Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
8g.27463307A>CCA370809386CHRNA2c.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)
8g.27463307A>GCA370809389CHRNA2c.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)
8g.27463307A>TCA370809388CHRNA2c.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)
8g.27463308G>ACA460186440CHRNA2c.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=)
8g.27463308G>CCA370809391CHRNA2c.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)
8g.27463308G>TCA370809392CHRNA2c.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)
8g.27463309A>CCA460186441CHRNA2c.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=)
8g.27463309A>GCA460186442CHRNA2c.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=)
8g.27463309A>TCA460186443CHRNA2c.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=)
8g.27463310A>CCA370809394CHRNA2c.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)
8g.27463310A>GCA370809395CHRNA2c.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)
8g.27463310A>TCA370809397CHRNA2c.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)
8g.27463311G>ACA370809398CHRNA2c.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)
8g.27463311G>CCA370809399CHRNA2c.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)
8g.27463311G>TCA370809400CHRNA2c.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)
8g.27463312C>ACA370809402CHRNA2c.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)
8g.27463312C>GCA370809403CHRNA2c.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)
8g.27463312C>TCA370809405CHRNA2c.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
8g.27463313C>ACA370809406CHRNA2c.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)
8g.27463313C>GCA370809408CHRNA2c.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)
8g.27463313C>TCA370809409CHRNA2c.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)
8g.27463314A>CCA370809413CHRNA2c.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)
8g.27463314A>GCA370809410CHRNA2c.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)
8g.27463314A>TCA370809412CHRNA2c.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)
8g.27463315C>ACA460186452CHRNA2c.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=)
8g.27463315C>GCA460186455CHRNA2c.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
8g.27463315C>TCA460186457CHRNA2c.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=)
8g.27463316C>ACA370809415CHRNA2c.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
8g.27463316C=CA1772813872CHRNA2c.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=)
8g.27463316C>GCA370809416CHRNA2c.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
8g.27463316C>TCA4689522CHRNA2c.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
8g.27463316_27463317delinsCGCA1772813870CHRNA2c.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=)
8g.27463317G>ACA174241544CHRNA2c.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
8g.27463317G>CCA370809419CHRNA2c.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
8g.27463317G=CA1772813878CHRNA2c.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=)
