Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.27463078C>ACA4689473CHRNA2c.1365G>T (p.Leu455=)
c.1320G>T (p.Leu440=)
n.290-1324G>T
c.1299G>T (p.Leu433=)
c.*767G>T (n.*767G>T)
c.888G>T (p.Leu296=)
c.771G>T (p.Leu257=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463078C=CA1772813378CHRNA2c.1365G= (p.Leu455=)
c.1320G= (p.Leu440=)
n.290-1324G=
c.1299G= (p.Leu433=)
c.*767G= (n.*767G=)
c.888G= (p.Leu296=)
c.771G= (p.Leu257=)
8g.27463078C>GCA460046670CHRNA2c.1365G>C (p.Leu455=)
c.1320G>C (p.Leu440=)
n.290-1324G>C
c.1299G>C (p.Leu433=)
c.*767G>C (n.*767G>C)
c.888G>C (p.Leu296=)
c.771G>C (p.Leu257=)
8g.27463078C>TCA460046671CHRNA2c.1365G>A (p.Leu455=)
c.1320G>A (p.Leu440=)
n.290-1324G>A
c.1299G>A (p.Leu433=)
c.*767G>A (n.*767G>A)
c.888G>A (p.Leu296=)
c.771G>A (p.Leu257=)
ClinVar dbSNP
8g.27463079A=CA1772813382CHRNA2c.1364T= (p.Leu455=)
c.1319T= (p.Leu440=)
n.290-1325T=
c.1298T= (p.Leu433=)
c.*766T= (n.*766T=)
c.887T= (p.Leu296=)
c.770T= (p.Leu257=)
8g.27463079A>CCA370808102CHRNA2c.1364T>G (p.Leu455Arg)
c.1319T>G (p.Leu440Arg)
n.290-1325T>G
c.1298T>G (p.Leu433Arg)
c.*766T>G (n.*766T>G)
c.887T>G (p.Leu296Arg)
c.770T>G (p.Leu257Arg)
8g.27463079A>GCA370808105CHRNA2c.1364T>C (p.Leu455Pro)
c.1319T>C (p.Leu440Pro)
n.290-1325T>C
c.1298T>C (p.Leu433Pro)
c.*766T>C (n.*766T>C)
c.887T>C (p.Leu296Pro)
c.770T>C (p.Leu257Pro)
ClinVar dbSNP gnomAD v4
8g.27463079A>TCA370808107CHRNA2c.1364T>A (p.Leu455Gln)
c.1319T>A (p.Leu440Gln)
n.290-1325T>A
c.1298T>A (p.Leu433Gln)
c.*766T>A (n.*766T>A)
c.887T>A (p.Leu296Gln)
c.770T>A (p.Leu257Gln)
8g.27463080G>ACA460046672CHRNA2c.1363C>T (p.Leu455=)
c.1318C>T (p.Leu440=)
n.290-1326C>T
c.1297C>T (p.Leu433=)
c.*765C>T (n.*765C>T)
c.886C>T (p.Leu296=)
c.769C>T (p.Leu257=)
8g.27463080G>CCA370808109CHRNA2c.1363C>G (p.Leu455Val)
c.1318C>G (p.Leu440Val)
n.290-1326C>G
c.1297C>G (p.Leu433Val)
c.*765C>G (n.*765C>G)
c.886C>G (p.Leu296Val)
c.769C>G (p.Leu257Val)
8g.27463080G>TCA370808110CHRNA2c.1363C>A (p.Leu455Met)
c.1318C>A (p.Leu440Met)
n.290-1326C>A
c.1297C>A (p.Leu433Met)
c.*765C>A (n.*765C>A)
c.886C>A (p.Leu296Met)
c.769C>A (p.Leu257Met)
8g.27463081C>ACA460046673CHRNA2c.1362G>T (p.Leu454=)
c.1317G>T (p.Leu439=)
n.290-1327G>T
c.1296G>T (p.Leu432=)
c.*764G>T (n.*764G>T)
c.885G>T (p.Leu295=)
c.768G>T (p.Leu256=)
8g.27463081C>GCA460046675CHRNA2c.1362G>C (p.Leu454=)
c.1317G>C (p.Leu439=)
n.290-1327G>C
c.1296G>C (p.Leu432=)
c.*764G>C (n.*764G>C)
c.885G>C (p.Leu295=)
c.768G>C (p.Leu256=)
8g.27463081C>TCA460046674CHRNA2c.1362G>A (p.Leu454=)
c.1317G>A (p.Leu439=)
n.290-1327G>A
c.1296G>A (p.Leu432=)
c.*764G>A (n.*764G>A)
c.885G>A (p.Leu295=)
c.768G>A (p.Leu256=)
ClinVar
8g.27463082A=CA1772813384CHRNA2c.1361T= (p.Leu454=)
c.1316T= (p.Leu439=)
n.290-1328T=
c.1295T= (p.Leu432=)
c.*763T= (n.*763T=)
c.884T= (p.Leu295=)
c.767T= (p.Leu256=)
8g.27463082A>CCA370808117CHRNA2c.1361T>G (p.Leu454Arg)
c.1316T>G (p.Leu439Arg)
n.290-1328T>G
c.1295T>G (p.Leu432Arg)
c.*763T>G (n.*763T>G)
c.884T>G (p.Leu295Arg)
c.767T>G (p.Leu256Arg)
8g.27463082A>GCA174238448CHRNA2c.1361T>C (p.Leu454Pro)
c.1316T>C (p.Leu439Pro)
n.290-1328T>C
c.1295T>C (p.Leu432Pro)
c.*763T>C (n.*763T>C)
c.884T>C (p.Leu295Pro)
c.767T>C (p.Leu256Pro)
dbSNP
8g.27463082A>TCA370808116CHRNA2c.1361T>A (p.Leu454Gln)
c.1316T>A (p.Leu439Gln)
n.290-1328T>A
c.1295T>A (p.Leu432Gln)
c.*763T>A (n.*763T>A)
c.884T>A (p.Leu295Gln)
c.767T>A (p.Leu256Gln)
8g.27463082dupCA2579127521CHRNA2c.1361dup (p.Leu455AlafsTer5)
c.1316dup (p.Leu440AlafsTer5)
n.290-1328dup
c.1295dup (p.Leu433AlafsTer5)
c.*763dup (n.*763dup)
c.884dup (p.Leu296AlafsTer5)
c.767dup (p.Leu257AlafsTer5)
8g.27463083G>ACA460046676CHRNA2c.1360C>T (p.Leu454=)
c.1315C>T (p.Leu439=)
n.290-1329C>T
c.1294C>T (p.Leu432=)
c.*762C>T (n.*762C>T)
c.883C>T (p.Leu295=)
c.766C>T (p.Leu256=)
gnomAD v4
8g.27463083G>CCA370808118CHRNA2c.1360C>G (p.Leu454Val)
c.1315C>G (p.Leu439Val)
n.290-1329C>G
c.1294C>G (p.Leu432Val)
c.*762C>G (n.*762C>G)
c.883C>G (p.Leu295Val)
c.766C>G (p.Leu256Val)
gnomAD v4
8g.27463083G>TCA370808119CHRNA2c.1360C>A (p.Leu454Met)
c.1315C>A (p.Leu439Met)
n.290-1329C>A
c.1294C>A (p.Leu432Met)
c.*762C>A (n.*762C>A)
c.883C>A (p.Leu295Met)
c.766C>A (p.Leu256Met)
8g.27463084A>CCA460046677CHRNA2c.1359T>G (p.Ala453=)
c.1314T>G (p.Ala438=)
n.290-1330T>G
c.1293T>G (p.Ala431=)
c.*761T>G (n.*761T>G)
c.882T>G (p.Ala294=)
c.765T>G (p.Ala255=)
8g.27463084A>GCA460046678CHRNA2c.1359T>C (p.Ala453=)
c.1314T>C (p.Ala438=)
n.290-1330T>C
c.1293T>C (p.Ala431=)
c.*761T>C (n.*761T>C)
c.882T>C (p.Ala294=)
c.765T>C (p.Ala255=)
8g.27463084A>TCA460046679CHRNA2c.1359T>A (p.Ala453=)
c.1314T>A (p.Ala438=)
n.290-1330T>A
c.1293T>A (p.Ala431=)
c.*761T>A (n.*761T>A)
c.882T>A (p.Ala294=)
c.765T>A (p.Ala255=)
8g.27463085G>ACA370808120CHRNA2c.1358C>T (p.Ala453Val)
c.1313C>T (p.Ala438Val)
n.290-1331C>T
c.1292C>T (p.Ala431Val)
c.*760C>T (n.*760C>T)
c.881C>T (p.Ala294Val)
c.764C>T (p.Ala255Val)
COSMIC
8g.27463085G>CCA370808121CHRNA2c.1358C>G (p.Ala453Gly)
c.1313C>G (p.Ala438Gly)
n.290-1331C>G
c.1292C>G (p.Ala431Gly)
c.*760C>G (n.*760C>G)
c.881C>G (p.Ala294Gly)
c.764C>G (p.Ala255Gly)
8g.27463085G>TCA370808127CHRNA2c.1358C>A (p.Ala453Asp)
c.1313C>A (p.Ala438Asp)
n.290-1331C>A
c.1292C>A (p.Ala431Asp)
c.*760C>A (n.*760C>A)
c.881C>A (p.Ala294Asp)
c.764C>A (p.Ala255Asp)
8g.27463086C>ACA370808129CHRNA2c.1357G>T (p.Ala453Ser)
c.1312G>T (p.Ala438Ser)
n.290-1332G>T
c.1291G>T (p.Ala431Ser)
c.*759G>T (n.*759G>T)
c.880G>T (p.Ala294Ser)
c.763G>T (p.Ala255Ser)
8g.27463086C>GCA370808132CHRNA2c.1357G>C (p.Ala453Pro)
c.1312G>C (p.Ala438Pro)
n.290-1332G>C
c.1291G>C (p.Ala431Pro)
c.*759G>C (n.*759G>C)
c.880G>C (p.Ala294Pro)
c.763G>C (p.Ala255Pro)
8g.27463086C>TCA370808130CHRNA2c.1357G>A (p.Ala453Thr)
c.1312G>A (p.Ala438Thr)
n.290-1332G>A
c.1291G>A (p.Ala431Thr)
c.*759G>A (n.*759G>A)
c.880G>A (p.Ala294Thr)
c.763G>A (p.Ala255Thr)
8g.27463087C>ACA370808134CHRNA2c.1356G>T (p.Glu452Asp)
c.1311G>T (p.Glu437Asp)
n.290-1333G>T
c.1290G>T (p.Glu430Asp)
c.*758G>T (n.*758G>T)
c.879G>T (p.Glu293Asp)
c.762G>T (p.Glu254Asp)
8g.27463087C>GCA370808136CHRNA2c.1356G>C (p.Glu452Asp)
c.1311G>C (p.Glu437Asp)
n.290-1333G>C
c.1290G>C (p.Glu430Asp)
c.*758G>C (n.*758G>C)
c.879G>C (p.Glu293Asp)
c.762G>C (p.Glu254Asp)
8g.27463087C>TCA460046680CHRNA2c.1356G>A (p.Glu452=)
c.1311G>A (p.Glu437=)
n.290-1333G>A
c.1290G>A (p.Glu430=)
c.*758G>A (n.*758G>A)
c.879G>A (p.Glu293=)
c.762G>A (p.Glu254=)
8g.27463088T>ACA370808140CHRNA2c.1355A>T (p.Glu452Val)
c.1310A>T (p.Glu437Val)
n.290-1334A>T
c.1289A>T (p.Glu430Val)
c.*757A>T (n.*757A>T)
c.878A>T (p.Glu293Val)
c.761A>T (p.Glu254Val)
8g.27463088T>CCA370808141CHRNA2c.1355A>G (p.Glu452Gly)
c.1310A>G (p.Glu437Gly)
n.290-1334A>G
c.1289A>G (p.Glu430Gly)
c.*757A>G (n.*757A>G)
c.878A>G (p.Glu293Gly)
c.761A>G (p.Glu254Gly)
8g.27463088T>GCA370808144CHRNA2c.1355A>C (p.Glu452Ala)
c.1310A>C (p.Glu437Ala)
n.290-1334A>C
c.1289A>C (p.Glu430Ala)
c.*757A>C (n.*757A>C)
c.878A>C (p.Glu293Ala)
c.761A>C (p.Glu254Ala)
8g.27463089C>ACA4689474CHRNA2c.1354G>T (p.Glu452Ter)
c.1309G>T (p.Glu437Ter)
n.290-1335G>T
c.1288G>T (p.Glu430Ter)
c.*756G>T (n.*756G>T)
c.877G>T (p.Glu293Ter)
c.760G>T (p.Glu254Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463089C=CA1772813390CHRNA2c.1354G= (p.Glu452=)
c.1309G= (p.Glu437=)
n.290-1335G=
c.1288G= (p.Glu430=)
c.*756G= (n.*756G=)
c.877G= (p.Glu293=)
c.760G= (p.Glu254=)
8g.27463089C>GCA370808147CHRNA2c.1354G>C (p.Glu452Gln)
c.1309G>C (p.Glu437Gln)
n.290-1335G>C
c.1288G>C (p.Glu430Gln)
c.*756G>C (n.*756G>C)
c.877G>C (p.Glu293Gln)
c.760G>C (p.Glu254Gln)
8g.27463089C>TCA370808149CHRNA2c.1354G>A (p.Glu452Lys)
c.1309G>A (p.Glu437Lys)
n.290-1335G>A
c.1288G>A (p.Glu430Lys)
c.*756G>A (n.*756G>A)
c.877G>A (p.Glu293Lys)
c.760G>A (p.Glu254Lys)
ClinVar dbSNP
8g.27463090A>CCA460046683CHRNA2c.1353T>G (p.Ala451=)
c.1308T>G (p.Ala436=)
n.290-1336T>G
c.1287T>G (p.Ala429=)
c.*755T>G (n.*755T>G)
c.876T>G (p.Ala292=)
c.759T>G (p.Ala253=)
8g.27463090A>GCA460046682CHRNA2c.1353T>C (p.Ala451=)
c.1308T>C (p.Ala436=)
n.290-1336T>C
c.1287T>C (p.Ala429=)
c.*755T>C (n.*755T>C)
c.876T>C (p.Ala292=)
c.759T>C (p.Ala253=)
8g.27463090A>TCA460046681CHRNA2c.1353T>A (p.Ala451=)
c.1308T>A (p.Ala436=)
n.290-1336T>A
c.1287T>A (p.Ala429=)
c.*755T>A (n.*755T>A)
c.876T>A (p.Ala292=)
c.759T>A (p.Ala253=)
8g.27463091G>ACA4689475CHRNA2c.1352C>T (p.Ala451Val)
c.1307C>T (p.Ala436Val)
n.290-1337C>T
c.1286C>T (p.Ala429Val)
c.*754C>T (n.*754C>T)
c.875C>T (p.Ala292Val)
c.758C>T (p.Ala253Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463091G>CCA370808152CHRNA2c.1352C>G (p.Ala451Gly)
c.1307C>G (p.Ala436Gly)
n.290-1337C>G
c.1286C>G (p.Ala429Gly)
c.*754C>G (n.*754C>G)
c.875C>G (p.Ala292Gly)
c.758C>G (p.Ala253Gly)
8g.27463091G=CA1772813398CHRNA2c.1352C= (p.Ala451=)
c.1307C= (p.Ala436=)
n.290-1337C=
