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.135765632C>A | CA375501035 | KCNT1 | c.1209C>A (p.Tyr403Ter) c.1050C>A (p.Tyr350Ter) c.957C>A (p.Tyr319Ter) c.966C>A (p.Tyr322Ter) c.1110C>A (p.Tyr370Ter) c.*819C>A (n.*819C>A) c.1092C>A (p.Tyr364Ter) c.1152C>A (p.Tyr384Ter) n.1028C>A c.1074C>A (p.Tyr358Ter) c.1344C>A (p.Tyr448Ter) c.1353C>A (p.Tyr451Ter) c.699C>A (p.Tyr233Ter) c.1143C>A (p.Tyr381Ter) | |
| 9 | g.135765632C= | CA1883866661 | KCNT1 | c.1209C= (p.Tyr403=) c.1050C= (p.Tyr350=) c.957C= (p.Tyr319=) c.966C= (p.Tyr322=) c.1110C= (p.Tyr370=) c.*819C= (n.*819C=) c.1092C= (p.Tyr364=) c.1152C= (p.Tyr384=) n.1028C= c.1074C= (p.Tyr358=) c.1344C= (p.Tyr448=) c.1353C= (p.Tyr451=) c.699C= (p.Tyr233=) c.1143C= (p.Tyr381=) | |
| 9 | g.135765632C>G | CA375501037 | KCNT1 | c.1209C>G (p.Tyr403Ter) c.1050C>G (p.Tyr350Ter) c.957C>G (p.Tyr319Ter) c.966C>G (p.Tyr322Ter) c.1110C>G (p.Tyr370Ter) c.*819C>G (n.*819C>G) c.1092C>G (p.Tyr364Ter) c.1152C>G (p.Tyr384Ter) n.1028C>G c.1074C>G (p.Tyr358Ter) c.1344C>G (p.Tyr448Ter) c.1353C>G (p.Tyr451Ter) c.699C>G (p.Tyr233Ter) c.1143C>G (p.Tyr381Ter) | |
| 9 | g.135765632C>T | CA5326827 | KCNT1 | c.1209C>T (p.Tyr403=) c.1050C>T (p.Tyr350=) c.957C>T (p.Tyr319=) c.966C>T (p.Tyr322=) c.1110C>T (p.Tyr370=) c.*819C>T (n.*819C>T) c.1092C>T (p.Tyr364=) c.1152C>T (p.Tyr384=) n.1028C>T c.1074C>T (p.Tyr358=) c.1344C>T (p.Tyr448=) c.1353C>T (p.Tyr451=) c.699C>T (p.Tyr233=) c.1143C>T (p.Tyr381=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765633G>A | CA5326828 | KCNT1 | c.1210G>A (p.Val404Met) c.1051G>A (p.Val351Met) c.958G>A (p.Val320Met) c.967G>A (p.Val323Met) c.1111G>A (p.Val371Met) c.*820G>A (n.*820G>A) c.1093G>A (p.Val365Met) c.1153G>A (p.Val385Met) n.1029G>A c.1075G>A (p.Val359Met) c.1345G>A (p.Val449Met) c.1354G>A (p.Val452Met) c.700G>A (p.Val234Met) c.1144G>A (p.Val382Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765633G>C | CA375501045 | KCNT1 | c.1210G>C (p.Val404Leu) c.1051G>C (p.Val351Leu) c.958G>C (p.Val320Leu) c.967G>C (p.Val323Leu) c.1111G>C (p.Val371Leu) c.*820G>C (n.*820G>C) c.1093G>C (p.Val365Leu) c.1153G>C (p.Val385Leu) n.1029G>C c.1075G>C (p.Val359Leu) c.1345G>C (p.Val449Leu) c.1354G>C (p.Val452Leu) c.700G>C (p.Val234Leu) c.1144G>C (p.Val382Leu) | |
