Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.27463206T>ACA370809085CHRNA2c.1237A>T (p.Arg413Trp)
c.1192A>T (p.Arg398Trp)
n.290-1452A>T
c.1171A>T (p.Arg391Trp)
c.*639A>T (n.*639A>T)
c.760A>T (p.Arg254Trp)
c.643A>T (p.Arg215Trp)
8g.27463206T>CCA370809086CHRNA2c.1237A>G (p.Arg413Gly)
c.1192A>G (p.Arg398Gly)
n.290-1452A>G
c.1171A>G (p.Arg391Gly)
c.*639A>G (n.*639A>G)
c.760A>G (p.Arg254Gly)
c.643A>G (p.Arg215Gly)
8g.27463206T>GCA460186175CHRNA2c.1237A>C (p.Arg413=)
c.1192A>C (p.Arg398=)
n.290-1452A>C
c.1171A>C (p.Arg391=)
c.*639A>C (n.*639A>C)
c.760A>C (p.Arg254=)
c.643A>C (p.Arg215=)
8g.27463207C>ACA370809087CHRNA2c.1236G>T (p.Glu412Asp)
c.1191G>T (p.Glu397Asp)
n.290-1453G>T
c.1170G>T (p.Glu390Asp)
c.*638G>T (n.*638G>T)
c.759G>T (p.Glu253Asp)
c.642G>T (p.Glu214Asp)
8g.27463207C=CA1772813625CHRNA2c.1236G= (p.Glu412=)
c.1191G= (p.Glu397=)
n.290-1453G=
c.1170G= (p.Glu390=)
c.*638G= (n.*638G=)
c.759G= (p.Glu253=)
c.642G= (p.Glu214=)
8g.27463207C>GCA4689495CHRNA2c.1236G>C (p.Glu412Asp)
c.1191G>C (p.Glu397Asp)
n.290-1453G>C
c.1170G>C (p.Glu390Asp)
c.*638G>C (n.*638G>C)
c.759G>C (p.Glu253Asp)
c.642G>C (p.Glu214Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463207C>TCA4689496CHRNA2c.1236G>A (p.Glu412=)
c.1191G>A (p.Glu397=)
n.290-1453G>A
c.1170G>A (p.Glu390=)
c.*638G>A (n.*638G>A)
c.759G>A (p.Glu253=)
c.642G>A (p.Glu214=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463210_27463212delCA2686678221CHRNA2c.1234_1236del (p.Glu412del)
c.1189_1191del (p.Glu397del)
n.290-1455_290-1453del
c.1168_1170del (p.Glu390del)
c.*636_*638del (n.*636_*638del)
c.757_759del (p.Glu253del)
c.640_642del (p.Glu214del)
gnomAD v4
8g.27463208T>ACA370809088CHRNA2c.1235A>T (p.Glu412Val)
c.1190A>T (p.Glu397Val)
n.290-1454A>T
c.1169A>T (p.Glu390Val)
c.*637A>T (n.*637A>T)
c.758A>T (p.Glu253Val)
c.641A>T (p.Glu214Val)
8g.27463208T>CCA370809089CHRNA2c.1235A>G (p.Glu412Gly)
c.1190A>G (p.Glu397Gly)
n.290-1454A>G
c.1169A>G (p.Glu390Gly)
c.*637A>G (n.*637A>G)
c.758A>G (p.Glu253Gly)
c.641A>G (p.Glu214Gly)
8g.27463208T>GCA370809090CHRNA2c.1235A>C (p.Glu412Ala)
c.1190A>C (p.Glu397Ala)
n.290-1454A>C
c.1169A>C (p.Glu390Ala)
c.*637A>C (n.*637A>C)
c.758A>C (p.Glu253Ala)
c.641A>C (p.Glu214Ala)
dbSNP gnomAD v2 gnomAD v4
8g.27463208T=CA1772813629CHRNA2c.1235A= (p.Glu412=)
c.1190A= (p.Glu397=)
n.290-1454A=
c.1169A= (p.Glu390=)
c.*637A= (n.*637A=)
c.758A= (p.Glu253=)
c.641A= (p.Glu214=)
8g.27463209C>ACA370809091CHRNA2c.1234G>T (p.Glu412Ter)
c.1189G>T (p.Glu397Ter)
n.290-1455G>T
c.1168G>T (p.Glu390Ter)
c.*636G>T (n.*636G>T)
c.757G>T (p.Glu253Ter)
c.640G>T (p.Glu214Ter)
8g.27463209C=CA1772813635CHRNA2c.1234G= (p.Glu412=)
c.1189G= (p.Glu397=)
n.290-1455G=
c.1168G= (p.Glu390=)
c.*636G= (n.*636G=)
c.757G= (p.Glu253=)
c.640G= (p.Glu214=)
8g.27463209C>GCA370809093CHRNA2c.1234G>C (p.Glu412Gln)
c.1189G>C (p.Glu397Gln)
n.290-1455G>C
c.1168G>C (p.Glu390Gln)
c.*636G>C (n.*636G>C)
c.757G>C (p.Glu253Gln)
c.640G>C (p.Glu214Gln)
8g.27463209C>TCA231028CHRNA2c.1234G>A (p.Glu412Lys)
c.1189G>A (p.Glu397Lys)
n.290-1455G>A
c.1168G>A (p.Glu390Lys)
c.*636G>A (n.*636G>A)
c.757G>A (p.Glu253Lys)
c.640G>A (p.Glu214Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463210C>ACA370809095CHRNA2c.1233G>T (p.Glu411Asp)
c.1188G>T (p.Glu396Asp)
n.290-1456G>T
c.1167G>T (p.Glu389Asp)
c.*635G>T (n.*635G>T)
c.756G>T (p.Glu252Asp)
c.639G>T (p.Glu213Asp)
8g.27463210C>GCA370809096CHRNA2c.1233G>C (p.Glu411Asp)
c.1188G>C (p.Glu396Asp)
n.290-1456G>C
c.1167G>C (p.Glu389Asp)
c.*635G>C (n.*635G>C)
c.756G>C (p.Glu252Asp)
c.639G>C (p.Glu213Asp)
8g.27463210C>TCA460186183CHRNA2c.1233G>A (p.Glu411=)
c.1188G>A (p.Glu396=)
n.290-1456G>A
c.1167G>A (p.Glu389=)
c.*635G>A (n.*635G>A)
c.756G>A (p.Glu252=)
c.639G>A (p.Glu213=)
8g.27463210_27463213delCA2579127523CHRNA2c.1230_1233del (p.Glu411ArgfsTer?)