c.1286C= (p.Ala429=)
c.*754C= (n.*754C=)
c.875C= (p.Ala292=)
c.758C= (p.Ala253=)
8g.27463091G>TCA370808153CHRNA2c.1352C>A (p.Ala451Asp)
c.1307C>A (p.Ala436Asp)
n.290-1337C>A
c.1286C>A (p.Ala429Asp)
c.*754C>A (n.*754C>A)
c.875C>A (p.Ala292Asp)
c.758C>A (p.Ala253Asp)
8g.27463092C>ACA370808156CHRNA2c.1351G>T (p.Ala451Ser)
c.1306G>T (p.Ala436Ser)
n.290-1338G>T
c.1285G>T (p.Ala429Ser)
c.*753G>T (n.*753G>T)
c.874G>T (p.Ala292Ser)
c.757G>T (p.Ala253Ser)
8g.27463092C>GCA370808160CHRNA2c.1351G>C (p.Ala451Pro)
c.1306G>C (p.Ala436Pro)
n.290-1338G>C
c.1285G>C (p.Ala429Pro)
c.*753G>C (n.*753G>C)
c.874G>C (p.Ala292Pro)
c.757G>C (p.Ala253Pro)
8g.27463092C>TCA370808158CHRNA2c.1351G>A (p.Ala451Thr)
c.1306G>A (p.Ala436Thr)
n.290-1338G>A
c.1285G>A (p.Ala429Thr)
c.*753G>A (n.*753G>A)
c.874G>A (p.Ala292Thr)
c.757G>A (p.Ala253Thr)
COSMIC
8g.27463093C>ACA370808162CHRNA2c.1350G>T (p.Lys450Asn)
c.1305G>T (p.Lys435Asn)
n.290-1339G>T
c.1284G>T (p.Lys428Asn)
c.*752G>T (n.*752G>T)
c.873G>T (p.Lys291Asn)
c.756G>T (p.Lys252Asn)
ClinVar gnomAD v4
8g.27463093C>GCA370808164CHRNA2c.1350G>C (p.Lys450Asn)
c.1305G>C (p.Lys435Asn)
n.290-1339G>C
c.1284G>C (p.Lys428Asn)
c.*752G>C (n.*752G>C)
c.873G>C (p.Lys291Asn)
c.756G>C (p.Lys252Asn)
8g.27463093C>TCA460046684CHRNA2c.1350G>A (p.Lys450=)
c.1305G>A (p.Lys435=)
n.290-1339G>A
c.1284G>A (p.Lys428=)
c.*752G>A (n.*752G>A)
c.873G>A (p.Lys291=)
c.756G>A (p.Lys252=)
8g.27463094T>ACA370808166CHRNA2c.1349A>T (p.Lys450Met)
c.1304A>T (p.Lys435Met)
n.290-1340A>T
c.1283A>T (p.Lys428Met)
c.*751A>T (n.*751A>T)
c.872A>T (p.Lys291Met)
c.755A>T (p.Lys252Met)
8g.27463094T>CCA370808167CHRNA2c.1349A>G (p.Lys450Arg)
c.1304A>G (p.Lys435Arg)
n.290-1340A>G
c.1283A>G (p.Lys428Arg)
c.*751A>G (n.*751A>G)
c.872A>G (p.Lys291Arg)
c.755A>G (p.Lys252Arg)
8g.27463094T>GCA370808170CHRNA2c.1349A>C (p.Lys450Thr)
c.1304A>C (p.Lys435Thr)
n.290-1340A>C
c.1283A>C (p.Lys428Thr)
c.*751A>C (n.*751A>C)
c.872A>C (p.Lys291Thr)
c.755A>C (p.Lys252Thr)
8g.27463095T>ACA370808176CHRNA2c.1348A>T (p.Lys450Ter)
c.1303A>T (p.Lys435Ter)
n.290-1341A>T
c.1282A>T (p.Lys428Ter)
c.*750A>T (n.*750A>T)
c.871A>T (p.Lys291Ter)
c.754A>T (p.Lys252Ter)
8g.27463095T>CCA370808174CHRNA2c.1348A>G (p.Lys450Glu)
c.1303A>G (p.Lys435Glu)
n.290-1341A>G
c.1282A>G (p.Lys428Glu)
c.*750A>G (n.*750A>G)
c.871A>G (p.Lys291Glu)
c.754A>G (p.Lys252Glu)
8g.27463095T>GCA370808173CHRNA2c.1348A>C (p.Lys450Gln)
c.1303A>C (p.Lys435Gln)
n.290-1341A>C
c.1282A>C (p.Lys428Gln)
c.*750A>C (n.*750A>C)
c.871A>C (p.Lys291Gln)
c.754A>C (p.Lys252Gln)
8g.27463096G>ACA460046685CHRNA2c.1347C>T (p.Pro449=)
c.1302C>T (p.Pro434=)
n.290-1342C>T
c.1281C>T (p.Pro427=)
c.*749C>T (n.*749C>T)
c.870C>T (p.Pro290=)
c.753C>T (p.Pro251=)
8g.27463096G>CCA460046686CHRNA2c.1347C>G (p.Pro449=)
c.1302C>G (p.Pro434=)
n.290-1342C>G
c.1281C>G (p.Pro427=)
c.*749C>G (n.*749C>G)
c.870C>G (p.Pro290=)
c.753C>G (p.Pro251=)
8g.27463096G>TCA460046687CHRNA2c.1347C>A (p.Pro449=)
c.1302C>A (p.Pro434=)
n.290-1342C>A
c.1281C>A (p.Pro427=)
c.*749C>A (n.*749C>A)
c.870C>A (p.Pro290=)
c.753C>A (p.Pro251=)
8g.27463097G>ACA370808177CHRNA2c.1346C>T (p.Pro449Leu)
c.1301C>T (p.Pro434Leu)
n.290-1343C>T
c.1280C>T (p.Pro427Leu)
c.*748C>T (n.*748C>T)
c.869C>T (p.Pro290Leu)
c.752C>T (p.Pro251Leu)
8g.27463097G>CCA370808179CHRNA2c.1346C>G (p.Pro449Arg)
c.1301C>G (p.Pro434Arg)
n.290-1343C>G
c.1280C>G (p.Pro427Arg)
c.*748C>G (n.*748C>G)
c.869C>G (p.Pro290Arg)
c.752C>G (p.Pro251Arg)
ClinVar
8g.27463097G>TCA370808180CHRNA2c.1346C>A (p.Pro449His)
c.1301C>A (p.Pro434His)
n.290-1343C>A
c.1280C>A (p.Pro427His)
c.*748C>A (n.*748C>A)
c.869C>A (p.Pro290His)
c.752C>A (p.Pro251His)
8g.27463098G>ACA370808183CHRNA2c.1345C>T (p.Pro449Ser)
c.1300C>T (p.Pro434Ser)
n.290-1344C>T
c.1279C>T (p.Pro427Ser)
c.*747C>T (n.*747C>T)
c.868C>T (p.Pro290Ser)
c.751C>T (p.Pro251Ser)
ClinVar gnomAD v4
8g.27463098G>CCA370808185CHRNA2c.1345C>G (p.Pro449Ala)
c.1300C>G (p.Pro434Ala)
n.290-1344C>G
c.1279C>G (p.Pro427Ala)
c.*747C>G (n.*747C>G)
c.868C>G (p.Pro290Ala)
c.751C>G (p.Pro251Ala)
dbSNP
8g.27463098G=CA1772813404CHRNA2c.1345C= (p.Pro449=)
c.1300C= (p.Pro434=)
n.290-1344C=
c.1279C= (p.Pro427=)
c.*747C= (n.*747C=)
c.868C= (p.Pro290=)
c.751C= (p.Pro251=)
8g.27463098G>TCA370808187CHRNA2c.1345C>A (p.Pro449Thr)
c.1300C>A (p.Pro434Thr)
n.290-1344C>A
c.1279C>A (p.Pro427Thr)
c.*747C>A (n.*747C>A)
c.868C>A (p.Pro290Thr)
c.751C>A (p.Pro251Thr)
8g.27463099A>CCA460046688CHRNA2c.1344T>G (p.Gly448=)
c.1299T>G (p.Gly433=)
n.290-1345T>G
c.1278T>G (p.Gly426=)
c.*746T>G (n.*746T>G)
c.867T>G (p.Gly289=)
c.750T>G (p.Gly250=)
8g.27463099A>GCA460046689CHRNA2c.1344T>C (p.Gly448=)
c.1299T>C (p.Gly433=)
n.290-1345T>C
c.1278T>C (p.Gly426=)
c.*746T>C (n.*746T>C)
c.867T>C (p.Gly289=)
c.750T>C (p.Gly250=)
8g.27463099A>TCA460046690CHRNA2c.1344T>A (p.Gly448=)
c.1299T>A (p.Gly433=)
n.290-1345T>A
c.1278T>A (p.Gly426=)
c.*746T>A (n.*746T>A)
c.867T>A (p.Gly289=)
c.750T>A (p.Gly250=)
8g.27463100C>ACA370808854CHRNA2c.1343G>T (p.Gly448Val)
c.1298G>T (p.Gly433Val)
n.290-1346G>T
c.1277G>T (p.Gly426Val)
c.*745G>T (n.*745G>T)
c.866G>T (p.Gly289Val)
c.749G>T (p.Gly250Val)
gnomAD v4
8g.27463100C=CA1772813407CHRNA2c.1343G= (p.Gly448=)
c.1298G= (p.Gly433=)
n.290-1346G=
c.1277G= (p.Gly426=)
c.*745G= (n.*745G=)
c.866G= (p.Gly289=)
c.749G= (p.Gly250=)
8g.27463100C>GCA370808853CHRNA2c.1343G>C (p.Gly448Ala)
c.1298G>C (p.Gly433Ala)
n.290-1346G>C
c.1277G>C (p.Gly426Ala)
c.*745G>C (n.*745G>C)
c.866G>C (p.Gly289Ala)
c.749G>C (p.Gly250Ala)
8g.27463100C>TCA4689476CHRNA2c.1343G>A (p.Gly448Asp)
c.1298G>A (p.Gly433Asp)
n.290-1346G>A
c.1277G>A (p.Gly426Asp)
c.*745G>A (n.*745G>A)
c.866G>A (p.Gly289Asp)
c.749G>A (p.Gly250Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463101C>ACA370808855CHRNA2c.1342G>T (p.Gly448Cys)
c.1297G>T (p.Gly433Cys)
n.290-1347G>T
c.1276G>T (p.Gly426Cys)
c.*744G>T (n.*744G>T)
c.865G>T (p.Gly289Cys)
c.748G>T (p.Gly250Cys)
8g.27463101C>GCA370808856CHRNA2c.1342G>C (p.Gly448Arg)
c.1297G>C (p.Gly433Arg)
n.290-1347G>C
c.1276G>C (p.Gly426Arg)
c.*744G>C (n.*744G>C)
c.865G>C (p.Gly289Arg)
c.748G>C (p.Gly250Arg)
8g.27463101C>TCA370808857CHRNA2c.1342G>A (p.Gly448Ser)
c.1297G>A (p.Gly433Ser)
n.290-1347G>A
c.1276G>A (p.Gly426Ser)
c.*744G>A (n.*744G>A)
c.865G>A (p.Gly289Ser)
c.748G>A (p.Gly250Ser)
8g.27463102T>ACA460186023CHRNA2c.1341A>T (p.Ser447=)
c.1296A>T (p.Ser432=)
n.290-1348A>T
c.1275A>T (p.Ser425=)
c.*743A>T (n.*743A>T)
c.864A>T (p.Ser288=)
c.747A>T (p.Ser249=)
8g.27463102T>CCA460186024CHRNA2c.1341A>G (p.Ser447=)
c.1296A>G (p.Ser432=)
n.290-1348A>G
c.1275A>G (p.Ser425=)
c.*743A>G (n.*743A>G)
c.864A>G (p.Ser288=)
c.747A>G (p.Ser249=)
dbSNP gnomAD v3 gnomAD v4
8g.27463102T>GCA460186025CHRNA2c.1341A>C (p.Ser447=)
c.1296A>C (p.Ser432=)
n.290-1348A>C
c.1275A>C (p.Ser425=)
c.*743A>C (n.*743A>C)
c.864A>C (p.Ser288=)
c.747A>C (p.Ser249=)
8g.27463102T=CA1772813410CHRNA2c.1341A= (p.Ser447=)
c.1296A= (p.Ser432=)
n.290-1348A=
c.1275A= (p.Ser425=)
c.*743A= (n.*743A=)
c.864A= (p.Ser288=)
c.747A= (p.Ser249=)
8g.27463103G>ACA370808858CHRNA2c.1340C>T (p.Ser447Leu)
c.1295C>T (p.Ser432Leu)
n.290-1349C>T
c.1274C>T (p.Ser425Leu)
c.*742C>T (n.*742C>T)
c.863C>T (p.Ser288Leu)
c.746C>T (p.Ser249Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463103G>CCA370808859CHRNA2c.1340C>G (p.Ser447Ter)
c.1295C>G (p.Ser432Ter)
n.290-1349C>G
c.1274C>G (p.Ser425Ter)
c.*742C>G (n.*742C>G)
c.863C>G (p.Ser288Ter)
c.746C>G (p.Ser249Ter)
8g.27463103G=CA1772813412CHRNA2c.1340C= (p.Ser447=)
c.1295C= (p.Ser432=)
n.290-1349C=
c.1274C= (p.Ser425=)
c.*742C= (n.*742C=)
c.863C= (p.Ser288=)
c.746C= (p.Ser249=)
8g.27463103G>TCA370808860CHRNA2c.1340C>A (p.Ser447Ter)
c.1295C>A (p.Ser432Ter)
n.290-1349C>A
c.1274C>A (p.Ser425Ter)
c.*742C>A (n.*742C>A)
c.863C>A (p.Ser288Ter)
c.746C>A (p.Ser249Ter)
8g.27463104A>CCA370808861CHRNA2c.1339T>G (p.Ser447Ala)
c.1294T>G (p.Ser432Ala)
n.290-1350T>G
c.1273T>G (p.Ser425Ala)
c.*741T>G (n.*741T>G)
c.862T>G (p.Ser288Ala)
c.745T>G (p.Ser249Ala)
8g.27463104A>GCA370808862CHRNA2c.1339T>C (p.Ser447Pro)
c.1294T>C (p.Ser432Pro)
n.290-1350T>C
c.1273T>C (p.Ser425Pro)
c.*741T>C (n.*741T>C)
c.862T>C (p.Ser288Pro)
c.745T>C (p.Ser249Pro)
8g.27463104A>TCA370808863CHRNA2c.1339T>A (p.Ser447Thr)
c.1294T>A (p.Ser432Thr)
n.290-1350T>A
c.1273T>A (p.Ser425Thr)
c.*741T>A (n.*741T>A)
c.862T>A (p.Ser288Thr)
c.745T>A (p.Ser249Thr)
8g.27463105G>ACA460186026CHRNA2c.1338C>T (p.Ala446=)
c.1293C>T (p.Ala431=)
n.290-1351C>T
c.1272C>T (p.Ala424=)
c.*740C>T (n.*740C>T)
c.861C>T (p.Ala287=)
c.744C>T (p.Ala248=)
gnomAD v4
8g.27463105G>CCA460186027CHRNA2c.1338C>G (p.Ala446=)
c.1293C>G (p.Ala431=)
n.290-1351C>G
c.1272C>G (p.Ala424=)
c.*740C>G (n.*740C>G)
c.861C>G (p.Ala287=)
c.744C>G (p.Ala248=)
8g.27463105G>TCA460186028CHRNA2c.1338C>A (p.Ala446=)
c.1293C>A (p.Ala431=)
n.290-1351C>A
