962-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784760G>C | CA375518023 | KCNT1 | c.3028-1G>C (n.3028-1G>C) c.2869-1G>C (n.2869-1G>C) c.2776-1G>C (n.2776-1G>C) c.2785-1G>C (n.2785-1G>C) c.2929-1G>C (n.2929-1G>C) c.*2638-1G>C (n.*2638-1G>C) c.2911-1G>C (n.2911-1G>C) c.2971-1G>C (n.2971-1G>C) c.2965-1G>C (n.2965-1G>C) n.2847-1G>C c.2893-1G>C (n.2893-1G>C) c.2863-1G>C (n.2863-1G>C) c.894-1G>C (n.894-1G>C) c.3163-1G>C (n.3163-1G>C) c.3172-1G>C (n.3172-1G>C) c.2518-1G>C (n.2518-1G>C) c.2962-1G>C (n.2962-1G>C) | |
| 9 | g.135784760G= | CA1883884204 | KCNT1 | c.3028-1G= (n.3028-1G=) c.2869-1G= (n.2869-1G=) c.2776-1G= (n.2776-1G=) c.2785-1G= (n.2785-1G=) c.2929-1G= (n.2929-1G=) c.*2638-1G= (n.*2638-1G=) c.2911-1G= (n.2911-1G=) c.2971-1G= (n.2971-1G=) c.2965-1G= (n.2965-1G=) n.2847-1G= c.2893-1G= (n.2893-1G=) c.2863-1G= (n.2863-1G=) c.894-1G= (n.894-1G=) c.3163-1G= (n.3163-1G=) c.3172-1G= (n.3172-1G=) c.2518-1G= (n.2518-1G=) c.2962-1G= (n.2962-1G=) | |
| 9 | g.135784760G>T | CA375518024 | KCNT1 | c.3028-1G>T (n.3028-1G>T) c.2869-1G>T (n.2869-1G>T) c.2776-1G>T (n.2776-1G>T) c.2785-1G>T (n.2785-1G>T) c.2929-1G>T (n.2929-1G>T) c.*2638-1G>T (n.*2638-1G>T) c.2911-1G>T (n.2911-1G>T) c.2971-1G>T (n.2971-1G>T) c.2965-1G>T (n.2965-1G>T) n.2847-1G>T c.2893-1G>T (n.2893-1G>T) c.2863-1G>T (n.2863-1G>T) c.894-1G>T (n.894-1G>T) c.3163-1G>T (n.3163-1G>T) c.3172-1G>T (n.3172-1G>T) c.2518-1G>T (n.2518-1G>T) c.2962-1G>T (n.2962-1G>T) | |
| 9 | g.135784761A>C | CA375518025 | KCNT1 | c.3028A>C (p.Met1010Leu) c.2869A>C (p.Met957Leu) c.2776A>C (p.Met926Leu) c.2785A>C (p.Met929Leu) c.2929A>C (p.Met977Leu) c.*2638A>C (n.*2638A>C) c.2911A>C (p.Met971Leu) c.2971A>C (p.Met991Leu) c.2965A>C (p.Met989Leu) n.2847A>C c.2893A>C (p.Met965Leu) c.2863A>C (p.Met955Leu) c.894A>C (n.894A>C) c.3163A>C (p.Met1055Leu) c.3172A>C (p.Met1058Leu) c.2518A>C (p.Met840Leu) c.2962A>C (p.Met988Leu) | gnomAD v4 |
| 9 | g.135784761A>G | CA375518026 | KCNT1 | c.3028A>G (p.Met1010Val) c.2869A>G (p.Met957Val) c.2776A>G (p.Met926Val) c.2785A>G (p.Met929Val) c.2929A>G (p.Met977Val) c.*2638A>G (n.*2638A>G) c.2911A>G (p.Met971Val) c.2971A>G (p.Met991Val) c.2965A>G (p.Met989Val) n.2847A>G c.2893A>G (p.Met965Val) c.2863A>G (p.Met955Val) c.894A>G (n.894A>G) c.3163A>G (p.Met1055Val) c.3172A>G (p.Met1058Val) c.2518A>G (p.Met840Val) c.2962A>G (p.Met988Val) | |
| 9 | g.135784761A>T | CA375518027 | KCNT1 | c.3028A>T (p.Met1010Leu) c.2869A>T (p.Met957Leu) c.2776A>T (p.Met926Leu) c.2785A>T (p.Met929Leu) c.2929A>T (p.Met977Leu) c.*2638A>T (n.*2638A>T) c.2911A>T (p.Met971Leu) c.2971A>T (p.Met991Leu) c.2965A>T (p.Met989Leu) n.2847A>T c.2893A>T (p.Met965Leu) c.2863A>T (p.Met955Leu) c.894A>T (n.894A>T) c.3163A>T (p.Met1055Leu) c.3172A>T (p.Met1058Leu) c.2518A>T (p.Met840Leu) c.2962A>T (p.Met988Leu) | |
| 9 | g.135784762T>A | CA375518028 | KCNT1 | c.3029T>A (p.Met1010Lys) c.2870T>A (p.Met957Lys) c.2777T>A (p.Met926Lys) c.2786T>A (p.Met929Lys) c.2930T>A (p.Met977Lys) c.*2639T>A (n.*2639T>A) c.2912T>A (p.Met971Lys) c.2972T>A (p.Met991Lys) c.2966T>A (p.Met989Lys) n.2848T>A c.2894T>A (p.Met965Lys) c.2864T>A (p.Met955Lys) c.895T>A (n.895T>A) c.3164T>A (p.Met1055Lys) c.3173T>A (p.Met1058Lys) c.2519T>A (p.Met840Lys) c.2963T>A (p.Met988Lys) | |
| 9 | g.135784762T>C | CA375518029 | KCNT1 | c.3029T>C (p.Met1010Thr) c.2870T>C (p.Met957Thr) c.2777T>C (p.Met926Thr) c.2786T>C (p.Met929Thr) c.2930T>C (p.Met977Thr) c.*2639T>C (n.*2639T>C) c.2912T>C (p.Met971Thr) c.2972T>C (p.Met991Thr) c.2966T>C (p.Met989Thr) n.2848T>C c.2894T>C (p.Met965Thr) c.2864T>C (p.Met955Thr) c.895T>C (n.895T>C) c.3164T>C (p.Met1055Thr) c.3173T>C (p.Met1058Thr) c.2519T>C (p.Met840Thr) c.2963T>C (p.Met988Thr) | |
| 9 | g.135784762T>G | CA375518030 | KCNT1 | c.3029T>G (p.Met1010Arg) c.2870T>G (p.Met957Arg) c.2777T>G (p.Met926Arg) c.2786T>G (p.Met929Arg) c.2930T>G (p.Met977Arg) c.*2639T>G (n.*2639T>G) c.2912T>G (p.Met971Arg) c.2972T>G (p.Met991Arg) c.2966T>G (p.Met989Arg) n.2848T>G c.2894T>G (p.Met965Arg) c.2864T>G (p.Met955Arg) c.895T>G (n.895T>G) c.3164T>G (p.Met1055Arg) c.3173T>G (p.Met1058Arg) c.2519T>G (p.Met840Arg) c.2963T>G (p.Met988Arg) | |
| 9 | g.135784763G>A | CA375518031 | KCNT1 | c.3030G>A (p.Met1010Ile) c.2871G>A (p.Met957Ile) c.2778G>A (p.Met926Ile) c.2787G>A (p.Met929Ile) c.2931G>A (p.Met977Ile) c.*2640G>A (n.*2640G>A) c.2913G>A (p.Met971Ile) c.2973G>A (p.Met991Ile) c.2967G>A (p.Met989Ile) n.2849G>A c.2895G>A (p.Met965Ile) c.2865G>A (p.Met955Ile) c.896G>A (n.896G>A) c.3165G>A (p.Met1055Ile) c.3174G>A (p.Met1058Ile) c.2520G>A (p.Met840Ile) c.2964G>A (p.Met988Ile) | gnomAD v4 |
| 9 | g.135784763G>C | CA375518033 | KCNT1 | c.3030G>C (p.Met1010Ile) c.2871G>C (p.Met957Ile) c.2778G>C (p.Met926Ile) c.2787G>C (p.Met929Ile) c.2931G>C (p.Met977Ile) c.*2640G>C (n.*2640G>C) c.2913G>C (p.Met971Ile) c.2973G>C (p.Met991Ile) c.2967G>C (p.Met989Ile) n.2849G>C c.2895G>C (p.Met965Ile) c.2865G>C (p.Met955Ile) c.896G>C (n.896G>C) c.3165G>C (p.Met1055Ile) c.3174G>C (p.Met1058Ile) c.2520G>C (p.Met840Ile) c.2964G>C (p.Met988Ile) | |
| 9 | g.135784763G>T | CA375518032 | KCNT1 | c.3030G>T (p.Met1010Ile) c.2871G>T (p.Met957Ile) c.2778G>T (p.Met926Ile) c.2787G>T (p.Met929Ile) c.2931G>T (p.Met977Ile) c.*2640G>T (n.*2640G>T) c.2913G>T (p.Met971Ile) c.2973G>T (p.Met991Ile) c.2967G>T (p.Met989Ile) n.2849G>T c.2895G>T (p.Met965Ile) c.2865G>T (p.Met955Ile) c.896G>T (n.896G>T) c.3165G>T (p.Met1055Ile) c.3174G>T (p.Met1058Ile) c.2520G>T (p.Met840Ile) c.2964G>T (p.Met988Ile) | |
| 9 | g.135784764A>C | CA375518034 | KCNT1 | c.3031A>C (p.Lys1011Gln) c.2872A>C (p.Lys958Gln) c.2779A>C (p.Lys927Gln) c.2788A>C (p.Lys930Gln) c.2932A>C (p.Lys978Gln) c.*2641A>C (n.*2641A>C) c.2914A>C (p.Lys972Gln) c.2974A>C (p.Lys992Gln) c.2968A>C (p.Lys990Gln) n.2850A>C c.2896A>C (p.Lys966Gln) c.2866A>C (p.Lys956Gln) c.897A>C (n.897A>C) c.3166A>C (p.Lys1056Gln) c.3175A>C (p.Lys1059Gln) c.2521A>C (p.Lys841Gln) c.2965A>C (p.Lys989Gln) | |
| 9 | g.135784764A>G | CA375518035 | KCNT1 | c.3031A>G (p.Lys1011Glu) c.2872A>G (p.Lys958Glu) c.2779A>G (p.Lys927Glu) c.2788A>G (p.Lys930Glu) c.2932A>G (p.Lys978Glu) c.*2641A>G (n.*2641A>G) c.2914A>G (p.Lys972Glu) c.2974A>G (p.Lys992Glu) c.2968A>G (p.Lys990Glu) n.2850A>G c.2896A>G (p.Lys966Glu) c.2866A>G (p.Lys956Glu) c.897A>G (n.897A>G) c.3166A>G (p.Lys1056Glu) c.3175A>G (p.Lys1059Glu) c.2521A>G (p.Lys841Glu) c.2965A>G (p.Lys989Glu) | |
| 9 | g.135784764A>T | CA375518036 | KCNT1 | c.3031A>T (p.Lys1011Ter) c.2872A>T (p.Lys958Ter) c.2779A>T (p.Lys927Ter) c.2788A>T (p.Lys930Ter) c.2932A>T (p.Lys978Ter) c.*2641A>T (n.*2641A>T) c.2914A>T (p.Lys972Ter) c.2974A>T (p.Lys992Ter) c.2968A>T (p.Lys990Ter) n.2850A>T c.2896A>T (p.Lys966Ter) c.2866A>T (p.Lys956Ter) c.897A>T (n.897A>T) c.3166A>T (p.Lys1056Ter) c.3175A>T (p.Lys1059Ter) c.2521A>T (p.Lys841Ter) c.2965A>T (p.Lys989Ter) | |
| 9 | g.135784765A>C | CA375518037 | KCNT1 | c.3032A>C (p.Lys1011Thr) c.2873A>C (p.Lys958Thr) c.2780A>C (p.Lys927Thr) c.2789A>C (p.Lys930Thr) c.2933A>C (p.Lys978Thr) c.*2642A>C (n.*2642A>C) c.2915A>C (p.Lys972Thr) c.2975A>C (p.Lys992Thr) c.2969A>C (p.Lys990Thr) n.2851A>C c.2897A>C (p.Lys966Thr) c.2867A>C (p.Lys956Thr) c.898A>C (n.898A>C) c.3167A>C (p.Lys1056Thr) c.3176A>C (p.Lys1059Thr) c.2522A>C (p.Lys841Thr) c.2966A>C (p.Lys989Thr) | |
| 9 | g.135784765A>G | CA375518038 | KCNT1 | c.3032A>G (p.Lys1011Arg) c.2873A>G (p.Lys958Arg) c.2780A>G (p.Lys927Arg) c.2789A>G (p.Lys930Arg) c.2933A>G (p.Lys978Arg) c.*2642A>G (n.*2642A>G) c.2915A>G (p.Lys972Arg) c.2975A>G (p.Lys992Arg) c.2969A>G (p.Lys990Arg) n.2851A>G c.2897A>G (p.Lys966Arg) c.2867A>G (p.Lys956Arg) c.898A>G (n.898A>G) c.3167A>G (p.Lys1056Arg) c.3176A>G (p.Lys1059Arg) c.2522A>G (p.Lys841Arg) c.2966A>G (p.Lys989Arg) | |
| 9 | g.135784765A>T | CA375518039 | KCNT1 | c.3032A>T (p.Lys1011Ile) c.2873A>T (p.Lys958Ile) c.2780A>T (p.Lys927Ile) c.2789A>T (p.Lys930Ile) c.2933A>T (p.Lys978Ile) c.*2642A>T (n.*2642A>T) c.2915A>T (p.Lys972Ile) c.2975A>T (p.Lys992Ile) c.2969A>T (p.Lys990Ile) n.2851A>T c.2897A>T (p.Lys966Ile) c.2867A>T (p.Lys956Ile) c.898A>T (n.898A>T) c.3167A>T (p.Lys1056Ile) c.3176A>T (p.Lys1059Ile) c.2522A>T (p.Lys841Ile) c.2966A>T (p.Lys989Ile) | |
| 9 | g.135784766A>C | CA375518040 | KCNT1 | c.3033A>C (p.Lys1011Asn) c.2874A>C (p.Lys958Asn) c.2781A>C (p.Lys927Asn) c.2790A>C (p.Lys930Asn) c.2934A>C (p.Lys978Asn) c.*2643A>C (n.*2643A>C) c.2916A>C (p.Lys972Asn) c.2976A>C (p.Lys992Asn) c.2970A>C (p.Lys990Asn) n.2852A>C c.2898A>C (p.Lys966Asn) c.2868A>C (p.Lys956Asn) c.899A>C (n.899A>C) c.3168A>C (p.Lys1056Asn) c.3177A>C (p.Lys1059Asn) c.2523A>C (p.Lys841Asn) c.2967A>C (p.Lys989Asn) | gnomAD v4 |
| 9 | g.135784766A>G | CA467820902 | KCNT1 | c.3033A>G (p.Lys1011=) c.2874A>G (p.Lys958=) c.2781A>G (p.Lys927=) c.2790A>G (p.Lys930=) c.2934A>G (p.Lys978=) c.*2643A>G (n.*2643A>G) c.2916A>G (p.Lys972=) c.2976A>G (p.Lys992=) c.2970A>G (p.Lys990=) n.2852A>G c.2898A>G (p.Lys966=) c.2868A>G (p.Lys956=) c.899A>G (n.899A>G) c.3168A>G (p.Lys1056=) c.3177A>G (p.Lys1059=) c.2523A>G (p.Lys841=) c.2967A>G (p.Lys989=) | |
| 9 | g.135784766A>T | CA375518041 | KCNT1 | c.3033A>T (p.Lys1011Asn) c.2874A>T (p.Lys958Asn) c.2781A>T (p.Lys927Asn) c.2790A>T (p.Lys930Asn) c.2934A>T (p.Lys978Asn) c.*2643A>T (n.*2643A>T) c.2916A>T (p.Lys972Asn) c.2976A>T (p.Lys992Asn) c.2970A>T (p.Lys990Asn) n.2852A>T c.2898A>T (p.Lys966Asn) c.2868A>T (p.Lys956Asn) c.899A>T (n.899A>T) c.3168A>T (p.Lys1056Asn) c.3177A>T (p.Lys1059Asn) c.2523A>T (p.Lys841Asn) c.2967A>T (p.Lys989Asn) | |
| 9 | g.135784767A>C | CA375518042 | KCNT1 | c.3034A>C (p.Ile1012Leu) c.2875A>C (p.Ile959Leu) c.2782A>C (p.Ile928Leu) c.2791A>C (p.Ile931Leu) c.2935A>C (p.Ile979Leu) c.*2644A>C (n.*2644A>C) c.2917A>C (p.Ile973Leu) c.2977A>C (p.Ile993Leu) c.2971A>C (p.Ile991Leu) n.2853A>C c.2899A>C (p.Ile967Leu) c.2869A>C (p.Ile957Leu) c.900A>C (n.900A>C) c.3169A>C (p.Ile1057Leu) c.3178A>C (p.Ile1060Leu) c.2524A>C (p.Ile842Leu) c.2968A>C (p.Ile990Leu) | |
| 9 | g.135784767A>G | CA375518043 | KCNT1 | c.3034A>G (p.Ile1012Val) c.2875A>G (p.Ile959Val) c.2782A>G (p.Ile928Val) c.2791A>G (p.Ile931Val) c.2935A>G (p.Ile979Val) c.*2644A>G (n.*2644A>G) c.2917A>G (p.Ile973Val) c.2977A>G (p.Ile993Val) c.2971A>G (p.Ile991Val) n.2853A>G c.2899A>G (p.Ile967Val) c.2869A>G (p.Ile957Val) c.900A>G (n.900A>G) c.3169A>G (p.Ile1057Val) c.3178A>G (p.Ile1060Val) c.2524A>G (p.Ile842Val) c.2968A>G (p.Ile990Val) | |
| 9 | g.135784767A>T | CA375518044 | KCNT1 | c.3034A>T (p.Ile1012Phe) c.2875A>T (p.Ile959Phe) c.2782A>T (p.Ile928Phe) c.2791A>T (p.Ile931Phe) c.2935A>T (p.Ile979Phe) c.*2644A>T (n.*2644A>T) c.2917A>T (p.Ile973Phe) c.2977A>T (p.Ile993Phe) c.2971A>T (p.Ile991Phe) n.2853A>T c.2899A>T (p.Ile967Phe) c.2869A>T (p.Ile957Phe) c.900A>T (n.900A>T) c.3169A>T (p.Ile1057Phe) c.3178A>T (p.Ile1060Phe) c.2524A>T (p.Ile842Phe) c.2968A>T (p.Ile990Phe) | |
| 9 | g.135784768T>A | CA375518047 | KCNT1 | c.3035T>A (p.Ile1012Asn) c.2876T>A (p.Ile959Asn) c.2783T>A (p.Ile928Asn) c.2792T>A (p.Ile931Asn) c.2936T>A (p.Ile979Asn) c.*2645T>A (n.*2645T>A) c.2918T>A (p.Ile973Asn) c.2978T>A (p.Ile993Asn) c.2972T>A (p.Ile991Asn) n.2854T>A c.2900T>A (p.Ile967Asn) c.2870T>A (p.Ile957Asn) c.901T>A (n.901T>A) c.3170T>A (p.Ile1057Asn) c.3179T>A (p.Ile1060Asn) c.2525T>A (p.Ile842Asn) c.2969T>A (p.Ile990Asn) | |
| 9 | g.135784768T>C | CA375518046 | KCNT1 | c.3035T>C (p.Ile1012Thr) c.2876T>C (p.Ile959Thr) c.2783T>C (p.Ile928Thr) c.2792T>C (p.Ile931Thr) c.2936T>C (p.Ile979Thr) c.*2645T>C (n.*2645T>C) c.2918T>C (p.Ile973Thr) c.2978T>C (p.Ile993Thr) c.2972T>C (p.Ile991Thr) n.2854T>C c.2900T>C (p.Ile967Thr) c.2870T>C (p.Ile957Thr) c.901T>C (n.901T>C) c.3170T>C (p.Ile1057Thr) c.3179T>C (p.Ile1060Thr) c.2525T>C (p.Ile842Thr) c.2969T>C (p.Ile990Thr) | |
| 9 | g.135784768T>G | CA375518045 | KCNT1 | c.3035T>G (p.Ile1012Ser) c.2876T>G (p.Ile959Ser) c.2783T>G (p.Ile928Ser) c.2792T>G (p.Ile931Ser) c.2936T>G (p.Ile979Ser) c.*2645T>G (n.*2645T>G) c.2918T>G (p.Ile973Ser) c.2978T>G (p.Ile993Ser) c.2972T>G (p.Ile991Ser) n.2854T>G c.2900T>G (p.Ile967Ser) c.2870T>G (p.Ile957Ser) c.901T>G (n.901T>G) c.3170T>G (p.Ile1057Ser) c.3179T>G (p.Ile1060Ser) c.2525T>G (p.Ile842Ser) c.2969T>G (p.Ile990Ser) | |
| 9 | g.135784769C>A | CA467820906 | KCNT1 | c.3036C>A (p.Ile1012=) c.2877C>A (p.Ile959=) c.2784C>A (p.Ile928=) c.2793C>A (p.Ile931=) c.2937C>A (p.Ile979=) c.*2646C>A (n.*2646C>A) c.2919C>A (p.Ile973=) c.2979C>A (p.Ile993=) c.2973C>A (p.Ile991=) n.2855C>A c.2901C>A (p.Ile967=) c.2871C>A (p.Ile957=) c.902C>A (n.902C>A) c.3171C>A (p.Ile1057=) c.3180C>A (p.Ile1060=) c.2526C>A (p.Ile842=) c.2970C>A (p.Ile990=) | |
| 9 | g.135784769C= | CA1883884207 | KCNT1 | c.3036C= (p.Ile1012=) c.2877C= (p.Ile959=) c.2784C= (p.Ile928=) c.2793C= (p.Ile931=) c.2937C= (p.Ile979=) c.*2646C= (n.*2646C=) c.2919C= (p.Ile973=) c.2979C= (p.Ile993=) c.2973C= (p.Ile991=) n.2855C= c.2901C= (p.Ile967=) c.2871C= (p.Ile957=) c.902C= (n.902C=) c.3171C= (p.Ile1057=) c.3180C= (p.Ile1060=) c.2526C= (p.Ile842=) c.2970C= (p.Ile990=) | |
| 9 | g.135784769C>G | CA375518048 | KCNT1 | c.3036C>G (p.Ile1012Met) c.2877C>G (p.Ile959Met) c.2784C>G (p.Ile928Met) c.2793C>G (p.Ile931Met) c.2937C>G (p.Ile979Met) c.*2646C>G (n.*2646C>G) c.2919C>G (p.Ile973Met) c.2979C>G (p.Ile993Met) c.2973C>G (p.Ile991Met) n.2855C>G c.2901C>G (p.Ile967Met) c.2871C>G (p.Ile957Met) c.902C>G (n.902C>G) c.3171C>G (p.Ile1057Met) c.3180C>G (p.Ile1060Met) c.2526C>G (p.Ile842Met) c.2970C>G (p.Ile990Met) | |
| 9 | g.135784769C>T | CA5327592 | KCNT1 | c.3036C>T (p.Ile1012=) c.2877C>T (p.Ile959=) c.2784C>T (p.Ile928=) c.2793C>T (p.Ile931=) c.2937C>T (p.Ile979=) c.*2646C>T (n.*2646C>T) c.2919C>T (p.Ile973=) c.2979C>T (p.Ile993=) c.2973C>T (p.Ile991=) n.2855C>T c.2901C>T (p.Ile967=) c.2871C>T (p.Ile957=) c.902C>T (n.902C>T) c.3171C>T (p.Ile1057=) c.3180C>T (p.Ile1060=) c.2526C>T (p.Ile842=) c.2970C>T (p.Ile990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784770A>C | CA375518049 | KCNT1 | c.3037A>C (p.Thr1013Pro) c.2878A>C (p.Thr960Pro) c.2785A>C (p.Thr929Pro) c.2794A>C (p.Thr932Pro) c.2938A>C (p.Thr980Pro) c.*2647A>C (n.*2647A>C) c.2920A>C (p.Thr974Pro) c.2980A>C (p.Thr994Pro) c.2974A>C (p.Thr992Pro) n.2856A>C c.2902A>C (p.Thr968Pro) c.2872A>C (p.Thr958Pro) c.903A>C (n.903A>C) c.3172A>C (p.Thr1058Pro) c.3181A>C (p.Thr1061Pro) c.2527A>C (p.Thr843Pro) c.2971A>C (p.Thr991Pro) | |
| 9 | g.135784770A>G | CA375518050 | KCNT1 | c.3037A>G (p.Thr1013Ala) c.2878A>G (p.Thr960Ala) c.2785A>G (p.Thr929Ala) c.2794A>G (p.Thr932Ala) c.2938A>G (p.Thr980Ala) c.*2647A>G (n.*2647A>G) c.2920A>G (p.Thr974Ala) c.2980A>G (p.Thr994Ala) c.2974A>G (p.Thr992Ala) n.2856A>G c.2902A>G (p.Thr968Ala) c.2872A>G (p.Thr958Ala) c.903A>G (n.903A>G) c.3172A>G (p.Thr1058Ala) c.3181A>G (p.Thr1061Ala) c.2527A>G (p.Thr843Ala) c.2971A>G (p.Thr991Ala) | |