c.1185_1188del (p.Glu396ArgfsTer?)
n.290-1459_290-1456del
c.1164_1167del (p.Glu389ArgfsTer?)
c.*632_*635del (n.*632_*635del)
c.753_756del (p.Glu252ArgfsTer?)
c.636_639del (p.Glu213ArgfsTer?)
8g.27463211T>ACA370809099CHRNA2c.1232A>T (p.Glu411Val)
c.1187A>T (p.Glu396Val)
n.290-1457A>T
c.1166A>T (p.Glu389Val)
c.*634A>T (n.*634A>T)
c.755A>T (p.Glu252Val)
c.638A>T (p.Glu213Val)
8g.27463211T>CCA370809100CHRNA2c.1232A>G (p.Glu411Gly)
c.1187A>G (p.Glu396Gly)
n.290-1457A>G
c.1166A>G (p.Glu389Gly)
c.*634A>G (n.*634A>G)
c.755A>G (p.Glu252Gly)
c.638A>G (p.Glu213Gly)
8g.27463211T>GCA370809097CHRNA2c.1232A>C (p.Glu411Ala)
c.1187A>C (p.Glu396Ala)
n.290-1457A>C
c.1166A>C (p.Glu389Ala)
c.*634A>C (n.*634A>C)
c.755A>C (p.Glu252Ala)
c.638A>C (p.Glu213Ala)
8g.27463212C>ACA370809102CHRNA2c.1231G>T (p.Glu411Ter)
c.1186G>T (p.Glu396Ter)
n.290-1458G>T
c.1165G>T (p.Glu389Ter)
c.*633G>T (n.*633G>T)
c.754G>T (p.Glu252Ter)
c.637G>T (p.Glu213Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463212C=CA1772813641CHRNA2c.1231G= (p.Glu411=)
c.1186G= (p.Glu396=)
n.290-1458G=
c.1165G= (p.Glu389=)
c.*633G= (n.*633G=)
c.754G= (p.Glu252=)
c.637G= (p.Glu213=)
8g.27463212C>GCA370809104CHRNA2c.1231G>C (p.Glu411Gln)
c.1186G>C (p.Glu396Gln)
n.290-1458G>C
c.1165G>C (p.Glu389Gln)
c.*633G>C (n.*633G>C)
c.754G>C (p.Glu252Gln)
c.637G>C (p.Glu213Gln)
8g.27463212C>TCA370809105CHRNA2c.1231G>A (p.Glu411Lys)
c.1186G>A (p.Glu396Lys)
n.290-1458G>A
c.1165G>A (p.Glu389Lys)
c.*633G>A (n.*633G>A)
c.754G>A (p.Glu252Lys)
c.637G>A (p.Glu213Lys)
dbSNP gnomAD v4
8g.27463213G>ACA460186189CHRNA2c.1230C>T (p.Ala410=)
c.1185C>T (p.Ala395=)
n.290-1459C>T
c.1164C>T (p.Ala388=)
c.*632C>T (n.*632C>T)
c.753C>T (p.Ala251=)
c.636C>T (p.Ala212=)
ClinVar gnomAD v4
8g.27463213G>CCA460186191CHRNA2c.1230C>G (p.Ala410=)
c.1185C>G (p.Ala395=)
n.290-1459C>G
c.1164C>G (p.Ala388=)
c.*632C>G (n.*632C>G)
c.753C>G (p.Ala251=)
c.636C>G (p.Ala212=)
gnomAD v4
8g.27463213G>TCA460186192CHRNA2c.1230C>A (p.Ala410=)
c.1185C>A (p.Ala395=)
n.290-1459C>A
c.1164C>A (p.Ala388=)
c.*632C>A (n.*632C>A)
c.753C>A (p.Ala251=)
c.636C>A (p.Ala212=)
8g.27463214G>ACA370809106CHRNA2c.1229C>T (p.Ala410Val)
c.1184C>T (p.Ala395Val)
n.290-1460C>T
c.1163C>T (p.Ala388Val)
c.*631C>T (n.*631C>T)
c.752C>T (p.Ala251Val)
c.635C>T (p.Ala212Val)
ClinVar gnomAD v4
8g.27463214G>CCA370809108CHRNA2c.1229C>G (p.Ala410Gly)
c.1184C>G (p.Ala395Gly)
n.290-1460C>G
c.1163C>G (p.Ala388Gly)
c.*631C>G (n.*631C>G)
c.752C>G (p.Ala251Gly)
c.635C>G (p.Ala212Gly)
8g.27463214G>TCA370809109CHRNA2c.1229C>A (p.Ala410Asp)
c.1184C>A (p.Ala395Asp)
n.290-1460C>A
c.1163C>A (p.Ala388Asp)
c.*631C>A (n.*631C>A)
c.752C>A (p.Ala251Asp)
c.635C>A (p.Ala212Asp)
8g.27463215C>ACA370809114CHRNA2c.1228G>T (p.Ala410Ser)
c.1183G>T (p.Ala395Ser)
n.290-1461G>T
c.1162G>T (p.Ala388Ser)
c.*630G>T (n.*630G>T)
c.751G>T (p.Ala251Ser)
c.634G>T (p.Ala212Ser)
gnomAD v4
8g.27463215C>GCA370809111CHRNA2c.1228G>C (p.Ala410Pro)
c.1183G>C (p.Ala395Pro)
n.290-1461G>C
c.1162G>C (p.Ala388Pro)
c.*630G>C (n.*630G>C)
c.751G>C (p.Ala251Pro)
c.634G>C (p.Ala212Pro)
8g.27463215C>TCA370809113CHRNA2c.1228G>A (p.Ala410Thr)
c.1183G>A (p.Ala395Thr)
n.290-1461G>A
c.1162G>A (p.Ala388Thr)
c.*630G>A (n.*630G>A)
c.751G>A (p.Ala251Thr)
c.634G>A (p.Ala212Thr)
8g.27463216A>CCA370809115CHRNA2c.1227T>G (p.Asp409Glu)
c.1182T>G (p.Asp394Glu)
n.290-1462T>G
c.1161T>G (p.Asp387Glu)
c.*629T>G (n.*629T>G)
c.750T>G (p.Asp250Glu)
c.633T>G (p.Asp211Glu)
8g.27463216A>GCA460186200CHRNA2c.1227T>C (p.Asp409=)
c.1182T>C (p.Asp394=)
n.290-1462T>C
c.1161T>C (p.Asp387=)
c.*629T>C (n.*629T>C)
c.750T>C (p.Asp250=)
c.633T>C (p.Asp211=)
8g.27463216A>TCA370809117CHRNA2c.1227T>A (p.Asp409Glu)
c.1182T>A (p.Asp394Glu)
n.290-1462T>A
c.1161T>A (p.Asp387Glu)
c.*629T>A (n.*629T>A)
c.750T>A (p.Asp250Glu)
c.633T>A (p.Asp211Glu)
gnomAD v4
8g.27463217T>ACA370809118CHRNA2c.1226A>T (p.Asp409Val)
c.1181A>T (p.Asp394Val)
n.290-1463A>T
c.1160A>T (p.Asp387Val)
c.*628A>T (n.*628A>T)
c.749A>T (p.Asp250Val)
c.632A>T (p.Asp211Val)
gnomAD v4
8g.27463217T>CCA370809120CHRNA2c.1226A>G (p.Asp409Gly)
c.1181A>G (p.Asp394Gly)
n.290-1463A>G
c.1160A>G (p.Asp387Gly)
c.*628A>G (n.*628A>G)
c.749A>G (p.Asp250Gly)
c.632A>G (p.Asp211Gly)
8g.27463217T>GCA370809121CHRNA2c.1226A>C (p.Asp409Ala)
c.1181A>C (p.Asp394Ala)
n.290-1463A>C
c.1160A>C (p.Asp387Ala)
c.*628A>C (n.*628A>C)
c.749A>C (p.Asp250Ala)
c.632A>C (p.Asp211Ala)
8g.27463218C>ACA370809123CHRNA2c.1225G>T (p.Asp409Tyr)
c.1180G>T (p.Asp394Tyr)
n.290-1464G>T
c.1159G>T (p.Asp387Tyr)
c.*627G>T (n.*627G>T)
c.748G>T (p.Asp250Tyr)
c.631G>T (p.Asp211Tyr)
8g.27463218C>GCA370809126CHRNA2c.1225G>C (p.Asp409His)
c.1180G>C (p.Asp394His)
n.290-1464G>C
c.1159G>C (p.Asp387His)
c.*627G>C (n.*627G>C)
c.748G>C (p.Asp250His)
c.631G>C (p.Asp211His)
8g.27463218C>TCA370809124CHRNA2c.1225G>A (p.Asp409Asn)
c.1180G>A (p.Asp394Asn)
n.290-1464G>A
c.1159G>A (p.Asp387Asn)
c.*627G>A (n.*627G>A)
c.748G>A (p.Asp250Asn)
c.631G>A (p.Asp211Asn)
gnomAD v4
8g.27463219C>ACA460186204CHRNA2c.1224G>T (p.Val408=)
c.1179G>T (p.Val393=)
n.290-1465G>T
c.1158G>T (p.Val386=)
c.*626G>T (n.*626G>T)
c.747G>T (p.Val249=)
c.630G>T (p.Val210=)
gnomAD v4
