Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.27463224T>A | CA370809144 | CHRNA2 | c.1219A>T (p.Asn407Tyr) c.1174A>T (p.Asn392Tyr) n.290-1470A>T c.1153A>T (p.Asn385Tyr) c.*621A>T (n.*621A>T) c.742A>T (p.Asn248Tyr) c.625A>T (p.Asn209Tyr) | |
8 | g.27463224T>C | CA370809145 | CHRNA2 | c.1219A>G (p.Asn407Asp) c.1174A>G (p.Asn392Asp) n.290-1470A>G c.1153A>G (p.Asn385Asp) c.*621A>G (n.*621A>G) c.742A>G (p.Asn248Asp) c.625A>G (p.Asn209Asp) | |
8 | g.27463224T>G | CA370809142 | CHRNA2 | c.1219A>C (p.Asn407His) c.1174A>C (p.Asn392His) n.290-1470A>C c.1153A>C (p.Asn385His) c.*621A>C (n.*621A>C) c.742A>C (p.Asn248His) c.625A>C (p.Asn209His) | |
8 | g.27463225G>A | CA460186217 | CHRNA2 | c.1218C>T (p.Ser406=) c.1173C>T (p.Ser391=) n.290-1471C>T c.1152C>T (p.Ser384=) c.*620C>T (n.*620C>T) c.741C>T (p.Ser247=) c.624C>T (p.Ser208=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463225G>C | CA4689500 | CHRNA2 | c.1218C>G (p.Ser406Arg) c.1173C>G (p.Ser391Arg) n.290-1471C>G c.1152C>G (p.Ser384Arg) c.*620C>G (n.*620C>G) c.741C>G (p.Ser247Arg) c.624C>G (p.Ser208Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463225G= | CA1772813668 | CHRNA2 | c.1218C= (p.Ser406=) c.1173C= (p.Ser391=) n.290-1471C= c.1152C= (p.Ser384=) c.*620C= (n.*620C=) c.741C= (p.Ser247=) c.624C= (p.Ser208=) | |
8 | g.27463225G>T | CA370809146 | CHRNA2 | c.1218C>A (p.Ser406Arg) c.1173C>A (p.Ser391Arg) n.290-1471C>A c.1152C>A (p.Ser384Arg) c.*620C>A (n.*620C>A) c.741C>A (p.Ser247Arg) c.624C>A (p.Ser208Arg) | |
8 | g.27463226C>A | CA370809151 | CHRNA2 | c.1217G>T (p.Ser406Ile) c.1172G>T (p.Ser391Ile) n.290-1472G>T c.1151G>T (p.Ser384Ile) c.*619G>T (n.*619G>T) c.740G>T (p.Ser247Ile) c.623G>T (p.Ser208Ile) | gnomAD v4 |
8 | g.27463226C= | CA1772813672 | CHRNA2 | c.1217G= (p.Ser406=) c.1172G= (p.Ser391=) n.290-1472G= c.1151G= (p.Ser384=) c.*619G= (n.*619G=) c.740G= (p.Ser247=) c.623G= (p.Ser208=) | |
8 | g.27463226C>G | CA370809148 | CHRNA2 | c.1217G>C (p.Ser406Thr) c.1172G>C (p.Ser391Thr) n.290-1472G>C c.1151G>C (p.Ser384Thr) c.*619G>C (n.*619G>C) c.740G>C (p.Ser247Thr) c.623G>C (p.Ser208Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463226C>T | CA370809149 | CHRNA2 | c.1217G>A (p.Ser406Asn) c.1172G>A (p.Ser391Asn) n.290-1472G>A c.1151G>A (p.Ser384Asn) c.*619G>A (n.*619G>A) c.740G>A (p.Ser247Asn) c.623G>A (p.Ser208Asn) | COSMIC |
8 | g.27463227T>A | CA370809152 | CHRNA2 | c.1216A>T (p.Ser406Cys) c.1171A>T (p.Ser391Cys) n.290-1473A>T c.1150A>T (p.Ser384Cys) c.*618A>T (n.*618A>T) c.739A>T (p.Ser247Cys) c.622A>T (p.Ser208Cys) | |
8 | g.27463227T>C | CA370809154 | CHRNA2 | c.1216A>G (p.Ser406Gly) c.1171A>G (p.Ser391Gly) n.290-1473A>G c.1150A>G (p.Ser384Gly) c.*618A>G (n.*618A>G) c.739A>G (p.Ser247Gly) c.622A>G (p.Ser208Gly) | gnomAD v4 |
8 | g.27463227T>G | CA370809155 | CHRNA2 | c.1216A>C (p.Ser406Arg) c.1171A>C (p.Ser391Arg) n.290-1473A>C c.1150A>C (p.Ser384Arg) c.*618A>C (n.*618A>C) c.739A>C (p.Ser247Arg) c.622A>C (p.Ser208Arg) | |
8 | g.27463228C>A | CA370809156 | CHRNA2 | c.1215G>T (p.Glu405Asp) c.1170G>T (p.Glu390Asp) n.290-1474G>T c.1149G>T (p.Glu383Asp) c.*617G>T (n.*617G>T) c.738G>T (p.Glu246Asp) c.621G>T (p.Glu207Asp) | |
8 | g.27463228C= | CA1772813676 | CHRNA2 | c.1215G= (p.Glu405=) c.1170G= (p.Glu390=) n.290-1474G= c.1149G= (p.Glu383=) c.*617G= (n.*617G=) c.738G= (p.Glu246=) c.621G= (p.Glu207=) | |
8 | g.27463228C>G | CA370809158 | CHRNA2 | c.1215G>C (p.Glu405Asp) c.1170G>C (p.Glu390Asp) n.290-1474G>C c.1149G>C (p.Glu383Asp) c.*617G>C (n.*617G>C) c.738G>C (p.Glu246Asp) c.621G>C (p.Glu207Asp) | |
8 | g.27463228C>T | CA174241435 | CHRNA2 | c.1215G>A (p.Glu405=) c.1170G>A (p.Glu390=) n.290-1474G>A c.1149G>A (p.Glu383=) c.*617G>A (n.*617G>A) c.738G>A (p.Glu246=) c.621G>A (p.Glu207=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463229T>A | CA370809159 | CHRNA2 | c.1214A>T (p.Glu405Val) c.1169A>T (p.Glu390Val) n.290-1475A>T c.1148A>T (p.Glu383Val) c.*616A>T (n.*616A>T) c.737A>T (p.Glu246Val) c.620A>T (p.Glu207Val) | |
8 | g.27463229T>C | CA4689501 | CHRNA2 | c.1214A>G (p.Glu405Gly) c.1169A>G (p.Glu390Gly) n.290-1475A>G c.1148A>G (p.Glu383Gly) c.*616A>G (n.*616A>G) c.737A>G (p.Glu246Gly) c.620A>G (p.Glu207Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463229T>G | CA370809161 | CHRNA2 | c.1214A>C (p.Glu405Ala) c.1169A>C (p.Glu390Ala) n.290-1475A>C c.1148A>C (p.Glu383Ala) c.*616A>C (n.*616A>C) c.737A>C (p.Glu246Ala) c.620A>C (p.Glu207Ala) | gnomAD v4 |
8 | g.27463229T= | CA1772813680 | CHRNA2 | c.1214A= (p.Glu405=) c.1169A= (p.Glu390=) n.290-1475A= c.1148A= (p.Glu383=) c.*616A= (n.*616A=) c.737A= (p.Glu246=) c.620A= (p.Glu207=) | |
8 | g.27463230C>A | CA370809162 | CHRNA2 | c.1213G>T (p.Glu405Ter) c.1168G>T (p.Glu390Ter) n.290-1476G>T c.1147G>T (p.Glu383Ter) c.*615G>T (n.*615G>T) c.736G>T (p.Glu246Ter) c.619G>T (p.Glu207Ter) | |
8 | g.27463230C= | CA1772813683 | CHRNA2 | c.1213G= (p.Glu405=) c.1168G= (p.Glu390=) n.290-1476G= c.1147G= (p.Glu383=) c.*615G= (n.*615G=) c.736G= (p.Glu246=) c.619G= (p.Glu207=) | |
8 | g.27463230C>G | CA370809163 | CHRNA2 | c.1213G>C (p.Glu405Gln) c.1168G>C (p.Glu390Gln) n.290-1476G>C c.1147G>C (p.Glu383Gln) c.*615G>C (n.*615G>C) c.736G>C (p.Glu246Gln) c.619G>C (p.Glu207Gln) | gnomAD v4 |
8 | g.27463230C>T | CA370809165 | CHRNA2 | c.1213G>A (p.Glu405Lys) c.1168G>A (p.Glu390Lys) n.290-1476G>A c.1147G>A (p.Glu383Lys) c.*615G>A (n.*615G>A) c.736G>A (p.Glu246Lys) c.619G>A (p.Glu207Lys) | dbSNP gnomAD v4 |
8 | g.27463231C>A | CA460186223 | CHRNA2 | c.1212G>T (p.Leu404=) c.1167G>T (p.Leu389=) n.290-1477G>T c.1146G>T (p.Leu382=) c.*614G>T (n.*614G>T) c.735G>T (p.Leu245=) c.618G>T (p.Leu206=) | |
8 | g.27463231C>G | CA460186225 | CHRNA2 | c.1212G>C (p.Leu404=) c.1167G>C (p.Leu389=) n.290-1477G>C c.1146G>C (p.Leu382=) c.*614G>C (n.*614G>C) c.735G>C (p.Leu245=) c.618G>C (p.Leu206=) | |
8 | g.27463231C>T | CA460186227 | CHRNA2 | c.1212G>A (p.Leu404=) c.1167G>A (p.Leu389=) n.290-1477G>A c.1146G>A (p.Leu382=) c.*614G>A (n.*614G>A) c.735G>A (p.Leu245=) c.618G>A (p.Leu206=) | |
8 | g.27463232A>C | CA370809166 | CHRNA2 | c.1211T>G (p.Leu404Arg) c.1166T>G (p.Leu389Arg) n.290-1478T>G c.1145T>G (p.Leu382Arg) c.*613T>G (n.*613T>G) c.734T>G (p.Leu245Arg) c.617T>G (p.Leu206Arg) | |
8 | g.27463232A>G | CA370809169 | CHRNA2 | c.1211T>C (p.Leu404Pro) c.1166T>C (p.Leu389Pro) n.290-1478T>C c.1145T>C (p.Leu382Pro) c.*613T>C (n.*613T>C) c.734T>C (p.Leu245Pro) c.617T>C (p.Leu206Pro) | |
8 | g.27463232A>T | CA370809167 | CHRNA2 | c.1211T>A (p.Leu404Gln) c.1166T>A (p.Leu389Gln) n.290-1478T>A c.1145T>A (p.Leu382Gln) c.*613T>A (n.*613T>A) c.734T>A (p.Leu245Gln) c.617T>A (p.Leu206Gln) | |
8 | g.27463233G>A | CA460186233 | CHRNA2 | c.1210C>T (p.Leu404=) c.1165C>T (p.Leu389=) n.290-1479C>T c.1144C>T (p.Leu382=) c.*612C>T (n.*612C>T) c.733C>T (p.Leu245=) c.616C>T (p.Leu206=) | |
8 | g.27463233G>C | CA370809170 | CHRNA2 | c.1210C>G (p.Leu404Val) c.1165C>G (p.Leu389Val) n.290-1479C>G c.1144C>G (p.Leu382Val) c.*612C>G (n.*612C>G) c.733C>G (p.Leu245Val) c.616C>G (p.Leu206Val) | |
8 | g.27463233G>T | CA370809172 | CHRNA2 | c.1210C>A (p.Leu404Met) c.1165C>A (p.Leu389Met) n.290-1479C>A c.1144C>A (p.Leu382Met) c.*612C>A (n.*612C>A) c.733C>A (p.Leu245Met) c.616C>A (p.Leu206Met) | |
8 | g.27463234C>A | CA370809174 | CHRNA2 | c.1209G>T (p.Trp403Cys) c.1164G>T (p.Trp388Cys) n.290-1480G>T c.1143G>T (p.Trp381Cys) c.*611G>T (n.*611G>T) c.732G>T (p.Trp244Cys) c.615G>T (p.Trp205Cys) | gnomAD v4 |
8 | g.27463234C>G | CA370809175 | CHRNA2 | c.1209G>C (p.Trp403Cys) c.1164G>C (p.Trp388Cys) n.290-1480G>C c.1143G>C (p.Trp381Cys) c.*611G>C (n.*611G>C) c.732G>C (p.Trp244Cys) c.615G>C (p.Trp205Cys) | gnomAD v4 |
8 | g.27463234C>T | CA370809176 | CHRNA2 | c.1209G>A (p.Trp403Ter) c.1164G>A (p.Trp388Ter) n.290-1480G>A c.1143G>A (p.Trp381Ter) c.*611G>A (n.*611G>A) c.732G>A (p.Trp244Ter) c.615G>A (p.Trp205Ter) | |
8 | g.27463235C>A | CA370809178 | CHRNA2 | c.1208G>T (p.Trp403Leu) c.1163G>T (p.Trp388Leu) n.290-1481G>T c.1142G>T (p.Trp381Leu) c.*610G>T (n.*610G>T) c.731G>T (p.Trp244Leu) c.614G>T (p.Trp205Leu) | |
8 | g.27463235C>G | CA370809179 | CHRNA2 | c.1208G>C (p.Trp403Ser) c.1163G>C (p.Trp388Ser) n.290-1481G>C c.1142G>C (p.Trp381Ser) c.*610G>C (n.*610G>C) c.731G>C (p.Trp244Ser) c.614G>C (p.Trp205Ser) | |
8 | g.27463235C>T | CA370809181 | CHRNA2 | c.1208G>A (p.Trp403Ter) c.1163G>A (p.Trp388Ter) n.290-1481G>A c.1142G>A (p.Trp381Ter) c.*610G>A (n.*610G>A) c.731G>A (p.Trp244Ter) c.614G>A (p.Trp205Ter) | |
8 | g.27463236A>C | CA370809183 | CHRNA2 | c.1207T>G (p.Trp403Gly) c.1162T>G (p.Trp388Gly) n.290-1482T>G c.1141T>G (p.Trp381Gly) c.*609T>G (n.*609T>G) c.730T>G (p.Trp244Gly) c.613T>G (p.Trp205Gly) | |
8 | g.27463236A>G | CA370809184 | CHRNA2 | c.1207T>C (p.Trp403Arg) c.1162T>C (p.Trp388Arg) n.290-1482T>C c.1141T>C (p.Trp381Arg) c.*609T>C (n.*609T>C) c.730T>C (p.Trp244Arg) c.613T>C (p.Trp205Arg) | |
8 | g.27463236A>T | CA370809185 | CHRNA2 | c.1207T>A (p.Trp403Arg) c.1162T>A (p.Trp388Arg) n.290-1482T>A c.1141T>A (p.Trp381Arg) c.*609T>A (n.*609T>A) c.730T>A (p.Trp244Arg) c.613T>A (p.Trp205Arg) | |
8 | g.27463237G>A | CA460186256 | CHRNA2 | c.1206C>T (p.His402=) c.1161C>T (p.His387=) n.290-1483C>T c.1140C>T (p.His380=) c.*608C>T (n.*608C>T) c.729C>T (p.His243=) c.612C>T (p.His204=) | ClinVar dbSNP gnomAD v4 |
8 | g.27463237G>C | CA370809189 | CHRNA2 | c.1206C>G (p.His402Gln) c.1161C>G (p.His387Gln) n.290-1483C>G c.1140C>G (p.His380Gln) c.*608C>G (n.*608C>G) c.729C>G (p.His243Gln) c.612C>G (p.His204Gln) | |
8 | g.27463237G>T | CA370809187 | CHRNA2 | c.1206C>A (p.His402Gln) c.1161C>A (p.His387Gln) n.290-1483C>A c.1140C>A (p.His380Gln) c.*608C>A (n.*608C>A) c.729C>A (p.His243Gln) c.612C>A (p.His204Gln) | |