8g.27463317G>TCA460186463CHRNA2c.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
8g.27463320delCA1772813877CHRNA2c.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
8g.27463318G>ACA460186465CHRNA2c.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
8g.27463318G>CCA460186466CHRNA2c.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=)
8g.27463318G>TCA460186467CHRNA2c.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=)
8g.27463319G>ACA370809420CHRNA2c.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
8g.27463319G>CCA370809422CHRNA2c.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)
8g.27463319G=CA1772813886CHRNA2c.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=)
8g.27463319G>TCA370809423CHRNA2c.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)
8g.27463320G>ACA370809425CHRNA2c.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
8g.27463320G>CCA313462CHRNA2c.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
8g.27463320G=CA1772813891CHRNA2c.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=)
8g.27463320G>TCA370809426CHRNA2c.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)
8g.27463320_27463321dupCA2686678225CHRNA2c.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
8g.27463321C>ACA460186472CHRNA2c.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
8g.27463321C>GCA460186473CHRNA2c.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=)
8g.27463321C>TCA460186475CHRNA2c.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=)
8g.27463322A>CCA370809430CHRNA2c.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
8g.27463322A>GCA370809429CHRNA2c.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)
8g.27463322A>TCA370809427CHRNA2c.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)
8g.27463323C>ACA370809431CHRNA2c.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)
8g.27463323C=CA1772813895CHRNA2c.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=)
8g.27463323C>GCA370809432CHRNA2c.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)
8g.27463323C>TCA370809433CHRNA2c.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
8g.27463324A>CCA370809435CHRNA2c.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)
8g.27463324A>GCA460186477CHRNA2c.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
8g.27463324A>TCA370809436CHRNA2c.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
8g.27463325C>ACA370809439CHRNA2c.1118G>T (p.Cys373Phe)
c.1073G>T (p.Cys358Phe)
n.290-1571G>T
c.1052G>T (p.Cys351Phe)
c.*520G>T (n.*520G>T)
c.641G>T (p.Cys214Phe)
c.524G>T (p.Cys175Phe)
8g.27463325C=CA1772813898CHRNA2c.1118G= (p.Cys373=)
c.1073G= (p.Cys358=)
n.290-1571G=
c.1052G= (p.Cys351=)
c.*520G= (n.*520G=)
c.641G= (p.Cys214=)
c.524G= (p.Cys175=)
8g.27463325C>GCA4689523CHRNA2c.1118G>C (p.Cys373Ser)
c.1073G>C (p.Cys358Ser)
n.290-1571G>C
c.1052G>C (p.Cys351Ser)
c.*520G>C (n.*520G>C)
c.641G>C (p.Cys214Ser)
c.524G>C (p.Cys175Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463325C>TCA370809437CHRNA2c.1118G>A (p.Cys373Tyr)
c.1073G>A (p.Cys358Tyr)
n.290-1571G>A
c.1052G>A (p.Cys351Tyr)
c.*520G>A (n.*520G>A)
c.641G>A (p.Cys214Tyr)
c.524G>A (p.Cys175Tyr)