| 9 | g.135765633G= | CA1883866662 | KCNT1 | c.1210G= (p.Val404=) c.1051G= (p.Val351=) c.958G= (p.Val320=) c.967G= (p.Val323=) c.1111G= (p.Val371=) c.*820G= (n.*820G=) c.1093G= (p.Val365=) c.1153G= (p.Val385=) n.1029G= c.1075G= (p.Val359=) c.1345G= (p.Val449=) c.1354G= (p.Val452=) c.700G= (p.Val234=) c.1144G= (p.Val382=) | |
| 9 | g.135765633G>T | CA375501042 | KCNT1 | c.1210G>T (p.Val404Leu) c.1051G>T (p.Val351Leu) c.958G>T (p.Val320Leu) c.967G>T (p.Val323Leu) c.1111G>T (p.Val371Leu) c.*820G>T (n.*820G>T) c.1093G>T (p.Val365Leu) c.1153G>T (p.Val385Leu) n.1029G>T c.1075G>T (p.Val359Leu) c.1345G>T (p.Val449Leu) c.1354G>T (p.Val452Leu) c.700G>T (p.Val234Leu) c.1144G>T (p.Val382Leu) | gnomAD v4 |
| 9 | g.135765634T>A | CA375501050 | KCNT1 | c.1211T>A (p.Val404Glu) c.1052T>A (p.Val351Glu) c.959T>A (p.Val320Glu) c.968T>A (p.Val323Glu) c.1112T>A (p.Val371Glu) c.*821T>A (n.*821T>A) c.1094T>A (p.Val365Glu) c.1154T>A (p.Val385Glu) n.1030T>A c.1076T>A (p.Val359Glu) c.1346T>A (p.Val449Glu) c.1355T>A (p.Val452Glu) c.701T>A (p.Val234Glu) c.1145T>A (p.Val382Glu) | |
| 9 | g.135765634T>C | CA375501065 | KCNT1 | c.1211T>C (p.Val404Ala) c.1052T>C (p.Val351Ala) c.959T>C (p.Val320Ala) c.968T>C (p.Val323Ala) c.1112T>C (p.Val371Ala) c.*821T>C (n.*821T>C) c.1094T>C (p.Val365Ala) c.1154T>C (p.Val385Ala) n.1030T>C c.1076T>C (p.Val359Ala) c.1346T>C (p.Val449Ala) c.1355T>C (p.Val452Ala) c.701T>C (p.Val234Ala) c.1145T>C (p.Val382Ala) | gnomAD v4 |
| 9 | g.135765634T>G | CA375501054 | KCNT1 | c.1211T>G (p.Val404Gly) c.1052T>G (p.Val351Gly) c.959T>G (p.Val320Gly) c.968T>G (p.Val323Gly) c.1112T>G (p.Val371Gly) c.*821T>G (n.*821T>G) c.1094T>G (p.Val365Gly) c.1154T>G (p.Val385Gly) n.1030T>G c.1076T>G (p.Val359Gly) c.1346T>G (p.Val449Gly) c.1355T>G (p.Val452Gly) c.701T>G (p.Val234Gly) c.1145T>G (p.Val382Gly) | |
| 9 | g.135765635G>A | CA467698124 | KCNT1 | c.1212G>A (p.Val404=) c.1053G>A (p.Val351=) c.960G>A (p.Val320=) c.969G>A (p.Val323=) c.1113G>A (p.Val371=) c.*822G>A (n.*822G>A) c.1095G>A (p.Val365=) c.1155G>A (p.Val385=) n.1031G>A c.1077G>A (p.Val359=) c.1347G>A (p.Val449=) c.1356G>A (p.Val452=) c.702G>A (p.Val234=) c.1146G>A (p.Val382=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765635G>C | CA467698125 | KCNT1 | c.1212G>C (p.Val404=) c.1053G>C (p.Val351=) c.960G>C (p.Val320=) c.969G>C (p.Val323=) c.1113G>C (p.Val371=) c.*822G>C (n.*822G>C) c.1095G>C (p.Val365=) c.1155G>C (p.Val385=) n.1031G>C c.1077G>C (p.Val359=) c.1347G>C (p.Val449=) c.1356G>C (p.Val452=) c.702G>C (p.Val234=) c.1146G>C (p.Val382=) | |