8 | g.27463238T>A | CA370809190 | CHRNA2 | c.1205A>T (p.His402Leu) c.1160A>T (p.His387Leu) n.290-1484A>T c.1139A>T (p.His380Leu) c.*607A>T (n.*607A>T) c.728A>T (p.His243Leu) c.611A>T (p.His204Leu) | |
8 | g.27463238T>C | CA370809191 | CHRNA2 | c.1205A>G (p.His402Arg) c.1160A>G (p.His387Arg) n.290-1484A>G c.1139A>G (p.His380Arg) c.*607A>G (n.*607A>G) c.728A>G (p.His243Arg) c.611A>G (p.His204Arg) | dbSNP |
8 | g.27463238T>G | CA370809193 | CHRNA2 | c.1205A>C (p.His402Pro) c.1160A>C (p.His387Pro) n.290-1484A>C c.1139A>C (p.His380Pro) c.*607A>C (n.*607A>C) c.728A>C (p.His243Pro) c.611A>C (p.His204Pro) | |
8 | g.27463238T= | CA1772813686 | CHRNA2 | c.1205A= (p.His402=) c.1160A= (p.His387=) n.290-1484A= c.1139A= (p.His380=) c.*607A= (n.*607A=) c.728A= (p.His243=) c.611A= (p.His204=) | |
8 | g.27463239G>A | CA4689502 | CHRNA2 | c.1204C>T (p.His402Tyr) c.1159C>T (p.His387Tyr) n.290-1485C>T c.1138C>T (p.His380Tyr) c.*606C>T (n.*606C>T) c.727C>T (p.His243Tyr) c.610C>T (p.His204Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463239G>C | CA370809194 | CHRNA2 | c.1204C>G (p.His402Asp) c.1159C>G (p.His387Asp) n.290-1485C>G c.1138C>G (p.His380Asp) c.*606C>G (n.*606C>G) c.727C>G (p.His243Asp) c.610C>G (p.His204Asp) | |
8 | g.27463239G= | CA1772813688 | CHRNA2 | c.1204C= (p.His402=) c.1159C= (p.His387=) n.290-1485C= c.1138C= (p.His380=) c.*606C= (n.*606C=) c.727C= (p.His243=) c.610C= (p.His204=) | |
8 | g.27463239G>T | CA370809195 | CHRNA2 | c.1204C>A (p.His402Asn) c.1159C>A (p.His387Asn) n.290-1485C>A c.1138C>A (p.His380Asn) c.*606C>A (n.*606C>A) c.727C>A (p.His243Asn) c.610C>A (p.His204Asn) | |
8 | g.27463240A= | CA1772813690 | CHRNA2 | c.1203T= (p.Tyr401=) c.1158T= (p.Tyr386=) n.290-1486T= c.1137T= (p.Tyr379=) c.*605T= (n.*605T=) c.726T= (p.Tyr242=) c.609T= (p.Tyr203=) | |
8 | g.27463240A>C | CA370809197 | CHRNA2 | c.1203T>G (p.Tyr401Ter) c.1158T>G (p.Tyr386Ter) n.290-1486T>G c.1137T>G (p.Tyr379Ter) c.*605T>G (n.*605T>G) c.726T>G (p.Tyr242Ter) c.609T>G (p.Tyr203Ter) | |
8 | g.27463240A>G | CA460186262 | CHRNA2 | c.1203T>C (p.Tyr401=) c.1158T>C (p.Tyr386=) n.290-1486T>C c.1137T>C (p.Tyr379=) c.*605T>C (n.*605T>C) c.726T>C (p.Tyr242=) c.609T>C (p.Tyr203=) | gnomAD v4 |
8 | g.27463240A>T | CA370809198 | CHRNA2 | c.1203T>A (p.Tyr401Ter) c.1158T>A (p.Tyr386Ter) n.290-1486T>A c.1137T>A (p.Tyr379Ter) c.*605T>A (n.*605T>A) c.726T>A (p.Tyr242Ter) c.609T>A (p.Tyr203Ter) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463241T>A | CA370809199 | CHRNA2 | c.1202A>T (p.Tyr401Phe) c.1157A>T (p.Tyr386Phe) n.290-1487A>T c.1136A>T (p.Tyr379Phe) c.*604A>T (n.*604A>T) c.725A>T (p.Tyr242Phe) c.608A>T (p.Tyr203Phe) | |
8 | g.27463241T>C | CA4689503 | CHRNA2 | c.1202A>G (p.Tyr401Cys) c.1157A>G (p.Tyr386Cys) n.290-1487A>G c.1136A>G (p.Tyr379Cys) c.*604A>G (n.*604A>G) c.725A>G (p.Tyr242Cys) c.608A>G (p.Tyr203Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463241T>G | CA370809201 | CHRNA2 | c.1202A>C (p.Tyr401Ser) c.1157A>C (p.Tyr386Ser) n.290-1487A>C c.1136A>C (p.Tyr379Ser) c.*604A>C (n.*604A>C) c.725A>C (p.Tyr242Ser) c.608A>C (p.Tyr203Ser) | |
8 | g.27463241T= | CA1772813693 | CHRNA2 | c.1202A= (p.Tyr401=) c.1157A= (p.Tyr386=) n.290-1487A= c.1136A= (p.Tyr379=) c.*604A= (n.*604A=) c.725A= (p.Tyr242=) c.608A= (p.Tyr203=) | |
8 | g.27463241_27463242delinsTA | CA1772813694 | CHRNA2 | c.1201_1202delinsTA (p.Tyr401=) c.1156_1157delinsTA (p.Tyr386=) n.290-1488_290-1487delinsTA c.1135_1136delinsTA (p.Tyr379=) c.*603_*604delinsTA (n.*603_*604delinsTA) c.724_725delinsTA (p.Tyr242=) c.607_608delinsTA (p.Tyr203=) | |
8 | g.27463242A>C | CA370809203 | CHRNA2 | c.1201T>G (p.Tyr401Asp) c.1156T>G (p.Tyr386Asp) n.290-1488T>G c.1135T>G (p.Tyr379Asp) c.*603T>G (n.*603T>G) c.724T>G (p.Tyr242Asp) c.607T>G (p.Tyr203Asp) | |
8 | g.27463242A>G | CA370809205 | CHRNA2 | c.1201T>C (p.Tyr401His) c.1156T>C (p.Tyr386His) n.290-1488T>C c.1135T>C (p.Tyr379His) c.*603T>C (n.*603T>C) c.724T>C (p.Tyr242His) c.607T>C (p.Tyr203His) | |
8 | g.27463242A>T | CA370809206 | CHRNA2 | c.1201T>A (p.Tyr401Asn) c.1156T>A (p.Tyr386Asn) n.290-1488T>A c.1135T>A (p.Tyr379Asn) c.*603T>A (n.*603T>A) c.724T>A (p.Tyr242Asn) c.607T>A (p.Tyr203Asn) | |
8 | g.27463243del | CA174241444 | CHRNA2 | c.1201del (p.Tyr401IlefsTer?) c.1156del (p.Tyr386IlefsTer?) n.290-1488del c.1135del (p.Tyr379IlefsTer?) c.*603del (n.*603del) c.724del (p.Tyr242IlefsTer?) c.607del (p.Tyr203IlefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463243A= | CA1772813701 | CHRNA2 | c.1200T= (p.Ser400=) c.1155T= (p.Ser385=) n.290-1489T= c.1134T= (p.Ser378=) c.*602T= (n.*602T=) c.723T= (p.Ser241=) c.606T= (p.Ser202=) | |
8 | g.27463243A>C | CA174241445 | CHRNA2 | c.1200T>G (p.Ser400=) c.1155T>G (p.Ser385=) n.290-1489T>G c.1134T>G (p.Ser378=) c.*602T>G (n.*602T>G) c.723T>G (p.Ser241=) c.606T>G (p.Ser202=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463243A>G | CA460186265 | CHRNA2 | c.1200T>C (p.Ser400=) c.1155T>C (p.Ser385=) n.290-1489T>C c.1134T>C (p.Ser378=) c.*602T>C (n.*602T>C) c.723T>C (p.Ser241=) c.606T>C (p.Ser202=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463243A>T | CA460186264 | CHRNA2 | c.1200T>A (p.Ser400=) c.1155T>A (p.Ser385=) n.290-1489T>A c.1134T>A (p.Ser378=) c.*602T>A (n.*602T>A) c.723T>A (p.Ser241=) c.606T>A (p.Ser202=) | |
8 | g.27463245_27463246del | CA2686678222 | CHRNA2 | c.1199_1200del (p.Ser400LeufsTer?) c.1154_1155del (p.Ser385LeufsTer?) n.290-1490_290-1489del c.1133_1134del (p.Ser378LeufsTer?) c.*601_*602del (n.*601_*602del) c.722_723del (p.Ser241LeufsTer?) c.605_606del (p.Ser202LeufsTer?) | gnomAD v4 |
8 | g.27463244G>A | CA370809207 | CHRNA2 | c.1199C>T (p.Ser400Phe) c.1154C>T (p.Ser385Phe) n.290-1490C>T c.1133C>T (p.Ser378Phe) c.*601C>T (n.*601C>T) c.722C>T (p.Ser241Phe) c.605C>T (p.Ser202Phe) | |
8 | g.27463244G>C | CA370809208 | CHRNA2 | c.1199C>G (p.Ser400Cys) c.1154C>G (p.Ser385Cys) n.290-1490C>G c.1133C>G (p.Ser378Cys) c.*601C>G (n.*601C>G) c.722C>G (p.Ser241Cys) c.605C>G (p.Ser202Cys) | gnomAD v4 |
8 | g.27463244G>T | CA370809210 | CHRNA2 | c.1199C>A (p.Ser400Tyr) c.1154C>A (p.Ser385Tyr) n.290-1490C>A c.1133C>A (p.Ser378Tyr) c.*601C>A (n.*601C>A) c.722C>A (p.Ser241Tyr) c.605C>A (p.Ser202Tyr) | |
8 | g.27463245A= | CA1772813705 | CHRNA2 | c.1198T= (p.Ser400=) c.1153T= (p.Ser385=) n.290-1491T= c.1132T= (p.Ser378=) c.*600T= (n.*600T=) c.721T= (p.Ser241=) c.604T= (p.Ser202=) | |
8 | g.27463245A>C | CA370809211 | CHRNA2 | c.1198T>G (p.Ser400Ala) c.1153T>G (p.Ser385Ala) n.290-1491T>G c.1132T>G (p.Ser378Ala) c.*600T>G (n.*600T>G) c.721T>G (p.Ser241Ala) c.604T>G (p.Ser202Ala) | dbSNP gnomAD v4 |
8 | g.27463245A>G | CA370809212 | CHRNA2 | c.1198T>C (p.Ser400Pro) c.1153T>C (p.Ser385Pro) n.290-1491T>C c.1132T>C (p.Ser378Pro) c.*600T>C (n.*600T>C) c.721T>C (p.Ser241Pro) c.604T>C (p.Ser202Pro) | dbSNP gnomAD v4 |
8 | g.27463245A>T | CA4689504 | CHRNA2 | c.1198T>A (p.Ser400Thr) c.1153T>A (p.Ser385Thr) n.290-1491T>A c.1132T>A (p.Ser378Thr) c.*600T>A (n.*600T>A) c.721T>A (p.Ser241Thr) c.604T>A (p.Ser202Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463246G>A | CA460186273 | CHRNA2 | c.1197C>T (p.Pro399=) c.1152C>T (p.Pro384=) n.290-1492C>T c.1131C>T (p.Pro377=) c.*599C>T (n.*599C>T) c.720C>T (p.Pro240=) c.603C>T (p.Pro201=) | dbSNP |
8 | g.27463246G>C | CA460186274 | CHRNA2 | c.1197C>G (p.Pro399=) c.1152C>G (p.Pro384=) n.290-1492C>G c.1131C>G (p.Pro377=) c.*599C>G (n.*599C>G) c.720C>G (p.Pro240=) c.603C>G (p.Pro201=) | |
8 | g.27463246G= | CA1772813708 | CHRNA2 | c.1197C= (p.Pro399=) c.1152C= (p.Pro384=) n.290-1492C= c.1131C= (p.Pro377=) c.*599C= (n.*599C=) c.720C= (p.Pro240=) c.603C= (p.Pro201=) | |
8 | g.27463246G>T | CA460186275 | CHRNA2 | c.1197C>A (p.Pro399=) c.1152C>A (p.Pro384=) n.290-1492C>A c.1131C>A (p.Pro377=) c.*599C>A (n.*599C>A) c.720C>A (p.Pro240=) c.603C>A (p.Pro201=) | |
8 | g.27463247G>A | CA370809215 | CHRNA2 | c.1196C>T (p.Pro399Leu) c.1151C>T (p.Pro384Leu) n.290-1493C>T c.1130C>T (p.Pro377Leu) c.*598C>T (n.*598C>T) c.719C>T (p.Pro240Leu) c.602C>T (p.Pro201Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463247G>C | CA370809216 | CHRNA2 | c.1196C>G (p.Pro399Arg) c.1151C>G (p.Pro384Arg) n.290-1493C>G c.1130C>G (p.Pro377Arg) c.*598C>G (n.*598C>G) c.719C>G (p.Pro240Arg) c.602C>G (p.Pro201Arg) | |
8 | g.27463247G= | CA1772813711 | CHRNA2 | c.1196C= (p.Pro399=) c.1151C= (p.Pro384=) n.290-1493C= c.1130C= (p.Pro377=) c.*598C= (n.*598C=) c.719C= (p.Pro240=) c.602C= (p.Pro201=) | |
8 | g.27463247G>T | CA370809217 | CHRNA2 | c.1196C>A (p.Pro399His) c.1151C>A (p.Pro384His) n.290-1493C>A c.1130C>A (p.Pro377His) c.*598C>A (n.*598C>A) c.719C>A (p.Pro240His) c.602C>A (p.Pro201His) | |
8 | g.27463248G>A | CA370809218 | CHRNA2 | c.1195C>T (p.Pro399Ser) c.1150C>T (p.Pro384Ser) n.290-1494C>T c.1129C>T (p.Pro377Ser) c.*597C>T (n.*597C>T) c.718C>T (p.Pro240Ser) c.601C>T (p.Pro201Ser) | |
8 | g.27463248G>C | CA370809219 | CHRNA2 | c.1195C>G (p.Pro399Ala) c.1150C>G (p.Pro384Ala) n.290-1494C>G c.1129C>G (p.Pro377Ala) c.*597C>G (n.*597C>G) c.718C>G (p.Pro240Ala) c.601C>G (p.Pro201Ala) | |
8 | g.27463248G>T | CA370809221 | CHRNA2 | c.1195C>A (p.Pro399Thr) c.1150C>A (p.Pro384Thr) n.290-1494C>A c.1129C>A (p.Pro377Thr) c.*597C>A (n.*597C>A) c.718C>A (p.Pro240Thr) c.601C>A (p.Pro201Thr) | |
8 | g.27463249G>A | CA460186284 | CHRNA2 | c.1194C>T (p.Ser398=) c.1149C>T (p.Ser383=) n.290-1495C>T c.1128C>T (p.Ser376=) c.*596C>T (n.*596C>T) c.717C>T (p.Ser239=) c.600C>T (p.Ser200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.27463249G>C | CA370809222 | CHRNA2 | c.1194C>G (p.Ser398Arg) c.1149C>G (p.Ser383Arg) n.290-1495C>G c.1128C>G (p.Ser376Arg) c.*596C>G (n.*596C>G) c.717C>G (p.Ser239Arg) c.600C>G (p.Ser200Arg) | |