c.1272C>A (p.Ala424=)
c.*740C>A (n.*740C>A)
c.861C>A (p.Ala287=)
c.744C>A (p.Ala248=)
8g.27463106G>ACA370808864CHRNA2c.1337C>T (p.Ala446Val)
c.1292C>T (p.Ala431Val)
n.290-1352C>T
c.1271C>T (p.Ala424Val)
c.*739C>T (n.*739C>T)
c.860C>T (p.Ala287Val)
c.743C>T (p.Ala248Val)
8g.27463106G>CCA370808865CHRNA2c.1337C>G (p.Ala446Gly)
c.1292C>G (p.Ala431Gly)
n.290-1352C>G
c.1271C>G (p.Ala424Gly)
c.*739C>G (n.*739C>G)
c.860C>G (p.Ala287Gly)
c.743C>G (p.Ala248Gly)
8g.27463106G>TCA370808866CHRNA2c.1337C>A (p.Ala446Asp)
c.1292C>A (p.Ala431Asp)
n.290-1352C>A
c.1271C>A (p.Ala424Asp)
c.*739C>A (n.*739C>A)
c.860C>A (p.Ala287Asp)
c.743C>A (p.Ala248Asp)
8g.27463107C>ACA370808867CHRNA2c.1336G>T (p.Ala446Ser)
c.1291G>T (p.Ala431Ser)
n.290-1353G>T
c.1270G>T (p.Ala424Ser)
c.*738G>T (n.*738G>T)
c.859G>T (p.Ala287Ser)
c.742G>T (p.Ala248Ser)
8g.27463107C>GCA370808869CHRNA2c.1336G>C (p.Ala446Pro)
c.1291G>C (p.Ala431Pro)
n.290-1353G>C
c.1270G>C (p.Ala424Pro)
c.*738G>C (n.*738G>C)
c.859G>C (p.Ala287Pro)
c.742G>C (p.Ala248Pro)
8g.27463107C>TCA370808868CHRNA2c.1336G>A (p.Ala446Thr)
c.1291G>A (p.Ala431Thr)
n.290-1353G>A
c.1270G>A (p.Ala424Thr)
c.*738G>A (n.*738G>A)
c.859G>A (p.Ala287Thr)
c.742G>A (p.Ala248Thr)
8g.27463108C>ACA460186029CHRNA2c.1335G>T (p.Gly445=)
c.1290G>T (p.Gly430=)
n.290-1354G>T
c.1269G>T (p.Gly423=)
c.*737G>T (n.*737G>T)
c.858G>T (p.Gly286=)
c.741G>T (p.Gly247=)
gnomAD v4
8g.27463108C=CA1772813415CHRNA2c.1335G= (p.Gly445=)
c.1290G= (p.Gly430=)
n.290-1354G=
c.1269G= (p.Gly423=)
c.*737G= (n.*737G=)
c.858G= (p.Gly286=)
c.741G= (p.Gly247=)
8g.27463108C>GCA313421CHRNA2c.1335G>C (p.Gly445=)
c.1290G>C (p.Gly430=)
n.290-1354G>C
c.1269G>C (p.Gly423=)
c.*737G>C (n.*737G>C)
c.858G>C (p.Gly286=)
c.741G>C (p.Gly247=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463108C>TCA460186030CHRNA2c.1335G>A (p.Gly445=)
c.1290G>A (p.Gly430=)
n.290-1354G>A
c.1269G>A (p.Gly423=)
c.*737G>A (n.*737G>A)
c.858G>A (p.Gly286=)
c.741G>A (p.Gly247=)
dbSNP gnomAD v2 gnomAD v4
8g.27463109C>ACA370808870CHRNA2c.1334G>T (p.Gly445Val)
c.1289G>T (p.Gly430Val)
n.290-1355G>T
c.1268G>T (p.Gly423Val)
c.*736G>T (n.*736G>T)
c.857G>T (p.Gly286Val)
c.740G>T (p.Gly247Val)
COSMIC
8g.27463109C=CA1772813421CHRNA2c.1334G= (p.Gly445=)
c.1289G= (p.Gly430=)
n.290-1355G=
c.1268G= (p.Gly423=)
c.*736G= (n.*736G=)
c.857G= (p.Gly286=)
c.740G= (p.Gly247=)
8g.27463109C>GCA4689477CHRNA2c.1334G>C (p.Gly445Ala)
c.1289G>C (p.Gly430Ala)
n.290-1355G>C
c.1268G>C (p.Gly423Ala)
c.*736G>C (n.*736G>C)
c.857G>C (p.Gly286Ala)
c.740G>C (p.Gly247Ala)
dbSNP ExAC gnomAD v2
8g.27463109C>TCA174241182CHRNA2c.1334G>A (p.Gly445Glu)
c.1289G>A (p.Gly430Glu)
n.290-1355G>A
c.1268G>A (p.Gly423Glu)
c.*736G>A (n.*736G>A)
c.857G>A (p.Gly286Glu)
c.740G>A (p.Gly247Glu)
dbSNP gnomAD v3 gnomAD v4
8g.27463110C>ACA370808871CHRNA2c.1333G>T (p.Gly445Trp)
c.1288G>T (p.Gly430Trp)
n.290-1356G>T
c.1267G>T (p.Gly423Trp)
c.*735G>T (n.*735G>T)
c.856G>T (p.Gly286Trp)
c.739G>T (p.Gly247Trp)
8g.27463110C>GCA370808872CHRNA2c.1333G>C (p.Gly445Arg)
c.1288G>C (p.Gly430Arg)
n.290-1356G>C
c.1267G>C (p.Gly423Arg)
c.*735G>C (n.*735G>C)
c.856G>C (p.Gly286Arg)
c.739G>C (p.Gly247Arg)
8g.27463110C>TCA370808873CHRNA2c.1333G>A (p.Gly445Arg)
c.1288G>A (p.Gly430Arg)
n.290-1356G>A
c.1267G>A (p.Gly423Arg)
c.*735G>A (n.*735G>A)
c.856G>A (p.Gly286Arg)
c.739G>A (p.Gly247Arg)
8g.27463111A=CA1772813428CHRNA2c.1332T= (p.Ser444=)
c.1287T= (p.Ser429=)
n.290-1357T=
c.1266T= (p.Ser422=)
c.*734T= (n.*734T=)
c.855T= (p.Ser285=)
c.738T= (p.Ser246=)
8g.27463111A>CCA460186034CHRNA2c.1332T>G (p.Ser444=)
c.1287T>G (p.Ser429=)
n.290-1357T>G
c.1266T>G (p.Ser422=)
c.*734T>G (n.*734T>G)
c.855T>G (p.Ser285=)
c.738T>G (p.Ser246=)
8g.27463111A>GCA460186033CHRNA2c.1332T>C (p.Ser444=)
c.1287T>C (p.Ser429=)
n.290-1357T>C
c.1266T>C (p.Ser422=)
c.*734T>C (n.*734T>C)
c.855T>C (p.Ser285=)
c.738T>C (p.Ser246=)
8g.27463111A>TCA174241193CHRNA2c.1332T>A (p.Ser444=)
c.1287T>A (p.Ser429=)
n.290-1357T>A
c.1266T>A (p.Ser422=)
c.*734T>A (n.*734T>A)
c.855T>A (p.Ser285=)
c.738T>A (p.Ser246=)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463112G>ACA370808874CHRNA2c.1331C>T (p.Ser444Phe)
c.1286C>T (p.Ser429Phe)
n.290-1358C>T
c.1265C>T (p.Ser422Phe)
c.*733C>T (n.*733C>T)
c.854C>T (p.Ser285Phe)
c.737C>T (p.Ser246Phe)
8g.27463112G>CCA4689478CHRNA2c.1331C>G (p.Ser444Cys)
c.1286C>G (p.Ser429Cys)
n.290-1358C>G
c.1265C>G (p.Ser422Cys)
c.*733C>G (n.*733C>G)
c.854C>G (p.Ser285Cys)
c.737C>G (p.Ser246Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463112G=CA1772813432CHRNA2c.1331C= (p.Ser444=)
c.1286C= (p.Ser429=)
n.290-1358C=
c.1265C= (p.Ser422=)
c.*733C= (n.*733C=)
c.854C= (p.Ser285=)
c.737C= (p.Ser246=)
8g.27463112G>TCA370808875CHRNA2c.1331C>A (p.Ser444Tyr)
c.1286C>A (p.Ser429Tyr)
n.290-1358C>A
c.1265C>A (p.Ser422Tyr)
c.*733C>A (n.*733C>A)
c.854C>A (p.Ser285Tyr)
c.737C>A (p.Ser246Tyr)
8g.27463113A>CCA370808878CHRNA2c.1330T>G (p.Ser444Ala)
c.1285T>G (p.Ser429Ala)
n.290-1359T>G
c.1264T>G (p.Ser422Ala)
c.*732T>G (n.*732T>G)
c.853T>G (p.Ser285Ala)
c.736T>G (p.Ser246Ala)
8g.27463113A>GCA370808877CHRNA2c.1330T>C (p.Ser444Pro)
c.1285T>C (p.Ser429Pro)
n.290-1359T>C
c.1264T>C (p.Ser422Pro)
c.*732T>C (n.*732T>C)
c.853T>C (p.Ser285Pro)
c.736T>C (p.Ser246Pro)
ClinVar dbSNP
8g.27463113A>TCA370808876CHRNA2c.1330T>A (p.Ser444Thr)
c.1285T>A (p.Ser429Thr)
n.290-1359T>A
c.1264T>A (p.Ser422Thr)
c.*732T>A (n.*732T>A)
c.853T>A (p.Ser285Thr)
c.736T>A (p.Ser246Thr)
8g.27463114G>ACA460186035CHRNA2c.1329C>T (p.His443=)
c.1284C>T (p.His428=)
n.290-1360C>T
c.1263C>T (p.His421=)
c.*731C>T (n.*731C>T)
c.852C>T (p.His284=)
c.735C>T (p.His245=)
8g.27463114G>CCA370808879CHRNA2c.1329C>G (p.His443Gln)
c.1284C>G (p.His428Gln)
n.290-1360C>G
c.1263C>G (p.His421Gln)
c.*731C>G (n.*731C>G)
c.852C>G (p.His284Gln)
c.735C>G (p.His245Gln)
8g.27463114G>TCA370808880CHRNA2c.1329C>A (p.His443Gln)
c.1284C>A (p.His428Gln)
n.290-1360C>A
c.1263C>A (p.His421Gln)
c.*731C>A (n.*731C>A)
c.852C>A (p.His284Gln)
c.735C>A (p.His245Gln)
8g.27463115T>ACA370808881CHRNA2c.1328A>T (p.His443Leu)
c.1283A>T (p.His428Leu)
n.290-1361A>T
c.1262A>T (p.His421Leu)
c.*730A>T (n.*730A>T)
c.851A>T (p.His284Leu)
c.734A>T (p.His245Leu)
8g.27463115T>CCA370808882CHRNA2c.1328A>G (p.His443Arg)
c.1283A>G (p.His428Arg)
n.290-1361A>G
c.1262A>G (p.His421Arg)
c.*730A>G (n.*730A>G)
c.851A>G (p.His284Arg)
c.734A>G (p.His245Arg)
dbSNP gnomAD v2 gnomAD v4
8g.27463115T>GCA370808883CHRNA2c.1328A>C (p.His443Pro)
c.1283A>C (p.His428Pro)
n.290-1361A>C
c.1262A>C (p.His421Pro)
c.*730A>C (n.*730A>C)
c.851A>C (p.His284Pro)
c.734A>C (p.His245Pro)
8g.27463115T=CA1772813439CHRNA2c.1328A= (p.His443=)
c.1283A= (p.His428=)
n.290-1361A=
c.1262A= (p.His421=)
c.*730A= (n.*730A=)
c.851A= (p.His284=)
c.734A= (p.His245=)
8g.27463115_27463116delinsTGCA1772813437CHRNA2c.1327_1328delinsCA (p.His443=)
c.1282_1283delinsCA (p.His428=)
n.290-1362_290-1361delinsCA
c.1261_1262delinsCA (p.His421=)
c.*729_*730delinsCA (n.*729_*730delinsCA)
c.850_851delinsCA (p.His284=)
c.733_734delinsCA (p.His245=)
8g.27463116delCA4689479CHRNA2c.1327del (p.His443ThrfsTer?)
c.1282del (p.His428ThrfsTer?)
n.290-1362del
c.1261del (p.His421ThrfsTer?)
c.*729del (n.*729del)
c.850del (p.His284ThrfsTer?)
c.733del (p.His245ThrfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463116G>ACA370808884CHRNA2c.1327C>T (p.His443Tyr)
c.1282C>T (p.His428Tyr)
n.290-1362C>T
c.1261C>T (p.His421Tyr)
c.*729C>T (n.*729C>T)
c.850C>T (p.His284Tyr)
c.733C>T (p.His245Tyr)
dbSNP gnomAD v4
8g.27463116G>CCA370808885CHRNA2c.1327C>G (p.His443Asp)
c.1282C>G (p.His428Asp)
n.290-1362C>G
c.1261C>G (p.His421Asp)
c.*729C>G (n.*729C>G)
c.850C>G (p.His284Asp)
c.733C>G (p.His245Asp)
8g.27463116G=CA1772813442CHRNA2c.1327C= (p.His443=)
c.1282C= (p.His428=)
n.290-1362C=
c.1261C= (p.His421=)
c.*729C= (n.*729C=)
c.850C= (p.His284=)
c.733C= (p.His245=)
8g.27463116G>TCA370808886CHRNA2c.1327C>A (p.His443Asn)
c.1282C>A (p.His428Asn)
n.290-1362C>A
c.1261C>A (p.His421Asn)
c.*729C>A (n.*729C>A)
c.850C>A (p.His284Asn)
c.733C>A (p.His245Asn)
gnomAD v4
8g.27463117C>ACA460186036CHRNA2c.1326G>T (p.Leu442=)
c.1281G>T (p.Leu427=)
n.290-1363G>T
c.1260G>T (p.Leu420=)
c.*728G>T (n.*728G>T)
c.849G>T (p.Leu283=)
c.732G>T (p.Leu244=)
8g.27463117C>GCA460186037CHRNA2c.1326G>C (p.Leu442=)
c.1281G>C (p.Leu427=)
n.290-1363G>C
c.1260G>C (p.Leu420=)
c.*728G>C (n.*728G>C)
c.849G>C (p.Leu283=)
c.732G>C (p.Leu244=)
8g.27463117C>TCA460186038CHRNA2c.1326G>A (p.Leu442=)
c.1281G>A (p.Leu427=)
n.290-1363G>A
c.1260G>A (p.Leu420=)
c.*728G>A (n.*728G>A)
c.849G>A (p.Leu283=)
c.732G>A (p.Leu244=)
gnomAD v4
8g.27463118delCA2579127522CHRNA2c.1325del (p.Leu442ArgfsTer?)
c.1280del (p.Leu427ArgfsTer?)
n.290-1364del
c.1259del (p.Leu420ArgfsTer?)
c.*727del (n.*727del)
c.848del (p.Leu283ArgfsTer?)
c.731del (p.Leu244ArgfsTer?)