| 9 | g.135765635G= | CA1883866663 | KCNT1 | c.1212G= (p.Val404=) c.1053G= (p.Val351=) c.960G= (p.Val320=) c.969G= (p.Val323=) c.1113G= (p.Val371=) c.*822G= (n.*822G=) c.1095G= (p.Val365=) c.1155G= (p.Val385=) n.1031G= c.1077G= (p.Val359=) c.1347G= (p.Val449=) c.1356G= (p.Val452=) c.702G= (p.Val234=) c.1146G= (p.Val382=) | |
| 9 | g.135765635G>T | CA467698126 | KCNT1 | c.1212G>T (p.Val404=) c.1053G>T (p.Val351=) c.960G>T (p.Val320=) c.969G>T (p.Val323=) c.1113G>T (p.Val371=) c.*822G>T (n.*822G>T) c.1095G>T (p.Val365=) c.1155G>T (p.Val385=) n.1031G>T c.1077G>T (p.Val359=) c.1347G>T (p.Val449=) c.1356G>T (p.Val452=) c.702G>T (p.Val234=) c.1146G>T (p.Val382=) | |
| 9 | g.135765636G>A | CA375501069 | KCNT1 | c.1213G>A (p.Val405Ile) c.1054G>A (p.Val352Ile) c.961G>A (p.Val321Ile) c.970G>A (p.Val324Ile) c.1114G>A (p.Val372Ile) c.*823G>A (n.*823G>A) c.1096G>A (p.Val366Ile) c.1156G>A (p.Val386Ile) n.1032G>A c.1078G>A (p.Val360Ile) c.1348G>A (p.Val450Ile) c.1357G>A (p.Val453Ile) c.703G>A (p.Val235Ile) c.1147G>A (p.Val383Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765636G>C | CA375501070 | KCNT1 | c.1213G>C (p.Val405Leu) c.1054G>C (p.Val352Leu) c.961G>C (p.Val321Leu) c.970G>C (p.Val324Leu) c.1114G>C (p.Val372Leu) c.*823G>C (n.*823G>C) c.1096G>C (p.Val366Leu) c.1156G>C (p.Val386Leu) n.1032G>C c.1078G>C (p.Val360Leu) c.1348G>C (p.Val450Leu) c.1357G>C (p.Val453Leu) c.703G>C (p.Val235Leu) c.1147G>C (p.Val383Leu) | |
| 9 | g.135765636G= | CA1883866664 | KCNT1 | c.1213G= (p.Val405=) c.1054G= (p.Val352=) c.961G= (p.Val321=) c.970G= (p.Val324=) c.1114G= (p.Val372=) c.*823G= (n.*823G=) c.1096G= (p.Val366=) c.1156G= (p.Val386=) n.1032G= c.1078G= (p.Val360=) c.1348G= (p.Val450=) c.1357G= (p.Val453=) c.703G= (p.Val235=) c.1147G= (p.Val383=) | |
| 9 | g.135765636G>T | CA375501073 | KCNT1 | c.1213G>T (p.Val405Phe) c.1054G>T (p.Val352Phe) c.961G>T (p.Val321Phe) c.970G>T (p.Val324Phe) c.1114G>T (p.Val372Phe) c.*823G>T (n.*823G>T) c.1096G>T (p.Val366Phe) c.1156G>T (p.Val386Phe) n.1032G>T c.1078G>T (p.Val360Phe) c.1348G>T (p.Val450Phe) c.1357G>T (p.Val453Phe) c.703G>T (p.Val235Phe) c.1147G>T (p.Val383Phe) | |
