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.135791766_135791770delinsGGTGA | CA1883892450 | KCNT1 | c.3503-31_3503-27delinsGGTGA (n.3503-31_3503-27delinsGGTGA) c.3407-31_3407-27delinsGGTGA (n.3407-31_3407-27delinsGGTGA) c.3251-31_3251-27delinsGGTGA (n.3251-31_3251-27delinsGGTGA) c.3314-31_3314-27delinsGGTGA (n.3314-31_3314-27delinsGGTGA) c.3323-31_3323-27delinsGGTGA (n.3323-31_3323-27delinsGGTGA) c.3467-31_3467-27delinsGGTGA (n.3467-31_3467-27delinsGGTGA) c.*3176-31_*3176-27delinsGGTGA (n.*3176-31_*3176-27delinsGGTGA) n.2778_2782delinsGGTGA c.3449-31_3449-27delinsGGTGA (n.3449-31_3449-27delinsGGTGA) c.3566-31_3566-27delinsGGTGA (n.3566-31_3566-27delinsGGTGA) c.3488-31_3488-27delinsGGTGA (n.3488-31_3488-27delinsGGTGA) c.3446-31_3446-27delinsGGTGA (n.3446-31_3446-27delinsGGTGA) c.3431-31_3431-27delinsGGTGA (n.3431-31_3431-27delinsGGTGA) c.3401-31_3401-27delinsGGTGA (n.3401-31_3401-27delinsGGTGA) c.3509-31_3509-27delinsGGTGA (n.3509-31_3509-27delinsGGTGA) c.3701-31_3701-27delinsGGTGA (n.3701-31_3701-27delinsGGTGA) c.3647-31_3647-27delinsGGTGA (n.3647-31_3647-27delinsGGTGA) c.3638-31_3638-27delinsGGTGA (n.3638-31_3638-27delinsGGTGA) c.3056-31_3056-27delinsGGTGA (n.3056-31_3056-27delinsGGTGA) c.3500-31_3500-27delinsGGTGA (n.3500-31_3500-27delinsGGTGA) n.20_24delinsTCACC | |
| 9 | g.135791767_135791768delinsGT | CA1883892452 | KCNT1 | c.3503-30_3503-29delinsGT (n.3503-30_3503-29delinsGT) c.3407-30_3407-29delinsGT (n.3407-30_3407-29delinsGT) c.3251-30_3251-29delinsGT (n.3251-30_3251-29delinsGT) c.3314-30_3314-29delinsGT (n.3314-30_3314-29delinsGT) c.3323-30_3323-29delinsGT (n.3323-30_3323-29delinsGT) c.3467-30_3467-29delinsGT (n.3467-30_3467-29delinsGT) c.*3176-30_*3176-29delinsGT (n.*3176-30_*3176-29delinsGT) n.2779_2780delinsGT c.3449-30_3449-29delinsGT (n.3449-30_3449-29delinsGT) c.3566-30_3566-29delinsGT (n.3566-30_3566-29delinsGT) c.3488-30_3488-29delinsGT (n.3488-30_3488-29delinsGT) c.3446-30_3446-29delinsGT (n.3446-30_3446-29delinsGT) c.3431-30_3431-29delinsGT (n.3431-30_3431-29delinsGT) c.3401-30_3401-29delinsGT (n.3401-30_3401-29delinsGT) c.3509-30_3509-29delinsGT (n.3509-30_3509-29delinsGT) c.3701-30_3701-29delinsGT (n.3701-30_3701-29delinsGT) c.3647-30_3647-29delinsGT (n.3647-30_3647-29delinsGT) c.3638-30_3638-29delinsGT (n.3638-30_3638-29delinsGT) c.3056-30_3056-29delinsGT (n.3056-30_3056-29delinsGT) c.3500-30_3500-29delinsGT (n.3500-30_3500-29delinsGT) n.22_23delinsAC | |
| 9 | g.135791767_135791770del | CA591365064 | KCNT1 | c.3503-30_3503-27del (n.3503-30_3503-27del) c.3407-30_3407-27del (n.3407-30_3407-27del) c.3251-30_3251-27del (n.3251-30_3251-27del) c.3314-30_3314-27del (n.3314-30_3314-27del) c.3323-30_3323-27del (n.3323-30_3323-27del) c.3467-30_3467-27del (n.3467-30_3467-27del) c.*3176-30_*3176-27del (n.*3176-30_*3176-27del) n.2779_2782del c.3449-30_3449-27del (n.3449-30_3449-27del) c.3566-30_3566-27del (n.3566-30_3566-27del) c.3488-30_3488-27del (n.3488-30_3488-27del) c.3446-30_3446-27del (n.3446-30_3446-27del) c.3431-30_3431-27del (n.3431-30_3431-27del) c.3401-30_3401-27del (n.3401-30_3401-27del) c.3509-30_3509-27del (n.3509-30_3509-27del) c.3701-30_3701-27del (n.3701-30_3701-27del) c.3647-30_3647-27del (n.3647-30_3647-27del) c.3638-30_3638-27del (n.3638-30_3638-27del) c.3056-30_3056-27del (n.3056-30_3056-27del) c.3500-30_3500-27del (n.3500-30_3500-27del) n.20_23del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791768del | CA1883892453 | KCNT1 | c.3503-29del (n.3503-29del) c.3407-29del (n.3407-29del) c.3251-29del (n.3251-29del) c.3314-29del (n.3314-29del) c.3323-29del (n.3323-29del) c.3467-29del (n.3467-29del) c.*3176-29del (n.*3176-29del) n.2780del c.3449-29del (n.3449-29del) c.3566-29del (n.3566-29del) c.3488-29del (n.3488-29del) c.3446-29del (n.3446-29del) c.3431-29del (n.3431-29del) c.3401-29del (n.3401-29del) c.3509-29del (n.3509-29del) c.3701-29del (n.3701-29del) c.3647-29del (n.3647-29del) c.3638-29del (n.3638-29del) c.3056-29del (n.3056-29del) c.3500-29del (n.3500-29del) n.22del | dbSNP gnomAD v4 |
| 9 | g.135791768T>C | CA5327923 | KCNT1 | c.3503-29T>C (n.3503-29T>C) c.3407-29T>C (n.3407-29T>C) c.3251-29T>C (n.3251-29T>C) c.3314-29T>C (n.3314-29T>C) c.3323-29T>C (n.3323-29T>C) c.3467-29T>C (n.3467-29T>C) c.*3176-29T>C (n.*3176-29T>C) n.2780T>C c.3449-29T>C (n.3449-29T>C) c.3566-29T>C (n.3566-29T>C) c.3488-29T>C (n.3488-29T>C) c.3446-29T>C (n.3446-29T>C) c.3431-29T>C (n.3431-29T>C) c.3401-29T>C (n.3401-29T>C) c.3509-29T>C (n.3509-29T>C) c.3701-29T>C (n.3701-29T>C) c.3647-29T>C (n.3647-29T>C) c.3638-29T>C (n.3638-29T>C) c.3056-29T>C (n.3056-29T>C) c.3500-29T>C (n.3500-29T>C) n.22A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791768T>G | CA1883892455 | KCNT1 | c.3503-29T>G (n.3503-29T>G) c.3407-29T>G (n.3407-29T>G) c.3251-29T>G (n.3251-29T>G) c.3314-29T>G (n.3314-29T>G) c.3323-29T>G (n.3323-29T>G) c.3467-29T>G (n.3467-29T>G) c.*3176-29T>G (n.*3176-29T>G) n.2780T>G c.3449-29T>G (n.3449-29T>G) c.3566-29T>G (n.3566-29T>G) c.3488-29T>G (n.3488-29T>G) c.3446-29T>G (n.3446-29T>G) c.3431-29T>G (n.3431-29T>G) c.3401-29T>G (n.3401-29T>G) c.3509-29T>G (n.3509-29T>G) c.3701-29T>G (n.3701-29T>G) c.3647-29T>G (n.3647-29T>G) c.3638-29T>G (n.3638-29T>G) c.3056-29T>G (n.3056-29T>G) c.3500-29T>G (n.3500-29T>G) n.22A>C | dbSNP gnomAD v4 |
| 9 | g.135791768T= | CA1883892454 | KCNT1 | c.3503-29T= (n.3503-29T=) c.3407-29T= (n.3407-29T=) c.3251-29T= (n.3251-29T=) c.3314-29T= (n.3314-29T=) c.3323-29T= (n.3323-29T=) c.3467-29T= (n.3467-29T=) c.*3176-29T= (n.*3176-29T=) n.2780T= c.3449-29T= (n.3449-29T=) c.3566-29T= (n.3566-29T=) c.3488-29T= (n.3488-29T=) c.3446-29T= (n.3446-29T=) c.3431-29T= (n.3431-29T=) c.3401-29T= (n.3401-29T=) c.3509-29T= (n.3509-29T=) c.3701-29T= (n.3701-29T=) c.3647-29T= (n.3647-29T=) c.3638-29T= (n.3638-29T=) c.3056-29T= (n.3056-29T=) c.3500-29T= (n.3500-29T=) n.22A= | |
| 9 | g.135791768dup | CA918576164 | KCNT1 | c.3503-29dup (n.3503-29dup) c.3407-29dup (n.3407-29dup) c.3251-29dup (n.3251-29dup) c.3314-29dup (n.3314-29dup) c.3323-29dup (n.3323-29dup) c.3467-29dup (n.3467-29dup) c.*3176-29dup (n.*3176-29dup) n.2780dup c.3449-29dup (n.3449-29dup) c.3566-29dup (n.3566-29dup) c.3488-29dup (n.3488-29dup) c.3446-29dup (n.3446-29dup) c.3431-29dup (n.3431-29dup) c.3401-29dup (n.3401-29dup) c.3509-29dup (n.3509-29dup) c.3701-29dup (n.3701-29dup) c.3647-29dup (n.3647-29dup) c.3638-29dup (n.3638-29dup) c.3056-29dup (n.3056-29dup) c.3500-29dup (n.3500-29dup) n.22dup | dbSNP |
| 9 | g.135791769G>A | CA5327924 | KCNT1 | c.3503-28G>A (n.3503-28G>A) c.3407-28G>A (n.3407-28G>A) c.3251-28G>A (n.3251-28G>A) c.3314-28G>A (n.3314-28G>A) c.3323-28G>A (n.3323-28G>A) c.3467-28G>A (n.3467-28G>A) c.*3176-28G>A (n.*3176-28G>A) n.2781G>A c.3449-28G>A (n.3449-28G>A) c.3566-28G>A (n.3566-28G>A) c.3488-28G>A (n.3488-28G>A) c.3446-28G>A (n.3446-28G>A) c.3431-28G>A (n.3431-28G>A) c.3401-28G>A (n.3401-28G>A) c.3509-28G>A (n.3509-28G>A) c.3701-28G>A (n.3701-28G>A) c.3647-28G>A (n.3647-28G>A) c.3638-28G>A (n.3638-28G>A) c.3056-28G>A (n.3056-28G>A) c.3500-28G>A (n.3500-28G>A) n.21C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135791769G= | CA1883892456 | KCNT1 | c.3503-28G= (n.3503-28G=) c.3407-28G= (n.3407-28G=) c.3251-28G= (n.3251-28G=) c.3314-28G= (n.3314-28G=) c.3323-28G= (n.3323-28G=) c.3467-28G= (n.3467-28G=) c.*3176-28G= (n.*3176-28G=) n.2781G= c.3449-28G= (n.3449-28G=) c.3566-28G= (n.3566-28G=) c.3488-28G= (n.3488-28G=) c.3446-28G= (n.3446-28G=) c.3431-28G= (n.3431-28G=) c.3401-28G= (n.3401-28G=) c.3509-28G= (n.3509-28G=) c.3701-28G= (n.3701-28G=) c.3647-28G= (n.3647-28G=) c.3638-28G= (n.3638-28G=) c.3056-28G= (n.3056-28G=) c.3500-28G= (n.3500-28G=) n.21C= | |
| 9 | g.135791771C>A | CA2692524753 | KCNT1 | c.3503-26C>A (n.3503-26C>A) c.3407-26C>A (n.3407-26C>A) c.3251-26C>A (n.3251-26C>A) c.3314-26C>A (n.3314-26C>A) c.3323-26C>A (n.3323-26C>A) c.3467-26C>A (n.3467-26C>A) c.*3176-26C>A (n.*3176-26C>A) n.2783C>A c.3449-26C>A (n.3449-26C>A) c.3566-26C>A (n.3566-26C>A) c.3488-26C>A (n.3488-26C>A) c.3446-26C>A (n.3446-26C>A) c.3431-26C>A (n.3431-26C>A) c.3401-26C>A (n.3401-26C>A) c.3509-26C>A (n.3509-26C>A) c.3701-26C>A (n.3701-26C>A) c.3647-26C>A (n.3647-26C>A) c.3638-26C>A (n.3638-26C>A) c.3056-26C>A (n.3056-26C>A) c.3500-26C>A (n.3500-26C>A) n.19G>T | gnomAD v4 |
| 9 | g.135791771C= | CA1883892457 | KCNT1 | c.3503-26C= (n.3503-26C=) c.3407-26C= (n.3407-26C=) c.3251-26C= (n.3251-26C=) c.3314-26C= (n.3314-26C=) c.3323-26C= (n.3323-26C=) c.3467-26C= (n.3467-26C=) c.*3176-26C= (n.*3176-26C=) n.2783C= c.3449-26C= (n.3449-26C=) c.3566-26C= (n.3566-26C=) c.3488-26C= (n.3488-26C=) c.3446-26C= (n.3446-26C=) c.3431-26C= (n.3431-26C=) c.3401-26C= (n.3401-26C=) c.3509-26C= (n.3509-26C=) c.3701-26C= (n.3701-26C=) c.3647-26C= (n.3647-26C=) c.3638-26C= (n.3638-26C=) c.3056-26C= (n.3056-26C=) c.3500-26C= (n.3500-26C=) n.19G= | |
| 9 | g.135791771C>T | CA5327925 | KCNT1 | c.3503-26C>T (n.3503-26C>T) c.3407-26C>T (n.3407-26C>T) c.3251-26C>T (n.3251-26C>T) c.3314-26C>T (n.3314-26C>T) c.3323-26C>T (n.3323-26C>T) c.3467-26C>T (n.3467-26C>T) c.*3176-26C>T (n.*3176-26C>T) n.2783C>T c.3449-26C>T (n.3449-26C>T) c.3566-26C>T (n.3566-26C>T) c.3488-26C>T (n.3488-26C>T) c.3446-26C>T (n.3446-26C>T) c.3431-26C>T (n.3431-26C>T) c.3401-26C>T (n.3401-26C>T) c.3509-26C>T (n.3509-26C>T) c.3701-26C>T (n.3701-26C>T) c.3647-26C>T (n.3647-26C>T) c.3638-26C>T (n.3638-26C>T) c.3056-26C>T (n.3056-26C>T) c.3500-26C>T (n.3500-26C>T) n.19G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791772G>A | CA5327926 | KCNT1 | c.3503-25G>A (n.3503-25G>A) c.3407-25G>A (n.3407-25G>A) c.3251-25G>A (n.3251-25G>A) c.3314-25G>A (n.3314-25G>A) c.3323-25G>A (n.3323-25G>A) c.3467-25G>A (n.3467-25G>A) c.*3176-25G>A (n.*3176-25G>A) n.2784G>A c.3449-25G>A (n.3449-25G>A) c.3566-25G>A (n.3566-25G>A) c.3488-25G>A (n.3488-25G>A) c.3446-25G>A (n.3446-25G>A) c.3431-25G>A (n.3431-25G>A) c.3401-25G>A (n.3401-25G>A) c.3509-25G>A (n.3509-25G>A) c.3701-25G>A (n.3701-25G>A) c.3647-25G>A (n.3647-25G>A) c.3638-25G>A (n.3638-25G>A) c.3056-25G>A (n.3056-25G>A) c.3500-25G>A (n.3500-25G>A) n.18C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791772G= | CA1883892458 | KCNT1 | c.3503-25G= (n.3503-25G=) c.3407-25G= (n.3407-25G=) c.3251-25G= (n.3251-25G=) c.3314-25G= (n.3314-25G=) c.3323-25G= (n.3323-25G=) c.3467-25G= (n.3467-25G=) c.*3176-25G= (n.*3176-25G=) n.2784G= c.3449-25G= (n.3449-25G=) c.3566-25G= (n.3566-25G=) c.3488-25G= (n.3488-25G=) c.3446-25G= (n.3446-25G=) c.3431-25G= (n.3431-25G=) c.3401-25G= (n.3401-25G=) c.3509-25G= (n.3509-25G=) c.3701-25G= (n.3701-25G=) c.3647-25G= (n.3647-25G=) c.3638-25G= (n.3638-25G=) c.3056-25G= (n.3056-25G=) c.3500-25G= (n.3500-25G=) n.18C= | |
| 9 | g.135791773dup | CA2692524760 | KCNT1 | c.3503-24dup (n.3503-24dup) c.3407-24dup (n.3407-24dup) c.3251-24dup (n.3251-24dup) c.3314-24dup (n.3314-24dup) c.3323-24dup (n.3323-24dup) c.3467-24dup (n.3467-24dup) c.*3176-24dup (n.*3176-24dup) n.2785dup c.3449-24dup (n.3449-24dup) c.3566-24dup (n.3566-24dup) c.3488-24dup (n.3488-24dup) c.3446-24dup (n.3446-24dup) c.3431-24dup (n.3431-24dup) c.3401-24dup (n.3401-24dup) c.3509-24dup (n.3509-24dup) c.3701-24dup (n.3701-24dup) c.3647-24dup (n.3647-24dup) c.3638-24dup (n.3638-24dup) c.3056-24dup (n.3056-24dup) c.3500-24dup (n.3500-24dup) n.17dup | gnomAD v4 |
| 9 | g.135791773_135791781delinsTCTGCCCGG | CA1883892459 | KCNT1 | c.3503-24_3503-16delinsTCTGCCCGG (n.3503-24_3503-16delinsTCTGCCCGG) c.3407-24_3407-16delinsTCTGCCCGG (n.3407-24_3407-16delinsTCTGCCCGG) c.3251-24_3251-16delinsTCTGCCCGG (n.3251-24_3251-16delinsTCTGCCCGG) c.3314-24_3314-16delinsTCTGCCCGG (n.3314-24_3314-16delinsTCTGCCCGG) c.3323-24_3323-16delinsTCTGCCCGG (n.3323-24_3323-16delinsTCTGCCCGG) c.3467-24_3467-16delinsTCTGCCCGG (n.3467-24_3467-16delinsTCTGCCCGG) c.*3176-24_*3176-16delinsTCTGCCCGG (n.*3176-24_*3176-16delinsTCTGCCCGG) n.2785_2793delinsTCTGCCCGG c.3449-24_3449-16delinsTCTGCCCGG (n.3449-24_3449-16delinsTCTGCCCGG) c.3566-24_3566-16delinsTCTGCCCGG (n.3566-24_3566-16delinsTCTGCCCGG) c.3488-24_3488-16delinsTCTGCCCGG (n.3488-24_3488-16delinsTCTGCCCGG) c.3446-24_3446-16delinsTCTGCCCGG (n.3446-24_3446-16delinsTCTGCCCGG) c.3431-24_3431-16delinsTCTGCCCGG (n.3431-24_3431-16delinsTCTGCCCGG) c.3401-24_3401-16delinsTCTGCCCGG (n.3401-24_3401-16delinsTCTGCCCGG) c.3509-24_3509-16delinsTCTGCCCGG (n.3509-24_3509-16delinsTCTGCCCGG) c.3701-24_3701-16delinsTCTGCCCGG (n.3701-24_3701-16delinsTCTGCCCGG) c.3647-24_3647-16delinsTCTGCCCGG (n.3647-24_3647-16delinsTCTGCCCGG) c.3638-24_3638-16delinsTCTGCCCGG (n.3638-24_3638-16delinsTCTGCCCGG) c.3056-24_3056-16delinsTCTGCCCGG (n.3056-24_3056-16delinsTCTGCCCGG) c.3500-24_3500-16delinsTCTGCCCGG (n.3500-24_3500-16delinsTCTGCCCGG) n.9_17delinsCCGGGCAGA | |
| 9 | g.135791774C>A | CA2692524764 | KCNT1 | c.3503-23C>A (n.3503-23C>A) c.3407-23C>A (n.3407-23C>A) c.3251-23C>A (n.3251-23C>A) c.3314-23C>A (n.3314-23C>A) c.3323-23C>A (n.3323-23C>A) c.3467-23C>A (n.3467-23C>A) c.*3176-23C>A (n.*3176-23C>A) n.2786C>A c.3449-23C>A (n.3449-23C>A) c.3566-23C>A (n.3566-23C>A) c.3488-23C>A (n.3488-23C>A) c.3446-23C>A (n.3446-23C>A) c.3431-23C>A (n.3431-23C>A) c.3401-23C>A (n.3401-23C>A) c.3509-23C>A (n.3509-23C>A) c.3701-23C>A (n.3701-23C>A) c.3647-23C>A (n.3647-23C>A) c.3638-23C>A (n.3638-23C>A) c.3056-23C>A (n.3056-23C>A) c.3500-23C>A (n.3500-23C>A) n.16G>T | gnomAD v4 |
| 9 | g.135791774C= | CA1883892460 | KCNT1 | c.3503-23C= (n.3503-23C=) c.3407-23C= (n.3407-23C=) c.3251-23C= (n.3251-23C=) c.3314-23C= (n.3314-23C=) c.3323-23C= (n.3323-23C=) c.3467-23C= (n.3467-23C=) c.*3176-23C= (n.*3176-23C=) n.2786C= c.3449-23C= (n.3449-23C=) c.3566-23C= (n.3566-23C=) c.3488-23C= (n.3488-23C=) c.3446-23C= (n.3446-23C=) c.3431-23C= (n.3431-23C=) c.3401-23C= (n.3401-23C=) c.3509-23C= (n.3509-23C=) c.3701-23C= (n.3701-23C=) c.3647-23C= (n.3647-23C=) c.3638-23C= (n.3638-23C=) c.3056-23C= (n.3056-23C=) c.3500-23C= (n.3500-23C=) n.16G= | |
| 9 | g.135791774C>G | CA1129959362 | KCNT1 | c.3503-23C>G (n.3503-23C>G) c.3407-23C>G (n.3407-23C>G) c.3251-23C>G (n.3251-23C>G) c.3314-23C>G (n.3314-23C>G) c.3323-23C>G (n.3323-23C>G) c.3467-23C>G (n.3467-23C>G) c.*3176-23C>G (n.*3176-23C>G) n.2786C>G c.3449-23C>G (n.3449-23C>G) c.3566-23C>G (n.3566-23C>G) c.3488-23C>G (n.3488-23C>G) c.3446-23C>G (n.3446-23C>G) c.3431-23C>G (n.3431-23C>G) c.3401-23C>G (n.3401-23C>G) c.3509-23C>G (n.3509-23C>G) c.3701-23C>G (n.3701-23C>G) c.3647-23C>G (n.3647-23C>G) c.3638-23C>G (n.3638-23C>G) c.3056-23C>G (n.3056-23C>G) c.3500-23C>G (n.3500-23C>G) n.16G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791777_135791784del | CA591365065 | KCNT1 | c.3503-20_3503-13del (n.3503-20_3503-13del) c.3407-20_3407-13del (n.3407-20_3407-13del) c.3251-20_3251-13del (n.3251-20_3251-13del) c.3314-20_3314-13del (n.3314-20_3314-13del) c.3323-20_3323-13del (n.3323-20_3323-13del) c.3467-20_3467-13del (n.3467-20_3467-13del) c.*3176-20_*3176-13del (n.*3176-20_*3176-13del) n.2789_2796del c.3449-20_3449-13del (n.3449-20_3449-13del) c.3566-20_3566-13del (n.3566-20_3566-13del) c.3488-20_3488-13del (n.3488-20_3488-13del) c.3446-20_3446-13del (n.3446-20_3446-13del) c.3431-20_3431-13del (n.3431-20_3431-13del) c.3401-20_3401-13del (n.3401-20_3401-13del) c.3509-20_3509-13del (n.3509-20_3509-13del) c.3701-20_3701-13del (n.3701-20_3701-13del) c.3647-20_3647-13del (n.3647-20_3647-13del) c.3638-20_3638-13del (n.3638-20_3638-13del) c.3056-20_3056-13del (n.3056-20_3056-13del) c.3500-20_3500-13del (n.3500-20_3500-13del) n.9_16del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791775T>C | CA860977092 | KCNT1 | c.3503-22T>C (n.3503-22T>C) c.3407-22T>C (n.3407-22T>C) c.3251-22T>C (n.3251-22T>C) c.3314-22T>C (n.3314-22T>C) c.3323-22T>C (n.3323-22T>C) c.3467-22T>C (n.3467-22T>C) c.*3176-22T>C (n.*3176-22T>C) n.2787T>C c.3449-22T>C (n.3449-22T>C) c.3566-22T>C (n.3566-22T>C) c.3488-22T>C (n.3488-22T>C) c.3446-22T>C (n.3446-22T>C) c.3431-22T>C (n.3431-22T>C) c.3401-22T>C (n.3401-22T>C) c.3509-22T>C (n.3509-22T>C) c.3701-22T>C (n.3701-22T>C) c.3647-22T>C (n.3647-22T>C) c.3638-22T>C (n.3638-22T>C) c.3056-22T>C (n.3056-22T>C) c.3500-22T>C (n.3500-22T>C) n.15A>G | dbSNP gnomAD v4 |
| 9 | g.135791775T= | CA1883892461 | KCNT1 | c.3503-22T= (n.3503-22T=) c.3407-22T= (n.3407-22T=) c.3251-22T= (n.3251-22T=) c.3314-22T= (n.3314-22T=) c.3323-22T= (n.3323-22T=) c.3467-22T= (n.3467-22T=) c.*3176-22T= (n.*3176-22T=) n.2787T= c.3449-22T= (n.3449-22T=) c.3566-22T= (n.3566-22T=) c.3488-22T= (n.3488-22T=) c.3446-22T= (n.3446-22T=) c.3431-22T= (n.3431-22T=) c.3401-22T= (n.3401-22T=) c.3509-22T= (n.3509-22T=) c.3701-22T= (n.3701-22T=) c.3647-22T= (n.3647-22T=) c.3638-22T= (n.3638-22T=) c.3056-22T= (n.3056-22T=) c.3500-22T= (n.3500-22T=) n.15A= | |
| 9 | g.135791776G>A | CA1129959365 | KCNT1 | c.3503-21G>A (n.3503-21G>A) c.3407-21G>A (n.3407-21G>A) c.3251-21G>A (n.3251-21G>A) c.3314-21G>A (n.3314-21G>A) c.3323-21G>A (n.3323-21G>A) c.3467-21G>A (n.3467-21G>A) c.*3176-21G>A (n.*3176-21G>A) n.2788G>A c.3449-21G>A (n.3449-21G>A) c.3566-21G>A (n.3566-21G>A) c.3488-21G>A (n.3488-21G>A) c.3446-21G>A (n.3446-21G>A) c.3431-21G>A (n.3431-21G>A) c.3401-21G>A (n.3401-21G>A) c.3509-21G>A (n.3509-21G>A) c.3701-21G>A (n.3701-21G>A) c.3647-21G>A (n.3647-21G>A) c.3638-21G>A (n.3638-21G>A) c.3056-21G>A (n.3056-21G>A) c.3500-21G>A (n.3500-21G>A) n.14C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791776G= | CA1883892462 | KCNT1 | c.3503-21G= (n.3503-21G=) c.3407-21G= (n.3407-21G=) c.3251-21G= (n.3251-21G=) c.3314-21G= (n.3314-21G=) c.3323-21G= (n.3323-21G=) c.3467-21G= (n.3467-21G=) c.*3176-21G= (n.*3176-21G=) n.2788G= c.3449-21G= (n.3449-21G=) c.3566-21G= (n.3566-21G=) c.3488-21G= (n.3488-21G=) c.3446-21G= (n.3446-21G=) c.3431-21G= (n.3431-21G=) c.3401-21G= (n.3401-21G=) c.3509-21G= (n.3509-21G=) c.3701-21G= (n.3701-21G=) c.3647-21G= (n.3647-21G=) c.3638-21G= (n.3638-21G=) c.3056-21G= (n.3056-21G=) c.3500-21G= (n.3500-21G=) n.14C= | |
| 9 | g.135791777C>A | CA591365066 | KCNT1 | c.3503-20C>A (n.3503-20C>A) c.3407-20C>A (n.3407-20C>A) c.3251-20C>A (n.3251-20C>A) c.3314-20C>A (n.3314-20C>A) c.3323-20C>A (n.3323-20C>A) c.3467-20C>A (n.3467-20C>A) c.*3176-20C>A (n.*3176-20C>A) n.2789C>A c.3449-20C>A (n.3449-20C>A) c.3566-20C>A (n.3566-20C>A) c.3488-20C>A (n.3488-20C>A) c.3446-20C>A (n.3446-20C>A) c.3431-20C>A (n.3431-20C>A) c.3401-20C>A (n.3401-20C>A) c.3509-20C>A (n.3509-20C>A) c.3701-20C>A (n.3701-20C>A) c.3647-20C>A (n.3647-20C>A) c.3638-20C>A (n.3638-20C>A) c.3056-20C>A (n.3056-20C>A) c.3500-20C>A (n.3500-20C>A) n.13G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791777C= | CA1883892463 | KCNT1 | c.3503-20C= (n.3503-20C=) c.3407-20C= (n.3407-20C=) c.3251-20C= (n.3251-20C=) c.3314-20C= (n.3314-20C=) c.3323-20C= (n.3323-20C=) c.3467-20C= (n.3467-20C=) c.*3176-20C= (n.*3176-20C=) n.2789C= c.3449-20C= (n.3449-20C=) c.3566-20C= (n.3566-20C=) c.3488-20C= (n.3488-20C=) c.3446-20C= (n.3446-20C=) c.3431-20C= (n.3431-20C=) c.3401-20C= (n.3401-20C=) c.3509-20C= (n.3509-20C=) c.3701-20C= (n.3701-20C=) c.3647-20C= (n.3647-20C=) c.3638-20C= (n.3638-20C=) c.3056-20C= (n.3056-20C=) c.3500-20C= (n.3500-20C=) n.13G= | |
| 9 | g.135791779del | CA2720683342 | KCNT1 | c.3503-18del (n.3503-18del) c.3407-18del (n.3407-18del) c.3251-18del (n.3251-18del) c.3314-18del (n.3314-18del) c.3323-18del (n.3323-18del) c.3467-18del (n.3467-18del) c.*3176-18del (n.*3176-18del) n.2791del c.3449-18del (n.3449-18del) c.3566-18del (n.3566-18del) c.3488-18del (n.3488-18del) c.3446-18del (n.3446-18del) c.3431-18del (n.3431-18del) c.3401-18del (n.3401-18del) c.3509-18del (n.3509-18del) c.3701-18del (n.3701-18del) c.3647-18del (n.3647-18del) c.3638-18del (n.3638-18del) c.3056-18del (n.3056-18del) c.3500-18del (n.3500-18del) n.13del | dbSNP |
| 9 | g.135791778C= | CA1883892464 | KCNT1 | c.3503-19C= (n.3503-19C=) c.3407-19C= (n.3407-19C=) c.3251-19C= (n.3251-19C=) c.3314-19C= (n.3314-19C=) c.3323-19C= (n.3323-19C=) c.3467-19C= (n.3467-19C=) c.*3176-19C= (n.*3176-19C=) n.2790C= c.3449-19C= (n.3449-19C=) c.3566-19C= (n.3566-19C=) c.3488-19C= (n.3488-19C=) c.3446-19C= (n.3446-19C=) c.3431-19C= (n.3431-19C=) c.3401-19C= (n.3401-19C=) c.3509-19C= (n.3509-19C=) c.3701-19C= (n.3701-19C=) c.3647-19C= (n.3647-19C=) c.3638-19C= (n.3638-19C=) c.3056-19C= (n.3056-19C=) c.3500-19C= (n.3500-19C=) n.12G= | |
| 9 | g.135791778C>T | CA201431301 | KCNT1 | c.3503-19C>T (n.3503-19C>T) c.3407-19C>T (n.3407-19C>T) c.3251-19C>T (n.3251-19C>T) c.3314-19C>T (n.3314-19C>T) c.3323-19C>T (n.3323-19C>T) c.3467-19C>T (n.3467-19C>T) c.*3176-19C>T (n.*3176-19C>T) n.2790C>T c.3449-19C>T (n.3449-19C>T) c.3566-19C>T (n.3566-19C>T) c.3488-19C>T (n.3488-19C>T) c.3446-19C>T (n.3446-19C>T) c.3431-19C>T (n.3431-19C>T) c.3401-19C>T (n.3401-19C>T) c.3509-19C>T (n.3509-19C>T) c.3701-19C>T (n.3701-19C>T) c.3647-19C>T (n.3647-19C>T) c.3638-19C>T (n.3638-19C>T) c.3056-19C>T (n.3056-19C>T) c.3500-19C>T (n.3500-19C>T) n.12G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791779_135791782dup | CA2692524773 | KCNT1 | c.3503-18_3503-15dup (n.3503-18_3503-15dup) c.3407-18_3407-15dup (n.3407-18_3407-15dup) c.3251-18_3251-15dup (n.3251-18_3251-15dup) c.3314-18_3314-15dup (n.3314-18_3314-15dup) c.3323-18_3323-15dup (n.3323-18_3323-15dup) c.3467-18_3467-15dup (n.3467-18_3467-15dup) c.*3176-18_*3176-15dup (n.*3176-18_*3176-15dup) n.2791_2794dup c.3449-18_3449-15dup (n.3449-18_3449-15dup) c.3566-18_3566-15dup (n.3566-18_3566-15dup) c.3488-18_3488-15dup (n.3488-18_3488-15dup) c.3446-18_3446-15dup (n.3446-18_3446-15dup) c.3431-18_3431-15dup (n.3431-18_3431-15dup) c.3401-18_3401-15dup (n.3401-18_3401-15dup) c.3509-18_3509-15dup (n.3509-18_3509-15dup) c.3701-18_3701-15dup (n.3701-18_3701-15dup) c.3647-18_3647-15dup (n.3647-18_3647-15dup) c.3638-18_3638-15dup (n.3638-18_3638-15dup) c.3056-18_3056-15dup (n.3056-18_3056-15dup) c.3500-18_3500-15dup (n.3500-18_3500-15dup) n.9_12dup | gnomAD v4 |
| 9 | g.135791779C= | CA1883892465 | KCNT1 | c.3503-18C= (n.3503-18C=) c.3407-18C= (n.3407-18C=) c.3251-18C= (n.3251-18C=) c.3314-18C= (n.3314-18C=) c.3323-18C= (n.3323-18C=) c.3467-18C= (n.3467-18C=) c.*3176-18C= (n.*3176-18C=) n.2791C= c.3449-18C= (n.3449-18C=) c.3566-18C= (n.3566-18C=) c.3488-18C= (n.3488-18C=) c.3446-18C= (n.3446-18C=) c.3431-18C= (n.3431-18C=) c.3401-18C= (n.3401-18C=) c.3509-18C= (n.3509-18C=) c.3701-18C= (n.3701-18C=) c.3647-18C= (n.3647-18C=) c.3638-18C= (n.3638-18C=) c.3056-18C= (n.3056-18C=) c.3500-18C= (n.3500-18C=) n.11G= | |
