| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765093C>A | CA375500050 | KCNT1 | c.1098C>A (p.His366Gln) c.939C>A (p.His313Gln) c.846C>A (p.His282Gln) c.855C>A (p.His285Gln) c.999C>A (p.His333Gln) c.*708C>A (n.*708C>A) c.981C>A (p.His327Gln) c.1041C>A (p.His347Gln) n.917C>A c.963C>A (p.His321Gln) c.1233C>A (p.His411Gln) c.1242C>A (p.His414Gln) c.588C>A (p.His196Gln) c.1032C>A (p.His344Gln) | |
| 9 | g.135765093C>G | CA375500051 | KCNT1 | c.1098C>G (p.His366Gln) c.939C>G (p.His313Gln) c.846C>G (p.His282Gln) c.855C>G (p.His285Gln) c.999C>G (p.His333Gln) c.*708C>G (n.*708C>G) c.981C>G (p.His327Gln) c.1041C>G (p.His347Gln) n.917C>G c.963C>G (p.His321Gln) c.1233C>G (p.His411Gln) c.1242C>G (p.His414Gln) c.588C>G (p.His196Gln) c.1032C>G (p.His344Gln) | |
| 9 | g.135765093C>T | CA467698030 | KCNT1 | c.1098C>T (p.His366=) c.939C>T (p.His313=) c.846C>T (p.His282=) c.855C>T (p.His285=) c.999C>T (p.His333=) c.*708C>T (n.*708C>T) c.981C>T (p.His327=) c.1041C>T (p.His347=) n.917C>T c.963C>T (p.His321=) c.1233C>T (p.His411=) c.1242C>T (p.His414=) c.588C>T (p.His196=) c.1032C>T (p.His344=) | |
| 9 | g.135765094dup | CA2953904977 | KCNT1 | c.1099dup (p.Arg367ProfsTer?) c.940dup (p.Arg314ProfsTer?) c.847dup (p.Arg283ProfsTer?) c.856dup (p.Arg286ProfsTer?) c.1000dup (p.Arg334ProfsTer?) c.*709dup (n.*709dup) c.982dup (p.Arg328ProfsTer?) c.1042dup (p.Arg348ProfsTer?) n.918dup c.964dup (p.Arg322ProfsTer?) c.1234dup (p.Arg412ProfsTer?) c.1243dup (p.Arg415ProfsTer?) c.589dup (p.Arg197ProfsTer?) c.1033dup (p.Arg345ProfsTer?) | |
| 9 | g.135765094C>A | CA375500054 | KCNT1 | c.1099C>A (p.Arg367Ser) c.940C>A (p.Arg314Ser) c.847C>A (p.Arg283Ser) c.856C>A (p.Arg286Ser) c.1000C>A (p.Arg334Ser) c.*709C>A (n.*709C>A) c.982C>A (p.Arg328Ser) c.1042C>A (p.Arg348Ser) n.918C>A c.964C>A (p.Arg322Ser) c.1234C>A (p.Arg412Ser) c.1243C>A (p.Arg415Ser) c.589C>A (p.Arg197Ser) c.1033C>A (p.Arg345Ser) | |
| 9 | g.135765094C= | CA1883866310 | KCNT1 | c.1099C= (p.Arg367=) c.940C= (p.Arg314=) c.847C= (p.Arg283=) c.856C= (p.Arg286=) c.1000C= (p.Arg334=) c.*709C= (n.*709C=) c.982C= (p.Arg328=) c.1042C= (p.Arg348=) n.918C= c.964C= (p.Arg322=) c.1234C= (p.Arg412=) c.1243C= (p.Arg415=) c.589C= (p.Arg197=) c.1033C= (p.Arg345=) | |
| 9 | g.135765094C>G | CA375500056 | KCNT1 | c.1099C>G (p.Arg367Gly) c.940C>G (p.Arg314Gly) c.847C>G (p.Arg283Gly) c.856C>G (p.Arg286Gly) c.1000C>G (p.Arg334Gly) c.*709C>G (n.*709C>G) c.982C>G (p.Arg328Gly) c.1042C>G (p.Arg348Gly) n.918C>G c.964C>G (p.Arg322Gly) c.1234C>G (p.Arg412Gly) c.1243C>G (p.Arg415Gly) c.589C>G (p.Arg197Gly) c.1033C>G (p.Arg345Gly) | |