8 | g.27463249G= | CA1772813717 | CHRNA2 | c.1194C= (p.Ser398=) c.1149C= (p.Ser383=) n.290-1495C= c.1128C= (p.Ser376=) c.*596C= (n.*596C=) c.717C= (p.Ser239=) c.600C= (p.Ser200=) | |
8 | g.27463249G>T | CA370809224 | CHRNA2 | c.1194C>A (p.Ser398Arg) c.1149C>A (p.Ser383Arg) n.290-1495C>A c.1128C>A (p.Ser376Arg) c.*596C>A (n.*596C>A) c.717C>A (p.Ser239Arg) c.600C>A (p.Ser200Arg) | gnomAD v4 |
8 | g.27463250C>A | CA370809228 | CHRNA2 | c.1193G>T (p.Ser398Ile) c.1148G>T (p.Ser383Ile) n.290-1496G>T c.1127G>T (p.Ser376Ile) c.*595G>T (n.*595G>T) c.716G>T (p.Ser239Ile) c.599G>T (p.Ser200Ile) | gnomAD v4 |
8 | g.27463250C>G | CA370809227 | CHRNA2 | c.1193G>C (p.Ser398Thr) c.1148G>C (p.Ser383Thr) n.290-1496G>C c.1127G>C (p.Ser376Thr) c.*595G>C (n.*595G>C) c.716G>C (p.Ser239Thr) c.599G>C (p.Ser200Thr) | |
8 | g.27463250C>T | CA370809226 | CHRNA2 | c.1193G>A (p.Ser398Asn) c.1148G>A (p.Ser383Asn) n.290-1496G>A c.1127G>A (p.Ser376Asn) c.*595G>A (n.*595G>A) c.716G>A (p.Ser239Asn) c.599G>A (p.Ser200Asn) | |
8 | g.27463251T>A | CA370809231 | CHRNA2 | c.1192A>T (p.Ser398Cys) c.1147A>T (p.Ser383Cys) n.290-1497A>T c.1126A>T (p.Ser376Cys) c.*594A>T (n.*594A>T) c.715A>T (p.Ser239Cys) c.598A>T (p.Ser200Cys) | |
8 | g.27463251T>C | CA370809230 | CHRNA2 | c.1192A>G (p.Ser398Gly) c.1147A>G (p.Ser383Gly) n.290-1497A>G c.1126A>G (p.Ser376Gly) c.*594A>G (n.*594A>G) c.715A>G (p.Ser239Gly) c.598A>G (p.Ser200Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463251T>G | CA370809233 | CHRNA2 | c.1192A>C (p.Ser398Arg) c.1147A>C (p.Ser383Arg) n.290-1497A>C c.1126A>C (p.Ser376Arg) c.*594A>C (n.*594A>C) c.715A>C (p.Ser239Arg) c.598A>C (p.Ser200Arg) | |
8 | g.27463251T= | CA1772813721 | CHRNA2 | c.1192A= (p.Ser398=) c.1147A= (p.Ser383=) n.290-1497A= c.1126A= (p.Ser376=) c.*594A= (n.*594A=) c.715A= (p.Ser239=) c.598A= (p.Ser200=) | |
8 | g.27463252G>A | CA460186292 | CHRNA2 | c.1191C>T (p.Leu397=) c.1146C>T (p.Leu382=) n.290-1498C>T c.1125C>T (p.Leu375=) c.*593C>T (n.*593C>T) c.714C>T (p.Leu238=) c.597C>T (p.Leu199=) | gnomAD v4 |
8 | g.27463252G>C | CA460186293 | CHRNA2 | c.1191C>G (p.Leu397=) c.1146C>G (p.Leu382=) n.290-1498C>G c.1125C>G (p.Leu375=) c.*593C>G (n.*593C>G) c.714C>G (p.Leu238=) c.597C>G (p.Leu199=) | |
8 | g.27463252G>T | CA460186295 | CHRNA2 | c.1191C>A (p.Leu397=) c.1146C>A (p.Leu382=) n.290-1498C>A c.1125C>A (p.Leu375=) c.*593C>A (n.*593C>A) c.714C>A (p.Leu238=) c.597C>A (p.Leu199=) | |
8 | g.27463253A= | CA1772813724 | CHRNA2 | c.1190T= (p.Leu397=) c.1145T= (p.Leu382=) n.290-1499T= c.1124T= (p.Leu375=) c.*592T= (n.*592T=) c.713T= (p.Leu238=) c.596T= (p.Leu199=) | |
8 | g.27463253A>C | CA370809234 | CHRNA2 | c.1190T>G (p.Leu397Arg) c.1145T>G (p.Leu382Arg) n.290-1499T>G c.1124T>G (p.Leu375Arg) c.*592T>G (n.*592T>G) c.713T>G (p.Leu238Arg) c.596T>G (p.Leu199Arg) | |
8 | g.27463253A>G | CA370809236 | CHRNA2 | c.1190T>C (p.Leu397Pro) c.1145T>C (p.Leu382Pro) n.290-1499T>C c.1124T>C (p.Leu375Pro) c.*592T>C (n.*592T>C) c.713T>C (p.Leu238Pro) c.596T>C (p.Leu199Pro) | gnomAD v4 |
8 | g.27463253A>T | CA370809237 | CHRNA2 | c.1190T>A (p.Leu397His) c.1145T>A (p.Leu382His) n.290-1499T>A c.1124T>A (p.Leu375His) c.*592T>A (n.*592T>A) c.713T>A (p.Leu238His) c.596T>A (p.Leu199His) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463254G>A | CA370809238 | CHRNA2 | c.1189C>T (p.Leu397Phe) c.1144C>T (p.Leu382Phe) n.290-1500C>T c.1123C>T (p.Leu375Phe) c.*591C>T (n.*591C>T) c.712C>T (p.Leu238Phe) c.595C>T (p.Leu199Phe) | dbSNP |
8 | g.27463254G>C | CA370809240 | CHRNA2 | c.1189C>G (p.Leu397Val) c.1144C>G (p.Leu382Val) n.290-1500C>G c.1123C>G (p.Leu375Val) c.*591C>G (n.*591C>G) c.712C>G (p.Leu238Val) c.595C>G (p.Leu199Val) | |
8 | g.27463254G= | CA1772813726 | CHRNA2 | c.1189C= (p.Leu397=) c.1144C= (p.Leu382=) n.290-1500C= c.1123C= (p.Leu375=) c.*591C= (n.*591C=) c.712C= (p.Leu238=) c.595C= (p.Leu199=) | |
8 | g.27463254G>T | CA370809241 | CHRNA2 | c.1189C>A (p.Leu397Ile) c.1144C>A (p.Leu382Ile) n.290-1500C>A c.1123C>A (p.Leu375Ile) c.*591C>A (n.*591C>A) c.712C>A (p.Leu238Ile) c.595C>A (p.Leu199Ile) | |
8 | g.27463255C>A | CA370809243 | CHRNA2 | c.1188G>T (p.Lys396Asn) c.1143G>T (p.Lys381Asn) n.290-1501G>T c.1122G>T (p.Lys374Asn) c.*590G>T (n.*590G>T) c.711G>T (p.Lys237Asn) c.594G>T (p.Lys198Asn) | gnomAD v4 |
8 | g.27463255C= | CA1772813728 | CHRNA2 | c.1188G= (p.Lys396=) c.1143G= (p.Lys381=) n.290-1501G= c.1122G= (p.Lys374=) c.*590G= (n.*590G=) c.711G= (p.Lys237=) c.594G= (p.Lys198=) | |
8 | g.27463255C>G | CA370809245 | CHRNA2 | c.1188G>C (p.Lys396Asn) c.1143G>C (p.Lys381Asn) n.290-1501G>C c.1122G>C (p.Lys374Asn) c.*590G>C (n.*590G>C) c.711G>C (p.Lys237Asn) c.594G>C (p.Lys198Asn) | |
8 | g.27463255C>T | CA460186300 | CHRNA2 | c.1188G>A (p.Lys396=) c.1143G>A (p.Lys381=) n.290-1501G>A c.1122G>A (p.Lys374=) c.*590G>A (n.*590G>A) c.711G>A (p.Lys237=) c.594G>A (p.Lys198=) | ClinVar dbSNP gnomAD v4 |
8 | g.27463256T>A | CA370809246 | CHRNA2 | c.1187A>T (p.Lys396Met) c.1142A>T (p.Lys381Met) n.290-1502A>T c.1121A>T (p.Lys374Met) c.*589A>T (n.*589A>T) c.710A>T (p.Lys237Met) c.593A>T (p.Lys198Met) | |
8 | g.27463256T>C | CA370809247 | CHRNA2 | c.1187A>G (p.Lys396Arg) c.1142A>G (p.Lys381Arg) n.290-1502A>G c.1121A>G (p.Lys374Arg) c.*589A>G (n.*589A>G) c.710A>G (p.Lys237Arg) c.593A>G (p.Lys198Arg) | gnomAD v4 |
8 | g.27463256T>G | CA370809248 | CHRNA2 | c.1187A>C (p.Lys396Thr) c.1142A>C (p.Lys381Thr) n.290-1502A>C c.1121A>C (p.Lys374Thr) c.*589A>C (n.*589A>C) c.710A>C (p.Lys237Thr) c.593A>C (p.Lys198Thr) | |
8 | g.27463257T>A | CA370809252 | CHRNA2 | c.1186A>T (p.Lys396Ter) c.1141A>T (p.Lys381Ter) n.290-1503A>T c.1120A>T (p.Lys374Ter) c.*588A>T (n.*588A>T) c.709A>T (p.Lys237Ter) c.592A>T (p.Lys198Ter) | |
8 | g.27463257T>C | CA370809251 | CHRNA2 | c.1186A>G (p.Lys396Glu) c.1141A>G (p.Lys381Glu) n.290-1503A>G c.1120A>G (p.Lys374Glu) c.*588A>G (n.*588A>G) c.709A>G (p.Lys237Glu) c.592A>G (p.Lys198Glu) | |
8 | g.27463257T>G | CA370809250 | CHRNA2 | c.1186A>C (p.Lys396Gln) c.1141A>C (p.Lys381Gln) n.290-1503A>C c.1120A>C (p.Lys374Gln) c.*588A>C (n.*588A>C) c.709A>C (p.Lys237Gln) c.592A>C (p.Lys198Gln) | |
8 | g.27463258C>A | CA460186302 | CHRNA2 | c.1185G>T (p.Leu395=) c.1140G>T (p.Leu380=) n.290-1504G>T c.1119G>T (p.Leu373=) c.*587G>T (n.*587G>T) c.708G>T (p.Leu236=) c.591G>T (p.Leu197=) | |
8 | g.27463258C>G | CA460186304 | CHRNA2 | c.1185G>C (p.Leu395=) c.1140G>C (p.Leu380=) n.290-1504G>C c.1119G>C (p.Leu373=) c.*587G>C (n.*587G>C) c.708G>C (p.Leu236=) c.591G>C (p.Leu197=) | |
8 | g.27463258C>T | CA460186308 | CHRNA2 | c.1185G>A (p.Leu395=) c.1140G>A (p.Leu380=) n.290-1504G>A c.1119G>A (p.Leu373=) c.*587G>A (n.*587G>A) c.708G>A (p.Leu236=) c.591G>A (p.Leu197=) | |
8 | g.27463259A>C | CA370809253 | CHRNA2 | c.1184T>G (p.Leu395Arg) c.1139T>G (p.Leu380Arg) n.290-1505T>G c.1118T>G (p.Leu373Arg) c.*586T>G (n.*586T>G) c.707T>G (p.Leu236Arg) c.590T>G (p.Leu197Arg) | |
8 | g.27463259A>G | CA370809255 | CHRNA2 | c.1184T>C (p.Leu395Pro) c.1139T>C (p.Leu380Pro) n.290-1505T>C c.1118T>C (p.Leu373Pro) c.*586T>C (n.*586T>C) c.707T>C (p.Leu236Pro) c.590T>C (p.Leu197Pro) | gnomAD v4 |
8 | g.27463259A>T | CA370809256 | CHRNA2 | c.1184T>A (p.Leu395Gln) c.1139T>A (p.Leu380Gln) n.290-1505T>A c.1118T>A (p.Leu373Gln) c.*586T>A (n.*586T>A) c.707T>A (p.Leu236Gln) c.590T>A (p.Leu197Gln) | |
8 | g.27463260G>A | CA460186310 | CHRNA2 | c.1183C>T (p.Leu395=) c.1138C>T (p.Leu380=) n.290-1506C>T c.1117C>T (p.Leu373=) c.*585C>T (n.*585C>T) c.706C>T (p.Leu236=) c.589C>T (p.Leu197=) | |
8 | g.27463260G>C | CA370809258 | CHRNA2 | c.1183C>G (p.Leu395Val) c.1138C>G (p.Leu380Val) n.290-1506C>G c.1117C>G (p.Leu373Val) c.*585C>G (n.*585C>G) c.706C>G (p.Leu236Val) c.589C>G (p.Leu197Val) | |
8 | g.27463260G>T | CA370809259 | CHRNA2 | c.1183C>A (p.Leu395Met) c.1138C>A (p.Leu380Met) n.290-1506C>A c.1117C>A (p.Leu373Met) c.*585C>A (n.*585C>A) c.706C>A (p.Leu236Met) c.589C>A (p.Leu197Met) | |
8 | g.27463261G>A | CA4689505 | CHRNA2 | c.1182C>T (p.Arg394=) c.1137C>T (p.Arg379=) n.290-1507C>T c.1116C>T (p.Arg372=) c.*584C>T (n.*584C>T) c.705C>T (p.Arg235=) c.588C>T (p.Arg196=) | dbSNP ExAC gnomAD v4 |
8 | g.27463261G>C | CA460186312 | CHRNA2 | c.1182C>G (p.Arg394=) c.1137C>G (p.Arg379=) n.290-1507C>G c.1116C>G (p.Arg372=) c.*584C>G (n.*584C>G) c.705C>G (p.Arg235=) c.588C>G (p.Arg196=) | |
8 | g.27463261G= | CA1772813732 | CHRNA2 | c.1182C= (p.Arg394=) c.1137C= (p.Arg379=) n.290-1507C= c.1116C= (p.Arg372=) c.*584C= (n.*584C=) c.705C= (p.Arg235=) c.588C= (p.Arg196=) | |
8 | g.27463261G>T | CA460186313 | CHRNA2 | c.1182C>A (p.Arg394=) c.1137C>A (p.Arg379=) n.290-1507C>A c.1116C>A (p.Arg372=) c.*584C>A (n.*584C>A) c.705C>A (p.Arg235=) c.588C>A (p.Arg196=) | |
8 | g.27463262C>A | CA370809260 | CHRNA2 | c.1181G>T (p.Arg394Leu) c.1136G>T (p.Arg379Leu) n.290-1508G>T c.1115G>T (p.Arg372Leu) c.*583G>T (n.*583G>T) c.704G>T (p.Arg235Leu) c.587G>T (p.Arg196Leu) | gnomAD v4 |
8 | g.27463262C= | CA1772813738 | CHRNA2 | c.1181G= (p.Arg394=) c.1136G= (p.Arg379=) n.290-1508G= c.1115G= (p.Arg372=) c.*583G= (n.*583G=) c.704G= (p.Arg235=) c.587G= (p.Arg196=) | |
8 | g.27463262C>G | CA313417 | CHRNA2 | c.1181G>C (p.Arg394Pro) c.1136G>C (p.Arg379Pro) n.290-1508G>C c.1115G>C (p.Arg372Pro) c.*583G>C (n.*583G>C) c.704G>C (p.Arg235Pro) c.587G>C (p.Arg196Pro) | ClinVar dbSNP |
