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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | dbSNP |
| 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=) | |
| 9 | g.135765106G>A | CA375500099 | KCNT1 | c.1111G>A (p.Glu371Lys) c.952G>A (p.Glu318Lys) c.859G>A (p.Glu287Lys) c.868G>A (p.Glu290Lys) c.1012G>A (p.Glu338Lys) c.*721G>A (n.*721G>A) c.994G>A (p.Glu332Lys) c.1054G>A (p.Glu352Lys) n.930G>A c.976G>A (p.Glu326Lys) c.1246G>A (p.Glu416Lys) c.1255G>A (p.Glu419Lys) c.601G>A (p.Glu201Lys) c.1045G>A (p.Glu349Lys) | |
| 9 | g.135765106G>C | CA375500101 | KCNT1 | c.1111G>C (p.Glu371Gln) c.952G>C (p.Glu318Gln) c.859G>C (p.Glu287Gln) c.868G>C (p.Glu290Gln) c.1012G>C (p.Glu338Gln) c.*721G>C (n.*721G>C) c.994G>C (p.Glu332Gln) c.1054G>C (p.Glu352Gln) n.930G>C c.976G>C (p.Glu326Gln) c.1246G>C (p.Glu416Gln) c.1255G>C (p.Glu419Gln) c.601G>C (p.Glu201Gln) c.1045G>C (p.Glu349Gln) | |
| 9 | g.135765106G>T | CA375500103 | KCNT1 | c.1111G>T (p.Glu371Ter) c.952G>T (p.Glu318Ter) c.859G>T (p.Glu287Ter) c.868G>T (p.Glu290Ter) c.1012G>T (p.Glu338Ter) c.*721G>T (n.*721G>T) c.994G>T (p.Glu332Ter) c.1054G>T (p.Glu352Ter) n.930G>T c.976G>T (p.Glu326Ter) c.1246G>T (p.Glu416Ter) c.1255G>T (p.Glu419Ter) c.601G>T (p.Glu201Ter) c.1045G>T (p.Glu349Ter) | |
| 9 | g.135765107A>C | CA375500105 | KCNT1 | c.1112A>C (p.Glu371Ala) c.953A>C (p.Glu318Ala) c.860A>C (p.Glu287Ala) c.869A>C (p.Glu290Ala) c.1013A>C (p.Glu338Ala) c.*722A>C (n.*722A>C) c.995A>C (p.Glu332Ala) c.1055A>C (p.Glu352Ala) n.931A>C c.977A>C (p.Glu326Ala) c.1247A>C (p.Glu416Ala) c.1256A>C (p.Glu419Ala) c.602A>C (p.Glu201Ala) c.1046A>C (p.Glu349Ala) | |
| 9 | g.135765107A>G | CA375500106 | KCNT1 | c.1112A>G (p.Glu371Gly) c.953A>G (p.Glu318Gly) c.860A>G (p.Glu287Gly) c.869A>G (p.Glu290Gly) c.1013A>G (p.Glu338Gly) c.*722A>G (n.*722A>G) c.995A>G (p.Glu332Gly) c.1055A>G (p.Glu352Gly) n.931A>G c.977A>G (p.Glu326Gly) c.1247A>G (p.Glu416Gly) c.1256A>G (p.Glu419Gly) c.602A>G (p.Glu201Gly) c.1046A>G (p.Glu349Gly) | |
| 9 | g.135765107A>T | CA375500109 | KCNT1 | c.1112A>T (p.Glu371Val) c.953A>T (p.Glu318Val) c.860A>T (p.Glu287Val) c.869A>T (p.Glu290Val) c.1013A>T (p.Glu338Val) c.*722A>T (n.*722A>T) c.995A>T (p.Glu332Val) c.1055A>T (p.Glu352Val) n.931A>T c.977A>T (p.Glu326Val) c.1247A>T (p.Glu416Val) c.1256A>T (p.Glu419Val) c.602A>T (p.Glu201Val) c.1046A>T (p.Glu349Val) | |
