| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765088C>A | CA375500028 | KCNT1 | c.1093C>A (p.Arg365Ser) c.934C>A (p.Arg312Ser) c.841C>A (p.Arg281Ser) c.850C>A (p.Arg284Ser) c.994C>A (p.Arg332Ser) c.*703C>A (n.*703C>A) c.976C>A (p.Arg326Ser) c.1036C>A (p.Arg346Ser) n.912C>A c.958C>A (p.Arg320Ser) c.1228C>A (p.Arg410Ser) c.1237C>A (p.Arg413Ser) c.583C>A (p.Arg195Ser) c.1027C>A (p.Arg343Ser) | ClinVar |
| 9 | g.135765088C= | CA1883866307 | KCNT1 | c.1093C= (p.Arg365=) c.934C= (p.Arg312=) c.841C= (p.Arg281=) c.850C= (p.Arg284=) c.994C= (p.Arg332=) c.*703C= (n.*703C=) c.976C= (p.Arg326=) c.1036C= (p.Arg346=) n.912C= c.958C= (p.Arg320=) c.1228C= (p.Arg410=) c.1237C= (p.Arg413=) c.583C= (p.Arg195=) c.1027C= (p.Arg343=) | |
| 9 | g.135765088C>G | CA375500030 | KCNT1 | c.1093C>G (p.Arg365Gly) c.934C>G (p.Arg312Gly) c.841C>G (p.Arg281Gly) c.850C>G (p.Arg284Gly) c.994C>G (p.Arg332Gly) c.*703C>G (n.*703C>G) c.976C>G (p.Arg326Gly) c.1036C>G (p.Arg346Gly) n.912C>G c.958C>G (p.Arg320Gly) c.1228C>G (p.Arg410Gly) c.1237C>G (p.Arg413Gly) c.583C>G (p.Arg195Gly) c.1027C>G (p.Arg343Gly) | |
| 9 | g.135765088C>T | CA5326769 | KCNT1 | c.1093C>T (p.Arg365Cys) c.934C>T (p.Arg312Cys) c.841C>T (p.Arg281Cys) c.850C>T (p.Arg284Cys) c.994C>T (p.Arg332Cys) c.*703C>T (n.*703C>T) c.976C>T (p.Arg326Cys) c.1036C>T (p.Arg346Cys) n.912C>T c.958C>T (p.Arg320Cys) c.1228C>T (p.Arg410Cys) c.1237C>T (p.Arg413Cys) c.583C>T (p.Arg195Cys) c.1027C>T (p.Arg343Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.135765089G>A | CA201465142 | KCNT1 | c.1094G>A (p.Arg365His) c.935G>A (p.Arg312His) c.842G>A (p.Arg281His) c.851G>A (p.Arg284His) c.995G>A (p.Arg332His) c.*704G>A (n.*704G>A) c.977G>A (p.Arg326His) c.1037G>A (p.Arg346His) n.913G>A c.959G>A (p.Arg320His) c.1229G>A (p.Arg410His) c.1238G>A (p.Arg413His) c.584G>A (p.Arg195His) c.1028G>A (p.Arg343His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765089G>C | CA375500036 | KCNT1 | c.1094G>C (p.Arg365Pro) c.935G>C (p.Arg312Pro) c.842G>C (p.Arg281Pro) c.851G>C (p.Arg284Pro) c.995G>C (p.Arg332Pro) c.*704G>C (n.*704G>C) c.977G>C (p.Arg326Pro) c.1037G>C (p.Arg346Pro) n.913G>C c.959G>C (p.Arg320Pro) c.1229G>C (p.Arg410Pro) c.1238G>C (p.Arg413Pro) c.584G>C (p.Arg195Pro) c.1028G>C (p.Arg343Pro) | |