8g.27463219C>GCA460186205CHRNA2c.1224G>C (p.Val408=)
c.1179G>C (p.Val393=)
n.290-1465G>C
c.1158G>C (p.Val386=)
c.*626G>C (n.*626G>C)
c.747G>C (p.Val249=)
c.630G>C (p.Val210=)
8g.27463219C>TCA460186206CHRNA2c.1224G>A (p.Val408=)
c.1179G>A (p.Val393=)
n.290-1465G>A
c.1158G>A (p.Val386=)
c.*626G>A (n.*626G>A)
c.747G>A (p.Val249=)
c.630G>A (p.Val210=)
8g.27463220A=CA1772813645CHRNA2c.1223T= (p.Val408=)
c.1178T= (p.Val393=)
n.290-1466T=
c.1157T= (p.Val386=)
c.*625T= (n.*625T=)
c.746T= (p.Val249=)
c.629T= (p.Val210=)
8g.27463220A>CCA370809128CHRNA2c.1223T>G (p.Val408Gly)
c.1178T>G (p.Val393Gly)
n.290-1466T>G
c.1157T>G (p.Val386Gly)
c.*625T>G (n.*625T>G)
c.746T>G (p.Val249Gly)
c.629T>G (p.Val210Gly)
8g.27463220A>GCA4689497CHRNA2c.1223T>C (p.Val408Ala)
c.1178T>C (p.Val393Ala)
n.290-1466T>C
c.1157T>C (p.Val386Ala)
c.*625T>C (n.*625T>C)
c.746T>C (p.Val249Ala)
c.629T>C (p.Val210Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463220A>TCA370809130CHRNA2c.1223T>A (p.Val408Glu)
c.1178T>A (p.Val393Glu)
n.290-1466T>A
c.1157T>A (p.Val386Glu)
c.*625T>A (n.*625T>A)
c.746T>A (p.Val249Glu)
c.629T>A (p.Val210Glu)
8g.27463221C>ACA370809132CHRNA2c.1222G>T (p.Val408Leu)
c.1177G>T (p.Val393Leu)
n.290-1467G>T
c.1156G>T (p.Val386Leu)
c.*624G>T (n.*624G>T)
c.745G>T (p.Val249Leu)
c.628G>T (p.Val210Leu)
gnomAD v4
8g.27463221C=CA1772813653CHRNA2c.1222G= (p.Val408=)
c.1177G= (p.Val393=)
n.290-1467G=
c.1156G= (p.Val386=)
c.*624G= (n.*624G=)
c.745G= (p.Val249=)
c.628G= (p.Val210=)
8g.27463221C>GCA313419CHRNA2c.1222G>C (p.Val408Leu)
c.1177G>C (p.Val393Leu)
n.290-1467G>C
c.1156G>C (p.Val386Leu)
c.*624G>C (n.*624G>C)
c.745G>C (p.Val249Leu)
c.628G>C (p.Val210Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463221C>TCA370809133CHRNA2c.1222G>A (p.Val408Met)
c.1177G>A (p.Val393Met)
n.290-1467G>A
c.1156G>A (p.Val386Met)
c.*624G>A (n.*624G>A)
c.745G>A (p.Val249Met)
c.628G>A (p.Val210Met)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.27463222G>ACA4689498CHRNA2c.1221C>T (p.Asn407=)
c.1176C>T (p.Asn392=)
n.290-1468C>T
c.1155C>T (p.Asn385=)
c.*623C>T (n.*623C>T)
c.744C>T (p.Asn248=)
c.627C>T (p.Asn209=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463222G>CCA370809135CHRNA2c.1221C>G (p.Asn407Lys)
c.1176C>G (p.Asn392Lys)
n.290-1468C>G
c.1155C>G (p.Asn385Lys)
c.*623C>G (n.*623C>G)
c.744C>G (p.Asn248Lys)
c.627C>G (p.Asn209Lys)
8g.27463222G=CA1772813658CHRNA2c.1221C= (p.Asn407=)
c.1176C= (p.Asn392=)
n.290-1468C=
c.1155C= (p.Asn385=)
c.*623C= (n.*623C=)
c.744C= (p.Asn248=)
c.627C= (p.Asn209=)
8g.27463222G>TCA370809137CHRNA2c.1221C>A (p.Asn407Lys)
c.1176C>A (p.Asn392Lys)
n.290-1468C>A
c.1155C>A (p.Asn385Lys)
c.*623C>A (n.*623C>A)
c.744C>A (p.Asn248Lys)
c.627C>A (p.Asn209Lys)
gnomAD v4
8g.27463223T>ACA4689499CHRNA2c.1220A>T (p.Asn407Ile)
c.1175A>T (p.Asn392Ile)
n.290-1469A>T
c.1154A>T (p.Asn385Ile)
c.*622A>T (n.*622A>T)
c.743A>T (p.Asn248Ile)
c.626A>T (p.Asn209Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463223T>CCA370809139CHRNA2c.1220A>G (p.Asn407Ser)
c.1175A>G (p.Asn392Ser)
n.290-1469A>G
c.1154A>G (p.Asn385Ser)
c.*622A>G (n.*622A>G)
c.743A>G (p.Asn248Ser)
c.626A>G (p.Asn209Ser)
8g.27463223T>GCA370809141CHRNA2c.1220A>C (p.Asn407Thr)
c.1175A>C (p.Asn392Thr)
n.290-1469A>C
c.1154A>C (p.Asn385Thr)
c.*622A>C (n.*622A>C)
c.743A>C (p.Asn248Thr)
c.626A>C (p.Asn209Thr)
8g.27463223T=CA1772813662CHRNA2c.1220A= (p.Asn407=)
c.1175A= (p.Asn392=)
n.290-1469A=
c.1154A= (p.Asn385=)
c.*622A= (n.*622A=)
c.743A= (p.Asn248=)
c.626A= (p.Asn209=)
8g.27463224T>ACA370809144CHRNA2c.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)
8g.27463224T>CCA370809145CHRNA2c.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)
8g.27463224T>GCA370809142CHRNA2c.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)
8g.27463225G>ACA460186217CHRNA2c.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
8g.27463225G>CCA4689500CHRNA2c.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
8g.27463225G=CA1772813668CHRNA2c.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=)
8g.27463225G>TCA370809146CHRNA2c.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)
8g.27463226C>ACA370809151CHRNA2c.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
8g.27463226C=CA1772813672CHRNA2c.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=)
8g.27463226C>GCA370809148CHRNA2c.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
8g.27463226C>TCA370809149CHRNA2c.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
8g.27463227T>ACA370809152CHRNA2c.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)
8g.27463227T>CCA370809154CHRNA2c.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
8g.27463227T>GCA370809155CHRNA2c.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)
8g.27463228C>ACA370809156CHRNA2c.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)
8g.27463228C=CA1772813676CHRNA2c.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=)
8g.27463228C>GCA370809158CHRNA2c.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)
8g.27463228C>TCA174241435CHRNA2c.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
8g.27463229T>ACA370809159CHRNA2c.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)