| 9 | g.135765108G>A | CA467698043 | KCNT1 | c.1113G>A (p.Glu371=) c.954G>A (p.Glu318=) c.861G>A (p.Glu287=) c.870G>A (p.Glu290=) c.1014G>A (p.Glu338=) c.*723G>A (n.*723G>A) c.996G>A (p.Glu332=) c.1056G>A (p.Glu352=) n.932G>A c.978G>A (p.Glu326=) c.1248G>A (p.Glu416=) c.1257G>A (p.Glu419=) c.603G>A (p.Glu201=) c.1047G>A (p.Glu349=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135765108G>C | CA375500111 | KCNT1 | c.1113G>C (p.Glu371Asp) c.954G>C (p.Glu318Asp) c.861G>C (p.Glu287Asp) c.870G>C (p.Glu290Asp) c.1014G>C (p.Glu338Asp) c.*723G>C (n.*723G>C) c.996G>C (p.Glu332Asp) c.1056G>C (p.Glu352Asp) n.932G>C c.978G>C (p.Glu326Asp) c.1248G>C (p.Glu416Asp) c.1257G>C (p.Glu419Asp) c.603G>C (p.Glu201Asp) c.1047G>C (p.Glu349Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135765108G= | CA1883866320 | KCNT1 | c.1113G= (p.Glu371=) c.954G= (p.Glu318=) c.861G= (p.Glu287=) c.870G= (p.Glu290=) c.1014G= (p.Glu338=) c.*723G= (n.*723G=) c.996G= (p.Glu332=) c.1056G= (p.Glu352=) n.932G= c.978G= (p.Glu326=) c.1248G= (p.Glu416=) c.1257G= (p.Glu419=) c.603G= (p.Glu201=) c.1047G= (p.Glu349=) | dbSNP |
| 9 | g.135765108G>T | CA375500112 | KCNT1 | c.1113G>T (p.Glu371Asp) c.954G>T (p.Glu318Asp) c.861G>T (p.Glu287Asp) c.870G>T (p.Glu290Asp) c.1014G>T (p.Glu338Asp) c.*723G>T (n.*723G>T) c.996G>T (p.Glu332Asp) c.1056G>T (p.Glu352Asp) n.932G>T c.978G>T (p.Glu326Asp) c.1248G>T (p.Glu416Asp) c.1257G>T (p.Glu419Asp) c.603G>T (p.Glu201Asp) c.1047G>T (p.Glu349Asp) | |
| 9 | g.135765109A>C | CA375500115 | KCNT1 | c.1114A>C (p.Lys372Gln) c.955A>C (p.Lys319Gln) c.862A>C (p.Lys288Gln) c.871A>C (p.Lys291Gln) c.1015A>C (p.Lys339Gln) c.*724A>C (n.*724A>C) c.997A>C (p.Lys333Gln) c.1057A>C (p.Lys353Gln) n.933A>C c.979A>C (p.Lys327Gln) c.1249A>C (p.Lys417Gln) c.1258A>C (p.Lys420Gln) c.604A>C (p.Lys202Gln) c.1048A>C (p.Lys350Gln) | |
| 9 | g.135765109A>G | CA375500117 | KCNT1 | c.1114A>G (p.Lys372Glu) c.955A>G (p.Lys319Glu) c.862A>G (p.Lys288Glu) c.871A>G (p.Lys291Glu) c.1015A>G (p.Lys339Glu) c.*724A>G (n.*724A>G) c.997A>G (p.Lys333Glu) c.1057A>G (p.Lys353Glu) n.933A>G c.979A>G (p.Lys327Glu) c.1249A>G (p.Lys417Glu) c.1258A>G (p.Lys420Glu) c.604A>G (p.Lys202Glu) c.1048A>G (p.Lys350Glu) | |
| 9 | g.135765109A>T | CA375500118 | KCNT1 | c.1114A>T (p.Lys372Ter) c.955A>T (p.Lys319Ter) c.862A>T (p.Lys288Ter) c.871A>T (p.Lys291Ter) c.1015A>T (p.Lys339Ter) c.*724A>T (n.*724A>T) c.997A>T (p.Lys333Ter) c.1057A>T (p.Lys353Ter) n.933A>T c.979A>T (p.Lys327Ter) c.1249A>T (p.Lys417Ter) c.1258A>T (p.Lys420Ter) c.604A>T (p.Lys202Ter) c.1048A>T (p.Lys350Ter) | |