| 9 | g.135765089G= | CA1883866308 | KCNT1 | c.1094G= (p.Arg365=) c.935G= (p.Arg312=) c.842G= (p.Arg281=) c.851G= (p.Arg284=) c.995G= (p.Arg332=) c.*704G= (n.*704G=) c.977G= (p.Arg326=) c.1037G= (p.Arg346=) n.913G= c.959G= (p.Arg320=) c.1229G= (p.Arg410=) c.1238G= (p.Arg413=) c.584G= (p.Arg195=) c.1028G= (p.Arg343=) | |
| 9 | g.135765089G>T | CA375500034 | KCNT1 | c.1094G>T (p.Arg365Leu) c.935G>T (p.Arg312Leu) c.842G>T (p.Arg281Leu) c.851G>T (p.Arg284Leu) c.995G>T (p.Arg332Leu) c.*704G>T (n.*704G>T) c.977G>T (p.Arg326Leu) c.1037G>T (p.Arg346Leu) n.913G>T c.959G>T (p.Arg320Leu) c.1229G>T (p.Arg410Leu) c.1238G>T (p.Arg413Leu) c.584G>T (p.Arg195Leu) c.1028G>T (p.Arg343Leu) | ClinVar |
| 9 | g.135765090C>A | CA467698027 | KCNT1 | c.1095C>A (p.Arg365=) c.936C>A (p.Arg312=) c.843C>A (p.Arg281=) c.852C>A (p.Arg284=) c.996C>A (p.Arg332=) c.*705C>A (n.*705C>A) c.978C>A (p.Arg326=) c.1038C>A (p.Arg346=) n.914C>A c.960C>A (p.Arg320=) c.1230C>A (p.Arg410=) c.1239C>A (p.Arg413=) c.585C>A (p.Arg195=) c.1029C>A (p.Arg343=) | |
| 9 | g.135765090C= | CA1883866309 | KCNT1 | c.1095C= (p.Arg365=) c.936C= (p.Arg312=) c.843C= (p.Arg281=) c.852C= (p.Arg284=) c.996C= (p.Arg332=) c.*705C= (n.*705C=) c.978C= (p.Arg326=) c.1038C= (p.Arg346=) n.914C= c.960C= (p.Arg320=) c.1230C= (p.Arg410=) c.1239C= (p.Arg413=) c.585C= (p.Arg195=) c.1029C= (p.Arg343=) | |
| 9 | g.135765090C>G | CA467698028 | KCNT1 | c.1095C>G (p.Arg365=) c.936C>G (p.Arg312=) c.843C>G (p.Arg281=) c.852C>G (p.Arg284=) c.996C>G (p.Arg332=) c.*705C>G (n.*705C>G) c.978C>G (p.Arg326=) c.1038C>G (p.Arg346=) n.914C>G c.960C>G (p.Arg320=) c.1230C>G (p.Arg410=) c.1239C>G (p.Arg413=) c.585C>G (p.Arg195=) c.1029C>G (p.Arg343=) | |
| 9 | g.135765090C>T | CA5326770 | KCNT1 | c.1095C>T (p.Arg365=) c.936C>T (p.Arg312=) c.843C>T (p.Arg281=) c.852C>T (p.Arg284=) c.996C>T (p.Arg332=) c.*705C>T (n.*705C>T) c.978C>T (p.Arg326=) c.1038C>T (p.Arg346=) n.914C>T c.960C>T (p.Arg320=) c.1230C>T (p.Arg410=) c.1239C>T (p.Arg413=) c.585C>T (p.Arg195=) c.1029C>T (p.Arg343=) | dbSNP ExAC gnomAD v2 |
| 9 | g.135765091dup | CA2953904974 | KCNT1 | c.1096dup (p.His366ProfsTer?) c.937dup (p.His313ProfsTer?) c.844dup (p.His282ProfsTer?) c.853dup (p.His285ProfsTer?) c.997dup (p.His333ProfsTer?) c.*706dup (n.*706dup) c.979dup (p.His327ProfsTer?) c.1039dup (p.His347ProfsTer?) n.915dup c.961dup (p.His321ProfsTer?) c.1231dup (p.His411ProfsTer?) c.1240dup (p.His414ProfsTer?) c.586dup (p.His196ProfsTer?) c.1030dup (p.His344ProfsTer?) | |