| 9 | g.135791779C>G | CA201431302 | KCNT1 | c.3503-18C>G (n.3503-18C>G) c.3407-18C>G (n.3407-18C>G) c.3251-18C>G (n.3251-18C>G) c.3314-18C>G (n.3314-18C>G) c.3323-18C>G (n.3323-18C>G) c.3467-18C>G (n.3467-18C>G) c.*3176-18C>G (n.*3176-18C>G) n.2791C>G c.3449-18C>G (n.3449-18C>G) c.3566-18C>G (n.3566-18C>G) c.3488-18C>G (n.3488-18C>G) c.3446-18C>G (n.3446-18C>G) c.3431-18C>G (n.3431-18C>G) c.3401-18C>G (n.3401-18C>G) c.3509-18C>G (n.3509-18C>G) c.3701-18C>G (n.3701-18C>G) c.3647-18C>G (n.3647-18C>G) c.3638-18C>G (n.3638-18C>G) c.3056-18C>G (n.3056-18C>G) c.3500-18C>G (n.3500-18C>G) n.11G>C | dbSNP |
| 9 | g.135791779C>T | CA5327927 | KCNT1 | c.3503-18C>T (n.3503-18C>T) c.3407-18C>T (n.3407-18C>T) c.3251-18C>T (n.3251-18C>T) c.3314-18C>T (n.3314-18C>T) c.3323-18C>T (n.3323-18C>T) c.3467-18C>T (n.3467-18C>T) c.*3176-18C>T (n.*3176-18C>T) n.2791C>T c.3449-18C>T (n.3449-18C>T) c.3566-18C>T (n.3566-18C>T) c.3488-18C>T (n.3488-18C>T) c.3446-18C>T (n.3446-18C>T) c.3431-18C>T (n.3431-18C>T) c.3401-18C>T (n.3401-18C>T) c.3509-18C>T (n.3509-18C>T) c.3701-18C>T (n.3701-18C>T) c.3647-18C>T (n.3647-18C>T) c.3638-18C>T (n.3638-18C>T) c.3056-18C>T (n.3056-18C>T) c.3500-18C>T (n.3500-18C>T) n.11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791780G>A | CA5327928 | KCNT1 | c.3503-17G>A (n.3503-17G>A) c.3407-17G>A (n.3407-17G>A) c.3251-17G>A (n.3251-17G>A) c.3314-17G>A (n.3314-17G>A) c.3323-17G>A (n.3323-17G>A) c.3467-17G>A (n.3467-17G>A) c.*3176-17G>A (n.*3176-17G>A) n.2792G>A c.3449-17G>A (n.3449-17G>A) c.3566-17G>A (n.3566-17G>A) c.3488-17G>A (n.3488-17G>A) c.3446-17G>A (n.3446-17G>A) c.3431-17G>A (n.3431-17G>A) c.3401-17G>A (n.3401-17G>A) c.3509-17G>A (n.3509-17G>A) c.3701-17G>A (n.3701-17G>A) c.3647-17G>A (n.3647-17G>A) c.3638-17G>A (n.3638-17G>A) c.3056-17G>A (n.3056-17G>A) c.3500-17G>A (n.3500-17G>A) n.10C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791780G>C | CA201431305 | KCNT1 | c.3503-17G>C (n.3503-17G>C) c.3407-17G>C (n.3407-17G>C) c.3251-17G>C (n.3251-17G>C) c.3314-17G>C (n.3314-17G>C) c.3323-17G>C (n.3323-17G>C) c.3467-17G>C (n.3467-17G>C) c.*3176-17G>C (n.*3176-17G>C) n.2792G>C c.3449-17G>C (n.3449-17G>C) c.3566-17G>C (n.3566-17G>C) c.3488-17G>C (n.3488-17G>C) c.3446-17G>C (n.3446-17G>C) c.3431-17G>C (n.3431-17G>C) c.3401-17G>C (n.3401-17G>C) c.3509-17G>C (n.3509-17G>C) c.3701-17G>C (n.3701-17G>C) c.3647-17G>C (n.3647-17G>C) c.3638-17G>C (n.3638-17G>C) c.3056-17G>C (n.3056-17G>C) c.3500-17G>C (n.3500-17G>C) n.10C>G | dbSNP |
| 9 | g.135791780G= | CA1883892466 | KCNT1 | c.3503-17G= (n.3503-17G=) c.3407-17G= (n.3407-17G=) c.3251-17G= (n.3251-17G=) c.3314-17G= (n.3314-17G=) c.3323-17G= (n.3323-17G=) c.3467-17G= (n.3467-17G=) c.*3176-17G= (n.*3176-17G=) n.2792G= c.3449-17G= (n.3449-17G=) c.3566-17G= (n.3566-17G=) c.3488-17G= (n.3488-17G=) c.3446-17G= (n.3446-17G=) c.3431-17G= (n.3431-17G=) c.3401-17G= (n.3401-17G=) c.3509-17G= (n.3509-17G=) c.3701-17G= (n.3701-17G=) c.3647-17G= (n.3647-17G=) c.3638-17G= (n.3638-17G=) c.3056-17G= (n.3056-17G=) c.3500-17G= (n.3500-17G=) n.10C= | |
| 9 | g.135791781G>C | CA591365067 | KCNT1 | c.3503-16G>C (n.3503-16G>C) c.3407-16G>C (n.3407-16G>C) c.3251-16G>C (n.3251-16G>C) c.3314-16G>C (n.3314-16G>C) c.3323-16G>C (n.3323-16G>C) c.3467-16G>C (n.3467-16G>C) c.*3176-16G>C (n.*3176-16G>C) n.2793G>C c.3449-16G>C (n.3449-16G>C) c.3566-16G>C (n.3566-16G>C) c.3488-16G>C (n.3488-16G>C) c.3446-16G>C (n.3446-16G>C) c.3431-16G>C (n.3431-16G>C) c.3401-16G>C (n.3401-16G>C) c.3509-16G>C (n.3509-16G>C) c.3701-16G>C (n.3701-16G>C) c.3647-16G>C (n.3647-16G>C) c.3638-16G>C (n.3638-16G>C) c.3056-16G>C (n.3056-16G>C) c.3500-16G>C (n.3500-16G>C) n.9C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791781G= | CA1883892467 | KCNT1 | c.3503-16G= (n.3503-16G=) c.3407-16G= (n.3407-16G=) c.3251-16G= (n.3251-16G=) c.3314-16G= (n.3314-16G=) c.3323-16G= (n.3323-16G=) c.3467-16G= (n.3467-16G=) c.*3176-16G= (n.*3176-16G=) n.2793G= c.3449-16G= (n.3449-16G=) c.3566-16G= (n.3566-16G=) c.3488-16G= (n.3488-16G=) c.3446-16G= (n.3446-16G=) c.3431-16G= (n.3431-16G=) c.3401-16G= (n.3401-16G=) c.3509-16G= (n.3509-16G=) c.3701-16G= (n.3701-16G=) c.3647-16G= (n.3647-16G=) c.3638-16G= (n.3638-16G=) c.3056-16G= (n.3056-16G=) c.3500-16G= (n.3500-16G=) n.9C= | |
| 9 | g.135791782C= | CA1883892468 | KCNT1 | c.3503-15C= (n.3503-15C=) c.3407-15C= (n.3407-15C=) c.3251-15C= (n.3251-15C=) c.3314-15C= (n.3314-15C=) c.3323-15C= (n.3323-15C=) c.3467-15C= (n.3467-15C=) c.*3176-15C= (n.*3176-15C=) n.2794C= c.3449-15C= (n.3449-15C=) c.3566-15C= (n.3566-15C=) c.3488-15C= (n.3488-15C=) c.3446-15C= (n.3446-15C=) c.3431-15C= (n.3431-15C=) c.3401-15C= (n.3401-15C=) c.3509-15C= (n.3509-15C=) c.3701-15C= (n.3701-15C=) c.3647-15C= (n.3647-15C=) c.3638-15C= (n.3638-15C=) c.3056-15C= (n.3056-15C=) c.3500-15C= (n.3500-15C=) n.8G= | |
| 9 | g.135791782C>T | CA5327929 | KCNT1 | c.3503-15C>T (n.3503-15C>T) c.3407-15C>T (n.3407-15C>T) c.3251-15C>T (n.3251-15C>T) c.3314-15C>T (n.3314-15C>T) c.3323-15C>T (n.3323-15C>T) c.3467-15C>T (n.3467-15C>T) c.*3176-15C>T (n.*3176-15C>T) n.2794C>T c.3449-15C>T (n.3449-15C>T) c.3566-15C>T (n.3566-15C>T) c.3488-15C>T (n.3488-15C>T) c.3446-15C>T (n.3446-15C>T) c.3431-15C>T (n.3431-15C>T) c.3401-15C>T (n.3401-15C>T) c.3509-15C>T (n.3509-15C>T) c.3701-15C>T (n.3701-15C>T) c.3647-15C>T (n.3647-15C>T) c.3638-15C>T (n.3638-15C>T) c.3056-15C>T (n.3056-15C>T) c.3500-15C>T (n.3500-15C>T) n.8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791783del | CA2720683402 | KCNT1 | c.3503-14del (n.3503-14del) c.3407-14del (n.3407-14del) c.3251-14del (n.3251-14del) c.3314-14del (n.3314-14del) c.3323-14del (n.3323-14del) c.3467-14del (n.3467-14del) c.*3176-14del (n.*3176-14del) n.2795del c.3449-14del (n.3449-14del) c.3566-14del (n.3566-14del) c.3488-14del (n.3488-14del) c.3446-14del (n.3446-14del) c.3431-14del (n.3431-14del) c.3401-14del (n.3401-14del) c.3509-14del (n.3509-14del) c.3701-14del (n.3701-14del) c.3647-14del (n.3647-14del) c.3638-14del (n.3638-14del) c.3056-14del (n.3056-14del) c.3500-14del (n.3500-14del) n.7del | dbSNP |
| 9 | g.135791783T>C | CA2692524800 | KCNT1 | c.3503-14T>C (n.3503-14T>C) c.3407-14T>C (n.3407-14T>C) c.3251-14T>C (n.3251-14T>C) c.3314-14T>C (n.3314-14T>C) c.3323-14T>C (n.3323-14T>C) c.3467-14T>C (n.3467-14T>C) c.*3176-14T>C (n.*3176-14T>C) n.2795T>C c.3449-14T>C (n.3449-14T>C) c.3566-14T>C (n.3566-14T>C) c.3488-14T>C (n.3488-14T>C) c.3446-14T>C (n.3446-14T>C) c.3431-14T>C (n.3431-14T>C) c.3401-14T>C (n.3401-14T>C) c.3509-14T>C (n.3509-14T>C) c.3701-14T>C (n.3701-14T>C) c.3647-14T>C (n.3647-14T>C) c.3638-14T>C (n.3638-14T>C) c.3056-14T>C (n.3056-14T>C) c.3500-14T>C (n.3500-14T>C) n.7A>G | gnomAD v4 |
| 9 | g.135791784G>A | CA2692524803 | KCNT1 | c.3503-13G>A (n.3503-13G>A) c.3407-13G>A (n.3407-13G>A) c.3251-13G>A (n.3251-13G>A) c.3314-13G>A (n.3314-13G>A) c.3323-13G>A (n.3323-13G>A) c.3467-13G>A (n.3467-13G>A) c.*3176-13G>A (n.*3176-13G>A) n.2796G>A c.3449-13G>A (n.3449-13G>A) c.3566-13G>A (n.3566-13G>A) c.3488-13G>A (n.3488-13G>A) c.3446-13G>A (n.3446-13G>A) c.3431-13G>A (n.3431-13G>A) c.3401-13G>A (n.3401-13G>A) c.3509-13G>A (n.3509-13G>A) c.3701-13G>A (n.3701-13G>A) c.3647-13G>A (n.3647-13G>A) c.3638-13G>A (n.3638-13G>A) c.3056-13G>A (n.3056-13G>A) c.3500-13G>A (n.3500-13G>A) n.6C>T | gnomAD v4 |
| 9 | g.135791787T>C | CA5327930 | KCNT1 | c.3503-10T>C (n.3503-10T>C) c.3407-10T>C (n.3407-10T>C) c.3251-10T>C (n.3251-10T>C) c.3314-10T>C (n.3314-10T>C) c.3323-10T>C (n.3323-10T>C) c.3467-10T>C (n.3467-10T>C) c.*3176-10T>C (n.*3176-10T>C) n.2799T>C c.3449-10T>C (n.3449-10T>C) c.3566-10T>C (n.3566-10T>C) c.3488-10T>C (n.3488-10T>C) c.3446-10T>C (n.3446-10T>C) c.3431-10T>C (n.3431-10T>C) c.3401-10T>C (n.3401-10T>C) c.3509-10T>C (n.3509-10T>C) c.3701-10T>C (n.3701-10T>C) c.3647-10T>C (n.3647-10T>C) c.3638-10T>C (n.3638-10T>C) c.3056-10T>C (n.3056-10T>C) c.3500-10T>C (n.3500-10T>C) n.3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791787T= | CA1883892469 | KCNT1 | c.3503-10T= (n.3503-10T=) c.3407-10T= (n.3407-10T=) c.3251-10T= (n.3251-10T=) c.3314-10T= (n.3314-10T=) c.3323-10T= (n.3323-10T=) c.3467-10T= (n.3467-10T=) c.*3176-10T= (n.*3176-10T=) n.2799T= c.3449-10T= (n.3449-10T=) c.3566-10T= (n.3566-10T=) c.3488-10T= (n.3488-10T=) c.3446-10T= (n.3446-10T=) c.3431-10T= (n.3431-10T=) c.3401-10T= (n.3401-10T=) c.3509-10T= (n.3509-10T=) c.3701-10T= (n.3701-10T=) c.3647-10T= (n.3647-10T=) c.3638-10T= (n.3638-10T=) c.3056-10T= (n.3056-10T=) c.3500-10T= (n.3500-10T=) n.3A= | |
| 9 | g.135791788C>A | CA5327931 | KCNT1 | c.3503-9C>A (n.3503-9C>A) c.3407-9C>A (n.3407-9C>A) c.3251-9C>A (n.3251-9C>A) c.3314-9C>A (n.3314-9C>A) c.3323-9C>A (n.3323-9C>A) c.3467-9C>A (n.3467-9C>A) c.*3176-9C>A (n.*3176-9C>A) n.2800C>A c.3449-9C>A (n.3449-9C>A) c.3566-9C>A (n.3566-9C>A) c.3488-9C>A (n.3488-9C>A) c.3446-9C>A (n.3446-9C>A) c.3431-9C>A (n.3431-9C>A) c.3401-9C>A (n.3401-9C>A) c.3509-9C>A (n.3509-9C>A) c.3701-9C>A (n.3701-9C>A) c.3647-9C>A (n.3647-9C>A) c.3638-9C>A (n.3638-9C>A) c.3056-9C>A (n.3056-9C>A) c.3500-9C>A (n.3500-9C>A) n.2G>T | dbSNP ExAC gnomAD v2 |
| 9 | g.135791788C= | CA1883892470 | KCNT1 | c.3503-9C= (n.3503-9C=) c.3407-9C= (n.3407-9C=) c.3251-9C= (n.3251-9C=) c.3314-9C= (n.3314-9C=) c.3323-9C= (n.3323-9C=) c.3467-9C= (n.3467-9C=) c.*3176-9C= (n.*3176-9C=) n.2800C= c.3449-9C= (n.3449-9C=) c.3566-9C= (n.3566-9C=) c.3488-9C= (n.3488-9C=) c.3446-9C= (n.3446-9C=) c.3431-9C= (n.3431-9C=) c.3401-9C= (n.3401-9C=) c.3509-9C= (n.3509-9C=) c.3701-9C= (n.3701-9C=) c.3647-9C= (n.3647-9C=) c.3638-9C= (n.3638-9C=) c.3056-9C= (n.3056-9C=) c.3500-9C= (n.3500-9C=) n.2G= | |
| 9 | g.135791788C>T | CA2546235081 | KCNT1 | c.3503-9C>T (n.3503-9C>T) c.3407-9C>T (n.3407-9C>T) c.3251-9C>T (n.3251-9C>T) c.3314-9C>T (n.3314-9C>T) c.3323-9C>T (n.3323-9C>T) c.3467-9C>T (n.3467-9C>T) c.*3176-9C>T (n.*3176-9C>T) n.2800C>T c.3449-9C>T (n.3449-9C>T) c.3566-9C>T (n.3566-9C>T) c.3488-9C>T (n.3488-9C>T) c.3446-9C>T (n.3446-9C>T) c.3431-9C>T (n.3431-9C>T) c.3401-9C>T (n.3401-9C>T) c.3509-9C>T (n.3509-9C>T) c.3701-9C>T (n.3701-9C>T) c.3647-9C>T (n.3647-9C>T) c.3638-9C>T (n.3638-9C>T) c.3056-9C>T (n.3056-9C>T) c.3500-9C>T (n.3500-9C>T) n.2G>A | gnomAD v4 |
| 9 | g.135791789C>T | CA2508345254 | KCNT1 | c.3503-8C>T (n.3503-8C>T) c.3407-8C>T (n.3407-8C>T) c.3251-8C>T (n.3251-8C>T) c.3314-8C>T (n.3314-8C>T) c.3323-8C>T (n.3323-8C>T) c.3467-8C>T (n.3467-8C>T) c.*3176-8C>T (n.*3176-8C>T) n.2801C>T c.3449-8C>T (n.3449-8C>T) c.3566-8C>T (n.3566-8C>T) c.3488-8C>T (n.3488-8C>T) c.3446-8C>T (n.3446-8C>T) c.3431-8C>T (n.3431-8C>T) c.3401-8C>T (n.3401-8C>T) c.3509-8C>T (n.3509-8C>T) c.3701-8C>T (n.3701-8C>T) c.3647-8C>T (n.3647-8C>T) c.3638-8C>T (n.3638-8C>T) c.3056-8C>T (n.3056-8C>T) c.3500-8C>T (n.3500-8C>T) n.1G>A | |
| 9 | g.135791790T>A | CA201431349 | KCNT1 | c.3503-7T>A (n.3503-7T>A) c.3407-7T>A (n.3407-7T>A) c.3251-7T>A (n.3251-7T>A) c.3314-7T>A (n.3314-7T>A) c.3323-7T>A (n.3323-7T>A) c.3467-7T>A (n.3467-7T>A) c.*3176-7T>A (n.*3176-7T>A) n.2802T>A c.3449-7T>A (n.3449-7T>A) c.3566-7T>A (n.3566-7T>A) c.3488-7T>A (n.3488-7T>A) c.3446-7T>A (n.3446-7T>A) c.3431-7T>A (n.3431-7T>A) c.3401-7T>A (n.3401-7T>A) c.3509-7T>A (n.3509-7T>A) c.3701-7T>A (n.3701-7T>A) c.3647-7T>A (n.3647-7T>A) c.3638-7T>A (n.3638-7T>A) c.3056-7T>A (n.3056-7T>A) c.3500-7T>A (n.3500-7T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791790T= | CA1883892471 | KCNT1 | c.3503-7T= (n.3503-7T=) c.3407-7T= (n.3407-7T=) c.3251-7T= (n.3251-7T=) c.3314-7T= (n.3314-7T=) c.3323-7T= (n.3323-7T=) c.3467-7T= (n.3467-7T=) c.*3176-7T= (n.*3176-7T=) n.2802T= c.3449-7T= (n.3449-7T=) c.3566-7T= (n.3566-7T=) c.3488-7T= (n.3488-7T=) c.3446-7T= (n.3446-7T=) c.3431-7T= (n.3431-7T=) c.3401-7T= (n.3401-7T=) c.3509-7T= (n.3509-7T=) c.3701-7T= (n.3701-7T=) c.3647-7T= (n.3647-7T=) c.3638-7T= (n.3638-7T=) c.3056-7T= (n.3056-7T=) c.3500-7T= (n.3500-7T=) | |
| 9 | g.135791793G>A | CA1883892473 | KCNT1 | c.3503-4G>A (n.3503-4G>A) c.3407-4G>A (n.3407-4G>A) c.3251-4G>A (n.3251-4G>A) c.3314-4G>A (n.3314-4G>A) c.3323-4G>A (n.3323-4G>A) c.3467-4G>A (n.3467-4G>A) c.*3176-4G>A (n.*3176-4G>A) n.2805G>A c.3449-4G>A (n.3449-4G>A) c.3566-4G>A (n.3566-4G>A) c.3488-4G>A (n.3488-4G>A) c.3446-4G>A (n.3446-4G>A) c.3431-4G>A (n.3431-4G>A) c.3401-4G>A (n.3401-4G>A) c.3509-4G>A (n.3509-4G>A) c.3701-4G>A (n.3701-4G>A) c.3647-4G>A (n.3647-4G>A) c.3638-4G>A (n.3638-4G>A) c.3056-4G>A (n.3056-4G>A) c.3500-4G>A (n.3500-4G>A) | dbSNP |
| 9 | g.135791793G= | CA1883892472 | KCNT1 | c.3503-4G= (n.3503-4G=) c.3407-4G= (n.3407-4G=) c.3251-4G= (n.3251-4G=) c.3314-4G= (n.3314-4G=) c.3323-4G= (n.3323-4G=) c.3467-4G= (n.3467-4G=) c.*3176-4G= (n.*3176-4G=) n.2805G= c.3449-4G= (n.3449-4G=) c.3566-4G= (n.3566-4G=) c.3488-4G= (n.3488-4G=) c.3446-4G= (n.3446-4G=) c.3431-4G= (n.3431-4G=) c.3401-4G= (n.3401-4G=) c.3509-4G= (n.3509-4G=) c.3701-4G= (n.3701-4G=) c.3647-4G= (n.3647-4G=) c.3638-4G= (n.3638-4G=) c.3056-4G= (n.3056-4G=) c.3500-4G= (n.3500-4G=) | |
| 9 | g.135791794C>T | CA2579511177 | KCNT1 | c.3503-3C>T (n.3503-3C>T) c.3407-3C>T (n.3407-3C>T) c.3251-3C>T (n.3251-3C>T) c.3314-3C>T (n.3314-3C>T) c.3323-3C>T (n.3323-3C>T) c.3467-3C>T (n.3467-3C>T) c.*3176-3C>T (n.*3176-3C>T) n.2806C>T c.3449-3C>T (n.3449-3C>T) c.3566-3C>T (n.3566-3C>T) c.3488-3C>T (n.3488-3C>T) c.3446-3C>T (n.3446-3C>T) c.3431-3C>T (n.3431-3C>T) c.3401-3C>T (n.3401-3C>T) c.3509-3C>T (n.3509-3C>T) c.3701-3C>T (n.3701-3C>T) c.3647-3C>T (n.3647-3C>T) c.3638-3C>T (n.3638-3C>T) c.3056-3C>T (n.3056-3C>T) c.3500-3C>T (n.3500-3C>T) | gnomAD v4 |
| 9 | g.135791795A>C | CA375493677 | KCNT1 | c.3503-2A>C (n.3503-2A>C) c.3407-2A>C (n.3407-2A>C) c.3251-2A>C (n.3251-2A>C) c.3314-2A>C (n.3314-2A>C) c.3323-2A>C (n.3323-2A>C) c.3467-2A>C (n.3467-2A>C) c.*3176-2A>C (n.*3176-2A>C) n.2807A>C c.3449-2A>C (n.3449-2A>C) c.3566-2A>C (n.3566-2A>C) c.3488-2A>C (n.3488-2A>C) c.3446-2A>C (n.3446-2A>C) c.3431-2A>C (n.3431-2A>C) c.3401-2A>C (n.3401-2A>C) c.3509-2A>C (n.3509-2A>C) c.3701-2A>C (n.3701-2A>C) c.3647-2A>C (n.3647-2A>C) c.3638-2A>C (n.3638-2A>C) c.3056-2A>C (n.3056-2A>C) c.3500-2A>C (n.3500-2A>C) | |
| 9 | g.135791795A>G | CA375493673 | KCNT1 | c.3503-2A>G (n.3503-2A>G) c.3407-2A>G (n.3407-2A>G) c.3251-2A>G (n.3251-2A>G) c.3314-2A>G (n.3314-2A>G) c.3323-2A>G (n.3323-2A>G) c.3467-2A>G (n.3467-2A>G) c.*3176-2A>G (n.*3176-2A>G) n.2807A>G c.3449-2A>G (n.3449-2A>G) c.3566-2A>G (n.3566-2A>G) c.3488-2A>G (n.3488-2A>G) c.3446-2A>G (n.3446-2A>G) c.3431-2A>G (n.3431-2A>G) c.3401-2A>G (n.3401-2A>G) c.3509-2A>G (n.3509-2A>G) c.3701-2A>G (n.3701-2A>G) c.3647-2A>G (n.3647-2A>G) c.3638-2A>G (n.3638-2A>G) c.3056-2A>G (n.3056-2A>G) c.3500-2A>G (n.3500-2A>G) | |
| 9 | g.135791795A>T | CA375493675 | KCNT1 | c.3503-2A>T (n.3503-2A>T) c.3407-2A>T (n.3407-2A>T) c.3251-2A>T (n.3251-2A>T) c.3314-2A>T (n.3314-2A>T) c.3323-2A>T (n.3323-2A>T) c.3467-2A>T (n.3467-2A>T) c.*3176-2A>T (n.*3176-2A>T) n.2807A>T c.3449-2A>T (n.3449-2A>T) c.3566-2A>T (n.3566-2A>T) c.3488-2A>T (n.3488-2A>T) c.3446-2A>T (n.3446-2A>T) c.3431-2A>T (n.3431-2A>T) c.3401-2A>T (n.3401-2A>T) c.3509-2A>T (n.3509-2A>T) c.3701-2A>T (n.3701-2A>T) c.3647-2A>T (n.3647-2A>T) c.3638-2A>T (n.3638-2A>T) c.3056-2A>T (n.3056-2A>T) c.3500-2A>T (n.3500-2A>T) | |
| 9 | g.135791796G>A | CA375493680 | KCNT1 | c.3503-1G>A (n.3503-1G>A) c.3407-1G>A (n.3407-1G>A) c.3251-1G>A (n.3251-1G>A) c.3314-1G>A (n.3314-1G>A) c.3323-1G>A (n.3323-1G>A) c.3467-1G>A (n.3467-1G>A) c.*3176-1G>A (n.*3176-1G>A) n.2808G>A c.3449-1G>A (n.3449-1G>A) c.3566-1G>A (n.3566-1G>A) c.3488-1G>A (n.3488-1G>A) c.3446-1G>A (n.3446-1G>A) c.3431-1G>A (n.3431-1G>A) c.3401-1G>A (n.3401-1G>A) c.3509-1G>A (n.3509-1G>A) c.3701-1G>A (n.3701-1G>A) c.3647-1G>A (n.3647-1G>A) c.3638-1G>A (n.3638-1G>A) c.3056-1G>A (n.3056-1G>A) c.3500-1G>A (n.3500-1G>A) | gnomAD v4 |
| 9 | g.135791796G>C | CA375493682 | KCNT1 | c.3503-1G>C (n.3503-1G>C) c.3407-1G>C (n.3407-1G>C) c.3251-1G>C (n.3251-1G>C) c.3314-1G>C (n.3314-1G>C) c.3323-1G>C (n.3323-1G>C) c.3467-1G>C (n.3467-1G>C) c.*3176-1G>C (n.*3176-1G>C) n.2808G>C c.3449-1G>C (n.3449-1G>C) c.3566-1G>C (n.3566-1G>C) c.3488-1G>C (n.3488-1G>C) c.3446-1G>C (n.3446-1G>C) c.3431-1G>C (n.3431-1G>C) c.3401-1G>C (n.3401-1G>C) c.3509-1G>C (n.3509-1G>C) c.3701-1G>C (n.3701-1G>C) c.3647-1G>C (n.3647-1G>C) c.3638-1G>C (n.3638-1G>C) c.3056-1G>C (n.3056-1G>C) c.3500-1G>C (n.3500-1G>C) | |
| 9 | g.135791796G>T | CA375493683 | KCNT1 | c.3503-1G>T (n.3503-1G>T) c.3407-1G>T (n.3407-1G>T) c.3251-1G>T (n.3251-1G>T) c.3314-1G>T (n.3314-1G>T) c.3323-1G>T (n.3323-1G>T) c.3467-1G>T (n.3467-1G>T) c.*3176-1G>T (n.*3176-1G>T) n.2808G>T c.3449-1G>T (n.3449-1G>T) c.3566-1G>T (n.3566-1G>T) c.3488-1G>T (n.3488-1G>T) c.3446-1G>T (n.3446-1G>T) c.3431-1G>T (n.3431-1G>T) c.3401-1G>T (n.3401-1G>T) c.3509-1G>T (n.3509-1G>T) c.3701-1G>T (n.3701-1G>T) c.3647-1G>T (n.3647-1G>T) c.3638-1G>T (n.3638-1G>T) c.3056-1G>T (n.3056-1G>T) c.3500-1G>T (n.3500-1G>T) | COSMIC COSMIC |
| 9 | g.135791797A>C | CA375493686 | KCNT1 | c.3503A>C (p.Asp1168Ala) c.3407A>C (p.Asp1136Ala) c.3251A>C (p.Asp1084Ala) c.3314A>C (p.Asp1105Ala) c.3323A>C (p.Asp1108Ala) c.3467A>C (p.Asp1156Ala) c.*3176A>C (n.*3176A>C) n.2809A>C c.3449A>C (p.Asp1150Ala) c.3566A>C (p.Asp1189Ala) c.3488A>C (p.Asp1163Ala) c.3446A>C (p.Asp1149Ala) c.3431A>C (p.Asp1144Ala) c.3401A>C (p.Asp1134Ala) c.3509A>C (p.Asp1170Ala) c.3701A>C (p.Asp1234Ala) c.3647A>C (p.Asp1216Ala) c.3638A>C (p.Asp1213Ala) c.3056A>C (p.Asp1019Ala) c.3500A>C (p.Asp1167Ala) | |
| 9 | g.135791797A>G | CA375493688 | KCNT1 | c.3503A>G (p.Asp1168Gly) c.3407A>G (p.Asp1136Gly) c.3251A>G (p.Asp1084Gly) c.3314A>G (p.Asp1105Gly) c.3323A>G (p.Asp1108Gly) c.3467A>G (p.Asp1156Gly) c.*3176A>G (n.*3176A>G) n.2809A>G c.3449A>G (p.Asp1150Gly) c.3566A>G (p.Asp1189Gly) c.3488A>G (p.Asp1163Gly) c.3446A>G (p.Asp1149Gly) c.3431A>G (p.Asp1144Gly) c.3401A>G (p.Asp1134Gly) c.3509A>G (p.Asp1170Gly) c.3701A>G (p.Asp1234Gly) c.3647A>G (p.Asp1216Gly) c.3638A>G (p.Asp1213Gly) c.3056A>G (p.Asp1019Gly) c.3500A>G (p.Asp1167Gly) | |
| 9 | g.135791797A>T | CA375493689 | KCNT1 | c.3503A>T (p.Asp1168Val) c.3407A>T (p.Asp1136Val) c.3251A>T (p.Asp1084Val) c.3314A>T (p.Asp1105Val) c.3323A>T (p.Asp1108Val) c.3467A>T (p.Asp1156Val) c.*3176A>T (n.*3176A>T) n.2809A>T c.3449A>T (p.Asp1150Val) c.3566A>T (p.Asp1189Val) c.3488A>T (p.Asp1163Val) c.3446A>T (p.Asp1149Val) c.3431A>T (p.Asp1144Val) c.3401A>T (p.Asp1134Val) c.3509A>T (p.Asp1170Val) c.3701A>T (p.Asp1234Val) c.3647A>T (p.Asp1216Val) c.3638A>T (p.Asp1213Val) c.3056A>T (p.Asp1019Val) c.3500A>T (p.Asp1167Val) | |
| 9 | g.135791798C>A | CA375493692 | KCNT1 | c.3504C>A (p.Asp1168Glu) c.3408C>A (p.Asp1136Glu) c.3252C>A (p.Asp1084Glu) c.3315C>A (p.Asp1105Glu) c.3324C>A (p.Asp1108Glu) c.3468C>A (p.Asp1156Glu) c.*3177C>A (n.*3177C>A) n.2810C>A c.3450C>A (p.Asp1150Glu) c.3567C>A (p.Asp1189Glu) c.3489C>A (p.Asp1163Glu) c.3447C>A (p.Asp1149Glu) c.3432C>A (p.Asp1144Glu) c.3402C>A (p.Asp1134Glu) c.3510C>A (p.Asp1170Glu) c.3702C>A (p.Asp1234Glu) c.3648C>A (p.Asp1216Glu) c.3639C>A (p.Asp1213Glu) c.3057C>A (p.Asp1019Glu) c.3501C>A (p.Asp1167Glu) | |
| 9 | g.135791798C= | CA1883892474 | KCNT1 | c.3504C= (p.Asp1168=) c.3408C= (p.Asp1136=) c.3252C= (p.Asp1084=) c.3315C= (p.Asp1105=) c.3324C= (p.Asp1108=) c.3468C= (p.Asp1156=) c.*3177C= (n.*3177C=) n.2810C= c.3450C= (p.Asp1150=) c.3567C= (p.Asp1189=) c.3489C= (p.Asp1163=) c.3447C= (p.Asp1149=) c.3432C= (p.Asp1144=) c.3402C= (p.Asp1134=) c.3510C= (p.Asp1170=) c.3702C= (p.Asp1234=) c.3648C= (p.Asp1216=) c.3639C= (p.Asp1213=) c.3057C= (p.Asp1019=) c.3501C= (p.Asp1167=) | |
| 9 | g.135791798C>G | CA375493694 | KCNT1 | c.3504C>G (p.Asp1168Glu) c.3408C>G (p.Asp1136Glu) c.3252C>G (p.Asp1084Glu) c.3315C>G (p.Asp1105Glu) c.3324C>G (p.Asp1108Glu) c.3468C>G (p.Asp1156Glu) c.*3177C>G (n.*3177C>G) n.2810C>G c.3450C>G (p.Asp1150Glu) c.3567C>G (p.Asp1189Glu) c.3489C>G (p.Asp1163Glu) c.3447C>G (p.Asp1149Glu) c.3432C>G (p.Asp1144Glu) c.3402C>G (p.Asp1134Glu) c.3510C>G (p.Asp1170Glu) c.3702C>G (p.Asp1234Glu) c.3648C>G (p.Asp1216Glu) c.3639C>G (p.Asp1213Glu) c.3057C>G (p.Asp1019Glu) c.3501C>G (p.Asp1167Glu) | |
| 9 | g.135791798C>T | CA5327932 | KCNT1 | c.3504C>T (p.Asp1168=) c.3408C>T (p.Asp1136=) c.3252C>T (p.Asp1084=) c.3315C>T (p.Asp1105=) c.3324C>T (p.Asp1108=) c.3468C>T (p.Asp1156=) c.*3177C>T (n.*3177C>T) n.2810C>T c.3450C>T (p.Asp1150=) c.3567C>T (p.Asp1189=) c.3489C>T (p.Asp1163=) c.3447C>T (p.Asp1149=) c.3432C>T (p.Asp1144=) c.3402C>T (p.Asp1134=) c.3510C>T (p.Asp1170=) c.3702C>T (p.Asp1234=) c.3648C>T (p.Asp1216=) c.3639C>T (p.Asp1213=) c.3057C>T (p.Asp1019=) c.3501C>T (p.Asp1167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135791799G>A | CA5327933 | KCNT1 | c.3505G>A (p.Glu1169Lys) c.3409G>A (p.Glu1137Lys) c.3253G>A (p.Glu1085Lys) c.3316G>A (p.Glu1106Lys) c.3325G>A (p.Glu1109Lys) c.3469G>A (p.Glu1157Lys) c.*3178G>A (n.*3178G>A) n.2811G>A c.3451G>A (p.Glu1151Lys) c.3568G>A (p.Glu1190Lys) c.3490G>A (p.Glu1164Lys) c.3448G>A (p.Glu1150Lys) c.3433G>A (p.Glu1145Lys) c.3403G>A (p.Glu1135Lys) c.3511G>A (p.Glu1171Lys) c.3703G>A (p.Glu1235Lys) c.3649G>A (p.Glu1217Lys) c.3640G>A (p.Glu1214Lys) c.3058G>A (p.Glu1020Lys) c.3502G>A (p.Glu1168Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135791799G>C | CA375493699 | KCNT1 | c.3505G>C (p.Glu1169Gln) c.3409G>C (p.Glu1137Gln) c.3253G>C (p.Glu1085Gln) c.3316G>C (p.Glu1106Gln) c.3325G>C (p.Glu1109Gln) c.3469G>C (p.Glu1157Gln) c.*3178G>C (n.*3178G>C) n.2811G>C c.3451G>C (p.Glu1151Gln) c.3568G>C (p.Glu1190Gln) c.3490G>C (p.Glu1164Gln) c.3448G>C (p.Glu1150Gln) c.3433G>C (p.Glu1145Gln) c.3403G>C (p.Glu1135Gln) c.3511G>C (p.Glu1171Gln) c.3703G>C (p.Glu1235Gln) c.3649G>C (p.Glu1217Gln) c.3640G>C (p.Glu1214Gln) c.3058G>C (p.Glu1020Gln) c.3502G>C (p.Glu1168Gln) | gnomAD v4 |
| 9 | g.135791799G= | CA1883892475 | KCNT1 | c.3505G= (p.Glu1169=) c.3409G= (p.Glu1137=) c.3253G= (p.Glu1085=) c.3316G= (p.Glu1106=) c.3325G= (p.Glu1109=) c.3469G= (p.Glu1157=) c.*3178G= (n.*3178G=) n.2811G= c.3451G= (p.Glu1151=) c.3568G= (p.Glu1190=) c.3490G= (p.Glu1164=) c.3448G= (p.Glu1150=) c.3433G= (p.Glu1145=) c.3403G= (p.Glu1135=) c.3511G= (p.Glu1171=) c.3703G= (p.Glu1235=) c.3649G= (p.Glu1217=) c.3640G= (p.Glu1214=) c.3058G= (p.Glu1020=) c.3502G= (p.Glu1168=) | |