8g.27463118A>CCA370808887CHRNA2c.1325T>G (p.Leu442Arg)
c.1280T>G (p.Leu427Arg)
n.290-1364T>G
c.1259T>G (p.Leu420Arg)
c.*727T>G (n.*727T>G)
c.848T>G (p.Leu283Arg)
c.731T>G (p.Leu244Arg)
8g.27463118A>GCA370808888CHRNA2c.1325T>C (p.Leu442Pro)
c.1280T>C (p.Leu427Pro)
n.290-1364T>C
c.1259T>C (p.Leu420Pro)
c.*727T>C (n.*727T>C)
c.848T>C (p.Leu283Pro)
c.731T>C (p.Leu244Pro)
8g.27463118A>TCA370808889CHRNA2c.1325T>A (p.Leu442Gln)
c.1280T>A (p.Leu427Gln)
n.290-1364T>A
c.1259T>A (p.Leu420Gln)
c.*727T>A (n.*727T>A)
c.848T>A (p.Leu283Gln)
c.731T>A (p.Leu244Gln)
8g.27463119G>ACA288706CHRNA2c.1324C>T (p.Leu442=)
c.1279C>T (p.Leu427=)
n.290-1365C>T
c.1258C>T (p.Leu420=)
c.*726C>T (n.*726C>T)
c.847C>T (p.Leu283=)
c.730C>T (p.Leu244=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463119G>CCA370808891CHRNA2c.1324C>G (p.Leu442Val)
c.1279C>G (p.Leu427Val)
n.290-1365C>G
c.1258C>G (p.Leu420Val)
c.*726C>G (n.*726C>G)
c.847C>G (p.Leu283Val)
c.730C>G (p.Leu244Val)
8g.27463119G=CA1630835136CHRNA2c.1324C= (p.Leu442=)
c.1279C= (p.Leu427=)
n.290-1365C=
c.1258C= (p.Leu420=)
c.*726C= (n.*726C=)
c.847C= (p.Leu283=)
c.730C= (p.Leu244=)
8g.27463119G>TCA370808890CHRNA2c.1324C>A (p.Leu442Met)
c.1279C>A (p.Leu427Met)
n.290-1365C>A
c.1258C>A (p.Leu420Met)
c.*726C>A (n.*726C>A)
c.847C>A (p.Leu283Met)
c.730C>A (p.Leu244Met)
8g.27463120G>ACA460186040CHRNA2c.1323C>T (p.His441=)
c.1278C>T (p.His426=)
n.290-1366C>T
c.1257C>T (p.His419=)
c.*725C>T (n.*725C>T)
c.846C>T (p.His282=)
c.729C>T (p.His243=)
gnomAD v4
8g.27463120G>CCA370808892CHRNA2c.1323C>G (p.His441Gln)
c.1278C>G (p.His426Gln)
n.290-1366C>G
c.1257C>G (p.His419Gln)
c.*725C>G (n.*725C>G)
c.846C>G (p.His282Gln)
c.729C>G (p.His243Gln)
8g.27463120G>TCA370808893CHRNA2c.1323C>A (p.His441Gln)
c.1278C>A (p.His426Gln)
n.290-1366C>A
c.1257C>A (p.His419Gln)
c.*725C>A (n.*725C>A)
c.846C>A (p.His282Gln)
c.729C>A (p.His243Gln)
8g.27463121T>ACA370808894CHRNA2c.1322A>T (p.His441Leu)
c.1277A>T (p.His426Leu)
n.290-1367A>T
c.1256A>T (p.His419Leu)
c.*724A>T (n.*724A>T)
c.845A>T (p.His282Leu)
c.728A>T (p.His243Leu)
8g.27463121T>CCA370808896CHRNA2c.1322A>G (p.His441Arg)
c.1277A>G (p.His426Arg)
n.290-1367A>G
c.1256A>G (p.His419Arg)
c.*724A>G (n.*724A>G)
c.845A>G (p.His282Arg)
c.728A>G (p.His243Arg)
dbSNP
8g.27463121T>GCA370808895CHRNA2c.1322A>C (p.His441Pro)
c.1277A>C (p.His426Pro)
n.290-1367A>C
c.1256A>C (p.His419Pro)
c.*724A>C (n.*724A>C)
c.845A>C (p.His282Pro)
c.728A>C (p.His243Pro)
8g.27463121T=CA1772813447CHRNA2c.1322A= (p.His441=)
c.1277A= (p.His426=)
n.290-1367A=
c.1256A= (p.His419=)
c.*724A= (n.*724A=)
c.845A= (p.His282=)
c.728A= (p.His243=)
8g.27463122G>ACA370808897CHRNA2c.1321C>T (p.His441Tyr)
c.1276C>T (p.His426Tyr)
n.290-1368C>T
c.1255C>T (p.His419Tyr)
c.*723C>T (n.*723C>T)
c.844C>T (p.His282Tyr)
c.727C>T (p.His243Tyr)
8g.27463122G>CCA370808899CHRNA2c.1321C>G (p.His441Asp)
c.1276C>G (p.His426Asp)
n.290-1368C>G
c.1255C>G (p.His419Asp)
c.*723C>G (n.*723C>G)
c.844C>G (p.His282Asp)
c.727C>G (p.His243Asp)
8g.27463122G>TCA370808898CHRNA2c.1321C>A (p.His441Asn)
c.1276C>A (p.His426Asn)
n.290-1368C>A
c.1255C>A (p.His419Asn)
c.*723C>A (n.*723C>A)
c.844C>A (p.His282Asn)
c.727C>A (p.His243Asn)
gnomAD v4
8g.27463123G>ACA460186041CHRNA2c.1320C>T (p.Gly440=)
c.1275C>T (p.Gly425=)
n.290-1369C>T
c.1254C>T (p.Gly418=)
c.*722C>T (n.*722C>T)
c.843C>T (p.Gly281=)
c.726C>T (p.Gly242=)
gnomAD v4
8g.27463123G>CCA460186042CHRNA2c.1320C>G (p.Gly440=)
c.1275C>G (p.Gly425=)
n.290-1369C>G
c.1254C>G (p.Gly418=)
c.*722C>G (n.*722C>G)
c.843C>G (p.Gly281=)
c.726C>G (p.Gly242=)
8g.27463123G>TCA460186043CHRNA2c.1320C>A (p.Gly440=)
c.1275C>A (p.Gly425=)
n.290-1369C>A
c.1254C>A (p.Gly418=)
c.*722C>A (n.*722C>A)
c.843C>A (p.Gly281=)
c.726C>A (p.Gly242=)
8g.27463124C>ACA370808900CHRNA2c.1319G>T (p.Gly440Val)
c.1274G>T (p.Gly425Val)
n.290-1370G>T
c.1253G>T (p.Gly418Val)
c.*721G>T (n.*721G>T)
c.842G>T (p.Gly281Val)
c.725G>T (p.Gly242Val)
8g.27463124C=CA1772813450CHRNA2c.1319G= (p.Gly440=)
c.1274G= (p.Gly425=)
n.290-1370G=
c.1253G= (p.Gly418=)
c.*721G= (n.*721G=)
c.842G= (p.Gly281=)
c.725G= (p.Gly242=)
8g.27463124C>GCA370808901CHRNA2c.1319G>C (p.Gly440Ala)
c.1274G>C (p.Gly425Ala)
n.290-1370G>C
c.1253G>C (p.Gly418Ala)
c.*721G>C (n.*721G>C)
c.842G>C (p.Gly281Ala)
c.725G>C (p.Gly242Ala)
8g.27463124C>TCA4689480CHRNA2c.1319G>A (p.Gly440Asp)
c.1274G>A (p.Gly425Asp)
n.290-1370G>A
c.1253G>A (p.Gly418Asp)
c.*721G>A (n.*721G>A)
c.842G>A (p.Gly281Asp)
c.725G>A (p.Gly242Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463125C>ACA370808902CHRNA2c.1318G>T (p.Gly440Cys)
c.1273G>T (p.Gly425Cys)
n.290-1371G>T
c.1252G>T (p.Gly418Cys)
c.*720G>T (n.*720G>T)
c.841G>T (p.Gly281Cys)
c.724G>T (p.Gly242Cys)
8g.27463125C=CA1772813454CHRNA2c.1318G= (p.Gly440=)
c.1273G= (p.Gly425=)
n.290-1371G=
c.1252G= (p.Gly418=)
c.*720G= (n.*720G=)
c.841G= (p.Gly281=)
c.724G= (p.Gly242=)
8g.27463125C>GCA370808903CHRNA2c.1318G>C (p.Gly440Arg)
c.1273G>C (p.Gly425Arg)
n.290-1371G>C
c.1252G>C (p.Gly418Arg)
c.*720G>C (n.*720G>C)
c.841G>C (p.Gly281Arg)
c.724G>C (p.Gly242Arg)
ClinVar
8g.27463125C>TCA370808904CHRNA2c.1318G>A (p.Gly440Ser)
c.1273G>A (p.Gly425Ser)
n.290-1371G>A
c.1252G>A (p.Gly418Ser)
c.*720G>A (n.*720G>A)
c.841G>A (p.Gly281Ser)
c.724G>A (p.Gly242Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463126G>ACA4689481CHRNA2c.1317C>T (p.His439=)
c.1272C>T (p.His424=)
n.290-1372C>T
c.1251C>T (p.His417=)
c.*719C>T (n.*719C>T)
c.840C>T (p.His280=)
c.723C>T (p.His241=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463126G>CCA370808905CHRNA2c.1317C>G (p.His439Gln)
c.1272C>G (p.His424Gln)
n.290-1372C>G
c.1251C>G (p.His417Gln)
c.*719C>G (n.*719C>G)
c.840C>G (p.His280Gln)
c.723C>G (p.His241Gln)
8g.27463126G=CA1772813460CHRNA2c.1317C= (p.His439=)
c.1272C= (p.His424=)
n.290-1372C=
c.1251C= (p.His417=)
c.*719C= (n.*719C=)
c.840C= (p.His280=)
c.723C= (p.His241=)
8g.27463126G>TCA370808906CHRNA2c.1317C>A (p.His439Gln)
c.1272C>A (p.His424Gln)
n.290-1372C>A
c.1251C>A (p.His417Gln)
c.*719C>A (n.*719C>A)
c.840C>A (p.His280Gln)
c.723C>A (p.His241Gln)
gnomAD v4
8g.27463127T>ACA370808907CHRNA2c.1316A>T (p.His439Leu)
c.1271A>T (p.His424Leu)
n.290-1373A>T
c.1250A>T (p.His417Leu)
c.*718A>T (n.*718A>T)
c.839A>T (p.His280Leu)
c.722A>T (p.His241Leu)
8g.27463127T>CCA370808908CHRNA2c.1316A>G (p.His439Arg)
c.1271A>G (p.His424Arg)
n.290-1373A>G
c.1250A>G (p.His417Arg)
c.*718A>G (n.*718A>G)
c.839A>G (p.His280Arg)
c.722A>G (p.His241Arg)
gnomAD v4
8g.27463127T>GCA370808909CHRNA2c.1316A>C (p.His439Pro)
c.1271A>C (p.His424Pro)
n.290-1373A>C
c.1250A>C (p.His417Pro)
c.*718A>C (n.*718A>C)
c.839A>C (p.His280Pro)
c.722A>C (p.His241Pro)
8g.27463128G>ACA370808912CHRNA2c.1315C>T (p.His439Tyr)
c.1270C>T (p.His424Tyr)
n.290-1374C>T
c.1249C>T (p.His417Tyr)
c.*717C>T (n.*717C>T)
c.838C>T (p.His280Tyr)
c.721C>T (p.His241Tyr)
gnomAD v4
8g.27463128G>CCA370808911CHRNA2c.1315C>G (p.His439Asp)
c.1270C>G (p.His424Asp)
n.290-1374C>G
c.1249C>G (p.His417Asp)
c.*717C>G (n.*717C>G)
c.838C>G (p.His280Asp)
c.721C>G (p.His241Asp)
8g.27463128G>TCA370808910CHRNA2c.1315C>A (p.His439Asn)
c.1270C>A (p.His424Asn)
n.290-1374C>A
c.1249C>A (p.His417Asn)
c.*717C>A (n.*717C>A)
c.838C>A (p.His280Asn)
c.721C>A (p.His241Asn)
8g.27463129G>ACA460186048CHRNA2c.1314C>T (p.Ser438=)
c.1269C>T (p.Ser423=)
n.290-1375C>T
c.1248C>T (p.Ser416=)
c.*716C>T (n.*716C>T)
c.837C>T (p.Ser279=)
c.720C>T (p.Ser240=)
gnomAD v4
8g.27463129G>CCA370808913CHRNA2c.1314C>G (p.Ser438Arg)
c.1269C>G (p.Ser423Arg)
n.290-1375C>G
c.1248C>G (p.Ser416Arg)
c.*716C>G (n.*716C>G)
c.837C>G (p.Ser279Arg)
c.720C>G (p.Ser240Arg)
8g.27463129G>TCA370808914CHRNA2c.1314C>A (p.Ser438Arg)
c.1269C>A (p.Ser423Arg)
n.290-1375C>A
c.1248C>A (p.Ser416Arg)
c.*716C>A (n.*716C>A)
c.837C>A (p.Ser279Arg)
c.720C>A (p.Ser240Arg)
8g.27463130C>ACA370808915CHRNA2c.1313G>T (p.Ser438Ile)
c.1268G>T (p.Ser423Ile)
n.290-1376G>T
c.1247G>T (p.Ser416Ile)
c.*715G>T (n.*715G>T)
c.836G>T (p.Ser279Ile)
c.719G>T (p.Ser240Ile)
8g.27463130C>GCA370808916CHRNA2c.1313G>C (p.Ser438Thr)
c.1268G>C (p.Ser423Thr)
n.290-1376G>C
c.1247G>C (p.Ser416Thr)
c.*715G>C (n.*715G>C)
c.836G>C (p.Ser279Thr)
c.719G>C (p.Ser240Thr)
8g.27463130C>TCA370808917CHRNA2c.1313G>A (p.Ser438Asn)
c.1268G>A (p.Ser423Asn)
n.290-1376G>A
c.1247G>A (p.Ser416Asn)
c.*715G>A (n.*715G>A)
c.836G>A (p.Ser279Asn)
c.719G>A (p.Ser240Asn)
8g.27463131T>ACA370808918CHRNA2c.1312A>T (p.Ser438Cys)
c.1267A>T (p.Ser423Cys)
n.290-1377A>T
c.1246A>T (p.Ser416Cys)
c.*714A>T (n.*714A>T)
c.835A>T (p.Ser279Cys)
c.718A>T (p.Ser240Cys)
8g.27463131T>CCA370808919CHRNA2c.1312A>G (p.Ser438Gly)