| 9 | g.135765637T>A | CA375501076 | KCNT1 | c.1214T>A (p.Val405Asp) c.1055T>A (p.Val352Asp) c.962T>A (p.Val321Asp) c.971T>A (p.Val324Asp) c.1115T>A (p.Val372Asp) c.*824T>A (n.*824T>A) c.1097T>A (p.Val366Asp) c.1157T>A (p.Val386Asp) n.1033T>A c.1079T>A (p.Val360Asp) c.1349T>A (p.Val450Asp) c.1358T>A (p.Val453Asp) c.704T>A (p.Val235Asp) c.1148T>A (p.Val383Asp) | |
| 9 | g.135765637T>C | CA375501079 | KCNT1 | c.1214T>C (p.Val405Ala) c.1055T>C (p.Val352Ala) c.962T>C (p.Val321Ala) c.971T>C (p.Val324Ala) c.1115T>C (p.Val372Ala) c.*824T>C (n.*824T>C) c.1097T>C (p.Val366Ala) c.1157T>C (p.Val386Ala) n.1033T>C c.1079T>C (p.Val360Ala) c.1349T>C (p.Val450Ala) c.1358T>C (p.Val453Ala) c.704T>C (p.Val235Ala) c.1148T>C (p.Val383Ala) | |
| 9 | g.135765637T>G | CA375501084 | KCNT1 | c.1214T>G (p.Val405Gly) c.1055T>G (p.Val352Gly) c.962T>G (p.Val321Gly) c.971T>G (p.Val324Gly) c.1115T>G (p.Val372Gly) c.*824T>G (n.*824T>G) c.1097T>G (p.Val366Gly) c.1157T>G (p.Val386Gly) n.1033T>G c.1079T>G (p.Val360Gly) c.1349T>G (p.Val450Gly) c.1358T>G (p.Val453Gly) c.704T>G (p.Val235Gly) c.1148T>G (p.Val383Gly) | |
| 9 | g.135765638C>A | CA467698127 | KCNT1 | c.1215C>A (p.Val405=) c.1056C>A (p.Val352=) c.963C>A (p.Val321=) c.972C>A (p.Val324=) c.1116C>A (p.Val372=) c.*825C>A (n.*825C>A) c.1098C>A (p.Val366=) c.1158C>A (p.Val386=) n.1034C>A c.1080C>A (p.Val360=) c.1350C>A (p.Val450=) c.1359C>A (p.Val453=) c.705C>A (p.Val235=) c.1149C>A (p.Val383=) | ClinVar gnomAD v4 |
| 9 | g.135765638C= | CA1883866665 | KCNT1 | c.1215C= (p.Val405=) c.1056C= (p.Val352=) c.963C= (p.Val321=) c.972C= (p.Val324=) c.1116C= (p.Val372=) c.*825C= (n.*825C=) c.1098C= (p.Val366=) c.1158C= (p.Val386=) n.1034C= c.1080C= (p.Val360=) c.1350C= (p.Val450=) c.1359C= (p.Val453=) c.705C= (p.Val235=) c.1149C= (p.Val383=) | |
| 9 | g.135765638C>G | CA467698128 | KCNT1 | c.1215C>G (p.Val405=) c.1056C>G (p.Val352=) c.963C>G (p.Val321=) c.972C>G (p.Val324=) c.1116C>G (p.Val372=) c.*825C>G (n.*825C>G) c.1098C>G (p.Val366=) c.1158C>G (p.Val386=) n.1034C>G c.1080C>G (p.Val360=) c.1350C>G (p.Val450=) c.1359C>G (p.Val453=) c.705C>G (p.Val235=) c.1149C>G (p.Val383=) | |