8 | g.27463262C>T | CA4689506 | CHRNA2 | c.1181G>A (p.Arg394His) c.1136G>A (p.Arg379His) n.290-1508G>A c.1115G>A (p.Arg372His) c.*583G>A (n.*583G>A) c.704G>A (p.Arg235His) c.587G>A (p.Arg196His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463263G>A | CA16612305 | CHRNA2 | c.1180C>T (p.Arg394Cys) c.1135C>T (p.Arg379Cys) n.290-1509C>T c.1114C>T (p.Arg372Cys) c.*582C>T (n.*582C>T) c.703C>T (p.Arg235Cys) c.586C>T (p.Arg196Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463263G>C | CA370809262 | CHRNA2 | c.1180C>G (p.Arg394Gly) c.1135C>G (p.Arg379Gly) n.290-1509C>G c.1114C>G (p.Arg372Gly) c.*582C>G (n.*582C>G) c.703C>G (p.Arg235Gly) c.586C>G (p.Arg196Gly) | |
8 | g.27463263G= | CA1772813747 | CHRNA2 | c.1180C= (p.Arg394=) c.1135C= (p.Arg379=) n.290-1509C= c.1114C= (p.Arg372=) c.*582C= (n.*582C=) c.703C= (p.Arg235=) c.586C= (p.Arg196=) | |
8 | g.27463263G>T | CA370809264 | CHRNA2 | c.1180C>A (p.Arg394Ser) c.1135C>A (p.Arg379Ser) n.290-1509C>A c.1114C>A (p.Arg372Ser) c.*582C>A (n.*582C>A) c.703C>A (p.Arg235Ser) c.586C>A (p.Arg196Ser) | gnomAD v4 |
8 | g.27463264T>A | CA460186321 | CHRNA2 | c.1179A>T (p.Leu393=) c.1134A>T (p.Leu378=) n.290-1510A>T c.1113A>T (p.Leu371=) c.*581A>T (n.*581A>T) c.702A>T (p.Leu234=) c.585A>T (p.Leu195=) | |
8 | g.27463264T>C | CA460186320 | CHRNA2 | c.1179A>G (p.Leu393=) c.1134A>G (p.Leu378=) n.290-1510A>G c.1113A>G (p.Leu371=) c.*581A>G (n.*581A>G) c.702A>G (p.Leu234=) c.585A>G (p.Leu195=) | |
8 | g.27463264T>G | CA460186319 | CHRNA2 | c.1179A>C (p.Leu393=) c.1134A>C (p.Leu378=) n.290-1510A>C c.1113A>C (p.Leu371=) c.*581A>C (n.*581A>C) c.702A>C (p.Leu234=) c.585A>C (p.Leu195=) | dbSNP |
8 | g.27463264T= | CA1772813752 | CHRNA2 | c.1179A= (p.Leu393=) c.1134A= (p.Leu378=) n.290-1510A= c.1113A= (p.Leu371=) c.*581A= (n.*581A=) c.702A= (p.Leu234=) c.585A= (p.Leu195=) | |
8 | g.27463265A>C | CA370809267 | CHRNA2 | c.1178T>G (p.Leu393Arg) c.1133T>G (p.Leu378Arg) n.290-1511T>G c.1112T>G (p.Leu371Arg) c.*580T>G (n.*580T>G) c.701T>G (p.Leu234Arg) c.584T>G (p.Leu195Arg) | |
8 | g.27463265A>G | CA370809268 | CHRNA2 | c.1178T>C (p.Leu393Pro) c.1133T>C (p.Leu378Pro) n.290-1511T>C c.1112T>C (p.Leu371Pro) c.*580T>C (n.*580T>C) c.701T>C (p.Leu234Pro) c.584T>C (p.Leu195Pro) | ClinVar dbSNP gnomAD v4 |
8 | g.27463265A>T | CA370809265 | CHRNA2 | c.1178T>A (p.Leu393Gln) c.1133T>A (p.Leu378Gln) n.290-1511T>A c.1112T>A (p.Leu371Gln) c.*580T>A (n.*580T>A) c.701T>A (p.Leu234Gln) c.584T>A (p.Leu195Gln) | |
8 | g.27463266G>A | CA460186328 | CHRNA2 | c.1177C>T (p.Leu393=) c.1132C>T (p.Leu378=) n.290-1512C>T c.1111C>T (p.Leu371=) c.*579C>T (n.*579C>T) c.700C>T (p.Leu234=) c.583C>T (p.Leu195=) | |
8 | g.27463266G>C | CA370809270 | CHRNA2 | c.1177C>G (p.Leu393Val) c.1132C>G (p.Leu378Val) n.290-1512C>G c.1111C>G (p.Leu371Val) c.*579C>G (n.*579C>G) c.700C>G (p.Leu234Val) c.583C>G (p.Leu195Val) | gnomAD v4 |
8 | g.27463266G>T | CA370809271 | CHRNA2 | c.1177C>A (p.Leu393Ile) c.1132C>A (p.Leu378Ile) n.290-1512C>A c.1111C>A (p.Leu371Ile) c.*579C>A (n.*579C>A) c.700C>A (p.Leu234Ile) c.583C>A (p.Leu195Ile) | |
8 | g.27463270del | CA2686678223 | CHRNA2 | c.1177del (p.Leu393TyrfsTer3) c.1132del (p.Leu378TyrfsTer3) n.290-1512del c.1111del (p.Leu371TyrfsTer3) c.*579del (n.*579del) c.700del (p.Leu234TyrfsTer3) c.583del (p.Leu195TyrfsTer3) | gnomAD v4 |
8 | g.27463267G>A | CA4689507 | CHRNA2 | c.1176C>T (p.Pro392=) c.1131C>T (p.Pro377=) n.290-1513C>T c.1110C>T (p.Pro370=) c.*578C>T (n.*578C>T) c.699C>T (p.Pro233=) c.582C>T (p.Pro194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463267G>C | CA460186330 | CHRNA2 | c.1176C>G (p.Pro392=) c.1131C>G (p.Pro377=) n.290-1513C>G c.1110C>G (p.Pro370=) c.*578C>G (n.*578C>G) c.699C>G (p.Pro233=) c.582C>G (p.Pro194=) | gnomAD v4 |
8 | g.27463267G= | CA1772813757 | CHRNA2 | c.1176C= (p.Pro392=) c.1131C= (p.Pro377=) n.290-1513C= c.1110C= (p.Pro370=) c.*578C= (n.*578C=) c.699C= (p.Pro233=) c.582C= (p.Pro194=) | |
8 | g.27463267G>T | CA4689508 | CHRNA2 | c.1176C>A (p.Pro392=) c.1131C>A (p.Pro377=) n.290-1513C>A c.1110C>A (p.Pro370=) c.*578C>A (n.*578C>A) c.699C>A (p.Pro233=) c.582C>A (p.Pro194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463268G>A | CA370809274 | CHRNA2 | c.1175C>T (p.Pro392Leu) c.1130C>T (p.Pro377Leu) n.290-1514C>T c.1109C>T (p.Pro370Leu) c.*577C>T (n.*577C>T) c.698C>T (p.Pro233Leu) c.581C>T (p.Pro194Leu) | |
8 | g.27463268G>C | CA174241469 | CHRNA2 | c.1175C>G (p.Pro392Arg) c.1130C>G (p.Pro377Arg) n.290-1514C>G c.1109C>G (p.Pro370Arg) c.*577C>G (n.*577C>G) c.698C>G (p.Pro233Arg) c.581C>G (p.Pro194Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463268G= | CA1772813761 | CHRNA2 | c.1175C= (p.Pro392=) c.1130C= (p.Pro377=) n.290-1514C= c.1109C= (p.Pro370=) c.*577C= (n.*577C=) c.698C= (p.Pro233=) c.581C= (p.Pro194=) | |
8 | g.27463268G>T | CA370809275 | CHRNA2 | c.1175C>A (p.Pro392His) c.1130C>A (p.Pro377His) n.290-1514C>A c.1109C>A (p.Pro370His) c.*577C>A (n.*577C>A) c.698C>A (p.Pro233His) c.581C>A (p.Pro194His) | dbSNP |
8 | g.27463269G>A | CA4689509 | CHRNA2 | c.1174C>T (p.Pro392Ser) c.1129C>T (p.Pro377Ser) n.290-1515C>T c.1108C>T (p.Pro370Ser) c.*576C>T (n.*576C>T) c.697C>T (p.Pro233Ser) c.580C>T (p.Pro194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463269G>C | CA370809278 | CHRNA2 | c.1174C>G (p.Pro392Ala) c.1129C>G (p.Pro377Ala) n.290-1515C>G c.1108C>G (p.Pro370Ala) c.*576C>G (n.*576C>G) c.697C>G (p.Pro233Ala) c.580C>G (p.Pro194Ala) | ClinVar dbSNP |
8 | g.27463269G= | CA1772813769 | CHRNA2 | c.1174C= (p.Pro392=) c.1129C= (p.Pro377=) n.290-1515C= c.1108C= (p.Pro370=) c.*576C= (n.*576C=) c.697C= (p.Pro233=) c.580C= (p.Pro194=) | |
8 | g.27463269G>T | CA370809279 | CHRNA2 | c.1174C>A (p.Pro392Thr) c.1129C>A (p.Pro377Thr) n.290-1515C>A c.1108C>A (p.Pro370Thr) c.*576C>A (n.*576C>A) c.697C>A (p.Pro233Thr) c.580C>A (p.Pro194Thr) | |
8 | g.27463269_27463270insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCG | CA580954954 | CHRNA2 | c.1174_1175insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro392ArgfsTer5) c.1129_1130insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro377ArgfsTer5) n.290-1515_290-1514insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC c.1108_1109insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro370ArgfsTer5) c.*576_*577insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (n.*576_*577insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC) c.697_698insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro233ArgfsTer5) c.580_581insGAGAAGCCATTTAGTGTGGCATTTGCCCACTTCCTTCTCCACAGCCATGTGCCAGATAGAGCATGATCTTTTCGTCCAGGAGGTTAGCATCCCCAGGCTTCCTACTGTTTGCCCATAGCCCTTTCTTTTTTGTAGAAAGCCCAGAC (p.Pro194ArgfsTer5) | dbSNP gnomAD v2 |
8 | g.27463270G>A | CA4689510 | CHRNA2 | c.1173C>T (p.His391=) c.1128C>T (p.His376=) n.290-1516C>T c.1107C>T (p.His369=) c.*575C>T (n.*575C>T) c.696C>T (p.His232=) c.579C>T (p.His193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463270G>C | CA370809281 | CHRNA2 | c.1173C>G (p.His391Gln) c.1128C>G (p.His376Gln) n.290-1516C>G c.1107C>G (p.His369Gln) c.*575C>G (n.*575C>G) c.696C>G (p.His232Gln) c.579C>G (p.His193Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463270G= | CA1772813775 | CHRNA2 | c.1173C= (p.His391=) c.1128C= (p.His376=) n.290-1516C= c.1107C= (p.His369=) c.*575C= (n.*575C=) c.696C= (p.His232=) c.579C= (p.His193=) | |
8 | g.27463270G>T | CA4689511 | CHRNA2 | c.1173C>A (p.His391Gln) c.1128C>A (p.His376Gln) n.290-1516C>A c.1107C>A (p.His369Gln) c.*575C>A (n.*575C>A) c.696C>A (p.His232Gln) c.579C>A (p.His193Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463271T>A | CA370809287 | CHRNA2 | c.1172A>T (p.His391Leu) c.1127A>T (p.His376Leu) n.290-1517A>T c.1106A>T (p.His369Leu) c.*574A>T (n.*574A>T) c.695A>T (p.His232Leu) c.578A>T (p.His193Leu) | |
8 | g.27463271T>C | CA370809285 | CHRNA2 | c.1172A>G (p.His391Arg) c.1127A>G (p.His376Arg) n.290-1517A>G c.1106A>G (p.His369Arg) c.*574A>G (n.*574A>G) c.695A>G (p.His232Arg) c.578A>G (p.His193Arg) | dbSNP |
8 | g.27463271T>G | CA370809284 | CHRNA2 | c.1172A>C (p.His391Pro) c.1127A>C (p.His376Pro) n.290-1517A>C c.1106A>C (p.His369Pro) c.*574A>C (n.*574A>C) c.695A>C (p.His232Pro) c.578A>C (p.His193Pro) | dbSNP |
8 | g.27463271T= | CA1772813780 | CHRNA2 | c.1172A= (p.His391=) c.1127A= (p.His376=) n.290-1517A= c.1106A= (p.His369=) c.*574A= (n.*574A=) c.695A= (p.His232=) c.578A= (p.His193=) | |
8 | g.27463272G>A | CA370809288 | CHRNA2 | c.1171C>T (p.His391Tyr) c.1126C>T (p.His376Tyr) n.290-1518C>T c.1105C>T (p.His369Tyr) c.*573C>T (n.*573C>T) c.694C>T (p.His232Tyr) c.577C>T (p.His193Tyr) | |
8 | g.27463272G>C | CA370809289 | CHRNA2 | c.1171C>G (p.His391Asp) c.1126C>G (p.His376Asp) n.290-1518C>G c.1105C>G (p.His369Asp) c.*573C>G (n.*573C>G) c.694C>G (p.His232Asp) c.577C>G (p.His193Asp) | |
8 | g.27463272G>T | CA370809291 | CHRNA2 | c.1171C>A (p.His391Asn) c.1126C>A (p.His376Asn) n.290-1518C>A c.1105C>A (p.His369Asn) c.*573C>A (n.*573C>A) c.694C>A (p.His232Asn) c.577C>A (p.His193Asn) | |
8 | g.27463273G>A | CA460186335 | CHRNA2 | c.1170C>T (p.Cys390=) c.1125C>T (p.Cys375=) n.290-1519C>T c.1104C>T (p.Cys368=) c.*572C>T (n.*572C>T) c.693C>T (p.Cys231=) c.576C>T (p.Cys192=) | gnomAD v4 |
8 | g.27463273G>C | CA370809292 | CHRNA2 | c.1170C>G (p.Cys390Trp) c.1125C>G (p.Cys375Trp) n.290-1519C>G c.1104C>G (p.Cys368Trp) c.*572C>G (n.*572C>G) c.693C>G (p.Cys231Trp) c.576C>G (p.Cys192Trp) | |
8 | g.27463273G>T | CA370809294 | CHRNA2 | c.1170C>A (p.Cys390Ter) c.1125C>A (p.Cys375Ter) n.290-1519C>A c.1104C>A (p.Cys368Ter) c.*572C>A (n.*572C>A) c.693C>A (p.Cys231Ter) c.576C>A (p.Cys192Ter) | |
8 | g.27463274C>A | CA370809295 | CHRNA2 | c.1169G>T (p.Cys390Phe) c.1124G>T (p.Cys375Phe) n.290-1520G>T c.1103G>T (p.Cys368Phe) c.*571G>T (n.*571G>T) c.692G>T (p.Cys231Phe) c.575G>T (p.Cys192Phe) | |