| 9 | g.135784770A>T | CA375518051 | KCNT1 | c.3037A>T (p.Thr1013Ser) c.2878A>T (p.Thr960Ser) c.2785A>T (p.Thr929Ser) c.2794A>T (p.Thr932Ser) c.2938A>T (p.Thr980Ser) c.*2647A>T (n.*2647A>T) c.2920A>T (p.Thr974Ser) c.2980A>T (p.Thr994Ser) c.2974A>T (p.Thr992Ser) n.2856A>T c.2902A>T (p.Thr968Ser) c.2872A>T (p.Thr958Ser) c.903A>T (n.903A>T) c.3172A>T (p.Thr1058Ser) c.3181A>T (p.Thr1061Ser) c.2527A>T (p.Thr843Ser) c.2971A>T (p.Thr991Ser) | |
| 9 | g.135784771C>A | CA375518052 | KCNT1 | c.3038C>A (p.Thr1013Asn) c.2879C>A (p.Thr960Asn) c.2786C>A (p.Thr929Asn) c.2795C>A (p.Thr932Asn) c.2939C>A (p.Thr980Asn) c.*2648C>A (n.*2648C>A) c.2921C>A (p.Thr974Asn) c.2981C>A (p.Thr994Asn) c.2975C>A (p.Thr992Asn) n.2857C>A c.2903C>A (p.Thr968Asn) c.2873C>A (p.Thr958Asn) c.904C>A (n.904C>A) c.3173C>A (p.Thr1058Asn) c.3182C>A (p.Thr1061Asn) c.2528C>A (p.Thr843Asn) c.2972C>A (p.Thr991Asn) | |
| 9 | g.135784771C>G | CA375518053 | KCNT1 | c.3038C>G (p.Thr1013Ser) c.2879C>G (p.Thr960Ser) c.2786C>G (p.Thr929Ser) c.2795C>G (p.Thr932Ser) c.2939C>G (p.Thr980Ser) c.*2648C>G (n.*2648C>G) c.2921C>G (p.Thr974Ser) c.2981C>G (p.Thr994Ser) c.2975C>G (p.Thr992Ser) n.2857C>G c.2903C>G (p.Thr968Ser) c.2873C>G (p.Thr958Ser) c.904C>G (n.904C>G) c.3173C>G (p.Thr1058Ser) c.3182C>G (p.Thr1061Ser) c.2528C>G (p.Thr843Ser) c.2972C>G (p.Thr991Ser) | gnomAD v4 |
| 9 | g.135784771C>T | CA375518055 | KCNT1 | c.3038C>T (p.Thr1013Ile) c.2879C>T (p.Thr960Ile) c.2786C>T (p.Thr929Ile) c.2795C>T (p.Thr932Ile) c.2939C>T (p.Thr980Ile) c.*2648C>T (n.*2648C>T) c.2921C>T (p.Thr974Ile) c.2981C>T (p.Thr994Ile) c.2975C>T (p.Thr992Ile) n.2857C>T c.2903C>T (p.Thr968Ile) c.2873C>T (p.Thr958Ile) c.904C>T (n.904C>T) c.3173C>T (p.Thr1058Ile) c.3182C>T (p.Thr1061Ile) c.2528C>T (p.Thr843Ile) c.2972C>T (p.Thr991Ile) | |
| 9 | g.135784772C>A | CA467820911 | KCNT1 | c.3039C>A (p.Thr1013=) c.2880C>A (p.Thr960=) c.2787C>A (p.Thr929=) c.2796C>A (p.Thr932=) c.2940C>A (p.Thr980=) c.*2649C>A (n.*2649C>A) c.2922C>A (p.Thr974=) c.2982C>A (p.Thr994=) c.2976C>A (p.Thr992=) n.2858C>A c.2904C>A (p.Thr968=) c.2874C>A (p.Thr958=) c.905C>A (n.905C>A) c.3174C>A (p.Thr1058=) c.3183C>A (p.Thr1061=) c.2529C>A (p.Thr843=) c.2973C>A (p.Thr991=) | |
| 9 | g.135784772C= | CA1883884209 | KCNT1 | c.3039C= (p.Thr1013=) c.2880C= (p.Thr960=) c.2787C= (p.Thr929=) c.2796C= (p.Thr932=) c.2940C= (p.Thr980=) c.*2649C= (n.*2649C=) c.2922C= (p.Thr974=) c.2982C= (p.Thr994=) c.2976C= (p.Thr992=) n.2858C= c.2904C= (p.Thr968=) c.2874C= (p.Thr958=) c.905C= (n.905C=) c.3174C= (p.Thr1058=) c.3183C= (p.Thr1061=) c.2529C= (p.Thr843=) c.2973C= (p.Thr991=) | |
| 9 | g.135784772C>G | CA467820910 | KCNT1 | c.3039C>G (p.Thr1013=) c.2880C>G (p.Thr960=) c.2787C>G (p.Thr929=) c.2796C>G (p.Thr932=) c.2940C>G (p.Thr980=) c.*2649C>G (n.*2649C>G) c.2922C>G (p.Thr974=) c.2982C>G (p.Thr994=) c.2976C>G (p.Thr992=) n.2858C>G c.2904C>G (p.Thr968=) c.2874C>G (p.Thr958=) c.905C>G (n.905C>G) c.3174C>G (p.Thr1058=) c.3183C>G (p.Thr1061=) c.2529C>G (p.Thr843=) c.2973C>G (p.Thr991=) | |
| 9 | g.135784772C>T | CA5327593 | KCNT1 | c.3039C>T (p.Thr1013=) c.2880C>T (p.Thr960=) c.2787C>T (p.Thr929=) c.2796C>T (p.Thr932=) c.2940C>T (p.Thr980=) c.*2649C>T (n.*2649C>T) c.2922C>T (p.Thr974=) c.2982C>T (p.Thr994=) c.2976C>T (p.Thr992=) n.2858C>T c.2904C>T (p.Thr968=) c.2874C>T (p.Thr958=) c.905C>T (n.905C>T) c.3174C>T (p.Thr1058=) c.3183C>T (p.Thr1061=) c.2529C>T (p.Thr843=) c.2973C>T (p.Thr991=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784773G>A | CA5327594 | KCNT1 | c.3040G>A (p.Glu1014Lys) c.2881G>A (p.Glu961Lys) c.2788G>A (p.Glu930Lys) c.2797G>A (p.Glu933Lys) c.2941G>A (p.Glu981Lys) c.*2650G>A (n.*2650G>A) c.2923G>A (p.Glu975Lys) c.2983G>A (p.Glu995Lys) c.2977G>A (p.Glu993Lys) n.2859G>A c.2905G>A (p.Glu969Lys) c.2875G>A (p.Glu959Lys) c.906G>A (n.906G>A) c.3175G>A (p.Glu1059Lys) c.3184G>A (p.Glu1062Lys) c.2530G>A (p.Glu844Lys) c.2974G>A (p.Glu992Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784773G>C | CA375518056 | KCNT1 | c.3040G>C (p.Glu1014Gln) c.2881G>C (p.Glu961Gln) c.2788G>C (p.Glu930Gln) c.2797G>C (p.Glu933Gln) c.2941G>C (p.Glu981Gln) c.*2650G>C (n.*2650G>C) c.2923G>C (p.Glu975Gln) c.2983G>C (p.Glu995Gln) c.2977G>C (p.Glu993Gln) n.2859G>C c.2905G>C (p.Glu969Gln) c.2875G>C (p.Glu959Gln) c.906G>C (n.906G>C) c.3175G>C (p.Glu1059Gln) c.3184G>C (p.Glu1062Gln) c.2530G>C (p.Glu844Gln) c.2974G>C (p.Glu992Gln) | dbSNP |
| 9 | g.135784773G= | CA1883884218 | KCNT1 | c.3040G= (p.Glu1014=) c.2881G= (p.Glu961=) c.2788G= (p.Glu930=) c.2797G= (p.Glu933=) c.2941G= (p.Glu981=) c.*2650G= (n.*2650G=) c.2923G= (p.Glu975=) c.2983G= (p.Glu995=) c.2977G= (p.Glu993=) n.2859G= c.2905G= (p.Glu969=) c.2875G= (p.Glu959=) c.906G= (n.906G=) c.3175G= (p.Glu1059=) c.3184G= (p.Glu1062=) c.2530G= (p.Glu844=) c.2974G= (p.Glu992=) | |
| 9 | g.135784773G>T | CA375518057 | KCNT1 | c.3040G>T (p.Glu1014Ter) c.2881G>T (p.Glu961Ter) c.2788G>T (p.Glu930Ter) c.2797G>T (p.Glu933Ter) c.2941G>T (p.Glu981Ter) c.*2650G>T (n.*2650G>T) c.2923G>T (p.Glu975Ter) c.2983G>T (p.Glu995Ter) c.2977G>T (p.Glu993Ter) n.2859G>T c.2905G>T (p.Glu969Ter) c.2875G>T (p.Glu959Ter) c.906G>T (n.906G>T) c.3175G>T (p.Glu1059Ter) c.3184G>T (p.Glu1062Ter) c.2530G>T (p.Glu844Ter) c.2974G>T (p.Glu992Ter) | |
| 9 | g.135784774A>C | CA375518059 | KCNT1 | c.3041A>C (p.Glu1014Ala) c.2882A>C (p.Glu961Ala) c.2789A>C (p.Glu930Ala) c.2798A>C (p.Glu933Ala) c.2942A>C (p.Glu981Ala) c.*2651A>C (n.*2651A>C) c.2924A>C (p.Glu975Ala) c.2984A>C (p.Glu995Ala) c.2978A>C (p.Glu993Ala) n.2860A>C c.2906A>C (p.Glu969Ala) c.2876A>C (p.Glu959Ala) c.907A>C (n.907A>C) c.3176A>C (p.Glu1059Ala) c.3185A>C (p.Glu1062Ala) c.2531A>C (p.Glu844Ala) c.2975A>C (p.Glu992Ala) | |
| 9 | g.135784774A>G | CA375518060 | KCNT1 | c.3041A>G (p.Glu1014Gly) c.2882A>G (p.Glu961Gly) c.2789A>G (p.Glu930Gly) c.2798A>G (p.Glu933Gly) c.2942A>G (p.Glu981Gly) c.*2651A>G (n.*2651A>G) c.2924A>G (p.Glu975Gly) c.2984A>G (p.Glu995Gly) c.2978A>G (p.Glu993Gly) n.2860A>G c.2906A>G (p.Glu969Gly) c.2876A>G (p.Glu959Gly) c.907A>G (n.907A>G) c.3176A>G (p.Glu1059Gly) c.3185A>G (p.Glu1062Gly) c.2531A>G (p.Glu844Gly) c.2975A>G (p.Glu992Gly) | |
| 9 | g.135784774A>T | CA375518058 | KCNT1 | c.3041A>T (p.Glu1014Val) c.2882A>T (p.Glu961Val) c.2789A>T (p.Glu930Val) c.2798A>T (p.Glu933Val) c.2942A>T (p.Glu981Val) c.*2651A>T (n.*2651A>T) c.2924A>T (p.Glu975Val) c.2984A>T (p.Glu995Val) c.2978A>T (p.Glu993Val) n.2860A>T c.2906A>T (p.Glu969Val) c.2876A>T (p.Glu959Val) c.907A>T (n.907A>T) c.3176A>T (p.Glu1059Val) c.3185A>T (p.Glu1062Val) c.2531A>T (p.Glu844Val) c.2975A>T (p.Glu992Val) | |
| 9 | g.135784775G>A | CA467820915 | KCNT1 | c.3042G>A (p.Glu1014=) c.2883G>A (p.Glu961=) c.2790G>A (p.Glu930=) c.2799G>A (p.Glu933=) c.2943G>A (p.Glu981=) c.*2652G>A (n.*2652G>A) c.2925G>A (p.Glu975=) c.2985G>A (p.Glu995=) c.2979G>A (p.Glu993=) n.2861G>A c.2907G>A (p.Glu969=) c.2877G>A (p.Glu959=) c.908G>A (n.908G>A) c.3177G>A (p.Glu1059=) c.3186G>A (p.Glu1062=) c.2532G>A (p.Glu844=) c.2976G>A (p.Glu992=) | ClinVar dbSNP |
| 9 | g.135784775G>C | CA375518062 | KCNT1 | c.3042G>C (p.Glu1014Asp) c.2883G>C (p.Glu961Asp) c.2790G>C (p.Glu930Asp) c.2799G>C (p.Glu933Asp) c.2943G>C (p.Glu981Asp) c.*2652G>C (n.*2652G>C) c.2925G>C (p.Glu975Asp) c.2985G>C (p.Glu995Asp) c.2979G>C (p.Glu993Asp) n.2861G>C c.2907G>C (p.Glu969Asp) c.2877G>C (p.Glu959Asp) c.908G>C (n.908G>C) c.3177G>C (p.Glu1059Asp) c.3186G>C (p.Glu1062Asp) c.2532G>C (p.Glu844Asp) c.2976G>C (p.Glu992Asp) | gnomAD v4 |
| 9 | g.135784775G= | CA1883884224 | KCNT1 | c.3042G= (p.Glu1014=) c.2883G= (p.Glu961=) c.2790G= (p.Glu930=) c.2799G= (p.Glu933=) c.2943G= (p.Glu981=) c.*2652G= (n.*2652G=) c.2925G= (p.Glu975=) c.2985G= (p.Glu995=) c.2979G= (p.Glu993=) n.2861G= c.2907G= (p.Glu969=) c.2877G= (p.Glu959=) c.908G= (n.908G=) c.3177G= (p.Glu1059=) c.3186G= (p.Glu1062=) c.2532G= (p.Glu844=) c.2976G= (p.Glu992=) | |
| 9 | g.135784775G>T | CA375518061 | KCNT1 | c.3042G>T (p.Glu1014Asp) c.2883G>T (p.Glu961Asp) c.2790G>T (p.Glu930Asp) c.2799G>T (p.Glu933Asp) c.2943G>T (p.Glu981Asp) c.*2652G>T (n.*2652G>T) c.2925G>T (p.Glu975Asp) c.2985G>T (p.Glu995Asp) c.2979G>T (p.Glu993Asp) n.2861G>T c.2907G>T (p.Glu969Asp) c.2877G>T (p.Glu959Asp) c.908G>T (n.908G>T) c.3177G>T (p.Glu1059Asp) c.3186G>T (p.Glu1062Asp) c.2532G>T (p.Glu844Asp) c.2976G>T (p.Glu992Asp) | |
| 9 | g.135784776G>A | CA375518063 | KCNT1 | c.3043G>A (p.Gly1015Ser) c.2884G>A (p.Gly962Ser) c.2791G>A (p.Gly931Ser) c.2800G>A (p.Gly934Ser) c.2944G>A (p.Gly982Ser) c.*2653G>A (n.*2653G>A) c.2926G>A (p.Gly976Ser) c.2986G>A (p.Gly996Ser) c.2980G>A (p.Gly994Ser) n.2862G>A c.2908G>A (p.Gly970Ser) c.2878G>A (p.Gly960Ser) c.909G>A (n.909G>A) c.3178G>A (p.Gly1060Ser) c.3187G>A (p.Gly1063Ser) c.2533G>A (p.Gly845Ser) c.2977G>A (p.Gly993Ser) | gnomAD v4 |
| 9 | g.135784776G>C | CA375518064 | KCNT1 | c.3043G>C (p.Gly1015Arg) c.2884G>C (p.Gly962Arg) c.2791G>C (p.Gly931Arg) c.2800G>C (p.Gly934Arg) c.2944G>C (p.Gly982Arg) c.*2653G>C (n.*2653G>C) c.2926G>C (p.Gly976Arg) c.2986G>C (p.Gly996Arg) c.2980G>C (p.Gly994Arg) n.2862G>C c.2908G>C (p.Gly970Arg) c.2878G>C (p.Gly960Arg) c.909G>C (n.909G>C) c.3178G>C (p.Gly1060Arg) c.3187G>C (p.Gly1063Arg) c.2533G>C (p.Gly845Arg) c.2977G>C (p.Gly993Arg) | |
| 9 | g.135784776G>T | CA375518065 | KCNT1 | c.3043G>T (p.Gly1015Cys) c.2884G>T (p.Gly962Cys) c.2791G>T (p.Gly931Cys) c.2800G>T (p.Gly934Cys) c.2944G>T (p.Gly982Cys) c.*2653G>T (n.*2653G>T) c.2926G>T (p.Gly976Cys) c.2986G>T (p.Gly996Cys) c.2980G>T (p.Gly994Cys) n.2862G>T c.2908G>T (p.Gly970Cys) c.2878G>T (p.Gly960Cys) c.909G>T (n.909G>T) c.3178G>T (p.Gly1060Cys) c.3187G>T (p.Gly1063Cys) c.2533G>T (p.Gly845Cys) c.2977G>T (p.Gly993Cys) | |
| 9 | g.135784777G>A | CA375518066 | KCNT1 | c.3044G>A (p.Gly1015Asp) c.2885G>A (p.Gly962Asp) c.2792G>A (p.Gly931Asp) c.2801G>A (p.Gly934Asp) c.2945G>A (p.Gly982Asp) c.*2654G>A (n.*2654G>A) c.2927G>A (p.Gly976Asp) c.2987G>A (p.Gly996Asp) c.2981G>A (p.Gly994Asp) n.2863G>A c.2909G>A (p.Gly970Asp) c.2879G>A (p.Gly960Asp) c.910G>A (n.910G>A) c.3179G>A (p.Gly1060Asp) c.3188G>A (p.Gly1063Asp) c.2534G>A (p.Gly845Asp) c.2978G>A (p.Gly993Asp) | |
| 9 | g.135784777G>C | CA375518067 | KCNT1 | c.3044G>C (p.Gly1015Ala) c.2885G>C (p.Gly962Ala) c.2792G>C (p.Gly931Ala) c.2801G>C (p.Gly934Ala) c.2945G>C (p.Gly982Ala) c.*2654G>C (n.*2654G>C) c.2927G>C (p.Gly976Ala) c.2987G>C (p.Gly996Ala) c.2981G>C (p.Gly994Ala) n.2863G>C c.2909G>C (p.Gly970Ala) c.2879G>C (p.Gly960Ala) c.910G>C (n.910G>C) c.3179G>C (p.Gly1060Ala) c.3188G>C (p.Gly1063Ala) c.2534G>C (p.Gly845Ala) c.2978G>C (p.Gly993Ala) | |
| 9 | g.135784777G>T | CA375518068 | KCNT1 | c.3044G>T (p.Gly1015Val) c.2885G>T (p.Gly962Val) c.2792G>T (p.Gly931Val) c.2801G>T (p.Gly934Val) c.2945G>T (p.Gly982Val) c.*2654G>T (n.*2654G>T) c.2927G>T (p.Gly976Val) c.2987G>T (p.Gly996Val) c.2981G>T (p.Gly994Val) n.2863G>T c.2909G>T (p.Gly970Val) c.2879G>T (p.Gly960Val) c.910G>T (n.910G>T) c.3179G>T (p.Gly1060Val) c.3188G>T (p.Gly1063Val) c.2534G>T (p.Gly845Val) c.2978G>T (p.Gly993Val) | |
| 9 | g.135784778C>A | CA467820919 | KCNT1 | c.3045C>A (p.Gly1015=) c.2886C>A (p.Gly962=) c.2793C>A (p.Gly931=) c.2802C>A (p.Gly934=) c.2946C>A (p.Gly982=) c.*2655C>A (n.*2655C>A) c.2928C>A (p.Gly976=) c.2988C>A (p.Gly996=) c.2982C>A (p.Gly994=) n.2864C>A c.2910C>A (p.Gly970=) c.2880C>A (p.Gly960=) c.911C>A (n.911C>A) c.3180C>A (p.Gly1060=) c.3189C>A (p.Gly1063=) c.2535C>A (p.Gly845=) c.2979C>A (p.Gly993=) | gnomAD v4 |
| 9 | g.135784778C= | CA1883884230 | KCNT1 | c.3045C= (p.Gly1015=) c.2886C= (p.Gly962=) c.2793C= (p.Gly931=) c.2802C= (p.Gly934=) c.2946C= (p.Gly982=) c.*2655C= (n.*2655C=) c.2928C= (p.Gly976=) c.2988C= (p.Gly996=) c.2982C= (p.Gly994=) n.2864C= c.2910C= (p.Gly970=) c.2880C= (p.Gly960=) c.911C= (n.911C=) c.3180C= (p.Gly1060=) c.3189C= (p.Gly1063=) c.2535C= (p.Gly845=) c.2979C= (p.Gly993=) | |
| 9 | g.135784778C>G | CA467820920 | KCNT1 | c.3045C>G (p.Gly1015=) c.2886C>G (p.Gly962=) c.2793C>G (p.Gly931=) c.2802C>G (p.Gly934=) c.2946C>G (p.Gly982=) c.*2655C>G (n.*2655C>G) c.2928C>G (p.Gly976=) c.2988C>G (p.Gly996=) c.2982C>G (p.Gly994=) n.2864C>G c.2910C>G (p.Gly970=) c.2880C>G (p.Gly960=) c.911C>G (n.911C>G) c.3180C>G (p.Gly1060=) c.3189C>G (p.Gly1063=) c.2535C>G (p.Gly845=) c.2979C>G (p.Gly993=) | gnomAD v4 |
| 9 | g.135784778C>T | CA5327595 | KCNT1 | c.3045C>T (p.Gly1015=) c.2886C>T (p.Gly962=) c.2793C>T (p.Gly931=) c.2802C>T (p.Gly934=) c.2946C>T (p.Gly982=) c.*2655C>T (n.*2655C>T) c.2928C>T (p.Gly976=) c.2988C>T (p.Gly996=) c.2982C>T (p.Gly994=) n.2864C>T c.2910C>T (p.Gly970=) c.2880C>T (p.Gly960=) c.911C>T (n.911C>T) c.3180C>T (p.Gly1060=) c.3189C>T (p.Gly1063=) c.2535C>T (p.Gly845=) c.2979C>T (p.Gly993=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135784779G>A | CA5327596 | KCNT1 | c.3046G>A (p.Asp1016Asn) c.2887G>A (p.Asp963Asn) c.2794G>A (p.Asp932Asn) c.2803G>A (p.Asp935Asn) c.2947G>A (p.Asp983Asn) c.*2656G>A (n.*2656G>A) c.2929G>A (p.Asp977Asn) c.2989G>A (p.Asp997Asn) c.2983G>A (p.Asp995Asn) n.2865G>A c.2911G>A (p.Asp971Asn) c.2881G>A (p.Asp961Asn) c.912G>A (n.912G>A) c.3181G>A (p.Asp1061Asn) c.3190G>A (p.Asp1064Asn) c.2536G>A (p.Asp846Asn) c.2980G>A (p.Asp994Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135784779G>C | CA375518069 | KCNT1 | c.3046G>C (p.Asp1016His) c.2887G>C (p.Asp963His) c.2794G>C (p.Asp932His) c.2803G>C (p.Asp935His) c.2947G>C (p.Asp983His) c.*2656G>C (n.*2656G>C) c.2929G>C (p.Asp977His) c.2989G>C (p.Asp997His) c.2983G>C (p.Asp995His) n.2865G>C c.2911G>C (p.Asp971His) c.2881G>C (p.Asp961His) c.912G>C (n.912G>C) c.3181G>C (p.Asp1061His) c.3190G>C (p.Asp1064His) c.2536G>C (p.Asp846His) c.2980G>C (p.Asp994His) | |
| 9 | g.135784779G= | CA1883884236 | KCNT1 | c.3046G= (p.Asp1016=) c.2887G= (p.Asp963=) c.2794G= (p.Asp932=) c.2803G= (p.Asp935=) c.2947G= (p.Asp983=) c.*2656G= (n.*2656G=) c.2929G= (p.Asp977=) c.2989G= (p.Asp997=) c.2983G= (p.Asp995=) n.2865G= c.2911G= (p.Asp971=) c.2881G= (p.Asp961=) c.912G= (n.912G=) c.3181G= (p.Asp1061=) c.3190G= (p.Asp1064=) c.2536G= (p.Asp846=) c.2980G= (p.Asp994=) | |
| 9 | g.135784779G>T | CA375518070 | KCNT1 | c.3046G>T (p.Asp1016Tyr) c.2887G>T (p.Asp963Tyr) c.2794G>T (p.Asp932Tyr) c.2803G>T (p.Asp935Tyr) c.2947G>T (p.Asp983Tyr) c.*2656G>T (n.*2656G>T) c.2929G>T (p.Asp977Tyr) c.2989G>T (p.Asp997Tyr) c.2983G>T (p.Asp995Tyr) n.2865G>T c.2911G>T (p.Asp971Tyr) c.2881G>T (p.Asp961Tyr) c.912G>T (n.912G>T) c.3181G>T (p.Asp1061Tyr) c.3190G>T (p.Asp1064Tyr) c.2536G>T (p.Asp846Tyr) c.2980G>T (p.Asp994Tyr) | ClinVar dbSNP |
| 9 | g.135784780A>C | CA375518071 | KCNT1 | c.3047A>C (p.Asp1016Ala) c.2888A>C (p.Asp963Ala) c.2795A>C (p.Asp932Ala) c.2804A>C (p.Asp935Ala) c.2948A>C (p.Asp983Ala) c.*2657A>C (n.*2657A>C) c.2930A>C (p.Asp977Ala) c.2990A>C (p.Asp997Ala) c.2984A>C (p.Asp995Ala) n.2866A>C c.2912A>C (p.Asp971Ala) c.2882A>C (p.Asp961Ala) c.913A>C (n.913A>C) c.3182A>C (p.Asp1061Ala) c.3191A>C (p.Asp1064Ala) c.2537A>C (p.Asp846Ala) c.2981A>C (p.Asp994Ala) | |