| 9 | g.135765094C>T | CA5326771 | KCNT1 | c.1099C>T (p.Arg367Cys) c.940C>T (p.Arg314Cys) c.847C>T (p.Arg283Cys) c.856C>T (p.Arg286Cys) c.1000C>T (p.Arg334Cys) c.*709C>T (n.*709C>T) c.982C>T (p.Arg328Cys) c.1042C>T (p.Arg348Cys) n.918C>T c.964C>T (p.Arg322Cys) c.1234C>T (p.Arg412Cys) c.1243C>T (p.Arg415Cys) c.589C>T (p.Arg197Cys) c.1033C>T (p.Arg345Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765095G>A | CA375500058 | KCNT1 | c.1100G>A (p.Arg367His) c.941G>A (p.Arg314His) c.848G>A (p.Arg283His) c.857G>A (p.Arg286His) c.1001G>A (p.Arg334His) c.*710G>A (n.*710G>A) c.983G>A (p.Arg328His) c.1043G>A (p.Arg348His) n.919G>A c.965G>A (p.Arg322His) c.1235G>A (p.Arg412His) c.1244G>A (p.Arg415His) c.590G>A (p.Arg197His) c.1034G>A (p.Arg345His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765095G>C | CA375500060 | KCNT1 | c.1100G>C (p.Arg367Pro) c.941G>C (p.Arg314Pro) c.848G>C (p.Arg283Pro) c.857G>C (p.Arg286Pro) c.1001G>C (p.Arg334Pro) c.*710G>C (n.*710G>C) c.983G>C (p.Arg328Pro) c.1043G>C (p.Arg348Pro) n.919G>C c.965G>C (p.Arg322Pro) c.1235G>C (p.Arg412Pro) c.1244G>C (p.Arg415Pro) c.590G>C (p.Arg197Pro) c.1034G>C (p.Arg345Pro) | |
| 9 | g.135765095G= | CA1883866311 | KCNT1 | c.1100G= (p.Arg367=) c.941G= (p.Arg314=) c.848G= (p.Arg283=) c.857G= (p.Arg286=) c.1001G= (p.Arg334=) c.*710G= (n.*710G=) c.983G= (p.Arg328=) c.1043G= (p.Arg348=) n.919G= c.965G= (p.Arg322=) c.1235G= (p.Arg412=) c.1244G= (p.Arg415=) c.590G= (p.Arg197=) c.1034G= (p.Arg345=) | |
| 9 | g.135765095G>T | CA375500062 | KCNT1 | c.1100G>T (p.Arg367Leu) c.941G>T (p.Arg314Leu) c.848G>T (p.Arg283Leu) c.857G>T (p.Arg286Leu) c.1001G>T (p.Arg334Leu) c.*710G>T (n.*710G>T) c.983G>T (p.Arg328Leu) c.1043G>T (p.Arg348Leu) n.919G>T c.965G>T (p.Arg322Leu) c.1235G>T (p.Arg412Leu) c.1244G>T (p.Arg415Leu) c.590G>T (p.Arg197Leu) c.1034G>T (p.Arg345Leu) | |
| 9 | g.135765096T>A | CA5326772 | KCNT1 | c.1101T>A (p.Arg367=) c.942T>A (p.Arg314=) c.849T>A (p.Arg283=) c.858T>A (p.Arg286=) c.1002T>A (p.Arg334=) c.*711T>A (n.*711T>A) c.984T>A (p.Arg328=) c.1044T>A (p.Arg348=) n.920T>A c.966T>A (p.Arg322=) c.1236T>A (p.Arg412=) c.1245T>A (p.Arg415=) c.591T>A (p.Arg197=) c.1035T>A (p.Arg345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765096T>C | CA467698032 | KCNT1 | c.1101T>C (p.Arg367=) c.942T>C (p.Arg314=) c.849T>C (p.Arg283=) c.858T>C (p.Arg286=) c.1002T>C (p.Arg334=) c.*711T>C (n.*711T>C) c.984T>C (p.Arg328=) c.1044T>C (p.Arg348=) n.920T>C c.966T>C (p.Arg322=) c.1236T>C (p.Arg412=) c.1245T>C (p.Arg415=) c.591T>C (p.Arg197=) c.1035T>C (p.Arg345=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135765096T>G | CA467698033 | KCNT1 | c.1101T>G (p.Arg367=) c.942T>G (p.Arg314=) c.849T>G (p.Arg283=) c.858T>G (p.Arg286=) c.1002T>G (p.Arg334=) c.*711T>G (n.*711T>G) c.984T>G (p.Arg328=) c.1044T>G (p.Arg348=) n.920T>G c.966T>G (p.Arg322=) c.1236T>G (p.Arg412=) c.1245T>G (p.Arg415=) c.591T>G (p.Arg197=) c.1035T>G (p.Arg345=) | |