8g.27463229T>CCA4689501CHRNA2c.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
8g.27463229T>GCA370809161CHRNA2c.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
8g.27463229T=CA1772813680CHRNA2c.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=)
8g.27463230C>ACA370809162CHRNA2c.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)
8g.27463230C=CA1772813683CHRNA2c.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=)
8g.27463230C>GCA370809163CHRNA2c.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
8g.27463230C>TCA370809165CHRNA2c.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
8g.27463231C>ACA460186223CHRNA2c.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=)
8g.27463231C>GCA460186225CHRNA2c.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=)
8g.27463231C>TCA460186227CHRNA2c.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=)
8g.27463232A>CCA370809166CHRNA2c.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)
8g.27463232A>GCA370809169CHRNA2c.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)
8g.27463232A>TCA370809167CHRNA2c.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)
8g.27463233G>ACA460186233CHRNA2c.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=)
8g.27463233G>CCA370809170CHRNA2c.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)
8g.27463233G>TCA370809172CHRNA2c.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)
8g.27463234C>ACA370809174CHRNA2c.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
8g.27463234C>GCA370809175CHRNA2c.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
8g.27463234C>TCA370809176CHRNA2c.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)
8g.27463235C>ACA370809178CHRNA2c.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)
8g.27463235C>GCA370809179CHRNA2c.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)
8g.27463235C>TCA370809181CHRNA2c.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)
8g.27463236A>CCA370809183CHRNA2c.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)
8g.27463236A>GCA370809184CHRNA2c.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)
8g.27463236A>TCA370809185CHRNA2c.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)
8g.27463237G>ACA460186256CHRNA2c.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
8g.27463237G>CCA370809189CHRNA2c.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)
8g.27463237G>TCA370809187CHRNA2c.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)
8g.27463238T>ACA370809190CHRNA2c.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)
8g.27463238T>CCA370809191CHRNA2c.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
8g.27463238T>GCA370809193CHRNA2c.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)
8g.27463238T=CA1772813686CHRNA2c.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=)
8g.27463239G>ACA4689502CHRNA2c.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
8g.27463239G>CCA370809194CHRNA2c.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)
8g.27463239G=CA1772813688CHRNA2c.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=)
8g.27463239G>TCA370809195CHRNA2c.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)
8g.27463240A=CA1772813690CHRNA2c.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=)
8g.27463240A>CCA370809197CHRNA2c.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)
8g.27463240A>GCA460186262CHRNA2c.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
8g.27463240A>TCA370809198CHRNA2c.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
8g.27463241T>ACA370809199CHRNA2c.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)
8g.27463241T>CCA4689503CHRNA2c.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
8g.27463241T>GCA370809201CHRNA2c.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)
8g.27463241T=CA1772813693CHRNA2c.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=)
8g.27463241_27463242delinsTACA1772813694CHRNA2c.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=)
8g.27463242A>CCA370809203CHRNA2c.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)
8g.27463242A>GCA370809205CHRNA2c.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)
8g.27463242A>TCA370809206CHRNA2c.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)
8g.27463243delCA174241444CHRNA2c.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
8g.27463243A=CA1772813701CHRNA2c.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=)
8g.27463243A>CCA174241445CHRNA2c.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
8g.27463243A>GCA460186265CHRNA2c.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
8g.27463243A>TCA460186264CHRNA2c.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=)
8g.27463245_27463246delCA2686678222CHRNA2c.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
8g.27463244G>ACA370809207CHRNA2c.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)
8g.27463244G>CCA370809208CHRNA2c.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
8g.27463244G>TCA370809210CHRNA2c.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)