| 9 | g.135765638C>T | CA467698129 | KCNT1 | c.1215C>T (p.Val405=) c.1056C>T (p.Val352=) c.963C>T (p.Val321=) c.972C>T (p.Val324=) c.1116C>T (p.Val372=) c.*825C>T (n.*825C>T) c.1098C>T (p.Val366=) c.1158C>T (p.Val386=) n.1034C>T c.1080C>T (p.Val360=) c.1350C>T (p.Val450=) c.1359C>T (p.Val453=) c.705C>T (p.Val235=) c.1149C>T (p.Val383=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135765639A= | CA1883866666 | KCNT1 | c.1216A= (p.Ile406=) c.1057A= (p.Ile353=) c.964A= (p.Ile322=) c.973A= (p.Ile325=) c.1117A= (p.Ile373=) c.*826A= (n.*826A=) c.1099A= (p.Ile367=) c.1159A= (p.Ile387=) n.1035A= c.1081A= (p.Ile361=) c.1351A= (p.Ile451=) c.1360A= (p.Ile454=) c.706A= (p.Ile236=) c.1150A= (p.Ile384=) | |
| 9 | g.135765639A>C | CA375501086 | KCNT1 | c.1216A>C (p.Ile406Leu) c.1057A>C (p.Ile353Leu) c.964A>C (p.Ile322Leu) c.973A>C (p.Ile325Leu) c.1117A>C (p.Ile373Leu) c.*826A>C (n.*826A>C) c.1099A>C (p.Ile367Leu) c.1159A>C (p.Ile387Leu) n.1035A>C c.1081A>C (p.Ile361Leu) c.1351A>C (p.Ile451Leu) c.1360A>C (p.Ile454Leu) c.706A>C (p.Ile236Leu) c.1150A>C (p.Ile384Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135765639A>G | CA375501088 | KCNT1 | c.1216A>G (p.Ile406Val) c.1057A>G (p.Ile353Val) c.964A>G (p.Ile322Val) c.973A>G (p.Ile325Val) c.1117A>G (p.Ile373Val) c.*826A>G (n.*826A>G) c.1099A>G (p.Ile367Val) c.1159A>G (p.Ile387Val) n.1035A>G c.1081A>G (p.Ile361Val) c.1351A>G (p.Ile451Val) c.1360A>G (p.Ile454Val) c.706A>G (p.Ile236Val) c.1150A>G (p.Ile384Val) | |
| 9 | g.135765639A>T | CA375501090 | KCNT1 | c.1216A>T (p.Ile406Phe) c.1057A>T (p.Ile353Phe) c.964A>T (p.Ile322Phe) c.973A>T (p.Ile325Phe) c.1117A>T (p.Ile373Phe) c.*826A>T (n.*826A>T) c.1099A>T (p.Ile367Phe) c.1159A>T (p.Ile387Phe) n.1035A>T c.1081A>T (p.Ile361Phe) c.1351A>T (p.Ile451Phe) c.1360A>T (p.Ile454Phe) c.706A>T (p.Ile236Phe) c.1150A>T (p.Ile384Phe) | |
| 9 | g.135765640T>A | CA375501094 | KCNT1 | c.1217T>A (p.Ile406Asn) c.1058T>A (p.Ile353Asn) c.965T>A (p.Ile322Asn) c.974T>A (p.Ile325Asn) c.1118T>A (p.Ile373Asn) c.*827T>A (n.*827T>A) c.1100T>A (p.Ile367Asn) c.1160T>A (p.Ile387Asn) n.1036T>A c.1082T>A (p.Ile361Asn) c.1352T>A (p.Ile451Asn) c.1361T>A (p.Ile454Asn) c.707T>A (p.Ile236Asn) c.1151T>A (p.Ile384Asn) | |