| 9 | g.135791799G>T | CA375493697 | KCNT1 | c.3505G>T (p.Glu1169Ter) c.3409G>T (p.Glu1137Ter) c.3253G>T (p.Glu1085Ter) c.3316G>T (p.Glu1106Ter) c.3325G>T (p.Glu1109Ter) c.3469G>T (p.Glu1157Ter) c.*3178G>T (n.*3178G>T) n.2811G>T c.3451G>T (p.Glu1151Ter) c.3568G>T (p.Glu1190Ter) c.3490G>T (p.Glu1164Ter) c.3448G>T (p.Glu1150Ter) c.3433G>T (p.Glu1145Ter) c.3403G>T (p.Glu1135Ter) c.3511G>T (p.Glu1171Ter) c.3703G>T (p.Glu1235Ter) c.3649G>T (p.Glu1217Ter) c.3640G>T (p.Glu1214Ter) c.3058G>T (p.Glu1020Ter) c.3502G>T (p.Glu1168Ter) | |
| 9 | g.135791800A>C | CA375493702 | KCNT1 | c.3506A>C (p.Glu1169Ala) c.3410A>C (p.Glu1137Ala) c.3254A>C (p.Glu1085Ala) c.3317A>C (p.Glu1106Ala) c.3326A>C (p.Glu1109Ala) c.3470A>C (p.Glu1157Ala) c.*3179A>C (n.*3179A>C) n.2812A>C c.3452A>C (p.Glu1151Ala) c.3569A>C (p.Glu1190Ala) c.3491A>C (p.Glu1164Ala) c.3449A>C (p.Glu1150Ala) c.3434A>C (p.Glu1145Ala) c.3404A>C (p.Glu1135Ala) c.3512A>C (p.Glu1171Ala) c.3704A>C (p.Glu1235Ala) c.3650A>C (p.Glu1217Ala) c.3641A>C (p.Glu1214Ala) c.3059A>C (p.Glu1020Ala) c.3503A>C (p.Glu1168Ala) | |
| 9 | g.135791800A>G | CA375493704 | KCNT1 | c.3506A>G (p.Glu1169Gly) c.3410A>G (p.Glu1137Gly) c.3254A>G (p.Glu1085Gly) c.3317A>G (p.Glu1106Gly) c.3326A>G (p.Glu1109Gly) c.3470A>G (p.Glu1157Gly) c.*3179A>G (n.*3179A>G) n.2812A>G c.3452A>G (p.Glu1151Gly) c.3569A>G (p.Glu1190Gly) c.3491A>G (p.Glu1164Gly) c.3449A>G (p.Glu1150Gly) c.3434A>G (p.Glu1145Gly) c.3404A>G (p.Glu1135Gly) c.3512A>G (p.Glu1171Gly) c.3704A>G (p.Glu1235Gly) c.3650A>G (p.Glu1217Gly) c.3641A>G (p.Glu1214Gly) c.3059A>G (p.Glu1020Gly) c.3503A>G (p.Glu1168Gly) | |
| 9 | g.135791800A>T | CA375493706 | KCNT1 | c.3506A>T (p.Glu1169Val) c.3410A>T (p.Glu1137Val) c.3254A>T (p.Glu1085Val) c.3317A>T (p.Glu1106Val) c.3326A>T (p.Glu1109Val) c.3470A>T (p.Glu1157Val) c.*3179A>T (n.*3179A>T) n.2812A>T c.3452A>T (p.Glu1151Val) c.3569A>T (p.Glu1190Val) c.3491A>T (p.Glu1164Val) c.3449A>T (p.Glu1150Val) c.3434A>T (p.Glu1145Val) c.3404A>T (p.Glu1135Val) c.3512A>T (p.Glu1171Val) c.3704A>T (p.Glu1235Val) c.3650A>T (p.Glu1217Val) c.3641A>T (p.Glu1214Val) c.3059A>T (p.Glu1020Val) c.3503A>T (p.Glu1168Val) | |
| 9 | g.135791801G>A | CA467701093 | KCNT1 | c.3507G>A (p.Glu1169=) c.3411G>A (p.Glu1137=) c.3255G>A (p.Glu1085=) c.3318G>A (p.Glu1106=) c.3327G>A (p.Glu1109=) c.3471G>A (p.Glu1157=) c.*3180G>A (n.*3180G>A) n.2813G>A c.3453G>A (p.Glu1151=) c.3570G>A (p.Glu1190=) c.3492G>A (p.Glu1164=) c.3450G>A (p.Glu1150=) c.3435G>A (p.Glu1145=) c.3405G>A (p.Glu1135=) c.3513G>A (p.Glu1171=) c.3705G>A (p.Glu1235=) c.3651G>A (p.Glu1217=) c.3642G>A (p.Glu1214=) c.3060G>A (p.Glu1020=) c.3504G>A (p.Glu1168=) | |
| 9 | g.135791801G>C | CA375493708 | KCNT1 | c.3507G>C (p.Glu1169Asp) c.3411G>C (p.Glu1137Asp) c.3255G>C (p.Glu1085Asp) c.3318G>C (p.Glu1106Asp) c.3327G>C (p.Glu1109Asp) c.3471G>C (p.Glu1157Asp) c.*3180G>C (n.*3180G>C) n.2813G>C c.3453G>C (p.Glu1151Asp) c.3570G>C (p.Glu1190Asp) c.3492G>C (p.Glu1164Asp) c.3450G>C (p.Glu1150Asp) c.3435G>C (p.Glu1145Asp) c.3405G>C (p.Glu1135Asp) c.3513G>C (p.Glu1171Asp) c.3705G>C (p.Glu1235Asp) c.3651G>C (p.Glu1217Asp) c.3642G>C (p.Glu1214Asp) c.3060G>C (p.Glu1020Asp) c.3504G>C (p.Glu1168Asp) | |
| 9 | g.135791801G>T | CA375493710 | KCNT1 | c.3507G>T (p.Glu1169Asp) c.3411G>T (p.Glu1137Asp) c.3255G>T (p.Glu1085Asp) c.3318G>T (p.Glu1106Asp) c.3327G>T (p.Glu1109Asp) c.3471G>T (p.Glu1157Asp) c.*3180G>T (n.*3180G>T) n.2813G>T c.3453G>T (p.Glu1151Asp) c.3570G>T (p.Glu1190Asp) c.3492G>T (p.Glu1164Asp) c.3450G>T (p.Glu1150Asp) c.3435G>T (p.Glu1145Asp) c.3405G>T (p.Glu1135Asp) c.3513G>T (p.Glu1171Asp) c.3705G>T (p.Glu1235Asp) c.3651G>T (p.Glu1217Asp) c.3642G>T (p.Glu1214Asp) c.3060G>T (p.Glu1020Asp) c.3504G>T (p.Glu1168Asp) | gnomAD v4 |
| 9 | g.135791802A= | CA1883892476 | KCNT1 | c.3508A= (p.Met1170=) c.3412A= (p.Met1138=) c.3256A= (p.Met1086=) c.3319A= (p.Met1107=) c.3328A= (p.Met1110=) c.3472A= (p.Met1158=) c.*3181A= (n.*3181A=) n.2814A= c.3454A= (p.Met1152=) c.3571A= (p.Met1191=) c.3493A= (p.Met1165=) c.3451A= (p.Met1151=) c.3436A= (p.Met1146=) c.3406A= (p.Met1136=) c.3514A= (p.Met1172=) c.3706A= (p.Met1236=) c.3652A= (p.Met1218=) c.3643A= (p.Met1215=) c.3061A= (p.Met1021=) c.3505A= (p.Met1169=) | |
| 9 | g.135791802A>C | CA375493713 | KCNT1 | c.3508A>C (p.Met1170Leu) c.3412A>C (p.Met1138Leu) c.3256A>C (p.Met1086Leu) c.3319A>C (p.Met1107Leu) c.3328A>C (p.Met1110Leu) c.3472A>C (p.Met1158Leu) c.*3181A>C (n.*3181A>C) n.2814A>C c.3454A>C (p.Met1152Leu) c.3571A>C (p.Met1191Leu) c.3493A>C (p.Met1165Leu) c.3451A>C (p.Met1151Leu) c.3436A>C (p.Met1146Leu) c.3406A>C (p.Met1136Leu) c.3514A>C (p.Met1172Leu) c.3706A>C (p.Met1236Leu) c.3652A>C (p.Met1218Leu) c.3643A>C (p.Met1215Leu) c.3061A>C (p.Met1021Leu) c.3505A>C (p.Met1169Leu) | |
| 9 | g.135791802A>G | CA375493714 | KCNT1 | c.3508A>G (p.Met1170Val) c.3412A>G (p.Met1138Val) c.3256A>G (p.Met1086Val) c.3319A>G (p.Met1107Val) c.3328A>G (p.Met1110Val) c.3472A>G (p.Met1158Val) c.*3181A>G (n.*3181A>G) n.2814A>G c.3454A>G (p.Met1152Val) c.3571A>G (p.Met1191Val) c.3493A>G (p.Met1165Val) c.3451A>G (p.Met1151Val) c.3436A>G (p.Met1146Val) c.3406A>G (p.Met1136Val) c.3514A>G (p.Met1172Val) c.3706A>G (p.Met1236Val) c.3652A>G (p.Met1218Val) c.3643A>G (p.Met1215Val) c.3061A>G (p.Met1021Val) c.3505A>G (p.Met1169Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791802A>T | CA375493716 | KCNT1 | c.3508A>T (p.Met1170Leu) c.3412A>T (p.Met1138Leu) c.3256A>T (p.Met1086Leu) c.3319A>T (p.Met1107Leu) c.3328A>T (p.Met1110Leu) c.3472A>T (p.Met1158Leu) c.*3181A>T (n.*3181A>T) n.2814A>T c.3454A>T (p.Met1152Leu) c.3571A>T (p.Met1191Leu) c.3493A>T (p.Met1165Leu) c.3451A>T (p.Met1151Leu) c.3436A>T (p.Met1146Leu) c.3406A>T (p.Met1136Leu) c.3514A>T (p.Met1172Leu) c.3706A>T (p.Met1236Leu) c.3652A>T (p.Met1218Leu) c.3643A>T (p.Met1215Leu) c.3061A>T (p.Met1021Leu) c.3505A>T (p.Met1169Leu) | |
| 9 | g.135791803T>A | CA375493718 | KCNT1 | c.3509T>A (p.Met1170Lys) c.3413T>A (p.Met1138Lys) c.3257T>A (p.Met1086Lys) c.3320T>A (p.Met1107Lys) c.3329T>A (p.Met1110Lys) c.3473T>A (p.Met1158Lys) c.*3182T>A (n.*3182T>A) n.2815T>A c.3455T>A (p.Met1152Lys) c.3572T>A (p.Met1191Lys) c.3494T>A (p.Met1165Lys) c.3452T>A (p.Met1151Lys) c.3437T>A (p.Met1146Lys) c.3407T>A (p.Met1136Lys) c.3515T>A (p.Met1172Lys) c.3707T>A (p.Met1236Lys) c.3653T>A (p.Met1218Lys) c.3644T>A (p.Met1215Lys) c.3062T>A (p.Met1021Lys) c.3506T>A (p.Met1169Lys) | |
| 9 | g.135791803T>C | CA375493720 | KCNT1 | c.3509T>C (p.Met1170Thr) c.3413T>C (p.Met1138Thr) c.3257T>C (p.Met1086Thr) c.3320T>C (p.Met1107Thr) c.3329T>C (p.Met1110Thr) c.3473T>C (p.Met1158Thr) c.*3182T>C (n.*3182T>C) n.2815T>C c.3455T>C (p.Met1152Thr) c.3572T>C (p.Met1191Thr) c.3494T>C (p.Met1165Thr) c.3452T>C (p.Met1151Thr) c.3437T>C (p.Met1146Thr) c.3407T>C (p.Met1136Thr) c.3515T>C (p.Met1172Thr) c.3707T>C (p.Met1236Thr) c.3653T>C (p.Met1218Thr) c.3644T>C (p.Met1215Thr) c.3062T>C (p.Met1021Thr) c.3506T>C (p.Met1169Thr) | |
| 9 | g.135791803T>G | CA375493721 | KCNT1 | c.3509T>G (p.Met1170Arg) c.3413T>G (p.Met1138Arg) c.3257T>G (p.Met1086Arg) c.3320T>G (p.Met1107Arg) c.3329T>G (p.Met1110Arg) c.3473T>G (p.Met1158Arg) c.*3182T>G (n.*3182T>G) n.2815T>G c.3455T>G (p.Met1152Arg) c.3572T>G (p.Met1191Arg) c.3494T>G (p.Met1165Arg) c.3452T>G (p.Met1151Arg) c.3437T>G (p.Met1146Arg) c.3407T>G (p.Met1136Arg) c.3515T>G (p.Met1172Arg) c.3707T>G (p.Met1236Arg) c.3653T>G (p.Met1218Arg) c.3644T>G (p.Met1215Arg) c.3062T>G (p.Met1021Arg) c.3506T>G (p.Met1169Arg) | |
| 9 | g.135791804G>A | CA375493727 | KCNT1 | c.3510G>A (p.Met1170Ile) c.3414G>A (p.Met1138Ile) c.3258G>A (p.Met1086Ile) c.3321G>A (p.Met1107Ile) c.3330G>A (p.Met1110Ile) c.3474G>A (p.Met1158Ile) c.*3183G>A (n.*3183G>A) n.2816G>A c.3456G>A (p.Met1152Ile) c.3573G>A (p.Met1191Ile) c.3495G>A (p.Met1165Ile) c.3453G>A (p.Met1151Ile) c.3438G>A (p.Met1146Ile) c.3408G>A (p.Met1136Ile) c.3516G>A (p.Met1172Ile) c.3708G>A (p.Met1236Ile) c.3654G>A (p.Met1218Ile) c.3645G>A (p.Met1215Ile) c.3063G>A (p.Met1021Ile) c.3507G>A (p.Met1169Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.135791804G>C | CA375493726 | KCNT1 | c.3510G>C (p.Met1170Ile) c.3414G>C (p.Met1138Ile) c.3258G>C (p.Met1086Ile) c.3321G>C (p.Met1107Ile) c.3330G>C (p.Met1110Ile) c.3474G>C (p.Met1158Ile) c.*3183G>C (n.*3183G>C) n.2816G>C c.3456G>C (p.Met1152Ile) c.3573G>C (p.Met1191Ile) c.3495G>C (p.Met1165Ile) c.3453G>C (p.Met1151Ile) c.3438G>C (p.Met1146Ile) c.3408G>C (p.Met1136Ile) c.3516G>C (p.Met1172Ile) c.3708G>C (p.Met1236Ile) c.3654G>C (p.Met1218Ile) c.3645G>C (p.Met1215Ile) c.3063G>C (p.Met1021Ile) c.3507G>C (p.Met1169Ile) | |
| 9 | g.135791804G= | CA1883892477 | KCNT1 | c.3510G= (p.Met1170=) c.3414G= (p.Met1138=) c.3258G= (p.Met1086=) c.3321G= (p.Met1107=) c.3330G= (p.Met1110=) c.3474G= (p.Met1158=) c.*3183G= (n.*3183G=) n.2816G= c.3456G= (p.Met1152=) c.3573G= (p.Met1191=) c.3495G= (p.Met1165=) c.3453G= (p.Met1151=) c.3438G= (p.Met1146=) c.3408G= (p.Met1136=) c.3516G= (p.Met1172=) c.3708G= (p.Met1236=) c.3654G= (p.Met1218=) c.3645G= (p.Met1215=) c.3063G= (p.Met1021=) c.3507G= (p.Met1169=) | |
| 9 | g.135791804G>T | CA375493724 | KCNT1 | c.3510G>T (p.Met1170Ile) c.3414G>T (p.Met1138Ile) c.3258G>T (p.Met1086Ile) c.3321G>T (p.Met1107Ile) c.3330G>T (p.Met1110Ile) c.3474G>T (p.Met1158Ile) c.*3183G>T (n.*3183G>T) n.2816G>T c.3456G>T (p.Met1152Ile) c.3573G>T (p.Met1191Ile) c.3495G>T (p.Met1165Ile) c.3453G>T (p.Met1151Ile) c.3438G>T (p.Met1146Ile) c.3408G>T (p.Met1136Ile) c.3516G>T (p.Met1172Ile) c.3708G>T (p.Met1236Ile) c.3654G>T (p.Met1218Ile) c.3645G>T (p.Met1215Ile) c.3063G>T (p.Met1021Ile) c.3507G>T (p.Met1169Ile) | dbSNP |
| 9 | g.135791805A>C | CA375493730 | KCNT1 | c.3511A>C (p.Asn1171His) c.3415A>C (p.Asn1139His) c.3259A>C (p.Asn1087His) c.3322A>C (p.Asn1108His) c.3331A>C (p.Asn1111His) c.3475A>C (p.Asn1159His) c.*3184A>C (n.*3184A>C) n.2817A>C c.3457A>C (p.Asn1153His) c.3574A>C (p.Asn1192His) c.3496A>C (p.Asn1166His) c.3454A>C (p.Asn1152His) c.3439A>C (p.Asn1147His) c.3409A>C (p.Asn1137His) c.3517A>C (p.Asn1173His) c.3709A>C (p.Asn1237His) c.3655A>C (p.Asn1219His) c.3646A>C (p.Asn1216His) c.3064A>C (p.Asn1022His) c.3508A>C (p.Asn1170His) | |
| 9 | g.135791805A>G | CA375493732 | KCNT1 | c.3511A>G (p.Asn1171Asp) c.3415A>G (p.Asn1139Asp) c.3259A>G (p.Asn1087Asp) c.3322A>G (p.Asn1108Asp) c.3331A>G (p.Asn1111Asp) c.3475A>G (p.Asn1159Asp) c.*3184A>G (n.*3184A>G) n.2817A>G c.3457A>G (p.Asn1153Asp) c.3574A>G (p.Asn1192Asp) c.3496A>G (p.Asn1166Asp) c.3454A>G (p.Asn1152Asp) c.3439A>G (p.Asn1147Asp) c.3409A>G (p.Asn1137Asp) c.3517A>G (p.Asn1173Asp) c.3709A>G (p.Asn1237Asp) c.3655A>G (p.Asn1219Asp) c.3646A>G (p.Asn1216Asp) c.3064A>G (p.Asn1022Asp) c.3508A>G (p.Asn1170Asp) | |
| 9 | g.135791805A>T | CA375493734 | KCNT1 | c.3511A>T (p.Asn1171Tyr) c.3415A>T (p.Asn1139Tyr) c.3259A>T (p.Asn1087Tyr) c.3322A>T (p.Asn1108Tyr) c.3331A>T (p.Asn1111Tyr) c.3475A>T (p.Asn1159Tyr) c.*3184A>T (n.*3184A>T) n.2817A>T c.3457A>T (p.Asn1153Tyr) c.3574A>T (p.Asn1192Tyr) c.3496A>T (p.Asn1166Tyr) c.3454A>T (p.Asn1152Tyr) c.3439A>T (p.Asn1147Tyr) c.3409A>T (p.Asn1137Tyr) c.3517A>T (p.Asn1173Tyr) c.3709A>T (p.Asn1237Tyr) c.3655A>T (p.Asn1219Tyr) c.3646A>T (p.Asn1216Tyr) c.3064A>T (p.Asn1022Tyr) c.3508A>T (p.Asn1170Tyr) | |
| 9 | g.135791806A>C | CA375493736 | KCNT1 | c.3512A>C (p.Asn1171Thr) c.3416A>C (p.Asn1139Thr) c.3260A>C (p.Asn1087Thr) c.3323A>C (p.Asn1108Thr) c.3332A>C (p.Asn1111Thr) c.3476A>C (p.Asn1159Thr) c.*3185A>C (n.*3185A>C) n.2818A>C c.3458A>C (p.Asn1153Thr) c.3575A>C (p.Asn1192Thr) c.3497A>C (p.Asn1166Thr) c.3455A>C (p.Asn1152Thr) c.3440A>C (p.Asn1147Thr) c.3410A>C (p.Asn1137Thr) c.3518A>C (p.Asn1173Thr) c.3710A>C (p.Asn1237Thr) c.3656A>C (p.Asn1219Thr) c.3647A>C (p.Asn1216Thr) c.3065A>C (p.Asn1022Thr) c.3509A>C (p.Asn1170Thr) | |
| 9 | g.135791806A>G | CA375493737 | KCNT1 | c.3512A>G (p.Asn1171Ser) c.3416A>G (p.Asn1139Ser) c.3260A>G (p.Asn1087Ser) c.3323A>G (p.Asn1108Ser) c.3332A>G (p.Asn1111Ser) c.3476A>G (p.Asn1159Ser) c.*3185A>G (n.*3185A>G) n.2818A>G c.3458A>G (p.Asn1153Ser) c.3575A>G (p.Asn1192Ser) c.3497A>G (p.Asn1166Ser) c.3455A>G (p.Asn1152Ser) c.3440A>G (p.Asn1147Ser) c.3410A>G (p.Asn1137Ser) c.3518A>G (p.Asn1173Ser) c.3710A>G (p.Asn1237Ser) c.3656A>G (p.Asn1219Ser) c.3647A>G (p.Asn1216Ser) c.3065A>G (p.Asn1022Ser) c.3509A>G (p.Asn1170Ser) | |
| 9 | g.135791806A>T | CA375493738 | KCNT1 | c.3512A>T (p.Asn1171Ile) c.3416A>T (p.Asn1139Ile) c.3260A>T (p.Asn1087Ile) c.3323A>T (p.Asn1108Ile) c.3332A>T (p.Asn1111Ile) c.3476A>T (p.Asn1159Ile) c.*3185A>T (n.*3185A>T) n.2818A>T c.3458A>T (p.Asn1153Ile) c.3575A>T (p.Asn1192Ile) c.3497A>T (p.Asn1166Ile) c.3455A>T (p.Asn1152Ile) c.3440A>T (p.Asn1147Ile) c.3410A>T (p.Asn1137Ile) c.3518A>T (p.Asn1173Ile) c.3710A>T (p.Asn1237Ile) c.3656A>T (p.Asn1219Ile) c.3647A>T (p.Asn1216Ile) c.3065A>T (p.Asn1022Ile) c.3509A>T (p.Asn1170Ile) | |
| 9 | g.135791807C>A | CA375493741 | KCNT1 | c.3513C>A (p.Asn1171Lys) c.3417C>A (p.Asn1139Lys) c.3261C>A (p.Asn1087Lys) c.3324C>A (p.Asn1108Lys) c.3333C>A (p.Asn1111Lys) c.3477C>A (p.Asn1159Lys) c.*3186C>A (n.*3186C>A) n.2819C>A c.3459C>A (p.Asn1153Lys) c.3576C>A (p.Asn1192Lys) c.3498C>A (p.Asn1166Lys) c.3456C>A (p.Asn1152Lys) c.3441C>A (p.Asn1147Lys) c.3411C>A (p.Asn1137Lys) c.3519C>A (p.Asn1173Lys) c.3711C>A (p.Asn1237Lys) c.3657C>A (p.Asn1219Lys) c.3648C>A (p.Asn1216Lys) c.3066C>A (p.Asn1022Lys) c.3510C>A (p.Asn1170Lys) | |
| 9 | g.135791807C= | CA1883892478 | KCNT1 | c.3513C= (p.Asn1171=) c.3417C= (p.Asn1139=) c.3261C= (p.Asn1087=) c.3324C= (p.Asn1108=) c.3333C= (p.Asn1111=) c.3477C= (p.Asn1159=) c.*3186C= (n.*3186C=) n.2819C= c.3459C= (p.Asn1153=) c.3576C= (p.Asn1192=) c.3498C= (p.Asn1166=) c.3456C= (p.Asn1152=) c.3441C= (p.Asn1147=) c.3411C= (p.Asn1137=) c.3519C= (p.Asn1173=) c.3711C= (p.Asn1237=) c.3657C= (p.Asn1219=) c.3648C= (p.Asn1216=) c.3066C= (p.Asn1022=) c.3510C= (p.Asn1170=) | |
| 9 | g.135791807C>G | CA375493742 | KCNT1 | c.3513C>G (p.Asn1171Lys) c.3417C>G (p.Asn1139Lys) c.3261C>G (p.Asn1087Lys) c.3324C>G (p.Asn1108Lys) c.3333C>G (p.Asn1111Lys) c.3477C>G (p.Asn1159Lys) c.*3186C>G (n.*3186C>G) n.2819C>G c.3459C>G (p.Asn1153Lys) c.3576C>G (p.Asn1192Lys) c.3498C>G (p.Asn1166Lys) c.3456C>G (p.Asn1152Lys) c.3441C>G (p.Asn1147Lys) c.3411C>G (p.Asn1137Lys) c.3519C>G (p.Asn1173Lys) c.3711C>G (p.Asn1237Lys) c.3657C>G (p.Asn1219Lys) c.3648C>G (p.Asn1216Lys) c.3066C>G (p.Asn1022Lys) c.3510C>G (p.Asn1170Lys) | |
| 9 | g.135791807C>T | CA467701094 | KCNT1 | c.3513C>T (p.Asn1171=) c.3417C>T (p.Asn1139=) c.3261C>T (p.Asn1087=) c.3324C>T (p.Asn1108=) c.3333C>T (p.Asn1111=) c.3477C>T (p.Asn1159=) c.*3186C>T (n.*3186C>T) n.2819C>T c.3459C>T (p.Asn1153=) c.3576C>T (p.Asn1192=) c.3498C>T (p.Asn1166=) c.3456C>T (p.Asn1152=) c.3441C>T (p.Asn1147=) c.3411C>T (p.Asn1137=) c.3519C>T (p.Asn1173=) c.3711C>T (p.Asn1237=) c.3657C>T (p.Asn1219=) c.3648C>T (p.Asn1216=) c.3066C>T (p.Asn1022=) c.3510C>T (p.Asn1170=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791808G>A | CA201431355 | KCNT1 | c.3514G>A (p.Asp1172Asn) c.3418G>A (p.Asp1140Asn) c.3262G>A (p.Asp1088Asn) c.3325G>A (p.Asp1109Asn) c.3334G>A (p.Asp1112Asn) c.3478G>A (p.Asp1160Asn) c.*3187G>A (n.*3187G>A) n.2820G>A c.3460G>A (p.Asp1154Asn) c.3577G>A (p.Asp1193Asn) c.3499G>A (p.Asp1167Asn) c.3457G>A (p.Asp1153Asn) c.3442G>A (p.Asp1148Asn) c.3412G>A (p.Asp1138Asn) c.3520G>A (p.Asp1174Asn) c.3712G>A (p.Asp1238Asn) c.3658G>A (p.Asp1220Asn) c.3649G>A (p.Asp1217Asn) c.3067G>A (p.Asp1023Asn) c.3511G>A (p.Asp1171Asn) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.135791808G>C | CA375493746 | KCNT1 | c.3514G>C (p.Asp1172His) c.3418G>C (p.Asp1140His) c.3262G>C (p.Asp1088His) c.3325G>C (p.Asp1109His) c.3334G>C (p.Asp1112His) c.3478G>C (p.Asp1160His) c.*3187G>C (n.*3187G>C) n.2820G>C c.3460G>C (p.Asp1154His) c.3577G>C (p.Asp1193His) c.3499G>C (p.Asp1167His) c.3457G>C (p.Asp1153His) c.3442G>C (p.Asp1148His) c.3412G>C (p.Asp1138His) c.3520G>C (p.Asp1174His) c.3712G>C (p.Asp1238His) c.3658G>C (p.Asp1220His) c.3649G>C (p.Asp1217His) c.3067G>C (p.Asp1023His) c.3511G>C (p.Asp1171His) | |
| 9 | g.135791808G= | CA1883892479 | KCNT1 | c.3514G= (p.Asp1172=) c.3418G= (p.Asp1140=) c.3262G= (p.Asp1088=) c.3325G= (p.Asp1109=) c.3334G= (p.Asp1112=) c.3478G= (p.Asp1160=) c.*3187G= (n.*3187G=) n.2820G= c.3460G= (p.Asp1154=) c.3577G= (p.Asp1193=) c.3499G= (p.Asp1167=) c.3457G= (p.Asp1153=) c.3442G= (p.Asp1148=) c.3412G= (p.Asp1138=) c.3520G= (p.Asp1174=) c.3712G= (p.Asp1238=) c.3658G= (p.Asp1220=) c.3649G= (p.Asp1217=) c.3067G= (p.Asp1023=) c.3511G= (p.Asp1171=) | |
| 9 | g.135791808G>T | CA375493747 | KCNT1 | c.3514G>T (p.Asp1172Tyr) c.3418G>T (p.Asp1140Tyr) c.3262G>T (p.Asp1088Tyr) c.3325G>T (p.Asp1109Tyr) c.3334G>T (p.Asp1112Tyr) c.3478G>T (p.Asp1160Tyr) c.*3187G>T (n.*3187G>T) n.2820G>T c.3460G>T (p.Asp1154Tyr) c.3577G>T (p.Asp1193Tyr) c.3499G>T (p.Asp1167Tyr) c.3457G>T (p.Asp1153Tyr) c.3442G>T (p.Asp1148Tyr) c.3412G>T (p.Asp1138Tyr) c.3520G>T (p.Asp1174Tyr) c.3712G>T (p.Asp1238Tyr) c.3658G>T (p.Asp1220Tyr) c.3649G>T (p.Asp1217Tyr) c.3067G>T (p.Asp1023Tyr) c.3511G>T (p.Asp1171Tyr) | |
| 9 | g.135791808_135791811delinsGACC | CA1883892480 | KCNT1 | c.3514_3517delinsGACC (p.Asp1172=) c.3418_3421delinsGACC (p.Asp1140=) c.3262_3265delinsGACC (p.Asp1088=) c.3325_3328delinsGACC (p.Asp1109=) c.3334_3337delinsGACC (p.Asp1112=) c.3478_3481delinsGACC (p.Asp1160=) c.*3187_*3190delinsGACC (n.*3187_*3190delinsGACC) n.2820_2823delinsGACC c.3460_3463delinsGACC (p.Asp1154=) c.3577_3580delinsGACC (p.Asp1193=) c.3499_3502delinsGACC (p.Asp1167=) c.3457_3460delinsGACC (p.Asp1153=) c.3442_3445delinsGACC (p.Asp1148=) c.3412_3415delinsGACC (p.Asp1138=) c.3520_3523delinsGACC (p.Asp1174=) c.3712_3715delinsGACC (p.Asp1238=) c.3658_3661delinsGACC (p.Asp1220=) c.3649_3652delinsGACC (p.Asp1217=) c.3067_3070delinsGACC (p.Asp1023=) c.3511_3514delinsGACC (p.Asp1171=) | |
| 9 | g.135791809A>C | CA375493752 | KCNT1 | c.3515A>C (p.Asp1172Ala) c.3419A>C (p.Asp1140Ala) c.3263A>C (p.Asp1088Ala) c.3326A>C (p.Asp1109Ala) c.3335A>C (p.Asp1112Ala) c.3479A>C (p.Asp1160Ala) c.*3188A>C (n.*3188A>C) n.2821A>C c.3461A>C (p.Asp1154Ala) c.3578A>C (p.Asp1193Ala) c.3500A>C (p.Asp1167Ala) c.3458A>C (p.Asp1153Ala) c.3443A>C (p.Asp1148Ala) c.3413A>C (p.Asp1138Ala) c.3521A>C (p.Asp1174Ala) c.3713A>C (p.Asp1238Ala) c.3659A>C (p.Asp1220Ala) c.3650A>C (p.Asp1217Ala) c.3068A>C (p.Asp1023Ala) c.3512A>C (p.Asp1171Ala) | |
| 9 | g.135791809A>G | CA375493751 | KCNT1 | c.3515A>G (p.Asp1172Gly) c.3419A>G (p.Asp1140Gly) c.3263A>G (p.Asp1088Gly) c.3326A>G (p.Asp1109Gly) c.3335A>G (p.Asp1112Gly) c.3479A>G (p.Asp1160Gly) c.*3188A>G (n.*3188A>G) n.2821A>G c.3461A>G (p.Asp1154Gly) c.3578A>G (p.Asp1193Gly) c.3500A>G (p.Asp1167Gly) c.3458A>G (p.Asp1153Gly) c.3443A>G (p.Asp1148Gly) c.3413A>G (p.Asp1138Gly) c.3521A>G (p.Asp1174Gly) c.3713A>G (p.Asp1238Gly) c.3659A>G (p.Asp1220Gly) c.3650A>G (p.Asp1217Gly) c.3068A>G (p.Asp1023Gly) c.3512A>G (p.Asp1171Gly) | |
| 9 | g.135791809A>T | CA375493749 | KCNT1 | c.3515A>T (p.Asp1172Val) c.3419A>T (p.Asp1140Val) c.3263A>T (p.Asp1088Val) c.3326A>T (p.Asp1109Val) c.3335A>T (p.Asp1112Val) c.3479A>T (p.Asp1160Val) c.*3188A>T (n.*3188A>T) n.2821A>T c.3461A>T (p.Asp1154Val) c.3578A>T (p.Asp1193Val) c.3500A>T (p.Asp1167Val) c.3458A>T (p.Asp1153Val) c.3443A>T (p.Asp1148Val) c.3413A>T (p.Asp1138Val) c.3521A>T (p.Asp1174Val) c.3713A>T (p.Asp1238Val) c.3659A>T (p.Asp1220Val) c.3650A>T (p.Asp1217Val) c.3068A>T (p.Asp1023Val) c.3512A>T (p.Asp1171Val) | |
| 9 | g.135791813_135791815dup | CA2580617149 | KCNT1 | c.3519_3521dup (p.His1173_Gln1174insHis) c.3423_3425dup (p.His1141_Gln1142insHis) c.3267_3269dup (p.His1089_Gln1090insHis) c.3330_3332dup (p.His1110_Gln1111insHis) c.3339_3341dup (p.His1113_Gln1114insHis) c.3483_3485dup (p.His1161_Gln1162insHis) c.*3192_*3194dup (n.*3192_*3194dup) n.2825_2827dup c.3465_3467dup (p.His1155_Gln1156insHis) c.3582_3584dup (p.His1194_Gln1195insHis) c.3504_3506dup (p.His1168_Gln1169insHis) c.3462_3464dup (p.His1154_Gln1155insHis) c.3447_3449dup (p.His1149_Gln1150insHis) c.3417_3419dup (p.His1139_Gln1140insHis) c.3525_3527dup (p.His1175_Gln1176insHis) c.3717_3719dup (p.His1239_Gln1240insHis) c.3663_3665dup (p.His1221_Gln1222insHis) c.3654_3656dup (p.His1218_Gln1219insHis) c.3072_3074dup (p.His1024_Gln1025insHis) c.3516_3518dup (p.His1172_Gln1173insHis) | ClinVar dbSNP |
| 9 | g.135791813_135791815del | CA591365068 | KCNT1 | c.3519_3521del (p.His1173del) c.3423_3425del (p.His1141del) c.3267_3269del (p.His1089del) c.3330_3332del (p.His1110del) c.3339_3341del (p.His1113del) c.3483_3485del (p.His1161del) c.*3192_*3194del (n.*3192_*3194del) n.2825_2827del c.3465_3467del (p.His1155del) c.3582_3584del (p.His1194del) c.3504_3506del (p.His1168del) c.3462_3464del (p.His1154del) c.3447_3449del (p.His1149del) c.3417_3419del (p.His1139del) c.3525_3527del (p.His1175del) c.3717_3719del (p.His1239del) c.3663_3665del (p.His1221del) c.3654_3656del (p.His1218del) c.3072_3074del (p.His1024del) c.3516_3518del (p.His1172del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791810C>A | CA375493755 | KCNT1 | c.3516C>A (p.Asp1172Glu) c.3420C>A (p.Asp1140Glu) c.3264C>A (p.Asp1088Glu) c.3327C>A (p.Asp1109Glu) c.3336C>A (p.Asp1112Glu) c.3480C>A (p.Asp1160Glu) c.*3189C>A (n.*3189C>A) n.2822C>A c.3462C>A (p.Asp1154Glu) c.3579C>A (p.Asp1193Glu) c.3501C>A (p.Asp1167Glu) c.3459C>A (p.Asp1153Glu) c.3444C>A (p.Asp1148Glu) c.3414C>A (p.Asp1138Glu) c.3522C>A (p.Asp1174Glu) c.3714C>A (p.Asp1238Glu) c.3660C>A (p.Asp1220Glu) c.3651C>A (p.Asp1217Glu) c.3069C>A (p.Asp1023Glu) c.3513C>A (p.Asp1171Glu) | |
| 9 | g.135791810C>G | CA375493757 | KCNT1 | c.3516C>G (p.Asp1172Glu) c.3420C>G (p.Asp1140Glu) c.3264C>G (p.Asp1088Glu) c.3327C>G (p.Asp1109Glu) c.3336C>G (p.Asp1112Glu) c.3480C>G (p.Asp1160Glu) c.*3189C>G (n.*3189C>G) n.2822C>G c.3462C>G (p.Asp1154Glu) c.3579C>G (p.Asp1193Glu) c.3501C>G (p.Asp1167Glu) c.3459C>G (p.Asp1153Glu) c.3444C>G (p.Asp1148Glu) c.3414C>G (p.Asp1138Glu) c.3522C>G (p.Asp1174Glu) c.3714C>G (p.Asp1238Glu) c.3660C>G (p.Asp1220Glu) c.3651C>G (p.Asp1217Glu) c.3069C>G (p.Asp1023Glu) c.3513C>G (p.Asp1171Glu) | |