| 9 | g.135784780A>G | CA375518072 | KCNT1 | c.3047A>G (p.Asp1016Gly) c.2888A>G (p.Asp963Gly) c.2795A>G (p.Asp932Gly) c.2804A>G (p.Asp935Gly) c.2948A>G (p.Asp983Gly) c.*2657A>G (n.*2657A>G) c.2930A>G (p.Asp977Gly) c.2990A>G (p.Asp997Gly) c.2984A>G (p.Asp995Gly) n.2866A>G c.2912A>G (p.Asp971Gly) c.2882A>G (p.Asp961Gly) c.913A>G (n.913A>G) c.3182A>G (p.Asp1061Gly) c.3191A>G (p.Asp1064Gly) c.2537A>G (p.Asp846Gly) c.2981A>G (p.Asp994Gly) | |
| 9 | g.135784780A>T | CA375518073 | KCNT1 | c.3047A>T (p.Asp1016Val) c.2888A>T (p.Asp963Val) c.2795A>T (p.Asp932Val) c.2804A>T (p.Asp935Val) c.2948A>T (p.Asp983Val) c.*2657A>T (n.*2657A>T) c.2930A>T (p.Asp977Val) c.2990A>T (p.Asp997Val) c.2984A>T (p.Asp995Val) n.2866A>T c.2912A>T (p.Asp971Val) c.2882A>T (p.Asp961Val) c.913A>T (n.913A>T) c.3182A>T (p.Asp1061Val) c.3191A>T (p.Asp1064Val) c.2537A>T (p.Asp846Val) c.2981A>T (p.Asp994Val) | |
| 9 | g.135784781C>A | CA375518074 | KCNT1 | c.3048C>A (p.Asp1016Glu) c.2889C>A (p.Asp963Glu) c.2796C>A (p.Asp932Glu) c.2805C>A (p.Asp935Glu) c.2949C>A (p.Asp983Glu) c.*2658C>A (n.*2658C>A) c.2931C>A (p.Asp977Glu) c.2991C>A (p.Asp997Glu) c.2985C>A (p.Asp995Glu) n.2867C>A c.2913C>A (p.Asp971Glu) c.2883C>A (p.Asp961Glu) c.914C>A (n.914C>A) c.3183C>A (p.Asp1061Glu) c.3192C>A (p.Asp1064Glu) c.2538C>A (p.Asp846Glu) c.2982C>A (p.Asp994Glu) | |
| 9 | g.135784781C= | CA1883884243 | KCNT1 | c.3048C= (p.Asp1016=) c.2889C= (p.Asp963=) c.2796C= (p.Asp932=) c.2805C= (p.Asp935=) c.2949C= (p.Asp983=) c.*2658C= (n.*2658C=) c.2931C= (p.Asp977=) c.2991C= (p.Asp997=) c.2985C= (p.Asp995=) n.2867C= c.2913C= (p.Asp971=) c.2883C= (p.Asp961=) c.914C= (n.914C=) c.3183C= (p.Asp1061=) c.3192C= (p.Asp1064=) c.2538C= (p.Asp846=) c.2982C= (p.Asp994=) | |
| 9 | g.135784781C>G | CA375518075 | KCNT1 | c.3048C>G (p.Asp1016Glu) c.2889C>G (p.Asp963Glu) c.2796C>G (p.Asp932Glu) c.2805C>G (p.Asp935Glu) c.2949C>G (p.Asp983Glu) c.*2658C>G (n.*2658C>G) c.2931C>G (p.Asp977Glu) c.2991C>G (p.Asp997Glu) c.2985C>G (p.Asp995Glu) n.2867C>G c.2913C>G (p.Asp971Glu) c.2883C>G (p.Asp961Glu) c.914C>G (n.914C>G) c.3183C>G (p.Asp1061Glu) c.3192C>G (p.Asp1064Glu) c.2538C>G (p.Asp846Glu) c.2982C>G (p.Asp994Glu) | |
| 9 | g.135784781C>T | CA5327597 | KCNT1 | c.3048C>T (p.Asp1016=) c.2889C>T (p.Asp963=) c.2796C>T (p.Asp932=) c.2805C>T (p.Asp935=) c.2949C>T (p.Asp983=) c.*2658C>T (n.*2658C>T) c.2931C>T (p.Asp977=) c.2991C>T (p.Asp997=) c.2985C>T (p.Asp995=) n.2867C>T c.2913C>T (p.Asp971=) c.2883C>T (p.Asp961=) c.914C>T (n.914C>T) c.3183C>T (p.Asp1061=) c.3192C>T (p.Asp1064=) c.2538C>T (p.Asp846=) c.2982C>T (p.Asp994=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784782C>A | CA375518076 | KCNT1 | c.3049C>A (p.Leu1017Met) c.2890C>A (p.Leu964Met) c.2797C>A (p.Leu933Met) c.2806C>A (p.Leu936Met) c.2950C>A (p.Leu984Met) c.*2659C>A (n.*2659C>A) c.2932C>A (p.Leu978Met) c.2992C>A (p.Leu998Met) c.2986C>A (p.Leu996Met) n.2868C>A c.2914C>A (p.Leu972Met) c.2884C>A (p.Leu962Met) c.915C>A (n.915C>A) c.3184C>A (p.Leu1062Met) c.3193C>A (p.Leu1065Met) c.2539C>A (p.Leu847Met) c.2983C>A (p.Leu995Met) | |
| 9 | g.135784782C>G | CA375518077 | KCNT1 | c.3049C>G (p.Leu1017Val) c.2890C>G (p.Leu964Val) c.2797C>G (p.Leu933Val) c.2806C>G (p.Leu936Val) c.2950C>G (p.Leu984Val) c.*2659C>G (n.*2659C>G) c.2932C>G (p.Leu978Val) c.2992C>G (p.Leu998Val) c.2986C>G (p.Leu996Val) n.2868C>G c.2914C>G (p.Leu972Val) c.2884C>G (p.Leu962Val) c.915C>G (n.915C>G) c.3184C>G (p.Leu1062Val) c.3193C>G (p.Leu1065Val) c.2539C>G (p.Leu847Val) c.2983C>G (p.Leu995Val) | |
| 9 | g.135784782C>T | CA467820927 | KCNT1 | c.3049C>T (p.Leu1017=) c.2890C>T (p.Leu964=) c.2797C>T (p.Leu933=) c.2806C>T (p.Leu936=) c.2950C>T (p.Leu984=) c.*2659C>T (n.*2659C>T) c.2932C>T (p.Leu978=) c.2992C>T (p.Leu998=) c.2986C>T (p.Leu996=) n.2868C>T c.2914C>T (p.Leu972=) c.2884C>T (p.Leu962=) c.915C>T (n.915C>T) c.3184C>T (p.Leu1062=) c.3193C>T (p.Leu1065=) c.2539C>T (p.Leu847=) c.2983C>T (p.Leu995=) | |
| 9 | g.135784782_135784783delinsCT | CA1883884248 | KCNT1 | c.3049_3050delinsCT (p.Leu1017=) c.2890_2891delinsCT (p.Leu964=) c.2797_2798delinsCT (p.Leu933=) c.2806_2807delinsCT (p.Leu936=) c.2950_2951delinsCT (p.Leu984=) c.*2659_*2660delinsCT (n.*2659_*2660delinsCT) c.2932_2933delinsCT (p.Leu978=) c.2992_2993delinsCT (p.Leu998=) c.2986_2987delinsCT (p.Leu996=) n.2868_2869delinsCT c.2914_2915delinsCT (p.Leu972=) c.2884_2885delinsCT (p.Leu962=) c.915_916delinsCT (n.915_916delinsCT) c.3184_3185delinsCT (p.Leu1062=) c.3193_3194delinsCT (p.Leu1065=) c.2539_2540delinsCT (p.Leu847=) c.2983_2984delinsCT (p.Leu995=) | |
| 9 | g.135784783del | CA860995333 | KCNT1 | c.3050del (p.Leu1017ArgfsTer?) c.2891del (p.Leu964ArgfsTer?) c.2798del (p.Leu933ArgfsTer?) c.2807del (p.Leu936ArgfsTer?) c.2951del (p.Leu984ArgfsTer?) c.*2660del (n.*2660del) c.2933del (p.Leu978ArgfsTer?) c.2993del (p.Leu998ArgfsTer?) c.2987del (p.Leu996ArgfsTer?) n.2869del c.2915del (p.Leu972ArgfsTer?) c.2885del (p.Leu962ArgfsTer?) c.916del (n.916del) c.3185del (p.Leu1062ArgfsTer?) c.3194del (p.Leu1065ArgfsTer?) c.2540del (p.Leu847ArgfsTer?) c.2984del (p.Leu995ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784783T>A | CA375518078 | KCNT1 | c.3050T>A (p.Leu1017Gln) c.2891T>A (p.Leu964Gln) c.2798T>A (p.Leu933Gln) c.2807T>A (p.Leu936Gln) c.2951T>A (p.Leu984Gln) c.*2660T>A (n.*2660T>A) c.2933T>A (p.Leu978Gln) c.2993T>A (p.Leu998Gln) c.2987T>A (p.Leu996Gln) n.2869T>A c.2915T>A (p.Leu972Gln) c.2885T>A (p.Leu962Gln) c.916T>A (n.916T>A) c.3185T>A (p.Leu1062Gln) c.3194T>A (p.Leu1065Gln) c.2540T>A (p.Leu847Gln) c.2984T>A (p.Leu995Gln) | |
| 9 | g.135784783T>C | CA375518079 | KCNT1 | c.3050T>C (p.Leu1017Pro) c.2891T>C (p.Leu964Pro) c.2798T>C (p.Leu933Pro) c.2807T>C (p.Leu936Pro) c.2951T>C (p.Leu984Pro) c.*2660T>C (n.*2660T>C) c.2933T>C (p.Leu978Pro) c.2993T>C (p.Leu998Pro) c.2987T>C (p.Leu996Pro) n.2869T>C c.2915T>C (p.Leu972Pro) c.2885T>C (p.Leu962Pro) c.916T>C (n.916T>C) c.3185T>C (p.Leu1062Pro) c.3194T>C (p.Leu1065Pro) c.2540T>C (p.Leu847Pro) c.2984T>C (p.Leu995Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784783T>G | CA375518080 | KCNT1 | c.3050T>G (p.Leu1017Arg) c.2891T>G (p.Leu964Arg) c.2798T>G (p.Leu933Arg) c.2807T>G (p.Leu936Arg) c.2951T>G (p.Leu984Arg) c.*2660T>G (n.*2660T>G) c.2933T>G (p.Leu978Arg) c.2993T>G (p.Leu998Arg) c.2987T>G (p.Leu996Arg) n.2869T>G c.2915T>G (p.Leu972Arg) c.2885T>G (p.Leu962Arg) c.916T>G (n.916T>G) c.3185T>G (p.Leu1062Arg) c.3194T>G (p.Leu1065Arg) c.2540T>G (p.Leu847Arg) c.2984T>G (p.Leu995Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784783T= | CA1883884259 | KCNT1 | c.3050T= (p.Leu1017=) c.2891T= (p.Leu964=) c.2798T= (p.Leu933=) c.2807T= (p.Leu936=) c.2951T= (p.Leu984=) c.*2660T= (n.*2660T=) c.2933T= (p.Leu978=) c.2993T= (p.Leu998=) c.2987T= (p.Leu996=) n.2869T= c.2915T= (p.Leu972=) c.2885T= (p.Leu962=) c.916T= (n.916T=) c.3185T= (p.Leu1062=) c.3194T= (p.Leu1065=) c.2540T= (p.Leu847=) c.2984T= (p.Leu995=) | |
| 9 | g.135784784G>A | CA467820933 | KCNT1 | c.3051G>A (p.Leu1017=) c.2892G>A (p.Leu964=) c.2799G>A (p.Leu933=) c.2808G>A (p.Leu936=) c.2952G>A (p.Leu984=) c.*2661G>A (n.*2661G>A) c.2934G>A (p.Leu978=) c.2994G>A (p.Leu998=) c.2988G>A (p.Leu996=) n.2870G>A c.2916G>A (p.Leu972=) c.2886G>A (p.Leu962=) c.917G>A (n.917G>A) c.3186G>A (p.Leu1062=) c.3195G>A (p.Leu1065=) c.2541G>A (p.Leu847=) c.2985G>A (p.Leu995=) | |
| 9 | g.135784784G>C | CA467820931 | KCNT1 | c.3051G>C (p.Leu1017=) c.2892G>C (p.Leu964=) c.2799G>C (p.Leu933=) c.2808G>C (p.Leu936=) c.2952G>C (p.Leu984=) c.*2661G>C (n.*2661G>C) c.2934G>C (p.Leu978=) c.2994G>C (p.Leu998=) c.2988G>C (p.Leu996=) n.2870G>C c.2916G>C (p.Leu972=) c.2886G>C (p.Leu962=) c.917G>C (n.917G>C) c.3186G>C (p.Leu1062=) c.3195G>C (p.Leu1065=) c.2541G>C (p.Leu847=) c.2985G>C (p.Leu995=) | |
| 9 | g.135784784G>T | CA467820929 | KCNT1 | c.3051G>T (p.Leu1017=) c.2892G>T (p.Leu964=) c.2799G>T (p.Leu933=) c.2808G>T (p.Leu936=) c.2952G>T (p.Leu984=) c.*2661G>T (n.*2661G>T) c.2934G>T (p.Leu978=) c.2994G>T (p.Leu998=) c.2988G>T (p.Leu996=) n.2870G>T c.2916G>T (p.Leu972=) c.2886G>T (p.Leu962=) c.917G>T (n.917G>T) c.3186G>T (p.Leu1062=) c.3195G>T (p.Leu1065=) c.2541G>T (p.Leu847=) c.2985G>T (p.Leu995=) | |
| 9 | g.135784785T>A | CA375518081 | KCNT1 | c.3052T>A (p.Trp1018Arg) c.2893T>A (p.Trp965Arg) c.2800T>A (p.Trp934Arg) c.2809T>A (p.Trp937Arg) c.2953T>A (p.Trp985Arg) c.*2662T>A (n.*2662T>A) c.2935T>A (p.Trp979Arg) c.2995T>A (p.Trp999Arg) c.2989T>A (p.Trp997Arg) n.2871T>A c.2917T>A (p.Trp973Arg) c.2887T>A (p.Trp963Arg) c.918T>A (n.918T>A) c.3187T>A (p.Trp1063Arg) c.3196T>A (p.Trp1066Arg) c.2542T>A (p.Trp848Arg) c.2986T>A (p.Trp996Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784785T>C | CA375518082 | KCNT1 | c.3052T>C (p.Trp1018Arg) c.2893T>C (p.Trp965Arg) c.2800T>C (p.Trp934Arg) c.2809T>C (p.Trp937Arg) c.2953T>C (p.Trp985Arg) c.*2662T>C (n.*2662T>C) c.2935T>C (p.Trp979Arg) c.2995T>C (p.Trp999Arg) c.2989T>C (p.Trp997Arg) n.2871T>C c.2917T>C (p.Trp973Arg) c.2887T>C (p.Trp963Arg) c.918T>C (n.918T>C) c.3187T>C (p.Trp1063Arg) c.3196T>C (p.Trp1066Arg) c.2542T>C (p.Trp848Arg) c.2986T>C (p.Trp996Arg) | |
| 9 | g.135784785T>G | CA375518083 | KCNT1 | c.3052T>G (p.Trp1018Gly) c.2893T>G (p.Trp965Gly) c.2800T>G (p.Trp934Gly) c.2809T>G (p.Trp937Gly) c.2953T>G (p.Trp985Gly) c.*2662T>G (n.*2662T>G) c.2935T>G (p.Trp979Gly) c.2995T>G (p.Trp999Gly) c.2989T>G (p.Trp997Gly) n.2871T>G c.2917T>G (p.Trp973Gly) c.2887T>G (p.Trp963Gly) c.918T>G (n.918T>G) c.3187T>G (p.Trp1063Gly) c.3196T>G (p.Trp1066Gly) c.2542T>G (p.Trp848Gly) c.2986T>G (p.Trp996Gly) | |
| 9 | g.135784785T= | CA1883884269 | KCNT1 | c.3052T= (p.Trp1018=) c.2893T= (p.Trp965=) c.2800T= (p.Trp934=) c.2809T= (p.Trp937=) c.2953T= (p.Trp985=) c.*2662T= (n.*2662T=) c.2935T= (p.Trp979=) c.2995T= (p.Trp999=) c.2989T= (p.Trp997=) n.2871T= c.2917T= (p.Trp973=) c.2887T= (p.Trp963=) c.918T= (n.918T=) c.3187T= (p.Trp1063=) c.3196T= (p.Trp1066=) c.2542T= (p.Trp848=) c.2986T= (p.Trp996=) | |
| 9 | g.135784786G>A | CA375518084 | KCNT1 | c.3053G>A (p.Trp1018Ter) c.2894G>A (p.Trp965Ter) c.2801G>A (p.Trp934Ter) c.2810G>A (p.Trp937Ter) c.2954G>A (p.Trp985Ter) c.*2663G>A (n.*2663G>A) c.2936G>A (p.Trp979Ter) c.2996G>A (p.Trp999Ter) c.2990G>A (p.Trp997Ter) n.2872G>A c.2918G>A (p.Trp973Ter) c.2888G>A (p.Trp963Ter) c.919G>A (n.919G>A) c.3188G>A (p.Trp1063Ter) c.3197G>A (p.Trp1066Ter) c.2543G>A (p.Trp848Ter) c.2987G>A (p.Trp996Ter) | |
| 9 | g.135784786G>C | CA375518085 | KCNT1 | c.3053G>C (p.Trp1018Ser) c.2894G>C (p.Trp965Ser) c.2801G>C (p.Trp934Ser) c.2810G>C (p.Trp937Ser) c.2954G>C (p.Trp985Ser) c.*2663G>C (n.*2663G>C) c.2936G>C (p.Trp979Ser) c.2996G>C (p.Trp999Ser) c.2990G>C (p.Trp997Ser) n.2872G>C c.2918G>C (p.Trp973Ser) c.2888G>C (p.Trp963Ser) c.919G>C (n.919G>C) c.3188G>C (p.Trp1063Ser) c.3197G>C (p.Trp1066Ser) c.2543G>C (p.Trp848Ser) c.2987G>C (p.Trp996Ser) | |
| 9 | g.135784786G>T | CA375518086 | KCNT1 | c.3053G>T (p.Trp1018Leu) c.2894G>T (p.Trp965Leu) c.2801G>T (p.Trp934Leu) c.2810G>T (p.Trp937Leu) c.2954G>T (p.Trp985Leu) c.*2663G>T (n.*2663G>T) c.2936G>T (p.Trp979Leu) c.2996G>T (p.Trp999Leu) c.2990G>T (p.Trp997Leu) n.2872G>T c.2918G>T (p.Trp973Leu) c.2888G>T (p.Trp963Leu) c.919G>T (n.919G>T) c.3188G>T (p.Trp1063Leu) c.3197G>T (p.Trp1066Leu) c.2543G>T (p.Trp848Leu) c.2987G>T (p.Trp996Leu) | |
| 9 | g.135784787G>A | CA375518089 | KCNT1 | c.3054G>A (p.Trp1018Ter) c.2895G>A (p.Trp965Ter) c.2802G>A (p.Trp934Ter) c.2811G>A (p.Trp937Ter) c.2955G>A (p.Trp985Ter) c.*2664G>A (n.*2664G>A) c.2937G>A (p.Trp979Ter) c.2997G>A (p.Trp999Ter) c.2991G>A (p.Trp997Ter) n.2873G>A c.2919G>A (p.Trp973Ter) c.2889G>A (p.Trp963Ter) c.920G>A (n.920G>A) c.3189G>A (p.Trp1063Ter) c.3198G>A (p.Trp1066Ter) c.2544G>A (p.Trp848Ter) c.2988G>A (p.Trp996Ter) | |
| 9 | g.135784787G>C | CA375518088 | KCNT1 | c.3054G>C (p.Trp1018Cys) c.2895G>C (p.Trp965Cys) c.2802G>C (p.Trp934Cys) c.2811G>C (p.Trp937Cys) c.2955G>C (p.Trp985Cys) c.*2664G>C (n.*2664G>C) c.2937G>C (p.Trp979Cys) c.2997G>C (p.Trp999Cys) c.2991G>C (p.Trp997Cys) n.2873G>C c.2919G>C (p.Trp973Cys) c.2889G>C (p.Trp963Cys) c.920G>C (n.920G>C) c.3189G>C (p.Trp1063Cys) c.3198G>C (p.Trp1066Cys) c.2544G>C (p.Trp848Cys) c.2988G>C (p.Trp996Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784787G= | CA1883884272 | KCNT1 | c.3054G= (p.Trp1018=) c.2895G= (p.Trp965=) c.2802G= (p.Trp934=) c.2811G= (p.Trp937=) c.2955G= (p.Trp985=) c.*2664G= (n.*2664G=) c.2937G= (p.Trp979=) c.2997G= (p.Trp999=) c.2991G= (p.Trp997=) n.2873G= c.2919G= (p.Trp973=) c.2889G= (p.Trp963=) c.920G= (n.920G=) c.3189G= (p.Trp1063=) c.3198G= (p.Trp1066=) c.2544G= (p.Trp848=) c.2988G= (p.Trp996=) | |
| 9 | g.135784787G>T | CA375518087 | KCNT1 | c.3054G>T (p.Trp1018Cys) c.2895G>T (p.Trp965Cys) c.2802G>T (p.Trp934Cys) c.2811G>T (p.Trp937Cys) c.2955G>T (p.Trp985Cys) c.*2664G>T (n.*2664G>T) c.2937G>T (p.Trp979Cys) c.2997G>T (p.Trp999Cys) c.2991G>T (p.Trp997Cys) n.2873G>T c.2919G>T (p.Trp973Cys) c.2889G>T (p.Trp963Cys) c.920G>T (n.920G>T) c.3189G>T (p.Trp1063Cys) c.3198G>T (p.Trp1066Cys) c.2544G>T (p.Trp848Cys) c.2988G>T (p.Trp996Cys) | |
| 9 | g.135784788A>C | CA375518090 | KCNT1 | c.3055A>C (p.Ile1019Leu) c.2896A>C (p.Ile966Leu) c.2803A>C (p.Ile935Leu) c.2812A>C (p.Ile938Leu) c.2956A>C (p.Ile986Leu) c.*2665A>C (n.*2665A>C) c.2938A>C (p.Ile980Leu) c.2998A>C (p.Ile1000Leu) c.2992A>C (p.Ile998Leu) n.2874A>C c.2920A>C (p.Ile974Leu) c.2890A>C (p.Ile964Leu) c.921A>C (n.921A>C) c.3190A>C (p.Ile1064Leu) c.3199A>C (p.Ile1067Leu) c.2545A>C (p.Ile849Leu) c.2989A>C (p.Ile997Leu) | |
| 9 | g.135784788A>G | CA375518091 | KCNT1 | c.3055A>G (p.Ile1019Val) c.2896A>G (p.Ile966Val) c.2803A>G (p.Ile935Val) c.2812A>G (p.Ile938Val) c.2956A>G (p.Ile986Val) c.*2665A>G (n.*2665A>G) c.2938A>G (p.Ile980Val) c.2998A>G (p.Ile1000Val) c.2992A>G (p.Ile998Val) n.2874A>G c.2920A>G (p.Ile974Val) c.2890A>G (p.Ile964Val) c.921A>G (n.921A>G) c.3190A>G (p.Ile1064Val) c.3199A>G (p.Ile1067Val) c.2545A>G (p.Ile849Val) c.2989A>G (p.Ile997Val) | |
| 9 | g.135784788A>T | CA375518092 | KCNT1 | c.3055A>T (p.Ile1019Phe) c.2896A>T (p.Ile966Phe) c.2803A>T (p.Ile935Phe) c.2812A>T (p.Ile938Phe) c.2956A>T (p.Ile986Phe) c.*2665A>T (n.*2665A>T) c.2938A>T (p.Ile980Phe) c.2998A>T (p.Ile1000Phe) c.2992A>T (p.Ile998Phe) n.2874A>T c.2920A>T (p.Ile974Phe) c.2890A>T (p.Ile964Phe) c.921A>T (n.921A>T) c.3190A>T (p.Ile1064Phe) c.3199A>T (p.Ile1067Phe) c.2545A>T (p.Ile849Phe) c.2989A>T (p.Ile997Phe) | |
| 9 | g.135784789T>A | CA375518093 | KCNT1 | c.3056T>A (p.Ile1019Asn) c.2897T>A (p.Ile966Asn) c.2804T>A (p.Ile935Asn) c.2813T>A (p.Ile938Asn) c.2957T>A (p.Ile986Asn) c.*2666T>A (n.*2666T>A) c.2939T>A (p.Ile980Asn) c.2999T>A (p.Ile1000Asn) c.2993T>A (p.Ile998Asn) n.2875T>A c.2921T>A (p.Ile974Asn) c.2891T>A (p.Ile964Asn) c.922T>A (n.922T>A) c.3191T>A (p.Ile1064Asn) c.3200T>A (p.Ile1067Asn) c.2546T>A (p.Ile849Asn) c.2990T>A (p.Ile997Asn) | |