8 | g.27463274C>G | CA370809297 | CHRNA2 | c.1169G>C (p.Cys390Ser) c.1124G>C (p.Cys375Ser) n.290-1520G>C c.1103G>C (p.Cys368Ser) c.*571G>C (n.*571G>C) c.692G>C (p.Cys231Ser) c.575G>C (p.Cys192Ser) | |
8 | g.27463274C>T | CA370809298 | CHRNA2 | c.1169G>A (p.Cys390Tyr) c.1124G>A (p.Cys375Tyr) n.290-1520G>A c.1103G>A (p.Cys368Tyr) c.*571G>A (n.*571G>A) c.692G>A (p.Cys231Tyr) c.575G>A (p.Cys192Tyr) | gnomAD v4 |
8 | g.27463275A>C | CA370809300 | CHRNA2 | c.1168T>G (p.Cys390Gly) c.1123T>G (p.Cys375Gly) n.290-1521T>G c.1102T>G (p.Cys368Gly) c.*570T>G (n.*570T>G) c.691T>G (p.Cys231Gly) c.574T>G (p.Cys192Gly) | |
8 | g.27463275A>G | CA370809302 | CHRNA2 | c.1168T>C (p.Cys390Arg) c.1123T>C (p.Cys375Arg) n.290-1521T>C c.1102T>C (p.Cys368Arg) c.*570T>C (n.*570T>C) c.691T>C (p.Cys231Arg) c.574T>C (p.Cys192Arg) | |
8 | g.27463275A>T | CA370809303 | CHRNA2 | c.1168T>A (p.Cys390Ser) c.1123T>A (p.Cys375Ser) n.290-1521T>A c.1102T>A (p.Cys368Ser) c.*570T>A (n.*570T>A) c.691T>A (p.Cys231Ser) c.574T>A (p.Cys192Ser) | |
8 | g.27463275dup | CA2686678224 | CHRNA2 | c.1168dup (p.Cys390LeufsTer?) c.1123dup (p.Cys375LeufsTer?) n.290-1521dup c.1102dup (p.Cys368LeufsTer?) c.*570dup (n.*570dup) c.691dup (p.Cys231LeufsTer?) c.574dup (p.Cys192LeufsTer?) | gnomAD v4 |
8 | g.27463276G>A | CA460186341 | CHRNA2 | c.1167C>T (p.Leu389=) c.1122C>T (p.Leu374=) n.290-1522C>T c.1101C>T (p.Leu367=) c.*569C>T (n.*569C>T) c.690C>T (p.Leu230=) c.573C>T (p.Leu191=) | |
8 | g.27463276G>C | CA460186346 | CHRNA2 | c.1167C>G (p.Leu389=) c.1122C>G (p.Leu374=) n.290-1522C>G c.1101C>G (p.Leu367=) c.*569C>G (n.*569C>G) c.690C>G (p.Leu230=) c.573C>G (p.Leu191=) | |
8 | g.27463276G>T | CA460186343 | CHRNA2 | c.1167C>A (p.Leu389=) c.1122C>A (p.Leu374=) n.290-1522C>A c.1101C>A (p.Leu367=) c.*569C>A (n.*569C>A) c.690C>A (p.Leu230=) c.573C>A (p.Leu191=) | |
8 | g.27463277A>C | CA370809304 | CHRNA2 | c.1166T>G (p.Leu389Arg) c.1121T>G (p.Leu374Arg) n.290-1523T>G c.1100T>G (p.Leu367Arg) c.*568T>G (n.*568T>G) c.689T>G (p.Leu230Arg) c.572T>G (p.Leu191Arg) | |
8 | g.27463277A>G | CA370809306 | CHRNA2 | c.1166T>C (p.Leu389Pro) c.1121T>C (p.Leu374Pro) n.290-1523T>C c.1100T>C (p.Leu367Pro) c.*568T>C (n.*568T>C) c.689T>C (p.Leu230Pro) c.572T>C (p.Leu191Pro) | gnomAD v4 |
8 | g.27463277A>T | CA370809307 | CHRNA2 | c.1166T>A (p.Leu389His) c.1121T>A (p.Leu374His) n.290-1523T>A c.1100T>A (p.Leu367His) c.*568T>A (n.*568T>A) c.689T>A (p.Leu230His) c.572T>A (p.Leu191His) | |
8 | g.27463278G>A | CA313466 | CHRNA2 | c.1165C>T (p.Leu389Phe) c.1120C>T (p.Leu374Phe) n.290-1524C>T c.1099C>T (p.Leu367Phe) c.*567C>T (n.*567C>T) c.688C>T (p.Leu230Phe) c.571C>T (p.Leu191Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463278G>C | CA370809310 | CHRNA2 | c.1165C>G (p.Leu389Val) c.1120C>G (p.Leu374Val) n.290-1524C>G c.1099C>G (p.Leu367Val) c.*567C>G (n.*567C>G) c.688C>G (p.Leu230Val) c.571C>G (p.Leu191Val) | |
8 | g.27463278G= | CA1772813783 | CHRNA2 | c.1165C= (p.Leu389=) c.1120C= (p.Leu374=) n.290-1524C= c.1099C= (p.Leu367=) c.*567C= (n.*567C=) c.688C= (p.Leu230=) c.571C= (p.Leu191=) | |
8 | g.27463278G>T | CA174241479 | CHRNA2 | c.1165C>A (p.Leu389Ile) c.1120C>A (p.Leu374Ile) n.290-1524C>A c.1099C>A (p.Leu367Ile) c.*567C>A (n.*567C>A) c.688C>A (p.Leu230Ile) c.571C>A (p.Leu191Ile) | dbSNP |
8 | g.27463279C>A | CA370809311 | CHRNA2 | c.1164G>T (p.Glu388Asp) c.1119G>T (p.Glu373Asp) n.290-1525G>T c.1098G>T (p.Glu366Asp) c.*566G>T (n.*566G>T) c.687G>T (p.Glu229Asp) c.570G>T (p.Glu190Asp) | COSMIC |
8 | g.27463279C= | CA1772813787 | CHRNA2 | c.1164G= (p.Glu388=) c.1119G= (p.Glu373=) n.290-1525G= c.1098G= (p.Glu366=) c.*566G= (n.*566G=) c.687G= (p.Glu229=) c.570G= (p.Glu190=) | |
8 | g.27463279C>G | CA370809312 | CHRNA2 | c.1164G>C (p.Glu388Asp) c.1119G>C (p.Glu373Asp) n.290-1525G>C c.1098G>C (p.Glu366Asp) c.*566G>C (n.*566G>C) c.687G>C (p.Glu229Asp) c.570G>C (p.Glu190Asp) | |
8 | g.27463279C>T | CA460186358 | CHRNA2 | c.1164G>A (p.Glu388=) c.1119G>A (p.Glu373=) n.290-1525G>A c.1098G>A (p.Glu366=) c.*566G>A (n.*566G>A) c.687G>A (p.Glu229=) c.570G>A (p.Glu190=) | ClinVar dbSNP |
8 | g.27463280T>A | CA370809313 | CHRNA2 | c.1163A>T (p.Glu388Val) c.1118A>T (p.Glu373Val) n.290-1526A>T c.1097A>T (p.Glu366Val) c.*565A>T (n.*565A>T) c.686A>T (p.Glu229Val) c.569A>T (p.Glu190Val) | |
8 | g.27463280T>C | CA10630788 | CHRNA2 | c.1163A>G (p.Glu388Gly) c.1118A>G (p.Glu373Gly) n.290-1526A>G c.1097A>G (p.Glu366Gly) c.*565A>G (n.*565A>G) c.686A>G (p.Glu229Gly) c.569A>G (p.Glu190Gly) | ClinVar dbSNP |
8 | g.27463280T>G | CA370809315 | CHRNA2 | c.1163A>C (p.Glu388Ala) c.1118A>C (p.Glu373Ala) n.290-1526A>C c.1097A>C (p.Glu366Ala) c.*565A>C (n.*565A>C) c.686A>C (p.Glu229Ala) c.569A>C (p.Glu190Ala) | |
8 | g.27463280T= | CA1772813792 | CHRNA2 | c.1163A= (p.Glu388=) c.1118A= (p.Glu373=) n.290-1526A= c.1097A= (p.Glu366=) c.*565A= (n.*565A=) c.686A= (p.Glu229=) c.569A= (p.Glu190=) | |
8 | g.27463281C>A | CA370809317 | CHRNA2 | c.1162G>T (p.Glu388Ter) c.1117G>T (p.Glu373Ter) n.290-1527G>T c.1096G>T (p.Glu366Ter) c.*564G>T (n.*564G>T) c.685G>T (p.Glu229Ter) c.568G>T (p.Glu190Ter) | |
8 | g.27463281C>G | CA370809318 | CHRNA2 | c.1162G>C (p.Glu388Gln) c.1117G>C (p.Glu373Gln) n.290-1527G>C c.1096G>C (p.Glu366Gln) c.*564G>C (n.*564G>C) c.685G>C (p.Glu229Gln) c.568G>C (p.Glu190Gln) | |
8 | g.27463281C>T | CA370809319 | CHRNA2 | c.1162G>A (p.Glu388Lys) c.1117G>A (p.Glu373Lys) n.290-1527G>A c.1096G>A (p.Glu366Lys) c.*564G>A (n.*564G>A) c.685G>A (p.Glu229Lys) c.568G>A (p.Glu190Lys) | |
8 | g.27463282C>A | CA460186363 | CHRNA2 | c.1161G>T (p.Val387=) c.1116G>T (p.Val372=) n.290-1528G>T c.1095G>T (p.Val365=) c.*563G>T (n.*563G>T) c.684G>T (p.Val228=) c.567G>T (p.Val189=) | ClinVar gnomAD v4 |
8 | g.27463282C>G | CA460186365 | CHRNA2 | c.1161G>C (p.Val387=) c.1116G>C (p.Val372=) n.290-1528G>C c.1095G>C (p.Val365=) c.*563G>C (n.*563G>C) c.684G>C (p.Val228=) c.567G>C (p.Val189=) | |
8 | g.27463282C>T | CA460186366 | CHRNA2 | c.1161G>A (p.Val387=) c.1116G>A (p.Val372=) n.290-1528G>A c.1095G>A (p.Val365=) c.*563G>A (n.*563G>A) c.684G>A (p.Val228=) c.567G>A (p.Val189=) | |
8 | g.27463283A>C | CA370809320 | CHRNA2 | c.1160T>G (p.Val387Gly) c.1115T>G (p.Val372Gly) n.290-1529T>G c.1094T>G (p.Val365Gly) c.*562T>G (n.*562T>G) c.683T>G (p.Val228Gly) c.566T>G (p.Val189Gly) | gnomAD v4 |
8 | g.27463283A>G | CA370809323 | CHRNA2 | c.1160T>C (p.Val387Ala) c.1115T>C (p.Val372Ala) n.290-1529T>C c.1094T>C (p.Val365Ala) c.*562T>C (n.*562T>C) c.683T>C (p.Val228Ala) c.566T>C (p.Val189Ala) | |
8 | g.27463283A>T | CA370809322 | CHRNA2 | c.1160T>A (p.Val387Glu) c.1115T>A (p.Val372Glu) n.290-1529T>A c.1094T>A (p.Val365Glu) c.*562T>A (n.*562T>A) c.683T>A (p.Val228Glu) c.566T>A (p.Val189Glu) | |
8 | g.27463284C>A | CA370809325 | CHRNA2 | c.1159G>T (p.Val387Leu) c.1114G>T (p.Val372Leu) n.290-1530G>T c.1093G>T (p.Val365Leu) c.*561G>T (n.*561G>T) c.682G>T (p.Val228Leu) c.565G>T (p.Val189Leu) | dbSNP |
8 | g.27463284C= | CA1772813796 | CHRNA2 | c.1159G= (p.Val387=) c.1114G= (p.Val372=) n.290-1530G= c.1093G= (p.Val365=) c.*561G= (n.*561G=) c.682G= (p.Val228=) c.565G= (p.Val189=) | |
8 | g.27463284C>G | CA370809326 | CHRNA2 | c.1159G>C (p.Val387Leu) c.1114G>C (p.Val372Leu) n.290-1530G>C c.1093G>C (p.Val365Leu) c.*561G>C (n.*561G>C) c.682G>C (p.Val228Leu) c.565G>C (p.Val189Leu) | gnomAD v4 |
8 | g.27463284C>T | CA4689512 | CHRNA2 | c.1159G>A (p.Val387Met) c.1114G>A (p.Val372Met) n.290-1530G>A c.1093G>A (p.Val365Met) c.*561G>A (n.*561G>A) c.682G>A (p.Val228Met) c.565G>A (p.Val189Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463285G>A | CA4689513 | CHRNA2 | c.1158C>T (p.Pro386=) c.1113C>T (p.Pro371=) n.290-1531C>T c.1092C>T (p.Pro364=) c.*560C>T (n.*560C>T) c.681C>T (p.Pro227=) c.564C>T (p.Pro188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463285G>C | CA460186372 | CHRNA2 | c.1158C>G (p.Pro386=) c.1113C>G (p.Pro371=) n.290-1531C>G c.1092C>G (p.Pro364=) c.*560C>G (n.*560C>G) c.681C>G (p.Pro227=) c.564C>G (p.Pro188=) | |
8 | g.27463285G= | CA1772813804 | CHRNA2 | c.1158C= (p.Pro386=) c.1113C= (p.Pro371=) n.290-1531C= c.1092C= (p.Pro364=) c.*560C= (n.*560C=) c.681C= (p.Pro227=) c.564C= (p.Pro188=) | |
8 | g.27463285G>T | CA460186375 | CHRNA2 | c.1158C>A (p.Pro386=) c.1113C>A (p.Pro371=) n.290-1531C>A c.1092C>A (p.Pro364=) c.*560C>A (n.*560C>A) c.681C>A (p.Pro227=) c.564C>A (p.Pro188=) | |
8 | g.27463286G>A | CA370809328 | CHRNA2 | c.1157C>T (p.Pro386Leu) c.1112C>T (p.Pro371Leu) n.290-1532C>T c.1091C>T (p.Pro364Leu) c.*559C>T (n.*559C>T) c.680C>T (p.Pro227Leu) c.563C>T (p.Pro188Leu) | dbSNP |
8 | g.27463286G>C | CA370809331 | CHRNA2 | c.1157C>G (p.Pro386Arg) c.1112C>G (p.Pro371Arg) n.290-1532C>G c.1091C>G (p.Pro364Arg) c.*559C>G (n.*559C>G) c.680C>G (p.Pro227Arg) c.563C>G (p.Pro188Arg) | gnomAD v4 |
8 | g.27463286G>T | CA370809329 | CHRNA2 | c.1157C>A (p.Pro386His) c.1112C>A (p.Pro371His) n.290-1532C>A c.1091C>A (p.Pro364His) c.*559C>A (n.*559C>A) c.680C>A (p.Pro227His) c.563C>A (p.Pro188His) | |
8 | g.27463287G>A | CA370809332 | CHRNA2 | c.1156C>T (p.Pro386Ser) c.1111C>T (p.Pro371Ser) n.290-1533C>T c.1090C>T (p.Pro364Ser) c.*558C>T (n.*558C>T) c.679C>T (p.Pro227Ser) c.562C>T (p.Pro188Ser) | ClinVar dbSNP |
8 | g.27463287G>C | CA370809334 | CHRNA2 | c.1156C>G (p.Pro386Ala) c.1111C>G (p.Pro371Ala) n.290-1533C>G c.1090C>G (p.Pro364Ala) c.*558C>G (n.*558C>G) c.679C>G (p.Pro227Ala) c.562C>G (p.Pro188Ala) | |
8 | g.27463287G>T | CA370809335 | CHRNA2 | c.1156C>A (p.Pro386Thr) c.1111C>A (p.Pro371Thr) n.290-1533C>A c.1090C>A (p.Pro364Thr) c.*558C>A (n.*558C>A) c.679C>A (p.Pro227Thr) c.562C>A (p.Pro188Thr) | |