c.1267A>G (p.Ser423Gly)
n.290-1377A>G
c.1246A>G (p.Ser416Gly)
c.*714A>G (n.*714A>G)
c.835A>G (p.Ser279Gly)
c.718A>G (p.Ser240Gly)
8g.27463131T>GCA370808920CHRNA2c.1312A>C (p.Ser438Arg)
c.1267A>C (p.Ser423Arg)
n.290-1377A>C
c.1246A>C (p.Ser416Arg)
c.*714A>C (n.*714A>C)
c.835A>C (p.Ser279Arg)
c.718A>C (p.Ser240Arg)
8g.27463132delCA2686678218CHRNA2c.1311del (p.Cys437Ter)
c.1266del (p.Cys422Ter)
n.290-1378del
c.1245del (p.Cys415Ter)
c.*713del (n.*713del)
c.834del (p.Cys278Ter)
c.717del (p.Cys239Ter)
gnomAD v4
8g.27463132G>ACA460186052CHRNA2c.1311C>T (p.Cys437=)
c.1266C>T (p.Cys422=)
n.290-1378C>T
c.1245C>T (p.Cys415=)
c.*713C>T (n.*713C>T)
c.834C>T (p.Cys278=)
c.717C>T (p.Cys239=)
gnomAD v4
8g.27463132G>CCA370808921CHRNA2c.1311C>G (p.Cys437Trp)
c.1266C>G (p.Cys422Trp)
n.290-1378C>G
c.1245C>G (p.Cys415Trp)
c.*713C>G (n.*713C>G)
c.834C>G (p.Cys278Trp)
c.717C>G (p.Cys239Trp)
8g.27463132G>TCA370808922CHRNA2c.1311C>A (p.Cys437Ter)
c.1266C>A (p.Cys422Ter)
n.290-1378C>A
c.1245C>A (p.Cys415Ter)
c.*713C>A (n.*713C>A)
c.834C>A (p.Cys278Ter)
c.717C>A (p.Cys239Ter)
8g.27463132_27463144dupCA2499219211CHRNA2c.1299_1311dup (p.Ser438GlyfsTer19)
c.1254_1266dup (p.Ser423GlyfsTer19)
n.290-1390_290-1378dup
c.1233_1245dup (p.Ser416GlyfsTer19)
c.*701_*713dup (n.*701_*713dup)
c.822_834dup (p.Ser279GlyfsTer19)
c.705_717dup (p.Ser240GlyfsTer19)
ClinVar dbSNP gnomAD v4
8g.27463133C>ACA370808923CHRNA2c.1310G>T (p.Cys437Phe)
c.1265G>T (p.Cys422Phe)
n.290-1379G>T
c.1244G>T (p.Cys415Phe)
c.*712G>T (n.*712G>T)
c.833G>T (p.Cys278Phe)
c.716G>T (p.Cys239Phe)
8g.27463133C>GCA370808924CHRNA2c.1310G>C (p.Cys437Ser)
c.1265G>C (p.Cys422Ser)
n.290-1379G>C
c.1244G>C (p.Cys415Ser)
c.*712G>C (n.*712G>C)
c.833G>C (p.Cys278Ser)
c.716G>C (p.Cys239Ser)
8g.27463133C>TCA370808925CHRNA2c.1310G>A (p.Cys437Tyr)
c.1265G>A (p.Cys422Tyr)
n.290-1379G>A
c.1244G>A (p.Cys415Tyr)
c.*712G>A (n.*712G>A)
c.833G>A (p.Cys278Tyr)
c.716G>A (p.Cys239Tyr)
gnomAD v4
8g.27463134A>CCA370808927CHRNA2c.1309T>G (p.Cys437Gly)
c.1264T>G (p.Cys422Gly)
n.290-1380T>G
c.1243T>G (p.Cys415Gly)
c.*711T>G (n.*711T>G)
c.832T>G (p.Cys278Gly)
c.715T>G (p.Cys239Gly)
8g.27463134A>GCA370808928CHRNA2c.1309T>C (p.Cys437Arg)
c.1264T>C (p.Cys422Arg)
n.290-1380T>C
c.1243T>C (p.Cys415Arg)
c.*711T>C (n.*711T>C)
c.832T>C (p.Cys278Arg)
c.715T>C (p.Cys239Arg)
8g.27463134A>TCA370808926CHRNA2c.1309T>A (p.Cys437Ser)
c.1264T>A (p.Cys422Ser)
n.290-1380T>A
c.1243T>A (p.Cys415Ser)
c.*711T>A (n.*711T>A)
c.832T>A (p.Cys278Ser)
c.715T>A (p.Cys239Ser)
8g.27463135G>ACA460186053CHRNA2c.1308C>T (p.Leu436=)
c.1263C>T (p.Leu421=)
n.290-1381C>T
c.1242C>T (p.Leu414=)
c.*710C>T (n.*710C>T)
c.831C>T (p.Leu277=)
c.714C>T (p.Leu238=)
8g.27463135G>CCA460186054CHRNA2c.1308C>G (p.Leu436=)
c.1263C>G (p.Leu421=)
n.290-1381C>G
c.1242C>G (p.Leu414=)
c.*710C>G (n.*710C>G)
c.831C>G (p.Leu277=)
c.714C>G (p.Leu238=)
8g.27463135G>TCA460186055CHRNA2c.1308C>A (p.Leu436=)
c.1263C>A (p.Leu421=)
n.290-1381C>A
c.1242C>A (p.Leu414=)
c.*710C>A (n.*710C>A)
c.831C>A (p.Leu277=)
c.714C>A (p.Leu238=)
8g.27463136A>CCA370808929CHRNA2c.1307T>G (p.Leu436Arg)
c.1262T>G (p.Leu421Arg)
n.290-1382T>G
c.1241T>G (p.Leu414Arg)
c.*709T>G (n.*709T>G)
c.830T>G (p.Leu277Arg)
c.713T>G (p.Leu238Arg)
8g.27463136A>GCA370808930CHRNA2c.1307T>C (p.Leu436Pro)
c.1262T>C (p.Leu421Pro)
n.290-1382T>C
c.1241T>C (p.Leu414Pro)
c.*709T>C (n.*709T>C)
c.830T>C (p.Leu277Pro)
c.713T>C (p.Leu238Pro)
gnomAD v4
8g.27463136A>TCA370808931CHRNA2c.1307T>A (p.Leu436His)
c.1262T>A (p.Leu421His)
n.290-1382T>A
c.1241T>A (p.Leu414His)
c.*709T>A (n.*709T>A)
c.830T>A (p.Leu277His)
c.713T>A (p.Leu238His)
8g.27463137G>ACA370808932CHRNA2c.1306C>T (p.Leu436Phe)
c.1261C>T (p.Leu421Phe)
n.290-1383C>T
c.1240C>T (p.Leu414Phe)
c.*708C>T (n.*708C>T)
c.829C>T (p.Leu277Phe)
c.712C>T (p.Leu238Phe)
ClinVar gnomAD v4
8g.27463137G>CCA370808933CHRNA2c.1306C>G (p.Leu436Val)
c.1261C>G (p.Leu421Val)
n.290-1383C>G
c.1240C>G (p.Leu414Val)
c.*708C>G (n.*708C>G)
c.829C>G (p.Leu277Val)
c.712C>G (p.Leu238Val)
8g.27463137G>TCA370808934CHRNA2c.1306C>A (p.Leu436Ile)
c.1261C>A (p.Leu421Ile)
n.290-1383C>A
c.1240C>A (p.Leu414Ile)
c.*708C>A (n.*708C>A)
c.829C>A (p.Leu277Ile)
c.712C>A (p.Leu238Ile)
gnomAD v4
8g.27463138G>ACA460186056CHRNA2c.1305C>T (p.Thr435=)
c.1260C>T (p.Thr420=)
n.290-1384C>T
c.1239C>T (p.Thr413=)
c.*707C>T (n.*707C>T)
c.828C>T (p.Thr276=)
c.711C>T (p.Thr237=)
gnomAD v4
8g.27463138G>CCA460186057CHRNA2c.1305C>G (p.Thr435=)
c.1260C>G (p.Thr420=)
n.290-1384C>G
c.1239C>G (p.Thr413=)
c.*707C>G (n.*707C>G)
c.828C>G (p.Thr276=)
c.711C>G (p.Thr237=)
8g.27463138G>TCA460186058CHRNA2c.1305C>A (p.Thr435=)
c.1260C>A (p.Thr420=)
n.290-1384C>A
c.1239C>A (p.Thr413=)
c.*707C>A (n.*707C>A)
c.828C>A (p.Thr276=)
c.711C>A (p.Thr237=)
8g.27463139G>ACA370808935CHRNA2c.1304C>T (p.Thr435Ile)
c.1259C>T (p.Thr420Ile)
n.290-1385C>T
c.1238C>T (p.Thr413Ile)
c.*706C>T (n.*706C>T)
c.827C>T (p.Thr276Ile)
c.710C>T (p.Thr237Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463139G>CCA370808936CHRNA2c.1304C>G (p.Thr435Ser)
c.1259C>G (p.Thr420Ser)
n.290-1385C>G
c.1238C>G (p.Thr413Ser)
c.*706C>G (n.*706C>G)
c.827C>G (p.Thr276Ser)
c.710C>G (p.Thr237Ser)
8g.27463139G=CA1772813469CHRNA2c.1304C= (p.Thr435=)
c.1259C= (p.Thr420=)
n.290-1385C=
c.1238C= (p.Thr413=)
c.*706C= (n.*706C=)
c.827C= (p.Thr276=)
c.710C= (p.Thr237=)
8g.27463139G>TCA370808937CHRNA2c.1304C>A (p.Thr435Asn)
c.1259C>A (p.Thr420Asn)
n.290-1385C>A
c.1238C>A (p.Thr413Asn)
c.*706C>A (n.*706C>A)
c.827C>A (p.Thr276Asn)
c.710C>A (p.Thr237Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463140T>ACA370808938CHRNA2c.1303A>T (p.Thr435Ser)
c.1258A>T (p.Thr420Ser)
n.290-1386A>T
c.1237A>T (p.Thr413Ser)
c.*705A>T (n.*705A>T)
c.826A>T (p.Thr276Ser)
c.709A>T (p.Thr237Ser)
8g.27463140T>CCA174241222CHRNA2c.1303A>G (p.Thr435Ala)
c.1258A>G (p.Thr420Ala)
n.290-1386A>G
c.1237A>G (p.Thr413Ala)
c.*705A>G (n.*705A>G)
c.826A>G (p.Thr276Ala)
c.709A>G (p.Thr237Ala)
ClinVar dbSNP gnomAD v4
8g.27463140T>GCA370808939CHRNA2c.1303A>C (p.Thr435Pro)
c.1258A>C (p.Thr420Pro)
n.290-1386A>C
c.1237A>C (p.Thr413Pro)
c.*705A>C (n.*705A>C)
c.826A>C (p.Thr276Pro)
c.709A>C (p.Thr237Pro)
dbSNP
8g.27463140T=CA1772813472CHRNA2c.1303A= (p.Thr435=)
c.1258A= (p.Thr420=)
n.290-1386A=
c.1237A= (p.Thr413=)
c.*705A= (n.*705A=)
c.826A= (p.Thr276=)
c.709A= (p.Thr237=)
8g.27463141G>ACA4689482CHRNA2c.1302C>T (p.Gly434=)
c.1257C>T (p.Gly419=)
n.290-1387C>T
c.1236C>T (p.Gly412=)
c.*704C>T (n.*704C>T)
c.825C>T (p.Gly275=)
c.708C>T (p.Gly236=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463141G>CCA460186060CHRNA2c.1302C>G (p.Gly434=)
c.1257C>G (p.Gly419=)
n.290-1387C>G
c.1236C>G (p.Gly412=)
c.*704C>G (n.*704C>G)
c.825C>G (p.Gly275=)
c.708C>G (p.Gly236=)
8g.27463141G=CA1772813478CHRNA2c.1302C= (p.Gly434=)
c.1257C= (p.Gly419=)
n.290-1387C=
c.1236C= (p.Gly412=)
c.*704C= (n.*704C=)
c.825C= (p.Gly275=)
c.708C= (p.Gly236=)
8g.27463141G>TCA460186061CHRNA2c.1302C>A (p.Gly434=)
c.1257C>A (p.Gly419=)
n.290-1387C>A
c.1236C>A (p.Gly412=)
c.*704C>A (n.*704C>A)
c.825C>A (p.Gly275=)
c.708C>A (p.Gly236=)
dbSNP
8g.27463142C>ACA370808940CHRNA2c.1301G>T (p.Gly434Val)
c.1256G>T (p.Gly419Val)
n.290-1388G>T
c.1235G>T (p.Gly412Val)
c.*703G>T (n.*703G>T)
c.824G>T (p.Gly275Val)
c.707G>T (p.Gly236Val)
gnomAD v4
8g.27463142C=CA1772813484CHRNA2c.1301G= (p.Gly434=)
c.1256G= (p.Gly419=)
n.290-1388G=
c.1235G= (p.Gly412=)
c.*703G= (n.*703G=)
c.824G= (p.Gly275=)
c.707G= (p.Gly236=)
8g.27463142C>GCA370808941CHRNA2c.1301G>C (p.Gly434Ala)
c.1256G>C (p.Gly419Ala)
n.290-1388G>C
c.1235G>C (p.Gly412Ala)
c.*703G>C (n.*703G>C)
c.824G>C (p.Gly275Ala)
c.707G>C (p.Gly236Ala)
8g.27463142C>TCA4689483CHRNA2c.1301G>A (p.Gly434Asp)
c.1256G>A (p.Gly419Asp)
n.290-1388G>A
c.1235G>A (p.Gly412Asp)
c.*703G>A (n.*703G>A)
c.824G>A (p.Gly275Asp)
c.707G>A (p.Gly236Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463143C>ACA370808942CHRNA2c.1300G>T (p.Gly434Cys)
c.1255G>T (p.Gly419Cys)
n.290-1389G>T
c.1234G>T (p.Gly412Cys)
c.*702G>T (n.*702G>T)
c.823G>T (p.Gly275Cys)
c.706G>T (p.Gly236Cys)
dbSNP gnomAD v2 gnomAD v4
8g.27463143C=CA1772813488CHRNA2c.1300G= (p.Gly434=)
c.1255G= (p.Gly419=)
n.290-1389G=
c.1234G= (p.Gly412=)
c.*702G= (n.*702G=)
c.823G= (p.Gly275=)
c.706G= (p.Gly236=)
8g.27463143C>GCA370808943CHRNA2c.1300G>C (p.Gly434Arg)
c.1255G>C (p.Gly419Arg)
n.290-1389G>C
c.1234G>C (p.Gly412Arg)
c.*702G>C (n.*702G>C)
c.823G>C (p.Gly275Arg)
c.706G>C (p.Gly236Arg)
8g.27463143C>TCA370808944CHRNA2c.1300G>A (p.Gly434Ser)
c.1255G>A (p.Gly419Ser)
n.290-1389G>A
c.1234G>A (p.Gly412Ser)