| 9 | g.135765640T>C | CA375501096 | KCNT1 | c.1217T>C (p.Ile406Thr) c.1058T>C (p.Ile353Thr) c.965T>C (p.Ile322Thr) c.974T>C (p.Ile325Thr) c.1118T>C (p.Ile373Thr) c.*827T>C (n.*827T>C) c.1100T>C (p.Ile367Thr) c.1160T>C (p.Ile387Thr) n.1036T>C c.1082T>C (p.Ile361Thr) c.1352T>C (p.Ile451Thr) c.1361T>C (p.Ile454Thr) c.707T>C (p.Ile236Thr) c.1151T>C (p.Ile384Thr) | |
| 9 | g.135765640T>G | CA375501103 | KCNT1 | c.1217T>G (p.Ile406Ser) c.1058T>G (p.Ile353Ser) c.965T>G (p.Ile322Ser) c.974T>G (p.Ile325Ser) c.1118T>G (p.Ile373Ser) c.*827T>G (n.*827T>G) c.1100T>G (p.Ile367Ser) c.1160T>G (p.Ile387Ser) n.1036T>G c.1082T>G (p.Ile361Ser) c.1352T>G (p.Ile451Ser) c.1361T>G (p.Ile454Ser) c.707T>G (p.Ile236Ser) c.1151T>G (p.Ile384Ser) | |
| 9 | g.135765641C>A | CA467698130 | KCNT1 | c.1218C>A (p.Ile406=) c.1059C>A (p.Ile353=) c.966C>A (p.Ile322=) c.975C>A (p.Ile325=) c.1119C>A (p.Ile373=) c.*828C>A (n.*828C>A) c.1101C>A (p.Ile367=) c.1161C>A (p.Ile387=) n.1037C>A c.1083C>A (p.Ile361=) c.1353C>A (p.Ile451=) c.1362C>A (p.Ile454=) c.708C>A (p.Ile236=) c.1152C>A (p.Ile384=) | gnomAD v4 |
| 9 | g.135765641C= | CA1883866667 | KCNT1 | c.1218C= (p.Ile406=) c.1059C= (p.Ile353=) c.966C= (p.Ile322=) c.975C= (p.Ile325=) c.1119C= (p.Ile373=) c.*828C= (n.*828C=) c.1101C= (p.Ile367=) c.1161C= (p.Ile387=) n.1037C= c.1083C= (p.Ile361=) c.1353C= (p.Ile451=) c.1362C= (p.Ile454=) c.708C= (p.Ile236=) c.1152C= (p.Ile384=) | |
| 9 | g.135765641C>G | CA375501107 | KCNT1 | c.1218C>G (p.Ile406Met) c.1059C>G (p.Ile353Met) c.966C>G (p.Ile322Met) c.975C>G (p.Ile325Met) c.1119C>G (p.Ile373Met) c.*828C>G (n.*828C>G) c.1101C>G (p.Ile367Met) c.1161C>G (p.Ile387Met) n.1037C>G c.1083C>G (p.Ile361Met) c.1353C>G (p.Ile451Met) c.1362C>G (p.Ile454Met) c.708C>G (p.Ile236Met) c.1152C>G (p.Ile384Met) | |
| 9 | g.135765641C>T | CA5326829 | KCNT1 | c.1218C>T (p.Ile406=) c.1059C>T (p.Ile353=) c.966C>T (p.Ile322=) c.975C>T (p.Ile325=) c.1119C>T (p.Ile373=) c.*828C>T (n.*828C>T) c.1101C>T (p.Ile367=) c.1161C>T (p.Ile387=) n.1037C>T c.1083C>T (p.Ile361=) c.1353C>T (p.Ile451=) c.1362C>T (p.Ile454=) c.708C>T (p.Ile236=) c.1152C>T (p.Ile384=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765642C>A | CA375501110 | KCNT1 | c.1219C>A (p.Leu407Met) c.1060C>A (p.Leu354Met) c.967C>A (p.Leu323Met) c.976C>A (p.Leu326Met) c.1120C>A (p.Leu374Met) c.*829C>A (n.*829C>A) c.1102C>A (p.Leu368Met) c.1162C>A (p.Leu388Met) n.1038C>A c.1084C>A (p.Leu362Met) c.1354C>A (p.Leu452Met) c.1363C>A (p.Leu455Met) c.709C>A (p.Leu237Met) c.1153C>A (p.Leu385Met) | gnomAD v4 |