| 9 | g.135765091C>A | CA375500039 | KCNT1 | c.1096C>A (p.His366Asn) c.937C>A (p.His313Asn) c.844C>A (p.His282Asn) c.853C>A (p.His285Asn) c.997C>A (p.His333Asn) c.*706C>A (n.*706C>A) c.979C>A (p.His327Asn) c.1039C>A (p.His347Asn) n.915C>A c.961C>A (p.His321Asn) c.1231C>A (p.His411Asn) c.1240C>A (p.His414Asn) c.586C>A (p.His196Asn) c.1030C>A (p.His344Asn) | |
| 9 | g.135765091C>G | CA375500040 | KCNT1 | c.1096C>G (p.His366Asp) c.937C>G (p.His313Asp) c.844C>G (p.His282Asp) c.853C>G (p.His285Asp) c.997C>G (p.His333Asp) c.*706C>G (n.*706C>G) c.979C>G (p.His327Asp) c.1039C>G (p.His347Asp) n.915C>G c.961C>G (p.His321Asp) c.1231C>G (p.His411Asp) c.1240C>G (p.His414Asp) c.586C>G (p.His196Asp) c.1030C>G (p.His344Asp) | |
| 9 | g.135765091C>T | CA375500042 | KCNT1 | c.1096C>T (p.His366Tyr) c.937C>T (p.His313Tyr) c.844C>T (p.His282Tyr) c.853C>T (p.His285Tyr) c.997C>T (p.His333Tyr) c.*706C>T (n.*706C>T) c.979C>T (p.His327Tyr) c.1039C>T (p.His347Tyr) n.915C>T c.961C>T (p.His321Tyr) c.1231C>T (p.His411Tyr) c.1240C>T (p.His414Tyr) c.586C>T (p.His196Tyr) c.1030C>T (p.His344Tyr) | |
| 9 | g.135765092A>C | CA375500045 | KCNT1 | c.1097A>C (p.His366Pro) c.938A>C (p.His313Pro) c.845A>C (p.His282Pro) c.854A>C (p.His285Pro) c.998A>C (p.His333Pro) c.*707A>C (n.*707A>C) c.980A>C (p.His327Pro) c.1040A>C (p.His347Pro) n.916A>C c.962A>C (p.His321Pro) c.1232A>C (p.His411Pro) c.1241A>C (p.His414Pro) c.587A>C (p.His196Pro) c.1031A>C (p.His344Pro) | |
| 9 | g.135765092A>G | CA375500048 | KCNT1 | c.1097A>G (p.His366Arg) c.938A>G (p.His313Arg) c.845A>G (p.His282Arg) c.854A>G (p.His285Arg) c.998A>G (p.His333Arg) c.*707A>G (n.*707A>G) c.980A>G (p.His327Arg) c.1040A>G (p.His347Arg) n.916A>G c.962A>G (p.His321Arg) c.1232A>G (p.His411Arg) c.1241A>G (p.His414Arg) c.587A>G (p.His196Arg) c.1031A>G (p.His344Arg) | |
| 9 | g.135765092A>T | CA375500046 | KCNT1 | c.1097A>T (p.His366Leu) c.938A>T (p.His313Leu) c.845A>T (p.His282Leu) c.854A>T (p.His285Leu) c.998A>T (p.His333Leu) c.*707A>T (n.*707A>T) c.980A>T (p.His327Leu) c.1040A>T (p.His347Leu) n.916A>T c.962A>T (p.His321Leu) c.1232A>T (p.His411Leu) c.1241A>T (p.His414Leu) c.587A>T (p.His196Leu) c.1031A>T (p.His344Leu) | |
| 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) |