gnomAD v4
8g.27463326A=CA1772813903CHRNA2c.1117T= (p.Cys373=)
c.1072T= (p.Cys358=)
n.290-1572T=
c.1051T= (p.Cys351=)
c.*519T= (n.*519T=)
c.640T= (p.Cys214=)
c.523T= (p.Cys175=)
8g.27463326A>CCA370809441CHRNA2c.1117T>G (p.Cys373Gly)
c.1072T>G (p.Cys358Gly)
n.290-1572T>G
c.1051T>G (p.Cys351Gly)
c.*519T>G (n.*519T>G)
c.640T>G (p.Cys214Gly)
c.523T>G (p.Cys175Gly)
8g.27463326A>GCA4689524CHRNA2c.1117T>C (p.Cys373Arg)
c.1072T>C (p.Cys358Arg)
n.290-1572T>C
c.1051T>C (p.Cys351Arg)
c.*519T>C (n.*519T>C)
c.640T>C (p.Cys214Arg)
c.523T>C (p.Cys175Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463326A>TCA370809443CHRNA2c.1117T>A (p.Cys373Ser)
c.1072T>A (p.Cys358Ser)
n.290-1572T>A
c.1051T>A (p.Cys351Ser)
c.*519T>A (n.*519T>A)
c.640T>A (p.Cys214Ser)
c.523T>A (p.Cys175Ser)
8g.27463327G>ACA460186480CHRNA2c.1116C>T (p.Gly372=)
c.1071C>T (p.Gly357=)
n.290-1573C>T
c.1050C>T (p.Gly350=)
c.*518C>T (n.*518C>T)
c.639C>T (p.Gly213=)
c.522C>T (p.Gly174=)
8g.27463327G>CCA460186482CHRNA2c.1116C>G (p.Gly372=)
c.1071C>G (p.Gly357=)
n.290-1573C>G
c.1050C>G (p.Gly350=)
c.*518C>G (n.*518C>G)
c.639C>G (p.Gly213=)
c.522C>G (p.Gly174=)
8g.27463327G=CA1772813906CHRNA2c.1116C= (p.Gly372=)
c.1071C= (p.Gly357=)
n.290-1573C=
c.1050C= (p.Gly350=)
c.*518C= (n.*518C=)
c.639C= (p.Gly213=)
c.522C= (p.Gly174=)
8g.27463327G>TCA460186483CHRNA2c.1116C>A (p.Gly372=)
c.1071C>A (p.Gly357=)
n.290-1573C>A
c.1050C>A (p.Gly350=)
c.*518C>A (n.*518C>A)
c.639C>A (p.Gly213=)
c.522C>A (p.Gly174=)
dbSNP
8g.27463328C>ACA370809444CHRNA2c.1115G>T (p.Gly372Val)
c.1070G>T (p.Gly357Val)
n.290-1574G>T
c.1049G>T (p.Gly350Val)
c.*517G>T (n.*517G>T)
c.638G>T (p.Gly213Val)
c.521G>T (p.Gly174Val)
gnomAD v4
8g.27463328C>GCA370809445CHRNA2c.1115G>C (p.Gly372Ala)
c.1070G>C (p.Gly357Ala)
n.290-1574G>C
c.1049G>C (p.Gly350Ala)
c.*517G>C (n.*517G>C)
c.638G>C (p.Gly213Ala)
c.521G>C (p.Gly174Ala)
8g.27463328C>TCA370809446CHRNA2c.1115G>A (p.Gly372Asp)
c.1070G>A (p.Gly357Asp)
n.290-1574G>A
c.1049G>A (p.Gly350Asp)
c.*517G>A (n.*517G>A)
c.638G>A (p.Gly213Asp)
c.521G>A (p.Gly174Asp)
8g.27463329C>ACA370809447CHRNA2c.1114G>T (p.Gly372Cys)
c.1069G>T (p.Gly357Cys)
n.290-1575G>T
c.1048G>T (p.Gly350Cys)
c.*516G>T (n.*516G>T)
c.637G>T (p.Gly213Cys)
c.520G>T (p.Gly174Cys)
8g.27463329C>GCA370809450CHRNA2c.1114G>C (p.Gly372Arg)
c.1069G>C (p.Gly357Arg)
n.290-1575G>C
c.1048G>C (p.Gly350Arg)
c.*516G>C (n.*516G>C)
c.637G>C (p.Gly213Arg)
c.520G>C (p.Gly174Arg)
8g.27463329C>TCA370809449CHRNA2c.1114G>A (p.Gly372Ser)
c.1069G>A (p.Gly357Ser)
n.290-1575G>A
c.1048G>A (p.Gly350Ser)
c.*516G>A (n.*516G>A)
c.637G>A (p.Gly213Ser)
c.520G>A (p.Gly174Ser)
8g.27463330C>ACA16605474CHRNA2c.1113G>T (p.Leu371=)
c.1068G>T (p.Leu356=)
n.290-1576G>T
c.1047G>T (p.Leu349=)
c.*515G>T (n.*515G>T)
c.636G>T (p.Leu212=)
c.519G>T (p.Leu173=)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.27463330C=CA1772813909CHRNA2c.1113G= (p.Leu371=)
c.1068G= (p.Leu356=)
n.290-1576G=
c.1047G= (p.Leu349=)
c.*515G= (n.*515G=)
c.636G= (p.Leu212=)
c.519G= (p.Leu173=)
8g.27463330C>GCA460186486CHRNA2c.1113G>C (p.Leu371=)
c.1068G>C (p.Leu356=)
n.290-1576G>C
c.1047G>C (p.Leu349=)
c.*515G>C (n.*515G>C)
c.636G>C (p.Leu212=)