8 | g.27463288T>A | CA460186382 | CHRNA2 | c.1155A>T (p.Pro385=) c.1110A>T (p.Pro370=) n.290-1534A>T c.1089A>T (p.Pro363=) c.*557A>T (n.*557A>T) c.678A>T (p.Pro226=) c.561A>T (p.Pro187=) | |
8 | g.27463288T>C | CA460186383 | CHRNA2 | c.1155A>G (p.Pro385=) c.1110A>G (p.Pro370=) n.290-1534A>G c.1089A>G (p.Pro363=) c.*557A>G (n.*557A>G) c.678A>G (p.Pro226=) c.561A>G (p.Pro187=) | ClinVar dbSNP |
8 | g.27463288T>G | CA460186385 | CHRNA2 | c.1155A>C (p.Pro385=) c.1110A>C (p.Pro370=) n.290-1534A>C c.1089A>C (p.Pro363=) c.*557A>C (n.*557A>C) c.678A>C (p.Pro226=) c.561A>C (p.Pro187=) | dbSNP |
8 | g.27463288T= | CA1772813805 | CHRNA2 | c.1155A= (p.Pro385=) c.1110A= (p.Pro370=) n.290-1534A= c.1089A= (p.Pro363=) c.*557A= (n.*557A=) c.678A= (p.Pro226=) c.561A= (p.Pro187=) | |
8 | g.27463289G>A | CA4689514 | CHRNA2 | c.1154C>T (p.Pro385Leu) c.1109C>T (p.Pro370Leu) n.290-1535C>T c.1088C>T (p.Pro363Leu) c.*556C>T (n.*556C>T) c.677C>T (p.Pro226Leu) c.560C>T (p.Pro187Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463289G>C | CA370809337 | CHRNA2 | c.1154C>G (p.Pro385Arg) c.1109C>G (p.Pro370Arg) n.290-1535C>G c.1088C>G (p.Pro363Arg) c.*556C>G (n.*556C>G) c.677C>G (p.Pro226Arg) c.560C>G (p.Pro187Arg) | ClinVar gnomAD v4 |
8 | g.27463289G= | CA1772813808 | CHRNA2 | c.1154C= (p.Pro385=) c.1109C= (p.Pro370=) n.290-1535C= c.1088C= (p.Pro363=) c.*556C= (n.*556C=) c.677C= (p.Pro226=) c.560C= (p.Pro187=) | |
8 | g.27463289G>T | CA370809338 | CHRNA2 | c.1154C>A (p.Pro385Gln) c.1109C>A (p.Pro370Gln) n.290-1535C>A c.1088C>A (p.Pro363Gln) c.*556C>A (n.*556C>A) c.677C>A (p.Pro226Gln) c.560C>A (p.Pro187Gln) | |
8 | g.27463290G>A | CA370809339 | CHRNA2 | c.1153C>T (p.Pro385Ser) c.1108C>T (p.Pro370Ser) n.290-1536C>T c.1087C>T (p.Pro363Ser) c.*555C>T (n.*555C>T) c.676C>T (p.Pro226Ser) c.559C>T (p.Pro187Ser) | gnomAD v4 |
8 | g.27463290G>C | CA370809340 | CHRNA2 | c.1153C>G (p.Pro385Ala) c.1108C>G (p.Pro370Ala) n.290-1536C>G c.1087C>G (p.Pro363Ala) c.*555C>G (n.*555C>G) c.676C>G (p.Pro226Ala) c.559C>G (p.Pro187Ala) | |
8 | g.27463290G= | CA1772813811 | CHRNA2 | c.1153C= (p.Pro385=) c.1108C= (p.Pro370=) n.290-1536C= c.1087C= (p.Pro363=) c.*555C= (n.*555C=) c.676C= (p.Pro226=) c.559C= (p.Pro187=) | |
8 | g.27463290G>T | CA4689515 | CHRNA2 | c.1153C>A (p.Pro385Thr) c.1108C>A (p.Pro370Thr) n.290-1536C>A c.1087C>A (p.Pro363Thr) c.*555C>A (n.*555C>A) c.676C>A (p.Pro226Thr) c.559C>A (p.Pro187Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463290_27463291delinsGT | CA1772813812 | CHRNA2 | c.1152_1153delinsAC (p.Pro384=) c.1107_1108delinsAC (p.Pro369=) n.290-1537_290-1536delinsAC c.1086_1087delinsAC (p.Pro362=) c.*554_*555delinsAC (n.*554_*555delinsAC) c.675_676delinsAC (p.Pro225=) c.558_559delinsAC (p.Pro186=) | |
8 | g.27463291del | CA1139660411 | CHRNA2 | c.1152del (p.Pro385HisfsTer11) c.1107del (p.Pro370HisfsTer11) n.290-1537del c.1086del (p.Pro363HisfsTer11) c.*554del (n.*554del) c.675del (p.Pro226HisfsTer11) c.558del (p.Pro187HisfsTer11) | ClinVar dbSNP gnomAD v4 |
8 | g.27463291T>A | CA460186388 | CHRNA2 | c.1152A>T (p.Pro384=) c.1107A>T (p.Pro369=) n.290-1537A>T c.1086A>T (p.Pro362=) c.*554A>T (n.*554A>T) c.675A>T (p.Pro225=) c.558A>T (p.Pro186=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463291T>C | CA460186390 | CHRNA2 | c.1152A>G (p.Pro384=) c.1107A>G (p.Pro369=) n.290-1537A>G c.1086A>G (p.Pro362=) c.*554A>G (n.*554A>G) c.675A>G (p.Pro225=) c.558A>G (p.Pro186=) | |
8 | g.27463291T>G | CA460186392 | CHRNA2 | c.1152A>C (p.Pro384=) c.1107A>C (p.Pro369=) n.290-1537A>C c.1086A>C (p.Pro362=) c.*554A>C (n.*554A>C) c.675A>C (p.Pro225=) c.558A>C (p.Pro186=) | dbSNP |
8 | g.27463291T= | CA1772813817 | CHRNA2 | c.1152A= (p.Pro384=) c.1107A= (p.Pro369=) n.290-1537A= c.1086A= (p.Pro362=) c.*554A= (n.*554A=) c.675A= (p.Pro225=) c.558A= (p.Pro186=) | |
8 | g.27463292G>A | CA4689516 | CHRNA2 | c.1151C>T (p.Pro384Leu) c.1106C>T (p.Pro369Leu) n.290-1538C>T c.1085C>T (p.Pro362Leu) c.*553C>T (n.*553C>T) c.674C>T (p.Pro225Leu) c.557C>T (p.Pro186Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463292G>C | CA370809343 | CHRNA2 | c.1151C>G (p.Pro384Arg) c.1106C>G (p.Pro369Arg) n.290-1538C>G c.1085C>G (p.Pro362Arg) c.*553C>G (n.*553C>G) c.674C>G (p.Pro225Arg) c.557C>G (p.Pro186Arg) | |
8 | g.27463292G= | CA1772813822 | CHRNA2 | c.1151C= (p.Pro384=) c.1106C= (p.Pro369=) n.290-1538C= c.1085C= (p.Pro362=) c.*553C= (n.*553C=) c.674C= (p.Pro225=) c.557C= (p.Pro186=) | |
8 | g.27463292G>T | CA370809344 | CHRNA2 | c.1151C>A (p.Pro384Gln) c.1106C>A (p.Pro369Gln) n.290-1538C>A c.1085C>A (p.Pro362Gln) c.*553C>A (n.*553C>A) c.674C>A (p.Pro225Gln) c.557C>A (p.Pro186Gln) | |
8 | g.27463296dup | CA2779502046 | CHRNA2 | c.1151dup (p.Pro385ThrfsTer?) c.1106dup (p.Pro370ThrfsTer?) n.290-1538dup c.1085dup (p.Pro363ThrfsTer?) c.*553dup (n.*553dup) c.674dup (p.Pro226ThrfsTer?) c.557dup (p.Pro187ThrfsTer?) | |
8 | g.27463293G>A | CA370809347 | CHRNA2 | c.1150C>T (p.Pro384Ser) c.1105C>T (p.Pro369Ser) n.290-1539C>T c.1084C>T (p.Pro362Ser) c.*552C>T (n.*552C>T) c.673C>T (p.Pro225Ser) c.556C>T (p.Pro186Ser) | |
8 | g.27463293G>C | CA370809345 | CHRNA2 | c.1150C>G (p.Pro384Ala) c.1105C>G (p.Pro369Ala) n.290-1539C>G c.1084C>G (p.Pro362Ala) c.*552C>G (n.*552C>G) c.673C>G (p.Pro225Ala) c.556C>G (p.Pro186Ala) | |
8 | g.27463293G>T | CA370809346 | CHRNA2 | c.1150C>A (p.Pro384Thr) c.1105C>A (p.Pro369Thr) n.290-1539C>A c.1084C>A (p.Pro362Thr) c.*552C>A (n.*552C>A) c.673C>A (p.Pro225Thr) c.556C>A (p.Pro186Thr) | |
8 | g.27463294G>A | CA4689517 | CHRNA2 | c.1149C>T (p.Pro383=) c.1104C>T (p.Pro368=) n.290-1540C>T c.1083C>T (p.Pro361=) c.*551C>T (n.*551C>T) c.672C>T (p.Pro224=) c.555C>T (p.Pro185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463294G>C | CA460186400 | CHRNA2 | c.1149C>G (p.Pro383=) c.1104C>G (p.Pro368=) n.290-1540C>G c.1083C>G (p.Pro361=) c.*551C>G (n.*551C>G) c.672C>G (p.Pro224=) c.555C>G (p.Pro185=) | |
8 | g.27463294G= | CA1772813827 | CHRNA2 | c.1149C= (p.Pro383=) c.1104C= (p.Pro368=) n.290-1540C= c.1083C= (p.Pro361=) c.*551C= (n.*551C=) c.672C= (p.Pro224=) c.555C= (p.Pro185=) | |
8 | g.27463294G>T | CA460186401 | CHRNA2 | c.1149C>A (p.Pro383=) c.1104C>A (p.Pro368=) n.290-1540C>A c.1083C>A (p.Pro361=) c.*551C>A (n.*551C>A) c.672C>A (p.Pro224=) c.555C>A (p.Pro185=) | |
8 | g.27463295G>A | CA313464 | CHRNA2 | c.1148C>T (p.Pro383Leu) c.1103C>T (p.Pro368Leu) n.290-1541C>T c.1082C>T (p.Pro361Leu) c.*550C>T (n.*550C>T) c.671C>T (p.Pro224Leu) c.554C>T (p.Pro185Leu) | ClinVar dbSNP |
8 | g.27463295G>C | CA370809350 | CHRNA2 | c.1148C>G (p.Pro383Arg) c.1103C>G (p.Pro368Arg) n.290-1541C>G c.1082C>G (p.Pro361Arg) c.*550C>G (n.*550C>G) c.671C>G (p.Pro224Arg) c.554C>G (p.Pro185Arg) | |
8 | g.27463295G= | CA1772813832 | CHRNA2 | c.1148C= (p.Pro383=) c.1103C= (p.Pro368=) n.290-1541C= c.1082C= (p.Pro361=) c.*550C= (n.*550C=) c.671C= (p.Pro224=) c.554C= (p.Pro185=) | |
8 | g.27463295G>T | CA370809351 | CHRNA2 | c.1148C>A (p.Pro383His) c.1103C>A (p.Pro368His) n.290-1541C>A c.1082C>A (p.Pro361His) c.*550C>A (n.*550C>A) c.671C>A (p.Pro224His) c.554C>A (p.Pro185His) | |
8 | g.27463296G>A | CA370809353 | CHRNA2 | c.1147C>T (p.Pro383Ser) c.1102C>T (p.Pro368Ser) n.290-1542C>T c.1081C>T (p.Pro361Ser) c.*549C>T (n.*549C>T) c.670C>T (p.Pro224Ser) c.553C>T (p.Pro185Ser) | COSMIC |
8 | g.27463296G>C | CA370809354 | CHRNA2 | c.1147C>G (p.Pro383Ala) c.1102C>G (p.Pro368Ala) n.290-1542C>G c.1081C>G (p.Pro361Ala) c.*549C>G (n.*549C>G) c.670C>G (p.Pro224Ala) c.553C>G (p.Pro185Ala) | gnomAD v4 |
8 | g.27463296G= | CA1772813839 | CHRNA2 | c.1147C= (p.Pro383=) c.1102C= (p.Pro368=) n.290-1542C= c.1081C= (p.Pro361=) c.*549C= (n.*549C=) c.670C= (p.Pro224=) c.553C= (p.Pro185=) | |
8 | g.27463296G>T | CA4689518 | CHRNA2 | c.1147C>A (p.Pro383Thr) c.1102C>A (p.Pro368Thr) n.290-1542C>A c.1081C>A (p.Pro361Thr) c.*549C>A (n.*549C>A) c.670C>A (p.Pro224Thr) c.553C>A (p.Pro185Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463296_27463314delinsGCCGGTTCATCAGAAGCCA | CA1772813842 | CHRNA2 | c.1129_1147delinsTGGCTTCTGATGAACCGGC (p.Trp377=) c.1084_1102delinsTGGCTTCTGATGAACCGGC (p.Trp362=) n.290-1560_290-1542delinsTGGCTTCTGATGAACCGGC c.1063_1081delinsTGGCTTCTGATGAACCGGC (p.Trp355=) c.*531_*549delinsTGGCTTCTGATGAACCGGC (n.*531_*549delinsTGGCTTCTGATGAACCGGC) c.652_670delinsTGGCTTCTGATGAACCGGC (p.Trp218=) c.535_553delinsTGGCTTCTGATGAACCGGC (p.Trp179=) | |
8 | g.27463297C>A | CA460186405 | CHRNA2 | c.1146G>T (p.Arg382=) c.1101G>T (p.Arg367=) n.290-1543G>T c.1080G>T (p.Arg360=) c.*548G>T (n.*548G>T) c.669G>T (p.Arg223=) c.552G>T (p.Arg184=) | |
8 | g.27463297C= | CA1772813846 | CHRNA2 | c.1146G= (p.Arg382=) c.1101G= (p.Arg367=) n.290-1543G= c.1080G= (p.Arg360=) c.*548G= (n.*548G=) c.669G= (p.Arg223=) c.552G= (p.Arg184=) | |
8 | g.27463297C>G | CA460186408 | CHRNA2 | c.1146G>C (p.Arg382=) c.1101G>C (p.Arg367=) n.290-1543G>C c.1080G>C (p.Arg360=) c.*548G>C (n.*548G>C) c.669G>C (p.Arg223=) c.552G>C (p.Arg184=) | |
8 | g.27463297C>T | CA460186409 | CHRNA2 | c.1146G>A (p.Arg382=) c.1101G>A (p.Arg367=) n.290-1543G>A c.1080G>A (p.Arg360=) c.*548G>A (n.*548G>A) c.669G>A (p.Arg223=) c.552G>A (p.Arg184=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463301_27463318del | CA580954955 | CHRNA2 | c.1129_1146del (p.Trp377_Arg382del) c.1084_1101del (p.Trp362_Arg367del) n.290-1560_290-1543del c.1063_1080del (p.Trp355_Arg360del) c.*531_*548del (n.*531_*548del) c.652_669del (p.Trp218_Arg223del) c.535_552del (p.Trp179_Arg184del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463298C>A | CA370809356 | CHRNA2 | c.1145G>T (p.Arg382Leu) c.1100G>T (p.Arg367Leu) n.290-1544G>T c.1079G>T (p.Arg360Leu) c.*547G>T (n.*547G>T) c.668G>T (p.Arg223Leu) c.551G>T (p.Arg184Leu) | |
