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.135765732C>A | CA375501710 | KCNT1 | c.1309C>A (p.Leu437Ile) n.36C>A n.48C>A c.1150C>A (p.Leu384Ile) c.1057C>A (p.Leu353Ile) c.1066C>A (p.Leu356Ile) c.1210C>A (p.Leu404Ile) c.*919C>A (n.*919C>A) c.1192C>A (p.Leu398Ile) c.1252C>A (p.Leu418Ile) n.1128C>A c.1174C>A (p.Leu392Ile) c.1444C>A (p.Leu482Ile) c.1453C>A (p.Leu485Ile) c.799C>A (p.Leu267Ile) c.1243C>A (p.Leu415Ile) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135765732C= | CA1883866697 | KCNT1 | c.1309C= (p.Leu437=) n.36C= n.48C= c.1150C= (p.Leu384=) c.1057C= (p.Leu353=) c.1066C= (p.Leu356=) c.1210C= (p.Leu404=) c.*919C= (n.*919C=) c.1192C= (p.Leu398=) c.1252C= (p.Leu418=) n.1128C= c.1174C= (p.Leu392=) c.1444C= (p.Leu482=) c.1453C= (p.Leu485=) c.799C= (p.Leu267=) c.1243C= (p.Leu415=) | |
| 9 | g.135765732C>G | CA375501713 | KCNT1 | c.1309C>G (p.Leu437Val) n.36C>G n.48C>G c.1150C>G (p.Leu384Val) c.1057C>G (p.Leu353Val) c.1066C>G (p.Leu356Val) c.1210C>G (p.Leu404Val) c.*919C>G (n.*919C>G) c.1192C>G (p.Leu398Val) c.1252C>G (p.Leu418Val) n.1128C>G c.1174C>G (p.Leu392Val) c.1444C>G (p.Leu482Val) c.1453C>G (p.Leu485Val) c.799C>G (p.Leu267Val) c.1243C>G (p.Leu415Val) | |
| 9 | g.135765732C>T | CA16042762 | KCNT1 | c.1309C>T (p.Leu437Phe) n.36C>T n.48C>T c.1150C>T (p.Leu384Phe) c.1057C>T (p.Leu353Phe) c.1066C>T (p.Leu356Phe) c.1210C>T (p.Leu404Phe) c.*919C>T (n.*919C>T) c.1192C>T (p.Leu398Phe) c.1252C>T (p.Leu418Phe) n.1128C>T c.1174C>T (p.Leu392Phe) c.1444C>T (p.Leu482Phe) c.1453C>T (p.Leu485Phe) c.799C>T (p.Leu267Phe) c.1243C>T (p.Leu415Phe) | ClinVar dbSNP |
| 9 | g.135765733T>A | CA375501718 | KCNT1 | c.1310T>A (p.Leu437His) n.37T>A n.49T>A c.1151T>A (p.Leu384His) c.1058T>A (p.Leu353His) c.1067T>A (p.Leu356His) c.1211T>A (p.Leu404His) c.*920T>A (n.*920T>A) c.1193T>A (p.Leu398His) c.1253T>A (p.Leu418His) n.1129T>A c.1175T>A (p.Leu392His) c.1445T>A (p.Leu482His) c.1454T>A (p.Leu485His) c.800T>A (p.Leu267His) c.1244T>A (p.Leu415His) | |
| 9 | g.135765733T>C | CA201465715 | KCNT1 | c.1310T>C (p.Leu437Pro) n.37T>C n.49T>C c.1151T>C (p.Leu384Pro) c.1058T>C (p.Leu353Pro) c.1067T>C (p.Leu356Pro) c.1211T>C (p.Leu404Pro) c.*920T>C (n.*920T>C) c.1193T>C (p.Leu398Pro) c.1253T>C (p.Leu418Pro) n.1129T>C c.1175T>C (p.Leu392Pro) c.1445T>C (p.Leu482Pro) c.1454T>C (p.Leu485Pro) c.800T>C (p.Leu267Pro) c.1244T>C (p.Leu415Pro) | dbSNP |