| 9 | g.135784789T>C | CA201483760 | KCNT1 | c.3056T>C (p.Ile1019Thr) c.2897T>C (p.Ile966Thr) c.2804T>C (p.Ile935Thr) c.2813T>C (p.Ile938Thr) c.2957T>C (p.Ile986Thr) c.*2666T>C (n.*2666T>C) c.2939T>C (p.Ile980Thr) c.2999T>C (p.Ile1000Thr) c.2993T>C (p.Ile998Thr) n.2875T>C c.2921T>C (p.Ile974Thr) c.2891T>C (p.Ile964Thr) c.922T>C (n.922T>C) c.3191T>C (p.Ile1064Thr) c.3200T>C (p.Ile1067Thr) c.2546T>C (p.Ile849Thr) c.2990T>C (p.Ile997Thr) | dbSNP |
| 9 | g.135784789T>G | CA375518094 | KCNT1 | c.3056T>G (p.Ile1019Ser) c.2897T>G (p.Ile966Ser) c.2804T>G (p.Ile935Ser) c.2813T>G (p.Ile938Ser) c.2957T>G (p.Ile986Ser) c.*2666T>G (n.*2666T>G) c.2939T>G (p.Ile980Ser) c.2999T>G (p.Ile1000Ser) c.2993T>G (p.Ile998Ser) n.2875T>G c.2921T>G (p.Ile974Ser) c.2891T>G (p.Ile964Ser) c.922T>G (n.922T>G) c.3191T>G (p.Ile1064Ser) c.3200T>G (p.Ile1067Ser) c.2546T>G (p.Ile849Ser) c.2990T>G (p.Ile997Ser) | |
| 9 | g.135784789T= | CA1883884280 | KCNT1 | c.3056T= (p.Ile1019=) c.2897T= (p.Ile966=) c.2804T= (p.Ile935=) c.2813T= (p.Ile938=) c.2957T= (p.Ile986=) c.*2666T= (n.*2666T=) c.2939T= (p.Ile980=) c.2999T= (p.Ile1000=) c.2993T= (p.Ile998=) n.2875T= c.2921T= (p.Ile974=) c.2891T= (p.Ile964=) c.922T= (n.922T=) c.3191T= (p.Ile1064=) c.3200T= (p.Ile1067=) c.2546T= (p.Ile849=) c.2990T= (p.Ile997=) | |
| 9 | g.135784790C>A | CA467820938 | KCNT1 | c.3057C>A (p.Ile1019=) c.2898C>A (p.Ile966=) c.2805C>A (p.Ile935=) c.2814C>A (p.Ile938=) c.2958C>A (p.Ile986=) c.*2667C>A (n.*2667C>A) c.2940C>A (p.Ile980=) c.3000C>A (p.Ile1000=) c.2994C>A (p.Ile998=) n.2876C>A c.2922C>A (p.Ile974=) c.2892C>A (p.Ile964=) c.923C>A (n.923C>A) c.3192C>A (p.Ile1064=) c.3201C>A (p.Ile1067=) c.2547C>A (p.Ile849=) c.2991C>A (p.Ile997=) | gnomAD v4 |
| 9 | g.135784790C>G | CA375518095 | KCNT1 | c.3057C>G (p.Ile1019Met) c.2898C>G (p.Ile966Met) c.2805C>G (p.Ile935Met) c.2814C>G (p.Ile938Met) c.2958C>G (p.Ile986Met) c.*2667C>G (n.*2667C>G) c.2940C>G (p.Ile980Met) c.3000C>G (p.Ile1000Met) c.2994C>G (p.Ile998Met) n.2876C>G c.2922C>G (p.Ile974Met) c.2892C>G (p.Ile964Met) c.923C>G (n.923C>G) c.3192C>G (p.Ile1064Met) c.3201C>G (p.Ile1067Met) c.2547C>G (p.Ile849Met) c.2991C>G (p.Ile997Met) | |
| 9 | g.135784790C>T | CA467820939 | KCNT1 | c.3057C>T (p.Ile1019=) c.2898C>T (p.Ile966=) c.2805C>T (p.Ile935=) c.2814C>T (p.Ile938=) c.2958C>T (p.Ile986=) c.*2667C>T (n.*2667C>T) c.2940C>T (p.Ile980=) c.3000C>T (p.Ile1000=) c.2994C>T (p.Ile998=) n.2876C>T c.2922C>T (p.Ile974=) c.2892C>T (p.Ile964=) c.923C>T (n.923C>T) c.3192C>T (p.Ile1064=) c.3201C>T (p.Ile1067=) c.2547C>T (p.Ile849=) c.2991C>T (p.Ile997=) | COSMIC COSMIC |
| 9 | g.135784791C>A | CA375518096 | KCNT1 | c.3058C>A (p.Arg1020Ser) c.2899C>A (p.Arg967Ser) c.2806C>A (p.Arg936Ser) c.2815C>A (p.Arg939Ser) c.2959C>A (p.Arg987Ser) c.*2668C>A (n.*2668C>A) c.2941C>A (p.Arg981Ser) c.3001C>A (p.Arg1001Ser) c.2995C>A (p.Arg999Ser) n.2877C>A c.2923C>A (p.Arg975Ser) c.2893C>A (p.Arg965Ser) c.924C>A (n.924C>A) c.3193C>A (p.Arg1065Ser) c.3202C>A (p.Arg1068Ser) c.2548C>A (p.Arg850Ser) c.2992C>A (p.Arg998Ser) | |
| 9 | g.135784791C= | CA1883884286 | KCNT1 | c.3058C= (p.Arg1020=) c.2899C= (p.Arg967=) c.2806C= (p.Arg936=) c.2815C= (p.Arg939=) c.2959C= (p.Arg987=) c.*2668C= (n.*2668C=) c.2941C= (p.Arg981=) c.3001C= (p.Arg1001=) c.2995C= (p.Arg999=) n.2877C= c.2923C= (p.Arg975=) c.2893C= (p.Arg965=) c.924C= (n.924C=) c.3193C= (p.Arg1065=) c.3202C= (p.Arg1068=) c.2548C= (p.Arg850=) c.2992C= (p.Arg998=) | |
| 9 | g.135784791C>G | CA375518097 | KCNT1 | c.3058C>G (p.Arg1020Gly) c.2899C>G (p.Arg967Gly) c.2806C>G (p.Arg936Gly) c.2815C>G (p.Arg939Gly) c.2959C>G (p.Arg987Gly) c.*2668C>G (n.*2668C>G) c.2941C>G (p.Arg981Gly) c.3001C>G (p.Arg1001Gly) c.2995C>G (p.Arg999Gly) n.2877C>G c.2923C>G (p.Arg975Gly) c.2893C>G (p.Arg965Gly) c.924C>G (n.924C>G) c.3193C>G (p.Arg1065Gly) c.3202C>G (p.Arg1068Gly) c.2548C>G (p.Arg850Gly) c.2992C>G (p.Arg998Gly) | |
| 9 | g.135784791C>T | CA5327598 | KCNT1 | c.3058C>T (p.Arg1020Cys) c.2899C>T (p.Arg967Cys) c.2806C>T (p.Arg936Cys) c.2815C>T (p.Arg939Cys) c.2959C>T (p.Arg987Cys) c.*2668C>T (n.*2668C>T) c.2941C>T (p.Arg981Cys) c.3001C>T (p.Arg1001Cys) c.2995C>T (p.Arg999Cys) n.2877C>T c.2923C>T (p.Arg975Cys) c.2893C>T (p.Arg965Cys) c.924C>T (n.924C>T) c.3193C>T (p.Arg1065Cys) c.3202C>T (p.Arg1068Cys) c.2548C>T (p.Arg850Cys) c.2992C>T (p.Arg998Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784792G>A | CA5327599 | KCNT1 | c.3059G>A (p.Arg1020His) c.2900G>A (p.Arg967His) c.2807G>A (p.Arg936His) c.2816G>A (p.Arg939His) c.2960G>A (p.Arg987His) c.*2669G>A (n.*2669G>A) c.2942G>A (p.Arg981His) c.3002G>A (p.Arg1001His) c.2996G>A (p.Arg999His) n.2878G>A c.2924G>A (p.Arg975His) c.2894G>A (p.Arg965His) c.925G>A (n.925G>A) c.3194G>A (p.Arg1065His) c.3203G>A (p.Arg1068His) c.2549G>A (p.Arg850His) c.2993G>A (p.Arg998His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.135784792G>C | CA375518098 | KCNT1 | c.3059G>C (p.Arg1020Pro) c.2900G>C (p.Arg967Pro) c.2807G>C (p.Arg936Pro) c.2816G>C (p.Arg939Pro) c.2960G>C (p.Arg987Pro) c.*2669G>C (n.*2669G>C) c.2942G>C (p.Arg981Pro) c.3002G>C (p.Arg1001Pro) c.2996G>C (p.Arg999Pro) n.2878G>C c.2924G>C (p.Arg975Pro) c.2894G>C (p.Arg965Pro) c.925G>C (n.925G>C) c.3194G>C (p.Arg1065Pro) c.3203G>C (p.Arg1068Pro) c.2549G>C (p.Arg850Pro) c.2993G>C (p.Arg998Pro) | |
| 9 | g.135784792G= | CA1883884291 | KCNT1 | c.3059G= (p.Arg1020=) c.2900G= (p.Arg967=) c.2807G= (p.Arg936=) c.2816G= (p.Arg939=) c.2960G= (p.Arg987=) c.*2669G= (n.*2669G=) c.2942G= (p.Arg981=) c.3002G= (p.Arg1001=) c.2996G= (p.Arg999=) n.2878G= c.2924G= (p.Arg975=) c.2894G= (p.Arg965=) c.925G= (n.925G=) c.3194G= (p.Arg1065=) c.3203G= (p.Arg1068=) c.2549G= (p.Arg850=) c.2993G= (p.Arg998=) | |
| 9 | g.135784792G>T | CA375518099 | KCNT1 | c.3059G>T (p.Arg1020Leu) c.2900G>T (p.Arg967Leu) c.2807G>T (p.Arg936Leu) c.2816G>T (p.Arg939Leu) c.2960G>T (p.Arg987Leu) c.*2669G>T (n.*2669G>T) c.2942G>T (p.Arg981Leu) c.3002G>T (p.Arg1001Leu) c.2996G>T (p.Arg999Leu) n.2878G>T c.2924G>T (p.Arg975Leu) c.2894G>T (p.Arg965Leu) c.925G>T (n.925G>T) c.3194G>T (p.Arg1065Leu) c.3203G>T (p.Arg1068Leu) c.2549G>T (p.Arg850Leu) c.2993G>T (p.Arg998Leu) | |
| 9 | g.135784793C>A | CA5327601 | KCNT1 | c.3060C>A (p.Arg1020=) c.2901C>A (p.Arg967=) c.2808C>A (p.Arg936=) c.2817C>A (p.Arg939=) c.2961C>A (p.Arg987=) c.*2670C>A (n.*2670C>A) c.2943C>A (p.Arg981=) c.3003C>A (p.Arg1001=) c.2997C>A (p.Arg999=) n.2879C>A c.2925C>A (p.Arg975=) c.2895C>A (p.Arg965=) c.926C>A (n.926C>A) c.3195C>A (p.Arg1065=) c.3204C>A (p.Arg1068=) c.2550C>A (p.Arg850=) c.2994C>A (p.Arg998=) | dbSNP ExAC gnomAD v2 |
| 9 | g.135784793C= | CA1883884296 | KCNT1 | c.3060C= (p.Arg1020=) c.2901C= (p.Arg967=) c.2808C= (p.Arg936=) c.2817C= (p.Arg939=) c.2961C= (p.Arg987=) c.*2670C= (n.*2670C=) c.2943C= (p.Arg981=) c.3003C= (p.Arg1001=) c.2997C= (p.Arg999=) n.2879C= c.2925C= (p.Arg975=) c.2895C= (p.Arg965=) c.926C= (n.926C=) c.3195C= (p.Arg1065=) c.3204C= (p.Arg1068=) c.2550C= (p.Arg850=) c.2994C= (p.Arg998=) | |
| 9 | g.135784793C>G | CA467820944 | KCNT1 | c.3060C>G (p.Arg1020=) c.2901C>G (p.Arg967=) c.2808C>G (p.Arg936=) c.2817C>G (p.Arg939=) c.2961C>G (p.Arg987=) c.*2670C>G (n.*2670C>G) c.2943C>G (p.Arg981=) c.3003C>G (p.Arg1001=) c.2997C>G (p.Arg999=) n.2879C>G c.2925C>G (p.Arg975=) c.2895C>G (p.Arg965=) c.926C>G (n.926C>G) c.3195C>G (p.Arg1065=) c.3204C>G (p.Arg1068=) c.2550C>G (p.Arg850=) c.2994C>G (p.Arg998=) | |
| 9 | g.135784793C>T | CA5327600 | KCNT1 | c.3060C>T (p.Arg1020=) c.2901C>T (p.Arg967=) c.2808C>T (p.Arg936=) c.2817C>T (p.Arg939=) c.2961C>T (p.Arg987=) c.*2670C>T (n.*2670C>T) c.2943C>T (p.Arg981=) c.3003C>T (p.Arg1001=) c.2997C>T (p.Arg999=) n.2879C>T c.2925C>T (p.Arg975=) c.2895C>T (p.Arg965=) c.926C>T (n.926C>T) c.3195C>T (p.Arg1065=) c.3204C>T (p.Arg1068=) c.2550C>T (p.Arg850=) c.2994C>T (p.Arg998=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784794A>C | CA375518100 | KCNT1 | c.3061A>C (p.Thr1021Pro) c.2902A>C (p.Thr968Pro) c.2809A>C (p.Thr937Pro) c.2818A>C (p.Thr940Pro) c.2962A>C (p.Thr988Pro) c.*2671A>C (n.*2671A>C) c.2944A>C (p.Thr982Pro) c.3004A>C (p.Thr1002Pro) c.2998A>C (p.Thr1000Pro) n.2880A>C c.2926A>C (p.Thr976Pro) c.2896A>C (p.Thr966Pro) c.927A>C (n.927A>C) c.3196A>C (p.Thr1066Pro) c.3205A>C (p.Thr1069Pro) c.2551A>C (p.Thr851Pro) c.2995A>C (p.Thr999Pro) | |
| 9 | g.135784794A>G | CA375518101 | KCNT1 | c.3061A>G (p.Thr1021Ala) c.2902A>G (p.Thr968Ala) c.2809A>G (p.Thr937Ala) c.2818A>G (p.Thr940Ala) c.2962A>G (p.Thr988Ala) c.*2671A>G (n.*2671A>G) c.2944A>G (p.Thr982Ala) c.3004A>G (p.Thr1002Ala) c.2998A>G (p.Thr1000Ala) n.2880A>G c.2926A>G (p.Thr976Ala) c.2896A>G (p.Thr966Ala) c.927A>G (n.927A>G) c.3196A>G (p.Thr1066Ala) c.3205A>G (p.Thr1069Ala) c.2551A>G (p.Thr851Ala) c.2995A>G (p.Thr999Ala) | |
| 9 | g.135784794A>T | CA375518102 | KCNT1 | c.3061A>T (p.Thr1021Ser) c.2902A>T (p.Thr968Ser) c.2809A>T (p.Thr937Ser) c.2818A>T (p.Thr940Ser) c.2962A>T (p.Thr988Ser) c.*2671A>T (n.*2671A>T) c.2944A>T (p.Thr982Ser) c.3004A>T (p.Thr1002Ser) c.2998A>T (p.Thr1000Ser) n.2880A>T c.2926A>T (p.Thr976Ser) c.2896A>T (p.Thr966Ser) c.927A>T (n.927A>T) c.3196A>T (p.Thr1066Ser) c.3205A>T (p.Thr1069Ser) c.2551A>T (p.Thr851Ser) c.2995A>T (p.Thr999Ser) | |
| 9 | g.135784795C>A | CA375518103 | KCNT1 | c.3062C>A (p.Thr1021Lys) c.2903C>A (p.Thr968Lys) c.2810C>A (p.Thr937Lys) c.2819C>A (p.Thr940Lys) c.2963C>A (p.Thr988Lys) c.*2672C>A (n.*2672C>A) c.2945C>A (p.Thr982Lys) c.3005C>A (p.Thr1002Lys) c.2999C>A (p.Thr1000Lys) n.2881C>A c.2927C>A (p.Thr976Lys) c.2897C>A (p.Thr966Lys) c.928C>A (n.928C>A) c.3197C>A (p.Thr1066Lys) c.3206C>A (p.Thr1069Lys) c.2552C>A (p.Thr851Lys) c.2996C>A (p.Thr999Lys) | dbSNP gnomAD v4 |
| 9 | g.135784795C= | CA1883884299 | KCNT1 | c.3062C= (p.Thr1021=) c.2903C= (p.Thr968=) c.2810C= (p.Thr937=) c.2819C= (p.Thr940=) c.2963C= (p.Thr988=) c.*2672C= (n.*2672C=) c.2945C= (p.Thr982=) c.3005C= (p.Thr1002=) c.2999C= (p.Thr1000=) n.2881C= c.2927C= (p.Thr976=) c.2897C= (p.Thr966=) c.928C= (n.928C=) c.3197C= (p.Thr1066=) c.3206C= (p.Thr1069=) c.2552C= (p.Thr851=) c.2996C= (p.Thr999=) | |
| 9 | g.135784795C>G | CA5327602 | KCNT1 | c.3062C>G (p.Thr1021Arg) c.2903C>G (p.Thr968Arg) c.2810C>G (p.Thr937Arg) c.2819C>G (p.Thr940Arg) c.2963C>G (p.Thr988Arg) c.*2672C>G (n.*2672C>G) c.2945C>G (p.Thr982Arg) c.3005C>G (p.Thr1002Arg) c.2999C>G (p.Thr1000Arg) n.2881C>G c.2927C>G (p.Thr976Arg) c.2897C>G (p.Thr966Arg) c.928C>G (n.928C>G) c.3197C>G (p.Thr1066Arg) c.3206C>G (p.Thr1069Arg) c.2552C>G (p.Thr851Arg) c.2996C>G (p.Thr999Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135784795C>T | CA375518104 | KCNT1 | c.3062C>T (p.Thr1021Met) c.2903C>T (p.Thr968Met) c.2810C>T (p.Thr937Met) c.2819C>T (p.Thr940Met) c.2963C>T (p.Thr988Met) c.*2672C>T (n.*2672C>T) c.2945C>T (p.Thr982Met) c.3005C>T (p.Thr1002Met) c.2999C>T (p.Thr1000Met) n.2881C>T c.2927C>T (p.Thr976Met) c.2897C>T (p.Thr966Met) c.928C>T (n.928C>T) c.3197C>T (p.Thr1066Met) c.3206C>T (p.Thr1069Met) c.2552C>T (p.Thr851Met) c.2996C>T (p.Thr999Met) | dbSNP gnomAD v4 |
| 9 | g.135784796G>A | CA5327603 | KCNT1 | c.3063G>A (p.Thr1021=) c.2904G>A (p.Thr968=) c.2811G>A (p.Thr937=) c.2820G>A (p.Thr940=) c.2964G>A (p.Thr988=) c.*2673G>A (n.*2673G>A) c.2946G>A (p.Thr982=) c.3006G>A (p.Thr1002=) c.3000G>A (p.Thr1000=) n.2882G>A c.2928G>A (p.Thr976=) c.2898G>A (p.Thr966=) c.929G>A (n.929G>A) c.3198G>A (p.Thr1066=) c.3207G>A (p.Thr1069=) c.2553G>A (p.Thr851=) c.2997G>A (p.Thr999=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.135784796G>C | CA467820946 | KCNT1 | c.3063G>C (p.Thr1021=) c.2904G>C (p.Thr968=) c.2811G>C (p.Thr937=) c.2820G>C (p.Thr940=) c.2964G>C (p.Thr988=) c.*2673G>C (n.*2673G>C) c.2946G>C (p.Thr982=) c.3006G>C (p.Thr1002=) c.3000G>C (p.Thr1000=) n.2882G>C c.2928G>C (p.Thr976=) c.2898G>C (p.Thr966=) c.929G>C (n.929G>C) c.3198G>C (p.Thr1066=) c.3207G>C (p.Thr1069=) c.2553G>C (p.Thr851=) c.2997G>C (p.Thr999=) | |
| 9 | g.135784796G= | CA1883884308 | KCNT1 | c.3063G= (p.Thr1021=) c.2904G= (p.Thr968=) c.2811G= (p.Thr937=) c.2820G= (p.Thr940=) c.2964G= (p.Thr988=) c.*2673G= (n.*2673G=) c.2946G= (p.Thr982=) c.3006G= (p.Thr1002=) c.3000G= (p.Thr1000=) n.2882G= c.2928G= (p.Thr976=) c.2898G= (p.Thr966=) c.929G= (n.929G=) c.3198G= (p.Thr1066=) c.3207G= (p.Thr1069=) c.2553G= (p.Thr851=) c.2997G= (p.Thr999=) | |
| 9 | g.135784796G>T | CA467820947 | KCNT1 | c.3063G>T (p.Thr1021=) c.2904G>T (p.Thr968=) c.2811G>T (p.Thr937=) c.2820G>T (p.Thr940=) c.2964G>T (p.Thr988=) c.*2673G>T (n.*2673G>T) c.2946G>T (p.Thr982=) c.3006G>T (p.Thr1002=) c.3000G>T (p.Thr1000=) n.2882G>T c.2928G>T (p.Thr976=) c.2898G>T (p.Thr966=) c.929G>T (n.929G>T) c.3198G>T (p.Thr1066=) c.3207G>T (p.Thr1069=) c.2553G>T (p.Thr851=) c.2997G>T (p.Thr999=) | |
| 9 | g.135784797T>A | CA375518105 | KCNT1 | c.3064T>A (p.Tyr1022Asn) c.2905T>A (p.Tyr969Asn) c.2812T>A (p.Tyr938Asn) c.2821T>A (p.Tyr941Asn) c.2965T>A (p.Tyr989Asn) c.*2674T>A (n.*2674T>A) c.2947T>A (p.Tyr983Asn) c.3007T>A (p.Tyr1003Asn) c.3001T>A (p.Tyr1001Asn) n.2883T>A c.2929T>A (p.Tyr977Asn) c.2899T>A (p.Tyr967Asn) c.930T>A (n.930T>A) c.3199T>A (p.Tyr1067Asn) c.3208T>A (p.Tyr1070Asn) c.2554T>A (p.Tyr852Asn) c.2998T>A (p.Tyr1000Asn) | |
| 9 | g.135784797T>C | CA375518106 | KCNT1 | c.3064T>C (p.Tyr1022His) c.2905T>C (p.Tyr969His) c.2812T>C (p.Tyr938His) c.2821T>C (p.Tyr941His) c.2965T>C (p.Tyr989His) c.*2674T>C (n.*2674T>C) c.2947T>C (p.Tyr983His) c.3007T>C (p.Tyr1003His) c.3001T>C (p.Tyr1001His) n.2883T>C c.2929T>C (p.Tyr977His) c.2899T>C (p.Tyr967His) c.930T>C (n.930T>C) c.3199T>C (p.Tyr1067His) c.3208T>C (p.Tyr1070His) c.2554T>C (p.Tyr852His) c.2998T>C (p.Tyr1000His) | |
| 9 | g.135784797T>G | CA375518107 | KCNT1 | c.3064T>G (p.Tyr1022Asp) c.2905T>G (p.Tyr969Asp) c.2812T>G (p.Tyr938Asp) c.2821T>G (p.Tyr941Asp) c.2965T>G (p.Tyr989Asp) c.*2674T>G (n.*2674T>G) c.2947T>G (p.Tyr983Asp) c.3007T>G (p.Tyr1003Asp) c.3001T>G (p.Tyr1001Asp) n.2883T>G c.2929T>G (p.Tyr977Asp) c.2899T>G (p.Tyr967Asp) c.930T>G (n.930T>G) c.3199T>G (p.Tyr1067Asp) c.3208T>G (p.Tyr1070Asp) c.2554T>G (p.Tyr852Asp) c.2998T>G (p.Tyr1000Asp) | |
| 9 | g.135784798A>C | CA375518108 | KCNT1 | c.3065A>C (p.Tyr1022Ser) c.2906A>C (p.Tyr969Ser) c.2813A>C (p.Tyr938Ser) c.2822A>C (p.Tyr941Ser) c.2966A>C (p.Tyr989Ser) c.*2675A>C (n.*2675A>C) c.2948A>C (p.Tyr983Ser) c.3008A>C (p.Tyr1003Ser) c.3002A>C (p.Tyr1001Ser) n.2884A>C c.2930A>C (p.Tyr977Ser) c.2900A>C (p.Tyr967Ser) c.931A>C (n.931A>C) c.3200A>C (p.Tyr1067Ser) c.3209A>C (p.Tyr1070Ser) c.2555A>C (p.Tyr852Ser) c.2999A>C (p.Tyr1000Ser) | |
| 9 | g.135784798A>G | CA375518109 | KCNT1 | c.3065A>G (p.Tyr1022Cys) c.2906A>G (p.Tyr969Cys) c.2813A>G (p.Tyr938Cys) c.2822A>G (p.Tyr941Cys) c.2966A>G (p.Tyr989Cys) c.*2675A>G (n.*2675A>G) c.2948A>G (p.Tyr983Cys) c.3008A>G (p.Tyr1003Cys) c.3002A>G (p.Tyr1001Cys) n.2884A>G c.2930A>G (p.Tyr977Cys) c.2900A>G (p.Tyr967Cys) c.931A>G (n.931A>G) c.3200A>G (p.Tyr1067Cys) c.3209A>G (p.Tyr1070Cys) c.2555A>G (p.Tyr852Cys) c.2999A>G (p.Tyr1000Cys) | |