c.*702G>A (n.*702G>A)
c.823G>A (p.Gly275Ser)
c.706G>A (p.Gly236Ser)
8g.27463152_27463153insTGCCACAGAGGGCA1772813487CHRNA2c.1300_1301insCACCCTCTGTGG (p.Val433_Gly434insAlaProSerVal)
c.1255_1256insCACCCTCTGTGG (p.Val418_Gly419insAlaProSerVal)
n.290-1389_290-1388insCACCCTCTGTGG
c.1234_1235insCACCCTCTGTGG (p.Val411_Gly412insAlaProSerVal)
c.*702_*703insCACCCTCTGTGG (n.*702_*703insCACCCTCTGTGG)
c.823_824insCACCCTCTGTGG (p.Val274_Gly275insAlaProSerVal)
c.706_707insCACCCTCTGTGG (p.Val235_Gly236insAlaProSerVal)
dbSNP
8g.27463144C>ACA460186062CHRNA2c.1299G>T (p.Val433=)
c.1254G>T (p.Val418=)
n.290-1390G>T
c.1233G>T (p.Val411=)
c.*701G>T (n.*701G>T)
c.822G>T (p.Val274=)
c.705G>T (p.Val235=)
8g.27463144C=CA1772813490CHRNA2c.1299G= (p.Val433=)
c.1254G= (p.Val418=)
n.290-1390G=
c.1233G= (p.Val411=)
c.*701G= (n.*701G=)
c.822G= (p.Val274=)
c.705G= (p.Val235=)
8g.27463144C>GCA460186063CHRNA2c.1299G>C (p.Val433=)
c.1254G>C (p.Val418=)
n.290-1390G>C
c.1233G>C (p.Val411=)
c.*701G>C (n.*701G>C)
c.822G>C (p.Val274=)
c.705G>C (p.Val235=)
gnomAD v4
8g.27463144C>TCA460186064CHRNA2c.1299G>A (p.Val433=)
c.1254G>A (p.Val418=)
n.290-1390G>A
c.1233G>A (p.Val411=)
c.*701G>A (n.*701G>A)
c.822G>A (p.Val274=)
c.705G>A (p.Val235=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463145A=CA1772813494CHRNA2c.1298T= (p.Val433=)
c.1253T= (p.Val418=)
n.290-1391T=
c.1232T= (p.Val411=)
c.*700T= (n.*700T=)
c.821T= (p.Val274=)
c.704T= (p.Val235=)
8g.27463145A>CCA370808945CHRNA2c.1298T>G (p.Val433Gly)
c.1253T>G (p.Val418Gly)
n.290-1391T>G
c.1232T>G (p.Val411Gly)
c.*700T>G (n.*700T>G)
c.821T>G (p.Val274Gly)
c.704T>G (p.Val235Gly)
8g.27463145A>GCA370808946CHRNA2c.1298T>C (p.Val433Ala)
c.1253T>C (p.Val418Ala)
n.290-1391T>C
c.1232T>C (p.Val411Ala)
c.*700T>C (n.*700T>C)
c.821T>C (p.Val274Ala)
c.704T>C (p.Val235Ala)
dbSNP gnomAD v2 gnomAD v4
8g.27463145A>TCA370808947CHRNA2c.1298T>A (p.Val433Glu)
c.1253T>A (p.Val418Glu)
n.290-1391T>A
c.1232T>A (p.Val411Glu)
c.*700T>A (n.*700T>A)
c.821T>A (p.Val274Glu)
c.704T>A (p.Val235Glu)
8g.27463146C>ACA370808948CHRNA2c.1297G>T (p.Val433Leu)
c.1252G>T (p.Val418Leu)
n.290-1392G>T
c.1231G>T (p.Val411Leu)
c.*699G>T (n.*699G>T)
c.820G>T (p.Val274Leu)
c.703G>T (p.Val235Leu)
gnomAD v4
8g.27463146C>GCA370808949CHRNA2c.1297G>C (p.Val433Leu)
c.1252G>C (p.Val418Leu)
n.290-1392G>C
c.1231G>C (p.Val411Leu)
c.*699G>C (n.*699G>C)
c.820G>C (p.Val274Leu)
c.703G>C (p.Val235Leu)
8g.27463146C>TCA370808950CHRNA2c.1297G>A (p.Val433Met)
c.1252G>A (p.Val418Met)
n.290-1392G>A
c.1231G>A (p.Val411Met)
c.*699G>A (n.*699G>A)
c.820G>A (p.Val274Met)
c.703G>A (p.Val235Met)
8g.27463147A>CCA460186066CHRNA2c.1296T>G (p.Ser432=)
c.1251T>G (p.Ser417=)
n.290-1393T>G
c.1230T>G (p.Ser410=)
c.*698T>G (n.*698T>G)
c.819T>G (p.Ser273=)
c.702T>G (p.Ser234=)
8g.27463147A>GCA460186067CHRNA2c.1296T>C (p.Ser432=)
c.1251T>C (p.Ser417=)
n.290-1393T>C
c.1230T>C (p.Ser410=)
c.*698T>C (n.*698T>C)
c.819T>C (p.Ser273=)
c.702T>C (p.Ser234=)
8g.27463147A>TCA460186068CHRNA2c.1296T>A (p.Ser432=)
c.1251T>A (p.Ser417=)
n.290-1393T>A
c.1230T>A (p.Ser410=)
c.*698T>A (n.*698T>A)
c.819T>A (p.Ser273=)
c.702T>A (p.Ser234=)
8g.27463149_27463150delCA2686678219CHRNA2c.1295_1296del (p.Ser432CysfsTer20)
c.1250_1251del (p.Ser417CysfsTer20)
n.290-1394_290-1393del
c.1229_1230del (p.Ser410CysfsTer20)
c.*697_*698del (n.*697_*698del)
c.818_819del (p.Ser273CysfsTer20)
c.701_702del (p.Ser234CysfsTer20)
gnomAD v4
8g.27463148G>ACA370808952CHRNA2c.1295C>T (p.Ser432Phe)
c.1250C>T (p.Ser417Phe)
n.290-1394C>T
c.1229C>T (p.Ser410Phe)
c.*697C>T (n.*697C>T)
c.818C>T (p.Ser273Phe)
c.701C>T (p.Ser234Phe)
8g.27463148G>CCA370808953CHRNA2c.1295C>G (p.Ser432Cys)
c.1250C>G (p.Ser417Cys)
n.290-1394C>G
c.1229C>G (p.Ser410Cys)
c.*697C>G (n.*697C>G)
c.818C>G (p.Ser273Cys)
c.701C>G (p.Ser234Cys)
8g.27463148G>TCA370808951CHRNA2c.1295C>A (p.Ser432Tyr)
c.1250C>A (p.Ser417Tyr)
n.290-1394C>A
c.1229C>A (p.Ser410Tyr)
c.*697C>A (n.*697C>A)
c.818C>A (p.Ser273Tyr)
c.701C>A (p.Ser234Tyr)
8g.27463149A>CCA370808956CHRNA2c.1294T>G (p.Ser432Ala)
c.1249T>G (p.Ser417Ala)
n.290-1395T>G
c.1228T>G (p.Ser410Ala)
c.*696T>G (n.*696T>G)
c.817T>G (p.Ser273Ala)
c.700T>G (p.Ser234Ala)
ClinVar dbSNP
8g.27463149A>GCA370808954CHRNA2c.1294T>C (p.Ser432Pro)
c.1249T>C (p.Ser417Pro)
n.290-1395T>C
c.1228T>C (p.Ser410Pro)
c.*696T>C (n.*696T>C)
c.817T>C (p.Ser273Pro)
c.700T>C (p.Ser234Pro)
gnomAD v4
8g.27463149A>TCA370808955CHRNA2c.1294T>A (p.Ser432Thr)
c.1249T>A (p.Ser417Thr)
n.290-1395T>A
c.1228T>A (p.Ser410Thr)
c.*696T>A (n.*696T>A)
c.817T>A (p.Ser273Thr)
c.700T>A (p.Ser234Thr)
8g.27463149_27463150delinsAGCA1772813498CHRNA2c.1293_1294delinsCT (p.Pro431=)
c.1248_1249delinsCT (p.Pro416=)
n.290-1396_290-1395delinsCT
c.1227_1228delinsCT (p.Pro409=)
c.*695_*696delinsCT (n.*695_*696delinsCT)
c.816_817delinsCT (p.Pro272=)
c.699_700delinsCT (p.Pro233=)
8g.27463150G>ACA460186070CHRNA2c.1293C>T (p.Pro431=)
c.1248C>T (p.Pro416=)
n.290-1396C>T
c.1227C>T (p.Pro409=)
c.*695C>T (n.*695C>T)
c.816C>T (p.Pro272=)
c.699C>T (p.Pro233=)
8g.27463150G>CCA460186071CHRNA2c.1293C>G (p.Pro431=)
c.1248C>G (p.Pro416=)
n.290-1396C>G
c.1227C>G (p.Pro409=)
c.*695C>G (n.*695C>G)
c.816C>G (p.Pro272=)
c.699C>G (p.Pro233=)
8g.27463150G>TCA460186073CHRNA2c.1293C>A (p.Pro431=)
c.1248C>A (p.Pro416=)
n.290-1396C>A
c.1227C>A (p.Pro409=)
c.*695C>A (n.*695C>A)
c.816C>A (p.Pro272=)
c.699C>A (p.Pro233=)
gnomAD v4
8g.27463154dupCA2499219212CHRNA2c.1293dup (p.Ser432LeufsTer21)
c.1248dup (p.Ser417LeufsTer21)
n.290-1396dup
c.1227dup (p.Ser410LeufsTer21)
c.*695dup (n.*695dup)
c.816dup (p.Ser273LeufsTer21)
c.699dup (p.Ser234LeufsTer21)
ClinVar dbSNP gnomAD v4
8g.27463154delCA4689484CHRNA2c.1293del (p.Ser432LeufsTer?)
c.1248del (p.Ser417LeufsTer?)
n.290-1396del
c.1227del (p.Ser410LeufsTer?)
c.*695del (n.*695del)
c.816del (p.Ser273LeufsTer?)
c.699del (p.Ser234LeufsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463151G>ACA4689485CHRNA2c.1292C>T (p.Pro431Leu)
c.1247C>T (p.Pro416Leu)
n.290-1397C>T
c.1226C>T (p.Pro409Leu)
c.*694C>T (n.*694C>T)
c.815C>T (p.Pro272Leu)
c.698C>T (p.Pro233Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463151G>CCA370808957CHRNA2c.1292C>G (p.Pro431Arg)
c.1247C>G (p.Pro416Arg)
n.290-1397C>G
c.1226C>G (p.Pro409Arg)
c.*694C>G (n.*694C>G)
c.815C>G (p.Pro272Arg)
c.698C>G (p.Pro233Arg)
8g.27463151G=CA1772813501CHRNA2c.1292C= (p.Pro431=)
c.1247C= (p.Pro416=)
n.290-1397C=
c.1226C= (p.Pro409=)
c.*694C= (n.*694C=)
c.815C= (p.Pro272=)
c.698C= (p.Pro233=)
8g.27463151G>TCA370808958CHRNA2c.1292C>A (p.Pro431His)
c.1247C>A (p.Pro416His)
n.290-1397C>A
c.1226C>A (p.Pro409His)
c.*694C>A (n.*694C>A)
c.815C>A (p.Pro272His)
c.698C>A (p.Pro233His)
dbSNP gnomAD v3 gnomAD v4
8g.27463152G>ACA370808959CHRNA2c.1291C>T (p.Pro431Ser)
c.1246C>T (p.Pro416Ser)
n.290-1398C>T
c.1225C>T (p.Pro409Ser)
c.*693C>T (n.*693C>T)
c.814C>T (p.Pro272Ser)
c.697C>T (p.Pro233Ser)
8g.27463152G>CCA370808960CHRNA2c.1291C>G (p.Pro431Ala)
c.1246C>G (p.Pro416Ala)
n.290-1398C>G
c.1225C>G (p.Pro409Ala)
c.*693C>G (n.*693C>G)
c.814C>G (p.Pro272Ala)
c.697C>G (p.Pro233Ala)
8g.27463152G=CA1772813507CHRNA2c.1291C= (p.Pro431=)
c.1246C= (p.Pro416=)
n.290-1398C=
c.1225C= (p.Pro409=)
c.*693C= (n.*693C=)
c.814C= (p.Pro272=)
c.697C= (p.Pro233=)
8g.27463152G>TCA370808961CHRNA2c.1291C>A (p.Pro431Thr)
c.1246C>A (p.Pro416Thr)
n.290-1398C>A
c.1225C>A (p.Pro409Thr)
c.*693C>A (n.*693C>A)
c.814C>A (p.Pro272Thr)
c.697C>A (p.Pro233Thr)
8g.27463152_27463153insTCA580954914CHRNA2c.1290_1291insA (p.Pro431ThrfsTer22)
c.1245_1246insA (p.Pro416ThrfsTer22)
n.290-1399_290-1398insA
c.1224_1225insA (p.Pro409ThrfsTer22)
c.*692_*693insA (n.*692_*693insA)
c.813_814insA (p.Pro272ThrfsTer22)
c.696_697insA (p.Pro233ThrfsTer22)
dbSNP gnomAD v2 gnomAD v4
8g.27463153G>ACA460186078CHRNA2c.1290C>T (p.Ala430=)
c.1245C>T (p.Ala415=)
n.290-1399C>T
c.1224C>T (p.Ala408=)
c.*692C>T (n.*692C>T)
c.813C>T (p.Ala271=)
c.696C>T (p.Ala232=)
gnomAD v4
8g.27463153G>CCA460186079CHRNA2c.1290C>G (p.Ala430=)
c.1245C>G (p.Ala415=)
n.290-1399C>G
c.1224C>G (p.Ala408=)
c.*692C>G (n.*692C>G)
c.813C>G (p.Ala271=)
c.696C>G (p.Ala232=)
8g.27463153G=CA1772813511CHRNA2c.1290C= (p.Ala430=)
c.1245C= (p.Ala415=)
n.290-1399C=
c.1224C= (p.Ala408=)
c.*692C= (n.*692C=)
c.813C= (p.Ala271=)
c.696C= (p.Ala232=)
8g.27463153G>TCA460186080CHRNA2c.1290C>A (p.Ala430=)
c.1245C>A (p.Ala415=)
n.290-1399C>A
c.1224C>A (p.Ala408=)
c.*692C>A (n.*692C>A)
c.813C>A (p.Ala271=)
c.696C>A (p.Ala232=)
dbSNP
8g.27463153_27463154insCCACAGAGGGTCA580954915CHRNA2c.1289_1290insACCCTCTGTGG (p.Gly434AlafsTer?)