| 9 | g.135791810C>T | CA467701095 | KCNT1 | c.3516C>T (p.Asp1172=) c.3420C>T (p.Asp1140=) c.3264C>T (p.Asp1088=) c.3327C>T (p.Asp1109=) c.3336C>T (p.Asp1112=) c.3480C>T (p.Asp1160=) c.*3189C>T (n.*3189C>T) n.2822C>T c.3462C>T (p.Asp1154=) c.3579C>T (p.Asp1193=) c.3501C>T (p.Asp1167=) c.3459C>T (p.Asp1153=) c.3444C>T (p.Asp1148=) c.3414C>T (p.Asp1138=) c.3522C>T (p.Asp1174=) c.3714C>T (p.Asp1238=) c.3660C>T (p.Asp1220=) c.3651C>T (p.Asp1217=) c.3069C>T (p.Asp1023=) c.3513C>T (p.Asp1171=) | |
| 9 | g.135791811C>A | CA375493758 | KCNT1 | c.3517C>A (p.His1173Asn) c.3421C>A (p.His1141Asn) c.3265C>A (p.His1089Asn) c.3328C>A (p.His1110Asn) c.3337C>A (p.His1113Asn) c.3481C>A (p.His1161Asn) c.*3190C>A (n.*3190C>A) n.2823C>A c.3463C>A (p.His1155Asn) c.3580C>A (p.His1194Asn) c.3502C>A (p.His1168Asn) c.3460C>A (p.His1154Asn) c.3445C>A (p.His1149Asn) c.3415C>A (p.His1139Asn) c.3523C>A (p.His1175Asn) c.3715C>A (p.His1239Asn) c.3661C>A (p.His1221Asn) c.3652C>A (p.His1218Asn) c.3070C>A (p.His1024Asn) c.3514C>A (p.His1172Asn) | gnomAD v4 |
| 9 | g.135791811C= | CA1883892481 | KCNT1 | c.3517C= (p.His1173=) c.3421C= (p.His1141=) c.3265C= (p.His1089=) c.3328C= (p.His1110=) c.3337C= (p.His1113=) c.3481C= (p.His1161=) c.*3190C= (n.*3190C=) n.2823C= c.3463C= (p.His1155=) c.3580C= (p.His1194=) c.3502C= (p.His1168=) c.3460C= (p.His1154=) c.3445C= (p.His1149=) c.3415C= (p.His1139=) c.3523C= (p.His1175=) c.3715C= (p.His1239=) c.3661C= (p.His1221=) c.3652C= (p.His1218=) c.3070C= (p.His1024=) c.3514C= (p.His1172=) | |
| 9 | g.135791811C>G | CA375493761 | KCNT1 | c.3517C>G (p.His1173Asp) c.3421C>G (p.His1141Asp) c.3265C>G (p.His1089Asp) c.3328C>G (p.His1110Asp) c.3337C>G (p.His1113Asp) c.3481C>G (p.His1161Asp) c.*3190C>G (n.*3190C>G) n.2823C>G c.3463C>G (p.His1155Asp) c.3580C>G (p.His1194Asp) c.3502C>G (p.His1168Asp) c.3460C>G (p.His1154Asp) c.3445C>G (p.His1149Asp) c.3415C>G (p.His1139Asp) c.3523C>G (p.His1175Asp) c.3715C>G (p.His1239Asp) c.3661C>G (p.His1221Asp) c.3652C>G (p.His1218Asp) c.3070C>G (p.His1024Asp) c.3514C>G (p.His1172Asp) | |
| 9 | g.135791811C>T | CA375493762 | KCNT1 | c.3517C>T (p.His1173Tyr) c.3421C>T (p.His1141Tyr) c.3265C>T (p.His1089Tyr) c.3328C>T (p.His1110Tyr) c.3337C>T (p.His1113Tyr) c.3481C>T (p.His1161Tyr) c.*3190C>T (n.*3190C>T) n.2823C>T c.3463C>T (p.His1155Tyr) c.3580C>T (p.His1194Tyr) c.3502C>T (p.His1168Tyr) c.3460C>T (p.His1154Tyr) c.3445C>T (p.His1149Tyr) c.3415C>T (p.His1139Tyr) c.3523C>T (p.His1175Tyr) c.3715C>T (p.His1239Tyr) c.3661C>T (p.His1221Tyr) c.3652C>T (p.His1218Tyr) c.3070C>T (p.His1024Tyr) c.3514C>T (p.His1172Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791812A>C | CA375493765 | KCNT1 | c.3518A>C (p.His1173Pro) c.3422A>C (p.His1141Pro) c.3266A>C (p.His1089Pro) c.3329A>C (p.His1110Pro) c.3338A>C (p.His1113Pro) c.3482A>C (p.His1161Pro) c.*3191A>C (n.*3191A>C) n.2824A>C c.3464A>C (p.His1155Pro) c.3581A>C (p.His1194Pro) c.3503A>C (p.His1168Pro) c.3461A>C (p.His1154Pro) c.3446A>C (p.His1149Pro) c.3416A>C (p.His1139Pro) c.3524A>C (p.His1175Pro) c.3716A>C (p.His1239Pro) c.3662A>C (p.His1221Pro) c.3653A>C (p.His1218Pro) c.3071A>C (p.His1024Pro) c.3515A>C (p.His1172Pro) | |
| 9 | g.135791812A>G | CA375493766 | KCNT1 | c.3518A>G (p.His1173Arg) c.3422A>G (p.His1141Arg) c.3266A>G (p.His1089Arg) c.3329A>G (p.His1110Arg) c.3338A>G (p.His1113Arg) c.3482A>G (p.His1161Arg) c.*3191A>G (n.*3191A>G) n.2824A>G c.3464A>G (p.His1155Arg) c.3581A>G (p.His1194Arg) c.3503A>G (p.His1168Arg) c.3461A>G (p.His1154Arg) c.3446A>G (p.His1149Arg) c.3416A>G (p.His1139Arg) c.3524A>G (p.His1175Arg) c.3716A>G (p.His1239Arg) c.3662A>G (p.His1221Arg) c.3653A>G (p.His1218Arg) c.3071A>G (p.His1024Arg) c.3515A>G (p.His1172Arg) | gnomAD v4 |
| 9 | g.135791812A>T | CA375493768 | KCNT1 | c.3518A>T (p.His1173Leu) c.3422A>T (p.His1141Leu) c.3266A>T (p.His1089Leu) c.3329A>T (p.His1110Leu) c.3338A>T (p.His1113Leu) c.3482A>T (p.His1161Leu) c.*3191A>T (n.*3191A>T) n.2824A>T c.3464A>T (p.His1155Leu) c.3581A>T (p.His1194Leu) c.3503A>T (p.His1168Leu) c.3461A>T (p.His1154Leu) c.3446A>T (p.His1149Leu) c.3416A>T (p.His1139Leu) c.3524A>T (p.His1175Leu) c.3716A>T (p.His1239Leu) c.3662A>T (p.His1221Leu) c.3653A>T (p.His1218Leu) c.3071A>T (p.His1024Leu) c.3515A>T (p.His1172Leu) | |
| 9 | g.135791813C>A | CA375493770 | KCNT1 | c.3519C>A (p.His1173Gln) c.3423C>A (p.His1141Gln) c.3267C>A (p.His1089Gln) c.3330C>A (p.His1110Gln) c.3339C>A (p.His1113Gln) c.3483C>A (p.His1161Gln) c.*3192C>A (n.*3192C>A) n.2825C>A c.3465C>A (p.His1155Gln) c.3582C>A (p.His1194Gln) c.3504C>A (p.His1168Gln) c.3462C>A (p.His1154Gln) c.3447C>A (p.His1149Gln) c.3417C>A (p.His1139Gln) c.3525C>A (p.His1175Gln) c.3717C>A (p.His1239Gln) c.3663C>A (p.His1221Gln) c.3654C>A (p.His1218Gln) c.3072C>A (p.His1024Gln) c.3516C>A (p.His1172Gln) | |
| 9 | g.135791813C= | CA1883892482 | KCNT1 | c.3519C= (p.His1173=) c.3423C= (p.His1141=) c.3267C= (p.His1089=) c.3330C= (p.His1110=) c.3339C= (p.His1113=) c.3483C= (p.His1161=) c.*3192C= (n.*3192C=) n.2825C= c.3465C= (p.His1155=) c.3582C= (p.His1194=) c.3504C= (p.His1168=) c.3462C= (p.His1154=) c.3447C= (p.His1149=) c.3417C= (p.His1139=) c.3525C= (p.His1175=) c.3717C= (p.His1239=) c.3663C= (p.His1221=) c.3654C= (p.His1218=) c.3072C= (p.His1024=) c.3516C= (p.His1172=) | |
| 9 | g.135791813C>G | CA375493772 | KCNT1 | c.3519C>G (p.His1173Gln) c.3423C>G (p.His1141Gln) c.3267C>G (p.His1089Gln) c.3330C>G (p.His1110Gln) c.3339C>G (p.His1113Gln) c.3483C>G (p.His1161Gln) c.*3192C>G (n.*3192C>G) n.2825C>G c.3465C>G (p.His1155Gln) c.3582C>G (p.His1194Gln) c.3504C>G (p.His1168Gln) c.3462C>G (p.His1154Gln) c.3447C>G (p.His1149Gln) c.3417C>G (p.His1139Gln) c.3525C>G (p.His1175Gln) c.3717C>G (p.His1239Gln) c.3663C>G (p.His1221Gln) c.3654C>G (p.His1218Gln) c.3072C>G (p.His1024Gln) c.3516C>G (p.His1172Gln) | gnomAD v4 |
| 9 | g.135791813C>T | CA467701096 | KCNT1 | c.3519C>T (p.His1173=) c.3423C>T (p.His1141=) c.3267C>T (p.His1089=) c.3330C>T (p.His1110=) c.3339C>T (p.His1113=) c.3483C>T (p.His1161=) c.*3192C>T (n.*3192C>T) n.2825C>T c.3465C>T (p.His1155=) c.3582C>T (p.His1194=) c.3504C>T (p.His1168=) c.3462C>T (p.His1154=) c.3447C>T (p.His1149=) c.3417C>T (p.His1139=) c.3525C>T (p.His1175=) c.3717C>T (p.His1239=) c.3663C>T (p.His1221=) c.3654C>T (p.His1218=) c.3072C>T (p.His1024=) c.3516C>T (p.His1172=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791814C>A | CA375493774 | KCNT1 | c.3520C>A (p.Gln1174Lys) c.3424C>A (p.Gln1142Lys) c.3268C>A (p.Gln1090Lys) c.3331C>A (p.Gln1111Lys) c.3340C>A (p.Gln1114Lys) c.3484C>A (p.Gln1162Lys) c.*3193C>A (n.*3193C>A) n.2826C>A c.3466C>A (p.Gln1156Lys) c.3583C>A (p.Gln1195Lys) c.3505C>A (p.Gln1169Lys) c.3463C>A (p.Gln1155Lys) c.3448C>A (p.Gln1150Lys) c.3418C>A (p.Gln1140Lys) c.3526C>A (p.Gln1176Lys) c.3718C>A (p.Gln1240Lys) c.3664C>A (p.Gln1222Lys) c.3655C>A (p.Gln1219Lys) c.3073C>A (p.Gln1025Lys) c.3517C>A (p.Gln1173Lys) | |
| 9 | g.135791814C= | CA1883892483 | KCNT1 | c.3520C= (p.Gln1174=) c.3424C= (p.Gln1142=) c.3268C= (p.Gln1090=) c.3331C= (p.Gln1111=) c.3340C= (p.Gln1114=) c.3484C= (p.Gln1162=) c.*3193C= (n.*3193C=) n.2826C= c.3466C= (p.Gln1156=) c.3583C= (p.Gln1195=) c.3505C= (p.Gln1169=) c.3463C= (p.Gln1155=) c.3448C= (p.Gln1150=) c.3418C= (p.Gln1140=) c.3526C= (p.Gln1176=) c.3718C= (p.Gln1240=) c.3664C= (p.Gln1222=) c.3655C= (p.Gln1219=) c.3073C= (p.Gln1025=) c.3517C= (p.Gln1173=) | |
| 9 | g.135791814C>G | CA375493776 | KCNT1 | c.3520C>G (p.Gln1174Glu) c.3424C>G (p.Gln1142Glu) c.3268C>G (p.Gln1090Glu) c.3331C>G (p.Gln1111Glu) c.3340C>G (p.Gln1114Glu) c.3484C>G (p.Gln1162Glu) c.*3193C>G (n.*3193C>G) n.2826C>G c.3466C>G (p.Gln1156Glu) c.3583C>G (p.Gln1195Glu) c.3505C>G (p.Gln1169Glu) c.3463C>G (p.Gln1155Glu) c.3448C>G (p.Gln1150Glu) c.3418C>G (p.Gln1140Glu) c.3526C>G (p.Gln1176Glu) c.3718C>G (p.Gln1240Glu) c.3664C>G (p.Gln1222Glu) c.3655C>G (p.Gln1219Glu) c.3073C>G (p.Gln1025Glu) c.3517C>G (p.Gln1173Glu) | |
| 9 | g.135791814C>T | CA5327934 | KCNT1 | c.3520C>T (p.Gln1174Ter) c.3424C>T (p.Gln1142Ter) c.3268C>T (p.Gln1090Ter) c.3331C>T (p.Gln1111Ter) c.3340C>T (p.Gln1114Ter) c.3484C>T (p.Gln1162Ter) c.*3193C>T (n.*3193C>T) n.2826C>T c.3466C>T (p.Gln1156Ter) c.3583C>T (p.Gln1195Ter) c.3505C>T (p.Gln1169Ter) c.3463C>T (p.Gln1155Ter) c.3448C>T (p.Gln1150Ter) c.3418C>T (p.Gln1140Ter) c.3526C>T (p.Gln1176Ter) c.3718C>T (p.Gln1240Ter) c.3664C>T (p.Gln1222Ter) c.3655C>T (p.Gln1219Ter) c.3073C>T (p.Gln1025Ter) c.3517C>T (p.Gln1173Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135791815A= | CA1883892484 | KCNT1 | c.3521A= (p.Gln1174=) c.3425A= (p.Gln1142=) c.3269A= (p.Gln1090=) c.3332A= (p.Gln1111=) c.3341A= (p.Gln1114=) c.3485A= (p.Gln1162=) c.*3194A= (n.*3194A=) n.2827A= c.3467A= (p.Gln1156=) c.3584A= (p.Gln1195=) c.3506A= (p.Gln1169=) c.3464A= (p.Gln1155=) c.3449A= (p.Gln1150=) c.3419A= (p.Gln1140=) c.3527A= (p.Gln1176=) c.3719A= (p.Gln1240=) c.3665A= (p.Gln1222=) c.3656A= (p.Gln1219=) c.3074A= (p.Gln1025=) c.3518A= (p.Gln1173=) | |
| 9 | g.135791815A>C | CA375493780 | KCNT1 | c.3521A>C (p.Gln1174Pro) c.3425A>C (p.Gln1142Pro) c.3269A>C (p.Gln1090Pro) c.3332A>C (p.Gln1111Pro) c.3341A>C (p.Gln1114Pro) c.3485A>C (p.Gln1162Pro) c.*3194A>C (n.*3194A>C) n.2827A>C c.3467A>C (p.Gln1156Pro) c.3584A>C (p.Gln1195Pro) c.3506A>C (p.Gln1169Pro) c.3464A>C (p.Gln1155Pro) c.3449A>C (p.Gln1150Pro) c.3419A>C (p.Gln1140Pro) c.3527A>C (p.Gln1176Pro) c.3719A>C (p.Gln1240Pro) c.3665A>C (p.Gln1222Pro) c.3656A>C (p.Gln1219Pro) c.3074A>C (p.Gln1025Pro) c.3518A>C (p.Gln1173Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791815A>G | CA5327935 | KCNT1 | c.3521A>G (p.Gln1174Arg) c.3425A>G (p.Gln1142Arg) c.3269A>G (p.Gln1090Arg) c.3332A>G (p.Gln1111Arg) c.3341A>G (p.Gln1114Arg) c.3485A>G (p.Gln1162Arg) c.*3194A>G (n.*3194A>G) n.2827A>G c.3467A>G (p.Gln1156Arg) c.3584A>G (p.Gln1195Arg) c.3506A>G (p.Gln1169Arg) c.3464A>G (p.Gln1155Arg) c.3449A>G (p.Gln1150Arg) c.3419A>G (p.Gln1140Arg) c.3527A>G (p.Gln1176Arg) c.3719A>G (p.Gln1240Arg) c.3665A>G (p.Gln1222Arg) c.3656A>G (p.Gln1219Arg) c.3074A>G (p.Gln1025Arg) c.3518A>G (p.Gln1173Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791815A>T | CA375493778 | KCNT1 | c.3521A>T (p.Gln1174Leu) c.3425A>T (p.Gln1142Leu) c.3269A>T (p.Gln1090Leu) c.3332A>T (p.Gln1111Leu) c.3341A>T (p.Gln1114Leu) c.3485A>T (p.Gln1162Leu) c.*3194A>T (n.*3194A>T) n.2827A>T c.3467A>T (p.Gln1156Leu) c.3584A>T (p.Gln1195Leu) c.3506A>T (p.Gln1169Leu) c.3464A>T (p.Gln1155Leu) c.3449A>T (p.Gln1150Leu) c.3419A>T (p.Gln1140Leu) c.3527A>T (p.Gln1176Leu) c.3719A>T (p.Gln1240Leu) c.3665A>T (p.Gln1222Leu) c.3656A>T (p.Gln1219Leu) c.3074A>T (p.Gln1025Leu) c.3518A>T (p.Gln1173Leu) | |
| 9 | g.135791816G>A | CA467701097 | KCNT1 | c.3522G>A (p.Gln1174=) c.3426G>A (p.Gln1142=) c.3270G>A (p.Gln1090=) c.3333G>A (p.Gln1111=) c.3342G>A (p.Gln1114=) c.3486G>A (p.Gln1162=) c.*3195G>A (n.*3195G>A) n.2828G>A c.3468G>A (p.Gln1156=) c.3585G>A (p.Gln1195=) c.3507G>A (p.Gln1169=) c.3465G>A (p.Gln1155=) c.3450G>A (p.Gln1150=) c.3420G>A (p.Gln1140=) c.3528G>A (p.Gln1176=) c.3720G>A (p.Gln1240=) c.3666G>A (p.Gln1222=) c.3657G>A (p.Gln1219=) c.3075G>A (p.Gln1025=) c.3519G>A (p.Gln1173=) | |
| 9 | g.135791816G>C | CA375493785 | KCNT1 | c.3522G>C (p.Gln1174His) c.3426G>C (p.Gln1142His) c.3270G>C (p.Gln1090His) c.3333G>C (p.Gln1111His) c.3342G>C (p.Gln1114His) c.3486G>C (p.Gln1162His) c.*3195G>C (n.*3195G>C) n.2828G>C c.3468G>C (p.Gln1156His) c.3585G>C (p.Gln1195His) c.3507G>C (p.Gln1169His) c.3465G>C (p.Gln1155His) c.3450G>C (p.Gln1150His) c.3420G>C (p.Gln1140His) c.3528G>C (p.Gln1176His) c.3720G>C (p.Gln1240His) c.3666G>C (p.Gln1222His) c.3657G>C (p.Gln1219His) c.3075G>C (p.Gln1025His) c.3519G>C (p.Gln1173His) | |
| 9 | g.135791816G>T | CA375493783 | KCNT1 | c.3522G>T (p.Gln1174His) c.3426G>T (p.Gln1142His) c.3270G>T (p.Gln1090His) c.3333G>T (p.Gln1111His) c.3342G>T (p.Gln1114His) c.3486G>T (p.Gln1162His) c.*3195G>T (n.*3195G>T) n.2828G>T c.3468G>T (p.Gln1156His) c.3585G>T (p.Gln1195His) c.3507G>T (p.Gln1169His) c.3465G>T (p.Gln1155His) c.3450G>T (p.Gln1150His) c.3420G>T (p.Gln1140His) c.3528G>T (p.Gln1176His) c.3720G>T (p.Gln1240His) c.3666G>T (p.Gln1222His) c.3657G>T (p.Gln1219His) c.3075G>T (p.Gln1025His) c.3519G>T (p.Gln1173His) | |
| 9 | g.135791817A>C | CA375493788 | KCNT1 | c.3523A>C (p.Asn1175His) c.3427A>C (p.Asn1143His) c.3271A>C (p.Asn1091His) c.3334A>C (p.Asn1112His) c.3343A>C (p.Asn1115His) c.3487A>C (p.Asn1163His) c.*3196A>C (n.*3196A>C) n.2829A>C c.3469A>C (p.Asn1157His) c.3586A>C (p.Asn1196His) c.3508A>C (p.Asn1170His) c.3466A>C (p.Asn1156His) c.3451A>C (p.Asn1151His) c.3421A>C (p.Asn1141His) c.3529A>C (p.Asn1177His) c.3721A>C (p.Asn1241His) c.3667A>C (p.Asn1223His) c.3658A>C (p.Asn1220His) c.3076A>C (p.Asn1026His) c.3520A>C (p.Asn1174His) | |
| 9 | g.135791817A>G | CA375493789 | KCNT1 | c.3523A>G (p.Asn1175Asp) c.3427A>G (p.Asn1143Asp) c.3271A>G (p.Asn1091Asp) c.3334A>G (p.Asn1112Asp) c.3343A>G (p.Asn1115Asp) c.3487A>G (p.Asn1163Asp) c.*3196A>G (n.*3196A>G) n.2829A>G c.3469A>G (p.Asn1157Asp) c.3586A>G (p.Asn1196Asp) c.3508A>G (p.Asn1170Asp) c.3466A>G (p.Asn1156Asp) c.3451A>G (p.Asn1151Asp) c.3421A>G (p.Asn1141Asp) c.3529A>G (p.Asn1177Asp) c.3721A>G (p.Asn1241Asp) c.3667A>G (p.Asn1223Asp) c.3658A>G (p.Asn1220Asp) c.3076A>G (p.Asn1026Asp) c.3520A>G (p.Asn1174Asp) | |
| 9 | g.135791817A>T | CA375493791 | KCNT1 | c.3523A>T (p.Asn1175Tyr) c.3427A>T (p.Asn1143Tyr) c.3271A>T (p.Asn1091Tyr) c.3334A>T (p.Asn1112Tyr) c.3343A>T (p.Asn1115Tyr) c.3487A>T (p.Asn1163Tyr) c.*3196A>T (n.*3196A>T) n.2829A>T c.3469A>T (p.Asn1157Tyr) c.3586A>T (p.Asn1196Tyr) c.3508A>T (p.Asn1170Tyr) c.3466A>T (p.Asn1156Tyr) c.3451A>T (p.Asn1151Tyr) c.3421A>T (p.Asn1141Tyr) c.3529A>T (p.Asn1177Tyr) c.3721A>T (p.Asn1241Tyr) c.3667A>T (p.Asn1223Tyr) c.3658A>T (p.Asn1220Tyr) c.3076A>T (p.Asn1026Tyr) c.3520A>T (p.Asn1174Tyr) | |
| 9 | g.135791818A>C | CA375493794 | KCNT1 | c.3524A>C (p.Asn1175Thr) c.3428A>C (p.Asn1143Thr) c.3272A>C (p.Asn1091Thr) c.3335A>C (p.Asn1112Thr) c.3344A>C (p.Asn1115Thr) c.3488A>C (p.Asn1163Thr) c.*3197A>C (n.*3197A>C) n.2830A>C c.3470A>C (p.Asn1157Thr) c.3587A>C (p.Asn1196Thr) c.3509A>C (p.Asn1170Thr) c.3467A>C (p.Asn1156Thr) c.3452A>C (p.Asn1151Thr) c.3422A>C (p.Asn1141Thr) c.3530A>C (p.Asn1177Thr) c.3722A>C (p.Asn1241Thr) c.3668A>C (p.Asn1223Thr) c.3659A>C (p.Asn1220Thr) c.3077A>C (p.Asn1026Thr) c.3521A>C (p.Asn1174Thr) | |
| 9 | g.135791818A>G | CA375493795 | KCNT1 | c.3524A>G (p.Asn1175Ser) c.3428A>G (p.Asn1143Ser) c.3272A>G (p.Asn1091Ser) c.3335A>G (p.Asn1112Ser) c.3344A>G (p.Asn1115Ser) c.3488A>G (p.Asn1163Ser) c.*3197A>G (n.*3197A>G) n.2830A>G c.3470A>G (p.Asn1157Ser) c.3587A>G (p.Asn1196Ser) c.3509A>G (p.Asn1170Ser) c.3467A>G (p.Asn1156Ser) c.3452A>G (p.Asn1151Ser) c.3422A>G (p.Asn1141Ser) c.3530A>G (p.Asn1177Ser) c.3722A>G (p.Asn1241Ser) c.3668A>G (p.Asn1223Ser) c.3659A>G (p.Asn1220Ser) c.3077A>G (p.Asn1026Ser) c.3521A>G (p.Asn1174Ser) | gnomAD v4 |
| 9 | g.135791818A>T | CA375493797 | KCNT1 | c.3524A>T (p.Asn1175Ile) c.3428A>T (p.Asn1143Ile) c.3272A>T (p.Asn1091Ile) c.3335A>T (p.Asn1112Ile) c.3344A>T (p.Asn1115Ile) c.3488A>T (p.Asn1163Ile) c.*3197A>T (n.*3197A>T) n.2830A>T c.3470A>T (p.Asn1157Ile) c.3587A>T (p.Asn1196Ile) c.3509A>T (p.Asn1170Ile) c.3467A>T (p.Asn1156Ile) c.3452A>T (p.Asn1151Ile) c.3422A>T (p.Asn1141Ile) c.3530A>T (p.Asn1177Ile) c.3722A>T (p.Asn1241Ile) c.3668A>T (p.Asn1223Ile) c.3659A>T (p.Asn1220Ile) c.3077A>T (p.Asn1026Ile) c.3521A>T (p.Asn1174Ile) | |
| 9 | g.135791819C>A | CA375493799 | KCNT1 | c.3525C>A (p.Asn1175Lys) c.3429C>A (p.Asn1143Lys) c.3273C>A (p.Asn1091Lys) c.3336C>A (p.Asn1112Lys) c.3345C>A (p.Asn1115Lys) c.3489C>A (p.Asn1163Lys) c.*3198C>A (n.*3198C>A) n.2831C>A c.3471C>A (p.Asn1157Lys) c.3588C>A (p.Asn1196Lys) c.3510C>A (p.Asn1170Lys) c.3468C>A (p.Asn1156Lys) c.3453C>A (p.Asn1151Lys) c.3423C>A (p.Asn1141Lys) c.3531C>A (p.Asn1177Lys) c.3723C>A (p.Asn1241Lys) c.3669C>A (p.Asn1223Lys) c.3660C>A (p.Asn1220Lys) c.3078C>A (p.Asn1026Lys) c.3522C>A (p.Asn1174Lys) | |
| 9 | g.135791819C= | CA1883892485 | KCNT1 | c.3525C= (p.Asn1175=) c.3429C= (p.Asn1143=) c.3273C= (p.Asn1091=) c.3336C= (p.Asn1112=) c.3345C= (p.Asn1115=) c.3489C= (p.Asn1163=) c.*3198C= (n.*3198C=) n.2831C= c.3471C= (p.Asn1157=) c.3588C= (p.Asn1196=) c.3510C= (p.Asn1170=) c.3468C= (p.Asn1156=) c.3453C= (p.Asn1151=) c.3423C= (p.Asn1141=) c.3531C= (p.Asn1177=) c.3723C= (p.Asn1241=) c.3669C= (p.Asn1223=) c.3660C= (p.Asn1220=) c.3078C= (p.Asn1026=) c.3522C= (p.Asn1174=) | |
| 9 | g.135791819C>G | CA201431374 | KCNT1 | c.3525C>G (p.Asn1175Lys) c.3429C>G (p.Asn1143Lys) c.3273C>G (p.Asn1091Lys) c.3336C>G (p.Asn1112Lys) c.3345C>G (p.Asn1115Lys) c.3489C>G (p.Asn1163Lys) c.*3198C>G (n.*3198C>G) n.2831C>G c.3471C>G (p.Asn1157Lys) c.3588C>G (p.Asn1196Lys) c.3510C>G (p.Asn1170Lys) c.3468C>G (p.Asn1156Lys) c.3453C>G (p.Asn1151Lys) c.3423C>G (p.Asn1141Lys) c.3531C>G (p.Asn1177Lys) c.3723C>G (p.Asn1241Lys) c.3669C>G (p.Asn1223Lys) c.3660C>G (p.Asn1220Lys) c.3078C>G (p.Asn1026Lys) c.3522C>G (p.Asn1174Lys) | ClinVar dbSNP |
| 9 | g.135791819C>T | CA467701106 | KCNT1 | c.3525C>T (p.Asn1175=) c.3429C>T (p.Asn1143=) c.3273C>T (p.Asn1091=) c.3336C>T (p.Asn1112=) c.3345C>T (p.Asn1115=) c.3489C>T (p.Asn1163=) c.*3198C>T (n.*3198C>T) n.2831C>T c.3471C>T (p.Asn1157=) c.3588C>T (p.Asn1196=) c.3510C>T (p.Asn1170=) c.3468C>T (p.Asn1156=) c.3453C>T (p.Asn1151=) c.3423C>T (p.Asn1141=) c.3531C>T (p.Asn1177=) c.3723C>T (p.Asn1241=) c.3669C>T (p.Asn1223=) c.3660C>T (p.Asn1220=) c.3078C>T (p.Asn1026=) c.3522C>T (p.Asn1174=) | dbSNP |
| 9 | g.135791820A= | CA1883892486 | KCNT1 | c.3526A= (p.Thr1176=) c.3430A= (p.Thr1144=) c.3274A= (p.Thr1092=) c.3337A= (p.Thr1113=) c.3346A= (p.Thr1116=) c.3490A= (p.Thr1164=) c.*3199A= (n.*3199A=) n.2832A= c.3472A= (p.Thr1158=) c.3589A= (p.Thr1197=) c.3511A= (p.Thr1171=) c.3469A= (p.Thr1157=) c.3454A= (p.Thr1152=) c.3424A= (p.Thr1142=) c.3532A= (p.Thr1178=) c.3724A= (p.Thr1242=) c.3670A= (p.Thr1224=) c.3661A= (p.Thr1221=) c.3079A= (p.Thr1027=) c.3523A= (p.Thr1175=) | |
| 9 | g.135791820A>C | CA201431376 | KCNT1 | c.3526A>C (p.Thr1176Pro) c.3430A>C (p.Thr1144Pro) c.3274A>C (p.Thr1092Pro) c.3337A>C (p.Thr1113Pro) c.3346A>C (p.Thr1116Pro) c.3490A>C (p.Thr1164Pro) c.*3199A>C (n.*3199A>C) n.2832A>C c.3472A>C (p.Thr1158Pro) c.3589A>C (p.Thr1197Pro) c.3511A>C (p.Thr1171Pro) c.3469A>C (p.Thr1157Pro) c.3454A>C (p.Thr1152Pro) c.3424A>C (p.Thr1142Pro) c.3532A>C (p.Thr1178Pro) c.3724A>C (p.Thr1242Pro) c.3670A>C (p.Thr1224Pro) c.3661A>C (p.Thr1221Pro) c.3079A>C (p.Thr1027Pro) c.3523A>C (p.Thr1175Pro) | dbSNP gnomAD v4 |
| 9 | g.135791820A>G | CA375493803 | KCNT1 | c.3526A>G (p.Thr1176Ala) c.3430A>G (p.Thr1144Ala) c.3274A>G (p.Thr1092Ala) c.3337A>G (p.Thr1113Ala) c.3346A>G (p.Thr1116Ala) c.3490A>G (p.Thr1164Ala) c.*3199A>G (n.*3199A>G) n.2832A>G c.3472A>G (p.Thr1158Ala) c.3589A>G (p.Thr1197Ala) c.3511A>G (p.Thr1171Ala) c.3469A>G (p.Thr1157Ala) c.3454A>G (p.Thr1152Ala) c.3424A>G (p.Thr1142Ala) c.3532A>G (p.Thr1178Ala) c.3724A>G (p.Thr1242Ala) c.3670A>G (p.Thr1224Ala) c.3661A>G (p.Thr1221Ala) c.3079A>G (p.Thr1027Ala) c.3523A>G (p.Thr1175Ala) | ClinVar dbSNP |
| 9 | g.135791820A>T | CA375493805 | KCNT1 | c.3526A>T (p.Thr1176Ser) c.3430A>T (p.Thr1144Ser) c.3274A>T (p.Thr1092Ser) c.3337A>T (p.Thr1113Ser) c.3346A>T (p.Thr1116Ser) c.3490A>T (p.Thr1164Ser) c.*3199A>T (n.*3199A>T) n.2832A>T c.3472A>T (p.Thr1158Ser) c.3589A>T (p.Thr1197Ser) c.3511A>T (p.Thr1171Ser) c.3469A>T (p.Thr1157Ser) c.3454A>T (p.Thr1152Ser) c.3424A>T (p.Thr1142Ser) c.3532A>T (p.Thr1178Ser) c.3724A>T (p.Thr1242Ser) c.3670A>T (p.Thr1224Ser) c.3661A>T (p.Thr1221Ser) c.3079A>T (p.Thr1027Ser) c.3523A>T (p.Thr1175Ser) | |
| 9 | g.135791821C>A | CA375493812 | KCNT1 | c.3527C>A (p.Thr1176Asn) c.3431C>A (p.Thr1144Asn) c.3275C>A (p.Thr1092Asn) c.3338C>A (p.Thr1113Asn) c.3347C>A (p.Thr1116Asn) c.3491C>A (p.Thr1164Asn) c.*3200C>A (n.*3200C>A) n.2833C>A c.3473C>A (p.Thr1158Asn) c.3590C>A (p.Thr1197Asn) c.3512C>A (p.Thr1171Asn) c.3470C>A (p.Thr1157Asn) c.3455C>A (p.Thr1152Asn) c.3425C>A (p.Thr1142Asn) c.3533C>A (p.Thr1178Asn) c.3725C>A (p.Thr1242Asn) c.3671C>A (p.Thr1224Asn) c.3662C>A (p.Thr1221Asn) c.3080C>A (p.Thr1027Asn) c.3524C>A (p.Thr1175Asn) | |
| 9 | g.135791821C>G | CA375493809 | KCNT1 | c.3527C>G (p.Thr1176Ser) c.3431C>G (p.Thr1144Ser) c.3275C>G (p.Thr1092Ser) c.3338C>G (p.Thr1113Ser) c.3347C>G (p.Thr1116Ser) c.3491C>G (p.Thr1164Ser) c.*3200C>G (n.*3200C>G) n.2833C>G c.3473C>G (p.Thr1158Ser) c.3590C>G (p.Thr1197Ser) c.3512C>G (p.Thr1171Ser) c.3470C>G (p.Thr1157Ser) c.3455C>G (p.Thr1152Ser) c.3425C>G (p.Thr1142Ser) c.3533C>G (p.Thr1178Ser) c.3725C>G (p.Thr1242Ser) c.3671C>G (p.Thr1224Ser) c.3662C>G (p.Thr1221Ser) c.3080C>G (p.Thr1027Ser) c.3524C>G (p.Thr1175Ser) | |
| 9 | g.135791821C>T | CA375493807 | KCNT1 | c.3527C>T (p.Thr1176Ile) c.3431C>T (p.Thr1144Ile) c.3275C>T (p.Thr1092Ile) c.3338C>T (p.Thr1113Ile) c.3347C>T (p.Thr1116Ile) c.3491C>T (p.Thr1164Ile) c.*3200C>T (n.*3200C>T) n.2833C>T c.3473C>T (p.Thr1158Ile) c.3590C>T (p.Thr1197Ile) c.3512C>T (p.Thr1171Ile) c.3470C>T (p.Thr1157Ile) c.3455C>T (p.Thr1152Ile) c.3425C>T (p.Thr1142Ile) c.3533C>T (p.Thr1178Ile) c.3725C>T (p.Thr1242Ile) c.3671C>T (p.Thr1224Ile) c.3662C>T (p.Thr1221Ile) c.3080C>T (p.Thr1027Ile) c.3524C>T (p.Thr1175Ile) | |
| 9 | g.135791822C>A | CA467701113 | KCNT1 | c.3528C>A (p.Thr1176=) c.3432C>A (p.Thr1144=) c.3276C>A (p.Thr1092=) c.3339C>A (p.Thr1113=) c.3348C>A (p.Thr1116=) c.3492C>A (p.Thr1164=) c.*3201C>A (n.*3201C>A) n.2834C>A c.3474C>A (p.Thr1158=) c.3591C>A (p.Thr1197=) c.3513C>A (p.Thr1171=) c.3471C>A (p.Thr1157=) c.3456C>A (p.Thr1152=) c.3426C>A (p.Thr1142=) c.3534C>A (p.Thr1178=) c.3726C>A (p.Thr1242=) c.3672C>A (p.Thr1224=) c.3663C>A (p.Thr1221=) c.3081C>A (p.Thr1027=) c.3525C>A (p.Thr1175=) | |
| 9 | g.135791822C= | CA1883892487 | KCNT1 | c.3528C= (p.Thr1176=) c.3432C= (p.Thr1144=) c.3276C= (p.Thr1092=) c.3339C= (p.Thr1113=) c.3348C= (p.Thr1116=) c.3492C= (p.Thr1164=) c.*3201C= (n.*3201C=) n.2834C= c.3474C= (p.Thr1158=) c.3591C= (p.Thr1197=) c.3513C= (p.Thr1171=) c.3471C= (p.Thr1157=) c.3456C= (p.Thr1152=) c.3426C= (p.Thr1142=) c.3534C= (p.Thr1178=) c.3726C= (p.Thr1242=) c.3672C= (p.Thr1224=) c.3663C= (p.Thr1221=) c.3081C= (p.Thr1027=) c.3525C= (p.Thr1175=) | |