| 9 | g.135765733T>G | CA375501722 | KCNT1 | c.1310T>G (p.Leu437Arg) n.37T>G n.49T>G c.1151T>G (p.Leu384Arg) c.1058T>G (p.Leu353Arg) c.1067T>G (p.Leu356Arg) c.1211T>G (p.Leu404Arg) c.*920T>G (n.*920T>G) c.1193T>G (p.Leu398Arg) c.1253T>G (p.Leu418Arg) n.1129T>G c.1175T>G (p.Leu392Arg) c.1445T>G (p.Leu482Arg) c.1454T>G (p.Leu485Arg) c.800T>G (p.Leu267Arg) c.1244T>G (p.Leu415Arg) | |
| 9 | g.135765733T= | CA1883866698 | KCNT1 | c.1310T= (p.Leu437=) n.37T= n.49T= c.1151T= (p.Leu384=) c.1058T= (p.Leu353=) c.1067T= (p.Leu356=) c.1211T= (p.Leu404=) c.*920T= (n.*920T=) c.1193T= (p.Leu398=) c.1253T= (p.Leu418=) n.1129T= c.1175T= (p.Leu392=) c.1445T= (p.Leu482=) c.1454T= (p.Leu485=) c.800T= (p.Leu267=) c.1244T= (p.Leu415=) | |
| 9 | g.135765734C>A | CA467698191 | KCNT1 | c.1311C>A (p.Leu437=) c.1C>A n.38C>A n.50C>A c.1152C>A (p.Leu384=) c.1059C>A (p.Leu353=) c.1068C>A (p.Leu356=) c.1212C>A (p.Leu404=) c.*921C>A (n.*921C>A) c.1194C>A (p.Leu398=) c.1254C>A (p.Leu418=) n.1130C>A c.1176C>A (p.Leu392=) c.1446C>A (p.Leu482=) c.1455C>A (p.Leu485=) c.801C>A (p.Leu267=) c.1245C>A (p.Leu415=) | gnomAD v4 |
| 9 | g.135765734C= | CA1883866699 | KCNT1 | c.1311C= (p.Leu437=) c.1C= n.38C= n.50C= c.1152C= (p.Leu384=) c.1059C= (p.Leu353=) c.1068C= (p.Leu356=) c.1212C= (p.Leu404=) c.*921C= (n.*921C=) c.1194C= (p.Leu398=) c.1254C= (p.Leu418=) n.1130C= c.1176C= (p.Leu392=) c.1446C= (p.Leu482=) c.1455C= (p.Leu485=) c.801C= (p.Leu267=) c.1245C= (p.Leu415=) | |
| 9 | g.135765734C>G | CA467698192 | KCNT1 | c.1311C>G (p.Leu437=) c.1C>G n.38C>G n.50C>G c.1152C>G (p.Leu384=) c.1059C>G (p.Leu353=) c.1068C>G (p.Leu356=) c.1212C>G (p.Leu404=) c.*921C>G (n.*921C>G) c.1194C>G (p.Leu398=) c.1254C>G (p.Leu418=) n.1130C>G c.1176C>G (p.Leu392=) c.1446C>G (p.Leu482=) c.1455C>G (p.Leu485=) c.801C>G (p.Leu267=) c.1245C>G (p.Leu415=) | ClinVar dbSNP |
| 9 | g.135765734C>T | CA5326841 | KCNT1 | c.1311C>T (p.Leu437=) c.1C>T n.38C>T n.50C>T c.1152C>T (p.Leu384=) c.1059C>T (p.Leu353=) c.1068C>T (p.Leu356=) c.1212C>T (p.Leu404=) c.*921C>T (n.*921C>T) c.1194C>T (p.Leu398=) c.1254C>T (p.Leu418=) n.1130C>T c.1176C>T (p.Leu392=) c.1446C>T (p.Leu482=) c.1455C>T (p.Leu485=) c.801C>T (p.Leu267=) c.1245C>T (p.Leu415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765735A>C | CA375501728 | KCNT1 | c.1312A>C (p.Lys438Gln) c.2A>C n.39A>C n.51A>C c.1153A>C (p.Lys385Gln) c.1060A>C (p.Lys354Gln) c.1069A>C (p.Lys357Gln) c.1213A>C (p.Lys405Gln) c.*922A>C (n.*922A>C) c.1195A>C (p.Lys399Gln) c.1255A>C (p.Lys419Gln) n.1131A>C c.1177A>C (p.Lys393Gln) c.1447A>C (p.Lys483Gln) c.1456A>C (p.Lys486Gln) c.802A>C (p.Lys268Gln) c.1246A>C (p.Lys416Gln) | |