8g.27463245A=CA1772813705CHRNA2c.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=)
8g.27463245A>CCA370809211CHRNA2c.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
8g.27463245A>GCA370809212CHRNA2c.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
8g.27463245A>TCA4689504CHRNA2c.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
8g.27463246G>ACA460186273CHRNA2c.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
8g.27463246G>CCA460186274CHRNA2c.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=)
8g.27463246G=CA1772813708CHRNA2c.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=)
8g.27463246G>TCA460186275CHRNA2c.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=)
8g.27463247G>ACA370809215CHRNA2c.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
8g.27463247G>CCA370809216CHRNA2c.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)
8g.27463247G=CA1772813711CHRNA2c.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=)
8g.27463247G>TCA370809217CHRNA2c.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)
8g.27463248G>ACA370809218CHRNA2c.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)
8g.27463248G>CCA370809219CHRNA2c.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)
8g.27463248G>TCA370809221CHRNA2c.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)
8g.27463249G>ACA460186284CHRNA2c.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
8g.27463249G>CCA370809222CHRNA2c.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)
8g.27463249G=CA1772813717CHRNA2c.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=)
8g.27463249G>TCA370809224CHRNA2c.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
8g.27463250C>ACA370809228CHRNA2c.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
8g.27463250C>GCA370809227CHRNA2c.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)
8g.27463250C>TCA370809226CHRNA2c.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)
8g.27463251T>ACA370809231CHRNA2c.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)
8g.27463251T>CCA370809230CHRNA2c.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
8g.27463251T>GCA370809233CHRNA2c.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)
8g.27463251T=CA1772813721CHRNA2c.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=)
8g.27463252G>ACA460186292CHRNA2c.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
8g.27463252G>CCA460186293CHRNA2c.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=)
8g.27463252G>TCA460186295CHRNA2c.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=)
8g.27463253A=CA1772813724CHRNA2c.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=)
8g.27463253A>CCA370809234CHRNA2c.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)
8g.27463253A>GCA370809236CHRNA2c.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
8g.27463253A>TCA370809237CHRNA2c.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
8g.27463254G>ACA370809238CHRNA2c.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
8g.27463254G>CCA370809240CHRNA2c.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)
8g.27463254G=CA1772813726CHRNA2c.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=)
8g.27463254G>TCA370809241CHRNA2c.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)
8g.27463255C>ACA370809243CHRNA2c.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
8g.27463255C=CA1772813728CHRNA2c.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=)
8g.27463255C>GCA370809245CHRNA2c.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)
8g.27463255C>TCA460186300CHRNA2c.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
8g.27463256T>ACA370809246CHRNA2c.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)
8g.27463256T>CCA370809247CHRNA2c.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
8g.27463256T>GCA370809248CHRNA2c.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)
8g.27463257T>ACA370809252CHRNA2c.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)
8g.27463257T>CCA370809251CHRNA2c.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)
8g.27463257T>GCA370809250CHRNA2c.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)
8g.27463258C>ACA460186302CHRNA2c.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=)
8g.27463258C>GCA460186304CHRNA2c.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=)
8g.27463258C>TCA460186308CHRNA2c.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=)
8g.27463259A>CCA370809253CHRNA2c.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)
8g.27463259A>GCA370809255CHRNA2c.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
8g.27463259A>TCA370809256CHRNA2c.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)
8g.27463260G>ACA460186310CHRNA2c.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=)
8g.27463260G>CCA370809258CHRNA2c.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)
8g.27463260G>TCA370809259CHRNA2c.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)
8g.27463261G>ACA4689505CHRNA2c.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
8g.27463261G>CCA460186312CHRNA2c.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=)