8 | g.27463298C= | CA1772813850 | CHRNA2 | c.1145G= (p.Arg382=) c.1100G= (p.Arg367=) n.290-1544G= c.1079G= (p.Arg360=) c.*547G= (n.*547G=) c.668G= (p.Arg223=) c.551G= (p.Arg184=) | |
8 | g.27463298C>G | CA370809358 | CHRNA2 | c.1145G>C (p.Arg382Pro) c.1100G>C (p.Arg367Pro) n.290-1544G>C c.1079G>C (p.Arg360Pro) c.*547G>C (n.*547G>C) c.668G>C (p.Arg223Pro) c.551G>C (p.Arg184Pro) | |
8 | g.27463298C>T | CA174241513 | CHRNA2 | c.1145G>A (p.Arg382Gln) c.1100G>A (p.Arg367Gln) n.290-1544G>A c.1079G>A (p.Arg360Gln) c.*547G>A (n.*547G>A) c.668G>A (p.Arg223Gln) c.551G>A (p.Arg184Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463299_27463306dup | CA2697549785 | CHRNA2 | c.1138_1145dup (p.Pro383Ter) c.1093_1100dup (p.Pro368Ter) n.290-1551_290-1544dup c.1072_1079dup (p.Pro361Ter) c.*540_*547dup (n.*540_*547dup) c.661_668dup (p.Pro224Ter) c.544_551dup (p.Pro185Ter) | ClinVar |
8 | g.27463299G>A | CA4689519 | CHRNA2 | c.1144C>T (p.Arg382Trp) c.1099C>T (p.Arg367Trp) n.290-1545C>T c.1078C>T (p.Arg360Trp) c.*546C>T (n.*546C>T) c.667C>T (p.Arg223Trp) c.550C>T (p.Arg184Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.27463299G>C | CA370809360 | CHRNA2 | c.1144C>G (p.Arg382Gly) c.1099C>G (p.Arg367Gly) n.290-1545C>G c.1078C>G (p.Arg360Gly) c.*546C>G (n.*546C>G) c.667C>G (p.Arg223Gly) c.550C>G (p.Arg184Gly) | |
8 | g.27463299G= | CA1772813854 | CHRNA2 | c.1144C= (p.Arg382=) c.1099C= (p.Arg367=) n.290-1545C= c.1078C= (p.Arg360=) c.*546C= (n.*546C=) c.667C= (p.Arg223=) c.550C= (p.Arg184=) | |
8 | g.27463299G>T | CA460186415 | CHRNA2 | c.1144C>A (p.Arg382=) c.1099C>A (p.Arg367=) n.290-1545C>A c.1078C>A (p.Arg360=) c.*546C>A (n.*546C>A) c.667C>A (p.Arg223=) c.550C>A (p.Arg184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463300G>A | CA460186416 | CHRNA2 | c.1143C>T (p.Asn381=) c.1098C>T (p.Asn366=) n.290-1546C>T c.1077C>T (p.Asn359=) c.*545C>T (n.*545C>T) c.666C>T (p.Asn222=) c.549C>T (p.Asn183=) | |
8 | g.27463300G>C | CA370809362 | CHRNA2 | c.1143C>G (p.Asn381Lys) c.1098C>G (p.Asn366Lys) n.290-1546C>G c.1077C>G (p.Asn359Lys) c.*545C>G (n.*545C>G) c.666C>G (p.Asn222Lys) c.549C>G (p.Asn183Lys) | |
8 | g.27463300G>T | CA370809363 | CHRNA2 | c.1143C>A (p.Asn381Lys) c.1098C>A (p.Asn366Lys) n.290-1546C>A c.1077C>A (p.Asn359Lys) c.*545C>A (n.*545C>A) c.666C>A (p.Asn222Lys) c.549C>A (p.Asn183Lys) | |
8 | g.27463301T>A | CA370809367 | CHRNA2 | c.1142A>T (p.Asn381Ile) c.1097A>T (p.Asn366Ile) n.290-1547A>T c.1076A>T (p.Asn359Ile) c.*544A>T (n.*544A>T) c.665A>T (p.Asn222Ile) c.548A>T (p.Asn183Ile) | |
8 | g.27463301T>C | CA4689520 | CHRNA2 | c.1142A>G (p.Asn381Ser) c.1097A>G (p.Asn366Ser) n.290-1547A>G c.1076A>G (p.Asn359Ser) c.*544A>G (n.*544A>G) c.665A>G (p.Asn222Ser) c.548A>G (p.Asn183Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463301T>G | CA370809366 | CHRNA2 | c.1142A>C (p.Asn381Thr) c.1097A>C (p.Asn366Thr) n.290-1547A>C c.1076A>C (p.Asn359Thr) c.*544A>C (n.*544A>C) c.665A>C (p.Asn222Thr) c.548A>C (p.Asn183Thr) | |
8 | g.27463301T= | CA1772813863 | CHRNA2 | c.1142A= (p.Asn381=) c.1097A= (p.Asn366=) n.290-1547A= c.1076A= (p.Asn359=) c.*544A= (n.*544A=) c.665A= (p.Asn222=) c.548A= (p.Asn183=) | |
8 | g.27463302T>A | CA370809369 | CHRNA2 | c.1141A>T (p.Asn381Tyr) c.1096A>T (p.Asn366Tyr) n.290-1548A>T c.1075A>T (p.Asn359Tyr) c.*543A>T (n.*543A>T) c.664A>T (p.Asn222Tyr) c.547A>T (p.Asn183Tyr) | |
8 | g.27463302T>C | CA370809371 | CHRNA2 | c.1141A>G (p.Asn381Asp) c.1096A>G (p.Asn366Asp) n.290-1548A>G c.1075A>G (p.Asn359Asp) c.*543A>G (n.*543A>G) c.664A>G (p.Asn222Asp) c.547A>G (p.Asn183Asp) | gnomAD v4 |
8 | g.27463302T>G | CA370809372 | CHRNA2 | c.1141A>C (p.Asn381His) c.1096A>C (p.Asn366His) n.290-1548A>C c.1075A>C (p.Asn359His) c.*543A>C (n.*543A>C) c.664A>C (p.Asn222His) c.547A>C (p.Asn183His) | |
8 | g.27463303C>A | CA370809374 | CHRNA2 | c.1140G>T (p.Met380Ile) c.1095G>T (p.Met365Ile) n.290-1549G>T c.1074G>T (p.Met358Ile) c.*542G>T (n.*542G>T) c.663G>T (p.Met221Ile) c.546G>T (p.Met182Ile) | |
8 | g.27463303C>G | CA370809375 | CHRNA2 | c.1140G>C (p.Met380Ile) c.1095G>C (p.Met365Ile) n.290-1549G>C c.1074G>C (p.Met358Ile) c.*542G>C (n.*542G>C) c.663G>C (p.Met221Ile) c.546G>C (p.Met182Ile) | |
8 | g.27463303C>T | CA370809376 | CHRNA2 | c.1140G>A (p.Met380Ile) c.1095G>A (p.Met365Ile) n.290-1549G>A c.1074G>A (p.Met358Ile) c.*542G>A (n.*542G>A) c.663G>A (p.Met221Ile) c.546G>A (p.Met182Ile) | |
8 | g.27463304A= | CA1772813866 | CHRNA2 | c.1139T= (p.Met380=) c.1094T= (p.Met365=) n.290-1550T= c.1073T= (p.Met358=) c.*541T= (n.*541T=) c.662T= (p.Met221=) c.545T= (p.Met182=) | |
8 | g.27463304A>C | CA370809378 | CHRNA2 | c.1139T>G (p.Met380Arg) c.1094T>G (p.Met365Arg) n.290-1550T>G c.1073T>G (p.Met358Arg) c.*541T>G (n.*541T>G) c.662T>G (p.Met221Arg) c.545T>G (p.Met182Arg) | |
8 | g.27463304A>G | CA4689521 | CHRNA2 | c.1139T>C (p.Met380Thr) c.1094T>C (p.Met365Thr) n.290-1550T>C c.1073T>C (p.Met358Thr) c.*541T>C (n.*541T>C) c.662T>C (p.Met221Thr) c.545T>C (p.Met182Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463304A>T | CA370809380 | CHRNA2 | c.1139T>A (p.Met380Lys) c.1094T>A (p.Met365Lys) n.290-1550T>A c.1073T>A (p.Met358Lys) c.*541T>A (n.*541T>A) c.662T>A (p.Met221Lys) c.545T>A (p.Met182Lys) | |
8 | g.27463305T>A | CA370809382 | CHRNA2 | c.1138A>T (p.Met380Leu) c.1093A>T (p.Met365Leu) n.290-1551A>T c.1072A>T (p.Met358Leu) c.*540A>T (n.*540A>T) c.661A>T (p.Met221Leu) c.544A>T (p.Met182Leu) | |
8 | g.27463305T>C | CA370809383 | CHRNA2 | c.1138A>G (p.Met380Val) c.1093A>G (p.Met365Val) n.290-1551A>G c.1072A>G (p.Met358Val) c.*540A>G (n.*540A>G) c.661A>G (p.Met221Val) c.544A>G (p.Met182Val) | |
8 | g.27463305T>G | CA370809385 | CHRNA2 | c.1138A>C (p.Met380Leu) c.1093A>C (p.Met365Leu) n.290-1551A>C c.1072A>C (p.Met358Leu) c.*540A>C (n.*540A>C) c.661A>C (p.Met221Leu) c.544A>C (p.Met182Leu) | |
8 | g.27463306C>A | CA460186433 | CHRNA2 | c.1137G>T (p.Leu379=) c.1092G>T (p.Leu364=) n.290-1552G>T c.1071G>T (p.Leu357=) c.*539G>T (n.*539G>T) c.660G>T (p.Leu220=) c.543G>T (p.Leu181=) | |
8 | g.27463306C>G | CA460186430 | CHRNA2 | c.1137G>C (p.Leu379=) c.1092G>C (p.Leu364=) n.290-1552G>C c.1071G>C (p.Leu357=) c.*539G>C (n.*539G>C) c.660G>C (p.Leu220=) c.543G>C (p.Leu181=) | gnomAD v4 |
8 | g.27463306C>T | CA460186431 | CHRNA2 | c.1137G>A (p.Leu379=) c.1092G>A (p.Leu364=) n.290-1552G>A c.1071G>A (p.Leu357=) c.*539G>A (n.*539G>A) c.660G>A (p.Leu220=) c.543G>A (p.Leu181=) | gnomAD v4 COSMIC |
8 | g.27463307A>C | CA370809386 | CHRNA2 | c.1136T>G (p.Leu379Arg) c.1091T>G (p.Leu364Arg) n.290-1553T>G c.1070T>G (p.Leu357Arg) c.*538T>G (n.*538T>G) c.659T>G (p.Leu220Arg) c.542T>G (p.Leu181Arg) | |
8 | g.27463307A>G | CA370809389 | CHRNA2 | c.1136T>C (p.Leu379Pro) c.1091T>C (p.Leu364Pro) n.290-1553T>C c.1070T>C (p.Leu357Pro) c.*538T>C (n.*538T>C) c.659T>C (p.Leu220Pro) c.542T>C (p.Leu181Pro) | |
8 | g.27463307A>T | CA370809388 | CHRNA2 | c.1136T>A (p.Leu379Gln) c.1091T>A (p.Leu364Gln) n.290-1553T>A c.1070T>A (p.Leu357Gln) c.*538T>A (n.*538T>A) c.659T>A (p.Leu220Gln) c.542T>A (p.Leu181Gln) | |
8 | g.27463308G>A | CA460186440 | CHRNA2 | c.1135C>T (p.Leu379=) c.1090C>T (p.Leu364=) n.290-1554C>T c.1069C>T (p.Leu357=) c.*537C>T (n.*537C>T) c.658C>T (p.Leu220=) c.541C>T (p.Leu181=) | |
8 | g.27463308G>C | CA370809391 | CHRNA2 | c.1135C>G (p.Leu379Val) c.1090C>G (p.Leu364Val) n.290-1554C>G c.1069C>G (p.Leu357Val) c.*537C>G (n.*537C>G) c.658C>G (p.Leu220Val) c.541C>G (p.Leu181Val) | |
8 | g.27463308G>T | CA370809392 | CHRNA2 | c.1135C>A (p.Leu379Met) c.1090C>A (p.Leu364Met) n.290-1554C>A c.1069C>A (p.Leu357Met) c.*537C>A (n.*537C>A) c.658C>A (p.Leu220Met) c.541C>A (p.Leu181Met) | |
8 | g.27463309A>C | CA460186441 | CHRNA2 | c.1134T>G (p.Leu378=) c.1089T>G (p.Leu363=) n.290-1555T>G c.1068T>G (p.Leu356=) c.*536T>G (n.*536T>G) c.657T>G (p.Leu219=) c.540T>G (p.Leu180=) | |
8 | g.27463309A>G | CA460186442 | CHRNA2 | c.1134T>C (p.Leu378=) c.1089T>C (p.Leu363=) n.290-1555T>C c.1068T>C (p.Leu356=) c.*536T>C (n.*536T>C) c.657T>C (p.Leu219=) c.540T>C (p.Leu180=) | |
8 | g.27463309A>T | CA460186443 | CHRNA2 | c.1134T>A (p.Leu378=) c.1089T>A (p.Leu363=) n.290-1555T>A c.1068T>A (p.Leu356=) c.*536T>A (n.*536T>A) c.657T>A (p.Leu219=) c.540T>A (p.Leu180=) | |
8 | g.27463310A>C | CA370809394 | CHRNA2 | c.1133T>G (p.Leu378Arg) c.1088T>G (p.Leu363Arg) n.290-1556T>G c.1067T>G (p.Leu356Arg) c.*535T>G (n.*535T>G) c.656T>G (p.Leu219Arg) c.539T>G (p.Leu180Arg) | |
8 | g.27463310A>G | CA370809395 | CHRNA2 | c.1133T>C (p.Leu378Pro) c.1088T>C (p.Leu363Pro) n.290-1556T>C c.1067T>C (p.Leu356Pro) c.*535T>C (n.*535T>C) c.656T>C (p.Leu219Pro) c.539T>C (p.Leu180Pro) | |
8 | g.27463310A>T | CA370809397 | CHRNA2 | c.1133T>A (p.Leu378His) c.1088T>A (p.Leu363His) n.290-1556T>A c.1067T>A (p.Leu356His) c.*535T>A (n.*535T>A) c.656T>A (p.Leu219His) c.539T>A (p.Leu180His) | |
8 | g.27463311G>A | CA370809398 | CHRNA2 | c.1132C>T (p.Leu378Phe) c.1087C>T (p.Leu363Phe) n.290-1557C>T c.1066C>T (p.Leu356Phe) c.*534C>T (n.*534C>T) c.655C>T (p.Leu219Phe) c.538C>T (p.Leu180Phe) | |
8 | g.27463311G>C | CA370809399 | CHRNA2 | c.1132C>G (p.Leu378Val) c.1087C>G (p.Leu363Val) n.290-1557C>G c.1066C>G (p.Leu356Val) c.*534C>G (n.*534C>G) c.655C>G (p.Leu219Val) c.538C>G (p.Leu180Val) | |
8 | g.27463311G>T | CA370809400 | CHRNA2 | c.1132C>A (p.Leu378Ile) c.1087C>A (p.Leu363Ile) n.290-1557C>A c.1066C>A (p.Leu356Ile) c.*534C>A (n.*534C>A) c.655C>A (p.Leu219Ile) c.538C>A (p.Leu180Ile) | |
8 | g.27463312C>A | CA370809402 | CHRNA2 | c.1131G>T (p.Trp377Cys) c.1086G>T (p.Trp362Cys) n.290-1558G>T c.1065G>T (p.Trp355Cys) c.*533G>T (n.*533G>T) c.654G>T (p.Trp218Cys) c.537G>T (p.Trp179Cys) | |