| 9 | g.135765110A= | CA3168868867 | KCNT1 | c.1115A= (p.Lys372=) c.956A= (p.Lys319=) c.863A= (p.Lys288=) c.872A= (p.Lys291=) c.1016A= (p.Lys339=) c.*725A= (n.*725A=) c.998A= (p.Lys333=) c.1058A= (p.Lys353=) n.934A= c.980A= (p.Lys327=) c.1250A= (p.Lys417=) c.1259A= (p.Lys420=) c.605A= (p.Lys202=) c.1049A= (p.Lys350=) | dbSNP |
| 9 | g.135765110A>C | CA375500121 | KCNT1 | c.1115A>C (p.Lys372Thr) c.956A>C (p.Lys319Thr) c.863A>C (p.Lys288Thr) c.872A>C (p.Lys291Thr) c.1016A>C (p.Lys339Thr) c.*725A>C (n.*725A>C) c.998A>C (p.Lys333Thr) c.1058A>C (p.Lys353Thr) n.934A>C c.980A>C (p.Lys327Thr) c.1250A>C (p.Lys417Thr) c.1259A>C (p.Lys420Thr) c.605A>C (p.Lys202Thr) c.1049A>C (p.Lys350Thr) | |
| 9 | g.135765110A>G | CA375500124 | KCNT1 | c.1115A>G (p.Lys372Arg) c.956A>G (p.Lys319Arg) c.863A>G (p.Lys288Arg) c.872A>G (p.Lys291Arg) c.1016A>G (p.Lys339Arg) c.*725A>G (n.*725A>G) c.998A>G (p.Lys333Arg) c.1058A>G (p.Lys353Arg) n.934A>G c.980A>G (p.Lys327Arg) c.1250A>G (p.Lys417Arg) c.1259A>G (p.Lys420Arg) c.605A>G (p.Lys202Arg) c.1049A>G (p.Lys350Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135765110A>T | CA375500122 | KCNT1 | c.1115A>T (p.Lys372Met) c.956A>T (p.Lys319Met) c.863A>T (p.Lys288Met) c.872A>T (p.Lys291Met) c.1016A>T (p.Lys339Met) c.*725A>T (n.*725A>T) c.998A>T (p.Lys333Met) c.1058A>T (p.Lys353Met) n.934A>T c.980A>T (p.Lys327Met) c.1250A>T (p.Lys417Met) c.1259A>T (p.Lys420Met) c.605A>T (p.Lys202Met) c.1049A>T (p.Lys350Met) | |
| 9 | g.135765111G>A | CA5326775 | KCNT1 | c.1116G>A (p.Lys372=) c.957G>A (p.Lys319=) c.864G>A (p.Lys288=) c.873G>A (p.Lys291=) c.1017G>A (p.Lys339=) c.*726G>A (n.*726G>A) c.999G>A (p.Lys333=) c.1059G>A (p.Lys353=) n.935G>A c.981G>A (p.Lys327=) c.1251G>A (p.Lys417=) c.1260G>A (p.Lys420=) c.606G>A (p.Lys202=) c.1050G>A (p.Lys350=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765111G>C | CA375500130 | KCNT1 | c.1116G>C (p.Lys372Asn) c.957G>C (p.Lys319Asn) c.864G>C (p.Lys288Asn) c.873G>C (p.Lys291Asn) c.1017G>C (p.Lys339Asn) c.*726G>C (n.*726G>C) c.999G>C (p.Lys333Asn) c.1059G>C (p.Lys353Asn) n.935G>C c.981G>C (p.Lys327Asn) c.1251G>C (p.Lys417Asn) c.1260G>C (p.Lys420Asn) c.606G>C (p.Lys202Asn) c.1050G>C (p.Lys350Asn) | |
| 9 | g.135765111G= | CA1883866321 | KCNT1 | c.1116G= (p.Lys372=) c.957G= (p.Lys319=) c.864G= (p.Lys288=) c.873G= (p.Lys291=) c.1017G= (p.Lys339=) c.*726G= (n.*726G=) c.999G= (p.Lys333=) c.1059G= (p.Lys353=) n.935G= c.981G= (p.Lys327=) c.1251G= (p.Lys417=) c.1260G= (p.Lys420=) c.606G= (p.Lys202=) c.1050G= (p.Lys350=) | dbSNP |