c.519G>C (p.Leu173=)
8g.27463330C>TCA460186487CHRNA2c.1113G>A (p.Leu371=)
c.1068G>A (p.Leu356=)
n.290-1576G>A
c.1047G>A (p.Leu349=)
c.*515G>A (n.*515G>A)
c.636G>A (p.Leu212=)
c.519G>A (p.Leu173=)
8g.27463331A>CCA370809452CHRNA2c.1112T>G (p.Leu371Arg)
c.1067T>G (p.Leu356Arg)
n.290-1577T>G
c.1046T>G (p.Leu349Arg)
c.*514T>G (n.*514T>G)
c.635T>G (p.Leu212Arg)
c.518T>G (p.Leu173Arg)
8g.27463331A>GCA370809454CHRNA2c.1112T>C (p.Leu371Pro)
c.1067T>C (p.Leu356Pro)
n.290-1577T>C
c.1046T>C (p.Leu349Pro)
c.*514T>C (n.*514T>C)
c.635T>C (p.Leu212Pro)
c.518T>C (p.Leu173Pro)
gnomAD v4
8g.27463331A>TCA370809455CHRNA2c.1112T>A (p.Leu371Gln)
c.1067T>A (p.Leu356Gln)
n.290-1577T>A
c.1046T>A (p.Leu349Gln)
c.*514T>A (n.*514T>A)
c.635T>A (p.Leu212Gln)
c.518T>A (p.Leu173Gln)
8g.27463332G>ACA460186488CHRNA2c.1111C>T (p.Leu371=)
c.1066C>T (p.Leu356=)
n.290-1578C>T
c.1045C>T (p.Leu349=)
c.*513C>T (n.*513C>T)
c.634C>T (p.Leu212=)
c.517C>T (p.Leu173=)
8g.27463332G>CCA370809457CHRNA2c.1111C>G (p.Leu371Val)
c.1066C>G (p.Leu356Val)
n.290-1578C>G
c.1045C>G (p.Leu349Val)
c.*513C>G (n.*513C>G)
c.634C>G (p.Leu212Val)
c.517C>G (p.Leu173Val)
8g.27463332G>TCA370809458CHRNA2c.1111C>A (p.Leu371Met)
c.1066C>A (p.Leu356Met)
n.290-1578C>A
c.1045C>A (p.Leu349Met)
c.*513C>A (n.*513C>A)
c.634C>A (p.Leu212Met)
c.517C>A (p.Leu173Met)
8g.27463333A>CCA460186493CHRNA2c.1110T>G (p.Leu370=)
c.1065T>G (p.Leu355=)
n.290-1579T>G
c.1044T>G (p.Leu348=)
c.*512T>G (n.*512T>G)
c.633T>G (p.Leu211=)
c.516T>G (p.Leu172=)
8g.27463333A>GCA460186494CHRNA2c.1110T>C (p.Leu370=)
c.1065T>C (p.Leu355=)
n.290-1579T>C
c.1044T>C (p.Leu348=)
c.*512T>C (n.*512T>C)
c.633T>C (p.Leu211=)
c.516T>C (p.Leu172=)
gnomAD v4
8g.27463333A>TCA460186492CHRNA2c.1110T>A (p.Leu370=)
c.1065T>A (p.Leu355=)
n.290-1579T>A
c.1044T>A (p.Leu348=)
c.*512T>A (n.*512T>A)
c.633T>A (p.Leu211=)
c.516T>A (p.Leu172=)
8g.27463334A=CA1772813912CHRNA2c.1109T= (p.Leu370=)
c.1064T= (p.Leu355=)
n.290-1580T=
c.1043T= (p.Leu348=)
c.*511T= (n.*511T=)
c.632T= (p.Leu211=)
c.515T= (p.Leu172=)
8g.27463334A>CCA370809460CHRNA2c.1109T>G (p.Leu370Arg)
c.1064T>G (p.Leu355Arg)
n.290-1580T>G
c.1043T>G (p.Leu348Arg)
c.*511T>G (n.*511T>G)
c.632T>G (p.Leu211Arg)
c.515T>G (p.Leu172Arg)
8g.27463334A>GCA370809462CHRNA2c.1109T>C (p.Leu370Pro)
c.1064T>C (p.Leu355Pro)
n.290-1580T>C
c.1043T>C (p.Leu348Pro)
c.*511T>C (n.*511T>C)
c.632T>C (p.Leu211Pro)
c.515T>C (p.Leu172Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463334A>TCA370809463CHRNA2c.1109T>A (p.Leu370His)
c.1064T>A (p.Leu355His)
n.290-1580T>A
c.1043T>A (p.Leu348His)
c.*511T>A (n.*511T>A)
c.632T>A (p.Leu211His)
c.515T>A (p.Leu172His)
8g.27463335G>ACA370809464CHRNA2c.1108C>T (p.Leu370Phe)
c.1063C>T (p.Leu355Phe)
n.290-1581C>T
c.1042C>T (p.Leu348Phe)
c.*510C>T (n.*510C>T)
c.631C>T (p.Leu211Phe)
c.514C>T (p.Leu172Phe)
8g.27463335G>CCA370809465CHRNA2c.1108C>G (p.Leu370Val)
c.1063C>G (p.Leu355Val)
n.290-1581C>G
c.1042C>G (p.Leu348Val)
c.*510C>G (n.*510C>G)
c.631C>G (p.Leu211Val)
c.514C>G (p.Leu172Val)
8g.27463335G>TCA370809467CHRNA2c.1108C>A (p.Leu370Ile)
c.1063C>A (p.Leu355Ile)
n.290-1581C>A
c.1042C>A (p.Leu348Ile)
c.*510C>A (n.*510C>A)
c.631C>A (p.Leu211Ile)
c.514C>A (p.Leu172Ile)