c.1244_1245insACCCTCTGTGG (p.Gly419AlafsTer?)
n.290-1400_290-1399insACCCTCTGTGG
c.1223_1224insACCCTCTGTGG (p.Gly412AlafsTer?)
c.*691_*692insACCCTCTGTGG (n.*691_*692insACCCTCTGTGG)
c.812_813insACCCTCTGTGG (p.Gly275AlafsTer?)
c.695_696insACCCTCTGTGG (p.Gly236AlafsTer?)
dbSNP gnomAD v2 gnomAD v4
8g.27463154G>ACA370808962CHRNA2c.1289C>T (p.Ala430Val)
c.1244C>T (p.Ala415Val)
n.290-1400C>T
c.1223C>T (p.Ala408Val)
c.*691C>T (n.*691C>T)
c.812C>T (p.Ala271Val)
c.695C>T (p.Ala232Val)
dbSNP gnomAD v2 gnomAD v4
8g.27463154G>CCA370808963CHRNA2c.1289C>G (p.Ala430Gly)
c.1244C>G (p.Ala415Gly)
n.290-1400C>G
c.1223C>G (p.Ala408Gly)
c.*691C>G (n.*691C>G)
c.812C>G (p.Ala271Gly)
c.695C>G (p.Ala232Gly)
8g.27463154G=CA1772813515CHRNA2c.1289C= (p.Ala430=)
c.1244C= (p.Ala415=)
n.290-1400C=
c.1223C= (p.Ala408=)
c.*691C= (n.*691C=)
c.812C= (p.Ala271=)
c.695C= (p.Ala232=)
8g.27463154G>TCA370808964CHRNA2c.1289C>A (p.Ala430Asp)
c.1244C>A (p.Ala415Asp)
n.290-1400C>A
c.1223C>A (p.Ala408Asp)
c.*691C>A (n.*691C>A)
c.812C>A (p.Ala271Asp)
c.695C>A (p.Ala232Asp)
dbSNP
8g.27463155C>ACA370808967CHRNA2c.1288G>T (p.Ala430Ser)
c.1243G>T (p.Ala415Ser)
n.290-1401G>T
c.1222G>T (p.Ala408Ser)
c.*690G>T (n.*690G>T)
c.811G>T (p.Ala271Ser)
c.694G>T (p.Ala232Ser)
gnomAD v4
8g.27463155C=CA1772813517CHRNA2c.1288G= (p.Ala430=)
c.1243G= (p.Ala415=)
n.290-1401G=
c.1222G= (p.Ala408=)
c.*690G= (n.*690G=)
c.811G= (p.Ala271=)
c.694G= (p.Ala232=)
8g.27463155C>GCA370808965CHRNA2c.1288G>C (p.Ala430Pro)
c.1243G>C (p.Ala415Pro)
n.290-1401G>C
c.1222G>C (p.Ala408Pro)
c.*690G>C (n.*690G>C)
c.811G>C (p.Ala271Pro)
c.694G>C (p.Ala232Pro)
8g.27463155C>TCA370808966CHRNA2c.1288G>A (p.Ala430Thr)
c.1243G>A (p.Ala415Thr)
n.290-1401G>A
c.1222G>A (p.Ala408Thr)
c.*690G>A (n.*690G>A)
c.811G>A (p.Ala271Thr)
c.694G>A (p.Ala232Thr)
dbSNP gnomAD v3 gnomAD v4
8g.27463156C>ACA460186083CHRNA2c.1287G>T (p.Val429=)
c.1242G>T (p.Val414=)
n.290-1402G>T
c.1221G>T (p.Val407=)
c.*689G>T (n.*689G>T)
c.810G>T (p.Val270=)
c.693G>T (p.Val231=)
gnomAD v4
8g.27463156C>GCA460186084CHRNA2c.1287G>C (p.Val429=)
c.1242G>C (p.Val414=)
n.290-1402G>C
c.1221G>C (p.Val407=)
c.*689G>C (n.*689G>C)
c.810G>C (p.Val270=)
c.693G>C (p.Val231=)
8g.27463156C>TCA460186085CHRNA2c.1287G>A (p.Val429=)
c.1242G>A (p.Val414=)
n.290-1402G>A
c.1221G>A (p.Val407=)
c.*689G>A (n.*689G>A)
c.810G>A (p.Val270=)
c.693G>A (p.Val231=)
8g.27463157A>CCA370808968CHRNA2c.1286T>G (p.Val429Gly)
c.1241T>G (p.Val414Gly)
n.290-1403T>G
c.1220T>G (p.Val407Gly)
c.*688T>G (n.*688T>G)
c.809T>G (p.Val270Gly)
c.692T>G (p.Val231Gly)
8g.27463157A>GCA370808969CHRNA2c.1286T>C (p.Val429Ala)
c.1241T>C (p.Val414Ala)
n.290-1403T>C
c.1220T>C (p.Val407Ala)
c.*688T>C (n.*688T>C)
c.809T>C (p.Val270Ala)
c.692T>C (p.Val231Ala)
8g.27463157A>TCA370808970CHRNA2c.1286T>A (p.Val429Glu)
c.1241T>A (p.Val414Glu)
n.290-1403T>A
c.1220T>A (p.Val407Glu)
c.*688T>A (n.*688T>A)
c.809T>A (p.Val270Glu)
c.692T>A (p.Val231Glu)
8g.27463158C>ACA370808971CHRNA2c.1285G>T (p.Val429Leu)
c.1240G>T (p.Val414Leu)
n.290-1404G>T
c.1219G>T (p.Val407Leu)
c.*687G>T (n.*687G>T)
c.808G>T (p.Val270Leu)
c.691G>T (p.Val231Leu)
gnomAD v4
8g.27463158C>GCA370808972CHRNA2c.1285G>C (p.Val429Leu)
c.1240G>C (p.Val414Leu)
n.290-1404G>C
c.1219G>C (p.Val407Leu)
c.*687G>C (n.*687G>C)
c.808G>C (p.Val270Leu)
c.691G>C (p.Val231Leu)
8g.27463158C>TCA370808973CHRNA2c.1285G>A (p.Val429Met)
c.1240G>A (p.Val414Met)
n.290-1404G>A
c.1219G>A (p.Val407Met)
c.*687G>A (n.*687G>A)
c.808G>A (p.Val270Met)
c.691G>A (p.Val231Met)
gnomAD v4 COSMIC
8g.27463159A>CCA370808974CHRNA2c.1284T>G (p.His428Gln)
c.1239T>G (p.His413Gln)
n.290-1405T>G
c.1218T>G (p.His406Gln)
c.*686T>G (n.*686T>G)
c.807T>G (p.His269Gln)
c.690T>G (p.His230Gln)
8g.27463159A>GCA460186087CHRNA2c.1284T>C (p.His428=)
c.1239T>C (p.His413=)
n.290-1405T>C
c.1218T>C (p.His406=)
c.*686T>C (n.*686T>C)
c.807T>C (p.His269=)
c.690T>C (p.His230=)
gnomAD v4
8g.27463159A>TCA370808975CHRNA2c.1284T>A (p.His428Gln)
c.1239T>A (p.His413Gln)
n.290-1405T>A
c.1218T>A (p.His406Gln)
c.*686T>A (n.*686T>A)
c.807T>A (p.His269Gln)
c.690T>A (p.His230Gln)
8g.27463160T>ACA370808976CHRNA2c.1283A>T (p.His428Leu)
c.1238A>T (p.His413Leu)
n.290-1406A>T
c.1217A>T (p.His406Leu)
c.*685A>T (n.*685A>T)
c.806A>T (p.His269Leu)
c.689A>T (p.His230Leu)
8g.27463160T>CCA370808977CHRNA2c.1283A>G (p.His428Arg)
c.1238A>G (p.His413Arg)
n.290-1406A>G
c.1217A>G (p.His406Arg)
c.*685A>G (n.*685A>G)
c.806A>G (p.His269Arg)
c.689A>G (p.His230Arg)
8g.27463160T>GCA370808978CHRNA2c.1283A>C (p.His428Pro)
c.1238A>C (p.His413Pro)
n.290-1406A>C
c.1217A>C (p.His406Pro)
c.*685A>C (n.*685A>C)
c.806A>C (p.His269Pro)
c.689A>C (p.His230Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463160T=CA1772813520CHRNA2c.1283A= (p.His428=)
c.1238A= (p.His413=)
n.290-1406A=
c.1217A= (p.His406=)
c.*685A= (n.*685A=)
c.806A= (p.His269=)
c.689A= (p.His230=)
8g.27463161G>ACA370808980CHRNA2c.1282C>T (p.His428Tyr)
c.1237C>T (p.His413Tyr)
n.290-1407C>T
c.1216C>T (p.His406Tyr)
c.*684C>T (n.*684C>T)
c.805C>T (p.His269Tyr)
c.688C>T (p.His230Tyr)
COSMIC
8g.27463161G>CCA370808981CHRNA2c.1282C>G (p.His428Asp)
c.1237C>G (p.His413Asp)
n.290-1407C>G
c.1216C>G (p.His406Asp)
c.*684C>G (n.*684C>G)
c.805C>G (p.His269Asp)
c.688C>G (p.His230Asp)
8g.27463161G>TCA370808979CHRNA2c.1282C>A (p.His428Asn)
c.1237C>A (p.His413Asn)
n.290-1407C>A
c.1216C>A (p.His406Asn)
c.*684C>A (n.*684C>A)
c.805C>A (p.His269Asn)
c.688C>A (p.His230Asn)
8g.27463162A>CCA460186092CHRNA2c.1281T>G (p.Gly427=)
c.1236T>G (p.Gly412=)
n.290-1408T>G
c.1215T>G (p.Gly405=)
c.*683T>G (n.*683T>G)
c.804T>G (p.Gly268=)
c.687T>G (p.Gly229=)
8g.27463162A>GCA460186093CHRNA2c.1281T>C (p.Gly427=)
c.1236T>C (p.Gly412=)
n.290-1408T>C
c.1215T>C (p.Gly405=)
c.*683T>C (n.*683T>C)
c.804T>C (p.Gly268=)
c.687T>C (p.Gly229=)
8g.27463162A>TCA460186094CHRNA2c.1281T>A (p.Gly427=)
c.1236T>A (p.Gly412=)
n.290-1408T>A
c.1215T>A (p.Gly405=)
c.*683T>A (n.*683T>A)
c.804T>A (p.Gly268=)
c.687T>A (p.Gly229=)
8g.27463163C>ACA370808982CHRNA2c.1280G>T (p.Gly427Val)
c.1235G>T (p.Gly412Val)
n.290-1409G>T
c.1214G>T (p.Gly405Val)
c.*682G>T (n.*682G>T)
c.803G>T (p.Gly268Val)
c.686G>T (p.Gly229Val)
8g.27463163C>GCA370808983CHRNA2c.1280G>C (p.Gly427Ala)
c.1235G>C (p.Gly412Ala)
n.290-1409G>C
c.1214G>C (p.Gly405Ala)
c.*682G>C (n.*682G>C)
c.803G>C (p.Gly268Ala)
c.686G>C (p.Gly229Ala)
gnomAD v4
8g.27463163C>TCA370808984CHRNA2c.1280G>A (p.Gly427Asp)
c.1235G>A (p.Gly412Asp)
n.290-1409G>A
c.1214G>A (p.Gly405Asp)
c.*682G>A (n.*682G>A)
c.803G>A (p.Gly268Asp)
c.686G>A (p.Gly229Asp)
gnomAD v4
8g.27463164C>ACA370808985CHRNA2c.1279G>T (p.Gly427Cys)
c.1234G>T (p.Gly412Cys)
n.290-1410G>T
c.1213G>T (p.Gly405Cys)
c.*681G>T (n.*681G>T)
c.802G>T (p.Gly268Cys)
c.685G>T (p.Gly229Cys)
8g.27463164C>GCA370808986CHRNA2c.1279G>C (p.Gly427Arg)
c.1234G>C (p.Gly412Arg)
n.290-1410G>C
c.1213G>C (p.Gly405Arg)
c.*681G>C (n.*681G>C)
c.802G>C (p.Gly268Arg)
c.685G>C (p.Gly229Arg)
8g.27463164C>TCA370808987CHRNA2c.1279G>A (p.Gly427Ser)
c.1234G>A (p.Gly412Ser)
n.290-1410G>A
c.1213G>A (p.Gly405Ser)
c.*681G>A (n.*681G>A)
c.802G>A (p.Gly268Ser)
c.685G>A (p.Gly229Ser)
gnomAD v4
8g.27463165T>ACA460186096CHRNA2c.1278A>T (p.Ala426=)
c.1233A>T (p.Ala411=)
n.290-1411A>T
c.1212A>T (p.Ala404=)
c.*680A>T (n.*680A>T)
c.801A>T (p.Ala267=)
c.684A>T (p.Ala228=)
8g.27463165T>CCA460186098CHRNA2c.1278A>G (p.Ala426=)
c.1233A>G (p.Ala411=)
n.290-1411A>G
c.1212A>G (p.Ala404=)
c.*680A>G (n.*680A>G)
c.801A>G (p.Ala267=)
c.684A>G (p.Ala228=)
dbSNP gnomAD v4 COSMIC
8g.27463165T>GCA460186097CHRNA2c.1278A>C (p.Ala426=)
c.1233A>C (p.Ala411=)
n.290-1411A>C
c.1212A>C (p.Ala404=)
c.*680A>C (n.*680A>C)
c.801A>C (p.Ala267=)
c.684A>C (p.Ala228=)
8g.27463165T=CA1772813522CHRNA2c.1278A= (p.Ala426=)
c.1233A= (p.Ala411=)
n.290-1411A=
c.1212A= (p.Ala404=)
c.*680A= (n.*680A=)
c.801A= (p.Ala267=)
c.684A= (p.Ala228=)
8g.27463166G>ACA370808989CHRNA2c.1277C>T (p.Ala426Val)
c.1232C>T (p.Ala411Val)
n.290-1412C>T
c.1211C>T (p.Ala404Val)
c.*679C>T (n.*679C>T)
c.800C>T (p.Ala267Val)
c.683C>T (p.Ala228Val)
ClinVar dbSNP gnomAD v4
8g.27463166G>CCA4689486CHRNA2c.1277C>G (p.Ala426Gly)
c.1232C>G (p.Ala411Gly)
n.290-1412C>G
c.1211C>G (p.Ala404Gly)
c.*679C>G (n.*679C>G)
c.800C>G (p.Ala267Gly)
c.683C>G (p.Ala228Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463166G=CA1772813526CHRNA2c.1277C= (p.Ala426=)
c.1232C= (p.Ala411=)
n.290-1412C=
c.1211C= (p.Ala404=)