| 9 | g.135765111G>T | CA375500128 | KCNT1 | c.1116G>T (p.Lys372Asn) c.957G>T (p.Lys319Asn) c.864G>T (p.Lys288Asn) c.873G>T (p.Lys291Asn) c.1017G>T (p.Lys339Asn) c.*726G>T (n.*726G>T) c.999G>T (p.Lys333Asn) c.1059G>T (p.Lys353Asn) n.935G>T c.981G>T (p.Lys327Asn) c.1251G>T (p.Lys417Asn) c.1260G>T (p.Lys420Asn) c.606G>T (p.Lys202Asn) c.1050G>T (p.Lys350Asn) | |
| 9 | g.135765112C>A | CA375500131 | KCNT1 | c.1117C>A (p.His373Asn) c.958C>A (p.His320Asn) c.865C>A (p.His289Asn) c.874C>A (p.His292Asn) c.1018C>A (p.His340Asn) c.*727C>A (n.*727C>A) c.1000C>A (p.His334Asn) c.1060C>A (p.His354Asn) n.936C>A c.982C>A (p.His328Asn) c.1252C>A (p.His418Asn) c.1261C>A (p.His421Asn) c.607C>A (p.His203Asn) c.1051C>A (p.His351Asn) | COSMIC |
| 9 | g.135765112C= | CA1883866322 | KCNT1 | c.1117C= (p.His373=) c.958C= (p.His320=) c.865C= (p.His289=) c.874C= (p.His292=) c.1018C= (p.His340=) c.*727C= (n.*727C=) c.1000C= (p.His334=) c.1060C= (p.His354=) n.936C= c.982C= (p.His328=) c.1252C= (p.His418=) c.1261C= (p.His421=) c.607C= (p.His203=) c.1051C= (p.His351=) | dbSNP |
| 9 | g.135765112C>G | CA375500132 | KCNT1 | c.1117C>G (p.His373Asp) c.958C>G (p.His320Asp) c.865C>G (p.His289Asp) c.874C>G (p.His292Asp) c.1018C>G (p.His340Asp) c.*727C>G (n.*727C>G) c.1000C>G (p.His334Asp) c.1060C>G (p.His354Asp) n.936C>G c.982C>G (p.His328Asp) c.1252C>G (p.His418Asp) c.1261C>G (p.His421Asp) c.607C>G (p.His203Asp) c.1051C>G (p.His351Asp) | |
| 9 | g.135765112C>T | CA201465181 | KCNT1 | c.1117C>T (p.His373Tyr) c.958C>T (p.His320Tyr) c.865C>T (p.His289Tyr) c.874C>T (p.His292Tyr) c.1018C>T (p.His340Tyr) c.*727C>T (n.*727C>T) c.1000C>T (p.His334Tyr) c.1060C>T (p.His354Tyr) n.936C>T c.982C>T (p.His328Tyr) c.1252C>T (p.His418Tyr) c.1261C>T (p.His421Tyr) c.607C>T (p.His203Tyr) c.1051C>T (p.His351Tyr) | dbSNP gnomAD v4 |
| 9 | g.135765113A= | CA1883866323 | KCNT1 | c.1118A= (p.His373=) c.959A= (p.His320=) c.866A= (p.His289=) c.875A= (p.His292=) c.1019A= (p.His340=) c.*728A= (n.*728A=) c.1001A= (p.His334=) c.1061A= (p.His354=) n.937A= c.983A= (p.His328=) c.1253A= (p.His418=) c.1262A= (p.His421=) c.608A= (p.His203=) c.1052A= (p.His351=) | dbSNP |
| 9 | g.135765113A>C | CA375500133 | KCNT1 | c.1118A>C (p.His373Pro) c.959A>C (p.His320Pro) c.866A>C (p.His289Pro) c.875A>C (p.His292Pro) c.1019A>C (p.His340Pro) c.*728A>C (n.*728A>C) c.1001A>C (p.His334Pro) c.1061A>C (p.His354Pro) n.937A>C c.983A>C (p.His328Pro) c.1253A>C (p.His418Pro) c.1262A>C (p.His421Pro) c.608A>C (p.His203Pro) c.1052A>C (p.His351Pro) | |
