Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.27463078C>A | CA4689473 | CHRNA2 | c.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 |
8 | g.27463078C= | CA1772813378 | CHRNA2 | c.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=) | |
8 | g.27463078C>G | CA460046670 | CHRNA2 | c.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=) | |
8 | g.27463078C>T | CA460046671 | CHRNA2 | c.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 |
8 | g.27463079A= | CA1772813382 | CHRNA2 | c.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=) | |
8 | g.27463079A>C | CA370808102 | CHRNA2 | c.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) | |
8 | g.27463079A>G | CA370808105 | CHRNA2 | c.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 |
8 | g.27463079A>T | CA370808107 | CHRNA2 | c.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) | |
8 | g.27463080G>A | CA460046672 | CHRNA2 | c.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=) | |
8 | g.27463080G>C | CA370808109 | CHRNA2 | c.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) | |
8 | g.27463080G>T | CA370808110 | CHRNA2 | c.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) | |
8 | g.27463081C>A | CA460046673 | CHRNA2 | c.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=) | |
8 | g.27463081C>G | CA460046675 | CHRNA2 | c.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=) | |
8 | g.27463081C>T | CA460046674 | CHRNA2 | c.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 |
8 | g.27463082A= | CA1772813384 | CHRNA2 | c.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=) | |
8 | g.27463082A>C | CA370808117 | CHRNA2 | c.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) | |
8 | g.27463082A>G | CA174238448 | CHRNA2 | c.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 |
8 | g.27463082A>T | CA370808116 | CHRNA2 | c.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) | |
8 | g.27463082dup | CA2579127521 | CHRNA2 | c.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) | |
8 | g.27463083G>A | CA460046676 | CHRNA2 | c.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 |
8 | g.27463083G>C | CA370808118 | CHRNA2 | c.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 |
8 | g.27463083G>T | CA370808119 | CHRNA2 | c.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) | |
8 | g.27463084A>C | CA460046677 | CHRNA2 | c.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=) | |
8 | g.27463084A>G | CA460046678 | CHRNA2 | c.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=) | |
8 | g.27463084A>T | CA460046679 | CHRNA2 | c.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=) | |
8 | g.27463085G>A | CA370808120 | CHRNA2 | c.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 |
8 | g.27463085G>C | CA370808121 | CHRNA2 | c.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) | |
8 | g.27463085G>T | CA370808127 | CHRNA2 | c.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) | |
8 | g.27463086C>A | CA370808129 | CHRNA2 | c.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) | |
8 | g.27463086C>G | CA370808132 | CHRNA2 | c.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) | |
8 | g.27463086C>T | CA370808130 | CHRNA2 | c.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) | |
8 | g.27463087C>A | CA370808134 | CHRNA2 | c.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) | |
8 | g.27463087C>G | CA370808136 | CHRNA2 | c.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) | |
8 | g.27463087C>T | CA460046680 | CHRNA2 | c.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=) | |
8 | g.27463088T>A | CA370808140 | CHRNA2 | c.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) | |
8 | g.27463088T>C | CA370808141 | CHRNA2 | c.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) | |
8 | g.27463088T>G | CA370808144 | CHRNA2 | c.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) | |
8 | g.27463089C>A | CA4689474 | CHRNA2 | c.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 |
8 | g.27463089C= | CA1772813390 | CHRNA2 | c.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=) | |
8 | g.27463089C>G | CA370808147 | CHRNA2 | c.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) | |
8 | g.27463089C>T | CA370808149 | CHRNA2 | c.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 |
8 | g.27463090A>C | CA460046683 | CHRNA2 | c.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=) | |
8 | g.27463090A>G | CA460046682 | CHRNA2 | c.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=) | |
8 | g.27463090A>T | CA460046681 | CHRNA2 | c.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=) | |
8 | g.27463091G>A | CA4689475 | CHRNA2 | c.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 |
8 | g.27463091G>C | CA370808152 | CHRNA2 | c.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) | |
8 | g.27463091G= | CA1772813398 | CHRNA2 | c.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=) | |