8g.27463336G>ACA460186498CHRNA2c.1107C>T (p.Ala369=)
c.1062C>T (p.Ala354=)
n.290-1582C>T
c.1041C>T (p.Ala347=)
c.*509C>T (n.*509C>T)
c.630C>T (p.Ala210=)
c.513C>T (p.Ala171=)
dbSNP gnomAD v2 gnomAD v4
8g.27463336G>CCA460186499CHRNA2c.1107C>G (p.Ala369=)
c.1062C>G (p.Ala354=)
n.290-1582C>G
c.1041C>G (p.Ala347=)
c.*509C>G (n.*509C>G)
c.630C>G (p.Ala210=)
c.513C>G (p.Ala171=)
8g.27463336G=CA1772813915CHRNA2c.1107C= (p.Ala369=)
c.1062C= (p.Ala354=)
n.290-1582C=
c.1041C= (p.Ala347=)
c.*509C= (n.*509C=)
c.630C= (p.Ala210=)
c.513C= (p.Ala171=)
8g.27463336G>TCA460186500CHRNA2c.1107C>A (p.Ala369=)
c.1062C>A (p.Ala354=)
n.290-1582C>A
c.1041C>A (p.Ala347=)
c.*509C>A (n.*509C>A)
c.630C>A (p.Ala210=)
c.513C>A (p.Ala171=)
8g.27463337G>ACA370809469CHRNA2c.1106C>T (p.Ala369Val)
c.1061C>T (p.Ala354Val)
n.290-1583C>T
c.1040C>T (p.Ala347Val)
c.*508C>T (n.*508C>T)
c.629C>T (p.Ala210Val)
c.512C>T (p.Ala171Val)
8g.27463337G>CCA370809470CHRNA2c.1106C>G (p.Ala369Gly)
c.1061C>G (p.Ala354Gly)
n.290-1583C>G
c.1040C>G (p.Ala347Gly)
c.*508C>G (n.*508C>G)
c.629C>G (p.Ala210Gly)
c.512C>G (p.Ala171Gly)
8g.27463337G>TCA370809468CHRNA2c.1106C>A (p.Ala369Asp)
c.1061C>A (p.Ala354Asp)
n.290-1583C>A
c.1040C>A (p.Ala347Asp)
c.*508C>A (n.*508C>A)
c.629C>A (p.Ala210Asp)
c.512C>A (p.Ala171Asp)
gnomAD v4
8g.27463337_27463338delinsGCCA1772813916CHRNA2c.1105_1106delinsGC (p.Ala369=)
c.1060_1061delinsGC (p.Ala354=)
n.290-1584_290-1583delinsGC
c.1039_1040delinsGC (p.Ala347=)
c.*507_*508delinsGC (n.*507_*508delinsGC)
c.628_629delinsGC (p.Ala210=)
c.511_512delinsGC (p.Ala171=)
8g.27463338C>ACA370809472CHRNA2c.1105G>T (p.Ala369Ser)
c.1060G>T (p.Ala354Ser)
n.290-1584G>T
c.1039G>T (p.Ala347Ser)
c.*507G>T (n.*507G>T)
c.628G>T (p.Ala210Ser)
c.511G>T (p.Ala171Ser)
8g.27463338C=CA1772813924CHRNA2c.1105G= (p.Ala369=)
c.1060G= (p.Ala354=)
n.290-1584G=
c.1039G= (p.Ala347=)
c.*507G= (n.*507G=)
c.628G= (p.Ala210=)
c.511G= (p.Ala171=)
8g.27463338C>GCA370809475CHRNA2c.1105G>C (p.Ala369Pro)
c.1060G>C (p.Ala354Pro)
n.290-1584G>C
c.1039G>C (p.Ala347Pro)
c.*507G>C (n.*507G>C)
c.628G>C (p.Ala210Pro)
c.511G>C (p.Ala171Pro)
dbSNP gnomAD v2 gnomAD v4
8g.27463338C>TCA4689526CHRNA2c.1105G>A (p.Ala369Thr)
c.1060G>A (p.Ala354Thr)
n.290-1584G>A
c.1039G>A (p.Ala347Thr)
c.*507G>A (n.*507G>A)
c.628G>A (p.Ala210Thr)
c.511G>A (p.Ala171Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463343dupCA4689525CHRNA2c.1105dup (p.Ala369GlyfsTer?)
c.1060dup (p.Ala354GlyfsTer?)
n.290-1584dup
c.1039dup (p.Ala347GlyfsTer?)
c.*507dup (n.*507dup)
c.628dup (p.Ala210GlyfsTer?)
c.511dup (p.Ala171GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.27463343delCA1112160499CHRNA2c.1105del (p.Ala369ProfsTer11)
c.1060del (p.Ala354ProfsTer11)
n.290-1584del
c.1039del (p.Ala347ProfsTer11)
c.*507del (n.*507del)
c.628del (p.Ala210ProfsTer11)
c.511del (p.Ala171ProfsTer11)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463338_27463339insGCA460186506CHRNA2c.1104_1105insC (p.Ala369ArgfsTer?)
c.1059_1060insC (p.Ala354ArgfsTer?)
n.290-1585_290-1584insC
c.1038_1039insC (p.Ala347ArgfsTer?)
c.*506_*507insC (n.*506_*507insC)
c.627_628insC (p.Ala210ArgfsTer?)
c.510_511insC (p.Ala171ArgfsTer?)