| 9 | g.135765096T= | CA1883866312 | KCNT1 | c.1101T= (p.Arg367=) c.942T= (p.Arg314=) c.849T= (p.Arg283=) c.858T= (p.Arg286=) c.1002T= (p.Arg334=) c.*711T= (n.*711T=) c.984T= (p.Arg328=) c.1044T= (p.Arg348=) n.920T= c.966T= (p.Arg322=) c.1236T= (p.Arg412=) c.1245T= (p.Arg415=) c.591T= (p.Arg197=) c.1035T= (p.Arg345=) | |
| 9 | g.135765097G>A | CA375500065 | KCNT1 | c.1102G>A (p.Ala368Thr) c.943G>A (p.Ala315Thr) c.850G>A (p.Ala284Thr) c.859G>A (p.Ala287Thr) c.1003G>A (p.Ala335Thr) c.*712G>A (n.*712G>A) c.985G>A (p.Ala329Thr) c.1045G>A (p.Ala349Thr) n.921G>A c.967G>A (p.Ala323Thr) c.1237G>A (p.Ala413Thr) c.1246G>A (p.Ala416Thr) c.592G>A (p.Ala198Thr) c.1036G>A (p.Ala346Thr) | |
| 9 | g.135765097G>C | CA375500067 | KCNT1 | c.1102G>C (p.Ala368Pro) c.943G>C (p.Ala315Pro) c.850G>C (p.Ala284Pro) c.859G>C (p.Ala287Pro) c.1003G>C (p.Ala335Pro) c.*712G>C (n.*712G>C) c.985G>C (p.Ala329Pro) c.1045G>C (p.Ala349Pro) n.921G>C c.967G>C (p.Ala323Pro) c.1237G>C (p.Ala413Pro) c.1246G>C (p.Ala416Pro) c.592G>C (p.Ala198Pro) c.1036G>C (p.Ala346Pro) | |
| 9 | g.135765097G= | CA1883866313 | KCNT1 | c.1102G= (p.Ala368=) c.943G= (p.Ala315=) c.850G= (p.Ala284=) c.859G= (p.Ala287=) c.1003G= (p.Ala335=) c.*712G= (n.*712G=) c.985G= (p.Ala329=) c.1045G= (p.Ala349=) n.921G= c.967G= (p.Ala323=) c.1237G= (p.Ala413=) c.1246G= (p.Ala416=) c.592G= (p.Ala198=) c.1036G= (p.Ala346=) | |
| 9 | g.135765097G>T | CA201465156 | KCNT1 | c.1102G>T (p.Ala368Ser) c.943G>T (p.Ala315Ser) c.850G>T (p.Ala284Ser) c.859G>T (p.Ala287Ser) c.1003G>T (p.Ala335Ser) c.*712G>T (n.*712G>T) c.985G>T (p.Ala329Ser) c.1045G>T (p.Ala349Ser) n.921G>T c.967G>T (p.Ala323Ser) c.1237G>T (p.Ala413Ser) c.1246G>T (p.Ala416Ser) c.592G>T (p.Ala198Ser) c.1036G>T (p.Ala346Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135765098C>A | CA375500072 | KCNT1 | c.1103C>A (p.Ala368Glu) c.944C>A (p.Ala315Glu) c.851C>A (p.Ala284Glu) c.860C>A (p.Ala287Glu) c.1004C>A (p.Ala335Glu) c.*713C>A (n.*713C>A) c.986C>A (p.Ala329Glu) c.1046C>A (p.Ala349Glu) n.922C>A c.968C>A (p.Ala323Glu) c.1238C>A (p.Ala413Glu) c.1247C>A (p.Ala416Glu) c.593C>A (p.Ala198Glu) c.1037C>A (p.Ala346Glu) | |