| 9 | g.135765735A>G | CA375501729 | KCNT1 | c.1312A>G (p.Lys438Glu) c.2A>G n.39A>G n.51A>G c.1153A>G (p.Lys385Glu) c.1060A>G (p.Lys354Glu) c.1069A>G (p.Lys357Glu) c.1213A>G (p.Lys405Glu) c.*922A>G (n.*922A>G) c.1195A>G (p.Lys399Glu) c.1255A>G (p.Lys419Glu) n.1131A>G c.1177A>G (p.Lys393Glu) c.1447A>G (p.Lys483Glu) c.1456A>G (p.Lys486Glu) c.802A>G (p.Lys268Glu) c.1246A>G (p.Lys416Glu) | |
| 9 | g.135765735A>T | CA375501732 | KCNT1 | c.1312A>T (p.Lys438Ter) c.2A>T n.39A>T n.51A>T c.1153A>T (p.Lys385Ter) c.1060A>T (p.Lys354Ter) c.1069A>T (p.Lys357Ter) c.1213A>T (p.Lys405Ter) c.*922A>T (n.*922A>T) c.1195A>T (p.Lys399Ter) c.1255A>T (p.Lys419Ter) n.1131A>T c.1177A>T (p.Lys393Ter) c.1447A>T (p.Lys483Ter) c.1456A>T (p.Lys486Ter) c.802A>T (p.Lys268Ter) c.1246A>T (p.Lys416Ter) | |
| 9 | g.135765735_135765736insTA | CA591144186 | KCNT1 | c.1312_1313insTA (p.Lys438IlefsTer?) c.2_3insTA n.39_40insTA n.51_52insTA c.1153_1154insTA (p.Lys385IlefsTer?) c.1060_1061insTA (p.Lys354IlefsTer?) c.1069_1070insTA (p.Lys357IlefsTer?) c.1213_1214insTA (p.Lys405IlefsTer?) c.*922_*923insTA (n.*922_*923insTA) c.1195_1196insTA (p.Lys399IlefsTer?) c.1255_1256insTA (p.Lys419IlefsTer?) n.1131_1132insTA c.1177_1178insTA (p.Lys393IlefsTer?) c.1447_1448insTA (p.Lys483IlefsTer?) c.1456_1457insTA (p.Lys486IlefsTer?) c.802_803insTA (p.Lys268IlefsTer?) c.1246_1247insTA (p.Lys416IlefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135765737dup | CA591144187 | KCNT1 | c.1314dup (p.Asp439ArgfsTer?) c.4dup n.41dup n.53dup c.1155dup (p.Asp386ArgfsTer?) c.1062dup (p.Asp355ArgfsTer?) c.1071dup (p.Asp358ArgfsTer?) c.1215dup (p.Asp406ArgfsTer?) c.*924dup (n.*924dup) c.1197dup (p.Asp400ArgfsTer?) c.1257dup (p.Asp420ArgfsTer?) n.1133dup c.1179dup (p.Asp394ArgfsTer?) c.1449dup (p.Asp484ArgfsTer?) c.1458dup (p.Asp487ArgfsTer?) c.804dup (p.Asp269ArgfsTer?) c.1248dup (p.Asp417ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.135765736A= | CA1883866700 | KCNT1 | c.1313A= (p.Lys438=) c.3A= n.40A= n.52A= c.1154A= (p.Lys385=) c.1061A= (p.Lys354=) c.1070A= (p.Lys357=) c.1214A= (p.Lys405=) c.*923A= (n.*923A=) c.1196A= (p.Lys399=) c.1256A= (p.Lys419=) n.1132A= c.1178A= (p.Lys393=) c.1448A= (p.Lys483=) c.1457A= (p.Lys486=) c.803A= (p.Lys268=) c.1247A= (p.Lys416=) | |