8g.27463339C>ACA460186508CHRNA2c.1104G>T (p.Gly368=)
c.1059G>T (p.Gly353=)
n.290-1585G>T
c.1038G>T (p.Gly346=)
c.*506G>T (n.*506G>T)
c.627G>T (p.Gly209=)
c.510G>T (p.Gly170=)
8g.27463339C>GCA460186509CHRNA2c.1104G>C (p.Gly368=)
c.1059G>C (p.Gly353=)
n.290-1585G>C
c.1038G>C (p.Gly346=)
c.*506G>C (n.*506G>C)
c.627G>C (p.Gly209=)
c.510G>C (p.Gly170=)
8g.27463339C>TCA460186510CHRNA2c.1104G>A (p.Gly368=)
c.1059G>A (p.Gly353=)
n.290-1585G>A
c.1038G>A (p.Gly346=)
c.*506G>A (n.*506G>A)
c.627G>A (p.Gly209=)
c.510G>A (p.Gly170=)
ClinVar dbSNP gnomAD v4
8g.27463340C>ACA4689527CHRNA2c.1103G>T (p.Gly368Val)
c.1058G>T (p.Gly353Val)
n.290-1586G>T
c.1037G>T (p.Gly346Val)
c.*505G>T (n.*505G>T)
c.626G>T (p.Gly209Val)
c.509G>T (p.Gly170Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463340C=CA1772813929CHRNA2c.1103G= (p.Gly368=)
c.1058G= (p.Gly353=)
n.290-1586G=
c.1037G= (p.Gly346=)
c.*505G= (n.*505G=)
c.626G= (p.Gly209=)
c.509G= (p.Gly170=)
8g.27463340C>GCA370809477CHRNA2c.1103G>C (p.Gly368Ala)
c.1058G>C (p.Gly353Ala)
n.290-1586G>C
c.1037G>C (p.Gly346Ala)
c.*505G>C (n.*505G>C)
c.626G>C (p.Gly209Ala)
c.509G>C (p.Gly170Ala)
8g.27463340C>TCA370809479CHRNA2c.1103G>A (p.Gly368Glu)
c.1058G>A (p.Gly353Glu)
n.290-1586G>A
c.1037G>A (p.Gly346Glu)
c.*505G>A (n.*505G>A)
c.626G>A (p.Gly209Glu)
c.509G>A (p.Gly170Glu)
gnomAD v4 COSMIC
8g.27463341C>ACA370809480CHRNA2c.1102G>T (p.Gly368Trp)
c.1057G>T (p.Gly353Trp)
n.290-1587G>T
c.1036G>T (p.Gly346Trp)
c.*504G>T (n.*504G>T)
c.625G>T (p.Gly209Trp)
c.508G>T (p.Gly170Trp)
8g.27463341C>GCA370809481CHRNA2c.1102G>C (p.Gly368Arg)
c.1057G>C (p.Gly353Arg)
n.290-1587G>C
c.1036G>C (p.Gly346Arg)
c.*504G>C (n.*504G>C)
c.625G>C (p.Gly209Arg)
c.508G>C (p.Gly170Arg)
8g.27463341C>TCA370809482CHRNA2c.1102G>A (p.Gly368Arg)
c.1057G>A (p.Gly353Arg)
n.290-1587G>A
c.1036G>A (p.Gly346Arg)
c.*504G>A (n.*504G>A)
c.625G>A (p.Gly209Arg)
c.508G>A (p.Gly170Arg)
gnomAD v4
8g.27463342C>ACA460186512CHRNA2c.1101G>T (p.Arg367=)
c.1056G>T (p.Arg352=)
n.290-1588G>T
c.1035G>T (p.Arg345=)
c.*503G>T (n.*503G>T)
c.624G>T (p.Arg208=)
c.507G>T (p.Arg169=)
8g.27463342C=CA1772813934CHRNA2c.1101G= (p.Arg367=)
c.1056G= (p.Arg352=)
n.290-1588G=
c.1035G= (p.Arg345=)
c.*503G= (n.*503G=)
c.624G= (p.Arg208=)
c.507G= (p.Arg169=)
8g.27463342C>GCA460186513CHRNA2c.1101G>C (p.Arg367=)
c.1056G>C (p.Arg352=)
n.290-1588G>C
c.1035G>C (p.Arg345=)
c.*503G>C (n.*503G>C)
c.624G>C (p.Arg208=)
c.507G>C (p.Arg169=)
8g.27463342C>TCA4689528CHRNA2c.1101G>A (p.Arg367=)
c.1056G>A (p.Arg352=)
n.290-1588G>A
c.1035G>A (p.Arg345=)
c.*503G>A (n.*503G>A)
c.624G>A (p.Arg208=)
c.507G>A (p.Arg169=)
dbSNP ExAC gnomAD v2