8 | g.27463091G>T | CA370808153 | CHRNA2 | c.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) | |
8 | g.27463092C>A | CA370808156 | CHRNA2 | c.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) | |
8 | g.27463092C>G | CA370808160 | CHRNA2 | c.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) | |
8 | g.27463092C>T | CA370808158 | CHRNA2 | c.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 |
8 | g.27463093C>A | CA370808162 | CHRNA2 | c.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 |
8 | g.27463093C>G | CA370808164 | CHRNA2 | c.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) | |
8 | g.27463093C>T | CA460046684 | CHRNA2 | c.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=) | |
8 | g.27463094T>A | CA370808166 | CHRNA2 | c.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) | |
8 | g.27463094T>C | CA370808167 | CHRNA2 | c.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) | |
8 | g.27463094T>G | CA370808170 | CHRNA2 | c.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) | |
8 | g.27463095T>A | CA370808176 | CHRNA2 | c.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) | |
8 | g.27463095T>C | CA370808174 | CHRNA2 | c.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) | |
8 | g.27463095T>G | CA370808173 | CHRNA2 | c.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) | |
8 | g.27463096G>A | CA460046685 | CHRNA2 | c.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=) | |
8 | g.27463096G>C | CA460046686 | CHRNA2 | c.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=) | |
8 | g.27463096G>T | CA460046687 | CHRNA2 | c.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=) | |
8 | g.27463097G>A | CA370808177 | CHRNA2 | c.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) | |
8 | g.27463097G>C | CA370808179 | CHRNA2 | c.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 |
8 | g.27463097G>T | CA370808180 | CHRNA2 | c.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) | |
8 | g.27463098G>A | CA370808183 | CHRNA2 | c.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 |
8 | g.27463098G>C | CA370808185 | CHRNA2 | c.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 |
8 | g.27463098G= | CA1772813404 | CHRNA2 | c.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=) | |
8 | g.27463098G>T | CA370808187 | CHRNA2 | c.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) | |
8 | g.27463099A>C | CA460046688 | CHRNA2 | c.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=) | |
8 | g.27463099A>G | CA460046689 | CHRNA2 | c.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=) | |
8 | g.27463099A>T | CA460046690 | CHRNA2 | c.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=) | |
8 | g.27463100C>A | CA370808854 | CHRNA2 | c.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 |
8 | g.27463100C= | CA1772813407 | CHRNA2 | c.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=) | |
8 | g.27463100C>G | CA370808853 | CHRNA2 | c.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) | |
8 | g.27463100C>T | CA4689476 | CHRNA2 | c.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 |
8 | g.27463101C>A | CA370808855 | CHRNA2 | c.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) | |
8 | g.27463101C>G | CA370808856 | CHRNA2 | c.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) | |
8 | g.27463101C>T | CA370808857 | CHRNA2 | c.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) | |
8 | g.27463102T>A | CA460186023 | CHRNA2 | c.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=) | |
8 | g.27463102T>C | CA460186024 | CHRNA2 | c.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 |
8 | g.27463102T>G | CA460186025 | CHRNA2 | c.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=) | |
8 | g.27463102T= | CA1772813410 | CHRNA2 | c.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=) | |
8 | g.27463103G>A | CA370808858 | CHRNA2 | c.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 |
8 | g.27463103G>C | CA370808859 | CHRNA2 | c.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) | |
8 | g.27463103G= | CA1772813412 | CHRNA2 | c.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=) | |
8 | g.27463103G>T | CA370808860 | CHRNA2 | c.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) | |
8 | g.27463104A>C | CA370808861 | CHRNA2 | c.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) | |
8 | g.27463104A>G | CA370808862 | CHRNA2 | c.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) | |
8 | g.27463104A>T | CA370808863 | CHRNA2 | c.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) | |
8 | g.27463105G>A | CA460186026 | CHRNA2 | c.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 |
8 | g.27463105G>C | CA460186027 | CHRNA2 | c.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=) | |
8 | g.27463105G>T | CA460186028 | CHRNA2 | c.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=) | |
8 | g.27463106G>A | CA370808864 | CHRNA2 | c.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) | |