| 9 | g.135765736A>C | CA375501740 | KCNT1 | c.1313A>C (p.Lys438Thr) c.3A>C n.40A>C n.52A>C c.1154A>C (p.Lys385Thr) c.1061A>C (p.Lys354Thr) c.1070A>C (p.Lys357Thr) c.1214A>C (p.Lys405Thr) c.*923A>C (n.*923A>C) c.1196A>C (p.Lys399Thr) c.1256A>C (p.Lys419Thr) n.1132A>C c.1178A>C (p.Lys393Thr) c.1448A>C (p.Lys483Thr) c.1457A>C (p.Lys486Thr) c.803A>C (p.Lys268Thr) c.1247A>C (p.Lys416Thr) | |
| 9 | g.135765736A>G | CA201465723 | KCNT1 | c.1313A>G (p.Lys438Arg) c.3A>G n.40A>G n.52A>G c.1154A>G (p.Lys385Arg) c.1061A>G (p.Lys354Arg) c.1070A>G (p.Lys357Arg) c.1214A>G (p.Lys405Arg) c.*923A>G (n.*923A>G) c.1196A>G (p.Lys399Arg) c.1256A>G (p.Lys419Arg) n.1132A>G c.1178A>G (p.Lys393Arg) c.1448A>G (p.Lys483Arg) c.1457A>G (p.Lys486Arg) c.803A>G (p.Lys268Arg) c.1247A>G (p.Lys416Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135765736A>T | CA375501735 | KCNT1 | c.1313A>T (p.Lys438Ile) c.3A>T n.40A>T n.52A>T c.1154A>T (p.Lys385Ile) c.1061A>T (p.Lys354Ile) c.1070A>T (p.Lys357Ile) c.1214A>T (p.Lys405Ile) c.*923A>T (n.*923A>T) c.1196A>T (p.Lys399Ile) c.1256A>T (p.Lys419Ile) n.1132A>T c.1178A>T (p.Lys393Ile) c.1448A>T (p.Lys483Ile) c.1457A>T (p.Lys486Ile) c.803A>T (p.Lys268Ile) c.1247A>T (p.Lys416Ile) | |
| 9 | g.135765737A>C | CA375501743 | KCNT1 | c.1314A>C (p.Lys438Asn) c.4A>C n.41A>C n.53A>C c.1155A>C (p.Lys385Asn) c.1062A>C (p.Lys354Asn) c.1071A>C (p.Lys357Asn) c.1215A>C (p.Lys405Asn) c.*924A>C (n.*924A>C) c.1197A>C (p.Lys399Asn) c.1257A>C (p.Lys419Asn) n.1133A>C c.1179A>C (p.Lys393Asn) c.1449A>C (p.Lys483Asn) c.1458A>C (p.Lys486Asn) c.804A>C (p.Lys268Asn) c.1248A>C (p.Lys416Asn) | |
| 9 | g.135765737A>G | CA467698193 | KCNT1 | c.1314A>G (p.Lys438=) c.4A>G n.41A>G n.53A>G c.1155A>G (p.Lys385=) c.1062A>G (p.Lys354=) c.1071A>G (p.Lys357=) c.1215A>G (p.Lys405=) c.*924A>G (n.*924A>G) c.1197A>G (p.Lys399=) c.1257A>G (p.Lys419=) n.1133A>G c.1179A>G (p.Lys393=) c.1449A>G (p.Lys483=) c.1458A>G (p.Lys486=) c.804A>G (p.Lys268=) c.1248A>G (p.Lys416=) | |
| 9 | g.135765737A>T | CA375501746 | KCNT1 | c.1314A>T (p.Lys438Asn) c.4A>T n.41A>T n.53A>T c.1155A>T (p.Lys385Asn) c.1062A>T (p.Lys354Asn) c.1071A>T (p.Lys357Asn) c.1215A>T (p.Lys405Asn) c.*924A>T (n.*924A>T) c.1197A>T (p.Lys399Asn) c.1257A>T (p.Lys419Asn) n.1133A>T c.1179A>T (p.Lys393Asn) c.1449A>T (p.Lys483Asn) c.1458A>T (p.Lys486Asn) c.804A>T (p.Lys268Asn) c.1248A>T (p.Lys416Asn) | |
| 9 | g.135765738G>A | CA375501754 | KCNT1 | c.1315G>A (p.Asp439Asn) c.5G>A n.42G>A n.54G>A c.1156G>A (p.Asp386Asn) c.1063G>A (p.Asp355Asn) c.1072G>A (p.Asp358Asn) c.1216G>A (p.Asp406Asn) c.*925G>A (n.*925G>A) c.1198G>A (p.Asp400Asn) c.1258G>A (p.Asp420Asn) n.1134G>A c.1180G>A (p.Asp394Asn) c.1450G>A (p.Asp484Asn) c.1459G>A (p.Asp487Asn) c.805G>A (p.Asp269Asn) c.1249G>A (p.Asp417Asn) | |