| 9 | g.135791822C>G | CA467701116 | KCNT1 | c.3528C>G (p.Thr1176=) c.3432C>G (p.Thr1144=) c.3276C>G (p.Thr1092=) c.3339C>G (p.Thr1113=) c.3348C>G (p.Thr1116=) c.3492C>G (p.Thr1164=) c.*3201C>G (n.*3201C>G) n.2834C>G c.3474C>G (p.Thr1158=) c.3591C>G (p.Thr1197=) c.3513C>G (p.Thr1171=) c.3471C>G (p.Thr1157=) c.3456C>G (p.Thr1152=) c.3426C>G (p.Thr1142=) c.3534C>G (p.Thr1178=) c.3726C>G (p.Thr1242=) c.3672C>G (p.Thr1224=) c.3663C>G (p.Thr1221=) c.3081C>G (p.Thr1027=) c.3525C>G (p.Thr1175=) | |
| 9 | g.135791822C>T | CA467701114 | KCNT1 | c.3528C>T (p.Thr1176=) c.3432C>T (p.Thr1144=) c.3276C>T (p.Thr1092=) c.3339C>T (p.Thr1113=) c.3348C>T (p.Thr1116=) c.3492C>T (p.Thr1164=) c.*3201C>T (n.*3201C>T) n.2834C>T c.3474C>T (p.Thr1158=) c.3591C>T (p.Thr1197=) c.3513C>T (p.Thr1171=) c.3471C>T (p.Thr1157=) c.3456C>T (p.Thr1152=) c.3426C>T (p.Thr1142=) c.3534C>T (p.Thr1178=) c.3726C>T (p.Thr1242=) c.3672C>T (p.Thr1224=) c.3663C>T (p.Thr1221=) c.3081C>T (p.Thr1027=) c.3525C>T (p.Thr1175=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.135791823C>A | CA375493814 | KCNT1 | c.3529C>A (p.Leu1177Ile) c.3433C>A (p.Leu1145Ile) c.3277C>A (p.Leu1093Ile) c.3340C>A (p.Leu1114Ile) c.3349C>A (p.Leu1117Ile) c.3493C>A (p.Leu1165Ile) c.*3202C>A (n.*3202C>A) n.2835C>A c.3475C>A (p.Leu1159Ile) c.3592C>A (p.Leu1198Ile) c.3514C>A (p.Leu1172Ile) c.3472C>A (p.Leu1158Ile) c.3457C>A (p.Leu1153Ile) c.3427C>A (p.Leu1143Ile) c.3535C>A (p.Leu1179Ile) c.3727C>A (p.Leu1243Ile) c.3673C>A (p.Leu1225Ile) c.3664C>A (p.Leu1222Ile) c.3082C>A (p.Leu1028Ile) c.3526C>A (p.Leu1176Ile) | |
| 9 | g.135791823C= | CA1883892488 | KCNT1 | c.3529C= (p.Leu1177=) c.3433C= (p.Leu1145=) c.3277C= (p.Leu1093=) c.3340C= (p.Leu1114=) c.3349C= (p.Leu1117=) c.3493C= (p.Leu1165=) c.*3202C= (n.*3202C=) n.2835C= c.3475C= (p.Leu1159=) c.3592C= (p.Leu1198=) c.3514C= (p.Leu1172=) c.3472C= (p.Leu1158=) c.3457C= (p.Leu1153=) c.3427C= (p.Leu1143=) c.3535C= (p.Leu1179=) c.3727C= (p.Leu1243=) c.3673C= (p.Leu1225=) c.3664C= (p.Leu1222=) c.3082C= (p.Leu1028=) c.3526C= (p.Leu1176=) | |
| 9 | g.135791823C>G | CA375493820 | KCNT1 | c.3529C>G (p.Leu1177Val) c.3433C>G (p.Leu1145Val) c.3277C>G (p.Leu1093Val) c.3340C>G (p.Leu1114Val) c.3349C>G (p.Leu1117Val) c.3493C>G (p.Leu1165Val) c.*3202C>G (n.*3202C>G) n.2835C>G c.3475C>G (p.Leu1159Val) c.3592C>G (p.Leu1198Val) c.3514C>G (p.Leu1172Val) c.3472C>G (p.Leu1158Val) c.3457C>G (p.Leu1153Val) c.3427C>G (p.Leu1143Val) c.3535C>G (p.Leu1179Val) c.3727C>G (p.Leu1243Val) c.3673C>G (p.Leu1225Val) c.3664C>G (p.Leu1222Val) c.3082C>G (p.Leu1028Val) c.3526C>G (p.Leu1176Val) | ClinVar dbSNP |
| 9 | g.135791823C>T | CA375493821 | KCNT1 | c.3529C>T (p.Leu1177Phe) c.3433C>T (p.Leu1145Phe) c.3277C>T (p.Leu1093Phe) c.3340C>T (p.Leu1114Phe) c.3349C>T (p.Leu1117Phe) c.3493C>T (p.Leu1165Phe) c.*3202C>T (n.*3202C>T) n.2835C>T c.3475C>T (p.Leu1159Phe) c.3592C>T (p.Leu1198Phe) c.3514C>T (p.Leu1172Phe) c.3472C>T (p.Leu1158Phe) c.3457C>T (p.Leu1153Phe) c.3427C>T (p.Leu1143Phe) c.3535C>T (p.Leu1179Phe) c.3727C>T (p.Leu1243Phe) c.3673C>T (p.Leu1225Phe) c.3664C>T (p.Leu1222Phe) c.3082C>T (p.Leu1028Phe) c.3526C>T (p.Leu1176Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791824del | CA2692524898 | KCNT1 | c.3530del (p.Leu1177ProfsTer?) c.3434del (p.Leu1145ProfsTer?) c.3278del (p.Leu1093ProfsTer?) c.3341del (p.Leu1114ProfsTer?) c.3350del (p.Leu1117ProfsTer?) c.3494del (p.Leu1165ProfsTer?) c.*3203del (n.*3203del) n.2836del c.3476del (p.Leu1159ProfsTer?) c.3593del (p.Leu1198ProfsTer?) c.3515del (p.Leu1172ProfsTer?) c.3473del (p.Leu1158ProfsTer?) c.3458del (p.Leu1153ProfsTer?) c.3428del (p.Leu1143ProfsTer?) c.3536del (p.Leu1179ProfsTer?) c.3728del (p.Leu1243ProfsTer?) c.3674del (p.Leu1225ProfsTer?) c.3665del (p.Leu1222ProfsTer?) c.3083del (p.Leu1028ProfsTer?) c.3527del (p.Leu1176ProfsTer?) | gnomAD v4 |
| 9 | g.135791824T>A | CA375493827 | KCNT1 | c.3530T>A (p.Leu1177His) c.3434T>A (p.Leu1145His) c.3278T>A (p.Leu1093His) c.3341T>A (p.Leu1114His) c.3350T>A (p.Leu1117His) c.3494T>A (p.Leu1165His) c.*3203T>A (n.*3203T>A) n.2836T>A c.3476T>A (p.Leu1159His) c.3593T>A (p.Leu1198His) c.3515T>A (p.Leu1172His) c.3473T>A (p.Leu1158His) c.3458T>A (p.Leu1153His) c.3428T>A (p.Leu1143His) c.3536T>A (p.Leu1179His) c.3728T>A (p.Leu1243His) c.3674T>A (p.Leu1225His) c.3665T>A (p.Leu1222His) c.3083T>A (p.Leu1028His) c.3527T>A (p.Leu1176His) | |
| 9 | g.135791824T>C | CA375493829 | KCNT1 | c.3530T>C (p.Leu1177Pro) c.3434T>C (p.Leu1145Pro) c.3278T>C (p.Leu1093Pro) c.3341T>C (p.Leu1114Pro) c.3350T>C (p.Leu1117Pro) c.3494T>C (p.Leu1165Pro) c.*3203T>C (n.*3203T>C) n.2836T>C c.3476T>C (p.Leu1159Pro) c.3593T>C (p.Leu1198Pro) c.3515T>C (p.Leu1172Pro) c.3473T>C (p.Leu1158Pro) c.3458T>C (p.Leu1153Pro) c.3428T>C (p.Leu1143Pro) c.3536T>C (p.Leu1179Pro) c.3728T>C (p.Leu1243Pro) c.3674T>C (p.Leu1225Pro) c.3665T>C (p.Leu1222Pro) c.3083T>C (p.Leu1028Pro) c.3527T>C (p.Leu1176Pro) | |
| 9 | g.135791824T>G | CA375493831 | KCNT1 | c.3530T>G (p.Leu1177Arg) c.3434T>G (p.Leu1145Arg) c.3278T>G (p.Leu1093Arg) c.3341T>G (p.Leu1114Arg) c.3350T>G (p.Leu1117Arg) c.3494T>G (p.Leu1165Arg) c.*3203T>G (n.*3203T>G) n.2836T>G c.3476T>G (p.Leu1159Arg) c.3593T>G (p.Leu1198Arg) c.3515T>G (p.Leu1172Arg) c.3473T>G (p.Leu1158Arg) c.3458T>G (p.Leu1153Arg) c.3428T>G (p.Leu1143Arg) c.3536T>G (p.Leu1179Arg) c.3728T>G (p.Leu1243Arg) c.3674T>G (p.Leu1225Arg) c.3665T>G (p.Leu1222Arg) c.3083T>G (p.Leu1028Arg) c.3527T>G (p.Leu1176Arg) | |
| 9 | g.135791825C>A | CA467701123 | KCNT1 | c.3531C>A (p.Leu1177=) c.3435C>A (p.Leu1145=) c.3279C>A (p.Leu1093=) c.3342C>A (p.Leu1114=) c.3351C>A (p.Leu1117=) c.3495C>A (p.Leu1165=) c.*3204C>A (n.*3204C>A) n.2837C>A c.3477C>A (p.Leu1159=) c.3594C>A (p.Leu1198=) c.3516C>A (p.Leu1172=) c.3474C>A (p.Leu1158=) c.3459C>A (p.Leu1153=) c.3429C>A (p.Leu1143=) c.3537C>A (p.Leu1179=) c.3729C>A (p.Leu1243=) c.3675C>A (p.Leu1225=) c.3666C>A (p.Leu1222=) c.3084C>A (p.Leu1028=) c.3528C>A (p.Leu1176=) | |
| 9 | g.135791825C>G | CA467701125 | KCNT1 | c.3531C>G (p.Leu1177=) c.3435C>G (p.Leu1145=) c.3279C>G (p.Leu1093=) c.3342C>G (p.Leu1114=) c.3351C>G (p.Leu1117=) c.3495C>G (p.Leu1165=) c.*3204C>G (n.*3204C>G) n.2837C>G c.3477C>G (p.Leu1159=) c.3594C>G (p.Leu1198=) c.3516C>G (p.Leu1172=) c.3474C>G (p.Leu1158=) c.3459C>G (p.Leu1153=) c.3429C>G (p.Leu1143=) c.3537C>G (p.Leu1179=) c.3729C>G (p.Leu1243=) c.3675C>G (p.Leu1225=) c.3666C>G (p.Leu1222=) c.3084C>G (p.Leu1028=) c.3528C>G (p.Leu1176=) | |
| 9 | g.135791825C>T | CA467701127 | KCNT1 | c.3531C>T (p.Leu1177=) c.3435C>T (p.Leu1145=) c.3279C>T (p.Leu1093=) c.3342C>T (p.Leu1114=) c.3351C>T (p.Leu1117=) c.3495C>T (p.Leu1165=) c.*3204C>T (n.*3204C>T) n.2837C>T c.3477C>T (p.Leu1159=) c.3594C>T (p.Leu1198=) c.3516C>T (p.Leu1172=) c.3474C>T (p.Leu1158=) c.3459C>T (p.Leu1153=) c.3429C>T (p.Leu1143=) c.3537C>T (p.Leu1179=) c.3729C>T (p.Leu1243=) c.3675C>T (p.Leu1225=) c.3666C>T (p.Leu1222=) c.3084C>T (p.Leu1028=) c.3528C>T (p.Leu1176=) | gnomAD v4 |
| 9 | g.135791826T>A | CA375493833 | KCNT1 | c.3532T>A (p.Ser1178Thr) c.3436T>A (p.Ser1146Thr) c.3280T>A (p.Ser1094Thr) c.3343T>A (p.Ser1115Thr) c.3352T>A (p.Ser1118Thr) c.3496T>A (p.Ser1166Thr) c.*3205T>A (n.*3205T>A) n.2838T>A c.3478T>A (p.Ser1160Thr) c.3595T>A (p.Ser1199Thr) c.3517T>A (p.Ser1173Thr) c.3475T>A (p.Ser1159Thr) c.3460T>A (p.Ser1154Thr) c.3430T>A (p.Ser1144Thr) c.3538T>A (p.Ser1180Thr) c.3730T>A (p.Ser1244Thr) c.3676T>A (p.Ser1226Thr) c.3667T>A (p.Ser1223Thr) c.3085T>A (p.Ser1029Thr) c.3529T>A (p.Ser1177Thr) | |
| 9 | g.135791826T>C | CA375493835 | KCNT1 | c.3532T>C (p.Ser1178Pro) c.3436T>C (p.Ser1146Pro) c.3280T>C (p.Ser1094Pro) c.3343T>C (p.Ser1115Pro) c.3352T>C (p.Ser1118Pro) c.3496T>C (p.Ser1166Pro) c.*3205T>C (n.*3205T>C) n.2838T>C c.3478T>C (p.Ser1160Pro) c.3595T>C (p.Ser1199Pro) c.3517T>C (p.Ser1173Pro) c.3475T>C (p.Ser1159Pro) c.3460T>C (p.Ser1154Pro) c.3430T>C (p.Ser1144Pro) c.3538T>C (p.Ser1180Pro) c.3730T>C (p.Ser1244Pro) c.3676T>C (p.Ser1226Pro) c.3667T>C (p.Ser1223Pro) c.3085T>C (p.Ser1029Pro) c.3529T>C (p.Ser1177Pro) | |
| 9 | g.135791826T>G | CA375493837 | KCNT1 | c.3532T>G (p.Ser1178Ala) c.3436T>G (p.Ser1146Ala) c.3280T>G (p.Ser1094Ala) c.3343T>G (p.Ser1115Ala) c.3352T>G (p.Ser1118Ala) c.3496T>G (p.Ser1166Ala) c.*3205T>G (n.*3205T>G) n.2838T>G c.3478T>G (p.Ser1160Ala) c.3595T>G (p.Ser1199Ala) c.3517T>G (p.Ser1173Ala) c.3475T>G (p.Ser1159Ala) c.3460T>G (p.Ser1154Ala) c.3430T>G (p.Ser1144Ala) c.3538T>G (p.Ser1180Ala) c.3730T>G (p.Ser1244Ala) c.3676T>G (p.Ser1226Ala) c.3667T>G (p.Ser1223Ala) c.3085T>G (p.Ser1029Ala) c.3529T>G (p.Ser1177Ala) | |
| 9 | g.135791827C>A | CA375493839 | KCNT1 | c.3533C>A (p.Ser1178Tyr) c.3437C>A (p.Ser1146Tyr) c.3281C>A (p.Ser1094Tyr) c.3344C>A (p.Ser1115Tyr) c.3353C>A (p.Ser1118Tyr) c.3497C>A (p.Ser1166Tyr) c.*3206C>A (n.*3206C>A) n.2839C>A c.3479C>A (p.Ser1160Tyr) c.3596C>A (p.Ser1199Tyr) c.3518C>A (p.Ser1173Tyr) c.3476C>A (p.Ser1159Tyr) c.3461C>A (p.Ser1154Tyr) c.3431C>A (p.Ser1144Tyr) c.3539C>A (p.Ser1180Tyr) c.3731C>A (p.Ser1244Tyr) c.3677C>A (p.Ser1226Tyr) c.3668C>A (p.Ser1223Tyr) c.3086C>A (p.Ser1029Tyr) c.3530C>A (p.Ser1177Tyr) | |
| 9 | g.135791827C>G | CA375493840 | KCNT1 | c.3533C>G (p.Ser1178Cys) c.3437C>G (p.Ser1146Cys) c.3281C>G (p.Ser1094Cys) c.3344C>G (p.Ser1115Cys) c.3353C>G (p.Ser1118Cys) c.3497C>G (p.Ser1166Cys) c.*3206C>G (n.*3206C>G) n.2839C>G c.3479C>G (p.Ser1160Cys) c.3596C>G (p.Ser1199Cys) c.3518C>G (p.Ser1173Cys) c.3476C>G (p.Ser1159Cys) c.3461C>G (p.Ser1154Cys) c.3431C>G (p.Ser1144Cys) c.3539C>G (p.Ser1180Cys) c.3731C>G (p.Ser1244Cys) c.3677C>G (p.Ser1226Cys) c.3668C>G (p.Ser1223Cys) c.3086C>G (p.Ser1029Cys) c.3530C>G (p.Ser1177Cys) | |
| 9 | g.135791827C>T | CA375493842 | KCNT1 | c.3533C>T (p.Ser1178Phe) c.3437C>T (p.Ser1146Phe) c.3281C>T (p.Ser1094Phe) c.3344C>T (p.Ser1115Phe) c.3353C>T (p.Ser1118Phe) c.3497C>T (p.Ser1166Phe) c.*3206C>T (n.*3206C>T) n.2839C>T c.3479C>T (p.Ser1160Phe) c.3596C>T (p.Ser1199Phe) c.3518C>T (p.Ser1173Phe) c.3476C>T (p.Ser1159Phe) c.3461C>T (p.Ser1154Phe) c.3431C>T (p.Ser1144Phe) c.3539C>T (p.Ser1180Phe) c.3731C>T (p.Ser1244Phe) c.3677C>T (p.Ser1226Phe) c.3668C>T (p.Ser1223Phe) c.3086C>T (p.Ser1029Phe) c.3530C>T (p.Ser1177Phe) | |
| 9 | g.135791828C>A | CA467701135 | KCNT1 | c.3534C>A (p.Ser1178=) c.3438C>A (p.Ser1146=) c.3282C>A (p.Ser1094=) c.3345C>A (p.Ser1115=) c.3354C>A (p.Ser1118=) c.3498C>A (p.Ser1166=) c.*3207C>A (n.*3207C>A) n.2840C>A c.3480C>A (p.Ser1160=) c.3597C>A (p.Ser1199=) c.3519C>A (p.Ser1173=) c.3477C>A (p.Ser1159=) c.3462C>A (p.Ser1154=) c.3432C>A (p.Ser1144=) c.3540C>A (p.Ser1180=) c.3732C>A (p.Ser1244=) c.3678C>A (p.Ser1226=) c.3669C>A (p.Ser1223=) c.3087C>A (p.Ser1029=) c.3531C>A (p.Ser1177=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135791828C= | CA1883892489 | KCNT1 | c.3534C= (p.Ser1178=) c.3438C= (p.Ser1146=) c.3282C= (p.Ser1094=) c.3345C= (p.Ser1115=) c.3354C= (p.Ser1118=) c.3498C= (p.Ser1166=) c.*3207C= (n.*3207C=) n.2840C= c.3480C= (p.Ser1160=) c.3597C= (p.Ser1199=) c.3519C= (p.Ser1173=) c.3477C= (p.Ser1159=) c.3462C= (p.Ser1154=) c.3432C= (p.Ser1144=) c.3540C= (p.Ser1180=) c.3732C= (p.Ser1244=) c.3678C= (p.Ser1226=) c.3669C= (p.Ser1223=) c.3087C= (p.Ser1029=) c.3531C= (p.Ser1177=) | |
| 9 | g.135791828C>G | CA467701136 | KCNT1 | c.3534C>G (p.Ser1178=) c.3438C>G (p.Ser1146=) c.3282C>G (p.Ser1094=) c.3345C>G (p.Ser1115=) c.3354C>G (p.Ser1118=) c.3498C>G (p.Ser1166=) c.*3207C>G (n.*3207C>G) n.2840C>G c.3480C>G (p.Ser1160=) c.3597C>G (p.Ser1199=) c.3519C>G (p.Ser1173=) c.3477C>G (p.Ser1159=) c.3462C>G (p.Ser1154=) c.3432C>G (p.Ser1144=) c.3540C>G (p.Ser1180=) c.3732C>G (p.Ser1244=) c.3678C>G (p.Ser1226=) c.3669C>G (p.Ser1223=) c.3087C>G (p.Ser1029=) c.3531C>G (p.Ser1177=) | |
| 9 | g.135791828C>T | CA467701138 | KCNT1 | c.3534C>T (p.Ser1178=) c.3438C>T (p.Ser1146=) c.3282C>T (p.Ser1094=) c.3345C>T (p.Ser1115=) c.3354C>T (p.Ser1118=) c.3498C>T (p.Ser1166=) c.*3207C>T (n.*3207C>T) n.2840C>T c.3480C>T (p.Ser1160=) c.3597C>T (p.Ser1199=) c.3519C>T (p.Ser1173=) c.3477C>T (p.Ser1159=) c.3462C>T (p.Ser1154=) c.3432C>T (p.Ser1144=) c.3540C>T (p.Ser1180=) c.3732C>T (p.Ser1244=) c.3678C>T (p.Ser1226=) c.3669C>T (p.Ser1223=) c.3087C>T (p.Ser1029=) c.3531C>T (p.Ser1177=) | |
| 9 | g.135791829T>A | CA375493848 | KCNT1 | c.3535T>A (p.Tyr1179Asn) c.3439T>A (p.Tyr1147Asn) c.3283T>A (p.Tyr1095Asn) c.3346T>A (p.Tyr1116Asn) c.3355T>A (p.Tyr1119Asn) c.3499T>A (p.Tyr1167Asn) c.*3208T>A (n.*3208T>A) n.2841T>A c.3481T>A (p.Tyr1161Asn) c.3598T>A (p.Tyr1200Asn) c.3520T>A (p.Tyr1174Asn) c.3478T>A (p.Tyr1160Asn) c.3463T>A (p.Tyr1155Asn) c.3433T>A (p.Tyr1145Asn) c.3541T>A (p.Tyr1181Asn) c.3733T>A (p.Tyr1245Asn) c.3679T>A (p.Tyr1227Asn) c.3670T>A (p.Tyr1224Asn) c.3088T>A (p.Tyr1030Asn) c.3532T>A (p.Tyr1178Asn) | |
| 9 | g.135791829T>C | CA375493846 | KCNT1 | c.3535T>C (p.Tyr1179His) c.3439T>C (p.Tyr1147His) c.3283T>C (p.Tyr1095His) c.3346T>C (p.Tyr1116His) c.3355T>C (p.Tyr1119His) c.3499T>C (p.Tyr1167His) c.*3208T>C (n.*3208T>C) n.2841T>C c.3481T>C (p.Tyr1161His) c.3598T>C (p.Tyr1200His) c.3520T>C (p.Tyr1174His) c.3478T>C (p.Tyr1160His) c.3463T>C (p.Tyr1155His) c.3433T>C (p.Tyr1145His) c.3541T>C (p.Tyr1181His) c.3733T>C (p.Tyr1245His) c.3679T>C (p.Tyr1227His) c.3670T>C (p.Tyr1224His) c.3088T>C (p.Tyr1030His) c.3532T>C (p.Tyr1178His) | |
| 9 | g.135791829T>G | CA375493845 | KCNT1 | c.3535T>G (p.Tyr1179Asp) c.3439T>G (p.Tyr1147Asp) c.3283T>G (p.Tyr1095Asp) c.3346T>G (p.Tyr1116Asp) c.3355T>G (p.Tyr1119Asp) c.3499T>G (p.Tyr1167Asp) c.*3208T>G (n.*3208T>G) n.2841T>G c.3481T>G (p.Tyr1161Asp) c.3598T>G (p.Tyr1200Asp) c.3520T>G (p.Tyr1174Asp) c.3478T>G (p.Tyr1160Asp) c.3463T>G (p.Tyr1155Asp) c.3433T>G (p.Tyr1145Asp) c.3541T>G (p.Tyr1181Asp) c.3733T>G (p.Tyr1245Asp) c.3679T>G (p.Tyr1227Asp) c.3670T>G (p.Tyr1224Asp) c.3088T>G (p.Tyr1030Asp) c.3532T>G (p.Tyr1178Asp) | |
| 9 | g.135791830A>C | CA375493850 | KCNT1 | c.3536A>C (p.Tyr1179Ser) c.3440A>C (p.Tyr1147Ser) c.3284A>C (p.Tyr1095Ser) c.3347A>C (p.Tyr1116Ser) c.3356A>C (p.Tyr1119Ser) c.3500A>C (p.Tyr1167Ser) c.*3209A>C (n.*3209A>C) n.2842A>C c.3482A>C (p.Tyr1161Ser) c.3599A>C (p.Tyr1200Ser) c.3521A>C (p.Tyr1174Ser) c.3479A>C (p.Tyr1160Ser) c.3464A>C (p.Tyr1155Ser) c.3434A>C (p.Tyr1145Ser) c.3542A>C (p.Tyr1181Ser) c.3734A>C (p.Tyr1245Ser) c.3680A>C (p.Tyr1227Ser) c.3671A>C (p.Tyr1224Ser) c.3089A>C (p.Tyr1030Ser) c.3533A>C (p.Tyr1178Ser) | |
| 9 | g.135791830A>G | CA375493852 | KCNT1 | c.3536A>G (p.Tyr1179Cys) c.3440A>G (p.Tyr1147Cys) c.3284A>G (p.Tyr1095Cys) c.3347A>G (p.Tyr1116Cys) c.3356A>G (p.Tyr1119Cys) c.3500A>G (p.Tyr1167Cys) c.*3209A>G (n.*3209A>G) n.2842A>G c.3482A>G (p.Tyr1161Cys) c.3599A>G (p.Tyr1200Cys) c.3521A>G (p.Tyr1174Cys) c.3479A>G (p.Tyr1160Cys) c.3464A>G (p.Tyr1155Cys) c.3434A>G (p.Tyr1145Cys) c.3542A>G (p.Tyr1181Cys) c.3734A>G (p.Tyr1245Cys) c.3680A>G (p.Tyr1227Cys) c.3671A>G (p.Tyr1224Cys) c.3089A>G (p.Tyr1030Cys) c.3533A>G (p.Tyr1178Cys) | |
| 9 | g.135791830A>T | CA375493853 | KCNT1 | c.3536A>T (p.Tyr1179Phe) c.3440A>T (p.Tyr1147Phe) c.3284A>T (p.Tyr1095Phe) c.3347A>T (p.Tyr1116Phe) c.3356A>T (p.Tyr1119Phe) c.3500A>T (p.Tyr1167Phe) c.*3209A>T (n.*3209A>T) n.2842A>T c.3482A>T (p.Tyr1161Phe) c.3599A>T (p.Tyr1200Phe) c.3521A>T (p.Tyr1174Phe) c.3479A>T (p.Tyr1160Phe) c.3464A>T (p.Tyr1155Phe) c.3434A>T (p.Tyr1145Phe) c.3542A>T (p.Tyr1181Phe) c.3734A>T (p.Tyr1245Phe) c.3680A>T (p.Tyr1227Phe) c.3671A>T (p.Tyr1224Phe) c.3089A>T (p.Tyr1030Phe) c.3533A>T (p.Tyr1178Phe) | |
| 9 | g.135791831C>A | CA375493855 | KCNT1 | c.3537C>A (p.Tyr1179Ter) c.3441C>A (p.Tyr1147Ter) c.3285C>A (p.Tyr1095Ter) c.3348C>A (p.Tyr1116Ter) c.3357C>A (p.Tyr1119Ter) c.3501C>A (p.Tyr1167Ter) c.*3210C>A (n.*3210C>A) n.2843C>A c.3483C>A (p.Tyr1161Ter) c.3600C>A (p.Tyr1200Ter) c.3522C>A (p.Tyr1174Ter) c.3480C>A (p.Tyr1160Ter) c.3465C>A (p.Tyr1155Ter) c.3435C>A (p.Tyr1145Ter) c.3543C>A (p.Tyr1181Ter) c.3735C>A (p.Tyr1245Ter) c.3681C>A (p.Tyr1227Ter) c.3672C>A (p.Tyr1224Ter) c.3090C>A (p.Tyr1030Ter) c.3534C>A (p.Tyr1178Ter) | |
| 9 | g.135791831C= | CA1883892490 | KCNT1 | c.3537C= (p.Tyr1179=) c.3441C= (p.Tyr1147=) c.3285C= (p.Tyr1095=) c.3348C= (p.Tyr1116=) c.3357C= (p.Tyr1119=) c.3501C= (p.Tyr1167=) c.*3210C= (n.*3210C=) n.2843C= c.3483C= (p.Tyr1161=) c.3600C= (p.Tyr1200=) c.3522C= (p.Tyr1174=) c.3480C= (p.Tyr1160=) c.3465C= (p.Tyr1155=) c.3435C= (p.Tyr1145=) c.3543C= (p.Tyr1181=) c.3735C= (p.Tyr1245=) c.3681C= (p.Tyr1227=) c.3672C= (p.Tyr1224=) c.3090C= (p.Tyr1030=) c.3534C= (p.Tyr1178=) | |
| 9 | g.135791831C>G | CA375493857 | KCNT1 | c.3537C>G (p.Tyr1179Ter) c.3441C>G (p.Tyr1147Ter) c.3285C>G (p.Tyr1095Ter) c.3348C>G (p.Tyr1116Ter) c.3357C>G (p.Tyr1119Ter) c.3501C>G (p.Tyr1167Ter) c.*3210C>G (n.*3210C>G) n.2843C>G c.3483C>G (p.Tyr1161Ter) c.3600C>G (p.Tyr1200Ter) c.3522C>G (p.Tyr1174Ter) c.3480C>G (p.Tyr1160Ter) c.3465C>G (p.Tyr1155Ter) c.3435C>G (p.Tyr1145Ter) c.3543C>G (p.Tyr1181Ter) c.3735C>G (p.Tyr1245Ter) c.3681C>G (p.Tyr1227Ter) c.3672C>G (p.Tyr1224Ter) c.3090C>G (p.Tyr1030Ter) c.3534C>G (p.Tyr1178Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791831C>T | CA243652 | KCNT1 | c.3537C>T (p.Tyr1179=) c.3441C>T (p.Tyr1147=) c.3285C>T (p.Tyr1095=) c.3348C>T (p.Tyr1116=) c.3357C>T (p.Tyr1119=) c.3501C>T (p.Tyr1167=) c.*3210C>T (n.*3210C>T) n.2843C>T c.3483C>T (p.Tyr1161=) c.3600C>T (p.Tyr1200=) c.3522C>T (p.Tyr1174=) c.3480C>T (p.Tyr1160=) c.3465C>T (p.Tyr1155=) c.3435C>T (p.Tyr1145=) c.3543C>T (p.Tyr1181=) c.3735C>T (p.Tyr1245=) c.3681C>T (p.Tyr1227=) c.3672C>T (p.Tyr1224=) c.3090C>T (p.Tyr1030=) c.3534C>T (p.Tyr1178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135791832G>A | CA5327936 | KCNT1 | c.3538G>A (p.Val1180Ile) c.3442G>A (p.Val1148Ile) c.3286G>A (p.Val1096Ile) c.3349G>A (p.Val1117Ile) c.3358G>A (p.Val1120Ile) c.3502G>A (p.Val1168Ile) c.*3211G>A (n.*3211G>A) n.2844G>A c.3484G>A (p.Val1162Ile) c.3601G>A (p.Val1201Ile) c.3523G>A (p.Val1175Ile) c.3481G>A (p.Val1161Ile) c.3466G>A (p.Val1156Ile) c.3436G>A (p.Val1146Ile) c.3544G>A (p.Val1182Ile) c.3736G>A (p.Val1246Ile) c.3682G>A (p.Val1228Ile) c.3673G>A (p.Val1225Ile) c.3091G>A (p.Val1031Ile) c.3535G>A (p.Val1179Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791832G>C | CA375493859 | KCNT1 | c.3538G>C (p.Val1180Leu) c.3442G>C (p.Val1148Leu) c.3286G>C (p.Val1096Leu) c.3349G>C (p.Val1117Leu) c.3358G>C (p.Val1120Leu) c.3502G>C (p.Val1168Leu) c.*3211G>C (n.*3211G>C) n.2844G>C c.3484G>C (p.Val1162Leu) c.3601G>C (p.Val1201Leu) c.3523G>C (p.Val1175Leu) c.3481G>C (p.Val1161Leu) c.3466G>C (p.Val1156Leu) c.3436G>C (p.Val1146Leu) c.3544G>C (p.Val1182Leu) c.3736G>C (p.Val1246Leu) c.3682G>C (p.Val1228Leu) c.3673G>C (p.Val1225Leu) c.3091G>C (p.Val1031Leu) c.3535G>C (p.Val1179Leu) | |
| 9 | g.135791832G= | CA1883892491 | KCNT1 | c.3538G= (p.Val1180=) c.3442G= (p.Val1148=) c.3286G= (p.Val1096=) c.3349G= (p.Val1117=) c.3358G= (p.Val1120=) c.3502G= (p.Val1168=) c.*3211G= (n.*3211G=) n.2844G= c.3484G= (p.Val1162=) c.3601G= (p.Val1201=) c.3523G= (p.Val1175=) c.3481G= (p.Val1161=) c.3466G= (p.Val1156=) c.3436G= (p.Val1146=) c.3544G= (p.Val1182=) c.3736G= (p.Val1246=) c.3682G= (p.Val1228=) c.3673G= (p.Val1225=) c.3091G= (p.Val1031=) c.3535G= (p.Val1179=) | |
| 9 | g.135791832G>T | CA375493860 | KCNT1 | c.3538G>T (p.Val1180Phe) c.3442G>T (p.Val1148Phe) c.3286G>T (p.Val1096Phe) c.3349G>T (p.Val1117Phe) c.3358G>T (p.Val1120Phe) c.3502G>T (p.Val1168Phe) c.*3211G>T (n.*3211G>T) n.2844G>T c.3484G>T (p.Val1162Phe) c.3601G>T (p.Val1201Phe) c.3523G>T (p.Val1175Phe) c.3481G>T (p.Val1161Phe) c.3466G>T (p.Val1156Phe) c.3436G>T (p.Val1146Phe) c.3544G>T (p.Val1182Phe) c.3736G>T (p.Val1246Phe) c.3682G>T (p.Val1228Phe) c.3673G>T (p.Val1225Phe) c.3091G>T (p.Val1031Phe) c.3535G>T (p.Val1179Phe) | |
| 9 | g.135791832_135791835delinsGTCC | CA1883892492 | KCNT1 | c.3538_3541delinsGTCC (p.Val1180=) c.3442_3445delinsGTCC (p.Val1148=) c.3286_3289delinsGTCC (p.Val1096=) c.3349_3352delinsGTCC (p.Val1117=) c.3358_3361delinsGTCC (p.Val1120=) c.3502_3505delinsGTCC (p.Val1168=) c.*3211_*3214delinsGTCC (n.*3211_*3214delinsGTCC) n.2844_2847delinsGTCC c.3484_3487delinsGTCC (p.Val1162=) c.3601_3604delinsGTCC (p.Val1201=) c.3523_3526delinsGTCC (p.Val1175=) c.3481_3484delinsGTCC (p.Val1161=) c.3466_3469delinsGTCC (p.Val1156=) c.3436_3439delinsGTCC (p.Val1146=) c.3544_3547delinsGTCC (p.Val1182=) c.3736_3739delinsGTCC (p.Val1246=) c.3682_3685delinsGTCC (p.Val1228=) c.3673_3676delinsGTCC (p.Val1225=) c.3091_3094delinsGTCC (p.Val1031=) c.3535_3538delinsGTCC (p.Val1179=) | |
| 9 | g.135791833T>A | CA375493863 | KCNT1 | c.3539T>A (p.Val1180Asp) c.3443T>A (p.Val1148Asp) c.3287T>A (p.Val1096Asp) c.3350T>A (p.Val1117Asp) c.3359T>A (p.Val1120Asp) c.3503T>A (p.Val1168Asp) c.*3212T>A (n.*3212T>A) n.2845T>A c.3485T>A (p.Val1162Asp) c.3602T>A (p.Val1201Asp) c.3524T>A (p.Val1175Asp) c.3482T>A (p.Val1161Asp) c.3467T>A (p.Val1156Asp) c.3437T>A (p.Val1146Asp) c.3545T>A (p.Val1182Asp) c.3737T>A (p.Val1246Asp) c.3683T>A (p.Val1228Asp) c.3674T>A (p.Val1225Asp) c.3092T>A (p.Val1031Asp) c.3536T>A (p.Val1179Asp) | |
| 9 | g.135791833T>C | CA375493865 | KCNT1 | c.3539T>C (p.Val1180Ala) c.3443T>C (p.Val1148Ala) c.3287T>C (p.Val1096Ala) c.3350T>C (p.Val1117Ala) c.3359T>C (p.Val1120Ala) c.3503T>C (p.Val1168Ala) c.*3212T>C (n.*3212T>C) n.2845T>C c.3485T>C (p.Val1162Ala) c.3602T>C (p.Val1201Ala) c.3524T>C (p.Val1175Ala) c.3482T>C (p.Val1161Ala) c.3467T>C (p.Val1156Ala) c.3437T>C (p.Val1146Ala) c.3545T>C (p.Val1182Ala) c.3737T>C (p.Val1246Ala) c.3683T>C (p.Val1228Ala) c.3674T>C (p.Val1225Ala) c.3092T>C (p.Val1031Ala) c.3536T>C (p.Val1179Ala) | |
| 9 | g.135791833T>G | CA375493868 | KCNT1 | c.3539T>G (p.Val1180Gly) c.3443T>G (p.Val1148Gly) c.3287T>G (p.Val1096Gly) c.3350T>G (p.Val1117Gly) c.3359T>G (p.Val1120Gly) c.3503T>G (p.Val1168Gly) c.*3212T>G (n.*3212T>G) n.2845T>G c.3485T>G (p.Val1162Gly) c.3602T>G (p.Val1201Gly) c.3524T>G (p.Val1175Gly) c.3482T>G (p.Val1161Gly) c.3467T>G (p.Val1156Gly) c.3437T>G (p.Val1146Gly) c.3545T>G (p.Val1182Gly) c.3737T>G (p.Val1246Gly) c.3683T>G (p.Val1228Gly) c.3674T>G (p.Val1225Gly) c.3092T>G (p.Val1031Gly) c.3536T>G (p.Val1179Gly) | |
| 9 | g.135791833T= | CA1883892494 | KCNT1 | c.3539T= (p.Val1180=) c.3443T= (p.Val1148=) c.3287T= (p.Val1096=) c.3350T= (p.Val1117=) c.3359T= (p.Val1120=) c.3503T= (p.Val1168=) c.*3212T= (n.*3212T=) n.2845T= c.3485T= (p.Val1162=) c.3602T= (p.Val1201=) c.3524T= (p.Val1175=) c.3482T= (p.Val1161=) c.3467T= (p.Val1156=) c.3437T= (p.Val1146=) c.3545T= (p.Val1182=) c.3737T= (p.Val1246=) c.3683T= (p.Val1228=) c.3674T= (p.Val1225=) c.3092T= (p.Val1031=) c.3536T= (p.Val1179=) | |