| 9 | g.135784798A>T | CA375518110 | KCNT1 | c.3065A>T (p.Tyr1022Phe) c.2906A>T (p.Tyr969Phe) c.2813A>T (p.Tyr938Phe) c.2822A>T (p.Tyr941Phe) c.2966A>T (p.Tyr989Phe) c.*2675A>T (n.*2675A>T) c.2948A>T (p.Tyr983Phe) c.3008A>T (p.Tyr1003Phe) c.3002A>T (p.Tyr1001Phe) n.2884A>T c.2930A>T (p.Tyr977Phe) c.2900A>T (p.Tyr967Phe) c.931A>T (n.931A>T) c.3200A>T (p.Tyr1067Phe) c.3209A>T (p.Tyr1070Phe) c.2555A>T (p.Tyr852Phe) c.2999A>T (p.Tyr1000Phe) | |
| 9 | g.135784799C>A | CA375518112 | KCNT1 | c.3066C>A (p.Tyr1022Ter) c.2907C>A (p.Tyr969Ter) c.2814C>A (p.Tyr938Ter) c.2823C>A (p.Tyr941Ter) c.2967C>A (p.Tyr989Ter) c.*2676C>A (n.*2676C>A) c.2949C>A (p.Tyr983Ter) c.3009C>A (p.Tyr1003Ter) c.3003C>A (p.Tyr1001Ter) n.2885C>A c.2931C>A (p.Tyr977Ter) c.2901C>A (p.Tyr967Ter) c.932C>A (n.932C>A) c.3201C>A (p.Tyr1067Ter) c.3210C>A (p.Tyr1070Ter) c.2556C>A (p.Tyr852Ter) c.3000C>A (p.Tyr1000Ter) | |
| 9 | g.135784799C= | CA1883884313 | KCNT1 | c.3066C= (p.Tyr1022=) c.2907C= (p.Tyr969=) c.2814C= (p.Tyr938=) c.2823C= (p.Tyr941=) c.2967C= (p.Tyr989=) c.*2676C= (n.*2676C=) c.2949C= (p.Tyr983=) c.3009C= (p.Tyr1003=) c.3003C= (p.Tyr1001=) n.2885C= c.2931C= (p.Tyr977=) c.2901C= (p.Tyr967=) c.932C= (n.932C=) c.3201C= (p.Tyr1067=) c.3210C= (p.Tyr1070=) c.2556C= (p.Tyr852=) c.3000C= (p.Tyr1000=) | |
| 9 | g.135784799C>G | CA375518111 | KCNT1 | c.3066C>G (p.Tyr1022Ter) c.2907C>G (p.Tyr969Ter) c.2814C>G (p.Tyr938Ter) c.2823C>G (p.Tyr941Ter) c.2967C>G (p.Tyr989Ter) c.*2676C>G (n.*2676C>G) c.2949C>G (p.Tyr983Ter) c.3009C>G (p.Tyr1003Ter) c.3003C>G (p.Tyr1001Ter) n.2885C>G c.2931C>G (p.Tyr977Ter) c.2901C>G (p.Tyr967Ter) c.932C>G (n.932C>G) c.3201C>G (p.Tyr1067Ter) c.3210C>G (p.Tyr1070Ter) c.2556C>G (p.Tyr852Ter) c.3000C>G (p.Tyr1000Ter) | |
| 9 | g.135784799C>T | CA5327604 | KCNT1 | c.3066C>T (p.Tyr1022=) c.2907C>T (p.Tyr969=) c.2814C>T (p.Tyr938=) c.2823C>T (p.Tyr941=) c.2967C>T (p.Tyr989=) c.*2676C>T (n.*2676C>T) c.2949C>T (p.Tyr983=) c.3009C>T (p.Tyr1003=) c.3003C>T (p.Tyr1001=) n.2885C>T c.2931C>T (p.Tyr977=) c.2901C>T (p.Tyr967=) c.932C>T (n.932C>T) c.3201C>T (p.Tyr1067=) c.3210C>T (p.Tyr1070=) c.2556C>T (p.Tyr852=) c.3000C>T (p.Tyr1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135784800G>A | CA5327605 | KCNT1 | c.3067G>A (p.Gly1023Ser) c.2908G>A (p.Gly970Ser) c.2815G>A (p.Gly939Ser) c.2824G>A (p.Gly942Ser) c.2968G>A (p.Gly990Ser) c.*2677G>A (n.*2677G>A) c.2950G>A (p.Gly984Ser) c.3010G>A (p.Gly1004Ser) c.3004G>A (p.Gly1002Ser) n.2886G>A c.2932G>A (p.Gly978Ser) c.2902G>A (p.Gly968Ser) c.933G>A (n.933G>A) c.3202G>A (p.Gly1068Ser) c.3211G>A (p.Gly1071Ser) c.2557G>A (p.Gly853Ser) c.3001G>A (p.Gly1001Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784800G>C | CA375518114 | KCNT1 | c.3067G>C (p.Gly1023Arg) c.2908G>C (p.Gly970Arg) c.2815G>C (p.Gly939Arg) c.2824G>C (p.Gly942Arg) c.2968G>C (p.Gly990Arg) c.*2677G>C (n.*2677G>C) c.2950G>C (p.Gly984Arg) c.3010G>C (p.Gly1004Arg) c.3004G>C (p.Gly1002Arg) n.2886G>C c.2932G>C (p.Gly978Arg) c.2902G>C (p.Gly968Arg) c.933G>C (n.933G>C) c.3202G>C (p.Gly1068Arg) c.3211G>C (p.Gly1071Arg) c.2557G>C (p.Gly853Arg) c.3001G>C (p.Gly1001Arg) | |
| 9 | g.135784800G= | CA1883884324 | KCNT1 | c.3067G= (p.Gly1023=) c.2908G= (p.Gly970=) c.2815G= (p.Gly939=) c.2824G= (p.Gly942=) c.2968G= (p.Gly990=) c.*2677G= (n.*2677G=) c.2950G= (p.Gly984=) c.3010G= (p.Gly1004=) c.3004G= (p.Gly1002=) n.2886G= c.2932G= (p.Gly978=) c.2902G= (p.Gly968=) c.933G= (n.933G=) c.3202G= (p.Gly1068=) c.3211G= (p.Gly1071=) c.2557G= (p.Gly853=) c.3001G= (p.Gly1001=) | |
| 9 | g.135784800G>T | CA375518113 | KCNT1 | c.3067G>T (p.Gly1023Cys) c.2908G>T (p.Gly970Cys) c.2815G>T (p.Gly939Cys) c.2824G>T (p.Gly942Cys) c.2968G>T (p.Gly990Cys) c.*2677G>T (n.*2677G>T) c.2950G>T (p.Gly984Cys) c.3010G>T (p.Gly1004Cys) c.3004G>T (p.Gly1002Cys) n.2886G>T c.2932G>T (p.Gly978Cys) c.2902G>T (p.Gly968Cys) c.933G>T (n.933G>T) c.3202G>T (p.Gly1068Cys) c.3211G>T (p.Gly1071Cys) c.2557G>T (p.Gly853Cys) c.3001G>T (p.Gly1001Cys) | |
| 9 | g.135784801del | CA2692521908 | KCNT1 | c.3068del (p.Gly1023AlafsTer?) c.2909del (p.Gly970AlafsTer?) c.2816del (p.Gly939AlafsTer?) c.2825del (p.Gly942AlafsTer?) c.2969del (p.Gly990AlafsTer?) c.*2678del (n.*2678del) c.2951del (p.Gly984AlafsTer?) c.3011del (p.Gly1004AlafsTer?) c.3005del (p.Gly1002AlafsTer?) n.2887del c.2933del (p.Gly978AlafsTer?) c.2903del (p.Gly968AlafsTer?) c.934del (n.934del) c.3203del (p.Gly1068AlafsTer?) c.3212del (p.Gly1071AlafsTer?) c.2558del (p.Gly853AlafsTer?) c.3002del (p.Gly1001AlafsTer?) | gnomAD v4 |
| 9 | g.135784801G>A | CA375518115 | KCNT1 | c.3068G>A (p.Gly1023Asp) c.2909G>A (p.Gly970Asp) c.2816G>A (p.Gly939Asp) c.2825G>A (p.Gly942Asp) c.2969G>A (p.Gly990Asp) c.*2678G>A (n.*2678G>A) c.2951G>A (p.Gly984Asp) c.3011G>A (p.Gly1004Asp) c.3005G>A (p.Gly1002Asp) n.2887G>A c.2933G>A (p.Gly978Asp) c.2903G>A (p.Gly968Asp) c.934G>A (n.934G>A) c.3203G>A (p.Gly1068Asp) c.3212G>A (p.Gly1071Asp) c.2558G>A (p.Gly853Asp) c.3002G>A (p.Gly1001Asp) | |
| 9 | g.135784801G>C | CA375518117 | KCNT1 | c.3068G>C (p.Gly1023Ala) c.2909G>C (p.Gly970Ala) c.2816G>C (p.Gly939Ala) c.2825G>C (p.Gly942Ala) c.2969G>C (p.Gly990Ala) c.*2678G>C (n.*2678G>C) c.2951G>C (p.Gly984Ala) c.3011G>C (p.Gly1004Ala) c.3005G>C (p.Gly1002Ala) n.2887G>C c.2933G>C (p.Gly978Ala) c.2903G>C (p.Gly968Ala) c.934G>C (n.934G>C) c.3203G>C (p.Gly1068Ala) c.3212G>C (p.Gly1071Ala) c.2558G>C (p.Gly853Ala) c.3002G>C (p.Gly1001Ala) | |
| 9 | g.135784801G>T | CA375518116 | KCNT1 | c.3068G>T (p.Gly1023Val) c.2909G>T (p.Gly970Val) c.2816G>T (p.Gly939Val) c.2825G>T (p.Gly942Val) c.2969G>T (p.Gly990Val) c.*2678G>T (n.*2678G>T) c.2951G>T (p.Gly984Val) c.3011G>T (p.Gly1004Val) c.3005G>T (p.Gly1002Val) n.2887G>T c.2933G>T (p.Gly978Val) c.2903G>T (p.Gly968Val) c.934G>T (n.934G>T) c.3203G>T (p.Gly1068Val) c.3212G>T (p.Gly1071Val) c.2558G>T (p.Gly853Val) c.3002G>T (p.Gly1001Val) | |
| 9 | g.135784802C>A | CA467820955 | KCNT1 | c.3069C>A (p.Gly1023=) c.2910C>A (p.Gly970=) c.2817C>A (p.Gly939=) c.2826C>A (p.Gly942=) c.2970C>A (p.Gly990=) c.*2679C>A (n.*2679C>A) c.2952C>A (p.Gly984=) c.3012C>A (p.Gly1004=) c.3006C>A (p.Gly1002=) n.2888C>A c.2934C>A (p.Gly978=) c.2904C>A (p.Gly968=) c.935C>A (n.935C>A) c.3204C>A (p.Gly1068=) c.3213C>A (p.Gly1071=) c.2559C>A (p.Gly853=) c.3003C>A (p.Gly1001=) | |
| 9 | g.135784802C>G | CA467820954 | KCNT1 | c.3069C>G (p.Gly1023=) c.2910C>G (p.Gly970=) c.2817C>G (p.Gly939=) c.2826C>G (p.Gly942=) c.2970C>G (p.Gly990=) c.*2679C>G (n.*2679C>G) c.2952C>G (p.Gly984=) c.3012C>G (p.Gly1004=) c.3006C>G (p.Gly1002=) n.2888C>G c.2934C>G (p.Gly978=) c.2904C>G (p.Gly968=) c.935C>G (n.935C>G) c.3204C>G (p.Gly1068=) c.3213C>G (p.Gly1071=) c.2559C>G (p.Gly853=) c.3003C>G (p.Gly1001=) | |
| 9 | g.135784802C>T | CA467820953 | KCNT1 | c.3069C>T (p.Gly1023=) c.2910C>T (p.Gly970=) c.2817C>T (p.Gly939=) c.2826C>T (p.Gly942=) c.2970C>T (p.Gly990=) c.*2679C>T (n.*2679C>T) c.2952C>T (p.Gly984=) c.3012C>T (p.Gly1004=) c.3006C>T (p.Gly1002=) n.2888C>T c.2934C>T (p.Gly978=) c.2904C>T (p.Gly968=) c.935C>T (n.935C>T) c.3204C>T (p.Gly1068=) c.3213C>T (p.Gly1071=) c.2559C>T (p.Gly853=) c.3003C>T (p.Gly1001=) | |
| 9 | g.135784803C>A | CA375518118 | KCNT1 | c.3070C>A (p.Arg1024Ser) c.2911C>A (p.Arg971Ser) c.2818C>A (p.Arg940Ser) c.2827C>A (p.Arg943Ser) c.2971C>A (p.Arg991Ser) c.*2680C>A (n.*2680C>A) c.2953C>A (p.Arg985Ser) c.3013C>A (p.Arg1005Ser) c.3007C>A (p.Arg1003Ser) n.2889C>A c.2935C>A (p.Arg979Ser) c.2905C>A (p.Arg969Ser) c.936C>A (n.936C>A) c.3205C>A (p.Arg1069Ser) c.3214C>A (p.Arg1072Ser) c.2560C>A (p.Arg854Ser) c.3004C>A (p.Arg1002Ser) | |
| 9 | g.135784803C= | CA1883884325 | KCNT1 | c.3070C= (p.Arg1024=) c.2911C= (p.Arg971=) c.2818C= (p.Arg940=) c.2827C= (p.Arg943=) c.2971C= (p.Arg991=) c.*2680C= (n.*2680C=) c.2953C= (p.Arg985=) c.3013C= (p.Arg1005=) c.3007C= (p.Arg1003=) n.2889C= c.2935C= (p.Arg979=) c.2905C= (p.Arg969=) c.936C= (n.936C=) c.3205C= (p.Arg1069=) c.3214C= (p.Arg1072=) c.2560C= (p.Arg854=) c.3004C= (p.Arg1002=) | |
| 9 | g.135784803C>G | CA375518119 | KCNT1 | c.3070C>G (p.Arg1024Gly) c.2911C>G (p.Arg971Gly) c.2818C>G (p.Arg940Gly) c.2827C>G (p.Arg943Gly) c.2971C>G (p.Arg991Gly) c.*2680C>G (n.*2680C>G) c.2953C>G (p.Arg985Gly) c.3013C>G (p.Arg1005Gly) c.3007C>G (p.Arg1003Gly) n.2889C>G c.2935C>G (p.Arg979Gly) c.2905C>G (p.Arg969Gly) c.936C>G (n.936C>G) c.3205C>G (p.Arg1069Gly) c.3214C>G (p.Arg1072Gly) c.2560C>G (p.Arg854Gly) c.3004C>G (p.Arg1002Gly) | |
| 9 | g.135784803C>T | CA5327606 | KCNT1 | c.3070C>T (p.Arg1024Cys) c.2911C>T (p.Arg971Cys) c.2818C>T (p.Arg940Cys) c.2827C>T (p.Arg943Cys) c.2971C>T (p.Arg991Cys) c.*2680C>T (n.*2680C>T) c.2953C>T (p.Arg985Cys) c.3013C>T (p.Arg1005Cys) c.3007C>T (p.Arg1003Cys) n.2889C>T c.2935C>T (p.Arg979Cys) c.2905C>T (p.Arg969Cys) c.936C>T (n.936C>T) c.3205C>T (p.Arg1069Cys) c.3214C>T (p.Arg1072Cys) c.2560C>T (p.Arg854Cys) c.3004C>T (p.Arg1002Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784804G>A | CA5327607 | KCNT1 | c.3071G>A (p.Arg1024His) c.2912G>A (p.Arg971His) c.2819G>A (p.Arg940His) c.2828G>A (p.Arg943His) c.2972G>A (p.Arg991His) c.*2681G>A (n.*2681G>A) c.2954G>A (p.Arg985His) c.3014G>A (p.Arg1005His) c.3008G>A (p.Arg1003His) n.2890G>A c.2936G>A (p.Arg979His) c.2906G>A (p.Arg969His) c.937G>A (n.937G>A) c.3206G>A (p.Arg1069His) c.3215G>A (p.Arg1072His) c.2561G>A (p.Arg854His) c.3005G>A (p.Arg1002His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135784804G>C | CA375518120 | KCNT1 | c.3071G>C (p.Arg1024Pro) c.2912G>C (p.Arg971Pro) c.2819G>C (p.Arg940Pro) c.2828G>C (p.Arg943Pro) c.2972G>C (p.Arg991Pro) c.*2681G>C (n.*2681G>C) c.2954G>C (p.Arg985Pro) c.3014G>C (p.Arg1005Pro) c.3008G>C (p.Arg1003Pro) n.2890G>C c.2936G>C (p.Arg979Pro) c.2906G>C (p.Arg969Pro) c.937G>C (n.937G>C) c.3206G>C (p.Arg1069Pro) c.3215G>C (p.Arg1072Pro) c.2561G>C (p.Arg854Pro) c.3005G>C (p.Arg1002Pro) | |
| 9 | g.135784804G= | CA1883884328 | KCNT1 | c.3071G= (p.Arg1024=) c.2912G= (p.Arg971=) c.2819G= (p.Arg940=) c.2828G= (p.Arg943=) c.2972G= (p.Arg991=) c.*2681G= (n.*2681G=) c.2954G= (p.Arg985=) c.3014G= (p.Arg1005=) c.3008G= (p.Arg1003=) n.2890G= c.2936G= (p.Arg979=) c.2906G= (p.Arg969=) c.937G= (n.937G=) c.3206G= (p.Arg1069=) c.3215G= (p.Arg1072=) c.2561G= (p.Arg854=) c.3005G= (p.Arg1002=) | |
| 9 | g.135784804G>T | CA375518121 | KCNT1 | c.3071G>T (p.Arg1024Leu) c.2912G>T (p.Arg971Leu) c.2819G>T (p.Arg940Leu) c.2828G>T (p.Arg943Leu) c.2972G>T (p.Arg991Leu) c.*2681G>T (n.*2681G>T) c.2954G>T (p.Arg985Leu) c.3014G>T (p.Arg1005Leu) c.3008G>T (p.Arg1003Leu) n.2890G>T c.2936G>T (p.Arg979Leu) c.2906G>T (p.Arg969Leu) c.937G>T (n.937G>T) c.3206G>T (p.Arg1069Leu) c.3215G>T (p.Arg1072Leu) c.2561G>T (p.Arg854Leu) c.3005G>T (p.Arg1002Leu) | gnomAD v4 |
| 9 | g.135784805C>A | CA467820959 | KCNT1 | c.3072C>A (p.Arg1024=) c.2913C>A (p.Arg971=) c.2820C>A (p.Arg940=) c.2829C>A (p.Arg943=) c.2973C>A (p.Arg991=) c.*2682C>A (n.*2682C>A) c.2955C>A (p.Arg985=) c.3015C>A (p.Arg1005=) c.3009C>A (p.Arg1003=) n.2891C>A c.2937C>A (p.Arg979=) c.2907C>A (p.Arg969=) c.938C>A (n.938C>A) c.3207C>A (p.Arg1069=) c.3216C>A (p.Arg1072=) c.2562C>A (p.Arg854=) c.3006C>A (p.Arg1002=) | |
| 9 | g.135784805C= | CA1883884332 | KCNT1 | c.3072C= (p.Arg1024=) c.2913C= (p.Arg971=) c.2820C= (p.Arg940=) c.2829C= (p.Arg943=) c.2973C= (p.Arg991=) c.*2682C= (n.*2682C=) c.2955C= (p.Arg985=) c.3015C= (p.Arg1005=) c.3009C= (p.Arg1003=) n.2891C= c.2937C= (p.Arg979=) c.2907C= (p.Arg969=) c.938C= (n.938C=) c.3207C= (p.Arg1069=) c.3216C= (p.Arg1072=) c.2562C= (p.Arg854=) c.3006C= (p.Arg1002=) | |
| 9 | g.135784805C>G | CA5327609 | KCNT1 | c.3072C>G (p.Arg1024=) c.2913C>G (p.Arg971=) c.2820C>G (p.Arg940=) c.2829C>G (p.Arg943=) c.2973C>G (p.Arg991=) c.*2682C>G (n.*2682C>G) c.2955C>G (p.Arg985=) c.3015C>G (p.Arg1005=) c.3009C>G (p.Arg1003=) n.2891C>G c.2937C>G (p.Arg979=) c.2907C>G (p.Arg969=) c.938C>G (n.938C>G) c.3207C>G (p.Arg1069=) c.3216C>G (p.Arg1072=) c.2562C>G (p.Arg854=) c.3006C>G (p.Arg1002=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135784805C>T | CA5327608 | KCNT1 | c.3072C>T (p.Arg1024=) c.2913C>T (p.Arg971=) c.2820C>T (p.Arg940=) c.2829C>T (p.Arg943=) c.2973C>T (p.Arg991=) c.*2682C>T (n.*2682C>T) c.2955C>T (p.Arg985=) c.3015C>T (p.Arg1005=) c.3009C>T (p.Arg1003=) n.2891C>T c.2937C>T (p.Arg979=) c.2907C>T (p.Arg969=) c.938C>T (n.938C>T) c.3207C>T (p.Arg1069=) c.3216C>T (p.Arg1072=) c.2562C>T (p.Arg854=) c.3006C>T (p.Arg1002=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784806C>A | CA375518122 | KCNT1 | c.3073C>A (p.Leu1025Ile) c.2914C>A (p.Leu972Ile) c.2821C>A (p.Leu941Ile) c.2830C>A (p.Leu944Ile) c.2974C>A (p.Leu992Ile) c.*2683C>A (n.*2683C>A) c.2956C>A (p.Leu986Ile) c.3016C>A (p.Leu1006Ile) c.3010C>A (p.Leu1004Ile) n.2892C>A c.2938C>A (p.Leu980Ile) c.2908C>A (p.Leu970Ile) c.939C>A (n.939C>A) c.3208C>A (p.Leu1070Ile) c.3217C>A (p.Leu1073Ile) c.2563C>A (p.Leu855Ile) c.3007C>A (p.Leu1003Ile) | |
| 9 | g.135784806C>G | CA375518123 | KCNT1 | c.3073C>G (p.Leu1025Val) c.2914C>G (p.Leu972Val) c.2821C>G (p.Leu941Val) c.2830C>G (p.Leu944Val) c.2974C>G (p.Leu992Val) c.*2683C>G (n.*2683C>G) c.2956C>G (p.Leu986Val) c.3016C>G (p.Leu1006Val) c.3010C>G (p.Leu1004Val) n.2892C>G c.2938C>G (p.Leu980Val) c.2908C>G (p.Leu970Val) c.939C>G (n.939C>G) c.3208C>G (p.Leu1070Val) c.3217C>G (p.Leu1073Val) c.2563C>G (p.Leu855Val) c.3007C>G (p.Leu1003Val) | |
| 9 | g.135784806C>T | CA375518124 | KCNT1 | c.3073C>T (p.Leu1025Phe) c.2914C>T (p.Leu972Phe) c.2821C>T (p.Leu941Phe) c.2830C>T (p.Leu944Phe) c.2974C>T (p.Leu992Phe) c.*2683C>T (n.*2683C>T) c.2956C>T (p.Leu986Phe) c.3016C>T (p.Leu1006Phe) c.3010C>T (p.Leu1004Phe) n.2892C>T c.2938C>T (p.Leu980Phe) c.2908C>T (p.Leu970Phe) c.939C>T (n.939C>T) c.3208C>T (p.Leu1070Phe) c.3217C>T (p.Leu1073Phe) c.2563C>T (p.Leu855Phe) c.3007C>T (p.Leu1003Phe) | |
| 9 | g.135784807T>A | CA375518127 | KCNT1 | c.3074T>A (p.Leu1025His) c.2915T>A (p.Leu972His) c.2822T>A (p.Leu941His) c.2831T>A (p.Leu944His) c.2975T>A (p.Leu992His) c.*2684T>A (n.*2684T>A) c.2957T>A (p.Leu986His) c.3017T>A (p.Leu1006His) c.3011T>A (p.Leu1004His) n.2893T>A c.2939T>A (p.Leu980His) c.2909T>A (p.Leu970His) c.940T>A (n.940T>A) c.3209T>A (p.Leu1070His) c.3218T>A (p.Leu1073His) c.2564T>A (p.Leu855His) c.3008T>A (p.Leu1003His) | COSMIC |
| 9 | g.135784807T>C | CA375518126 | KCNT1 | c.3074T>C (p.Leu1025Pro) c.2915T>C (p.Leu972Pro) c.2822T>C (p.Leu941Pro) c.2831T>C (p.Leu944Pro) c.2975T>C (p.Leu992Pro) c.*2684T>C (n.*2684T>C) c.2957T>C (p.Leu986Pro) c.3017T>C (p.Leu1006Pro) c.3011T>C (p.Leu1004Pro) n.2893T>C c.2939T>C (p.Leu980Pro) c.2909T>C (p.Leu970Pro) c.940T>C (n.940T>C) c.3209T>C (p.Leu1070Pro) c.3218T>C (p.Leu1073Pro) c.2564T>C (p.Leu855Pro) c.3008T>C (p.Leu1003Pro) | |
| 9 | g.135784807T>G | CA375518125 | KCNT1 | c.3074T>G (p.Leu1025Arg) c.2915T>G (p.Leu972Arg) c.2822T>G (p.Leu941Arg) c.2831T>G (p.Leu944Arg) c.2975T>G (p.Leu992Arg) c.*2684T>G (n.*2684T>G) c.2957T>G (p.Leu986Arg) c.3017T>G (p.Leu1006Arg) c.3011T>G (p.Leu1004Arg) n.2893T>G c.2939T>G (p.Leu980Arg) c.2909T>G (p.Leu970Arg) c.940T>G (n.940T>G) c.3209T>G (p.Leu1070Arg) c.3218T>G (p.Leu1073Arg) c.2564T>G (p.Leu855Arg) c.3008T>G (p.Leu1003Arg) | |