| 9 | g.135765642C>G | CA375501113 | KCNT1 | c.1219C>G (p.Leu407Val) c.1060C>G (p.Leu354Val) c.967C>G (p.Leu323Val) c.976C>G (p.Leu326Val) c.1120C>G (p.Leu374Val) c.*829C>G (n.*829C>G) c.1102C>G (p.Leu368Val) c.1162C>G (p.Leu388Val) n.1038C>G c.1084C>G (p.Leu362Val) c.1354C>G (p.Leu452Val) c.1363C>G (p.Leu455Val) c.709C>G (p.Leu237Val) c.1153C>G (p.Leu385Val) | |
| 9 | g.135765642C>T | CA467698131 | KCNT1 | c.1219C>T (p.Leu407=) c.1060C>T (p.Leu354=) c.967C>T (p.Leu323=) c.976C>T (p.Leu326=) c.1120C>T (p.Leu374=) c.*829C>T (n.*829C>T) c.1102C>T (p.Leu368=) c.1162C>T (p.Leu388=) n.1038C>T c.1084C>T (p.Leu362=) c.1354C>T (p.Leu452=) c.1363C>T (p.Leu455=) c.709C>T (p.Leu237=) c.1153C>T (p.Leu385=) | |
| 9 | g.135765643T>A | CA375501115 | KCNT1 | c.1220T>A (p.Leu407Gln) c.1061T>A (p.Leu354Gln) c.968T>A (p.Leu323Gln) c.977T>A (p.Leu326Gln) c.1121T>A (p.Leu374Gln) c.*830T>A (n.*830T>A) c.1103T>A (p.Leu368Gln) c.1163T>A (p.Leu388Gln) n.1039T>A c.1085T>A (p.Leu362Gln) c.1355T>A (p.Leu452Gln) c.1364T>A (p.Leu455Gln) c.710T>A (p.Leu237Gln) c.1154T>A (p.Leu385Gln) | |
| 9 | g.135765643T>C | CA375501118 | KCNT1 | c.1220T>C (p.Leu407Pro) c.1061T>C (p.Leu354Pro) c.968T>C (p.Leu323Pro) c.977T>C (p.Leu326Pro) c.1121T>C (p.Leu374Pro) c.*830T>C (n.*830T>C) c.1103T>C (p.Leu368Pro) c.1163T>C (p.Leu388Pro) n.1039T>C c.1085T>C (p.Leu362Pro) c.1355T>C (p.Leu452Pro) c.1364T>C (p.Leu455Pro) c.710T>C (p.Leu237Pro) c.1154T>C (p.Leu385Pro) | |
| 9 | g.135765643T>G | CA375501120 | KCNT1 | c.1220T>G (p.Leu407Arg) c.1061T>G (p.Leu354Arg) c.968T>G (p.Leu323Arg) c.977T>G (p.Leu326Arg) c.1121T>G (p.Leu374Arg) c.*830T>G (n.*830T>G) c.1103T>G (p.Leu368Arg) c.1163T>G (p.Leu388Arg) n.1039T>G c.1085T>G (p.Leu362Arg) c.1355T>G (p.Leu452Arg) c.1364T>G (p.Leu455Arg) c.710T>G (p.Leu237Arg) c.1154T>G (p.Leu385Arg) | |