| 9 | g.135765113A>G | CA375500134 | KCNT1 | c.1118A>G (p.His373Arg) c.959A>G (p.His320Arg) c.866A>G (p.His289Arg) c.875A>G (p.His292Arg) c.1019A>G (p.His340Arg) c.*728A>G (n.*728A>G) c.1001A>G (p.His334Arg) c.1061A>G (p.His354Arg) n.937A>G c.983A>G (p.His328Arg) c.1253A>G (p.His418Arg) c.1262A>G (p.His421Arg) c.608A>G (p.His203Arg) c.1052A>G (p.His351Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135765113A>T | CA375500135 | KCNT1 | c.1118A>T (p.His373Leu) c.959A>T (p.His320Leu) c.866A>T (p.His289Leu) c.875A>T (p.His292Leu) c.1019A>T (p.His340Leu) c.*728A>T (n.*728A>T) c.1001A>T (p.His334Leu) c.1061A>T (p.His354Leu) n.937A>T c.983A>T (p.His328Leu) c.1253A>T (p.His418Leu) c.1262A>T (p.His421Leu) c.608A>T (p.His203Leu) c.1052A>T (p.His351Leu) | |
| 9 | g.135765113_135765116dup | CA2692516082 | KCNT1 | c.1118_1121dup (p.Val375ArgfsTer?) c.959_962dup (p.Val322ArgfsTer?) c.866_869dup (p.Val291ArgfsTer?) c.875_878dup (p.Val294ArgfsTer?) c.1019_1022dup (p.Val342ArgfsTer?) c.*728_*731dup (n.*728_*731dup) c.1001_1004dup (p.Val336ArgfsTer?) c.1061_1064dup (p.Val356ArgfsTer?) n.937_940dup c.983_986dup (p.Val330ArgfsTer?) c.1253_1256dup (p.Val420ArgfsTer?) c.1262_1265dup (p.Val423ArgfsTer?) c.608_611dup (p.Val205ArgfsTer?) c.1052_1055dup (p.Val353ArgfsTer?) | dbSNP gnomAD v4 |
| 9 | g.135765114C>A | CA375500136 | KCNT1 | c.1119C>A (p.His373Gln) c.960C>A (p.His320Gln) c.867C>A (p.His289Gln) c.876C>A (p.His292Gln) c.1020C>A (p.His340Gln) c.*729C>A (n.*729C>A) c.1002C>A (p.His334Gln) c.1062C>A (p.His354Gln) n.938C>A c.984C>A (p.His328Gln) c.1254C>A (p.His418Gln) c.1263C>A (p.His421Gln) c.609C>A (p.His203Gln) c.1053C>A (p.His351Gln) | |
| 9 | g.135765114C= | CA1883866324 | KCNT1 | c.1119C= (p.His373=) c.960C= (p.His320=) c.867C= (p.His289=) c.876C= (p.His292=) c.1020C= (p.His340=) c.*729C= (n.*729C=) c.1002C= (p.His334=) c.1062C= (p.His354=) n.938C= c.984C= (p.His328=) c.1254C= (p.His418=) c.1263C= (p.His421=) c.609C= (p.His203=) c.1053C= (p.His351=) | dbSNP |
| 9 | g.135765114C>G | CA375500137 | KCNT1 | c.1119C>G (p.His373Gln) c.960C>G (p.His320Gln) c.867C>G (p.His289Gln) c.876C>G (p.His292Gln) c.1020C>G (p.His340Gln) c.*729C>G (n.*729C>G) c.1002C>G (p.His334Gln) c.1062C>G (p.His354Gln) n.938C>G c.984C>G (p.His328Gln) c.1254C>G (p.His418Gln) c.1263C>G (p.His421Gln) c.609C>G (p.His203Gln) c.1053C>G (p.His351Gln) | |