| 9 | g.135765098C= | CA1883866314 | KCNT1 | c.1103C= (p.Ala368=) c.944C= (p.Ala315=) c.851C= (p.Ala284=) c.860C= (p.Ala287=) c.1004C= (p.Ala335=) c.*713C= (n.*713C=) c.986C= (p.Ala329=) c.1046C= (p.Ala349=) n.922C= c.968C= (p.Ala323=) c.1238C= (p.Ala413=) c.1247C= (p.Ala416=) c.593C= (p.Ala198=) c.1037C= (p.Ala346=) | |
| 9 | g.135765098C>G | CA375500069 | KCNT1 | c.1103C>G (p.Ala368Gly) c.944C>G (p.Ala315Gly) c.851C>G (p.Ala284Gly) c.860C>G (p.Ala287Gly) c.1004C>G (p.Ala335Gly) c.*713C>G (n.*713C>G) c.986C>G (p.Ala329Gly) c.1046C>G (p.Ala349Gly) n.922C>G c.968C>G (p.Ala323Gly) c.1238C>G (p.Ala413Gly) c.1247C>G (p.Ala416Gly) c.593C>G (p.Ala198Gly) c.1037C>G (p.Ala346Gly) | |
| 9 | g.135765098C>T | CA201465160 | KCNT1 | c.1103C>T (p.Ala368Val) c.944C>T (p.Ala315Val) c.851C>T (p.Ala284Val) c.860C>T (p.Ala287Val) c.1004C>T (p.Ala335Val) c.*713C>T (n.*713C>T) c.986C>T (p.Ala329Val) c.1046C>T (p.Ala349Val) n.922C>T c.968C>T (p.Ala323Val) c.1238C>T (p.Ala413Val) c.1247C>T (p.Ala416Val) c.593C>T (p.Ala198Val) c.1037C>T (p.Ala346Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765099G>A | CA200963 | KCNT1 | c.1104G>A (p.Ala368=) c.945G>A (p.Ala315=) c.852G>A (p.Ala284=) c.861G>A (p.Ala287=) c.1005G>A (p.Ala335=) c.*714G>A (n.*714G>A) c.987G>A (p.Ala329=) c.1047G>A (p.Ala349=) n.923G>A c.969G>A (p.Ala323=) c.1239G>A (p.Ala413=) c.1248G>A (p.Ala416=) c.594G>A (p.Ala198=) c.1038G>A (p.Ala346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765099G>C | CA467698034 | KCNT1 | c.1104G>C (p.Ala368=) c.945G>C (p.Ala315=) c.852G>C (p.Ala284=) c.861G>C (p.Ala287=) c.1005G>C (p.Ala335=) c.*714G>C (n.*714G>C) c.987G>C (p.Ala329=) c.1047G>C (p.Ala349=) n.923G>C c.969G>C (p.Ala323=) c.1239G>C (p.Ala413=) c.1248G>C (p.Ala416=) c.594G>C (p.Ala198=) c.1038G>C (p.Ala346=) | |
| 9 | g.135765099G= | CA1883866315 | KCNT1 | c.1104G= (p.Ala368=) c.945G= (p.Ala315=) c.852G= (p.Ala284=) c.861G= (p.Ala287=) c.1005G= (p.Ala335=) c.*714G= (n.*714G=) c.987G= (p.Ala329=) c.1047G= (p.Ala349=) n.923G= c.969G= (p.Ala323=) c.1239G= (p.Ala413=) c.1248G= (p.Ala416=) c.594G= (p.Ala198=) c.1038G= (p.Ala346=) | |
| 9 | g.135765099G>T | CA201465167 | KCNT1 | c.1104G>T (p.Ala368=) c.945G>T (p.Ala315=) c.852G>T (p.Ala284=) c.861G>T (p.Ala287=) c.1005G>T (p.Ala335=) c.*714G>T (n.*714G>T) c.987G>T (p.Ala329=) c.1047G>T (p.Ala349=) n.923G>T c.969G>T (p.Ala323=) c.1239G>T (p.Ala413=) c.1248G>T (p.Ala416=) c.594G>T (p.Ala198=) c.1038G>T (p.Ala346=) | dbSNP gnomAD v4 |