| 9 | g.135765644G>A | CA5326830 | KCNT1 | c.1221G>A (p.Leu407=) c.1062G>A (p.Leu354=) c.969G>A (p.Leu323=) c.978G>A (p.Leu326=) c.1122G>A (p.Leu374=) c.*831G>A (n.*831G>A) c.1104G>A (p.Leu368=) c.1164G>A (p.Leu388=) n.1040G>A c.1086G>A (p.Leu362=) c.1356G>A (p.Leu452=) c.1365G>A (p.Leu455=) c.711G>A (p.Leu237=) c.1155G>A (p.Leu385=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765644G>C | CA467698133 | KCNT1 | c.1221G>C (p.Leu407=) c.1062G>C (p.Leu354=) c.969G>C (p.Leu323=) c.978G>C (p.Leu326=) c.1122G>C (p.Leu374=) c.*831G>C (n.*831G>C) c.1104G>C (p.Leu368=) c.1164G>C (p.Leu388=) n.1040G>C c.1086G>C (p.Leu362=) c.1356G>C (p.Leu452=) c.1365G>C (p.Leu455=) c.711G>C (p.Leu237=) c.1155G>C (p.Leu385=) | |
| 9 | g.135765644G= | CA1883866668 | KCNT1 | c.1221G= (p.Leu407=) c.1062G= (p.Leu354=) c.969G= (p.Leu323=) c.978G= (p.Leu326=) c.1122G= (p.Leu374=) c.*831G= (n.*831G=) c.1104G= (p.Leu368=) c.1164G= (p.Leu388=) n.1040G= c.1086G= (p.Leu362=) c.1356G= (p.Leu452=) c.1365G= (p.Leu455=) c.711G= (p.Leu237=) c.1155G= (p.Leu385=) | |
| 9 | g.135765644G>T | CA467698132 | KCNT1 | c.1221G>T (p.Leu407=) c.1062G>T (p.Leu354=) c.969G>T (p.Leu323=) c.978G>T (p.Leu326=) c.1122G>T (p.Leu374=) c.*831G>T (n.*831G>T) c.1104G>T (p.Leu368=) c.1164G>T (p.Leu388=) n.1040G>T c.1086G>T (p.Leu362=) c.1356G>T (p.Leu452=) c.1365G>T (p.Leu455=) c.711G>T (p.Leu237=) c.1155G>T (p.Leu385=) | |
| 9 | g.135765645T>A | CA375501132 | KCNT1 | c.1222T>A (p.Cys408Ser) c.1063T>A (p.Cys355Ser) c.970T>A (p.Cys324Ser) c.979T>A (p.Cys327Ser) c.1123T>A (p.Cys375Ser) c.*832T>A (n.*832T>A) c.1105T>A (p.Cys369Ser) c.1165T>A (p.Cys389Ser) n.1041T>A c.1087T>A (p.Cys363Ser) c.1357T>A (p.Cys453Ser) c.1366T>A (p.Cys456Ser) c.712T>A (p.Cys238Ser) c.1156T>A (p.Cys386Ser) | |
| 9 | g.135765645T>C | CA375501127 | KCNT1 | c.1222T>C (p.Cys408Arg) c.1063T>C (p.Cys355Arg) c.970T>C (p.Cys324Arg) c.979T>C (p.Cys327Arg) c.1123T>C (p.Cys375Arg) c.*832T>C (n.*832T>C) c.1105T>C (p.Cys369Arg) c.1165T>C (p.Cys389Arg) n.1041T>C c.1087T>C (p.Cys363Arg) c.1357T>C (p.Cys453Arg) c.1366T>C (p.Cys456Arg) c.712T>C (p.Cys238Arg) c.1156T>C (p.Cys386Arg) | |
| 9 | g.135765645T>G | CA375501129 | KCNT1 | c.1222T>G (p.Cys408Gly) c.1063T>G (p.Cys355Gly) c.970T>G (p.Cys324Gly) c.979T>G (p.Cys327Gly) c.1123T>G (p.Cys375Gly) c.*832T>G (n.*832T>G) c.1105T>G (p.Cys369Gly) c.1165T>G (p.Cys389Gly) n.1041T>G c.1087T>G (p.Cys363Gly) c.1357T>G (p.Cys453Gly) c.1366T>G (p.Cys456Gly) c.712T>G (p.Cys238Gly) c.1156T>G (p.Cys386Gly) |