8g.27463261G=CA1772813732CHRNA2c.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=)
8g.27463261G>TCA460186313CHRNA2c.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=)
8g.27463262C>ACA370809260CHRNA2c.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
8g.27463262C=CA1772813738CHRNA2c.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=)
8g.27463262C>GCA313417CHRNA2c.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
8g.27463262C>TCA4689506CHRNA2c.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
8g.27463263G>ACA16612305CHRNA2c.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
8g.27463263G>CCA370809262CHRNA2c.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)
8g.27463263G=CA1772813747CHRNA2c.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=)
8g.27463263G>TCA370809264CHRNA2c.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
8g.27463264T>ACA460186321CHRNA2c.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=)
8g.27463264T>CCA460186320CHRNA2c.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=)
8g.27463264T>GCA460186319CHRNA2c.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
8g.27463264T=CA1772813752CHRNA2c.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=)
8g.27463265A>CCA370809267CHRNA2c.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)
8g.27463265A>GCA370809268CHRNA2c.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
8g.27463265A>TCA370809265CHRNA2c.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)
8g.27463266G>ACA460186328CHRNA2c.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=)
8g.27463266G>CCA370809270CHRNA2c.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
8g.27463266G>TCA370809271CHRNA2c.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)
8g.27463270delCA2686678223CHRNA2c.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
8g.27463267G>ACA4689507CHRNA2c.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
8g.27463267G>CCA460186330CHRNA2c.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
8g.27463267G=CA1772813757CHRNA2c.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=)
8g.27463267G>TCA4689508CHRNA2c.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
8g.27463268G>ACA370809274CHRNA2c.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)
8g.27463268G>CCA174241469CHRNA2c.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
8g.27463268G=CA1772813761CHRNA2c.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=)
8g.27463268G>TCA370809275CHRNA2c.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
8g.27463269G>ACA4689509CHRNA2c.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
8g.27463269G>CCA370809278CHRNA2c.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
8g.27463269G=CA1772813769CHRNA2c.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=)
8g.27463269G>TCA370809279CHRNA2c.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)
8g.27463269_27463270insTCTGGGCTTTCTACAAAAAAGAAAGGGCTATGGGCAAACAGTAGGAAGCCTGGGGATGCTAACCTCCTGGACGAAAAGATCATGCTCTATCTGGCACATGGCTGTGGAGAAGGAAGTGGGCAAATGCCACACTAAATGGCTTCTCGCA580954954CHRNA2c.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
8g.27463270G>ACA4689510CHRNA2c.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
8g.27463270G>CCA370809281CHRNA2c.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
8g.27463270G=CA1772813775CHRNA2c.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=)
8g.27463270G>TCA4689511CHRNA2c.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
8g.27463271T>ACA370809287CHRNA2c.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)
8g.27463271T>CCA370809285CHRNA2c.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
8g.27463271T>GCA370809284CHRNA2c.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
8g.27463271T=CA1772813780CHRNA2c.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=)
8g.27463272G>ACA370809288CHRNA2c.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)
8g.27463272G>CCA370809289CHRNA2c.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)
8g.27463272G>TCA370809291CHRNA2c.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)
8g.27463273G>ACA460186335CHRNA2c.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
8g.27463273G>CCA370809292CHRNA2c.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)
8g.27463273G>TCA370809294CHRNA2c.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)
8g.27463274C>ACA370809295CHRNA2c.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)
8g.27463274C>GCA370809297CHRNA2c.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)
8g.27463274C>TCA370809298CHRNA2c.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
8g.27463275A>CCA370809300CHRNA2c.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)
8g.27463275A>GCA370809302CHRNA2c.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)
8g.27463275A>TCA370809303CHRNA2c.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)
8g.27463275dupCA2686678224CHRNA2c.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
8g.27463276G>ACA460186341CHRNA2c.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=)
8g.27463276G>CCA460186346CHRNA2c.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=)