| 9 | g.135765738G>C | CA375501756 | KCNT1 | c.1315G>C (p.Asp439His) c.5G>C n.42G>C n.54G>C c.1156G>C (p.Asp386His) c.1063G>C (p.Asp355His) c.1072G>C (p.Asp358His) c.1216G>C (p.Asp406His) c.*925G>C (n.*925G>C) c.1198G>C (p.Asp400His) c.1258G>C (p.Asp420His) n.1134G>C c.1180G>C (p.Asp394His) c.1450G>C (p.Asp484His) c.1459G>C (p.Asp487His) c.805G>C (p.Asp269His) c.1249G>C (p.Asp417His) | |
| 9 | g.135765738G>T | CA375501759 | KCNT1 | c.1315G>T (p.Asp439Tyr) c.5G>T n.42G>T n.54G>T c.1156G>T (p.Asp386Tyr) c.1063G>T (p.Asp355Tyr) c.1072G>T (p.Asp358Tyr) c.1216G>T (p.Asp406Tyr) c.*925G>T (n.*925G>T) c.1198G>T (p.Asp400Tyr) c.1258G>T (p.Asp420Tyr) n.1134G>T c.1180G>T (p.Asp394Tyr) c.1450G>T (p.Asp484Tyr) c.1459G>T (p.Asp487Tyr) c.805G>T (p.Asp269Tyr) c.1249G>T (p.Asp417Tyr) | |
| 9 | g.135765739A>C | CA375501762 | KCNT1 | c.1316A>C (p.Asp439Ala) c.6A>C n.43A>C n.55A>C c.1157A>C (p.Asp386Ala) c.1064A>C (p.Asp355Ala) c.1073A>C (p.Asp358Ala) c.1217A>C (p.Asp406Ala) c.*926A>C (n.*926A>C) c.1199A>C (p.Asp400Ala) c.1259A>C (p.Asp420Ala) n.1135A>C c.1181A>C (p.Asp394Ala) c.1451A>C (p.Asp484Ala) c.1460A>C (p.Asp487Ala) c.806A>C (p.Asp269Ala) c.1250A>C (p.Asp417Ala) | gnomAD v4 |
| 9 | g.135765739A>G | CA375501765 | KCNT1 | c.1316A>G (p.Asp439Gly) c.6A>G n.43A>G n.55A>G c.1157A>G (p.Asp386Gly) c.1064A>G (p.Asp355Gly) c.1073A>G (p.Asp358Gly) c.1217A>G (p.Asp406Gly) c.*926A>G (n.*926A>G) c.1199A>G (p.Asp400Gly) c.1259A>G (p.Asp420Gly) n.1135A>G c.1181A>G (p.Asp394Gly) c.1451A>G (p.Asp484Gly) c.1460A>G (p.Asp487Gly) c.806A>G (p.Asp269Gly) c.1250A>G (p.Asp417Gly) | |
| 9 | g.135765739A>T | CA375501767 | KCNT1 | c.1316A>T (p.Asp439Val) c.6A>T n.43A>T n.55A>T c.1157A>T (p.Asp386Val) c.1064A>T (p.Asp355Val) c.1073A>T (p.Asp358Val) c.1217A>T (p.Asp406Val) c.*926A>T (n.*926A>T) c.1199A>T (p.Asp400Val) c.1259A>T (p.Asp420Val) n.1135A>T c.1181A>T (p.Asp394Val) c.1451A>T (p.Asp484Val) c.1460A>T (p.Asp487Val) c.806A>T (p.Asp269Val) c.1250A>T (p.Asp417Val) | |
| 9 | g.135765740C>A | CA375501771 | KCNT1 | c.1317C>A (p.Asp439Glu) c.7C>A n.44C>A n.56C>A c.1158C>A (p.Asp386Glu) c.1065C>A (p.Asp355Glu) c.1074C>A (p.Asp358Glu) c.1218C>A (p.Asp406Glu) c.*927C>A (n.*927C>A) c.1200C>A (p.Asp400Glu) c.1260C>A (p.Asp420Glu) n.1136C>A c.1182C>A (p.Asp394Glu) c.1452C>A (p.Asp484Glu) c.1461C>A (p.Asp487Glu) c.807C>A (p.Asp269Glu) c.1251C>A (p.Asp417Glu) | gnomAD v4 |