| 9 | g.135791835_135791837del | CA1883892493 | KCNT1 | c.3541_3543del (p.Leu1181del) c.3445_3447del (p.Leu1149del) c.3289_3291del (p.Leu1097del) c.3352_3354del (p.Leu1118del) c.3361_3363del (p.Leu1121del) c.3505_3507del (p.Leu1169del) c.*3214_*3216del (n.*3214_*3216del) n.2847_2849del c.3487_3489del (p.Leu1163del) c.3604_3606del (p.Leu1202del) c.3526_3528del (p.Leu1176del) c.3484_3486del (p.Leu1162del) c.3469_3471del (p.Leu1157del) c.3439_3441del (p.Leu1147del) c.3547_3549del (p.Leu1183del) c.3739_3741del (p.Leu1247del) c.3685_3687del (p.Leu1229del) c.3676_3678del (p.Leu1226del) c.3094_3096del (p.Leu1032del) c.3538_3540del (p.Leu1180del) | dbSNP gnomAD v4 |
| 9 | g.135791834C>A | CA467701154 | KCNT1 | c.3540C>A (p.Val1180=) c.3444C>A (p.Val1148=) c.3288C>A (p.Val1096=) c.3351C>A (p.Val1117=) c.3360C>A (p.Val1120=) c.3504C>A (p.Val1168=) c.*3213C>A (n.*3213C>A) n.2846C>A c.3486C>A (p.Val1162=) c.3603C>A (p.Val1201=) c.3525C>A (p.Val1175=) c.3483C>A (p.Val1161=) c.3468C>A (p.Val1156=) c.3438C>A (p.Val1146=) c.3546C>A (p.Val1182=) c.3738C>A (p.Val1246=) c.3684C>A (p.Val1228=) c.3675C>A (p.Val1225=) c.3093C>A (p.Val1031=) c.3537C>A (p.Val1179=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791834C= | CA1883892495 | KCNT1 | c.3540C= (p.Val1180=) c.3444C= (p.Val1148=) c.3288C= (p.Val1096=) c.3351C= (p.Val1117=) c.3360C= (p.Val1120=) c.3504C= (p.Val1168=) c.*3213C= (n.*3213C=) n.2846C= c.3486C= (p.Val1162=) c.3603C= (p.Val1201=) c.3525C= (p.Val1175=) c.3483C= (p.Val1161=) c.3468C= (p.Val1156=) c.3438C= (p.Val1146=) c.3546C= (p.Val1182=) c.3738C= (p.Val1246=) c.3684C= (p.Val1228=) c.3675C= (p.Val1225=) c.3093C= (p.Val1031=) c.3537C= (p.Val1179=) | |
| 9 | g.135791834C>G | CA467701156 | KCNT1 | c.3540C>G (p.Val1180=) c.3444C>G (p.Val1148=) c.3288C>G (p.Val1096=) c.3351C>G (p.Val1117=) c.3360C>G (p.Val1120=) c.3504C>G (p.Val1168=) c.*3213C>G (n.*3213C>G) n.2846C>G c.3486C>G (p.Val1162=) c.3603C>G (p.Val1201=) c.3525C>G (p.Val1175=) c.3483C>G (p.Val1161=) c.3468C>G (p.Val1156=) c.3438C>G (p.Val1146=) c.3546C>G (p.Val1182=) c.3738C>G (p.Val1246=) c.3684C>G (p.Val1228=) c.3675C>G (p.Val1225=) c.3093C>G (p.Val1031=) c.3537C>G (p.Val1179=) | |
| 9 | g.135791834C>T | CA5327937 | KCNT1 | c.3540C>T (p.Val1180=) c.3444C>T (p.Val1148=) c.3288C>T (p.Val1096=) c.3351C>T (p.Val1117=) c.3360C>T (p.Val1120=) c.3504C>T (p.Val1168=) c.*3213C>T (n.*3213C>T) n.2846C>T c.3486C>T (p.Val1162=) c.3603C>T (p.Val1201=) c.3525C>T (p.Val1175=) c.3483C>T (p.Val1161=) c.3468C>T (p.Val1156=) c.3438C>T (p.Val1146=) c.3546C>T (p.Val1182=) c.3738C>T (p.Val1246=) c.3684C>T (p.Val1228=) c.3675C>T (p.Val1225=) c.3093C>T (p.Val1031=) c.3537C>T (p.Val1179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791836_135791852dup | CA1129959390 | KCNT1 | c.3542_3558dup (p.Asp1187SerfsTer?) c.3446_3462dup (p.Asp1155SerfsTer?) c.3290_3306dup (p.Asp1103SerfsTer?) c.3353_3369dup (p.Asp1124SerfsTer?) c.3362_3378dup (p.Asp1127SerfsTer?) c.3506_3522dup (p.Asp1175SerfsTer?) c.*3215_*3231dup (n.*3215_*3231dup) n.2848_2864dup c.3488_3504dup (p.Asp1169SerfsTer?) c.3605_3621dup (p.Asp1208SerfsTer?) c.3527_3543dup (p.Asp1182SerfsTer?) c.3485_3501dup (p.Asp1168SerfsTer?) c.3470_3486dup (p.Asp1163SerfsTer?) c.3440_3456dup (p.Asp1153SerfsTer?) c.3548_3564dup (p.Asp1189SerfsTer?) c.3740_3756dup (p.Asp1253SerfsTer?) c.3686_3702dup (p.Asp1235SerfsTer?) c.3677_3693dup (p.Asp1232SerfsTer?) c.3095_3111dup (p.Asp1038SerfsTer?) c.3539_3555dup (p.Asp1186SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791835C>A | CA375493879 | KCNT1 | c.3541C>A (p.Leu1181Ile) c.3445C>A (p.Leu1149Ile) c.3289C>A (p.Leu1097Ile) c.3352C>A (p.Leu1118Ile) c.3361C>A (p.Leu1121Ile) c.3505C>A (p.Leu1169Ile) c.*3214C>A (n.*3214C>A) n.2847C>A c.3487C>A (p.Leu1163Ile) c.3604C>A (p.Leu1202Ile) c.3526C>A (p.Leu1176Ile) c.3484C>A (p.Leu1162Ile) c.3469C>A (p.Leu1157Ile) c.3439C>A (p.Leu1147Ile) c.3547C>A (p.Leu1183Ile) c.3739C>A (p.Leu1247Ile) c.3685C>A (p.Leu1229Ile) c.3676C>A (p.Leu1226Ile) c.3094C>A (p.Leu1032Ile) c.3538C>A (p.Leu1180Ile) | |
| 9 | g.135791835C>G | CA375493873 | KCNT1 | c.3541C>G (p.Leu1181Val) c.3445C>G (p.Leu1149Val) c.3289C>G (p.Leu1097Val) c.3352C>G (p.Leu1118Val) c.3361C>G (p.Leu1121Val) c.3505C>G (p.Leu1169Val) c.*3214C>G (n.*3214C>G) n.2847C>G c.3487C>G (p.Leu1163Val) c.3604C>G (p.Leu1202Val) c.3526C>G (p.Leu1176Val) c.3484C>G (p.Leu1162Val) c.3469C>G (p.Leu1157Val) c.3439C>G (p.Leu1147Val) c.3547C>G (p.Leu1183Val) c.3739C>G (p.Leu1247Val) c.3685C>G (p.Leu1229Val) c.3676C>G (p.Leu1226Val) c.3094C>G (p.Leu1032Val) c.3538C>G (p.Leu1180Val) | COSMIC COSMIC |
| 9 | g.135791835C>T | CA375493876 | KCNT1 | c.3541C>T (p.Leu1181Phe) c.3445C>T (p.Leu1149Phe) c.3289C>T (p.Leu1097Phe) c.3352C>T (p.Leu1118Phe) c.3361C>T (p.Leu1121Phe) c.3505C>T (p.Leu1169Phe) c.*3214C>T (n.*3214C>T) n.2847C>T c.3487C>T (p.Leu1163Phe) c.3604C>T (p.Leu1202Phe) c.3526C>T (p.Leu1176Phe) c.3484C>T (p.Leu1162Phe) c.3469C>T (p.Leu1157Phe) c.3439C>T (p.Leu1147Phe) c.3547C>T (p.Leu1183Phe) c.3739C>T (p.Leu1247Phe) c.3685C>T (p.Leu1229Phe) c.3676C>T (p.Leu1226Phe) c.3094C>T (p.Leu1032Phe) c.3538C>T (p.Leu1180Phe) | |
| 9 | g.135791836T>A | CA375493882 | KCNT1 | c.3542T>A (p.Leu1181His) c.3446T>A (p.Leu1149His) c.3290T>A (p.Leu1097His) c.3353T>A (p.Leu1118His) c.3362T>A (p.Leu1121His) c.3506T>A (p.Leu1169His) c.*3215T>A (n.*3215T>A) n.2848T>A c.3488T>A (p.Leu1163His) c.3605T>A (p.Leu1202His) c.3527T>A (p.Leu1176His) c.3485T>A (p.Leu1162His) c.3470T>A (p.Leu1157His) c.3440T>A (p.Leu1147His) c.3548T>A (p.Leu1183His) c.3740T>A (p.Leu1247His) c.3686T>A (p.Leu1229His) c.3677T>A (p.Leu1226His) c.3095T>A (p.Leu1032His) c.3539T>A (p.Leu1180His) | |
| 9 | g.135791836T>C | CA375493883 | KCNT1 | c.3542T>C (p.Leu1181Pro) c.3446T>C (p.Leu1149Pro) c.3290T>C (p.Leu1097Pro) c.3353T>C (p.Leu1118Pro) c.3362T>C (p.Leu1121Pro) c.3506T>C (p.Leu1169Pro) c.*3215T>C (n.*3215T>C) n.2848T>C c.3488T>C (p.Leu1163Pro) c.3605T>C (p.Leu1202Pro) c.3527T>C (p.Leu1176Pro) c.3485T>C (p.Leu1162Pro) c.3470T>C (p.Leu1157Pro) c.3440T>C (p.Leu1147Pro) c.3548T>C (p.Leu1183Pro) c.3740T>C (p.Leu1247Pro) c.3686T>C (p.Leu1229Pro) c.3677T>C (p.Leu1226Pro) c.3095T>C (p.Leu1032Pro) c.3539T>C (p.Leu1180Pro) | |
| 9 | g.135791836T>G | CA375493896 | KCNT1 | c.3542T>G (p.Leu1181Arg) c.3446T>G (p.Leu1149Arg) c.3290T>G (p.Leu1097Arg) c.3353T>G (p.Leu1118Arg) c.3362T>G (p.Leu1121Arg) c.3506T>G (p.Leu1169Arg) c.*3215T>G (n.*3215T>G) n.2848T>G c.3488T>G (p.Leu1163Arg) c.3605T>G (p.Leu1202Arg) c.3527T>G (p.Leu1176Arg) c.3485T>G (p.Leu1162Arg) c.3470T>G (p.Leu1157Arg) c.3440T>G (p.Leu1147Arg) c.3548T>G (p.Leu1183Arg) c.3740T>G (p.Leu1247Arg) c.3686T>G (p.Leu1229Arg) c.3677T>G (p.Leu1226Arg) c.3095T>G (p.Leu1032Arg) c.3539T>G (p.Leu1180Arg) | |
| 9 | g.135791837C>A | CA467701164 | KCNT1 | c.3543C>A (p.Leu1181=) c.3447C>A (p.Leu1149=) c.3291C>A (p.Leu1097=) c.3354C>A (p.Leu1118=) c.3363C>A (p.Leu1121=) c.3507C>A (p.Leu1169=) c.*3216C>A (n.*3216C>A) n.2849C>A c.3489C>A (p.Leu1163=) c.3606C>A (p.Leu1202=) c.3528C>A (p.Leu1176=) c.3486C>A (p.Leu1162=) c.3471C>A (p.Leu1157=) c.3441C>A (p.Leu1147=) c.3549C>A (p.Leu1183=) c.3741C>A (p.Leu1247=) c.3687C>A (p.Leu1229=) c.3678C>A (p.Leu1226=) c.3096C>A (p.Leu1032=) c.3540C>A (p.Leu1180=) | COSMIC |
| 9 | g.135791837C>G | CA467701167 | KCNT1 | c.3543C>G (p.Leu1181=) c.3447C>G (p.Leu1149=) c.3291C>G (p.Leu1097=) c.3354C>G (p.Leu1118=) c.3363C>G (p.Leu1121=) c.3507C>G (p.Leu1169=) c.*3216C>G (n.*3216C>G) n.2849C>G c.3489C>G (p.Leu1163=) c.3606C>G (p.Leu1202=) c.3528C>G (p.Leu1176=) c.3486C>G (p.Leu1162=) c.3471C>G (p.Leu1157=) c.3441C>G (p.Leu1147=) c.3549C>G (p.Leu1183=) c.3741C>G (p.Leu1247=) c.3687C>G (p.Leu1229=) c.3678C>G (p.Leu1226=) c.3096C>G (p.Leu1032=) c.3540C>G (p.Leu1180=) | |
| 9 | g.135791837C>T | CA467701166 | KCNT1 | c.3543C>T (p.Leu1181=) c.3447C>T (p.Leu1149=) c.3291C>T (p.Leu1097=) c.3354C>T (p.Leu1118=) c.3363C>T (p.Leu1121=) c.3507C>T (p.Leu1169=) c.*3216C>T (n.*3216C>T) n.2849C>T c.3489C>T (p.Leu1163=) c.3606C>T (p.Leu1202=) c.3528C>T (p.Leu1176=) c.3486C>T (p.Leu1162=) c.3471C>T (p.Leu1157=) c.3441C>T (p.Leu1147=) c.3549C>T (p.Leu1183=) c.3741C>T (p.Leu1247=) c.3687C>T (p.Leu1229=) c.3678C>T (p.Leu1226=) c.3096C>T (p.Leu1032=) c.3540C>T (p.Leu1180=) | |
| 9 | g.135791838A= | CA1883892496 | KCNT1 | c.3544A= (p.Ile1182=) c.3448A= (p.Ile1150=) c.3292A= (p.Ile1098=) c.3355A= (p.Ile1119=) c.3364A= (p.Ile1122=) c.3508A= (p.Ile1170=) c.*3217A= (n.*3217A=) n.2850A= c.3490A= (p.Ile1164=) c.3607A= (p.Ile1203=) c.3529A= (p.Ile1177=) c.3487A= (p.Ile1163=) c.3472A= (p.Ile1158=) c.3442A= (p.Ile1148=) c.3550A= (p.Ile1184=) c.3742A= (p.Ile1248=) c.3688A= (p.Ile1230=) c.3679A= (p.Ile1227=) c.3097A= (p.Ile1033=) c.3541A= (p.Ile1181=) | |
| 9 | g.135791838A>C | CA375493899 | KCNT1 | c.3544A>C (p.Ile1182Leu) c.3448A>C (p.Ile1150Leu) c.3292A>C (p.Ile1098Leu) c.3355A>C (p.Ile1119Leu) c.3364A>C (p.Ile1122Leu) c.3508A>C (p.Ile1170Leu) c.*3217A>C (n.*3217A>C) n.2850A>C c.3490A>C (p.Ile1164Leu) c.3607A>C (p.Ile1203Leu) c.3529A>C (p.Ile1177Leu) c.3487A>C (p.Ile1163Leu) c.3472A>C (p.Ile1158Leu) c.3442A>C (p.Ile1148Leu) c.3550A>C (p.Ile1184Leu) c.3742A>C (p.Ile1248Leu) c.3688A>C (p.Ile1230Leu) c.3679A>C (p.Ile1227Leu) c.3097A>C (p.Ile1033Leu) c.3541A>C (p.Ile1181Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791838A>G | CA375493902 | KCNT1 | c.3544A>G (p.Ile1182Val) c.3448A>G (p.Ile1150Val) c.3292A>G (p.Ile1098Val) c.3355A>G (p.Ile1119Val) c.3364A>G (p.Ile1122Val) c.3508A>G (p.Ile1170Val) c.*3217A>G (n.*3217A>G) n.2850A>G c.3490A>G (p.Ile1164Val) c.3607A>G (p.Ile1203Val) c.3529A>G (p.Ile1177Val) c.3487A>G (p.Ile1163Val) c.3472A>G (p.Ile1158Val) c.3442A>G (p.Ile1148Val) c.3550A>G (p.Ile1184Val) c.3742A>G (p.Ile1248Val) c.3688A>G (p.Ile1230Val) c.3679A>G (p.Ile1227Val) c.3097A>G (p.Ile1033Val) c.3541A>G (p.Ile1181Val) | gnomAD v4 |
| 9 | g.135791838A>T | CA375493905 | KCNT1 | c.3544A>T (p.Ile1182Phe) c.3448A>T (p.Ile1150Phe) c.3292A>T (p.Ile1098Phe) c.3355A>T (p.Ile1119Phe) c.3364A>T (p.Ile1122Phe) c.3508A>T (p.Ile1170Phe) c.*3217A>T (n.*3217A>T) n.2850A>T c.3490A>T (p.Ile1164Phe) c.3607A>T (p.Ile1203Phe) c.3529A>T (p.Ile1177Phe) c.3487A>T (p.Ile1163Phe) c.3472A>T (p.Ile1158Phe) c.3442A>T (p.Ile1148Phe) c.3550A>T (p.Ile1184Phe) c.3742A>T (p.Ile1248Phe) c.3688A>T (p.Ile1230Phe) c.3679A>T (p.Ile1227Phe) c.3097A>T (p.Ile1033Phe) c.3541A>T (p.Ile1181Phe) | |
| 9 | g.135791839T>A | CA375493909 | KCNT1 | c.3545T>A (p.Ile1182Asn) c.3449T>A (p.Ile1150Asn) c.3293T>A (p.Ile1098Asn) c.3356T>A (p.Ile1119Asn) c.3365T>A (p.Ile1122Asn) c.3509T>A (p.Ile1170Asn) c.*3218T>A (n.*3218T>A) n.2851T>A c.3491T>A (p.Ile1164Asn) c.3608T>A (p.Ile1203Asn) c.3530T>A (p.Ile1177Asn) c.3488T>A (p.Ile1163Asn) c.3473T>A (p.Ile1158Asn) c.3443T>A (p.Ile1148Asn) c.3551T>A (p.Ile1184Asn) c.3743T>A (p.Ile1248Asn) c.3689T>A (p.Ile1230Asn) c.3680T>A (p.Ile1227Asn) c.3098T>A (p.Ile1033Asn) c.3542T>A (p.Ile1181Asn) | |
| 9 | g.135791839T>C | CA375493910 | KCNT1 | c.3545T>C (p.Ile1182Thr) c.3449T>C (p.Ile1150Thr) c.3293T>C (p.Ile1098Thr) c.3356T>C (p.Ile1119Thr) c.3365T>C (p.Ile1122Thr) c.3509T>C (p.Ile1170Thr) c.*3218T>C (n.*3218T>C) n.2851T>C c.3491T>C (p.Ile1164Thr) c.3608T>C (p.Ile1203Thr) c.3530T>C (p.Ile1177Thr) c.3488T>C (p.Ile1163Thr) c.3473T>C (p.Ile1158Thr) c.3443T>C (p.Ile1148Thr) c.3551T>C (p.Ile1184Thr) c.3743T>C (p.Ile1248Thr) c.3689T>C (p.Ile1230Thr) c.3680T>C (p.Ile1227Thr) c.3098T>C (p.Ile1033Thr) c.3542T>C (p.Ile1181Thr) | |
| 9 | g.135791839T>G | CA375493912 | KCNT1 | c.3545T>G (p.Ile1182Ser) c.3449T>G (p.Ile1150Ser) c.3293T>G (p.Ile1098Ser) c.3356T>G (p.Ile1119Ser) c.3365T>G (p.Ile1122Ser) c.3509T>G (p.Ile1170Ser) c.*3218T>G (n.*3218T>G) n.2851T>G c.3491T>G (p.Ile1164Ser) c.3608T>G (p.Ile1203Ser) c.3530T>G (p.Ile1177Ser) c.3488T>G (p.Ile1163Ser) c.3473T>G (p.Ile1158Ser) c.3443T>G (p.Ile1148Ser) c.3551T>G (p.Ile1184Ser) c.3743T>G (p.Ile1248Ser) c.3689T>G (p.Ile1230Ser) c.3680T>G (p.Ile1227Ser) c.3098T>G (p.Ile1033Ser) c.3542T>G (p.Ile1181Ser) | |
| 9 | g.135791840C>A | CA467701174 | KCNT1 | c.3546C>A (p.Ile1182=) c.3450C>A (p.Ile1150=) c.3294C>A (p.Ile1098=) c.3357C>A (p.Ile1119=) c.3366C>A (p.Ile1122=) c.3510C>A (p.Ile1170=) c.*3219C>A (n.*3219C>A) n.2852C>A c.3492C>A (p.Ile1164=) c.3609C>A (p.Ile1203=) c.3531C>A (p.Ile1177=) c.3489C>A (p.Ile1163=) c.3474C>A (p.Ile1158=) c.3444C>A (p.Ile1148=) c.3552C>A (p.Ile1184=) c.3744C>A (p.Ile1248=) c.3690C>A (p.Ile1230=) c.3681C>A (p.Ile1227=) c.3099C>A (p.Ile1033=) c.3543C>A (p.Ile1181=) | |
| 9 | g.135791840C>G | CA375493915 | KCNT1 | c.3546C>G (p.Ile1182Met) c.3450C>G (p.Ile1150Met) c.3294C>G (p.Ile1098Met) c.3357C>G (p.Ile1119Met) c.3366C>G (p.Ile1122Met) c.3510C>G (p.Ile1170Met) c.*3219C>G (n.*3219C>G) n.2852C>G c.3492C>G (p.Ile1164Met) c.3609C>G (p.Ile1203Met) c.3531C>G (p.Ile1177Met) c.3489C>G (p.Ile1163Met) c.3474C>G (p.Ile1158Met) c.3444C>G (p.Ile1148Met) c.3552C>G (p.Ile1184Met) c.3744C>G (p.Ile1248Met) c.3690C>G (p.Ile1230Met) c.3681C>G (p.Ile1227Met) c.3099C>G (p.Ile1033Met) c.3543C>G (p.Ile1181Met) | |
| 9 | g.135791840C>T | CA467701176 | KCNT1 | c.3546C>T (p.Ile1182=) c.3450C>T (p.Ile1150=) c.3294C>T (p.Ile1098=) c.3357C>T (p.Ile1119=) c.3366C>T (p.Ile1122=) c.3510C>T (p.Ile1170=) c.*3219C>T (n.*3219C>T) n.2852C>T c.3492C>T (p.Ile1164=) c.3609C>T (p.Ile1203=) c.3531C>T (p.Ile1177=) c.3489C>T (p.Ile1163=) c.3474C>T (p.Ile1158=) c.3444C>T (p.Ile1148=) c.3552C>T (p.Ile1184=) c.3744C>T (p.Ile1248=) c.3690C>T (p.Ile1230=) c.3681C>T (p.Ile1227=) c.3099C>T (p.Ile1033=) c.3543C>T (p.Ile1181=) | |
| 9 | g.135791841A>C | CA375493919 | KCNT1 | c.3547A>C (p.Asn1183His) c.3451A>C (p.Asn1151His) c.3295A>C (p.Asn1099His) c.3358A>C (p.Asn1120His) c.3367A>C (p.Asn1123His) c.3511A>C (p.Asn1171His) c.*3220A>C (n.*3220A>C) n.2853A>C c.3493A>C (p.Asn1165His) c.3610A>C (p.Asn1204His) c.3532A>C (p.Asn1178His) c.3490A>C (p.Asn1164His) c.3475A>C (p.Asn1159His) c.3445A>C (p.Asn1149His) c.3553A>C (p.Asn1185His) c.3745A>C (p.Asn1249His) c.3691A>C (p.Asn1231His) c.3682A>C (p.Asn1228His) c.3100A>C (p.Asn1034His) c.3544A>C (p.Asn1182His) | |
| 9 | g.135791841A>G | CA375493920 | KCNT1 | c.3547A>G (p.Asn1183Asp) c.3451A>G (p.Asn1151Asp) c.3295A>G (p.Asn1099Asp) c.3358A>G (p.Asn1120Asp) c.3367A>G (p.Asn1123Asp) c.3511A>G (p.Asn1171Asp) c.*3220A>G (n.*3220A>G) n.2853A>G c.3493A>G (p.Asn1165Asp) c.3610A>G (p.Asn1204Asp) c.3532A>G (p.Asn1178Asp) c.3490A>G (p.Asn1164Asp) c.3475A>G (p.Asn1159Asp) c.3445A>G (p.Asn1149Asp) c.3553A>G (p.Asn1185Asp) c.3745A>G (p.Asn1249Asp) c.3691A>G (p.Asn1231Asp) c.3682A>G (p.Asn1228Asp) c.3100A>G (p.Asn1034Asp) c.3544A>G (p.Asn1182Asp) | |
| 9 | g.135791841A>T | CA375493924 | KCNT1 | c.3547A>T (p.Asn1183Tyr) c.3451A>T (p.Asn1151Tyr) c.3295A>T (p.Asn1099Tyr) c.3358A>T (p.Asn1120Tyr) c.3367A>T (p.Asn1123Tyr) c.3511A>T (p.Asn1171Tyr) c.*3220A>T (n.*3220A>T) n.2853A>T c.3493A>T (p.Asn1165Tyr) c.3610A>T (p.Asn1204Tyr) c.3532A>T (p.Asn1178Tyr) c.3490A>T (p.Asn1164Tyr) c.3475A>T (p.Asn1159Tyr) c.3445A>T (p.Asn1149Tyr) c.3553A>T (p.Asn1185Tyr) c.3745A>T (p.Asn1249Tyr) c.3691A>T (p.Asn1231Tyr) c.3682A>T (p.Asn1228Tyr) c.3100A>T (p.Asn1034Tyr) c.3544A>T (p.Asn1182Tyr) | |
| 9 | g.135791842A= | CA1883892497 | KCNT1 | c.3548A= (p.Asn1183=) c.3452A= (p.Asn1151=) c.3296A= (p.Asn1099=) c.3359A= (p.Asn1120=) c.3368A= (p.Asn1123=) c.3512A= (p.Asn1171=) c.*3221A= (n.*3221A=) n.2854A= c.3494A= (p.Asn1165=) c.3611A= (p.Asn1204=) c.3533A= (p.Asn1178=) c.3491A= (p.Asn1164=) c.3476A= (p.Asn1159=) c.3446A= (p.Asn1149=) c.3554A= (p.Asn1185=) c.3746A= (p.Asn1249=) c.3692A= (p.Asn1231=) c.3683A= (p.Asn1228=) c.3101A= (p.Asn1034=) c.3545A= (p.Asn1182=) | |
| 9 | g.135791842A>C | CA201431395 | KCNT1 | c.3548A>C (p.Asn1183Thr) c.3452A>C (p.Asn1151Thr) c.3296A>C (p.Asn1099Thr) c.3359A>C (p.Asn1120Thr) c.3368A>C (p.Asn1123Thr) c.3512A>C (p.Asn1171Thr) c.*3221A>C (n.*3221A>C) n.2854A>C c.3494A>C (p.Asn1165Thr) c.3611A>C (p.Asn1204Thr) c.3533A>C (p.Asn1178Thr) c.3491A>C (p.Asn1164Thr) c.3476A>C (p.Asn1159Thr) c.3446A>C (p.Asn1149Thr) c.3554A>C (p.Asn1185Thr) c.3746A>C (p.Asn1249Thr) c.3692A>C (p.Asn1231Thr) c.3683A>C (p.Asn1228Thr) c.3101A>C (p.Asn1034Thr) c.3545A>C (p.Asn1182Thr) | dbSNP |
| 9 | g.135791842A>G | CA375493937 | KCNT1 | c.3548A>G (p.Asn1183Ser) c.3452A>G (p.Asn1151Ser) c.3296A>G (p.Asn1099Ser) c.3359A>G (p.Asn1120Ser) c.3368A>G (p.Asn1123Ser) c.3512A>G (p.Asn1171Ser) c.*3221A>G (n.*3221A>G) n.2854A>G c.3494A>G (p.Asn1165Ser) c.3611A>G (p.Asn1204Ser) c.3533A>G (p.Asn1178Ser) c.3491A>G (p.Asn1164Ser) c.3476A>G (p.Asn1159Ser) c.3446A>G (p.Asn1149Ser) c.3554A>G (p.Asn1185Ser) c.3746A>G (p.Asn1249Ser) c.3692A>G (p.Asn1231Ser) c.3683A>G (p.Asn1228Ser) c.3101A>G (p.Asn1034Ser) c.3545A>G (p.Asn1182Ser) | |
| 9 | g.135791842A>T | CA375493932 | KCNT1 | c.3548A>T (p.Asn1183Ile) c.3452A>T (p.Asn1151Ile) c.3296A>T (p.Asn1099Ile) c.3359A>T (p.Asn1120Ile) c.3368A>T (p.Asn1123Ile) c.3512A>T (p.Asn1171Ile) c.*3221A>T (n.*3221A>T) n.2854A>T c.3494A>T (p.Asn1165Ile) c.3611A>T (p.Asn1204Ile) c.3533A>T (p.Asn1178Ile) c.3491A>T (p.Asn1164Ile) c.3476A>T (p.Asn1159Ile) c.3446A>T (p.Asn1149Ile) c.3554A>T (p.Asn1185Ile) c.3746A>T (p.Asn1249Ile) c.3692A>T (p.Asn1231Ile) c.3683A>T (p.Asn1228Ile) c.3101A>T (p.Asn1034Ile) c.3545A>T (p.Asn1182Ile) | |
| 9 | g.135791843C>A | CA375493948 | KCNT1 | c.3549C>A (p.Asn1183Lys) c.3453C>A (p.Asn1151Lys) c.3297C>A (p.Asn1099Lys) c.3360C>A (p.Asn1120Lys) c.3369C>A (p.Asn1123Lys) c.3513C>A (p.Asn1171Lys) c.*3222C>A (n.*3222C>A) n.2855C>A c.3495C>A (p.Asn1165Lys) c.3612C>A (p.Asn1204Lys) c.3534C>A (p.Asn1178Lys) c.3492C>A (p.Asn1164Lys) c.3477C>A (p.Asn1159Lys) c.3447C>A (p.Asn1149Lys) c.3555C>A (p.Asn1185Lys) c.3747C>A (p.Asn1249Lys) c.3693C>A (p.Asn1231Lys) c.3684C>A (p.Asn1228Lys) c.3102C>A (p.Asn1034Lys) c.3546C>A (p.Asn1182Lys) | |
| 9 | g.135791843C= | CA1883892498 | KCNT1 | c.3549C= (p.Asn1183=) c.3453C= (p.Asn1151=) c.3297C= (p.Asn1099=) c.3360C= (p.Asn1120=) c.3369C= (p.Asn1123=) c.3513C= (p.Asn1171=) c.*3222C= (n.*3222C=) n.2855C= c.3495C= (p.Asn1165=) c.3612C= (p.Asn1204=) c.3534C= (p.Asn1178=) c.3492C= (p.Asn1164=) c.3477C= (p.Asn1159=) c.3447C= (p.Asn1149=) c.3555C= (p.Asn1185=) c.3747C= (p.Asn1249=) c.3693C= (p.Asn1231=) c.3684C= (p.Asn1228=) c.3102C= (p.Asn1034=) c.3546C= (p.Asn1182=) | |
| 9 | g.135791843C>G | CA375493940 | KCNT1 | c.3549C>G (p.Asn1183Lys) c.3453C>G (p.Asn1151Lys) c.3297C>G (p.Asn1099Lys) c.3360C>G (p.Asn1120Lys) c.3369C>G (p.Asn1123Lys) c.3513C>G (p.Asn1171Lys) c.*3222C>G (n.*3222C>G) n.2855C>G c.3495C>G (p.Asn1165Lys) c.3612C>G (p.Asn1204Lys) c.3534C>G (p.Asn1178Lys) c.3492C>G (p.Asn1164Lys) c.3477C>G (p.Asn1159Lys) c.3447C>G (p.Asn1149Lys) c.3555C>G (p.Asn1185Lys) c.3747C>G (p.Asn1249Lys) c.3693C>G (p.Asn1231Lys) c.3684C>G (p.Asn1228Lys) c.3102C>G (p.Asn1034Lys) c.3546C>G (p.Asn1182Lys) | |
| 9 | g.135791843C>T | CA5327938 | KCNT1 | c.3549C>T (p.Asn1183=) c.3453C>T (p.Asn1151=) c.3297C>T (p.Asn1099=) c.3360C>T (p.Asn1120=) c.3369C>T (p.Asn1123=) c.3513C>T (p.Asn1171=) c.*3222C>T (n.*3222C>T) n.2855C>T c.3495C>T (p.Asn1165=) c.3612C>T (p.Asn1204=) c.3534C>T (p.Asn1178=) c.3492C>T (p.Asn1164=) c.3477C>T (p.Asn1159=) c.3447C>T (p.Asn1149=) c.3555C>T (p.Asn1185=) c.3747C>T (p.Asn1249=) c.3693C>T (p.Asn1231=) c.3684C>T (p.Asn1228=) c.3102C>T (p.Asn1034=) c.3546C>T (p.Asn1182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135791844C>A | CA375493953 | KCNT1 | c.3550C>A (p.Pro1184Thr) c.3454C>A (p.Pro1152Thr) c.3298C>A (p.Pro1100Thr) c.3361C>A (p.Pro1121Thr) c.3370C>A (p.Pro1124Thr) c.3514C>A (p.Pro1172Thr) c.*3223C>A (n.*3223C>A) n.2856C>A c.3496C>A (p.Pro1166Thr) c.3613C>A (p.Pro1205Thr) c.3535C>A (p.Pro1179Thr) c.3493C>A (p.Pro1165Thr) c.3478C>A (p.Pro1160Thr) c.3448C>A (p.Pro1150Thr) c.3556C>A (p.Pro1186Thr) c.3748C>A (p.Pro1250Thr) c.3694C>A (p.Pro1232Thr) c.3685C>A (p.Pro1229Thr) c.3103C>A (p.Pro1035Thr) c.3547C>A (p.Pro1183Thr) | |
| 9 | g.135791844C= | CA1883892499 | KCNT1 | c.3550C= (p.Pro1184=) c.3454C= (p.Pro1152=) c.3298C= (p.Pro1100=) c.3361C= (p.Pro1121=) c.3370C= (p.Pro1124=) c.3514C= (p.Pro1172=) c.*3223C= (n.*3223C=) n.2856C= c.3496C= (p.Pro1166=) c.3613C= (p.Pro1205=) c.3535C= (p.Pro1179=) c.3493C= (p.Pro1165=) c.3478C= (p.Pro1160=) c.3448C= (p.Pro1150=) c.3556C= (p.Pro1186=) c.3748C= (p.Pro1250=) c.3694C= (p.Pro1232=) c.3685C= (p.Pro1229=) c.3103C= (p.Pro1035=) c.3547C= (p.Pro1183=) | |
| 9 | g.135791844C>G | CA375493960 | KCNT1 | c.3550C>G (p.Pro1184Ala) c.3454C>G (p.Pro1152Ala) c.3298C>G (p.Pro1100Ala) c.3361C>G (p.Pro1121Ala) c.3370C>G (p.Pro1124Ala) c.3514C>G (p.Pro1172Ala) c.*3223C>G (n.*3223C>G) n.2856C>G c.3496C>G (p.Pro1166Ala) c.3613C>G (p.Pro1205Ala) c.3535C>G (p.Pro1179Ala) c.3493C>G (p.Pro1165Ala) c.3478C>G (p.Pro1160Ala) c.3448C>G (p.Pro1150Ala) c.3556C>G (p.Pro1186Ala) c.3748C>G (p.Pro1250Ala) c.3694C>G (p.Pro1232Ala) c.3685C>G (p.Pro1229Ala) c.3103C>G (p.Pro1035Ala) c.3547C>G (p.Pro1183Ala) | |
| 9 | g.135791844C>T | CA375493962 | KCNT1 | c.3550C>T (p.Pro1184Ser) c.3454C>T (p.Pro1152Ser) c.3298C>T (p.Pro1100Ser) c.3361C>T (p.Pro1121Ser) c.3370C>T (p.Pro1124Ser) c.3514C>T (p.Pro1172Ser) c.*3223C>T (n.*3223C>T) n.2856C>T c.3496C>T (p.Pro1166Ser) c.3613C>T (p.Pro1205Ser) c.3535C>T (p.Pro1179Ser) c.3493C>T (p.Pro1165Ser) c.3478C>T (p.Pro1160Ser) c.3448C>T (p.Pro1150Ser) c.3556C>T (p.Pro1186Ser) c.3748C>T (p.Pro1250Ser) c.3694C>T (p.Pro1232Ser) c.3685C>T (p.Pro1229Ser) c.3103C>T (p.Pro1035Ser) c.3547C>T (p.Pro1183Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135791845C>A | CA375493966 | KCNT1 | c.3551C>A (p.Pro1184His) c.3455C>A (p.Pro1152His) c.3299C>A (p.Pro1100His) c.3362C>A (p.Pro1121His) c.3371C>A (p.Pro1124His) c.3515C>A (p.Pro1172His) c.*3224C>A (n.*3224C>A) n.2857C>A c.3497C>A (p.Pro1166His) c.3614C>A (p.Pro1205His) c.3536C>A (p.Pro1179His) c.3494C>A (p.Pro1165His) c.3479C>A (p.Pro1160His) c.3449C>A (p.Pro1150His) c.3557C>A (p.Pro1186His) c.3749C>A (p.Pro1250His) c.3695C>A (p.Pro1232His) c.3686C>A (p.Pro1229His) c.3104C>A (p.Pro1035His) c.3548C>A (p.Pro1183His) | COSMIC COSMIC |
| 9 | g.135791845C>G | CA375493967 | KCNT1 | c.3551C>G (p.Pro1184Arg) c.3455C>G (p.Pro1152Arg) c.3299C>G (p.Pro1100Arg) c.3362C>G (p.Pro1121Arg) c.3371C>G (p.Pro1124Arg) c.3515C>G (p.Pro1172Arg) c.*3224C>G (n.*3224C>G) n.2857C>G c.3497C>G (p.Pro1166Arg) c.3614C>G (p.Pro1205Arg) c.3536C>G (p.Pro1179Arg) c.3494C>G (p.Pro1165Arg) c.3479C>G (p.Pro1160Arg) c.3449C>G (p.Pro1150Arg) c.3557C>G (p.Pro1186Arg) c.3749C>G (p.Pro1250Arg) c.3695C>G (p.Pro1232Arg) c.3686C>G (p.Pro1229Arg) c.3104C>G (p.Pro1035Arg) c.3548C>G (p.Pro1183Arg) | |