| 9 | g.135784808C>A | CA467820964 | KCNT1 | c.3075C>A (p.Leu1025=) c.2916C>A (p.Leu972=) c.2823C>A (p.Leu941=) c.2832C>A (p.Leu944=) c.2976C>A (p.Leu992=) c.*2685C>A (n.*2685C>A) c.2958C>A (p.Leu986=) c.3018C>A (p.Leu1006=) c.3012C>A (p.Leu1004=) n.2894C>A c.2940C>A (p.Leu980=) c.2910C>A (p.Leu970=) c.941C>A (n.941C>A) c.3210C>A (p.Leu1070=) c.3219C>A (p.Leu1073=) c.2565C>A (p.Leu855=) c.3009C>A (p.Leu1003=) | |
| 9 | g.135784808C>G | CA467820965 | KCNT1 | c.3075C>G (p.Leu1025=) c.2916C>G (p.Leu972=) c.2823C>G (p.Leu941=) c.2832C>G (p.Leu944=) c.2976C>G (p.Leu992=) c.*2685C>G (n.*2685C>G) c.2958C>G (p.Leu986=) c.3018C>G (p.Leu1006=) c.3012C>G (p.Leu1004=) n.2894C>G c.2940C>G (p.Leu980=) c.2910C>G (p.Leu970=) c.941C>G (n.941C>G) c.3210C>G (p.Leu1070=) c.3219C>G (p.Leu1073=) c.2565C>G (p.Leu855=) c.3009C>G (p.Leu1003=) | COSMIC COSMIC |
| 9 | g.135784808C>T | CA467820966 | KCNT1 | c.3075C>T (p.Leu1025=) c.2916C>T (p.Leu972=) c.2823C>T (p.Leu941=) c.2832C>T (p.Leu944=) c.2976C>T (p.Leu992=) c.*2685C>T (n.*2685C>T) c.2958C>T (p.Leu986=) c.3018C>T (p.Leu1006=) c.3012C>T (p.Leu1004=) n.2894C>T c.2940C>T (p.Leu980=) c.2910C>T (p.Leu970=) c.941C>T (n.941C>T) c.3210C>T (p.Leu1070=) c.3219C>T (p.Leu1073=) c.2565C>T (p.Leu855=) c.3009C>T (p.Leu1003=) | gnomAD v4 |
| 9 | g.135784809T>A | CA375518128 | KCNT1 | c.3076T>A (p.Phe1026Ile) c.2917T>A (p.Phe973Ile) c.2824T>A (p.Phe942Ile) c.2833T>A (p.Phe945Ile) c.2977T>A (p.Phe993Ile) c.*2686T>A (n.*2686T>A) c.2959T>A (p.Phe987Ile) c.3019T>A (p.Phe1007Ile) c.3013T>A (p.Phe1005Ile) n.2895T>A c.2941T>A (p.Phe981Ile) c.2911T>A (p.Phe971Ile) c.942T>A (n.942T>A) c.3211T>A (p.Phe1071Ile) c.3220T>A (p.Phe1074Ile) c.2566T>A (p.Phe856Ile) c.3010T>A (p.Phe1004Ile) | |
| 9 | g.135784809T>C | CA375518129 | KCNT1 | c.3076T>C (p.Phe1026Leu) c.2917T>C (p.Phe973Leu) c.2824T>C (p.Phe942Leu) c.2833T>C (p.Phe945Leu) c.2977T>C (p.Phe993Leu) c.*2686T>C (n.*2686T>C) c.2959T>C (p.Phe987Leu) c.3019T>C (p.Phe1007Leu) c.3013T>C (p.Phe1005Leu) n.2895T>C c.2941T>C (p.Phe981Leu) c.2911T>C (p.Phe971Leu) c.942T>C (n.942T>C) c.3211T>C (p.Phe1071Leu) c.3220T>C (p.Phe1074Leu) c.2566T>C (p.Phe856Leu) c.3010T>C (p.Phe1004Leu) | |
| 9 | g.135784809T>G | CA375518130 | KCNT1 | c.3076T>G (p.Phe1026Val) c.2917T>G (p.Phe973Val) c.2824T>G (p.Phe942Val) c.2833T>G (p.Phe945Val) c.2977T>G (p.Phe993Val) c.*2686T>G (n.*2686T>G) c.2959T>G (p.Phe987Val) c.3019T>G (p.Phe1007Val) c.3013T>G (p.Phe1005Val) n.2895T>G c.2941T>G (p.Phe981Val) c.2911T>G (p.Phe971Val) c.942T>G (n.942T>G) c.3211T>G (p.Phe1071Val) c.3220T>G (p.Phe1074Val) c.2566T>G (p.Phe856Val) c.3010T>G (p.Phe1004Val) | |
| 9 | g.135784810T>A | CA375518131 | KCNT1 | c.3077T>A (p.Phe1026Tyr) c.2918T>A (p.Phe973Tyr) c.2825T>A (p.Phe942Tyr) c.2834T>A (p.Phe945Tyr) c.2978T>A (p.Phe993Tyr) c.*2687T>A (n.*2687T>A) c.2960T>A (p.Phe987Tyr) c.3020T>A (p.Phe1007Tyr) c.3014T>A (p.Phe1005Tyr) n.2896T>A c.2942T>A (p.Phe981Tyr) c.2912T>A (p.Phe971Tyr) c.943T>A (n.943T>A) c.3212T>A (p.Phe1071Tyr) c.3221T>A (p.Phe1074Tyr) c.2567T>A (p.Phe856Tyr) c.3011T>A (p.Phe1004Tyr) | |
| 9 | g.135784810T>C | CA375518132 | KCNT1 | c.3077T>C (p.Phe1026Ser) c.2918T>C (p.Phe973Ser) c.2825T>C (p.Phe942Ser) c.2834T>C (p.Phe945Ser) c.2978T>C (p.Phe993Ser) c.*2687T>C (n.*2687T>C) c.2960T>C (p.Phe987Ser) c.3020T>C (p.Phe1007Ser) c.3014T>C (p.Phe1005Ser) n.2896T>C c.2942T>C (p.Phe981Ser) c.2912T>C (p.Phe971Ser) c.943T>C (n.943T>C) c.3212T>C (p.Phe1071Ser) c.3221T>C (p.Phe1074Ser) c.2567T>C (p.Phe856Ser) c.3011T>C (p.Phe1004Ser) | |
| 9 | g.135784810T>G | CA375518133 | KCNT1 | c.3077T>G (p.Phe1026Cys) c.2918T>G (p.Phe973Cys) c.2825T>G (p.Phe942Cys) c.2834T>G (p.Phe945Cys) c.2978T>G (p.Phe993Cys) c.*2687T>G (n.*2687T>G) c.2960T>G (p.Phe987Cys) c.3020T>G (p.Phe1007Cys) c.3014T>G (p.Phe1005Cys) n.2896T>G c.2942T>G (p.Phe981Cys) c.2912T>G (p.Phe971Cys) c.943T>G (n.943T>G) c.3212T>G (p.Phe1071Cys) c.3221T>G (p.Phe1074Cys) c.2567T>G (p.Phe856Cys) c.3011T>G (p.Phe1004Cys) | |
| 9 | g.135784811C>A | CA375518134 | KCNT1 | c.3078C>A (p.Phe1026Leu) c.2919C>A (p.Phe973Leu) c.2826C>A (p.Phe942Leu) c.2835C>A (p.Phe945Leu) c.2979C>A (p.Phe993Leu) c.*2688C>A (n.*2688C>A) c.2961C>A (p.Phe987Leu) c.3021C>A (p.Phe1007Leu) c.3015C>A (p.Phe1005Leu) n.2897C>A c.2943C>A (p.Phe981Leu) c.2913C>A (p.Phe971Leu) c.944C>A (n.944C>A) c.3213C>A (p.Phe1071Leu) c.3222C>A (p.Phe1074Leu) c.2568C>A (p.Phe856Leu) c.3012C>A (p.Phe1004Leu) | |
| 9 | g.135784811C= | CA1883884343 | KCNT1 | c.3078C= (p.Phe1026=) c.2919C= (p.Phe973=) c.2826C= (p.Phe942=) c.2835C= (p.Phe945=) c.2979C= (p.Phe993=) c.*2688C= (n.*2688C=) c.2961C= (p.Phe987=) c.3021C= (p.Phe1007=) c.3015C= (p.Phe1005=) n.2897C= c.2943C= (p.Phe981=) c.2913C= (p.Phe971=) c.944C= (n.944C=) c.3213C= (p.Phe1071=) c.3222C= (p.Phe1074=) c.2568C= (p.Phe856=) c.3012C= (p.Phe1004=) | |
| 9 | g.135784811C>G | CA375518135 | KCNT1 | c.3078C>G (p.Phe1026Leu) c.2919C>G (p.Phe973Leu) c.2826C>G (p.Phe942Leu) c.2835C>G (p.Phe945Leu) c.2979C>G (p.Phe993Leu) c.*2688C>G (n.*2688C>G) c.2961C>G (p.Phe987Leu) c.3021C>G (p.Phe1007Leu) c.3015C>G (p.Phe1005Leu) n.2897C>G c.2943C>G (p.Phe981Leu) c.2913C>G (p.Phe971Leu) c.944C>G (n.944C>G) c.3213C>G (p.Phe1071Leu) c.3222C>G (p.Phe1074Leu) c.2568C>G (p.Phe856Leu) c.3012C>G (p.Phe1004Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135784811C>T | CA467820971 | KCNT1 | c.3078C>T (p.Phe1026=) c.2919C>T (p.Phe973=) c.2826C>T (p.Phe942=) c.2835C>T (p.Phe945=) c.2979C>T (p.Phe993=) c.*2688C>T (n.*2688C>T) c.2961C>T (p.Phe987=) c.3021C>T (p.Phe1007=) c.3015C>T (p.Phe1005=) n.2897C>T c.2943C>T (p.Phe981=) c.2913C>T (p.Phe971=) c.944C>T (n.944C>T) c.3213C>T (p.Phe1071=) c.3222C>T (p.Phe1074=) c.2568C>T (p.Phe856=) c.3012C>T (p.Phe1004=) | dbSNP |
| 9 | g.135784812C>A | CA375518136 | KCNT1 | c.3079C>A (p.Gln1027Lys) c.2920C>A (p.Gln974Lys) c.2827C>A (p.Gln943Lys) c.2836C>A (p.Gln946Lys) c.2980C>A (p.Gln994Lys) c.*2689C>A (n.*2689C>A) c.2962C>A (p.Gln988Lys) c.3022C>A (p.Gln1008Lys) c.3016C>A (p.Gln1006Lys) n.2898C>A c.2944C>A (p.Gln982Lys) c.2914C>A (p.Gln972Lys) c.945C>A (n.945C>A) c.3214C>A (p.Gln1072Lys) c.3223C>A (p.Gln1075Lys) c.2569C>A (p.Gln857Lys) c.3013C>A (p.Gln1005Lys) | |
| 9 | g.135784812C>G | CA375518137 | KCNT1 | c.3079C>G (p.Gln1027Glu) c.2920C>G (p.Gln974Glu) c.2827C>G (p.Gln943Glu) c.2836C>G (p.Gln946Glu) c.2980C>G (p.Gln994Glu) c.*2689C>G (n.*2689C>G) c.2962C>G (p.Gln988Glu) c.3022C>G (p.Gln1008Glu) c.3016C>G (p.Gln1006Glu) n.2898C>G c.2944C>G (p.Gln982Glu) c.2914C>G (p.Gln972Glu) c.945C>G (n.945C>G) c.3214C>G (p.Gln1072Glu) c.3223C>G (p.Gln1075Glu) c.2569C>G (p.Gln857Glu) c.3013C>G (p.Gln1005Glu) | |
| 9 | g.135784812C>T | CA375518138 | KCNT1 | c.3079C>T (p.Gln1027Ter) c.2920C>T (p.Gln974Ter) c.2827C>T (p.Gln943Ter) c.2836C>T (p.Gln946Ter) c.2980C>T (p.Gln994Ter) c.*2689C>T (n.*2689C>T) c.2962C>T (p.Gln988Ter) c.3022C>T (p.Gln1008Ter) c.3016C>T (p.Gln1006Ter) n.2898C>T c.2944C>T (p.Gln982Ter) c.2914C>T (p.Gln972Ter) c.945C>T (n.945C>T) c.3214C>T (p.Gln1072Ter) c.3223C>T (p.Gln1075Ter) c.2569C>T (p.Gln857Ter) c.3013C>T (p.Gln1005Ter) | gnomAD v4 |
| 9 | g.135784813A>C | CA375518141 | KCNT1 | c.3080A>C (p.Gln1027Pro) c.2921A>C (p.Gln974Pro) c.2828A>C (p.Gln943Pro) c.2837A>C (p.Gln946Pro) c.2981A>C (p.Gln994Pro) c.*2690A>C (n.*2690A>C) c.2963A>C (p.Gln988Pro) c.3023A>C (p.Gln1008Pro) c.3017A>C (p.Gln1006Pro) n.2899A>C c.2945A>C (p.Gln982Pro) c.2915A>C (p.Gln972Pro) c.946A>C (n.946A>C) c.3215A>C (p.Gln1072Pro) c.3224A>C (p.Gln1075Pro) c.2570A>C (p.Gln857Pro) c.3014A>C (p.Gln1005Pro) | |
| 9 | g.135784813A>G | CA375518140 | KCNT1 | c.3080A>G (p.Gln1027Arg) c.2921A>G (p.Gln974Arg) c.2828A>G (p.Gln943Arg) c.2837A>G (p.Gln946Arg) c.2981A>G (p.Gln994Arg) c.*2690A>G (n.*2690A>G) c.2963A>G (p.Gln988Arg) c.3023A>G (p.Gln1008Arg) c.3017A>G (p.Gln1006Arg) n.2899A>G c.2945A>G (p.Gln982Arg) c.2915A>G (p.Gln972Arg) c.946A>G (n.946A>G) c.3215A>G (p.Gln1072Arg) c.3224A>G (p.Gln1075Arg) c.2570A>G (p.Gln857Arg) c.3014A>G (p.Gln1005Arg) | gnomAD v4 |
| 9 | g.135784813A>T | CA375518139 | KCNT1 | c.3080A>T (p.Gln1027Leu) c.2921A>T (p.Gln974Leu) c.2828A>T (p.Gln943Leu) c.2837A>T (p.Gln946Leu) c.2981A>T (p.Gln994Leu) c.*2690A>T (n.*2690A>T) c.2963A>T (p.Gln988Leu) c.3023A>T (p.Gln1008Leu) c.3017A>T (p.Gln1006Leu) n.2899A>T c.2945A>T (p.Gln982Leu) c.2915A>T (p.Gln972Leu) c.946A>T (n.946A>T) c.3215A>T (p.Gln1072Leu) c.3224A>T (p.Gln1075Leu) c.2570A>T (p.Gln857Leu) c.3014A>T (p.Gln1005Leu) | |
| 9 | g.135784814G>A | CA467820977 | KCNT1 | c.3081G>A (p.Gln1027=) c.2922G>A (p.Gln974=) c.2829G>A (p.Gln943=) c.2838G>A (p.Gln946=) c.2982G>A (p.Gln994=) c.*2691G>A (n.*2691G>A) c.2964G>A (p.Gln988=) c.3024G>A (p.Gln1008=) c.3018G>A (p.Gln1006=) n.2900G>A c.2946G>A (p.Gln982=) c.2916G>A (p.Gln972=) c.947G>A (n.947G>A) c.3216G>A (p.Gln1072=) c.3225G>A (p.Gln1075=) c.2571G>A (p.Gln857=) c.3015G>A (p.Gln1005=) | gnomAD v4 |
| 9 | g.135784814G>C | CA375518142 | KCNT1 | c.3081G>C (p.Gln1027His) c.2922G>C (p.Gln974His) c.2829G>C (p.Gln943His) c.2838G>C (p.Gln946His) c.2982G>C (p.Gln994His) c.*2691G>C (n.*2691G>C) c.2964G>C (p.Gln988His) c.3024G>C (p.Gln1008His) c.3018G>C (p.Gln1006His) n.2900G>C c.2946G>C (p.Gln982His) c.2916G>C (p.Gln972His) c.947G>C (n.947G>C) c.3216G>C (p.Gln1072His) c.3225G>C (p.Gln1075His) c.2571G>C (p.Gln857His) c.3015G>C (p.Gln1005His) | |
| 9 | g.135784814G>T | CA375518143 | KCNT1 | c.3081G>T (p.Gln1027His) c.2922G>T (p.Gln974His) c.2829G>T (p.Gln943His) c.2838G>T (p.Gln946His) c.2982G>T (p.Gln994His) c.*2691G>T (n.*2691G>T) c.2964G>T (p.Gln988His) c.3024G>T (p.Gln1008His) c.3018G>T (p.Gln1006His) n.2900G>T c.2946G>T (p.Gln982His) c.2916G>T (p.Gln972His) c.947G>T (n.947G>T) c.3216G>T (p.Gln1072His) c.3225G>T (p.Gln1075His) c.2571G>T (p.Gln857His) c.3015G>T (p.Gln1005His) | |
| 9 | g.135784815A>C | CA375518144 | KCNT1 | c.3082A>C (p.Lys1028Gln) c.2923A>C (p.Lys975Gln) c.2830A>C (p.Lys944Gln) c.2839A>C (p.Lys947Gln) c.2983A>C (p.Lys995Gln) c.*2692A>C (n.*2692A>C) c.2965A>C (p.Lys989Gln) c.3025A>C (p.Lys1009Gln) c.3019A>C (p.Lys1007Gln) n.2901A>C c.2947A>C (p.Lys983Gln) c.2917A>C (p.Lys973Gln) c.948A>C (n.948A>C) c.3217A>C (p.Lys1073Gln) c.3226A>C (p.Lys1076Gln) c.2572A>C (p.Lys858Gln) c.3016A>C (p.Lys1006Gln) | gnomAD v4 |
| 9 | g.135784815A>G | CA375518145 | KCNT1 | c.3082A>G (p.Lys1028Glu) c.2923A>G (p.Lys975Glu) c.2830A>G (p.Lys944Glu) c.2839A>G (p.Lys947Glu) c.2983A>G (p.Lys995Glu) c.*2692A>G (n.*2692A>G) c.2965A>G (p.Lys989Glu) c.3025A>G (p.Lys1009Glu) c.3019A>G (p.Lys1007Glu) n.2901A>G c.2947A>G (p.Lys983Glu) c.2917A>G (p.Lys973Glu) c.948A>G (n.948A>G) c.3217A>G (p.Lys1073Glu) c.3226A>G (p.Lys1076Glu) c.2572A>G (p.Lys858Glu) c.3016A>G (p.Lys1006Glu) | |
| 9 | g.135784815A>T | CA375518146 | KCNT1 | c.3082A>T (p.Lys1028Ter) c.2923A>T (p.Lys975Ter) c.2830A>T (p.Lys944Ter) c.2839A>T (p.Lys947Ter) c.2983A>T (p.Lys995Ter) c.*2692A>T (n.*2692A>T) c.2965A>T (p.Lys989Ter) c.3025A>T (p.Lys1009Ter) c.3019A>T (p.Lys1007Ter) n.2901A>T c.2947A>T (p.Lys983Ter) c.2917A>T (p.Lys973Ter) c.948A>T (n.948A>T) c.3217A>T (p.Lys1073Ter) c.3226A>T (p.Lys1076Ter) c.2572A>T (p.Lys858Ter) c.3016A>T (p.Lys1006Ter) | |
| 9 | g.135784816A>C | CA375518147 | KCNT1 | c.3083A>C (p.Lys1028Thr) c.2924A>C (p.Lys975Thr) c.2831A>C (p.Lys944Thr) c.2840A>C (p.Lys947Thr) c.2984A>C (p.Lys995Thr) c.*2693A>C (n.*2693A>C) c.2966A>C (p.Lys989Thr) c.3026A>C (p.Lys1009Thr) c.3020A>C (p.Lys1007Thr) n.2902A>C c.2948A>C (p.Lys983Thr) c.2918A>C (p.Lys973Thr) c.949A>C (n.949A>C) c.3218A>C (p.Lys1073Thr) c.3227A>C (p.Lys1076Thr) c.2573A>C (p.Lys858Thr) c.3017A>C (p.Lys1006Thr) | |
| 9 | g.135784816A>G | CA375518148 | KCNT1 | c.3083A>G (p.Lys1028Arg) c.2924A>G (p.Lys975Arg) c.2831A>G (p.Lys944Arg) c.2840A>G (p.Lys947Arg) c.2984A>G (p.Lys995Arg) c.*2693A>G (n.*2693A>G) c.2966A>G (p.Lys989Arg) c.3026A>G (p.Lys1009Arg) c.3020A>G (p.Lys1007Arg) n.2902A>G c.2948A>G (p.Lys983Arg) c.2918A>G (p.Lys973Arg) c.949A>G (n.949A>G) c.3218A>G (p.Lys1073Arg) c.3227A>G (p.Lys1076Arg) c.2573A>G (p.Lys858Arg) c.3017A>G (p.Lys1006Arg) | |
| 9 | g.135784816A>T | CA375518149 | KCNT1 | c.3083A>T (p.Lys1028Met) c.2924A>T (p.Lys975Met) c.2831A>T (p.Lys944Met) c.2840A>T (p.Lys947Met) c.2984A>T (p.Lys995Met) c.*2693A>T (n.*2693A>T) c.2966A>T (p.Lys989Met) c.3026A>T (p.Lys1009Met) c.3020A>T (p.Lys1007Met) n.2902A>T c.2948A>T (p.Lys983Met) c.2918A>T (p.Lys973Met) c.949A>T (n.949A>T) c.3218A>T (p.Lys1073Met) c.3227A>T (p.Lys1076Met) c.2573A>T (p.Lys858Met) c.3017A>T (p.Lys1006Met) | |
| 9 | g.135784817G>A | CA467820978 | KCNT1 | c.3084G>A (p.Lys1028=) c.2925G>A (p.Lys975=) c.2832G>A (p.Lys944=) c.2841G>A (p.Lys947=) c.2985G>A (p.Lys995=) c.*2694G>A (n.*2694G>A) c.2967G>A (p.Lys989=) c.3027G>A (p.Lys1009=) c.3021G>A (p.Lys1007=) n.2903G>A c.2949G>A (p.Lys983=) c.2919G>A (p.Lys973=) c.950G>A (n.950G>A) c.3219G>A (p.Lys1073=) c.3228G>A (p.Lys1076=) c.2574G>A (p.Lys858=) c.3018G>A (p.Lys1006=) | |
| 9 | g.135784817G>C | CA375518150 | KCNT1 | c.3084G>C (p.Lys1028Asn) c.2925G>C (p.Lys975Asn) c.2832G>C (p.Lys944Asn) c.2841G>C (p.Lys947Asn) c.2985G>C (p.Lys995Asn) c.*2694G>C (n.*2694G>C) c.2967G>C (p.Lys989Asn) c.3027G>C (p.Lys1009Asn) c.3021G>C (p.Lys1007Asn) n.2903G>C c.2949G>C (p.Lys983Asn) c.2919G>C (p.Lys973Asn) c.950G>C (n.950G>C) c.3219G>C (p.Lys1073Asn) c.3228G>C (p.Lys1076Asn) c.2574G>C (p.Lys858Asn) c.3018G>C (p.Lys1006Asn) | |
| 9 | g.135784817G>T | CA375518151 | KCNT1 | c.3084G>T (p.Lys1028Asn) c.2925G>T (p.Lys975Asn) c.2832G>T (p.Lys944Asn) c.2841G>T (p.Lys947Asn) c.2985G>T (p.Lys995Asn) c.*2694G>T (n.*2694G>T) c.2967G>T (p.Lys989Asn) c.3027G>T (p.Lys1009Asn) c.3021G>T (p.Lys1007Asn) n.2903G>T c.2949G>T (p.Lys983Asn) c.2919G>T (p.Lys973Asn) c.950G>T (n.950G>T) c.3219G>T (p.Lys1073Asn) c.3228G>T (p.Lys1076Asn) c.2574G>T (p.Lys858Asn) c.3018G>T (p.Lys1006Asn) | |
| 9 | g.135784818C>A | CA375518152 | KCNT1 | c.3085C>A (p.Leu1029Ile) c.2926C>A (p.Leu976Ile) c.2833C>A (p.Leu945Ile) c.2842C>A (p.Leu948Ile) c.2986C>A (p.Leu996Ile) c.*2695C>A (n.*2695C>A) c.2968C>A (p.Leu990Ile) c.3028C>A (p.Leu1010Ile) c.3022C>A (p.Leu1008Ile) n.2904C>A c.2950C>A (p.Leu984Ile) c.2920C>A (p.Leu974Ile) c.951C>A (n.951C>A) c.3220C>A (p.Leu1074Ile) c.3229C>A (p.Leu1077Ile) c.2575C>A (p.Leu859Ile) c.3019C>A (p.Leu1007Ile) | |
| 9 | g.135784818C= | CA1883884352 | KCNT1 | c.3085C= (p.Leu1029=) c.2926C= (p.Leu976=) c.2833C= (p.Leu945=) c.2842C= (p.Leu948=) c.2986C= (p.Leu996=) c.*2695C= (n.*2695C=) c.2968C= (p.Leu990=) c.3028C= (p.Leu1010=) c.3022C= (p.Leu1008=) n.2904C= c.2950C= (p.Leu984=) c.2920C= (p.Leu974=) c.951C= (n.951C=) c.3220C= (p.Leu1074=) c.3229C= (p.Leu1077=) c.2575C= (p.Leu859=) c.3019C= (p.Leu1007=) | |