| 9 | g.135765740C>G | CA375501774 | KCNT1 | c.1317C>G (p.Asp439Glu) c.7C>G n.44C>G n.56C>G c.1158C>G (p.Asp386Glu) c.1065C>G (p.Asp355Glu) c.1074C>G (p.Asp358Glu) c.1218C>G (p.Asp406Glu) c.*927C>G (n.*927C>G) c.1200C>G (p.Asp400Glu) c.1260C>G (p.Asp420Glu) n.1136C>G c.1182C>G (p.Asp394Glu) c.1452C>G (p.Asp484Glu) c.1461C>G (p.Asp487Glu) c.807C>G (p.Asp269Glu) c.1251C>G (p.Asp417Glu) | gnomAD v4 |
| 9 | g.135765740C>T | CA467698194 | KCNT1 | c.1317C>T (p.Asp439=) c.7C>T n.44C>T n.56C>T c.1158C>T (p.Asp386=) c.1065C>T (p.Asp355=) c.1074C>T (p.Asp358=) c.1218C>T (p.Asp406=) c.*927C>T (n.*927C>T) c.1200C>T (p.Asp400=) c.1260C>T (p.Asp420=) n.1136C>T c.1182C>T (p.Asp394=) c.1452C>T (p.Asp484=) c.1461C>T (p.Asp487=) c.807C>T (p.Asp269=) c.1251C>T (p.Asp417=) | ClinVar dbSNP |
| 9 | g.135765741C>A | CA375501778 | KCNT1 | c.1318C>A (p.Gln440Lys) c.8C>A n.45C>A n.57C>A c.1159C>A (p.Gln387Lys) c.1066C>A (p.Gln356Lys) c.1075C>A (p.Gln359Lys) c.1219C>A (p.Gln407Lys) c.*928C>A (n.*928C>A) c.1201C>A (p.Gln401Lys) c.1261C>A (p.Gln421Lys) n.1137C>A c.1183C>A (p.Gln395Lys) c.1453C>A (p.Gln485Lys) c.1462C>A (p.Gln488Lys) c.808C>A (p.Gln270Lys) c.1252C>A (p.Gln418Lys) | |
| 9 | g.135765741C>G | CA375501781 | KCNT1 | c.1318C>G (p.Gln440Glu) c.8C>G n.45C>G n.57C>G c.1159C>G (p.Gln387Glu) c.1066C>G (p.Gln356Glu) c.1075C>G (p.Gln359Glu) c.1219C>G (p.Gln407Glu) c.*928C>G (n.*928C>G) c.1201C>G (p.Gln401Glu) c.1261C>G (p.Gln421Glu) n.1137C>G c.1183C>G (p.Gln395Glu) c.1453C>G (p.Gln485Glu) c.1462C>G (p.Gln488Glu) c.808C>G (p.Gln270Glu) c.1252C>G (p.Gln418Glu) | |
| 9 | g.135765741C>T | CA375501783 | KCNT1 | c.1318C>T (p.Gln440Ter) c.8C>T n.45C>T n.57C>T c.1159C>T (p.Gln387Ter) c.1066C>T (p.Gln356Ter) c.1075C>T (p.Gln359Ter) c.1219C>T (p.Gln407Ter) c.*928C>T (n.*928C>T) c.1201C>T (p.Gln401Ter) c.1261C>T (p.Gln421Ter) n.1137C>T c.1183C>T (p.Gln395Ter) c.1453C>T (p.Gln485Ter) c.1462C>T (p.Gln488Ter) c.808C>T (p.Gln270Ter) c.1252C>T (p.Gln418Ter) | gnomAD v4 |
| 9 | g.135765742A>C | CA375501792 | KCNT1 | c.1319A>C (p.Gln440Pro) c.9A>C n.46A>C n.58A>C c.1160A>C (p.Gln387Pro) c.1067A>C (p.Gln356Pro) c.1076A>C (p.Gln359Pro) c.1220A>C (p.Gln407Pro) c.*929A>C (n.*929A>C) c.1202A>C (p.Gln401Pro) c.1262A>C (p.Gln421Pro) n.1138A>C c.1184A>C (p.Gln395Pro) c.1454A>C (p.Gln485Pro) c.1463A>C (p.Gln488Pro) c.809A>C (p.Gln270Pro) c.1253A>C (p.Gln418Pro) | |