8 | g.27463312C>G | CA370809403 | CHRNA2 | c.1131G>C (p.Trp377Cys) c.1086G>C (p.Trp362Cys) n.290-1558G>C c.1065G>C (p.Trp355Cys) c.*533G>C (n.*533G>C) c.654G>C (p.Trp218Cys) c.537G>C (p.Trp179Cys) | |
8 | g.27463312C>T | CA370809405 | CHRNA2 | c.1131G>A (p.Trp377Ter) c.1086G>A (p.Trp362Ter) n.290-1558G>A c.1065G>A (p.Trp355Ter) c.*533G>A (n.*533G>A) c.654G>A (p.Trp218Ter) c.537G>A (p.Trp179Ter) | ClinVar |
8 | g.27463313C>A | CA370809406 | CHRNA2 | c.1130G>T (p.Trp377Leu) c.1085G>T (p.Trp362Leu) n.290-1559G>T c.1064G>T (p.Trp355Leu) c.*532G>T (n.*532G>T) c.653G>T (p.Trp218Leu) c.536G>T (p.Trp179Leu) | |
8 | g.27463313C>G | CA370809408 | CHRNA2 | c.1130G>C (p.Trp377Ser) c.1085G>C (p.Trp362Ser) n.290-1559G>C c.1064G>C (p.Trp355Ser) c.*532G>C (n.*532G>C) c.653G>C (p.Trp218Ser) c.536G>C (p.Trp179Ser) | |
8 | g.27463313C>T | CA370809409 | CHRNA2 | c.1130G>A (p.Trp377Ter) c.1085G>A (p.Trp362Ter) n.290-1559G>A c.1064G>A (p.Trp355Ter) c.*532G>A (n.*532G>A) c.653G>A (p.Trp218Ter) c.536G>A (p.Trp179Ter) | |
8 | g.27463314A>C | CA370809413 | CHRNA2 | c.1129T>G (p.Trp377Gly) c.1084T>G (p.Trp362Gly) n.290-1560T>G c.1063T>G (p.Trp355Gly) c.*531T>G (n.*531T>G) c.652T>G (p.Trp218Gly) c.535T>G (p.Trp179Gly) | |
8 | g.27463314A>G | CA370809410 | CHRNA2 | c.1129T>C (p.Trp377Arg) c.1084T>C (p.Trp362Arg) n.290-1560T>C c.1063T>C (p.Trp355Arg) c.*531T>C (n.*531T>C) c.652T>C (p.Trp218Arg) c.535T>C (p.Trp179Arg) | |
8 | g.27463314A>T | CA370809412 | CHRNA2 | c.1129T>A (p.Trp377Arg) c.1084T>A (p.Trp362Arg) n.290-1560T>A c.1063T>A (p.Trp355Arg) c.*531T>A (n.*531T>A) c.652T>A (p.Trp218Arg) c.535T>A (p.Trp179Arg) | |
8 | g.27463315C>A | CA460186452 | CHRNA2 | c.1128G>T (p.Arg376=) c.1083G>T (p.Arg361=) n.290-1561G>T c.1062G>T (p.Arg354=) c.*530G>T (n.*530G>T) c.651G>T (p.Arg217=) c.534G>T (p.Arg178=) | |
8 | g.27463315C>G | CA460186455 | CHRNA2 | c.1128G>C (p.Arg376=) c.1083G>C (p.Arg361=) n.290-1561G>C c.1062G>C (p.Arg354=) c.*530G>C (n.*530G>C) c.651G>C (p.Arg217=) c.534G>C (p.Arg178=) | gnomAD v4 |
8 | g.27463315C>T | CA460186457 | CHRNA2 | c.1128G>A (p.Arg376=) c.1083G>A (p.Arg361=) n.290-1561G>A c.1062G>A (p.Arg354=) c.*530G>A (n.*530G>A) c.651G>A (p.Arg217=) c.534G>A (p.Arg178=) | |
8 | g.27463316C>A | CA370809415 | CHRNA2 | c.1127G>T (p.Arg376Leu) c.1082G>T (p.Arg361Leu) n.290-1562G>T c.1061G>T (p.Arg354Leu) c.*529G>T (n.*529G>T) c.650G>T (p.Arg217Leu) c.533G>T (p.Arg178Leu) | dbSNP |
8 | g.27463316C= | CA1772813872 | CHRNA2 | c.1127G= (p.Arg376=) c.1082G= (p.Arg361=) n.290-1562G= c.1061G= (p.Arg354=) c.*529G= (n.*529G=) c.650G= (p.Arg217=) c.533G= (p.Arg178=) | |
8 | g.27463316C>G | CA370809416 | CHRNA2 | c.1127G>C (p.Arg376Pro) c.1082G>C (p.Arg361Pro) n.290-1562G>C c.1061G>C (p.Arg354Pro) c.*529G>C (n.*529G>C) c.650G>C (p.Arg217Pro) c.533G>C (p.Arg178Pro) | dbSNP gnomAD v4 |
8 | g.27463316C>T | CA4689522 | CHRNA2 | c.1127G>A (p.Arg376Gln) c.1082G>A (p.Arg361Gln) n.290-1562G>A c.1061G>A (p.Arg354Gln) c.*529G>A (n.*529G>A) c.650G>A (p.Arg217Gln) c.533G>A (p.Arg178Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463316_27463317delinsCG | CA1772813870 | CHRNA2 | c.1126_1127delinsCG (p.Arg376=) c.1081_1082delinsCG (p.Arg361=) n.290-1563_290-1562delinsCG c.1060_1061delinsCG (p.Arg354=) c.*528_*529delinsCG (n.*528_*529delinsCG) c.649_650delinsCG (p.Arg217=) c.532_533delinsCG (p.Arg178=) | |
8 | g.27463317G>A | CA174241544 | CHRNA2 | c.1126C>T (p.Arg376Trp) c.1081C>T (p.Arg361Trp) n.290-1563C>T c.1060C>T (p.Arg354Trp) c.*528C>T (n.*528C>T) c.649C>T (p.Arg217Trp) c.532C>T (p.Arg178Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463317G>C | CA370809419 | CHRNA2 | c.1126C>G (p.Arg376Gly) c.1081C>G (p.Arg361Gly) n.290-1563C>G c.1060C>G (p.Arg354Gly) c.*528C>G (n.*528C>G) c.649C>G (p.Arg217Gly) c.532C>G (p.Arg178Gly) | dbSNP |
8 | g.27463317G= | CA1772813878 | CHRNA2 | c.1126C= (p.Arg376=) c.1081C= (p.Arg361=) n.290-1563C= c.1060C= (p.Arg354=) c.*528C= (n.*528C=) c.649C= (p.Arg217=) c.532C= (p.Arg178=) | |
8 | g.27463317G>T | CA460186463 | CHRNA2 | c.1126C>A (p.Arg376=) c.1081C>A (p.Arg361=) n.290-1563C>A c.1060C>A (p.Arg354=) c.*528C>A (n.*528C>A) c.649C>A (p.Arg217=) c.532C>A (p.Arg178=) | gnomAD v4 |
8 | g.27463320del | CA1772813877 | CHRNA2 | c.1126del (p.Arg376GlyfsTer4) c.1081del (p.Arg361GlyfsTer4) n.290-1563del c.1060del (p.Arg354GlyfsTer4) c.*528del (n.*528del) c.649del (p.Arg217GlyfsTer4) c.532del (p.Arg178GlyfsTer4) | dbSNP |
8 | g.27463318G>A | CA460186465 | CHRNA2 | c.1125C>T (p.Pro375=) c.1080C>T (p.Pro360=) n.290-1564C>T c.1059C>T (p.Pro353=) c.*527C>T (n.*527C>T) c.648C>T (p.Pro216=) c.531C>T (p.Pro177=) | COSMIC |
8 | g.27463318G>C | CA460186466 | CHRNA2 | c.1125C>G (p.Pro375=) c.1080C>G (p.Pro360=) n.290-1564C>G c.1059C>G (p.Pro353=) c.*527C>G (n.*527C>G) c.648C>G (p.Pro216=) c.531C>G (p.Pro177=) | |
8 | g.27463318G>T | CA460186467 | CHRNA2 | c.1125C>A (p.Pro375=) c.1080C>A (p.Pro360=) n.290-1564C>A c.1059C>A (p.Pro353=) c.*527C>A (n.*527C>A) c.648C>A (p.Pro216=) c.531C>A (p.Pro177=) | |
8 | g.27463319G>A | CA370809420 | CHRNA2 | c.1124C>T (p.Pro375Leu) c.1079C>T (p.Pro360Leu) n.290-1565C>T c.1058C>T (p.Pro353Leu) c.*526C>T (n.*526C>T) c.647C>T (p.Pro216Leu) c.530C>T (p.Pro177Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.27463319G>C | CA370809422 | CHRNA2 | c.1124C>G (p.Pro375Arg) c.1079C>G (p.Pro360Arg) n.290-1565C>G c.1058C>G (p.Pro353Arg) c.*526C>G (n.*526C>G) c.647C>G (p.Pro216Arg) c.530C>G (p.Pro177Arg) | |
8 | g.27463319G= | CA1772813886 | CHRNA2 | c.1124C= (p.Pro375=) c.1079C= (p.Pro360=) n.290-1565C= c.1058C= (p.Pro353=) c.*526C= (n.*526C=) c.647C= (p.Pro216=) c.530C= (p.Pro177=) | |
8 | g.27463319G>T | CA370809423 | CHRNA2 | c.1124C>A (p.Pro375His) c.1079C>A (p.Pro360His) n.290-1565C>A c.1058C>A (p.Pro353His) c.*526C>A (n.*526C>A) c.647C>A (p.Pro216His) c.530C>A (p.Pro177His) | |
8 | g.27463320G>A | CA370809425 | CHRNA2 | c.1123C>T (p.Pro375Ser) c.1078C>T (p.Pro360Ser) n.290-1566C>T c.1057C>T (p.Pro353Ser) c.*525C>T (n.*525C>T) c.646C>T (p.Pro216Ser) c.529C>T (p.Pro177Ser) | dbSNP gnomAD v4 |
8 | g.27463320G>C | CA313462 | CHRNA2 | c.1123C>G (p.Pro375Ala) c.1078C>G (p.Pro360Ala) n.290-1566C>G c.1057C>G (p.Pro353Ala) c.*525C>G (n.*525C>G) c.646C>G (p.Pro216Ala) c.529C>G (p.Pro177Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463320G= | CA1772813891 | CHRNA2 | c.1123C= (p.Pro375=) c.1078C= (p.Pro360=) n.290-1566C= c.1057C= (p.Pro353=) c.*525C= (n.*525C=) c.646C= (p.Pro216=) c.529C= (p.Pro177=) | |
8 | g.27463320G>T | CA370809426 | CHRNA2 | c.1123C>A (p.Pro375Thr) c.1078C>A (p.Pro360Thr) n.290-1566C>A c.1057C>A (p.Pro353Thr) c.*525C>A (n.*525C>A) c.646C>A (p.Pro216Thr) c.529C>A (p.Pro177Thr) | |
8 | g.27463320_27463321dup | CA2686678225 | CHRNA2 | c.1122_1123dup (p.Pro375ArgfsTer6) c.1077_1078dup (p.Pro360ArgfsTer6) n.290-1567_290-1566dup c.1056_1057dup (p.Pro353ArgfsTer6) c.*524_*525dup (n.*524_*525dup) c.645_646dup (p.Pro216ArgfsTer6) c.528_529dup (p.Pro177ArgfsTer6) | gnomAD v4 |
8 | g.27463321C>A | CA460186472 | CHRNA2 | c.1122G>T (p.Val374=) c.1077G>T (p.Val359=) n.290-1567G>T c.1056G>T (p.Val352=) c.*524G>T (n.*524G>T) c.645G>T (p.Val215=) c.528G>T (p.Val176=) | ClinVar |
8 | g.27463321C>G | CA460186473 | CHRNA2 | c.1122G>C (p.Val374=) c.1077G>C (p.Val359=) n.290-1567G>C c.1056G>C (p.Val352=) c.*524G>C (n.*524G>C) c.645G>C (p.Val215=) c.528G>C (p.Val176=) | |
8 | g.27463321C>T | CA460186475 | CHRNA2 | c.1122G>A (p.Val374=) c.1077G>A (p.Val359=) n.290-1567G>A c.1056G>A (p.Val352=) c.*524G>A (n.*524G>A) c.645G>A (p.Val215=) c.528G>A (p.Val176=) | |
8 | g.27463322A>C | CA370809430 | CHRNA2 | c.1121T>G (p.Val374Gly) c.1076T>G (p.Val359Gly) n.290-1568T>G c.1055T>G (p.Val352Gly) c.*523T>G (n.*523T>G) c.644T>G (p.Val215Gly) c.527T>G (p.Val176Gly) | gnomAD v4 |
8 | g.27463322A>G | CA370809429 | CHRNA2 | c.1121T>C (p.Val374Ala) c.1076T>C (p.Val359Ala) n.290-1568T>C c.1055T>C (p.Val352Ala) c.*523T>C (n.*523T>C) c.644T>C (p.Val215Ala) c.527T>C (p.Val176Ala) | |
8 | g.27463322A>T | CA370809427 | CHRNA2 | c.1121T>A (p.Val374Glu) c.1076T>A (p.Val359Glu) n.290-1568T>A c.1055T>A (p.Val352Glu) c.*523T>A (n.*523T>A) c.644T>A (p.Val215Glu) c.527T>A (p.Val176Glu) | |
8 | g.27463323C>A | CA370809431 | CHRNA2 | c.1120G>T (p.Val374Leu) c.1075G>T (p.Val359Leu) n.290-1569G>T c.1054G>T (p.Val352Leu) c.*522G>T (n.*522G>T) c.643G>T (p.Val215Leu) c.526G>T (p.Val176Leu) | |
8 | g.27463323C= | CA1772813895 | CHRNA2 | c.1120G= (p.Val374=) c.1075G= (p.Val359=) n.290-1569G= c.1054G= (p.Val352=) c.*522G= (n.*522G=) c.643G= (p.Val215=) c.526G= (p.Val176=) | |
8 | g.27463323C>G | CA370809432 | CHRNA2 | c.1120G>C (p.Val374Leu) c.1075G>C (p.Val359Leu) n.290-1569G>C c.1054G>C (p.Val352Leu) c.*522G>C (n.*522G>C) c.643G>C (p.Val215Leu) c.526G>C (p.Val176Leu) | |
8 | g.27463323C>T | CA370809433 | CHRNA2 | c.1120G>A (p.Val374Met) c.1075G>A (p.Val359Met) n.290-1569G>A c.1054G>A (p.Val352Met) c.*522G>A (n.*522G>A) c.643G>A (p.Val215Met) c.526G>A (p.Val176Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463324A>C | CA370809435 | CHRNA2 | c.1119T>G (p.Cys373Trp) c.1074T>G (p.Cys358Trp) n.290-1570T>G c.1053T>G (p.Cys351Trp) c.*521T>G (n.*521T>G) c.642T>G (p.Cys214Trp) c.525T>G (p.Cys175Trp) | |
8 | g.27463324A>G | CA460186477 | CHRNA2 | c.1119T>C (p.Cys373=) c.1074T>C (p.Cys358=) n.290-1570T>C c.1053T>C (p.Cys351=) c.*521T>C (n.*521T>C) c.642T>C (p.Cys214=) c.525T>C (p.Cys175=) | gnomAD v4 |
8 | g.27463324A>T | CA370809436 | CHRNA2 | c.1119T>A (p.Cys373Ter) c.1074T>A (p.Cys358Ter) n.290-1570T>A c.1053T>A (p.Cys351Ter) c.*521T>A (n.*521T>A) c.642T>A (p.Cys214Ter) c.525T>A (p.Cys175Ter) | gnomAD v4 |