| 9 | g.135765114C>T | CA201465186 | KCNT1 | c.1119C>T (p.His373=) c.960C>T (p.His320=) c.867C>T (p.His289=) c.876C>T (p.His292=) c.1020C>T (p.His340=) c.*729C>T (n.*729C>T) c.1002C>T (p.His334=) c.1062C>T (p.His354=) n.938C>T c.984C>T (p.His328=) c.1254C>T (p.His418=) c.1263C>T (p.His421=) c.609C>T (p.His203=) c.1053C>T (p.His351=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.135765115G>A | CA375500138 | KCNT1 | c.1120G>A (p.Val374Met) c.961G>A (p.Val321Met) c.868G>A (p.Val290Met) c.877G>A (p.Val293Met) c.1021G>A (p.Val341Met) c.*730G>A (n.*730G>A) c.1003G>A (p.Val335Met) c.1063G>A (p.Val355Met) n.939G>A c.985G>A (p.Val329Met) c.1255G>A (p.Val419Met) c.1264G>A (p.Val422Met) c.610G>A (p.Val204Met) c.1054G>A (p.Val352Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765115G>C | CA375500139 | KCNT1 | c.1120G>C (p.Val374Leu) c.961G>C (p.Val321Leu) c.868G>C (p.Val290Leu) c.877G>C (p.Val293Leu) c.1021G>C (p.Val341Leu) c.*730G>C (n.*730G>C) c.1003G>C (p.Val335Leu) c.1063G>C (p.Val355Leu) n.939G>C c.985G>C (p.Val329Leu) c.1255G>C (p.Val419Leu) c.1264G>C (p.Val422Leu) c.610G>C (p.Val204Leu) c.1054G>C (p.Val352Leu) | dbSNP |
| 9 | g.135765115G= | CA1883866325 | KCNT1 | c.1120G= (p.Val374=) c.961G= (p.Val321=) c.868G= (p.Val290=) c.877G= (p.Val293=) c.1021G= (p.Val341=) c.*730G= (n.*730G=) c.1003G= (p.Val335=) c.1063G= (p.Val355=) n.939G= c.985G= (p.Val329=) c.1255G= (p.Val419=) c.1264G= (p.Val422=) c.610G= (p.Val204=) c.1054G= (p.Val352=) | dbSNP |
| 9 | g.135765115G>T | CA375500140 | KCNT1 | c.1120G>T (p.Val374Leu) c.961G>T (p.Val321Leu) c.868G>T (p.Val290Leu) c.877G>T (p.Val293Leu) c.1021G>T (p.Val341Leu) c.*730G>T (n.*730G>T) c.1003G>T (p.Val335Leu) c.1063G>T (p.Val355Leu) n.939G>T c.985G>T (p.Val329Leu) c.1255G>T (p.Val419Leu) c.1264G>T (p.Val422Leu) c.610G>T (p.Val204Leu) c.1054G>T (p.Val352Leu) | |
| 9 | g.135765116T>A | CA375500146 | KCNT1 | c.1121T>A (p.Val374Glu) c.962T>A (p.Val321Glu) c.869T>A (p.Val290Glu) c.878T>A (p.Val293Glu) c.1022T>A (p.Val341Glu) c.*731T>A (n.*731T>A) c.1004T>A (p.Val335Glu) c.1064T>A (p.Val355Glu) n.940T>A c.986T>A (p.Val329Glu) c.1256T>A (p.Val419Glu) c.1265T>A (p.Val422Glu) c.611T>A (p.Val204Glu) c.1055T>A (p.Val352Glu) | |