| 9 | g.135765742A>G | CA375501788 | KCNT1 | c.1319A>G (p.Gln440Arg) c.9A>G n.46A>G n.58A>G c.1160A>G (p.Gln387Arg) c.1067A>G (p.Gln356Arg) c.1076A>G (p.Gln359Arg) c.1220A>G (p.Gln407Arg) c.*929A>G (n.*929A>G) c.1202A>G (p.Gln401Arg) c.1262A>G (p.Gln421Arg) n.1138A>G c.1184A>G (p.Gln395Arg) c.1454A>G (p.Gln485Arg) c.1463A>G (p.Gln488Arg) c.809A>G (p.Gln270Arg) c.1253A>G (p.Gln418Arg) | gnomAD v4 |
| 9 | g.135765742A>T | CA375501786 | KCNT1 | c.1319A>T (p.Gln440Leu) c.9A>T n.46A>T n.58A>T c.1160A>T (p.Gln387Leu) c.1067A>T (p.Gln356Leu) c.1076A>T (p.Gln359Leu) c.1220A>T (p.Gln407Leu) c.*929A>T (n.*929A>T) c.1202A>T (p.Gln401Leu) c.1262A>T (p.Gln421Leu) n.1138A>T c.1184A>T (p.Gln395Leu) c.1454A>T (p.Gln485Leu) c.1463A>T (p.Gln488Leu) c.809A>T (p.Gln270Leu) c.1253A>T (p.Gln418Leu) | |
| 9 | g.135765743G>A | CA467698195 | KCNT1 | c.1320G>A (p.Gln440=) c.10G>A n.47G>A n.59G>A c.1161G>A (p.Gln387=) c.1068G>A (p.Gln356=) c.1077G>A (p.Gln359=) c.1221G>A (p.Gln407=) c.*930G>A (n.*930G>A) c.1203G>A (p.Gln401=) c.1263G>A (p.Gln421=) n.1139G>A c.1185G>A (p.Gln395=) c.1455G>A (p.Gln485=) c.1464G>A (p.Gln488=) c.810G>A (p.Gln270=) c.1254G>A (p.Gln418=) | COSMIC COSMIC |
| 9 | g.135765743G>C | CA375501795 | KCNT1 | c.1320G>C (p.Gln440His) c.10G>C n.47G>C n.59G>C c.1161G>C (p.Gln387His) c.1068G>C (p.Gln356His) c.1077G>C (p.Gln359His) c.1221G>C (p.Gln407His) c.*930G>C (n.*930G>C) c.1203G>C (p.Gln401His) c.1263G>C (p.Gln421His) n.1139G>C c.1185G>C (p.Gln395His) c.1455G>C (p.Gln485His) c.1464G>C (p.Gln488His) c.810G>C (p.Gln270His) c.1254G>C (p.Gln418His) | |
| 9 | g.135765743G>T | CA375501798 | KCNT1 | c.1320G>T (p.Gln440His) c.10G>T n.47G>T n.59G>T c.1161G>T (p.Gln387His) c.1068G>T (p.Gln356His) c.1077G>T (p.Gln359His) c.1221G>T (p.Gln407His) c.*930G>T (n.*930G>T) c.1203G>T (p.Gln401His) c.1263G>T (p.Gln421His) n.1139G>T c.1185G>T (p.Gln395His) c.1455G>T (p.Gln485His) c.1464G>T (p.Gln488His) c.810G>T (p.Gln270His) c.1254G>T (p.Gln418His) | gnomAD v4 |
| 9 | g.135765744G>A | CA375501801 | KCNT1 | c.1321G>A (p.Asp441Asn) c.11G>A n.48G>A n.60G>A c.1162G>A (p.Asp388Asn) c.1069G>A (p.Asp357Asn) c.1078G>A (p.Asp360Asn) c.1222G>A (p.Asp408Asn) c.*931G>A (n.*931G>A) c.1204G>A (p.Asp402Asn) c.1264G>A (p.Asp422Asn) n.1140G>A c.1186G>A (p.Asp396Asn) c.1456G>A (p.Asp486Asn) c.1465G>A (p.Asp489Asn) c.811G>A (p.Asp271Asn) c.1255G>A (p.Asp419Asn) | |
| 9 | g.135765744G>C | CA375501807 | KCNT1 | c.1321G>C (p.Asp441His) c.11G>C n.48G>C n.60G>C c.1162G>C (p.Asp388His) c.1069G>C (p.Asp357His) c.1078G>C (p.Asp360His) c.1222G>C (p.Asp408His) c.*931G>C (n.*931G>C) c.1204G>C (p.Asp402His) c.1264G>C (p.Asp422His) n.1140G>C c.1186G>C (p.Asp396His) c.1456G>C (p.Asp486His) c.1465G>C (p.Asp489His) c.811G>C (p.Asp271His) c.1255G>C (p.Asp419His) | gnomAD v4 |