| 9 | g.135784818C>G | CA375518153 | KCNT1 | c.3085C>G (p.Leu1029Val) c.2926C>G (p.Leu976Val) c.2833C>G (p.Leu945Val) c.2842C>G (p.Leu948Val) c.2986C>G (p.Leu996Val) c.*2695C>G (n.*2695C>G) c.2968C>G (p.Leu990Val) c.3028C>G (p.Leu1010Val) c.3022C>G (p.Leu1008Val) n.2904C>G c.2950C>G (p.Leu984Val) c.2920C>G (p.Leu974Val) c.951C>G (n.951C>G) c.3220C>G (p.Leu1074Val) c.3229C>G (p.Leu1077Val) c.2575C>G (p.Leu859Val) c.3019C>G (p.Leu1007Val) | |
| 9 | g.135784818C>T | CA5327610 | KCNT1 | c.3085C>T (p.Leu1029Phe) c.2926C>T (p.Leu976Phe) c.2833C>T (p.Leu945Phe) c.2842C>T (p.Leu948Phe) c.2986C>T (p.Leu996Phe) c.*2695C>T (n.*2695C>T) c.2968C>T (p.Leu990Phe) c.3028C>T (p.Leu1010Phe) c.3022C>T (p.Leu1008Phe) n.2904C>T c.2950C>T (p.Leu984Phe) c.2920C>T (p.Leu974Phe) c.951C>T (n.951C>T) c.3220C>T (p.Leu1074Phe) c.3229C>T (p.Leu1077Phe) c.2575C>T (p.Leu859Phe) c.3019C>T (p.Leu1007Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135784819T>A | CA375518156 | KCNT1 | c.3086T>A (p.Leu1029His) c.2927T>A (p.Leu976His) c.2834T>A (p.Leu945His) c.2843T>A (p.Leu948His) c.2987T>A (p.Leu996His) c.*2696T>A (n.*2696T>A) c.2969T>A (p.Leu990His) c.3029T>A (p.Leu1010His) c.3023T>A (p.Leu1008His) n.2905T>A c.2951T>A (p.Leu984His) c.2921T>A (p.Leu974His) c.952T>A (n.952T>A) c.3221T>A (p.Leu1074His) c.3230T>A (p.Leu1077His) c.2576T>A (p.Leu859His) c.3020T>A (p.Leu1007His) | |
| 9 | g.135784819T>C | CA375518154 | KCNT1 | c.3086T>C (p.Leu1029Pro) c.2927T>C (p.Leu976Pro) c.2834T>C (p.Leu945Pro) c.2843T>C (p.Leu948Pro) c.2987T>C (p.Leu996Pro) c.*2696T>C (n.*2696T>C) c.2969T>C (p.Leu990Pro) c.3029T>C (p.Leu1010Pro) c.3023T>C (p.Leu1008Pro) n.2905T>C c.2951T>C (p.Leu984Pro) c.2921T>C (p.Leu974Pro) c.952T>C (n.952T>C) c.3221T>C (p.Leu1074Pro) c.3230T>C (p.Leu1077Pro) c.2576T>C (p.Leu859Pro) c.3020T>C (p.Leu1007Pro) | |
| 9 | g.135784819T>G | CA375518155 | KCNT1 | c.3086T>G (p.Leu1029Arg) c.2927T>G (p.Leu976Arg) c.2834T>G (p.Leu945Arg) c.2843T>G (p.Leu948Arg) c.2987T>G (p.Leu996Arg) c.*2696T>G (n.*2696T>G) c.2969T>G (p.Leu990Arg) c.3029T>G (p.Leu1010Arg) c.3023T>G (p.Leu1008Arg) n.2905T>G c.2951T>G (p.Leu984Arg) c.2921T>G (p.Leu974Arg) c.952T>G (n.952T>G) c.3221T>G (p.Leu1074Arg) c.3230T>G (p.Leu1077Arg) c.2576T>G (p.Leu859Arg) c.3020T>G (p.Leu1007Arg) | |
| 9 | g.135784820C>A | CA467820983 | KCNT1 | c.3087C>A (p.Leu1029=) c.2928C>A (p.Leu976=) c.2835C>A (p.Leu945=) c.2844C>A (p.Leu948=) c.2988C>A (p.Leu996=) c.*2697C>A (n.*2697C>A) c.2970C>A (p.Leu990=) c.3030C>A (p.Leu1010=) c.3024C>A (p.Leu1008=) n.2906C>A c.2952C>A (p.Leu984=) c.2922C>A (p.Leu974=) c.953C>A (n.953C>A) c.3222C>A (p.Leu1074=) c.3231C>A (p.Leu1077=) c.2577C>A (p.Leu859=) c.3021C>A (p.Leu1007=) | |
| 9 | g.135784820C>G | CA467820985 | KCNT1 | c.3087C>G (p.Leu1029=) c.2928C>G (p.Leu976=) c.2835C>G (p.Leu945=) c.2844C>G (p.Leu948=) c.2988C>G (p.Leu996=) c.*2697C>G (n.*2697C>G) c.2970C>G (p.Leu990=) c.3030C>G (p.Leu1010=) c.3024C>G (p.Leu1008=) n.2906C>G c.2952C>G (p.Leu984=) c.2922C>G (p.Leu974=) c.953C>G (n.953C>G) c.3222C>G (p.Leu1074=) c.3231C>G (p.Leu1077=) c.2577C>G (p.Leu859=) c.3021C>G (p.Leu1007=) | |
| 9 | g.135784820C>T | CA467820986 | KCNT1 | c.3087C>T (p.Leu1029=) c.2928C>T (p.Leu976=) c.2835C>T (p.Leu945=) c.2844C>T (p.Leu948=) c.2988C>T (p.Leu996=) c.*2697C>T (n.*2697C>T) c.2970C>T (p.Leu990=) c.3030C>T (p.Leu1010=) c.3024C>T (p.Leu1008=) n.2906C>T c.2952C>T (p.Leu984=) c.2922C>T (p.Leu974=) c.953C>T (n.953C>T) c.3222C>T (p.Leu1074=) c.3231C>T (p.Leu1077=) c.2577C>T (p.Leu859=) c.3021C>T (p.Leu1007=) | |
| 9 | g.135784821T>A | CA375518157 | KCNT1 | c.3088T>A (p.Cys1030Ser) c.2929T>A (p.Cys977Ser) c.2836T>A (p.Cys946Ser) c.2845T>A (p.Cys949Ser) c.2989T>A (p.Cys997Ser) c.*2698T>A (n.*2698T>A) c.2971T>A (p.Cys991Ser) c.3031T>A (p.Cys1011Ser) c.3025T>A (p.Cys1009Ser) n.2907T>A c.2953T>A (p.Cys985Ser) c.2923T>A (p.Cys975Ser) c.954T>A (n.954T>A) c.3223T>A (p.Cys1075Ser) c.3232T>A (p.Cys1078Ser) c.2578T>A (p.Cys860Ser) c.3022T>A (p.Cys1008Ser) | |
| 9 | g.135784821T>C | CA375518158 | KCNT1 | c.3088T>C (p.Cys1030Arg) c.2929T>C (p.Cys977Arg) c.2836T>C (p.Cys946Arg) c.2845T>C (p.Cys949Arg) c.2989T>C (p.Cys997Arg) c.*2698T>C (n.*2698T>C) c.2971T>C (p.Cys991Arg) c.3031T>C (p.Cys1011Arg) c.3025T>C (p.Cys1009Arg) n.2907T>C c.2953T>C (p.Cys985Arg) c.2923T>C (p.Cys975Arg) c.954T>C (n.954T>C) c.3223T>C (p.Cys1075Arg) c.3232T>C (p.Cys1078Arg) c.2578T>C (p.Cys860Arg) c.3022T>C (p.Cys1008Arg) | |
| 9 | g.135784821T>G | CA375518159 | KCNT1 | c.3088T>G (p.Cys1030Gly) c.2929T>G (p.Cys977Gly) c.2836T>G (p.Cys946Gly) c.2845T>G (p.Cys949Gly) c.2989T>G (p.Cys997Gly) c.*2698T>G (n.*2698T>G) c.2971T>G (p.Cys991Gly) c.3031T>G (p.Cys1011Gly) c.3025T>G (p.Cys1009Gly) n.2907T>G c.2953T>G (p.Cys985Gly) c.2923T>G (p.Cys975Gly) c.954T>G (n.954T>G) c.3223T>G (p.Cys1075Gly) c.3232T>G (p.Cys1078Gly) c.2578T>G (p.Cys860Gly) c.3022T>G (p.Cys1008Gly) | |
| 9 | g.135784822G>A | CA375518160 | KCNT1 | c.3089G>A (p.Cys1030Tyr) c.2930G>A (p.Cys977Tyr) c.2837G>A (p.Cys946Tyr) c.2846G>A (p.Cys949Tyr) c.2990G>A (p.Cys997Tyr) c.*2699G>A (n.*2699G>A) c.2972G>A (p.Cys991Tyr) c.3032G>A (p.Cys1011Tyr) c.3026G>A (p.Cys1009Tyr) n.2908G>A c.2954G>A (p.Cys985Tyr) c.2924G>A (p.Cys975Tyr) c.955G>A (n.955G>A) c.3224G>A (p.Cys1075Tyr) c.3233G>A (p.Cys1078Tyr) c.2579G>A (p.Cys860Tyr) c.3023G>A (p.Cys1008Tyr) | |
| 9 | g.135784822G>C | CA375518161 | KCNT1 | c.3089G>C (p.Cys1030Ser) c.2930G>C (p.Cys977Ser) c.2837G>C (p.Cys946Ser) c.2846G>C (p.Cys949Ser) c.2990G>C (p.Cys997Ser) c.*2699G>C (n.*2699G>C) c.2972G>C (p.Cys991Ser) c.3032G>C (p.Cys1011Ser) c.3026G>C (p.Cys1009Ser) n.2908G>C c.2954G>C (p.Cys985Ser) c.2924G>C (p.Cys975Ser) c.955G>C (n.955G>C) c.3224G>C (p.Cys1075Ser) c.3233G>C (p.Cys1078Ser) c.2579G>C (p.Cys860Ser) c.3023G>C (p.Cys1008Ser) | |
| 9 | g.135784822G>T | CA375518162 | KCNT1 | c.3089G>T (p.Cys1030Phe) c.2930G>T (p.Cys977Phe) c.2837G>T (p.Cys946Phe) c.2846G>T (p.Cys949Phe) c.2990G>T (p.Cys997Phe) c.*2699G>T (n.*2699G>T) c.2972G>T (p.Cys991Phe) c.3032G>T (p.Cys1011Phe) c.3026G>T (p.Cys1009Phe) n.2908G>T c.2954G>T (p.Cys985Phe) c.2924G>T (p.Cys975Phe) c.955G>T (n.955G>T) c.3224G>T (p.Cys1075Phe) c.3233G>T (p.Cys1078Phe) c.2579G>T (p.Cys860Phe) c.3023G>T (p.Cys1008Phe) | |
| 9 | g.135784823C>A | CA375518163 | KCNT1 | c.3090C>A (p.Cys1030Ter) c.2931C>A (p.Cys977Ter) c.2838C>A (p.Cys946Ter) c.2847C>A (p.Cys949Ter) c.2991C>A (p.Cys997Ter) c.*2700C>A (n.*2700C>A) c.2973C>A (p.Cys991Ter) c.3033C>A (p.Cys1011Ter) c.3027C>A (p.Cys1009Ter) n.2909C>A c.2955C>A (p.Cys985Ter) c.2925C>A (p.Cys975Ter) c.956C>A (n.956C>A) c.3225C>A (p.Cys1075Ter) c.3234C>A (p.Cys1078Ter) c.2580C>A (p.Cys860Ter) c.3024C>A (p.Cys1008Ter) | |
| 9 | g.135784823C>G | CA375518164 | KCNT1 | c.3090C>G (p.Cys1030Trp) c.2931C>G (p.Cys977Trp) c.2838C>G (p.Cys946Trp) c.2847C>G (p.Cys949Trp) c.2991C>G (p.Cys997Trp) c.*2700C>G (n.*2700C>G) c.2973C>G (p.Cys991Trp) c.3033C>G (p.Cys1011Trp) c.3027C>G (p.Cys1009Trp) n.2909C>G c.2955C>G (p.Cys985Trp) c.2925C>G (p.Cys975Trp) c.956C>G (n.956C>G) c.3225C>G (p.Cys1075Trp) c.3234C>G (p.Cys1078Trp) c.2580C>G (p.Cys860Trp) c.3024C>G (p.Cys1008Trp) | |
| 9 | g.135784823C>T | CA467820990 | KCNT1 | c.3090C>T (p.Cys1030=) c.2931C>T (p.Cys977=) c.2838C>T (p.Cys946=) c.2847C>T (p.Cys949=) c.2991C>T (p.Cys997=) c.*2700C>T (n.*2700C>T) c.2973C>T (p.Cys991=) c.3033C>T (p.Cys1011=) c.3027C>T (p.Cys1009=) n.2909C>T c.2955C>T (p.Cys985=) c.2925C>T (p.Cys975=) c.956C>T (n.956C>T) c.3225C>T (p.Cys1075=) c.3234C>T (p.Cys1078=) c.2580C>T (p.Cys860=) c.3024C>T (p.Cys1008=) | |
| 9 | g.135784824T>A | CA375518165 | KCNT1 | c.3091T>A (p.Ser1031Thr) c.2932T>A (p.Ser978Thr) c.2839T>A (p.Ser947Thr) c.2848T>A (p.Ser950Thr) c.2992T>A (p.Ser998Thr) c.*2701T>A (n.*2701T>A) c.2974T>A (p.Ser992Thr) c.3034T>A (p.Ser1012Thr) c.3028T>A (p.Ser1010Thr) n.2910T>A c.2956T>A (p.Ser986Thr) c.2926T>A (p.Ser976Thr) c.957T>A (n.957T>A) c.3226T>A (p.Ser1076Thr) c.3235T>A (p.Ser1079Thr) c.2581T>A (p.Ser861Thr) c.3025T>A (p.Ser1009Thr) | |
| 9 | g.135784824T>C | CA201483776 | KCNT1 | c.3091T>C (p.Ser1031Pro) c.2932T>C (p.Ser978Pro) c.2839T>C (p.Ser947Pro) c.2848T>C (p.Ser950Pro) c.2992T>C (p.Ser998Pro) c.*2701T>C (n.*2701T>C) c.2974T>C (p.Ser992Pro) c.3034T>C (p.Ser1012Pro) c.3028T>C (p.Ser1010Pro) n.2910T>C c.2956T>C (p.Ser986Pro) c.2926T>C (p.Ser976Pro) c.957T>C (n.957T>C) c.3226T>C (p.Ser1076Pro) c.3235T>C (p.Ser1079Pro) c.2581T>C (p.Ser861Pro) c.3025T>C (p.Ser1009Pro) | dbSNP |
| 9 | g.135784824T>G | CA375518166 | KCNT1 | c.3091T>G (p.Ser1031Ala) c.2932T>G (p.Ser978Ala) c.2839T>G (p.Ser947Ala) c.2848T>G (p.Ser950Ala) c.2992T>G (p.Ser998Ala) c.*2701T>G (n.*2701T>G) c.2974T>G (p.Ser992Ala) c.3034T>G (p.Ser1012Ala) c.3028T>G (p.Ser1010Ala) n.2910T>G c.2956T>G (p.Ser986Ala) c.2926T>G (p.Ser976Ala) c.957T>G (n.957T>G) c.3226T>G (p.Ser1076Ala) c.3235T>G (p.Ser1079Ala) c.2581T>G (p.Ser861Ala) c.3025T>G (p.Ser1009Ala) | |
| 9 | g.135784824T= | CA1883884357 | KCNT1 | c.3091T= (p.Ser1031=) c.2932T= (p.Ser978=) c.2839T= (p.Ser947=) c.2848T= (p.Ser950=) c.2992T= (p.Ser998=) c.*2701T= (n.*2701T=) c.2974T= (p.Ser992=) c.3034T= (p.Ser1012=) c.3028T= (p.Ser1010=) n.2910T= c.2956T= (p.Ser986=) c.2926T= (p.Ser976=) c.957T= (n.957T=) c.3226T= (p.Ser1076=) c.3235T= (p.Ser1079=) c.2581T= (p.Ser861=) c.3025T= (p.Ser1009=) | |
| 9 | g.135784825C>A | CA375518167 | KCNT1 | c.3092C>A (p.Ser1031Tyr) c.2933C>A (p.Ser978Tyr) c.2840C>A (p.Ser947Tyr) c.2849C>A (p.Ser950Tyr) c.2993C>A (p.Ser998Tyr) c.*2702C>A (n.*2702C>A) c.2975C>A (p.Ser992Tyr) c.3035C>A (p.Ser1012Tyr) c.3029C>A (p.Ser1010Tyr) n.2911C>A c.2957C>A (p.Ser986Tyr) c.2927C>A (p.Ser976Tyr) c.958C>A (n.958C>A) c.3227C>A (p.Ser1076Tyr) c.3236C>A (p.Ser1079Tyr) c.2582C>A (p.Ser861Tyr) c.3026C>A (p.Ser1009Tyr) | |
| 9 | g.135784825C= | CA1883884363 | KCNT1 | c.3092C= (p.Ser1031=) c.2933C= (p.Ser978=) c.2840C= (p.Ser947=) c.2849C= (p.Ser950=) c.2993C= (p.Ser998=) c.*2702C= (n.*2702C=) c.2975C= (p.Ser992=) c.3035C= (p.Ser1012=) c.3029C= (p.Ser1010=) n.2911C= c.2957C= (p.Ser986=) c.2927C= (p.Ser976=) c.958C= (n.958C=) c.3227C= (p.Ser1076=) c.3236C= (p.Ser1079=) c.2582C= (p.Ser861=) c.3026C= (p.Ser1009=) | |
| 9 | g.135784825C>G | CA201483777 | KCNT1 | c.3092C>G (p.Ser1031Cys) c.2933C>G (p.Ser978Cys) c.2840C>G (p.Ser947Cys) c.2849C>G (p.Ser950Cys) c.2993C>G (p.Ser998Cys) c.*2702C>G (n.*2702C>G) c.2975C>G (p.Ser992Cys) c.3035C>G (p.Ser1012Cys) c.3029C>G (p.Ser1010Cys) n.2911C>G c.2957C>G (p.Ser986Cys) c.2927C>G (p.Ser976Cys) c.958C>G (n.958C>G) c.3227C>G (p.Ser1076Cys) c.3236C>G (p.Ser1079Cys) c.2582C>G (p.Ser861Cys) c.3026C>G (p.Ser1009Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784825C>T | CA5327611 | KCNT1 | c.3092C>T (p.Ser1031Phe) c.2933C>T (p.Ser978Phe) c.2840C>T (p.Ser947Phe) c.2849C>T (p.Ser950Phe) c.2993C>T (p.Ser998Phe) c.*2702C>T (n.*2702C>T) c.2975C>T (p.Ser992Phe) c.3035C>T (p.Ser1012Phe) c.3029C>T (p.Ser1010Phe) n.2911C>T c.2957C>T (p.Ser986Phe) c.2927C>T (p.Ser976Phe) c.958C>T (n.958C>T) c.3227C>T (p.Ser1076Phe) c.3236C>T (p.Ser1079Phe) c.2582C>T (p.Ser861Phe) c.3026C>T (p.Ser1009Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135784826C>A | CA467820992 | KCNT1 | c.3093C>A (p.Ser1031=) c.2934C>A (p.Ser978=) c.2841C>A (p.Ser947=) c.2850C>A (p.Ser950=) c.2994C>A (p.Ser998=) c.*2703C>A (n.*2703C>A) c.2976C>A (p.Ser992=) c.3036C>A (p.Ser1012=) c.3030C>A (p.Ser1010=) n.2912C>A c.2958C>A (p.Ser986=) c.2928C>A (p.Ser976=) c.959C>A (n.959C>A) c.3228C>A (p.Ser1076=) c.3237C>A (p.Ser1079=) c.2583C>A (p.Ser861=) c.3027C>A (p.Ser1009=) | |
| 9 | g.135784826C= | CA1883884368 | KCNT1 | c.3093C= (p.Ser1031=) c.2934C= (p.Ser978=) c.2841C= (p.Ser947=) c.2850C= (p.Ser950=) c.2994C= (p.Ser998=) c.*2703C= (n.*2703C=) c.2976C= (p.Ser992=) c.3036C= (p.Ser1012=) c.3030C= (p.Ser1010=) n.2912C= c.2958C= (p.Ser986=) c.2928C= (p.Ser976=) c.959C= (n.959C=) c.3228C= (p.Ser1076=) c.3237C= (p.Ser1079=) c.2583C= (p.Ser861=) c.3027C= (p.Ser1009=) | |
| 9 | g.135784826C>G | CA467820993 | KCNT1 | c.3093C>G (p.Ser1031=) c.2934C>G (p.Ser978=) c.2841C>G (p.Ser947=) c.2850C>G (p.Ser950=) c.2994C>G (p.Ser998=) c.*2703C>G (n.*2703C>G) c.2976C>G (p.Ser992=) c.3036C>G (p.Ser1012=) c.3030C>G (p.Ser1010=) n.2912C>G c.2958C>G (p.Ser986=) c.2928C>G (p.Ser976=) c.959C>G (n.959C>G) c.3228C>G (p.Ser1076=) c.3237C>G (p.Ser1079=) c.2583C>G (p.Ser861=) c.3027C>G (p.Ser1009=) | gnomAD v4 |
| 9 | g.135784826C>T | CA467820994 | KCNT1 | c.3093C>T (p.Ser1031=) c.2934C>T (p.Ser978=) c.2841C>T (p.Ser947=) c.2850C>T (p.Ser950=) c.2994C>T (p.Ser998=) c.*2703C>T (n.*2703C>T) c.2976C>T (p.Ser992=) c.3036C>T (p.Ser1012=) c.3030C>T (p.Ser1010=) n.2912C>T c.2958C>T (p.Ser986=) c.2928C>T (p.Ser976=) c.959C>T (n.959C>T) c.3228C>T (p.Ser1076=) c.3237C>T (p.Ser1079=) c.2583C>T (p.Ser861=) c.3027C>T (p.Ser1009=) | dbSNP |
| 9 | g.135784827T>A | CA375518168 | KCNT1 | c.3094T>A (p.Ser1032Thr) c.2935T>A (p.Ser979Thr) c.2842T>A (p.Ser948Thr) c.2851T>A (p.Ser951Thr) c.2995T>A (p.Ser999Thr) c.*2704T>A (n.*2704T>A) c.2977T>A (p.Ser993Thr) c.3037T>A (p.Ser1013Thr) c.3031T>A (p.Ser1011Thr) n.2913T>A c.2959T>A (p.Ser987Thr) c.2929T>A (p.Ser977Thr) c.960T>A (n.960T>A) c.3229T>A (p.Ser1077Thr) c.3238T>A (p.Ser1080Thr) c.2584T>A (p.Ser862Thr) c.3028T>A (p.Ser1010Thr) | |
| 9 | g.135784827T>C | CA375518170 | KCNT1 | c.3094T>C (p.Ser1032Pro) c.2935T>C (p.Ser979Pro) c.2842T>C (p.Ser948Pro) c.2851T>C (p.Ser951Pro) c.2995T>C (p.Ser999Pro) c.*2704T>C (n.*2704T>C) c.2977T>C (p.Ser993Pro) c.3037T>C (p.Ser1013Pro) c.3031T>C (p.Ser1011Pro) n.2913T>C c.2959T>C (p.Ser987Pro) c.2929T>C (p.Ser977Pro) c.960T>C (n.960T>C) c.3229T>C (p.Ser1077Pro) c.3238T>C (p.Ser1080Pro) c.2584T>C (p.Ser862Pro) c.3028T>C (p.Ser1010Pro) | |
| 9 | g.135784827T>G | CA375518169 | KCNT1 | c.3094T>G (p.Ser1032Ala) c.2935T>G (p.Ser979Ala) c.2842T>G (p.Ser948Ala) c.2851T>G (p.Ser951Ala) c.2995T>G (p.Ser999Ala) c.*2704T>G (n.*2704T>G) c.2977T>G (p.Ser993Ala) c.3037T>G (p.Ser1013Ala) c.3031T>G (p.Ser1011Ala) n.2913T>G c.2959T>G (p.Ser987Ala) c.2929T>G (p.Ser977Ala) c.960T>G (n.960T>G) c.3229T>G (p.Ser1077Ala) c.3238T>G (p.Ser1080Ala) c.2584T>G (p.Ser862Ala) c.3028T>G (p.Ser1010Ala) | |
| 9 | g.135784828C>A | CA375518171 | KCNT1 | c.3095C>A (p.Ser1032Tyr) c.2936C>A (p.Ser979Tyr) c.2843C>A (p.Ser948Tyr) c.2852C>A (p.Ser951Tyr) c.2996C>A (p.Ser999Tyr) c.*2705C>A (n.*2705C>A) c.2978C>A (p.Ser993Tyr) c.3038C>A (p.Ser1013Tyr) c.3032C>A (p.Ser1011Tyr) n.2914C>A c.2960C>A (p.Ser987Tyr) c.2930C>A (p.Ser977Tyr) c.961C>A (n.961C>A) c.3230C>A (p.Ser1077Tyr) c.3239C>A (p.Ser1080Tyr) c.2585C>A (p.Ser862Tyr) c.3029C>A (p.Ser1010Tyr) | |
| 9 | g.135784828C= | CA1883884371 | KCNT1 | c.3095C= (p.Ser1032=) c.2936C= (p.Ser979=) c.2843C= (p.Ser948=) c.2852C= (p.Ser951=) c.2996C= (p.Ser999=) c.*2705C= (n.*2705C=) c.2978C= (p.Ser993=) c.3038C= (p.Ser1013=) c.3032C= (p.Ser1011=) n.2914C= c.2960C= (p.Ser987=) c.2930C= (p.Ser977=) c.961C= (n.961C=) c.3230C= (p.Ser1077=) c.3239C= (p.Ser1080=) c.2585C= (p.Ser862=) c.3029C= (p.Ser1010=) | |