| 9 | g.135765100C>A | CA375500075 | KCNT1 | c.1105C>A (p.Gln369Lys) c.946C>A (p.Gln316Lys) c.853C>A (p.Gln285Lys) c.862C>A (p.Gln288Lys) c.1006C>A (p.Gln336Lys) c.*715C>A (n.*715C>A) c.988C>A (p.Gln330Lys) c.1048C>A (p.Gln350Lys) n.924C>A c.970C>A (p.Gln324Lys) c.1240C>A (p.Gln414Lys) c.1249C>A (p.Gln417Lys) c.595C>A (p.Gln199Lys) c.1039C>A (p.Gln347Lys) | |
| 9 | g.135765100C>G | CA375500077 | KCNT1 | c.1105C>G (p.Gln369Glu) c.946C>G (p.Gln316Glu) c.853C>G (p.Gln285Glu) c.862C>G (p.Gln288Glu) c.1006C>G (p.Gln336Glu) c.*715C>G (n.*715C>G) c.988C>G (p.Gln330Glu) c.1048C>G (p.Gln350Glu) n.924C>G c.970C>G (p.Gln324Glu) c.1240C>G (p.Gln414Glu) c.1249C>G (p.Gln417Glu) c.595C>G (p.Gln199Glu) c.1039C>G (p.Gln347Glu) | |
| 9 | g.135765100C>T | CA375500078 | KCNT1 | c.1105C>T (p.Gln369Ter) c.946C>T (p.Gln316Ter) c.853C>T (p.Gln285Ter) c.862C>T (p.Gln288Ter) c.1006C>T (p.Gln336Ter) c.*715C>T (n.*715C>T) c.988C>T (p.Gln330Ter) c.1048C>T (p.Gln350Ter) n.924C>T c.970C>T (p.Gln324Ter) c.1240C>T (p.Gln414Ter) c.1249C>T (p.Gln417Ter) c.595C>T (p.Gln199Ter) c.1039C>T (p.Gln347Ter) | ClinVar |
| 9 | g.135765101A>C | CA375500081 | KCNT1 | c.1106A>C (p.Gln369Pro) c.947A>C (p.Gln316Pro) c.854A>C (p.Gln285Pro) c.863A>C (p.Gln288Pro) c.1007A>C (p.Gln336Pro) c.*716A>C (n.*716A>C) c.989A>C (p.Gln330Pro) c.1049A>C (p.Gln350Pro) n.925A>C c.971A>C (p.Gln324Pro) c.1241A>C (p.Gln414Pro) c.1250A>C (p.Gln417Pro) c.596A>C (p.Gln199Pro) c.1040A>C (p.Gln347Pro) | |
| 9 | g.135765101A>G | CA375500082 | KCNT1 | c.1106A>G (p.Gln369Arg) c.947A>G (p.Gln316Arg) c.854A>G (p.Gln285Arg) c.863A>G (p.Gln288Arg) c.1007A>G (p.Gln336Arg) c.*716A>G (n.*716A>G) c.989A>G (p.Gln330Arg) c.1049A>G (p.Gln350Arg) n.925A>G c.971A>G (p.Gln324Arg) c.1241A>G (p.Gln414Arg) c.1250A>G (p.Gln417Arg) c.596A>G (p.Gln199Arg) c.1040A>G (p.Gln347Arg) | |
| 9 | g.135765101A>T | CA375500084 | KCNT1 | c.1106A>T (p.Gln369Leu) c.947A>T (p.Gln316Leu) c.854A>T (p.Gln285Leu) c.863A>T (p.Gln288Leu) c.1007A>T (p.Gln336Leu) c.*716A>T (n.*716A>T) c.989A>T (p.Gln330Leu) c.1049A>T (p.Gln350Leu) n.925A>T c.971A>T (p.Gln324Leu) c.1241A>T (p.Gln414Leu) c.1250A>T (p.Gln417Leu) c.596A>T (p.Gln199Leu) c.1040A>T (p.Gln347Leu) | |
| 9 | g.135765102G>A | CA5326773 | KCNT1 | c.1107G>A (p.Gln369=) c.948G>A (p.Gln316=) c.855G>A (p.Gln285=) c.864G>A (p.Gln288=) c.1008G>A (p.Gln336=) c.*717G>A (n.*717G>A) c.990G>A (p.Gln330=) c.1050G>A (p.Gln350=) n.926G>A c.972G>A (p.Gln324=) c.1242G>A (p.Gln414=) c.1251G>A (p.Gln417=) c.597G>A (p.Gln199=) c.1041G>A (p.Gln347=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765102G>C | CA375500087 | KCNT1 | c.1107G>C (p.Gln369His) c.948G>C (p.Gln316His) c.855G>C (p.Gln285His) c.864G>C (p.Gln288His) c.1008G>C (p.Gln336His) c.*717G>C (n.*717G>C) c.990G>C (p.Gln330His) c.1050G>C (p.Gln350His) n.926G>C c.972G>C (p.Gln324His) c.1242G>C (p.Gln414His) c.1251G>C (p.Gln417His) c.597G>C (p.Gln199His) c.1041G>C (p.Gln347His) | |