8g.27463343C>ACA370809485CHRNA2c.1100G>T (p.Arg367Leu)
c.1055G>T (p.Arg352Leu)
n.290-1589G>T
c.1034G>T (p.Arg345Leu)
c.*502G>T (n.*502G>T)
c.623G>T (p.Arg208Leu)
c.506G>T (p.Arg169Leu)
8g.27463343C=CA1772813941CHRNA2c.1100G= (p.Arg367=)
c.1055G= (p.Arg352=)
n.290-1589G=
c.1034G= (p.Arg345=)
c.*502G= (n.*502G=)
c.623G= (p.Arg208=)
c.506G= (p.Arg169=)
8g.27463343C>GCA4689530CHRNA2c.1100G>C (p.Arg367Pro)
c.1055G>C (p.Arg352Pro)
n.290-1589G>C
c.1034G>C (p.Arg345Pro)
c.*502G>C (n.*502G>C)
c.623G>C (p.Arg208Pro)
c.506G>C (p.Arg169Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463343C>TCA4689529CHRNA2c.1100G>A (p.Arg367Gln)
c.1055G>A (p.Arg352Gln)
n.290-1589G>A
c.1034G>A (p.Arg345Gln)
c.*502G>A (n.*502G>A)
c.623G>A (p.Arg208Gln)
c.506G>A (p.Arg169Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463344G>ACA4689531CHRNA2c.1099C>T (p.Arg367Trp)
c.1054C>T (p.Arg352Trp)
n.290-1590C>T
c.1033C>T (p.Arg345Trp)
c.*501C>T (n.*501C>T)
c.622C>T (p.Arg208Trp)
c.505C>T (p.Arg169Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463344G>CCA370809488CHRNA2c.1099C>G (p.Arg367Gly)
c.1054C>G (p.Arg352Gly)
n.290-1590C>G
c.1033C>G (p.Arg345Gly)
c.*501C>G (n.*501C>G)
c.622C>G (p.Arg208Gly)
c.505C>G (p.Arg169Gly)
dbSNP gnomAD v2
8g.27463344G=CA1772813948CHRNA2c.1099C= (p.Arg367=)
c.1054C= (p.Arg352=)
n.290-1590C=
c.1033C= (p.Arg345=)
c.*501C= (n.*501C=)
c.622C= (p.Arg208=)
c.505C= (p.Arg169=)
8g.27463344G>TCA4689532CHRNA2c.1099C>A (p.Arg367=)
c.1054C>A (p.Arg352=)
n.290-1590C>A
c.1033C>A (p.Arg345=)
c.*501C>A (n.*501C>A)
c.622C>A (p.Arg208=)
c.505C>A (p.Arg169=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463345C>ACA460186518CHRNA2c.1098G>T (p.Val366=)
c.1053G>T (p.Val351=)
n.290-1591G>T
c.1032G>T (p.Val344=)
c.*500G>T (n.*500G>T)
c.621G>T (p.Val207=)
c.504G>T (p.Val168=)
8g.27463345C=CA1772813956CHRNA2c.1098G= (p.Val366=)
c.1053G= (p.Val351=)
n.290-1591G=
c.1032G= (p.Val344=)
c.*500G= (n.*500G=)
c.621G= (p.Val207=)
c.504G= (p.Val168=)
8g.27463345C>GCA460186519CHRNA2c.1098G>C (p.Val366=)
c.1053G>C (p.Val351=)
n.290-1591G>C
c.1032G>C (p.Val344=)
c.*500G>C (n.*500G>C)
c.621G>C (p.Val207=)
c.504G>C (p.Val168=)
8g.27463345C>TCA4689533CHRNA2c.1098G>A (p.Val366=)
c.1053G>A (p.Val351=)
n.290-1591G>A
c.1032G>A (p.Val344=)
c.*500G>A (n.*500G>A)
c.621G>A (p.Val207=)
c.504G>A (p.Val168=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463346A=CA1772813958CHRNA2c.1097T= (p.Val366=)
c.1052T= (p.Val351=)
n.290-1592T=
c.1031T= (p.Val344=)
c.*499T= (n.*499T=)
c.620T= (p.Val207=)
c.503T= (p.Val168=)
8g.27463346A>CCA370809493CHRNA2c.1097T>G (p.Val366Gly)
c.1052T>G (p.Val351Gly)
n.290-1592T>G