8g.27463276G>TCA460186343CHRNA2c.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=)
8g.27463277A>CCA370809304CHRNA2c.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)
8g.27463277A>GCA370809306CHRNA2c.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
8g.27463277A>TCA370809307CHRNA2c.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)
8g.27463278G>ACA313466CHRNA2c.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
8g.27463278G>CCA370809310CHRNA2c.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)
8g.27463278G=CA1772813783CHRNA2c.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=)
8g.27463278G>TCA174241479CHRNA2c.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
8g.27463279C>ACA370809311CHRNA2c.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
8g.27463279C=CA1772813787CHRNA2c.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=)
8g.27463279C>GCA370809312CHRNA2c.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)
8g.27463279C>TCA460186358CHRNA2c.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
8g.27463280T>ACA370809313CHRNA2c.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)
8g.27463280T>CCA10630788CHRNA2c.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
8g.27463280T>GCA370809315CHRNA2c.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)
8g.27463280T=CA1772813792CHRNA2c.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=)
8g.27463281C>ACA370809317CHRNA2c.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)
8g.27463281C>GCA370809318CHRNA2c.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)
8g.27463281C>TCA370809319CHRNA2c.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)
8g.27463282C>ACA460186363CHRNA2c.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
8g.27463282C>GCA460186365CHRNA2c.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=)
8g.27463282C>TCA460186366CHRNA2c.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=)
8g.27463283A>CCA370809320CHRNA2c.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
8g.27463283A>GCA370809323CHRNA2c.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)
8g.27463283A>TCA370809322CHRNA2c.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)
8g.27463284C>ACA370809325CHRNA2c.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
8g.27463284C=CA1772813796CHRNA2c.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=)
8g.27463284C>GCA370809326CHRNA2c.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
8g.27463284C>TCA4689512CHRNA2c.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
8g.27463285G>ACA4689513CHRNA2c.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
8g.27463285G>CCA460186372CHRNA2c.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=)
8g.27463285G=CA1772813804CHRNA2c.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=)
8g.27463285G>TCA460186375CHRNA2c.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=)
8g.27463286G>ACA370809328CHRNA2c.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
8g.27463286G>CCA370809331CHRNA2c.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
8g.27463286G>TCA370809329CHRNA2c.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)
8g.27463287G>ACA370809332CHRNA2c.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
8g.27463287G>CCA370809334CHRNA2c.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)
8g.27463287G>TCA370809335CHRNA2c.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)
8g.27463288T>ACA460186382CHRNA2c.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=)
8g.27463288T>CCA460186383CHRNA2c.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
8g.27463288T>GCA460186385CHRNA2c.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
8g.27463288T=CA1772813805CHRNA2c.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=)
8g.27463289G>ACA4689514CHRNA2c.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
8g.27463289G>CCA370809337CHRNA2c.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
8g.27463289G=CA1772813808CHRNA2c.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=)
8g.27463289G>TCA370809338CHRNA2c.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)
8g.27463290G>ACA370809339CHRNA2c.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
8g.27463290G>CCA370809340CHRNA2c.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)
8g.27463290G=CA1772813811CHRNA2c.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=)
8g.27463290G>TCA4689515CHRNA2c.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
8g.27463290_27463291delinsGTCA1772813812CHRNA2c.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=)
8g.27463291delCA1139660411CHRNA2c.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
8g.27463291T>ACA460186388CHRNA2c.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
8g.27463291T>CCA460186390CHRNA2c.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=)
8g.27463291T>GCA460186392CHRNA2c.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
8g.27463291T=CA1772813817CHRNA2c.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=)
8g.27463292G>ACA4689516CHRNA2c.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