| 9 | g.135784828C>G | CA375518172 | KCNT1 | c.3095C>G (p.Ser1032Cys) c.2936C>G (p.Ser979Cys) c.2843C>G (p.Ser948Cys) c.2852C>G (p.Ser951Cys) c.2996C>G (p.Ser999Cys) c.*2705C>G (n.*2705C>G) c.2978C>G (p.Ser993Cys) c.3038C>G (p.Ser1013Cys) c.3032C>G (p.Ser1011Cys) n.2914C>G c.2960C>G (p.Ser987Cys) c.2930C>G (p.Ser977Cys) c.961C>G (n.961C>G) c.3230C>G (p.Ser1077Cys) c.3239C>G (p.Ser1080Cys) c.2585C>G (p.Ser862Cys) c.3029C>G (p.Ser1010Cys) | dbSNP gnomAD v4 |
| 9 | g.135784828C>T | CA375518173 | KCNT1 | c.3095C>T (p.Ser1032Phe) c.2936C>T (p.Ser979Phe) c.2843C>T (p.Ser948Phe) c.2852C>T (p.Ser951Phe) c.2996C>T (p.Ser999Phe) c.*2705C>T (n.*2705C>T) c.2978C>T (p.Ser993Phe) c.3038C>T (p.Ser1013Phe) c.3032C>T (p.Ser1011Phe) n.2914C>T c.2960C>T (p.Ser987Phe) c.2930C>T (p.Ser977Phe) c.961C>T (n.961C>T) c.3230C>T (p.Ser1077Phe) c.3239C>T (p.Ser1080Phe) c.2585C>T (p.Ser862Phe) c.3029C>T (p.Ser1010Phe) | |
| 9 | g.135784829C>A | CA467820999 | KCNT1 | c.3096C>A (p.Ser1032=) c.2937C>A (p.Ser979=) c.2844C>A (p.Ser948=) c.2853C>A (p.Ser951=) c.2997C>A (p.Ser999=) c.*2706C>A (n.*2706C>A) c.2979C>A (p.Ser993=) c.3039C>A (p.Ser1013=) c.3033C>A (p.Ser1011=) n.2915C>A c.2961C>A (p.Ser987=) c.2931C>A (p.Ser977=) c.962C>A (n.962C>A) c.3231C>A (p.Ser1077=) c.3240C>A (p.Ser1080=) c.2586C>A (p.Ser862=) c.3030C>A (p.Ser1010=) | gnomAD v4 |
| 9 | g.135784829C= | CA1883884375 | KCNT1 | c.3096C= (p.Ser1032=) c.2937C= (p.Ser979=) c.2844C= (p.Ser948=) c.2853C= (p.Ser951=) c.2997C= (p.Ser999=) c.*2706C= (n.*2706C=) c.2979C= (p.Ser993=) c.3039C= (p.Ser1013=) c.3033C= (p.Ser1011=) n.2915C= c.2961C= (p.Ser987=) c.2931C= (p.Ser977=) c.962C= (n.962C=) c.3231C= (p.Ser1077=) c.3240C= (p.Ser1080=) c.2586C= (p.Ser862=) c.3030C= (p.Ser1010=) | |
| 9 | g.135784829C>G | CA467820998 | KCNT1 | c.3096C>G (p.Ser1032=) c.2937C>G (p.Ser979=) c.2844C>G (p.Ser948=) c.2853C>G (p.Ser951=) c.2997C>G (p.Ser999=) c.*2706C>G (n.*2706C>G) c.2979C>G (p.Ser993=) c.3039C>G (p.Ser1013=) c.3033C>G (p.Ser1011=) n.2915C>G c.2961C>G (p.Ser987=) c.2931C>G (p.Ser977=) c.962C>G (n.962C>G) c.3231C>G (p.Ser1077=) c.3240C>G (p.Ser1080=) c.2586C>G (p.Ser862=) c.3030C>G (p.Ser1010=) | |
| 9 | g.135784829C>T | CA467820997 | KCNT1 | c.3096C>T (p.Ser1032=) c.2937C>T (p.Ser979=) c.2844C>T (p.Ser948=) c.2853C>T (p.Ser951=) c.2997C>T (p.Ser999=) c.*2706C>T (n.*2706C>T) c.2979C>T (p.Ser993=) c.3039C>T (p.Ser1013=) c.3033C>T (p.Ser1011=) n.2915C>T c.2961C>T (p.Ser987=) c.2931C>T (p.Ser977=) c.962C>T (n.962C>T) c.3231C>T (p.Ser1077=) c.3240C>T (p.Ser1080=) c.2586C>T (p.Ser862=) c.3030C>T (p.Ser1010=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784830A>C | CA375518174 | KCNT1 | c.3097A>C (p.Ser1033Arg) c.2938A>C (p.Ser980Arg) c.2845A>C (p.Ser949Arg) c.2854A>C (p.Ser952Arg) c.2998A>C (p.Ser1000Arg) c.*2707A>C (n.*2707A>C) c.2980A>C (p.Ser994Arg) c.3040A>C (p.Ser1014Arg) c.3034A>C (p.Ser1012Arg) n.2916A>C c.2962A>C (p.Ser988Arg) c.2932A>C (p.Ser978Arg) c.963A>C (n.963A>C) c.3232A>C (p.Ser1078Arg) c.3241A>C (p.Ser1081Arg) c.2587A>C (p.Ser863Arg) c.3031A>C (p.Ser1011Arg) | |
| 9 | g.135784830A>G | CA375518175 | KCNT1 | c.3097A>G (p.Ser1033Gly) c.2938A>G (p.Ser980Gly) c.2845A>G (p.Ser949Gly) c.2854A>G (p.Ser952Gly) c.2998A>G (p.Ser1000Gly) c.*2707A>G (n.*2707A>G) c.2980A>G (p.Ser994Gly) c.3040A>G (p.Ser1014Gly) c.3034A>G (p.Ser1012Gly) n.2916A>G c.2962A>G (p.Ser988Gly) c.2932A>G (p.Ser978Gly) c.963A>G (n.963A>G) c.3232A>G (p.Ser1078Gly) c.3241A>G (p.Ser1081Gly) c.2587A>G (p.Ser863Gly) c.3031A>G (p.Ser1011Gly) | gnomAD v4 |
| 9 | g.135784830A>T | CA375518176 | KCNT1 | c.3097A>T (p.Ser1033Cys) c.2938A>T (p.Ser980Cys) c.2845A>T (p.Ser949Cys) c.2854A>T (p.Ser952Cys) c.2998A>T (p.Ser1000Cys) c.*2707A>T (n.*2707A>T) c.2980A>T (p.Ser994Cys) c.3040A>T (p.Ser1014Cys) c.3034A>T (p.Ser1012Cys) n.2916A>T c.2962A>T (p.Ser988Cys) c.2932A>T (p.Ser978Cys) c.963A>T (n.963A>T) c.3232A>T (p.Ser1078Cys) c.3241A>T (p.Ser1081Cys) c.2587A>T (p.Ser863Cys) c.3031A>T (p.Ser1011Cys) | |
| 9 | g.135784831G>A | CA375518177 | KCNT1 | c.3098G>A (p.Ser1033Asn) c.2939G>A (p.Ser980Asn) c.2846G>A (p.Ser949Asn) c.2855G>A (p.Ser952Asn) c.2999G>A (p.Ser1000Asn) c.*2708G>A (n.*2708G>A) c.2981G>A (p.Ser994Asn) c.3041G>A (p.Ser1014Asn) c.3035G>A (p.Ser1012Asn) n.2917G>A c.2963G>A (p.Ser988Asn) c.2933G>A (p.Ser978Asn) c.964G>A (n.964G>A) c.3233G>A (p.Ser1078Asn) c.3242G>A (p.Ser1081Asn) c.2588G>A (p.Ser863Asn) c.3032G>A (p.Ser1011Asn) | |
| 9 | g.135784831G>C | CA375518178 | KCNT1 | c.3098G>C (p.Ser1033Thr) c.2939G>C (p.Ser980Thr) c.2846G>C (p.Ser949Thr) c.2855G>C (p.Ser952Thr) c.2999G>C (p.Ser1000Thr) c.*2708G>C (n.*2708G>C) c.2981G>C (p.Ser994Thr) c.3041G>C (p.Ser1014Thr) c.3035G>C (p.Ser1012Thr) n.2917G>C c.2963G>C (p.Ser988Thr) c.2933G>C (p.Ser978Thr) c.964G>C (n.964G>C) c.3233G>C (p.Ser1078Thr) c.3242G>C (p.Ser1081Thr) c.2588G>C (p.Ser863Thr) c.3032G>C (p.Ser1011Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784831G= | CA1883884384 | KCNT1 | c.3098G= (p.Ser1033=) c.2939G= (p.Ser980=) c.2846G= (p.Ser949=) c.2855G= (p.Ser952=) c.2999G= (p.Ser1000=) c.*2708G= (n.*2708G=) c.2981G= (p.Ser994=) c.3041G= (p.Ser1014=) c.3035G= (p.Ser1012=) n.2917G= c.2963G= (p.Ser988=) c.2933G= (p.Ser978=) c.964G= (n.964G=) c.3233G= (p.Ser1078=) c.3242G= (p.Ser1081=) c.2588G= (p.Ser863=) c.3032G= (p.Ser1011=) | |
| 9 | g.135784831G>T | CA375518179 | KCNT1 | c.3098G>T (p.Ser1033Ile) c.2939G>T (p.Ser980Ile) c.2846G>T (p.Ser949Ile) c.2855G>T (p.Ser952Ile) c.2999G>T (p.Ser1000Ile) c.*2708G>T (n.*2708G>T) c.2981G>T (p.Ser994Ile) c.3041G>T (p.Ser1014Ile) c.3035G>T (p.Ser1012Ile) n.2917G>T c.2963G>T (p.Ser988Ile) c.2933G>T (p.Ser978Ile) c.964G>T (n.964G>T) c.3233G>T (p.Ser1078Ile) c.3242G>T (p.Ser1081Ile) c.2588G>T (p.Ser863Ile) c.3032G>T (p.Ser1011Ile) | |
| 9 | g.135784832C>A | CA375518180 | KCNT1 | c.3099C>A (p.Ser1033Arg) c.2940C>A (p.Ser980Arg) c.2847C>A (p.Ser949Arg) c.2856C>A (p.Ser952Arg) c.3000C>A (p.Ser1000Arg) c.*2709C>A (n.*2709C>A) c.2982C>A (p.Ser994Arg) c.3042C>A (p.Ser1014Arg) c.3036C>A (p.Ser1012Arg) n.2918C>A c.2964C>A (p.Ser988Arg) c.2934C>A (p.Ser978Arg) c.965C>A (n.965C>A) c.3234C>A (p.Ser1078Arg) c.3243C>A (p.Ser1081Arg) c.2589C>A (p.Ser863Arg) c.3033C>A (p.Ser1011Arg) | |
| 9 | g.135784832C= | CA1883884394 | KCNT1 | c.3099C= (p.Ser1033=) c.2940C= (p.Ser980=) c.2847C= (p.Ser949=) c.2856C= (p.Ser952=) c.3000C= (p.Ser1000=) c.*2709C= (n.*2709C=) c.2982C= (p.Ser994=) c.3042C= (p.Ser1014=) c.3036C= (p.Ser1012=) n.2918C= c.2964C= (p.Ser988=) c.2934C= (p.Ser978=) c.965C= (n.965C=) c.3234C= (p.Ser1078=) c.3243C= (p.Ser1081=) c.2589C= (p.Ser863=) c.3033C= (p.Ser1011=) | |
| 9 | g.135784832C>G | CA375518181 | KCNT1 | c.3099C>G (p.Ser1033Arg) c.2940C>G (p.Ser980Arg) c.2847C>G (p.Ser949Arg) c.2856C>G (p.Ser952Arg) c.3000C>G (p.Ser1000Arg) c.*2709C>G (n.*2709C>G) c.2982C>G (p.Ser994Arg) c.3042C>G (p.Ser1014Arg) c.3036C>G (p.Ser1012Arg) n.2918C>G c.2964C>G (p.Ser988Arg) c.2934C>G (p.Ser978Arg) c.965C>G (n.965C>G) c.3234C>G (p.Ser1078Arg) c.3243C>G (p.Ser1081Arg) c.2589C>G (p.Ser863Arg) c.3033C>G (p.Ser1011Arg) | |
| 9 | g.135784832C>T | CA5327612 | KCNT1 | c.3099C>T (p.Ser1033=) c.2940C>T (p.Ser980=) c.2847C>T (p.Ser949=) c.2856C>T (p.Ser952=) c.3000C>T (p.Ser1000=) c.*2709C>T (n.*2709C>T) c.2982C>T (p.Ser994=) c.3042C>T (p.Ser1014=) c.3036C>T (p.Ser1012=) n.2918C>T c.2964C>T (p.Ser988=) c.2934C>T (p.Ser978=) c.965C>T (n.965C>T) c.3234C>T (p.Ser1078=) c.3243C>T (p.Ser1081=) c.2589C>T (p.Ser863=) c.3033C>T (p.Ser1011=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784833G>A | CA5327613 | KCNT1 | c.3100G>A (p.Ala1034Thr) c.2941G>A (p.Ala981Thr) c.2848G>A (p.Ala950Thr) c.2857G>A (p.Ala953Thr) c.3001G>A (p.Ala1001Thr) c.*2710G>A (n.*2710G>A) c.2983G>A (p.Ala995Thr) c.3043G>A (p.Ala1015Thr) c.3037G>A (p.Ala1013Thr) n.2919G>A c.2965G>A (p.Ala989Thr) c.2935G>A (p.Ala979Thr) c.966G>A (n.966G>A) c.3235G>A (p.Ala1079Thr) c.3244G>A (p.Ala1082Thr) c.2590G>A (p.Ala864Thr) c.3034G>A (p.Ala1012Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784833G>C | CA375518182 | KCNT1 | c.3100G>C (p.Ala1034Pro) c.2941G>C (p.Ala981Pro) c.2848G>C (p.Ala950Pro) c.2857G>C (p.Ala953Pro) c.3001G>C (p.Ala1001Pro) c.*2710G>C (n.*2710G>C) c.2983G>C (p.Ala995Pro) c.3043G>C (p.Ala1015Pro) c.3037G>C (p.Ala1013Pro) n.2919G>C c.2965G>C (p.Ala989Pro) c.2935G>C (p.Ala979Pro) c.966G>C (n.966G>C) c.3235G>C (p.Ala1079Pro) c.3244G>C (p.Ala1082Pro) c.2590G>C (p.Ala864Pro) c.3034G>C (p.Ala1012Pro) | |
| 9 | g.135784833G= | CA1883884402 | KCNT1 | c.3100G= (p.Ala1034=) c.2941G= (p.Ala981=) c.2848G= (p.Ala950=) c.2857G= (p.Ala953=) c.3001G= (p.Ala1001=) c.*2710G= (n.*2710G=) c.2983G= (p.Ala995=) c.3043G= (p.Ala1015=) c.3037G= (p.Ala1013=) n.2919G= c.2965G= (p.Ala989=) c.2935G= (p.Ala979=) c.966G= (n.966G=) c.3235G= (p.Ala1079=) c.3244G= (p.Ala1082=) c.2590G= (p.Ala864=) c.3034G= (p.Ala1012=) | |
| 9 | g.135784833G>T | CA375518183 | KCNT1 | c.3100G>T (p.Ala1034Ser) c.2941G>T (p.Ala981Ser) c.2848G>T (p.Ala950Ser) c.2857G>T (p.Ala953Ser) c.3001G>T (p.Ala1001Ser) c.*2710G>T (n.*2710G>T) c.2983G>T (p.Ala995Ser) c.3043G>T (p.Ala1015Ser) c.3037G>T (p.Ala1013Ser) n.2919G>T c.2965G>T (p.Ala989Ser) c.2935G>T (p.Ala979Ser) c.966G>T (n.966G>T) c.3235G>T (p.Ala1079Ser) c.3244G>T (p.Ala1082Ser) c.2590G>T (p.Ala864Ser) c.3034G>T (p.Ala1012Ser) | |
| 9 | g.135784834C>A | CA375518184 | KCNT1 | c.3101C>A (p.Ala1034Asp) c.2942C>A (p.Ala981Asp) c.2849C>A (p.Ala950Asp) c.2858C>A (p.Ala953Asp) c.3002C>A (p.Ala1001Asp) c.*2711C>A (n.*2711C>A) c.2984C>A (p.Ala995Asp) c.3044C>A (p.Ala1015Asp) c.3038C>A (p.Ala1013Asp) n.2920C>A c.2966C>A (p.Ala989Asp) c.2936C>A (p.Ala979Asp) c.967C>A (n.967C>A) c.3236C>A (p.Ala1079Asp) c.3245C>A (p.Ala1082Asp) c.2591C>A (p.Ala864Asp) c.3035C>A (p.Ala1012Asp) | |
| 9 | g.135784834C>G | CA375518185 | KCNT1 | c.3101C>G (p.Ala1034Gly) c.2942C>G (p.Ala981Gly) c.2849C>G (p.Ala950Gly) c.2858C>G (p.Ala953Gly) c.3002C>G (p.Ala1001Gly) c.*2711C>G (n.*2711C>G) c.2984C>G (p.Ala995Gly) c.3044C>G (p.Ala1015Gly) c.3038C>G (p.Ala1013Gly) n.2920C>G c.2966C>G (p.Ala989Gly) c.2936C>G (p.Ala979Gly) c.967C>G (n.967C>G) c.3236C>G (p.Ala1079Gly) c.3245C>G (p.Ala1082Gly) c.2591C>G (p.Ala864Gly) c.3035C>G (p.Ala1012Gly) | |
| 9 | g.135784834C>T | CA375518186 | KCNT1 | c.3101C>T (p.Ala1034Val) c.2942C>T (p.Ala981Val) c.2849C>T (p.Ala950Val) c.2858C>T (p.Ala953Val) c.3002C>T (p.Ala1001Val) c.*2711C>T (n.*2711C>T) c.2984C>T (p.Ala995Val) c.3044C>T (p.Ala1015Val) c.3038C>T (p.Ala1013Val) n.2920C>T c.2966C>T (p.Ala989Val) c.2936C>T (p.Ala979Val) c.967C>T (n.967C>T) c.3236C>T (p.Ala1079Val) c.3245C>T (p.Ala1082Val) c.2591C>T (p.Ala864Val) c.3035C>T (p.Ala1012Val) | |
| 9 | g.135784836_135784844del | CA645541869 | KCNT1 | c.3103_3111del (p.Glu1035_Pro1037del) c.2944_2952del (p.Glu982_Pro984del) c.2851_2859del (p.Glu951_Pro953del) c.2860_2868del (p.Glu954_Pro956del) c.3004_3012del (p.Glu1002_Pro1004del) c.*2713_*2721del (n.*2713_*2721del) c.2986_2994del (p.Glu996_Pro998del) c.3046_3054del (p.Glu1016_Pro1018del) c.3040_3048del (p.Glu1014_Pro1016del) n.2922_2930del c.2968_2976del (p.Glu990_Pro992del) c.2938_2946del (p.Glu980_Pro982del) c.969_977del (n.969_977del) c.3238_3246del (p.Glu1080_Pro1082del) c.3247_3255del (p.Glu1083_Pro1085del) c.2593_2601del (p.Glu865_Pro867del) c.3037_3045del (p.Glu1013_Pro1015del) | COSMIC COSMIC |
| 9 | g.135784835C>A | CA467821003 | KCNT1 | c.3102C>A (p.Ala1034=) c.2943C>A (p.Ala981=) c.2850C>A (p.Ala950=) c.2859C>A (p.Ala953=) c.3003C>A (p.Ala1001=) c.*2712C>A (n.*2712C>A) c.2985C>A (p.Ala995=) c.3045C>A (p.Ala1015=) c.3039C>A (p.Ala1013=) n.2921C>A c.2967C>A (p.Ala989=) c.2937C>A (p.Ala979=) c.968C>A (n.968C>A) c.3237C>A (p.Ala1079=) c.3246C>A (p.Ala1082=) c.2592C>A (p.Ala864=) c.3036C>A (p.Ala1012=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784835C= | CA1883884407 | KCNT1 | c.3102C= (p.Ala1034=) c.2943C= (p.Ala981=) c.2850C= (p.Ala950=) c.2859C= (p.Ala953=) c.3003C= (p.Ala1001=) c.*2712C= (n.*2712C=) c.2985C= (p.Ala995=) c.3045C= (p.Ala1015=) c.3039C= (p.Ala1013=) n.2921C= c.2967C= (p.Ala989=) c.2937C= (p.Ala979=) c.968C= (n.968C=) c.3237C= (p.Ala1079=) c.3246C= (p.Ala1082=) c.2592C= (p.Ala864=) c.3036C= (p.Ala1012=) | |
| 9 | g.135784835C>G | CA467821004 | KCNT1 | c.3102C>G (p.Ala1034=) c.2943C>G (p.Ala981=) c.2850C>G (p.Ala950=) c.2859C>G (p.Ala953=) c.3003C>G (p.Ala1001=) c.*2712C>G (n.*2712C>G) c.2985C>G (p.Ala995=) c.3045C>G (p.Ala1015=) c.3039C>G (p.Ala1013=) n.2921C>G c.2967C>G (p.Ala989=) c.2937C>G (p.Ala979=) c.968C>G (n.968C>G) c.3237C>G (p.Ala1079=) c.3246C>G (p.Ala1082=) c.2592C>G (p.Ala864=) c.3036C>G (p.Ala1012=) | gnomAD v4 |
| 9 | g.135784835C>T | CA467821005 | KCNT1 | c.3102C>T (p.Ala1034=) c.2943C>T (p.Ala981=) c.2850C>T (p.Ala950=) c.2859C>T (p.Ala953=) c.3003C>T (p.Ala1001=) c.*2712C>T (n.*2712C>T) c.2985C>T (p.Ala995=) c.3045C>T (p.Ala1015=) c.3039C>T (p.Ala1013=) n.2921C>T c.2967C>T (p.Ala989=) c.2937C>T (p.Ala979=) c.968C>T (n.968C>T) c.3237C>T (p.Ala1079=) c.3246C>T (p.Ala1082=) c.2592C>T (p.Ala864=) c.3036C>T (p.Ala1012=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135784836G>A | CA5327614 | KCNT1 | c.3103G>A (p.Glu1035Lys) c.2944G>A (p.Glu982Lys) c.2851G>A (p.Glu951Lys) c.2860G>A (p.Glu954Lys) c.3004G>A (p.Glu1002Lys) c.*2713G>A (n.*2713G>A) c.2986G>A (p.Glu996Lys) c.3046G>A (p.Glu1016Lys) c.3040G>A (p.Glu1014Lys) n.2922G>A c.2968G>A (p.Glu990Lys) c.2938G>A (p.Glu980Lys) c.969G>A (n.969G>A) c.3238G>A (p.Glu1080Lys) c.3247G>A (p.Glu1083Lys) c.2593G>A (p.Glu865Lys) c.3037G>A (p.Glu1013Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135784836G>C | CA375518187 | KCNT1 | c.3103G>C (p.Glu1035Gln) c.2944G>C (p.Glu982Gln) c.2851G>C (p.Glu951Gln) c.2860G>C (p.Glu954Gln) c.3004G>C (p.Glu1002Gln) c.*2713G>C (n.*2713G>C) c.2986G>C (p.Glu996Gln) c.3046G>C (p.Glu1016Gln) c.3040G>C (p.Glu1014Gln) n.2922G>C c.2968G>C (p.Glu990Gln) c.2938G>C (p.Glu980Gln) c.969G>C (n.969G>C) c.3238G>C (p.Glu1080Gln) c.3247G>C (p.Glu1083Gln) c.2593G>C (p.Glu865Gln) c.3037G>C (p.Glu1013Gln) | |
| 9 | g.135784836G= | CA1883884412 | KCNT1 | c.3103G= (p.Glu1035=) c.2944G= (p.Glu982=) c.2851G= (p.Glu951=) c.2860G= (p.Glu954=) c.3004G= (p.Glu1002=) c.*2713G= (n.*2713G=) c.2986G= (p.Glu996=) c.3046G= (p.Glu1016=) c.3040G= (p.Glu1014=) n.2922G= c.2968G= (p.Glu990=) c.2938G= (p.Glu980=) c.969G= (n.969G=) c.3238G= (p.Glu1080=) c.3247G= (p.Glu1083=) c.2593G= (p.Glu865=) c.3037G= (p.Glu1013=) | |
| 9 | g.135784836G>T | CA375518188 | KCNT1 | c.3103G>T (p.Glu1035Ter) c.2944G>T (p.Glu982Ter) c.2851G>T (p.Glu951Ter) c.2860G>T (p.Glu954Ter) c.3004G>T (p.Glu1002Ter) c.*2713G>T (n.*2713G>T) c.2986G>T (p.Glu996Ter) c.3046G>T (p.Glu1016Ter) c.3040G>T (p.Glu1014Ter) n.2922G>T c.2968G>T (p.Glu990Ter) c.2938G>T (p.Glu980Ter) c.969G>T (n.969G>T) c.3238G>T (p.Glu1080Ter) c.3247G>T (p.Glu1083Ter) c.2593G>T (p.Glu865Ter) c.3037G>T (p.Glu1013Ter) |