| 9 | g.135765102G= | CA1883866316 | KCNT1 | c.1107G= (p.Gln369=) c.948G= (p.Gln316=) c.855G= (p.Gln285=) c.864G= (p.Gln288=) c.1008G= (p.Gln336=) c.*717G= (n.*717G=) c.990G= (p.Gln330=) c.1050G= (p.Gln350=) n.926G= c.972G= (p.Gln324=) c.1242G= (p.Gln414=) c.1251G= (p.Gln417=) c.597G= (p.Gln199=) c.1041G= (p.Gln347=) | |
| 9 | g.135765102G>T | CA375500088 | KCNT1 | c.1107G>T (p.Gln369His) c.948G>T (p.Gln316His) c.855G>T (p.Gln285His) c.864G>T (p.Gln288His) c.1008G>T (p.Gln336His) c.*717G>T (n.*717G>T) c.990G>T (p.Gln330His) c.1050G>T (p.Gln350His) n.926G>T c.972G>T (p.Gln324His) c.1242G>T (p.Gln414His) c.1251G>T (p.Gln417His) c.597G>T (p.Gln199His) c.1041G>T (p.Gln347His) | |
| 9 | g.135765103A= | CA1883866317 | KCNT1 | c.1108A= (p.Thr370=) c.949A= (p.Thr317=) c.856A= (p.Thr286=) c.865A= (p.Thr289=) c.1009A= (p.Thr337=) c.*718A= (n.*718A=) c.991A= (p.Thr331=) c.1051A= (p.Thr351=) n.927A= c.973A= (p.Thr325=) c.1243A= (p.Thr415=) c.1252A= (p.Thr418=) c.598A= (p.Thr200=) c.1042A= (p.Thr348=) | |
| 9 | g.135765103A>C | CA375500089 | KCNT1 | c.1108A>C (p.Thr370Pro) c.949A>C (p.Thr317Pro) c.856A>C (p.Thr286Pro) c.865A>C (p.Thr289Pro) c.1009A>C (p.Thr337Pro) c.*718A>C (n.*718A>C) c.991A>C (p.Thr331Pro) c.1051A>C (p.Thr351Pro) n.927A>C c.973A>C (p.Thr325Pro) c.1243A>C (p.Thr415Pro) c.1252A>C (p.Thr418Pro) c.598A>C (p.Thr200Pro) c.1042A>C (p.Thr348Pro) | |
| 9 | g.135765103A>G | CA375500090 | KCNT1 | c.1108A>G (p.Thr370Ala) c.949A>G (p.Thr317Ala) c.856A>G (p.Thr286Ala) c.865A>G (p.Thr289Ala) c.1009A>G (p.Thr337Ala) c.*718A>G (n.*718A>G) c.991A>G (p.Thr331Ala) c.1051A>G (p.Thr351Ala) n.927A>G c.973A>G (p.Thr325Ala) c.1243A>G (p.Thr415Ala) c.1252A>G (p.Thr418Ala) c.598A>G (p.Thr200Ala) c.1042A>G (p.Thr348Ala) | gnomAD v4 |
| 9 | g.135765103A>T | CA375500092 | KCNT1 | c.1108A>T (p.Thr370Ser) c.949A>T (p.Thr317Ser) c.856A>T (p.Thr286Ser) c.865A>T (p.Thr289Ser) c.1009A>T (p.Thr337Ser) c.*718A>T (n.*718A>T) c.991A>T (p.Thr331Ser) c.1051A>T (p.Thr351Ser) n.927A>T c.973A>T (p.Thr325Ser) c.1243A>T (p.Thr415Ser) c.1252A>T (p.Thr418Ser) c.598A>T (p.Thr200Ser) c.1042A>T (p.Thr348Ser) | dbSNP gnomAD v2 |
| 9 | g.135765104C>A | CA375500097 | KCNT1 | c.1109C>A (p.Thr370Lys) c.950C>A (p.Thr317Lys) c.857C>A (p.Thr286Lys) c.866C>A (p.Thr289Lys) c.1010C>A (p.Thr337Lys) c.*719C>A (n.*719C>A) c.992C>A (p.Thr331Lys) c.1052C>A (p.Thr351Lys) n.928C>A c.974C>A (p.Thr325Lys) c.1244C>A (p.Thr415Lys) c.1253C>A (p.Thr418Lys) c.599C>A (p.Thr200Lys) c.1043C>A (p.Thr348Lys) | |