8g.27463292G>CCA370809343CHRNA2c.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)
8g.27463292G=CA1772813822CHRNA2c.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=)
8g.27463292G>TCA370809344CHRNA2c.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)
8g.27463296dupCA2779502046CHRNA2c.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?)
8g.27463293G>ACA370809347CHRNA2c.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)
8g.27463293G>CCA370809345CHRNA2c.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)
8g.27463293G>TCA370809346CHRNA2c.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)
8g.27463294G>ACA4689517CHRNA2c.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
8g.27463294G>CCA460186400CHRNA2c.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=)
8g.27463294G=CA1772813827CHRNA2c.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=)
8g.27463294G>TCA460186401CHRNA2c.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=)
8g.27463295G>ACA313464CHRNA2c.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
8g.27463295G>CCA370809350CHRNA2c.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)
8g.27463295G=CA1772813832CHRNA2c.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=)
8g.27463295G>TCA370809351CHRNA2c.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)
8g.27463296G>ACA370809353CHRNA2c.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
8g.27463296G>CCA370809354CHRNA2c.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
8g.27463296G=CA1772813839CHRNA2c.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=)
8g.27463296G>TCA4689518CHRNA2c.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
8g.27463296_27463314delinsGCCGGTTCATCAGAAGCCACA1772813842CHRNA2c.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=)
8g.27463297C>ACA460186405CHRNA2c.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=)
8g.27463297C=CA1772813846CHRNA2c.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=)
8g.27463297C>GCA460186408CHRNA2c.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=)
8g.27463297C>TCA460186409CHRNA2c.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
8g.27463301_27463318delCA580954955CHRNA2c.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
8g.27463298C>ACA370809356CHRNA2c.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)
8g.27463298C=CA1772813850CHRNA2c.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=)
8g.27463298C>GCA370809358CHRNA2c.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)
8g.27463298C>TCA174241513CHRNA2c.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
8g.27463299_27463306dupCA2697549785CHRNA2c.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
8g.27463299G>ACA4689519CHRNA2c.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
8g.27463299G>CCA370809360CHRNA2c.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)
8g.27463299G=CA1772813854CHRNA2c.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=)
8g.27463299G>TCA460186415CHRNA2c.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
8g.27463300G>ACA460186416CHRNA2c.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=)
8g.27463300G>CCA370809362CHRNA2c.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)
8g.27463300G>TCA370809363CHRNA2c.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)
8g.27463301T>ACA370809367CHRNA2c.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)
8g.27463301T>CCA4689520CHRNA2c.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
8g.27463301T>GCA370809366CHRNA2c.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)
8g.27463301T=CA1772813863CHRNA2c.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=)
8g.27463302T>ACA370809369CHRNA2c.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)
8g.27463302T>CCA370809371CHRNA2c.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
8g.27463302T>GCA370809372CHRNA2c.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)
8g.27463303C>ACA370809374CHRNA2c.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)
8g.27463303C>GCA370809375CHRNA2c.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)
8g.27463303C>TCA370809376CHRNA2c.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)
8g.27463304A=CA1772813866CHRNA2c.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=)
8g.27463304A>CCA370809378CHRNA2c.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)
8g.27463304A>GCA4689521CHRNA2c.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
8g.27463304A>TCA370809380CHRNA2c.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)
8g.27463305T>ACA370809382CHRNA2c.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)
8g.27463305T>CCA370809383CHRNA2c.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)
8g.27463305T>GCA370809385CHRNA2c.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)
8g.27463306C>ACA460186433CHRNA2c.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=)
8g.27463306C>GCA460186430CHRNA2c.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
8g.27463306C>TCA460186431CHRNA2c.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

Number of alleles fetched