c.*679C= (n.*679C=)
c.800C= (p.Ala267=)
c.683C= (p.Ala228=)
8g.27463166G>TCA370808988CHRNA2c.1277C>A (p.Ala426Glu)
c.1232C>A (p.Ala411Glu)
n.290-1412C>A
c.1211C>A (p.Ala404Glu)
c.*679C>A (n.*679C>A)
c.800C>A (p.Ala267Glu)
c.683C>A (p.Ala228Glu)
8g.27463167C>ACA370808990CHRNA2c.1276G>T (p.Ala426Ser)
c.1231G>T (p.Ala411Ser)
n.290-1413G>T
c.1210G>T (p.Ala404Ser)
c.*678G>T (n.*678G>T)
c.799G>T (p.Ala267Ser)
c.682G>T (p.Ala228Ser)
gnomAD v4
8g.27463167C>GCA370808991CHRNA2c.1276G>C (p.Ala426Pro)
c.1231G>C (p.Ala411Pro)
n.290-1413G>C
c.1210G>C (p.Ala404Pro)
c.*678G>C (n.*678G>C)
c.799G>C (p.Ala267Pro)
c.682G>C (p.Ala228Pro)
8g.27463167C>TCA370808992CHRNA2c.1276G>A (p.Ala426Thr)
c.1231G>A (p.Ala411Thr)
n.290-1413G>A
c.1210G>A (p.Ala404Thr)
c.*678G>A (n.*678G>A)
c.799G>A (p.Ala267Thr)
c.682G>A (p.Ala228Thr)
8g.27463168A=CA1772813529CHRNA2c.1275T= (p.Cys425=)
c.1230T= (p.Cys410=)
n.290-1414T=
c.1209T= (p.Cys403=)
c.*677T= (n.*677T=)
c.798T= (p.Cys266=)
c.681T= (p.Cys227=)
8g.27463168A>CCA370808993CHRNA2c.1275T>G (p.Cys425Trp)
c.1230T>G (p.Cys410Trp)
n.290-1414T>G
c.1209T>G (p.Cys403Trp)
c.*677T>G (n.*677T>G)
c.798T>G (p.Cys266Trp)
c.681T>G (p.Cys227Trp)
ClinVar
8g.27463168A>GCA460186103CHRNA2c.1275T>C (p.Cys425=)
c.1230T>C (p.Cys410=)
n.290-1414T>C
c.1209T>C (p.Cys403=)
c.*677T>C (n.*677T>C)
c.798T>C (p.Cys266=)
c.681T>C (p.Cys227=)
gnomAD v4
8g.27463168A>TCA4689487CHRNA2c.1275T>A (p.Cys425Ter)
c.1230T>A (p.Cys410Ter)
n.290-1414T>A
c.1209T>A (p.Cys403Ter)
c.*677T>A (n.*677T>A)
c.798T>A (p.Cys266Ter)
c.681T>A (p.Cys227Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463169C>ACA370808994CHRNA2c.1274G>T (p.Cys425Phe)
c.1229G>T (p.Cys410Phe)
n.290-1415G>T
c.1208G>T (p.Cys403Phe)
c.*676G>T (n.*676G>T)
c.797G>T (p.Cys266Phe)
c.680G>T (p.Cys227Phe)
8g.27463169C=CA1772813531CHRNA2c.1274G= (p.Cys425=)
c.1229G= (p.Cys410=)
n.290-1415G=
c.1208G= (p.Cys403=)
c.*676G= (n.*676G=)
c.797G= (p.Cys266=)
c.680G= (p.Cys227=)
8g.27463169C>GCA370808995CHRNA2c.1274G>C (p.Cys425Ser)
c.1229G>C (p.Cys410Ser)
n.290-1415G>C
c.1208G>C (p.Cys403Ser)
c.*676G>C (n.*676G>C)
c.797G>C (p.Cys266Ser)
c.680G>C (p.Cys227Ser)
8g.27463169C>TCA174241255CHRNA2c.1274G>A (p.Cys425Tyr)
c.1229G>A (p.Cys410Tyr)
n.290-1415G>A
c.1208G>A (p.Cys403Tyr)
c.*676G>A (n.*676G>A)
c.797G>A (p.Cys266Tyr)
c.680G>A (p.Cys227Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.27463170A=CA1772813532CHRNA2c.1273T= (p.Cys425=)
c.1228T= (p.Cys410=)
n.290-1416T=
c.1207T= (p.Cys403=)
c.*675T= (n.*675T=)
c.796T= (p.Cys266=)
c.679T= (p.Cys227=)
8g.27463170A>CCA370808996CHRNA2c.1273T>G (p.Cys425Gly)
c.1228T>G (p.Cys410Gly)
n.290-1416T>G
c.1207T>G (p.Cys403Gly)
c.*675T>G (n.*675T>G)
c.796T>G (p.Cys266Gly)
c.679T>G (p.Cys227Gly)
dbSNP gnomAD v2
8g.27463170A>GCA370808997CHRNA2c.1273T>C (p.Cys425Arg)
c.1228T>C (p.Cys410Arg)
n.290-1416T>C
c.1207T>C (p.Cys403Arg)
c.*675T>C (n.*675T>C)
c.796T>C (p.Cys266Arg)
c.679T>C (p.Cys227Arg)
ClinVar dbSNP gnomAD v4
8g.27463170A>TCA370808998CHRNA2c.1273T>A (p.Cys425Ser)
c.1228T>A (p.Cys410Ser)
n.290-1416T>A
c.1207T>A (p.Cys403Ser)
c.*675T>A (n.*675T>A)
c.796T>A (p.Cys266Ser)
c.679T>A (p.Cys227Ser)
ClinVar dbSNP
8g.27463171T>ACA460186107CHRNA2c.1272A>T (p.Ala424=)
c.1227A>T (p.Ala409=)
n.290-1417A>T
c.1206A>T (p.Ala402=)
c.*674A>T (n.*674A>T)
c.795A>T (p.Ala265=)
c.678A>T (p.Ala226=)
8g.27463171T>CCA460186108CHRNA2c.1272A>G (p.Ala424=)
c.1227A>G (p.Ala409=)
n.290-1417A>G
c.1206A>G (p.Ala402=)
c.*674A>G (n.*674A>G)
c.795A>G (p.Ala265=)
c.678A>G (p.Ala226=)
gnomAD v4
8g.27463171T>GCA460186109CHRNA2c.1272A>C (p.Ala424=)
c.1227A>C (p.Ala409=)
n.290-1417A>C
c.1206A>C (p.Ala402=)
c.*674A>C (n.*674A>C)
c.795A>C (p.Ala265=)
c.678A>C (p.Ala226=)
8g.27463172G>ACA370808999CHRNA2c.1271C>T (p.Ala424Val)
c.1226C>T (p.Ala409Val)
n.290-1418C>T
c.1205C>T (p.Ala402Val)
c.*673C>T (n.*673C>T)
c.794C>T (p.Ala265Val)
c.677C>T (p.Ala226Val)
gnomAD v4
8g.27463172G>CCA370809000CHRNA2c.1271C>G (p.Ala424Gly)
c.1226C>G (p.Ala409Gly)
n.290-1418C>G
c.1205C>G (p.Ala402Gly)
c.*673C>G (n.*673C>G)
c.794C>G (p.Ala265Gly)
c.677C>G (p.Ala226Gly)
8g.27463172G>TCA370809001CHRNA2c.1271C>A (p.Ala424Glu)
c.1226C>A (p.Ala409Glu)
n.290-1418C>A
c.1205C>A (p.Ala402Glu)
c.*673C>A (n.*673C>A)
c.794C>A (p.Ala265Glu)
c.677C>A (p.Ala226Glu)
8g.27463173C>ACA370809002CHRNA2c.1270G>T (p.Ala424Ser)
c.1225G>T (p.Ala409Ser)
n.290-1419G>T
c.1204G>T (p.Ala402Ser)
c.*672G>T (n.*672G>T)
c.793G>T (p.Ala265Ser)
c.676G>T (p.Ala226Ser)
ClinVar gnomAD v4
8g.27463173C=CA1772813535CHRNA2c.1270G= (p.Ala424=)
c.1225G= (p.Ala409=)
n.290-1419G=
c.1204G= (p.Ala402=)
c.*672G= (n.*672G=)
c.793G= (p.Ala265=)
c.676G= (p.Ala226=)
8g.27463173C>GCA370809003CHRNA2c.1270G>C (p.Ala424Pro)
c.1225G>C (p.Ala409Pro)
n.290-1419G>C
c.1204G>C (p.Ala402Pro)
c.*672G>C (n.*672G>C)
c.793G>C (p.Ala265Pro)
c.676G>C (p.Ala226Pro)
8g.27463173C>TCA4689488CHRNA2c.1270G>A (p.Ala424Thr)
c.1225G>A (p.Ala409Thr)
n.290-1419G>A
c.1204G>A (p.Ala402Thr)
c.*672G>A (n.*672G>A)
c.793G>A (p.Ala265Thr)
c.676G>A (p.Ala226Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.27463174C>ACA370809004CHRNA2c.1269G>T (p.Trp423Cys)
c.1224G>T (p.Trp408Cys)
n.290-1420G>T
c.1203G>T (p.Trp401Cys)
c.*671G>T (n.*671G>T)
c.792G>T (p.Trp264Cys)
c.675G>T (p.Trp225Cys)
gnomAD v4
8g.27463174C>GCA370809005CHRNA2c.1269G>C (p.Trp423Cys)
c.1224G>C (p.Trp408Cys)
n.290-1420G>C
c.1203G>C (p.Trp401Cys)
c.*671G>C (n.*671G>C)
c.792G>C (p.Trp264Cys)
c.675G>C (p.Trp225Cys)
8g.27463174C>TCA370809006CHRNA2c.1269G>A (p.Trp423Ter)
c.1224G>A (p.Trp408Ter)
n.290-1420G>A
c.1203G>A (p.Trp401Ter)
c.*671G>A (n.*671G>A)
c.792G>A (p.Trp264Ter)
c.675G>A (p.Trp225Ter)
gnomAD v4
8g.27463175C>ACA370809009CHRNA2c.1268G>T (p.Trp423Leu)
c.1223G>T (p.Trp408Leu)
n.290-1421G>T
c.1202G>T (p.Trp401Leu)
c.*670G>T (n.*670G>T)
c.791G>T (p.Trp264Leu)
c.674G>T (p.Trp225Leu)
8g.27463175C>GCA370809008CHRNA2c.1268G>C (p.Trp423Ser)
c.1223G>C (p.Trp408Ser)
n.290-1421G>C
c.1202G>C (p.Trp401Ser)
c.*670G>C (n.*670G>C)
c.791G>C (p.Trp264Ser)
c.674G>C (p.Trp225Ser)
8g.27463175C>TCA370809007CHRNA2c.1268G>A (p.Trp423Ter)
c.1223G>A (p.Trp408Ter)
n.290-1421G>A
c.1202G>A (p.Trp401Ter)
c.*670G>A (n.*670G>A)
c.791G>A (p.Trp264Ter)
c.674G>A (p.Trp225Ter)
8g.27463176A=CA1772813540CHRNA2c.1267T= (p.Trp423=)
c.1222T= (p.Trp408=)
n.290-1422T=
c.1201T= (p.Trp401=)
c.*669T= (n.*669T=)
c.790T= (p.Trp264=)
c.673T= (p.Trp225=)
8g.27463176A>CCA370809010CHRNA2c.1267T>G (p.Trp423Gly)
c.1222T>G (p.Trp408Gly)
n.290-1422T>G
c.1201T>G (p.Trp401Gly)
c.*669T>G (n.*669T>G)
c.790T>G (p.Trp264Gly)
c.673T>G (p.Trp225Gly)
8g.27463176A>GCA370809011CHRNA2c.1267T>C (p.Trp423Arg)
c.1222T>C (p.Trp408Arg)
n.290-1422T>C
c.1201T>C (p.Trp401Arg)
c.*669T>C (n.*669T>C)
c.790T>C (p.Trp264Arg)
c.673T>C (p.Trp225Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.27463176A>TCA370809012CHRNA2c.1267T>A (p.Trp423Arg)
c.1222T>A (p.Trp408Arg)
n.290-1422T>A
c.1201T>A (p.Trp401Arg)
c.*669T>A (n.*669T>A)
c.790T>A (p.Trp264Arg)
c.673T>A (p.Trp225Arg)
gnomAD v4
8g.27463177T>ACA370809013CHRNA2c.1266A>T (p.Arg422Ser)
c.1221A>T (p.Arg407Ser)
n.290-1423A>T
c.1200A>T (p.Arg400Ser)
c.*668A>T (n.*668A>T)
c.789A>T (p.Arg263Ser)
c.672A>T (p.Arg224Ser)
ClinVar dbSNP
8g.27463177T>CCA460186115CHRNA2c.1266A>G (p.Arg422=)
c.1221A>G (p.Arg407=)
n.290-1423A>G
c.1200A>G (p.Arg400=)
c.*668A>G (n.*668A>G)
c.789A>G (p.Arg263=)
c.672A>G (p.Arg224=)
8g.27463177T>GCA370809014CHRNA2c.1266A>C (p.Arg422Ser)
c.1221A>C (p.Arg407Ser)
n.290-1423A>C
c.1200A>C (p.Arg400Ser)
c.*668A>C (n.*668A>C)
c.789A>C (p.Arg263Ser)
c.672A>C (p.Arg224Ser)
8g.27463178C>ACA370809015CHRNA2c.1265G>T (p.Arg422Ile)
c.1220G>T (p.Arg407Ile)
n.290-1424G>T
c.1199G>T (p.Arg400Ile)
c.*667G>T (n.*667G>T)
c.788G>T (p.Arg263Ile)
c.671G>T (p.Arg224Ile)
8g.27463178C=CA1772813546CHRNA2c.1265G= (p.Arg422=)
c.1220G= (p.Arg407=)
n.290-1424G=
c.1199G= (p.Arg400=)
c.*667G= (n.*667G=)
c.788G= (p.Arg263=)
c.671G= (p.Arg224=)
8g.27463178C>GCA4689489CHRNA2c.1265G>C (p.Arg422Thr)
c.1220G>C (p.Arg407Thr)
n.290-1424G>C
c.1199G>C (p.Arg400Thr)
c.*667G>C (n.*667G>C)
c.788G>C (p.Arg263Thr)
c.671G>C (p.Arg224Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.27463178C>TCA370809016CHRNA2c.1265G>A (p.Arg422Lys)
c.1220G>A (p.Arg407Lys)
n.290-1424G>A
c.1199G>A (p.Arg400Lys)
c.*667G>A (n.*667G>A)
c.788G>A (p.Arg263Lys)
c.671G>A (p.Arg224Lys)

Number of alleles fetched