| 9 | g.135765104C= | CA1883866318 | KCNT1 | c.1109C= (p.Thr370=) c.950C= (p.Thr317=) c.857C= (p.Thr286=) c.866C= (p.Thr289=) c.1010C= (p.Thr337=) c.*719C= (n.*719C=) c.992C= (p.Thr331=) c.1052C= (p.Thr351=) n.928C= c.974C= (p.Thr325=) c.1244C= (p.Thr415=) c.1253C= (p.Thr418=) c.599C= (p.Thr200=) c.1043C= (p.Thr348=) | |
| 9 | g.135765104C>G | CA375500094 | KCNT1 | c.1109C>G (p.Thr370Arg) c.950C>G (p.Thr317Arg) c.857C>G (p.Thr286Arg) c.866C>G (p.Thr289Arg) c.1010C>G (p.Thr337Arg) c.*719C>G (n.*719C>G) c.992C>G (p.Thr331Arg) c.1052C>G (p.Thr351Arg) n.928C>G c.974C>G (p.Thr325Arg) c.1244C>G (p.Thr415Arg) c.1253C>G (p.Thr418Arg) c.599C>G (p.Thr200Arg) c.1043C>G (p.Thr348Arg) | |
| 9 | g.135765104C>T | CA375500096 | KCNT1 | c.1109C>T (p.Thr370Met) c.950C>T (p.Thr317Met) c.857C>T (p.Thr286Met) c.866C>T (p.Thr289Met) c.1010C>T (p.Thr337Met) c.*719C>T (n.*719C>T) c.992C>T (p.Thr331Met) c.1052C>T (p.Thr351Met) n.928C>T c.974C>T (p.Thr325Met) c.1244C>T (p.Thr415Met) c.1253C>T (p.Thr418Met) c.599C>T (p.Thr200Met) c.1043C>T (p.Thr348Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765105G>A | CA5326774 | KCNT1 | c.1110G>A (p.Thr370=) c.951G>A (p.Thr317=) c.858G>A (p.Thr286=) c.867G>A (p.Thr289=) c.1011G>A (p.Thr337=) c.*720G>A (n.*720G>A) c.993G>A (p.Thr331=) c.1053G>A (p.Thr351=) n.929G>A c.975G>A (p.Thr325=) c.1245G>A (p.Thr415=) c.1254G>A (p.Thr418=) c.600G>A (p.Thr200=) c.1044G>A (p.Thr348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765105G>C | CA467698039 | KCNT1 | c.1110G>C (p.Thr370=) c.951G>C (p.Thr317=) c.858G>C (p.Thr286=) c.867G>C (p.Thr289=) c.1011G>C (p.Thr337=) c.*720G>C (n.*720G>C) c.993G>C (p.Thr331=) c.1053G>C (p.Thr351=) n.929G>C c.975G>C (p.Thr325=) c.1245G>C (p.Thr415=) c.1254G>C (p.Thr418=) c.600G>C (p.Thr200=) c.1044G>C (p.Thr348=) | |
| 9 | g.135765105G= | CA1883866319 | KCNT1 | c.1110G= (p.Thr370=) c.951G= (p.Thr317=) c.858G= (p.Thr286=) c.867G= (p.Thr289=) c.1011G= (p.Thr337=) c.*720G= (n.*720G=) c.993G= (p.Thr331=) c.1053G= (p.Thr351=) n.929G= c.975G= (p.Thr325=) c.1245G= (p.Thr415=) c.1254G= (p.Thr418=) c.600G= (p.Thr200=) c.1044G= (p.Thr348=) | |
| 9 | g.135765105G>T | CA467698040 | KCNT1 | c.1110G>T (p.Thr370=) c.951G>T (p.Thr317=) c.858G>T (p.Thr286=) c.867G>T (p.Thr289=) c.1011G>T (p.Thr337=) c.*720G>T (n.*720G>T) c.993G>T (p.Thr331=) c.1053G>T (p.Thr351=) n.929G>T c.975G>T (p.Thr325=) c.1245G>T (p.Thr415=) c.1254G>T (p.Thr418=) c.600G>T (p.Thr200=) c.1044G>T (p.Thr348=) |