| 9 | g.135765116T>C | CA375500142 | KCNT1 | c.1121T>C (p.Val374Ala) c.962T>C (p.Val321Ala) c.869T>C (p.Val290Ala) c.878T>C (p.Val293Ala) c.1022T>C (p.Val341Ala) c.*731T>C (n.*731T>C) c.1004T>C (p.Val335Ala) c.1064T>C (p.Val355Ala) n.940T>C c.986T>C (p.Val329Ala) c.1256T>C (p.Val419Ala) c.1265T>C (p.Val422Ala) c.611T>C (p.Val204Ala) c.1055T>C (p.Val352Ala) | |
| 9 | g.135765116T>G | CA375500144 | KCNT1 | c.1121T>G (p.Val374Gly) c.962T>G (p.Val321Gly) c.869T>G (p.Val290Gly) c.878T>G (p.Val293Gly) c.1022T>G (p.Val341Gly) c.*731T>G (n.*731T>G) c.1004T>G (p.Val335Gly) c.1064T>G (p.Val355Gly) n.940T>G c.986T>G (p.Val329Gly) c.1256T>G (p.Val419Gly) c.1265T>G (p.Val422Gly) c.611T>G (p.Val204Gly) c.1055T>G (p.Val352Gly) | |
| 9 | g.135765117G>A | CA5326776 | KCNT1 | c.1122G>A (p.Val374=) c.963G>A (p.Val321=) c.870G>A (p.Val290=) c.879G>A (p.Val293=) c.1023G>A (p.Val341=) c.*732G>A (n.*732G>A) c.1005G>A (p.Val335=) c.1065G>A (p.Val355=) n.941G>A c.987G>A (p.Val329=) c.1257G>A (p.Val419=) c.1266G>A (p.Val422=) c.612G>A (p.Val204=) c.1056G>A (p.Val352=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765117G>C | CA467698048 | KCNT1 | c.1122G>C (p.Val374=) c.963G>C (p.Val321=) c.870G>C (p.Val290=) c.879G>C (p.Val293=) c.1023G>C (p.Val341=) c.*732G>C (n.*732G>C) c.1005G>C (p.Val335=) c.1065G>C (p.Val355=) n.941G>C c.987G>C (p.Val329=) c.1257G>C (p.Val419=) c.1266G>C (p.Val422=) c.612G>C (p.Val204=) c.1056G>C (p.Val352=) | |
| 9 | g.135765117G= | CA1883866326 | KCNT1 | c.1122G= (p.Val374=) c.963G= (p.Val321=) c.870G= (p.Val290=) c.879G= (p.Val293=) c.1023G= (p.Val341=) c.*732G= (n.*732G=) c.1005G= (p.Val335=) c.1065G= (p.Val355=) n.941G= c.987G= (p.Val329=) c.1257G= (p.Val419=) c.1266G= (p.Val422=) c.612G= (p.Val204=) c.1056G= (p.Val352=) | dbSNP |
| 9 | g.135765117G>T | CA5326777 | KCNT1 | c.1122G>T (p.Val374=) c.963G>T (p.Val321=) c.870G>T (p.Val290=) c.879G>T (p.Val293=) c.1023G>T (p.Val341=) c.*732G>T (n.*732G>T) c.1005G>T (p.Val335=) c.1065G>T (p.Val355=) n.941G>T c.987G>T (p.Val329=) c.1257G>T (p.Val419=) c.1266G>T (p.Val422=) c.612G>T (p.Val204=) c.1056G>T (p.Val352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765118del | CA2720685095 | KCNT1 | c.1123del (p.Val375SerfsTer16) c.964del (p.Val322SerfsTer16) c.871del (p.Val291SerfsTer16) c.880del (p.Val294SerfsTer16) c.1024del (p.Val342SerfsTer16) c.*733del (n.*733del) c.1006del (p.Val336SerfsTer16) c.1066del (p.Val356SerfsTer16) n.942del c.988del (p.Val330SerfsTer16) c.1258del (p.Val420SerfsTer16) c.1267del (p.Val423SerfsTer16) c.613del (p.Val205SerfsTer16) c.1057del (p.Val353SerfsTer16) | dbSNP |