| 9 | g.135791845C>T | CA375493969 | KCNT1 | c.3551C>T (p.Pro1184Leu) c.3455C>T (p.Pro1152Leu) c.3299C>T (p.Pro1100Leu) c.3362C>T (p.Pro1121Leu) c.3371C>T (p.Pro1124Leu) c.3515C>T (p.Pro1172Leu) c.*3224C>T (n.*3224C>T) n.2857C>T c.3497C>T (p.Pro1166Leu) c.3614C>T (p.Pro1205Leu) c.3536C>T (p.Pro1179Leu) c.3494C>T (p.Pro1165Leu) c.3479C>T (p.Pro1160Leu) c.3449C>T (p.Pro1150Leu) c.3557C>T (p.Pro1186Leu) c.3749C>T (p.Pro1250Leu) c.3695C>T (p.Pro1232Leu) c.3686C>T (p.Pro1229Leu) c.3104C>T (p.Pro1035Leu) c.3548C>T (p.Pro1183Leu) | |
| 9 | g.135791846T>A | CA467701190 | KCNT1 | c.3552T>A (p.Pro1184=) c.3456T>A (p.Pro1152=) c.3300T>A (p.Pro1100=) c.3363T>A (p.Pro1121=) c.3372T>A (p.Pro1124=) c.3516T>A (p.Pro1172=) c.*3225T>A (n.*3225T>A) n.2858T>A c.3498T>A (p.Pro1166=) c.3615T>A (p.Pro1205=) c.3537T>A (p.Pro1179=) c.3495T>A (p.Pro1165=) c.3480T>A (p.Pro1160=) c.3450T>A (p.Pro1150=) c.3558T>A (p.Pro1186=) c.3750T>A (p.Pro1250=) c.3696T>A (p.Pro1232=) c.3687T>A (p.Pro1229=) c.3105T>A (p.Pro1035=) c.3549T>A (p.Pro1183=) | |
| 9 | g.135791846T>C | CA467701191 | KCNT1 | c.3552T>C (p.Pro1184=) c.3456T>C (p.Pro1152=) c.3300T>C (p.Pro1100=) c.3363T>C (p.Pro1121=) c.3372T>C (p.Pro1124=) c.3516T>C (p.Pro1172=) c.*3225T>C (n.*3225T>C) n.2858T>C c.3498T>C (p.Pro1166=) c.3615T>C (p.Pro1205=) c.3537T>C (p.Pro1179=) c.3495T>C (p.Pro1165=) c.3480T>C (p.Pro1160=) c.3450T>C (p.Pro1150=) c.3558T>C (p.Pro1186=) c.3750T>C (p.Pro1250=) c.3696T>C (p.Pro1232=) c.3687T>C (p.Pro1229=) c.3105T>C (p.Pro1035=) c.3549T>C (p.Pro1183=) | dbSNP gnomAD v4 |
| 9 | g.135791846T>G | CA467701193 | KCNT1 | c.3552T>G (p.Pro1184=) c.3456T>G (p.Pro1152=) c.3300T>G (p.Pro1100=) c.3363T>G (p.Pro1121=) c.3372T>G (p.Pro1124=) c.3516T>G (p.Pro1172=) c.*3225T>G (n.*3225T>G) n.2858T>G c.3498T>G (p.Pro1166=) c.3615T>G (p.Pro1205=) c.3537T>G (p.Pro1179=) c.3495T>G (p.Pro1165=) c.3480T>G (p.Pro1160=) c.3450T>G (p.Pro1150=) c.3558T>G (p.Pro1186=) c.3750T>G (p.Pro1250=) c.3696T>G (p.Pro1232=) c.3687T>G (p.Pro1229=) c.3105T>G (p.Pro1035=) c.3549T>G (p.Pro1183=) | |
| 9 | g.135791846T= | CA1883892500 | KCNT1 | c.3552T= (p.Pro1184=) c.3456T= (p.Pro1152=) c.3300T= (p.Pro1100=) c.3363T= (p.Pro1121=) c.3372T= (p.Pro1124=) c.3516T= (p.Pro1172=) c.*3225T= (n.*3225T=) n.2858T= c.3498T= (p.Pro1166=) c.3615T= (p.Pro1205=) c.3537T= (p.Pro1179=) c.3495T= (p.Pro1165=) c.3480T= (p.Pro1160=) c.3450T= (p.Pro1150=) c.3558T= (p.Pro1186=) c.3750T= (p.Pro1250=) c.3696T= (p.Pro1232=) c.3687T= (p.Pro1229=) c.3105T= (p.Pro1035=) c.3549T= (p.Pro1183=) | |
| 9 | g.135791847C>A | CA375493970 | KCNT1 | c.3553C>A (p.Pro1185Thr) c.3457C>A (p.Pro1153Thr) c.3301C>A (p.Pro1101Thr) c.3364C>A (p.Pro1122Thr) c.3373C>A (p.Pro1125Thr) c.3517C>A (p.Pro1173Thr) c.*3226C>A (n.*3226C>A) n.2859C>A c.3499C>A (p.Pro1167Thr) c.3616C>A (p.Pro1206Thr) c.3538C>A (p.Pro1180Thr) c.3496C>A (p.Pro1166Thr) c.3481C>A (p.Pro1161Thr) c.3451C>A (p.Pro1151Thr) c.3559C>A (p.Pro1187Thr) c.3751C>A (p.Pro1251Thr) c.3697C>A (p.Pro1233Thr) c.3688C>A (p.Pro1230Thr) c.3106C>A (p.Pro1036Thr) c.3550C>A (p.Pro1184Thr) | |
| 9 | g.135791847C>G | CA375493971 | KCNT1 | c.3553C>G (p.Pro1185Ala) c.3457C>G (p.Pro1153Ala) c.3301C>G (p.Pro1101Ala) c.3364C>G (p.Pro1122Ala) c.3373C>G (p.Pro1125Ala) c.3517C>G (p.Pro1173Ala) c.*3226C>G (n.*3226C>G) n.2859C>G c.3499C>G (p.Pro1167Ala) c.3616C>G (p.Pro1206Ala) c.3538C>G (p.Pro1180Ala) c.3496C>G (p.Pro1166Ala) c.3481C>G (p.Pro1161Ala) c.3451C>G (p.Pro1151Ala) c.3559C>G (p.Pro1187Ala) c.3751C>G (p.Pro1251Ala) c.3697C>G (p.Pro1233Ala) c.3688C>G (p.Pro1230Ala) c.3106C>G (p.Pro1036Ala) c.3550C>G (p.Pro1184Ala) | |
| 9 | g.135791847C>T | CA375493972 | KCNT1 | c.3553C>T (p.Pro1185Ser) c.3457C>T (p.Pro1153Ser) c.3301C>T (p.Pro1101Ser) c.3364C>T (p.Pro1122Ser) c.3373C>T (p.Pro1125Ser) c.3517C>T (p.Pro1173Ser) c.*3226C>T (n.*3226C>T) n.2859C>T c.3499C>T (p.Pro1167Ser) c.3616C>T (p.Pro1206Ser) c.3538C>T (p.Pro1180Ser) c.3496C>T (p.Pro1166Ser) c.3481C>T (p.Pro1161Ser) c.3451C>T (p.Pro1151Ser) c.3559C>T (p.Pro1187Ser) c.3751C>T (p.Pro1251Ser) c.3697C>T (p.Pro1233Ser) c.3688C>T (p.Pro1230Ser) c.3106C>T (p.Pro1036Ser) c.3550C>T (p.Pro1184Ser) | |
| 9 | g.135791848C>A | CA5327940 | KCNT1 | c.3554C>A (p.Pro1185Gln) c.3458C>A (p.Pro1153Gln) c.3302C>A (p.Pro1101Gln) c.3365C>A (p.Pro1122Gln) c.3374C>A (p.Pro1125Gln) c.3518C>A (p.Pro1173Gln) c.*3227C>A (n.*3227C>A) n.2860C>A c.3500C>A (p.Pro1167Gln) c.3617C>A (p.Pro1206Gln) c.3539C>A (p.Pro1180Gln) c.3497C>A (p.Pro1166Gln) c.3482C>A (p.Pro1161Gln) c.3452C>A (p.Pro1151Gln) c.3560C>A (p.Pro1187Gln) c.3752C>A (p.Pro1251Gln) c.3698C>A (p.Pro1233Gln) c.3689C>A (p.Pro1230Gln) c.3107C>A (p.Pro1036Gln) c.3551C>A (p.Pro1184Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791848C= | CA1883892501 | KCNT1 | c.3554C= (p.Pro1185=) c.3458C= (p.Pro1153=) c.3302C= (p.Pro1101=) c.3365C= (p.Pro1122=) c.3374C= (p.Pro1125=) c.3518C= (p.Pro1173=) c.*3227C= (n.*3227C=) n.2860C= c.3500C= (p.Pro1167=) c.3617C= (p.Pro1206=) c.3539C= (p.Pro1180=) c.3497C= (p.Pro1166=) c.3482C= (p.Pro1161=) c.3452C= (p.Pro1151=) c.3560C= (p.Pro1187=) c.3752C= (p.Pro1251=) c.3698C= (p.Pro1233=) c.3689C= (p.Pro1230=) c.3107C= (p.Pro1036=) c.3551C= (p.Pro1184=) | |
| 9 | g.135791848C>G | CA375493976 | KCNT1 | c.3554C>G (p.Pro1185Arg) c.3458C>G (p.Pro1153Arg) c.3302C>G (p.Pro1101Arg) c.3365C>G (p.Pro1122Arg) c.3374C>G (p.Pro1125Arg) c.3518C>G (p.Pro1173Arg) c.*3227C>G (n.*3227C>G) n.2860C>G c.3500C>G (p.Pro1167Arg) c.3617C>G (p.Pro1206Arg) c.3539C>G (p.Pro1180Arg) c.3497C>G (p.Pro1166Arg) c.3482C>G (p.Pro1161Arg) c.3452C>G (p.Pro1151Arg) c.3560C>G (p.Pro1187Arg) c.3752C>G (p.Pro1251Arg) c.3698C>G (p.Pro1233Arg) c.3689C>G (p.Pro1230Arg) c.3107C>G (p.Pro1036Arg) c.3551C>G (p.Pro1184Arg) | |
| 9 | g.135791848C>T | CA5327939 | KCNT1 | c.3554C>T (p.Pro1185Leu) c.3458C>T (p.Pro1153Leu) c.3302C>T (p.Pro1101Leu) c.3365C>T (p.Pro1122Leu) c.3374C>T (p.Pro1125Leu) c.3518C>T (p.Pro1173Leu) c.*3227C>T (n.*3227C>T) n.2860C>T c.3500C>T (p.Pro1167Leu) c.3617C>T (p.Pro1206Leu) c.3539C>T (p.Pro1180Leu) c.3497C>T (p.Pro1166Leu) c.3482C>T (p.Pro1161Leu) c.3452C>T (p.Pro1151Leu) c.3560C>T (p.Pro1187Leu) c.3752C>T (p.Pro1251Leu) c.3698C>T (p.Pro1233Leu) c.3689C>T (p.Pro1230Leu) c.3107C>T (p.Pro1036Leu) c.3551C>T (p.Pro1184Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791849G>A | CA5327942 | KCNT1 | c.3555G>A (p.Pro1185=) c.3459G>A (p.Pro1153=) c.3303G>A (p.Pro1101=) c.3366G>A (p.Pro1122=) c.3375G>A (p.Pro1125=) c.3519G>A (p.Pro1173=) c.*3228G>A (n.*3228G>A) n.2861G>A c.3501G>A (p.Pro1167=) c.3618G>A (p.Pro1206=) c.3540G>A (p.Pro1180=) c.3498G>A (p.Pro1166=) c.3483G>A (p.Pro1161=) c.3453G>A (p.Pro1151=) c.3561G>A (p.Pro1187=) c.3753G>A (p.Pro1251=) c.3699G>A (p.Pro1233=) c.3690G>A (p.Pro1230=) c.3108G>A (p.Pro1036=) c.3552G>A (p.Pro1184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.135791849G>C | CA467701202 | KCNT1 | c.3555G>C (p.Pro1185=) c.3459G>C (p.Pro1153=) c.3303G>C (p.Pro1101=) c.3366G>C (p.Pro1122=) c.3375G>C (p.Pro1125=) c.3519G>C (p.Pro1173=) c.*3228G>C (n.*3228G>C) n.2861G>C c.3501G>C (p.Pro1167=) c.3618G>C (p.Pro1206=) c.3540G>C (p.Pro1180=) c.3498G>C (p.Pro1166=) c.3483G>C (p.Pro1161=) c.3453G>C (p.Pro1151=) c.3561G>C (p.Pro1187=) c.3753G>C (p.Pro1251=) c.3699G>C (p.Pro1233=) c.3690G>C (p.Pro1230=) c.3108G>C (p.Pro1036=) c.3552G>C (p.Pro1184=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791849G= | CA1883892502 | KCNT1 | c.3555G= (p.Pro1185=) c.3459G= (p.Pro1153=) c.3303G= (p.Pro1101=) c.3366G= (p.Pro1122=) c.3375G= (p.Pro1125=) c.3519G= (p.Pro1173=) c.*3228G= (n.*3228G=) n.2861G= c.3501G= (p.Pro1167=) c.3618G= (p.Pro1206=) c.3540G= (p.Pro1180=) c.3498G= (p.Pro1166=) c.3483G= (p.Pro1161=) c.3453G= (p.Pro1151=) c.3561G= (p.Pro1187=) c.3753G= (p.Pro1251=) c.3699G= (p.Pro1233=) c.3690G= (p.Pro1230=) c.3108G= (p.Pro1036=) c.3552G= (p.Pro1184=) | |
| 9 | g.135791849G>T | CA5327941 | KCNT1 | c.3555G>T (p.Pro1185=) c.3459G>T (p.Pro1153=) c.3303G>T (p.Pro1101=) c.3366G>T (p.Pro1122=) c.3375G>T (p.Pro1125=) c.3519G>T (p.Pro1173=) c.*3228G>T (n.*3228G>T) n.2861G>T c.3501G>T (p.Pro1167=) c.3618G>T (p.Pro1206=) c.3540G>T (p.Pro1180=) c.3498G>T (p.Pro1166=) c.3483G>T (p.Pro1161=) c.3453G>T (p.Pro1151=) c.3561G>T (p.Pro1187=) c.3753G>T (p.Pro1251=) c.3699G>T (p.Pro1233=) c.3690G>T (p.Pro1230=) c.3108G>T (p.Pro1036=) c.3552G>T (p.Pro1184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791850C>A | CA375493985 | KCNT1 | c.3556C>A (p.Pro1186Thr) c.3460C>A (p.Pro1154Thr) c.3304C>A (p.Pro1102Thr) c.3367C>A (p.Pro1123Thr) c.3376C>A (p.Pro1126Thr) c.3520C>A (p.Pro1174Thr) c.*3229C>A (n.*3229C>A) n.2862C>A c.3502C>A (p.Pro1168Thr) c.3619C>A (p.Pro1207Thr) c.3541C>A (p.Pro1181Thr) c.3499C>A (p.Pro1167Thr) c.3484C>A (p.Pro1162Thr) c.3454C>A (p.Pro1152Thr) c.3562C>A (p.Pro1188Thr) c.3754C>A (p.Pro1252Thr) c.3700C>A (p.Pro1234Thr) c.3691C>A (p.Pro1231Thr) c.3109C>A (p.Pro1037Thr) c.3553C>A (p.Pro1185Thr) | |
| 9 | g.135791850C= | CA1883892503 | KCNT1 | c.3556C= (p.Pro1186=) c.3460C= (p.Pro1154=) c.3304C= (p.Pro1102=) c.3367C= (p.Pro1123=) c.3376C= (p.Pro1126=) c.3520C= (p.Pro1174=) c.*3229C= (n.*3229C=) n.2862C= c.3502C= (p.Pro1168=) c.3619C= (p.Pro1207=) c.3541C= (p.Pro1181=) c.3499C= (p.Pro1167=) c.3484C= (p.Pro1162=) c.3454C= (p.Pro1152=) c.3562C= (p.Pro1188=) c.3754C= (p.Pro1252=) c.3700C= (p.Pro1234=) c.3691C= (p.Pro1231=) c.3109C= (p.Pro1037=) c.3553C= (p.Pro1185=) | |
| 9 | g.135791850C>G | CA375493991 | KCNT1 | c.3556C>G (p.Pro1186Ala) c.3460C>G (p.Pro1154Ala) c.3304C>G (p.Pro1102Ala) c.3367C>G (p.Pro1123Ala) c.3376C>G (p.Pro1126Ala) c.3520C>G (p.Pro1174Ala) c.*3229C>G (n.*3229C>G) n.2862C>G c.3502C>G (p.Pro1168Ala) c.3619C>G (p.Pro1207Ala) c.3541C>G (p.Pro1181Ala) c.3499C>G (p.Pro1167Ala) c.3484C>G (p.Pro1162Ala) c.3454C>G (p.Pro1152Ala) c.3562C>G (p.Pro1188Ala) c.3754C>G (p.Pro1252Ala) c.3700C>G (p.Pro1234Ala) c.3691C>G (p.Pro1231Ala) c.3109C>G (p.Pro1037Ala) c.3553C>G (p.Pro1185Ala) | |
| 9 | g.135791850C>T | CA5327943 | KCNT1 | c.3556C>T (p.Pro1186Ser) c.3460C>T (p.Pro1154Ser) c.3304C>T (p.Pro1102Ser) c.3367C>T (p.Pro1123Ser) c.3376C>T (p.Pro1126Ser) c.3520C>T (p.Pro1174Ser) c.*3229C>T (n.*3229C>T) n.2862C>T c.3502C>T (p.Pro1168Ser) c.3619C>T (p.Pro1207Ser) c.3541C>T (p.Pro1181Ser) c.3499C>T (p.Pro1167Ser) c.3484C>T (p.Pro1162Ser) c.3454C>T (p.Pro1152Ser) c.3562C>T (p.Pro1188Ser) c.3754C>T (p.Pro1252Ser) c.3700C>T (p.Pro1234Ser) c.3691C>T (p.Pro1231Ser) c.3109C>T (p.Pro1037Ser) c.3553C>T (p.Pro1185Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135791851C>A | CA375493992 | KCNT1 | c.3557C>A (p.Pro1186His) c.3461C>A (p.Pro1154His) c.3305C>A (p.Pro1102His) c.3368C>A (p.Pro1123His) c.3377C>A (p.Pro1126His) c.3521C>A (p.Pro1174His) c.*3230C>A (n.*3230C>A) n.2863C>A c.3503C>A (p.Pro1168His) c.3620C>A (p.Pro1207His) c.3542C>A (p.Pro1181His) c.3500C>A (p.Pro1167His) c.3485C>A (p.Pro1162His) c.3455C>A (p.Pro1152His) c.3563C>A (p.Pro1188His) c.3755C>A (p.Pro1252His) c.3701C>A (p.Pro1234His) c.3692C>A (p.Pro1231His) c.3110C>A (p.Pro1037His) c.3554C>A (p.Pro1185His) | COSMIC |
| 9 | g.135791851C>G | CA375493994 | KCNT1 | c.3557C>G (p.Pro1186Arg) c.3461C>G (p.Pro1154Arg) c.3305C>G (p.Pro1102Arg) c.3368C>G (p.Pro1123Arg) c.3377C>G (p.Pro1126Arg) c.3521C>G (p.Pro1174Arg) c.*3230C>G (n.*3230C>G) n.2863C>G c.3503C>G (p.Pro1168Arg) c.3620C>G (p.Pro1207Arg) c.3542C>G (p.Pro1181Arg) c.3500C>G (p.Pro1167Arg) c.3485C>G (p.Pro1162Arg) c.3455C>G (p.Pro1152Arg) c.3563C>G (p.Pro1188Arg) c.3755C>G (p.Pro1252Arg) c.3701C>G (p.Pro1234Arg) c.3692C>G (p.Pro1231Arg) c.3110C>G (p.Pro1037Arg) c.3554C>G (p.Pro1185Arg) | |
| 9 | g.135791851C>T | CA375493996 | KCNT1 | c.3557C>T (p.Pro1186Leu) c.3461C>T (p.Pro1154Leu) c.3305C>T (p.Pro1102Leu) c.3368C>T (p.Pro1123Leu) c.3377C>T (p.Pro1126Leu) c.3521C>T (p.Pro1174Leu) c.*3230C>T (n.*3230C>T) n.2863C>T c.3503C>T (p.Pro1168Leu) c.3620C>T (p.Pro1207Leu) c.3542C>T (p.Pro1181Leu) c.3500C>T (p.Pro1167Leu) c.3485C>T (p.Pro1162Leu) c.3455C>T (p.Pro1152Leu) c.3563C>T (p.Pro1188Leu) c.3755C>T (p.Pro1252Leu) c.3701C>T (p.Pro1234Leu) c.3692C>T (p.Pro1231Leu) c.3110C>T (p.Pro1037Leu) c.3554C>T (p.Pro1185Leu) | dbSNP |
| 9 | g.135791852C>A | CA5327945 | KCNT1 | c.3558C>A (p.Pro1186=) c.3462C>A (p.Pro1154=) c.3306C>A (p.Pro1102=) c.3369C>A (p.Pro1123=) c.3378C>A (p.Pro1126=) c.3522C>A (p.Pro1174=) c.*3231C>A (n.*3231C>A) n.2864C>A c.3504C>A (p.Pro1168=) c.3621C>A (p.Pro1207=) c.3543C>A (p.Pro1181=) c.3501C>A (p.Pro1167=) c.3486C>A (p.Pro1162=) c.3456C>A (p.Pro1152=) c.3564C>A (p.Pro1188=) c.3756C>A (p.Pro1252=) c.3702C>A (p.Pro1234=) c.3693C>A (p.Pro1231=) c.3111C>A (p.Pro1037=) c.3555C>A (p.Pro1185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791852C= | CA1883892504 | KCNT1 | c.3558C= (p.Pro1186=) c.3462C= (p.Pro1154=) c.3306C= (p.Pro1102=) c.3369C= (p.Pro1123=) c.3378C= (p.Pro1126=) c.3522C= (p.Pro1174=) c.*3231C= (n.*3231C=) n.2864C= c.3504C= (p.Pro1168=) c.3621C= (p.Pro1207=) c.3543C= (p.Pro1181=) c.3501C= (p.Pro1167=) c.3486C= (p.Pro1162=) c.3456C= (p.Pro1152=) c.3564C= (p.Pro1188=) c.3756C= (p.Pro1252=) c.3702C= (p.Pro1234=) c.3693C= (p.Pro1231=) c.3111C= (p.Pro1037=) c.3555C= (p.Pro1185=) | |
| 9 | g.135791852C>G | CA467701210 | KCNT1 | c.3558C>G (p.Pro1186=) c.3462C>G (p.Pro1154=) c.3306C>G (p.Pro1102=) c.3369C>G (p.Pro1123=) c.3378C>G (p.Pro1126=) c.3522C>G (p.Pro1174=) c.*3231C>G (n.*3231C>G) n.2864C>G c.3504C>G (p.Pro1168=) c.3621C>G (p.Pro1207=) c.3543C>G (p.Pro1181=) c.3501C>G (p.Pro1167=) c.3486C>G (p.Pro1162=) c.3456C>G (p.Pro1152=) c.3564C>G (p.Pro1188=) c.3756C>G (p.Pro1252=) c.3702C>G (p.Pro1234=) c.3693C>G (p.Pro1231=) c.3111C>G (p.Pro1037=) c.3555C>G (p.Pro1185=) | dbSNP |
| 9 | g.135791852C>T | CA5327944 | KCNT1 | c.3558C>T (p.Pro1186=) c.3462C>T (p.Pro1154=) c.3306C>T (p.Pro1102=) c.3369C>T (p.Pro1123=) c.3378C>T (p.Pro1126=) c.3522C>T (p.Pro1174=) c.*3231C>T (n.*3231C>T) n.2864C>T c.3504C>T (p.Pro1168=) c.3621C>T (p.Pro1207=) c.3543C>T (p.Pro1181=) c.3501C>T (p.Pro1167=) c.3486C>T (p.Pro1162=) c.3456C>T (p.Pro1152=) c.3564C>T (p.Pro1188=) c.3756C>T (p.Pro1252=) c.3702C>T (p.Pro1234=) c.3693C>T (p.Pro1231=) c.3111C>T (p.Pro1037=) c.3555C>T (p.Pro1185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135791853G>A | CA5327946 | KCNT1 | c.3559G>A (p.Asp1187Asn) c.3463G>A (p.Asp1155Asn) c.3307G>A (p.Asp1103Asn) c.3370G>A (p.Asp1124Asn) c.3379G>A (p.Asp1127Asn) c.3523G>A (p.Asp1175Asn) c.*3232G>A (n.*3232G>A) n.2865G>A c.3505G>A (p.Asp1169Asn) c.3622G>A (p.Asp1208Asn) c.3544G>A (p.Asp1182Asn) c.3502G>A (p.Asp1168Asn) c.3487G>A (p.Asp1163Asn) c.3457G>A (p.Asp1153Asn) c.3565G>A (p.Asp1189Asn) c.3757G>A (p.Asp1253Asn) c.3703G>A (p.Asp1235Asn) c.3694G>A (p.Asp1232Asn) c.3112G>A (p.Asp1038Asn) c.3556G>A (p.Asp1186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791853G>C | CA5327948 | KCNT1 | c.3559G>C (p.Asp1187His) c.3463G>C (p.Asp1155His) c.3307G>C (p.Asp1103His) c.3370G>C (p.Asp1124His) c.3379G>C (p.Asp1127His) c.3523G>C (p.Asp1175His) c.*3232G>C (n.*3232G>C) n.2865G>C c.3505G>C (p.Asp1169His) c.3622G>C (p.Asp1208His) c.3544G>C (p.Asp1182His) c.3502G>C (p.Asp1168His) c.3487G>C (p.Asp1163His) c.3457G>C (p.Asp1153His) c.3565G>C (p.Asp1189His) c.3757G>C (p.Asp1253His) c.3703G>C (p.Asp1235His) c.3694G>C (p.Asp1232His) c.3112G>C (p.Asp1038His) c.3556G>C (p.Asp1186His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791853G= | CA1883892505 | KCNT1 | c.3559G= (p.Asp1187=) c.3463G= (p.Asp1155=) c.3307G= (p.Asp1103=) c.3370G= (p.Asp1124=) c.3379G= (p.Asp1127=) c.3523G= (p.Asp1175=) c.*3232G= (n.*3232G=) n.2865G= c.3505G= (p.Asp1169=) c.3622G= (p.Asp1208=) c.3544G= (p.Asp1182=) c.3502G= (p.Asp1168=) c.3487G= (p.Asp1163=) c.3457G= (p.Asp1153=) c.3565G= (p.Asp1189=) c.3757G= (p.Asp1253=) c.3703G= (p.Asp1235=) c.3694G= (p.Asp1232=) c.3112G= (p.Asp1038=) c.3556G= (p.Asp1186=) | |
| 9 | g.135791853G>T | CA5327947 | KCNT1 | c.3559G>T (p.Asp1187Tyr) c.3463G>T (p.Asp1155Tyr) c.3307G>T (p.Asp1103Tyr) c.3370G>T (p.Asp1124Tyr) c.3379G>T (p.Asp1127Tyr) c.3523G>T (p.Asp1175Tyr) c.*3232G>T (n.*3232G>T) n.2865G>T c.3505G>T (p.Asp1169Tyr) c.3622G>T (p.Asp1208Tyr) c.3544G>T (p.Asp1182Tyr) c.3502G>T (p.Asp1168Tyr) c.3487G>T (p.Asp1163Tyr) c.3457G>T (p.Asp1153Tyr) c.3565G>T (p.Asp1189Tyr) c.3757G>T (p.Asp1253Tyr) c.3703G>T (p.Asp1235Tyr) c.3694G>T (p.Asp1232Tyr) c.3112G>T (p.Asp1038Tyr) c.3556G>T (p.Asp1186Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791854A>C | CA375494003 | KCNT1 | c.3560A>C (p.Asp1187Ala) c.3464A>C (p.Asp1155Ala) c.3308A>C (p.Asp1103Ala) c.3371A>C (p.Asp1124Ala) c.3380A>C (p.Asp1127Ala) c.3524A>C (p.Asp1175Ala) c.*3233A>C (n.*3233A>C) n.2866A>C c.3506A>C (p.Asp1169Ala) c.3623A>C (p.Asp1208Ala) c.3545A>C (p.Asp1182Ala) c.3503A>C (p.Asp1168Ala) c.3488A>C (p.Asp1163Ala) c.3458A>C (p.Asp1153Ala) c.3566A>C (p.Asp1189Ala) c.3758A>C (p.Asp1253Ala) c.3704A>C (p.Asp1235Ala) c.3695A>C (p.Asp1232Ala) c.3113A>C (p.Asp1038Ala) c.3557A>C (p.Asp1186Ala) | gnomAD v4 |
| 9 | g.135791854A>G | CA375494005 | KCNT1 | c.3560A>G (p.Asp1187Gly) c.3464A>G (p.Asp1155Gly) c.3308A>G (p.Asp1103Gly) c.3371A>G (p.Asp1124Gly) c.3380A>G (p.Asp1127Gly) c.3524A>G (p.Asp1175Gly) c.*3233A>G (n.*3233A>G) n.2866A>G c.3506A>G (p.Asp1169Gly) c.3623A>G (p.Asp1208Gly) c.3545A>G (p.Asp1182Gly) c.3503A>G (p.Asp1168Gly) c.3488A>G (p.Asp1163Gly) c.3458A>G (p.Asp1153Gly) c.3566A>G (p.Asp1189Gly) c.3758A>G (p.Asp1253Gly) c.3704A>G (p.Asp1235Gly) c.3695A>G (p.Asp1232Gly) c.3113A>G (p.Asp1038Gly) c.3557A>G (p.Asp1186Gly) | |
| 9 | g.135791854A>T | CA375494007 | KCNT1 | c.3560A>T (p.Asp1187Val) c.3464A>T (p.Asp1155Val) c.3308A>T (p.Asp1103Val) c.3371A>T (p.Asp1124Val) c.3380A>T (p.Asp1127Val) c.3524A>T (p.Asp1175Val) c.*3233A>T (n.*3233A>T) n.2866A>T c.3506A>T (p.Asp1169Val) c.3623A>T (p.Asp1208Val) c.3545A>T (p.Asp1182Val) c.3503A>T (p.Asp1168Val) c.3488A>T (p.Asp1163Val) c.3458A>T (p.Asp1153Val) c.3566A>T (p.Asp1189Val) c.3758A>T (p.Asp1253Val) c.3704A>T (p.Asp1235Val) c.3695A>T (p.Asp1232Val) c.3113A>T (p.Asp1038Val) c.3557A>T (p.Asp1186Val) | |
| 9 | g.135791855C>A | CA375494009 | KCNT1 | c.3561C>A (p.Asp1187Glu) c.3465C>A (p.Asp1155Glu) c.3309C>A (p.Asp1103Glu) c.3372C>A (p.Asp1124Glu) c.3381C>A (p.Asp1127Glu) c.3525C>A (p.Asp1175Glu) c.*3234C>A (n.*3234C>A) n.2867C>A c.3507C>A (p.Asp1169Glu) c.3624C>A (p.Asp1208Glu) c.3546C>A (p.Asp1182Glu) c.3504C>A (p.Asp1168Glu) c.3489C>A (p.Asp1163Glu) c.3459C>A (p.Asp1153Glu) c.3567C>A (p.Asp1189Glu) c.3759C>A (p.Asp1253Glu) c.3705C>A (p.Asp1235Glu) c.3696C>A (p.Asp1232Glu) c.3114C>A (p.Asp1038Glu) c.3558C>A (p.Asp1186Glu) | ClinVar dbSNP |
| 9 | g.135791855C= | CA1883892506 | KCNT1 | c.3561C= (p.Asp1187=) c.3465C= (p.Asp1155=) c.3309C= (p.Asp1103=) c.3372C= (p.Asp1124=) c.3381C= (p.Asp1127=) c.3525C= (p.Asp1175=) c.*3234C= (n.*3234C=) n.2867C= c.3507C= (p.Asp1169=) c.3624C= (p.Asp1208=) c.3546C= (p.Asp1182=) c.3504C= (p.Asp1168=) c.3489C= (p.Asp1163=) c.3459C= (p.Asp1153=) c.3567C= (p.Asp1189=) c.3759C= (p.Asp1253=) c.3705C= (p.Asp1235=) c.3696C= (p.Asp1232=) c.3114C= (p.Asp1038=) c.3558C= (p.Asp1186=) | |
| 9 | g.135791855C>G | CA375494011 | KCNT1 | c.3561C>G (p.Asp1187Glu) c.3465C>G (p.Asp1155Glu) c.3309C>G (p.Asp1103Glu) c.3372C>G (p.Asp1124Glu) c.3381C>G (p.Asp1127Glu) c.3525C>G (p.Asp1175Glu) c.*3234C>G (n.*3234C>G) n.2867C>G c.3507C>G (p.Asp1169Glu) c.3624C>G (p.Asp1208Glu) c.3546C>G (p.Asp1182Glu) c.3504C>G (p.Asp1168Glu) c.3489C>G (p.Asp1163Glu) c.3459C>G (p.Asp1153Glu) c.3567C>G (p.Asp1189Glu) c.3759C>G (p.Asp1253Glu) c.3705C>G (p.Asp1235Glu) c.3696C>G (p.Asp1232Glu) c.3114C>G (p.Asp1038Glu) c.3558C>G (p.Asp1186Glu) | |
| 9 | g.135791855C>T | CA16605769 | KCNT1 | c.3561C>T (p.Asp1187=) c.3465C>T (p.Asp1155=) c.3309C>T (p.Asp1103=) c.3372C>T (p.Asp1124=) c.3381C>T (p.Asp1127=) c.3525C>T (p.Asp1175=) c.*3234C>T (n.*3234C>T) n.2867C>T c.3507C>T (p.Asp1169=) c.3624C>T (p.Asp1208=) c.3546C>T (p.Asp1182=) c.3504C>T (p.Asp1168=) c.3489C>T (p.Asp1163=) c.3459C>T (p.Asp1153=) c.3567C>T (p.Asp1189=) c.3759C>T (p.Asp1253=) c.3705C>T (p.Asp1235=) c.3696C>T (p.Asp1232=) c.3114C>T (p.Asp1038=) c.3558C>T (p.Asp1186=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791856A= | CA1883892507 | KCNT1 | c.3562A= (p.Thr1188=) c.3466A= (p.Thr1156=) c.3310A= (p.Thr1104=) c.3373A= (p.Thr1125=) c.3382A= (p.Thr1128=) c.3526A= (p.Thr1176=) c.*3235A= (n.*3235A=) n.2868A= c.3508A= (p.Thr1170=) c.3625A= (p.Thr1209=) c.3547A= (p.Thr1183=) c.3505A= (p.Thr1169=) c.3490A= (p.Thr1164=) c.3460A= (p.Thr1154=) c.3568A= (p.Thr1190=) c.3760A= (p.Thr1254=) c.3706A= (p.Thr1236=) c.3697A= (p.Thr1233=) c.3115A= (p.Thr1039=) c.3559A= (p.Thr1187=) | |
| 9 | g.135791856A>C | CA375494013 | KCNT1 | c.3562A>C (p.Thr1188Pro) c.3466A>C (p.Thr1156Pro) c.3310A>C (p.Thr1104Pro) c.3373A>C (p.Thr1125Pro) c.3382A>C (p.Thr1128Pro) c.3526A>C (p.Thr1176Pro) c.*3235A>C (n.*3235A>C) n.2868A>C c.3508A>C (p.Thr1170Pro) c.3625A>C (p.Thr1209Pro) c.3547A>C (p.Thr1183Pro) c.3505A>C (p.Thr1169Pro) c.3490A>C (p.Thr1164Pro) c.3460A>C (p.Thr1154Pro) c.3568A>C (p.Thr1190Pro) c.3760A>C (p.Thr1254Pro) c.3706A>C (p.Thr1236Pro) c.3697A>C (p.Thr1233Pro) c.3115A>C (p.Thr1039Pro) c.3559A>C (p.Thr1187Pro) | |
| 9 | g.135791856A>G | CA201431472 | KCNT1 | c.3562A>G (p.Thr1188Ala) c.3466A>G (p.Thr1156Ala) c.3310A>G (p.Thr1104Ala) c.3373A>G (p.Thr1125Ala) c.3382A>G (p.Thr1128Ala) c.3526A>G (p.Thr1176Ala) c.*3235A>G (n.*3235A>G) n.2868A>G c.3508A>G (p.Thr1170Ala) c.3625A>G (p.Thr1209Ala) c.3547A>G (p.Thr1183Ala) c.3505A>G (p.Thr1169Ala) c.3490A>G (p.Thr1164Ala) c.3460A>G (p.Thr1154Ala) c.3568A>G (p.Thr1190Ala) c.3760A>G (p.Thr1254Ala) c.3706A>G (p.Thr1236Ala) c.3697A>G (p.Thr1233Ala) c.3115A>G (p.Thr1039Ala) c.3559A>G (p.Thr1187Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791856A>T | CA375494016 | KCNT1 | c.3562A>T (p.Thr1188Ser) c.3466A>T (p.Thr1156Ser) c.3310A>T (p.Thr1104Ser) c.3373A>T (p.Thr1125Ser) c.3382A>T (p.Thr1128Ser) c.3526A>T (p.Thr1176Ser) c.*3235A>T (n.*3235A>T) n.2868A>T c.3508A>T (p.Thr1170Ser) c.3625A>T (p.Thr1209Ser) c.3547A>T (p.Thr1183Ser) c.3505A>T (p.Thr1169Ser) c.3490A>T (p.Thr1164Ser) c.3460A>T (p.Thr1154Ser) c.3568A>T (p.Thr1190Ser) c.3760A>T (p.Thr1254Ser) c.3706A>T (p.Thr1236Ser) c.3697A>T (p.Thr1233Ser) c.3115A>T (p.Thr1039Ser) c.3559A>T (p.Thr1187Ser) | |