| 9 | g.135765744G>T | CA375501804 | KCNT1 | c.1321G>T (p.Asp441Tyr) c.11G>T n.48G>T n.60G>T c.1162G>T (p.Asp388Tyr) c.1069G>T (p.Asp357Tyr) c.1078G>T (p.Asp360Tyr) c.1222G>T (p.Asp408Tyr) c.*931G>T (n.*931G>T) c.1204G>T (p.Asp402Tyr) c.1264G>T (p.Asp422Tyr) n.1140G>T c.1186G>T (p.Asp396Tyr) c.1456G>T (p.Asp486Tyr) c.1465G>T (p.Asp489Tyr) c.811G>T (p.Asp271Tyr) c.1255G>T (p.Asp419Tyr) | |
| 9 | g.135765745A>C | CA375501810 | KCNT1 | c.1322A>C (p.Asp441Ala) c.12A>C n.49A>C n.61A>C c.1163A>C (p.Asp388Ala) c.1070A>C (p.Asp357Ala) c.1079A>C (p.Asp360Ala) c.1223A>C (p.Asp408Ala) c.*932A>C (n.*932A>C) c.1205A>C (p.Asp402Ala) c.1265A>C (p.Asp422Ala) n.1141A>C c.1187A>C (p.Asp396Ala) c.1457A>C (p.Asp486Ala) c.1466A>C (p.Asp489Ala) c.812A>C (p.Asp271Ala) c.1256A>C (p.Asp419Ala) | |
| 9 | g.135765745A>G | CA375501812 | KCNT1 | c.1322A>G (p.Asp441Gly) c.12A>G n.49A>G n.61A>G c.1163A>G (p.Asp388Gly) c.1070A>G (p.Asp357Gly) c.1079A>G (p.Asp360Gly) c.1223A>G (p.Asp408Gly) c.*932A>G (n.*932A>G) c.1205A>G (p.Asp402Gly) c.1265A>G (p.Asp422Gly) n.1141A>G c.1187A>G (p.Asp396Gly) c.1457A>G (p.Asp486Gly) c.1466A>G (p.Asp489Gly) c.812A>G (p.Asp271Gly) c.1256A>G (p.Asp419Gly) | |
| 9 | g.135765745A>T | CA375501815 | KCNT1 | c.1322A>T (p.Asp441Val) c.12A>T n.49A>T n.61A>T c.1163A>T (p.Asp388Val) c.1070A>T (p.Asp357Val) c.1079A>T (p.Asp360Val) c.1223A>T (p.Asp408Val) c.*932A>T (n.*932A>T) c.1205A>T (p.Asp402Val) c.1265A>T (p.Asp422Val) n.1141A>T c.1187A>T (p.Asp396Val) c.1457A>T (p.Asp486Val) c.1466A>T (p.Asp489Val) c.812A>T (p.Asp271Val) c.1256A>T (p.Asp419Val) | |
| 9 | g.135765746C>A | CA5326843 | KCNT1 | c.1323C>A (p.Asp441Glu) c.13C>A n.50C>A n.62C>A c.1164C>A (p.Asp388Glu) c.1071C>A (p.Asp357Glu) c.1080C>A (p.Asp360Glu) c.1224C>A (p.Asp408Glu) c.*933C>A (n.*933C>A) c.1206C>A (p.Asp402Glu) c.1266C>A (p.Asp422Glu) n.1142C>A c.1188C>A (p.Asp396Glu) c.1458C>A (p.Asp486Glu) c.1467C>A (p.Asp489Glu) c.813C>A (p.Asp271Glu) c.1257C>A (p.Asp419Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765746C= | CA1883866701 | KCNT1 | c.1323C= (p.Asp441=) c.13C= n.50C= n.62C= c.1164C= (p.Asp388=) c.1071C= (p.Asp357=) c.1080C= (p.Asp360=) c.1224C= (p.Asp408=) c.*933C= (n.*933C=) c.1206C= (p.Asp402=) c.1266C= (p.Asp422=) n.1142C= c.1188C= (p.Asp396=) c.1458C= (p.Asp486=) c.1467C= (p.Asp489=) c.813C= (p.Asp271=) c.1257C= (p.Asp419=) |