c.1031T>G (p.Val344Gly)
c.*499T>G (n.*499T>G)
c.620T>G (p.Val207Gly)
c.503T>G (p.Val168Gly)
dbSNP gnomAD v2
8g.27463346A>GCA370809491CHRNA2c.1097T>C (p.Val366Ala)
c.1052T>C (p.Val351Ala)
n.290-1592T>C
c.1031T>C (p.Val344Ala)
c.*499T>C (n.*499T>C)
c.620T>C (p.Val207Ala)
c.503T>C (p.Val168Ala)
8g.27463346A>TCA370809490CHRNA2c.1097T>A (p.Val366Glu)
c.1052T>A (p.Val351Glu)
n.290-1592T>A
c.1031T>A (p.Val344Glu)
c.*499T>A (n.*499T>A)
c.620T>A (p.Val207Glu)
c.503T>A (p.Val168Glu)
8g.27463347C>ACA370809495CHRNA2c.1096G>T (p.Val366Leu)
c.1051G>T (p.Val351Leu)
n.290-1593G>T
c.1030G>T (p.Val344Leu)
c.*498G>T (n.*498G>T)
c.619G>T (p.Val207Leu)
c.502G>T (p.Val168Leu)
8g.27463347C=CA1772813961CHRNA2c.1096G= (p.Val366=)
c.1051G= (p.Val351=)
n.290-1593G=
c.1030G= (p.Val344=)
c.*498G= (n.*498G=)
c.619G= (p.Val207=)
c.502G= (p.Val168=)
8g.27463347C>GCA370809497CHRNA2c.1096G>C (p.Val366Leu)
c.1051G>C (p.Val351Leu)
n.290-1593G>C
c.1030G>C (p.Val344Leu)
c.*498G>C (n.*498G>C)
c.619G>C (p.Val207Leu)
c.502G>C (p.Val168Leu)
dbSNP gnomAD v3 gnomAD v4
8g.27463347C>TCA370809498CHRNA2c.1096G>A (p.Val366Met)
c.1051G>A (p.Val351Met)
n.290-1593G>A
c.1030G>A (p.Val344Met)
c.*498G>A (n.*498G>A)
c.619G>A (p.Val207Met)
c.502G>A (p.Val168Met)
8g.27463348C>ACA370809499CHRNA2c.1095G>T (p.Trp365Cys)
c.1050G>T (p.Trp350Cys)
n.290-1594G>T
c.1029G>T (p.Trp343Cys)
c.*497G>T (n.*497G>T)
c.618G>T (p.Trp206Cys)
c.501G>T (p.Trp167Cys)
gnomAD v4
8g.27463348C=CA1772813964CHRNA2c.1095G= (p.Trp365=)
c.1050G= (p.Trp350=)
n.290-1594G=
c.1029G= (p.Trp343=)
c.*497G= (n.*497G=)
c.618G= (p.Trp206=)
c.501G= (p.Trp167=)
8g.27463348C>GCA370809501CHRNA2c.1095G>C (p.Trp365Cys)
c.1050G>C (p.Trp350Cys)
n.290-1594G>C
c.1029G>C (p.Trp343Cys)
c.*497G>C (n.*497G>C)
c.618G>C (p.Trp206Cys)
c.501G>C (p.Trp167Cys)
8g.27463348C>TCA4689534CHRNA2c.1095G>A (p.Trp365Ter)
c.1050G>A (p.Trp350Ter)
n.290-1594G>A
c.1029G>A (p.Trp343Ter)
c.*497G>A (n.*497G>A)
c.618G>A (p.Trp206Ter)
c.501G>A (p.Trp167Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.27463349C>ACA370809503CHRNA2c.1094G>T (p.Trp365Leu)
c.1049G>T (p.Trp350Leu)
n.290-1595G>T
c.1028G>T (p.Trp343Leu)
c.*496G>T (n.*496G>T)
c.617G>T (p.Trp206Leu)
c.500G>T (p.Trp167Leu)
8g.27463349C>GCA370809505CHRNA2c.1094G>C (p.Trp365Ser)
c.1049G>C (p.Trp350Ser)
n.290-1595G>C
c.1028G>C (p.Trp343Ser)
c.*496G>C (n.*496G>C)
c.617G>C (p.Trp206Ser)
c.500G>C (p.Trp167Ser)
8g.27463349C>TCA370809506CHRNA2c.1094G>A (p.Trp365Ter)
c.1049G>A (p.Trp350Ter)
n.290-1595G>A
c.1028G>A (p.Trp343Ter)
c.*496G>A (n.*496G>A)
c.617G>A (p.Trp206Ter)
c.500G>A (p.Trp167Ter)
ClinVar dbSNP gnomAD v4

Number of alleles fetched