| 9 | g.135791857C>A | CA375494018 | KCNT1 | c.3563C>A (p.Thr1188Lys) c.3467C>A (p.Thr1156Lys) c.3311C>A (p.Thr1104Lys) c.3374C>A (p.Thr1125Lys) c.3383C>A (p.Thr1128Lys) c.3527C>A (p.Thr1176Lys) c.*3236C>A (n.*3236C>A) n.2869C>A c.3509C>A (p.Thr1170Lys) c.3626C>A (p.Thr1209Lys) c.3548C>A (p.Thr1183Lys) c.3506C>A (p.Thr1169Lys) c.3491C>A (p.Thr1164Lys) c.3461C>A (p.Thr1154Lys) c.3569C>A (p.Thr1190Lys) c.3761C>A (p.Thr1254Lys) c.3707C>A (p.Thr1236Lys) c.3698C>A (p.Thr1233Lys) c.3116C>A (p.Thr1039Lys) c.3560C>A (p.Thr1187Lys) | |
| 9 | g.135791857C= | CA1883892508 | KCNT1 | c.3563C= (p.Thr1188=) c.3467C= (p.Thr1156=) c.3311C= (p.Thr1104=) c.3374C= (p.Thr1125=) c.3383C= (p.Thr1128=) c.3527C= (p.Thr1176=) c.*3236C= (n.*3236C=) n.2869C= c.3509C= (p.Thr1170=) c.3626C= (p.Thr1209=) c.3548C= (p.Thr1183=) c.3506C= (p.Thr1169=) c.3491C= (p.Thr1164=) c.3461C= (p.Thr1154=) c.3569C= (p.Thr1190=) c.3761C= (p.Thr1254=) c.3707C= (p.Thr1236=) c.3698C= (p.Thr1233=) c.3116C= (p.Thr1039=) c.3560C= (p.Thr1187=) | |
| 9 | g.135791857C>G | CA375494020 | KCNT1 | c.3563C>G (p.Thr1188Arg) c.3467C>G (p.Thr1156Arg) c.3311C>G (p.Thr1104Arg) c.3374C>G (p.Thr1125Arg) c.3383C>G (p.Thr1128Arg) c.3527C>G (p.Thr1176Arg) c.*3236C>G (n.*3236C>G) n.2869C>G c.3509C>G (p.Thr1170Arg) c.3626C>G (p.Thr1209Arg) c.3548C>G (p.Thr1183Arg) c.3506C>G (p.Thr1169Arg) c.3491C>G (p.Thr1164Arg) c.3461C>G (p.Thr1154Arg) c.3569C>G (p.Thr1190Arg) c.3761C>G (p.Thr1254Arg) c.3707C>G (p.Thr1236Arg) c.3698C>G (p.Thr1233Arg) c.3116C>G (p.Thr1039Arg) c.3560C>G (p.Thr1187Arg) | |
| 9 | g.135791857C>T | CA5327949 | KCNT1 | c.3563C>T (p.Thr1188Met) c.3467C>T (p.Thr1156Met) c.3311C>T (p.Thr1104Met) c.3374C>T (p.Thr1125Met) c.3383C>T (p.Thr1128Met) c.3527C>T (p.Thr1176Met) c.*3236C>T (n.*3236C>T) n.2869C>T c.3509C>T (p.Thr1170Met) c.3626C>T (p.Thr1209Met) c.3548C>T (p.Thr1183Met) c.3506C>T (p.Thr1169Met) c.3491C>T (p.Thr1164Met) c.3461C>T (p.Thr1154Met) c.3569C>T (p.Thr1190Met) c.3761C>T (p.Thr1254Met) c.3707C>T (p.Thr1236Met) c.3698C>T (p.Thr1233Met) c.3116C>T (p.Thr1039Met) c.3560C>T (p.Thr1187Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791858G>A | CA5327950 | KCNT1 | c.3564G>A (p.Thr1188=) c.3468G>A (p.Thr1156=) c.3312G>A (p.Thr1104=) c.3375G>A (p.Thr1125=) c.3384G>A (p.Thr1128=) c.3528G>A (p.Thr1176=) c.*3237G>A (n.*3237G>A) n.2870G>A c.3510G>A (p.Thr1170=) c.3627G>A (p.Thr1209=) c.3549G>A (p.Thr1183=) c.3507G>A (p.Thr1169=) c.3492G>A (p.Thr1164=) c.3462G>A (p.Thr1154=) c.3570G>A (p.Thr1190=) c.3762G>A (p.Thr1254=) c.3708G>A (p.Thr1236=) c.3699G>A (p.Thr1233=) c.3117G>A (p.Thr1039=) c.3561G>A (p.Thr1187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791858G>C | CA467701212 | KCNT1 | c.3564G>C (p.Thr1188=) c.3468G>C (p.Thr1156=) c.3312G>C (p.Thr1104=) c.3375G>C (p.Thr1125=) c.3384G>C (p.Thr1128=) c.3528G>C (p.Thr1176=) c.*3237G>C (n.*3237G>C) n.2870G>C c.3510G>C (p.Thr1170=) c.3627G>C (p.Thr1209=) c.3549G>C (p.Thr1183=) c.3507G>C (p.Thr1169=) c.3492G>C (p.Thr1164=) c.3462G>C (p.Thr1154=) c.3570G>C (p.Thr1190=) c.3762G>C (p.Thr1254=) c.3708G>C (p.Thr1236=) c.3699G>C (p.Thr1233=) c.3117G>C (p.Thr1039=) c.3561G>C (p.Thr1187=) | ClinVar dbSNP |
| 9 | g.135791858G= | CA1883892509 | KCNT1 | c.3564G= (p.Thr1188=) c.3468G= (p.Thr1156=) c.3312G= (p.Thr1104=) c.3375G= (p.Thr1125=) c.3384G= (p.Thr1128=) c.3528G= (p.Thr1176=) c.*3237G= (n.*3237G=) n.2870G= c.3510G= (p.Thr1170=) c.3627G= (p.Thr1209=) c.3549G= (p.Thr1183=) c.3507G= (p.Thr1169=) c.3492G= (p.Thr1164=) c.3462G= (p.Thr1154=) c.3570G= (p.Thr1190=) c.3762G= (p.Thr1254=) c.3708G= (p.Thr1236=) c.3699G= (p.Thr1233=) c.3117G= (p.Thr1039=) c.3561G= (p.Thr1187=) | |
| 9 | g.135791858G>T | CA467701213 | KCNT1 | c.3564G>T (p.Thr1188=) c.3468G>T (p.Thr1156=) c.3312G>T (p.Thr1104=) c.3375G>T (p.Thr1125=) c.3384G>T (p.Thr1128=) c.3528G>T (p.Thr1176=) c.*3237G>T (n.*3237G>T) n.2870G>T c.3510G>T (p.Thr1170=) c.3627G>T (p.Thr1209=) c.3549G>T (p.Thr1183=) c.3507G>T (p.Thr1169=) c.3492G>T (p.Thr1164=) c.3462G>T (p.Thr1154=) c.3570G>T (p.Thr1190=) c.3762G>T (p.Thr1254=) c.3708G>T (p.Thr1236=) c.3699G>T (p.Thr1233=) c.3117G>T (p.Thr1039=) c.3561G>T (p.Thr1187=) | ClinVar |
| 9 | g.135791859A>C | CA467701214 | KCNT1 | c.3565A>C (p.Arg1189=) c.3469A>C (p.Arg1157=) c.3313A>C (p.Arg1105=) c.3376A>C (p.Arg1126=) c.3385A>C (p.Arg1129=) c.3529A>C (p.Arg1177=) c.*3238A>C (n.*3238A>C) n.2871A>C c.3511A>C (p.Arg1171=) c.3628A>C (p.Arg1210=) c.3550A>C (p.Arg1184=) c.3508A>C (p.Arg1170=) c.3493A>C (p.Arg1165=) c.3463A>C (p.Arg1155=) c.3571A>C (p.Arg1191=) c.3763A>C (p.Arg1255=) c.3709A>C (p.Arg1237=) c.3700A>C (p.Arg1234=) c.3118A>C (p.Arg1040=) c.3562A>C (p.Arg1188=) | |
| 9 | g.135791859A>G | CA375494025 | KCNT1 | c.3565A>G (p.Arg1189Gly) c.3469A>G (p.Arg1157Gly) c.3313A>G (p.Arg1105Gly) c.3376A>G (p.Arg1126Gly) c.3385A>G (p.Arg1129Gly) c.3529A>G (p.Arg1177Gly) c.*3238A>G (n.*3238A>G) n.2871A>G c.3511A>G (p.Arg1171Gly) c.3628A>G (p.Arg1210Gly) c.3550A>G (p.Arg1184Gly) c.3508A>G (p.Arg1170Gly) c.3493A>G (p.Arg1165Gly) c.3463A>G (p.Arg1155Gly) c.3571A>G (p.Arg1191Gly) c.3763A>G (p.Arg1255Gly) c.3709A>G (p.Arg1237Gly) c.3700A>G (p.Arg1234Gly) c.3118A>G (p.Arg1040Gly) c.3562A>G (p.Arg1188Gly) | |
| 9 | g.135791859A>T | CA375494027 | KCNT1 | c.3565A>T (p.Arg1189Trp) c.3469A>T (p.Arg1157Trp) c.3313A>T (p.Arg1105Trp) c.3376A>T (p.Arg1126Trp) c.3385A>T (p.Arg1129Trp) c.3529A>T (p.Arg1177Trp) c.*3238A>T (n.*3238A>T) n.2871A>T c.3511A>T (p.Arg1171Trp) c.3628A>T (p.Arg1210Trp) c.3550A>T (p.Arg1184Trp) c.3508A>T (p.Arg1170Trp) c.3493A>T (p.Arg1165Trp) c.3463A>T (p.Arg1155Trp) c.3571A>T (p.Arg1191Trp) c.3763A>T (p.Arg1255Trp) c.3709A>T (p.Arg1237Trp) c.3700A>T (p.Arg1234Trp) c.3118A>T (p.Arg1040Trp) c.3562A>T (p.Arg1188Trp) | |
| 9 | g.135791860G>A | CA375494029 | KCNT1 | c.3566G>A (p.Arg1189Lys) c.3470G>A (p.Arg1157Lys) c.3314G>A (p.Arg1105Lys) c.3377G>A (p.Arg1126Lys) c.3386G>A (p.Arg1129Lys) c.3530G>A (p.Arg1177Lys) c.*3239G>A (n.*3239G>A) n.2872G>A c.3512G>A (p.Arg1171Lys) c.3629G>A (p.Arg1210Lys) c.3551G>A (p.Arg1184Lys) c.3509G>A (p.Arg1170Lys) c.3494G>A (p.Arg1165Lys) c.3464G>A (p.Arg1155Lys) c.3572G>A (p.Arg1191Lys) c.3764G>A (p.Arg1255Lys) c.3710G>A (p.Arg1237Lys) c.3701G>A (p.Arg1234Lys) c.3119G>A (p.Arg1040Lys) c.3563G>A (p.Arg1188Lys) | |
| 9 | g.135791860G>C | CA375494031 | KCNT1 | c.3566G>C (p.Arg1189Thr) c.3470G>C (p.Arg1157Thr) c.3314G>C (p.Arg1105Thr) c.3377G>C (p.Arg1126Thr) c.3386G>C (p.Arg1129Thr) c.3530G>C (p.Arg1177Thr) c.*3239G>C (n.*3239G>C) n.2872G>C c.3512G>C (p.Arg1171Thr) c.3629G>C (p.Arg1210Thr) c.3551G>C (p.Arg1184Thr) c.3509G>C (p.Arg1170Thr) c.3494G>C (p.Arg1165Thr) c.3464G>C (p.Arg1155Thr) c.3572G>C (p.Arg1191Thr) c.3764G>C (p.Arg1255Thr) c.3710G>C (p.Arg1237Thr) c.3701G>C (p.Arg1234Thr) c.3119G>C (p.Arg1040Thr) c.3563G>C (p.Arg1188Thr) | |
| 9 | g.135791860G>T | CA375494033 | KCNT1 | c.3566G>T (p.Arg1189Met) c.3470G>T (p.Arg1157Met) c.3314G>T (p.Arg1105Met) c.3377G>T (p.Arg1126Met) c.3386G>T (p.Arg1129Met) c.3530G>T (p.Arg1177Met) c.*3239G>T (n.*3239G>T) n.2872G>T c.3512G>T (p.Arg1171Met) c.3629G>T (p.Arg1210Met) c.3551G>T (p.Arg1184Met) c.3509G>T (p.Arg1170Met) c.3494G>T (p.Arg1165Met) c.3464G>T (p.Arg1155Met) c.3572G>T (p.Arg1191Met) c.3764G>T (p.Arg1255Met) c.3710G>T (p.Arg1237Met) c.3701G>T (p.Arg1234Met) c.3119G>T (p.Arg1040Met) c.3563G>T (p.Arg1188Met) | |
| 9 | g.135791861G>A | CA467701215 | KCNT1 | c.3567G>A (p.Arg1189=) c.3471G>A (p.Arg1157=) c.3315G>A (p.Arg1105=) c.3378G>A (p.Arg1126=) c.3387G>A (p.Arg1129=) c.3531G>A (p.Arg1177=) c.*3240G>A (n.*3240G>A) n.2873G>A c.3513G>A (p.Arg1171=) c.3630G>A (p.Arg1210=) c.3552G>A (p.Arg1184=) c.3510G>A (p.Arg1170=) c.3495G>A (p.Arg1165=) c.3465G>A (p.Arg1155=) c.3573G>A (p.Arg1191=) c.3765G>A (p.Arg1255=) c.3711G>A (p.Arg1237=) c.3702G>A (p.Arg1234=) c.3120G>A (p.Arg1040=) c.3564G>A (p.Arg1188=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135791861G>C | CA375494034 | KCNT1 | c.3567G>C (p.Arg1189Ser) c.3471G>C (p.Arg1157Ser) c.3315G>C (p.Arg1105Ser) c.3378G>C (p.Arg1126Ser) c.3387G>C (p.Arg1129Ser) c.3531G>C (p.Arg1177Ser) c.*3240G>C (n.*3240G>C) n.2873G>C c.3513G>C (p.Arg1171Ser) c.3630G>C (p.Arg1210Ser) c.3552G>C (p.Arg1184Ser) c.3510G>C (p.Arg1170Ser) c.3495G>C (p.Arg1165Ser) c.3465G>C (p.Arg1155Ser) c.3573G>C (p.Arg1191Ser) c.3765G>C (p.Arg1255Ser) c.3711G>C (p.Arg1237Ser) c.3702G>C (p.Arg1234Ser) c.3120G>C (p.Arg1040Ser) c.3564G>C (p.Arg1188Ser) | |
| 9 | g.135791861G>T | CA375494035 | KCNT1 | c.3567G>T (p.Arg1189Ser) c.3471G>T (p.Arg1157Ser) c.3315G>T (p.Arg1105Ser) c.3378G>T (p.Arg1126Ser) c.3387G>T (p.Arg1129Ser) c.3531G>T (p.Arg1177Ser) c.*3240G>T (n.*3240G>T) n.2873G>T c.3513G>T (p.Arg1171Ser) c.3630G>T (p.Arg1210Ser) c.3552G>T (p.Arg1184Ser) c.3510G>T (p.Arg1170Ser) c.3495G>T (p.Arg1165Ser) c.3465G>T (p.Arg1155Ser) c.3573G>T (p.Arg1191Ser) c.3765G>T (p.Arg1255Ser) c.3711G>T (p.Arg1237Ser) c.3702G>T (p.Arg1234Ser) c.3120G>T (p.Arg1040Ser) c.3564G>T (p.Arg1188Ser) | |
| 9 | g.135791862C>A | CA375494037 | KCNT1 | c.3568C>A (p.Leu1190Met) c.3472C>A (p.Leu1158Met) c.3316C>A (p.Leu1106Met) c.3379C>A (p.Leu1127Met) c.3388C>A (p.Leu1130Met) c.3532C>A (p.Leu1178Met) c.*3241C>A (n.*3241C>A) n.2874C>A c.3514C>A (p.Leu1172Met) c.3631C>A (p.Leu1211Met) c.3553C>A (p.Leu1185Met) c.3511C>A (p.Leu1171Met) c.3496C>A (p.Leu1166Met) c.3466C>A (p.Leu1156Met) c.3574C>A (p.Leu1192Met) c.3766C>A (p.Leu1256Met) c.3712C>A (p.Leu1238Met) c.3703C>A (p.Leu1235Met) c.3121C>A (p.Leu1041Met) c.3565C>A (p.Leu1189Met) | |
| 9 | g.135791862C>G | CA375494039 | KCNT1 | c.3568C>G (p.Leu1190Val) c.3472C>G (p.Leu1158Val) c.3316C>G (p.Leu1106Val) c.3379C>G (p.Leu1127Val) c.3388C>G (p.Leu1130Val) c.3532C>G (p.Leu1178Val) c.*3241C>G (n.*3241C>G) n.2874C>G c.3514C>G (p.Leu1172Val) c.3631C>G (p.Leu1211Val) c.3553C>G (p.Leu1185Val) c.3511C>G (p.Leu1171Val) c.3496C>G (p.Leu1166Val) c.3466C>G (p.Leu1156Val) c.3574C>G (p.Leu1192Val) c.3766C>G (p.Leu1256Val) c.3712C>G (p.Leu1238Val) c.3703C>G (p.Leu1235Val) c.3121C>G (p.Leu1041Val) c.3565C>G (p.Leu1189Val) | |
| 9 | g.135791862C>T | CA467701216 | KCNT1 | c.3568C>T (p.Leu1190=) c.3472C>T (p.Leu1158=) c.3316C>T (p.Leu1106=) c.3379C>T (p.Leu1127=) c.3388C>T (p.Leu1130=) c.3532C>T (p.Leu1178=) c.*3241C>T (n.*3241C>T) n.2874C>T c.3514C>T (p.Leu1172=) c.3631C>T (p.Leu1211=) c.3553C>T (p.Leu1185=) c.3511C>T (p.Leu1171=) c.3496C>T (p.Leu1166=) c.3466C>T (p.Leu1156=) c.3574C>T (p.Leu1192=) c.3766C>T (p.Leu1256=) c.3712C>T (p.Leu1238=) c.3703C>T (p.Leu1235=) c.3121C>T (p.Leu1041=) c.3565C>T (p.Leu1189=) | |
| 9 | g.135791863T>A | CA375494041 | KCNT1 | c.3569T>A (p.Leu1190Gln) c.3473T>A (p.Leu1158Gln) c.3317T>A (p.Leu1106Gln) c.3380T>A (p.Leu1127Gln) c.3389T>A (p.Leu1130Gln) c.3533T>A (p.Leu1178Gln) c.*3242T>A (n.*3242T>A) n.2875T>A c.3515T>A (p.Leu1172Gln) c.3632T>A (p.Leu1211Gln) c.3554T>A (p.Leu1185Gln) c.3512T>A (p.Leu1171Gln) c.3497T>A (p.Leu1166Gln) c.3467T>A (p.Leu1156Gln) c.3575T>A (p.Leu1192Gln) c.3767T>A (p.Leu1256Gln) c.3713T>A (p.Leu1238Gln) c.3704T>A (p.Leu1235Gln) c.3122T>A (p.Leu1041Gln) c.3566T>A (p.Leu1189Gln) | |
| 9 | g.135791863T>C | CA375494042 | KCNT1 | c.3569T>C (p.Leu1190Pro) c.3473T>C (p.Leu1158Pro) c.3317T>C (p.Leu1106Pro) c.3380T>C (p.Leu1127Pro) c.3389T>C (p.Leu1130Pro) c.3533T>C (p.Leu1178Pro) c.*3242T>C (n.*3242T>C) n.2875T>C c.3515T>C (p.Leu1172Pro) c.3632T>C (p.Leu1211Pro) c.3554T>C (p.Leu1185Pro) c.3512T>C (p.Leu1171Pro) c.3497T>C (p.Leu1166Pro) c.3467T>C (p.Leu1156Pro) c.3575T>C (p.Leu1192Pro) c.3767T>C (p.Leu1256Pro) c.3713T>C (p.Leu1238Pro) c.3704T>C (p.Leu1235Pro) c.3122T>C (p.Leu1041Pro) c.3566T>C (p.Leu1189Pro) | |
| 9 | g.135791863T>G | CA375494044 | KCNT1 | c.3569T>G (p.Leu1190Arg) c.3473T>G (p.Leu1158Arg) c.3317T>G (p.Leu1106Arg) c.3380T>G (p.Leu1127Arg) c.3389T>G (p.Leu1130Arg) c.3533T>G (p.Leu1178Arg) c.*3242T>G (n.*3242T>G) n.2875T>G c.3515T>G (p.Leu1172Arg) c.3632T>G (p.Leu1211Arg) c.3554T>G (p.Leu1185Arg) c.3512T>G (p.Leu1171Arg) c.3497T>G (p.Leu1166Arg) c.3467T>G (p.Leu1156Arg) c.3575T>G (p.Leu1192Arg) c.3767T>G (p.Leu1256Arg) c.3713T>G (p.Leu1238Arg) c.3704T>G (p.Leu1235Arg) c.3122T>G (p.Leu1041Arg) c.3566T>G (p.Leu1189Arg) | |
| 9 | g.135791864G>A | CA467701218 | KCNT1 | c.3570G>A (p.Leu1190=) c.3474G>A (p.Leu1158=) c.3318G>A (p.Leu1106=) c.3381G>A (p.Leu1127=) c.3390G>A (p.Leu1130=) c.3534G>A (p.Leu1178=) c.*3243G>A (n.*3243G>A) n.2876G>A c.3516G>A (p.Leu1172=) c.3633G>A (p.Leu1211=) c.3555G>A (p.Leu1185=) c.3513G>A (p.Leu1171=) c.3498G>A (p.Leu1166=) c.3468G>A (p.Leu1156=) c.3576G>A (p.Leu1192=) c.3768G>A (p.Leu1256=) c.3714G>A (p.Leu1238=) c.3705G>A (p.Leu1235=) c.3123G>A (p.Leu1041=) c.3567G>A (p.Leu1189=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135791864G>C | CA467701219 | KCNT1 | c.3570G>C (p.Leu1190=) c.3474G>C (p.Leu1158=) c.3318G>C (p.Leu1106=) c.3381G>C (p.Leu1127=) c.3390G>C (p.Leu1130=) c.3534G>C (p.Leu1178=) c.*3243G>C (n.*3243G>C) n.2876G>C c.3516G>C (p.Leu1172=) c.3633G>C (p.Leu1211=) c.3555G>C (p.Leu1185=) c.3513G>C (p.Leu1171=) c.3498G>C (p.Leu1166=) c.3468G>C (p.Leu1156=) c.3576G>C (p.Leu1192=) c.3768G>C (p.Leu1256=) c.3714G>C (p.Leu1238=) c.3705G>C (p.Leu1235=) c.3123G>C (p.Leu1041=) c.3567G>C (p.Leu1189=) | |
| 9 | g.135791864G= | CA1883892510 | KCNT1 | c.3570G= (p.Leu1190=) c.3474G= (p.Leu1158=) c.3318G= (p.Leu1106=) c.3381G= (p.Leu1127=) c.3390G= (p.Leu1130=) c.3534G= (p.Leu1178=) c.*3243G= (n.*3243G=) n.2876G= c.3516G= (p.Leu1172=) c.3633G= (p.Leu1211=) c.3555G= (p.Leu1185=) c.3513G= (p.Leu1171=) c.3498G= (p.Leu1166=) c.3468G= (p.Leu1156=) c.3576G= (p.Leu1192=) c.3768G= (p.Leu1256=) c.3714G= (p.Leu1238=) c.3705G= (p.Leu1235=) c.3123G= (p.Leu1041=) c.3567G= (p.Leu1189=) | |
| 9 | g.135791864G>T | CA467701220 | KCNT1 | c.3570G>T (p.Leu1190=) c.3474G>T (p.Leu1158=) c.3318G>T (p.Leu1106=) c.3381G>T (p.Leu1127=) c.3390G>T (p.Leu1130=) c.3534G>T (p.Leu1178=) c.*3243G>T (n.*3243G>T) n.2876G>T c.3516G>T (p.Leu1172=) c.3633G>T (p.Leu1211=) c.3555G>T (p.Leu1185=) c.3513G>T (p.Leu1171=) c.3498G>T (p.Leu1166=) c.3468G>T (p.Leu1156=) c.3576G>T (p.Leu1192=) c.3768G>T (p.Leu1256=) c.3714G>T (p.Leu1238=) c.3705G>T (p.Leu1235=) c.3123G>T (p.Leu1041=) c.3567G>T (p.Leu1189=) | |
| 9 | g.135791865G>A | CA375494046 | KCNT1 | c.3571G>A (p.Glu1191Lys) c.3475G>A (p.Glu1159Lys) c.3319G>A (p.Glu1107Lys) c.3382G>A (p.Glu1128Lys) c.3391G>A (p.Glu1131Lys) c.3535G>A (p.Glu1179Lys) c.*3244G>A (n.*3244G>A) n.2877G>A c.3517G>A (p.Glu1173Lys) c.3634G>A (p.Glu1212Lys) c.3556G>A (p.Glu1186Lys) c.3514G>A (p.Glu1172Lys) c.3499G>A (p.Glu1167Lys) c.3469G>A (p.Glu1157Lys) c.3577G>A (p.Glu1193Lys) c.3769G>A (p.Glu1257Lys) c.3715G>A (p.Glu1239Lys) c.3706G>A (p.Glu1236Lys) c.3124G>A (p.Glu1042Lys) c.3568G>A (p.Glu1190Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135791865G>C | CA375494047 | KCNT1 | c.3571G>C (p.Glu1191Gln) c.3475G>C (p.Glu1159Gln) c.3319G>C (p.Glu1107Gln) c.3382G>C (p.Glu1128Gln) c.3391G>C (p.Glu1131Gln) c.3535G>C (p.Glu1179Gln) c.*3244G>C (n.*3244G>C) n.2877G>C c.3517G>C (p.Glu1173Gln) c.3634G>C (p.Glu1212Gln) c.3556G>C (p.Glu1186Gln) c.3514G>C (p.Glu1172Gln) c.3499G>C (p.Glu1167Gln) c.3469G>C (p.Glu1157Gln) c.3577G>C (p.Glu1193Gln) c.3769G>C (p.Glu1257Gln) c.3715G>C (p.Glu1239Gln) c.3706G>C (p.Glu1236Gln) c.3124G>C (p.Glu1042Gln) c.3568G>C (p.Glu1190Gln) | |
| 9 | g.135791865G= | CA1883892511 | KCNT1 | c.3571G= (p.Glu1191=) c.3475G= (p.Glu1159=) c.3319G= (p.Glu1107=) c.3382G= (p.Glu1128=) c.3391G= (p.Glu1131=) c.3535G= (p.Glu1179=) c.*3244G= (n.*3244G=) n.2877G= c.3517G= (p.Glu1173=) c.3634G= (p.Glu1212=) c.3556G= (p.Glu1186=) c.3514G= (p.Glu1172=) c.3499G= (p.Glu1167=) c.3469G= (p.Glu1157=) c.3577G= (p.Glu1193=) c.3769G= (p.Glu1257=) c.3715G= (p.Glu1239=) c.3706G= (p.Glu1236=) c.3124G= (p.Glu1042=) c.3568G= (p.Glu1190=) | |
| 9 | g.135791865G>T | CA375494048 | KCNT1 | c.3571G>T (p.Glu1191Ter) c.3475G>T (p.Glu1159Ter) c.3319G>T (p.Glu1107Ter) c.3382G>T (p.Glu1128Ter) c.3391G>T (p.Glu1131Ter) c.3535G>T (p.Glu1179Ter) c.*3244G>T (n.*3244G>T) n.2877G>T c.3517G>T (p.Glu1173Ter) c.3634G>T (p.Glu1212Ter) c.3556G>T (p.Glu1186Ter) c.3514G>T (p.Glu1172Ter) c.3499G>T (p.Glu1167Ter) c.3469G>T (p.Glu1157Ter) c.3577G>T (p.Glu1193Ter) c.3769G>T (p.Glu1257Ter) c.3715G>T (p.Glu1239Ter) c.3706G>T (p.Glu1236Ter) c.3124G>T (p.Glu1042Ter) c.3568G>T (p.Glu1190Ter) | |
| 9 | g.135791866A>C | CA375494052 | KCNT1 | c.3572A>C (p.Glu1191Ala) c.3476A>C (p.Glu1159Ala) c.3320A>C (p.Glu1107Ala) c.3383A>C (p.Glu1128Ala) c.3392A>C (p.Glu1131Ala) c.3536A>C (p.Glu1179Ala) c.*3245A>C (n.*3245A>C) n.2878A>C c.3518A>C (p.Glu1173Ala) c.3635A>C (p.Glu1212Ala) c.3557A>C (p.Glu1186Ala) c.3515A>C (p.Glu1172Ala) c.3500A>C (p.Glu1167Ala) c.3470A>C (p.Glu1157Ala) c.3578A>C (p.Glu1193Ala) c.3770A>C (p.Glu1257Ala) c.3716A>C (p.Glu1239Ala) c.3707A>C (p.Glu1236Ala) c.3125A>C (p.Glu1042Ala) c.3569A>C (p.Glu1190Ala) | |
| 9 | g.135791866A>G | CA375494053 | KCNT1 | c.3572A>G (p.Glu1191Gly) c.3476A>G (p.Glu1159Gly) c.3320A>G (p.Glu1107Gly) c.3383A>G (p.Glu1128Gly) c.3392A>G (p.Glu1131Gly) c.3536A>G (p.Glu1179Gly) c.*3245A>G (n.*3245A>G) n.2878A>G c.3518A>G (p.Glu1173Gly) c.3635A>G (p.Glu1212Gly) c.3557A>G (p.Glu1186Gly) c.3515A>G (p.Glu1172Gly) c.3500A>G (p.Glu1167Gly) c.3470A>G (p.Glu1157Gly) c.3578A>G (p.Glu1193Gly) c.3770A>G (p.Glu1257Gly) c.3716A>G (p.Glu1239Gly) c.3707A>G (p.Glu1236Gly) c.3125A>G (p.Glu1042Gly) c.3569A>G (p.Glu1190Gly) | |
| 9 | g.135791866A>T | CA375494055 | KCNT1 | c.3572A>T (p.Glu1191Val) c.3476A>T (p.Glu1159Val) c.3320A>T (p.Glu1107Val) c.3383A>T (p.Glu1128Val) c.3392A>T (p.Glu1131Val) c.3536A>T (p.Glu1179Val) c.*3245A>T (n.*3245A>T) n.2878A>T c.3518A>T (p.Glu1173Val) c.3635A>T (p.Glu1212Val) c.3557A>T (p.Glu1186Val) c.3515A>T (p.Glu1172Val) c.3500A>T (p.Glu1167Val) c.3470A>T (p.Glu1157Val) c.3578A>T (p.Glu1193Val) c.3770A>T (p.Glu1257Val) c.3716A>T (p.Glu1239Val) c.3707A>T (p.Glu1236Val) c.3125A>T (p.Glu1042Val) c.3569A>T (p.Glu1190Val) | |
| 9 | g.135791867G>A | CA467701221 | KCNT1 | c.3573G>A (p.Glu1191=) c.3477G>A (p.Glu1159=) c.3321G>A (p.Glu1107=) c.3384G>A (p.Glu1128=) c.3393G>A (p.Glu1131=) c.3537G>A (p.Glu1179=) c.*3246G>A (n.*3246G>A) n.2879G>A c.3519G>A (p.Glu1173=) c.3636G>A (p.Glu1212=) c.3558G>A (p.Glu1186=) c.3516G>A (p.Glu1172=) c.3501G>A (p.Glu1167=) c.3471G>A (p.Glu1157=) c.3579G>A (p.Glu1193=) c.3771G>A (p.Glu1257=) c.3717G>A (p.Glu1239=) c.3708G>A (p.Glu1236=) c.3126G>A (p.Glu1042=) c.3570G>A (p.Glu1190=) | dbSNP gnomAD v4 |
| 9 | g.135791867G>C | CA375494058 | KCNT1 | c.3573G>C (p.Glu1191Asp) c.3477G>C (p.Glu1159Asp) c.3321G>C (p.Glu1107Asp) c.3384G>C (p.Glu1128Asp) c.3393G>C (p.Glu1131Asp) c.3537G>C (p.Glu1179Asp) c.*3246G>C (n.*3246G>C) n.2879G>C c.3519G>C (p.Glu1173Asp) c.3636G>C (p.Glu1212Asp) c.3558G>C (p.Glu1186Asp) c.3516G>C (p.Glu1172Asp) c.3501G>C (p.Glu1167Asp) c.3471G>C (p.Glu1157Asp) c.3579G>C (p.Glu1193Asp) c.3771G>C (p.Glu1257Asp) c.3717G>C (p.Glu1239Asp) c.3708G>C (p.Glu1236Asp) c.3126G>C (p.Glu1042Asp) c.3570G>C (p.Glu1190Asp) | |
| 9 | g.135791867G= | CA1883892512 | KCNT1 | c.3573G= (p.Glu1191=) c.3477G= (p.Glu1159=) c.3321G= (p.Glu1107=) c.3384G= (p.Glu1128=) c.3393G= (p.Glu1131=) c.3537G= (p.Glu1179=) c.*3246G= (n.*3246G=) n.2879G= c.3519G= (p.Glu1173=) c.3636G= (p.Glu1212=) c.3558G= (p.Glu1186=) c.3516G= (p.Glu1172=) c.3501G= (p.Glu1167=) c.3471G= (p.Glu1157=) c.3579G= (p.Glu1193=) c.3771G= (p.Glu1257=) c.3717G= (p.Glu1239=) c.3708G= (p.Glu1236=) c.3126G= (p.Glu1042=) c.3570G= (p.Glu1190=) | |
| 9 | g.135791867G>T | CA375494059 | KCNT1 | c.3573G>T (p.Glu1191Asp) c.3477G>T (p.Glu1159Asp) c.3321G>T (p.Glu1107Asp) c.3384G>T (p.Glu1128Asp) c.3393G>T (p.Glu1131Asp) c.3537G>T (p.Glu1179Asp) c.*3246G>T (n.*3246G>T) n.2879G>T c.3519G>T (p.Glu1173Asp) c.3636G>T (p.Glu1212Asp) c.3558G>T (p.Glu1186Asp) c.3516G>T (p.Glu1172Asp) c.3501G>T (p.Glu1167Asp) c.3471G>T (p.Glu1157Asp) c.3579G>T (p.Glu1193Asp) c.3771G>T (p.Glu1257Asp) c.3717G>T (p.Glu1239Asp) c.3708G>T (p.Glu1236Asp) c.3126G>T (p.Glu1042Asp) c.3570G>T (p.Glu1190Asp) | |
| 9 | g.135791868C>A | CA375494065 | KCNT1 | c.3574C>A (p.Pro1192Thr) c.3478C>A (p.Pro1160Thr) c.3322C>A (p.Pro1108Thr) c.3385C>A (p.Pro1129Thr) c.3394C>A (p.Pro1132Thr) c.3538C>A (p.Pro1180Thr) c.*3247C>A (n.*3247C>A) n.2880C>A c.3520C>A (p.Pro1174Thr) c.3637C>A (p.Pro1213Thr) c.3559C>A (p.Pro1187Thr) c.3517C>A (p.Pro1173Thr) c.3502C>A (p.Pro1168Thr) c.3472C>A (p.Pro1158Thr) c.3580C>A (p.Pro1194Thr) c.3772C>A (p.Pro1258Thr) c.3718C>A (p.Pro1240Thr) c.3709C>A (p.Pro1237Thr) c.3127C>A (p.Pro1043Thr) c.3571C>A (p.Pro1191Thr) | |
| 9 | g.135791868C= | CA1883892513 | KCNT1 | c.3574C= (p.Pro1192=) c.3478C= (p.Pro1160=) c.3322C= (p.Pro1108=) c.3385C= (p.Pro1129=) c.3394C= (p.Pro1132=) c.3538C= (p.Pro1180=) c.*3247C= (n.*3247C=) n.2880C= c.3520C= (p.Pro1174=) c.3637C= (p.Pro1213=) c.3559C= (p.Pro1187=) c.3517C= (p.Pro1173=) c.3502C= (p.Pro1168=) c.3472C= (p.Pro1158=) c.3580C= (p.Pro1194=) c.3772C= (p.Pro1258=) c.3718C= (p.Pro1240=) c.3709C= (p.Pro1237=) c.3127C= (p.Pro1043=) c.3571C= (p.Pro1191=) | |
| 9 | g.135791868C>G | CA375494064 | KCNT1 | c.3574C>G (p.Pro1192Ala) c.3478C>G (p.Pro1160Ala) c.3322C>G (p.Pro1108Ala) c.3385C>G (p.Pro1129Ala) c.3394C>G (p.Pro1132Ala) c.3538C>G (p.Pro1180Ala) c.*3247C>G (n.*3247C>G) n.2880C>G c.3520C>G (p.Pro1174Ala) c.3637C>G (p.Pro1213Ala) c.3559C>G (p.Pro1187Ala) c.3517C>G (p.Pro1173Ala) c.3502C>G (p.Pro1168Ala) c.3472C>G (p.Pro1158Ala) c.3580C>G (p.Pro1194Ala) c.3772C>G (p.Pro1258Ala) c.3718C>G (p.Pro1240Ala) c.3709C>G (p.Pro1237Ala) c.3127C>G (p.Pro1043Ala) c.3571C>G (p.Pro1191Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135791868C>T | CA375494062 | KCNT1 | c.3574C>T (p.Pro1192Ser) c.3478C>T (p.Pro1160Ser) c.3322C>T (p.Pro1108Ser) c.3385C>T (p.Pro1129Ser) c.3394C>T (p.Pro1132Ser) c.3538C>T (p.Pro1180Ser) c.*3247C>T (n.*3247C>T) n.2880C>T c.3520C>T (p.Pro1174Ser) c.3637C>T (p.Pro1213Ser) c.3559C>T (p.Pro1187Ser) c.3517C>T (p.Pro1173Ser) c.3502C>T (p.Pro1168Ser) c.3472C>T (p.Pro1158Ser) c.3580C>T (p.Pro1194Ser) c.3772C>T (p.Pro1258Ser) c.3718C>T (p.Pro1240Ser) c.3709C>T (p.Pro1237Ser) c.3127C>T (p.Pro1043Ser) c.3571C>T (p.Pro1191Ser) | ClinVar dbSNP |