8 | g.27463106G>C | CA370808865 | CHRNA2 | c.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) | |
8 | g.27463106G>T | CA370808866 | CHRNA2 | c.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) | |
8 | g.27463107C>A | CA370808867 | CHRNA2 | c.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) | |
8 | g.27463107C>G | CA370808869 | CHRNA2 | c.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) | |
8 | g.27463107C>T | CA370808868 | CHRNA2 | c.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) | |
8 | g.27463108C>A | CA460186029 | CHRNA2 | c.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 |
8 | g.27463108C= | CA1772813415 | CHRNA2 | c.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=) | |
8 | g.27463108C>G | CA313421 | CHRNA2 | c.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 |
8 | g.27463108C>T | CA460186030 | CHRNA2 | c.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 |
8 | g.27463109C>A | CA370808870 | CHRNA2 | c.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 |
8 | g.27463109C= | CA1772813421 | CHRNA2 | c.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=) | |
8 | g.27463109C>G | CA4689477 | CHRNA2 | c.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 |
8 | g.27463109C>T | CA174241182 | CHRNA2 | c.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 |
8 | g.27463110C>A | CA370808871 | CHRNA2 | c.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) | |
8 | g.27463110C>G | CA370808872 | CHRNA2 | c.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) | |
8 | g.27463110C>T | CA370808873 | CHRNA2 | c.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) | |
8 | g.27463111A= | CA1772813428 | CHRNA2 | c.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=) | |
8 | g.27463111A>C | CA460186034 | CHRNA2 | c.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=) | |
8 | g.27463111A>G | CA460186033 | CHRNA2 | c.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=) | |
8 | g.27463111A>T | CA174241193 | CHRNA2 | c.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 |
8 | g.27463112G>A | CA370808874 | CHRNA2 | c.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) | |
8 | g.27463112G>C | CA4689478 | CHRNA2 | c.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 |
8 | g.27463112G= | CA1772813432 | CHRNA2 | c.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=) | |
8 | g.27463112G>T | CA370808875 | CHRNA2 | c.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) | |
8 | g.27463113A>C | CA370808878 | CHRNA2 | c.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) | |
8 | g.27463113A>G | CA370808877 | CHRNA2 | c.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 |
8 | g.27463113A>T | CA370808876 | CHRNA2 | c.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) | |
8 | g.27463114G>A | CA460186035 | CHRNA2 | c.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=) | |
8 | g.27463114G>C | CA370808879 | CHRNA2 | c.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) | |
8 | g.27463114G>T | CA370808880 | CHRNA2 | c.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) | |
8 | g.27463115T>A | CA370808881 | CHRNA2 | c.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) | |
8 | g.27463115T>C | CA370808882 | CHRNA2 | c.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 |
8 | g.27463115T>G | CA370808883 | CHRNA2 | c.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) | |
8 | g.27463115T= | CA1772813439 | CHRNA2 | c.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=) | |
8 | g.27463115_27463116delinsTG | CA1772813437 | CHRNA2 | c.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=) | |
8 | g.27463116del | CA4689479 | CHRNA2 | c.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 |
8 | g.27463116G>A | CA370808884 | CHRNA2 | c.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 |
8 | g.27463116G>C | CA370808885 | CHRNA2 | c.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) | |
8 | g.27463116G= | CA1772813442 | CHRNA2 | c.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=) | |
8 | g.27463116G>T | CA370808886 | CHRNA2 | c.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 |
8 | g.27463117C>A | CA460186036 | CHRNA2 | c.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=) | |
8 | g.27463117C>G | CA460186037 | CHRNA2 | c.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=) | |
8 | g.27463117C>T | CA460186038 | CHRNA2 | c.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 |
8 | g.27463118del | CA2579127522 | CHRNA2 | c.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?) | |
8 | g.27463118A>C | CA370808887 | CHRNA2 | c.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) | |
8 | g.27463118A>G | CA370808888 | CHRNA2 | c.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) | |
8 | g.27463118A>T | CA370808889 | CHRNA2 | c.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) | |
8 | g.27463119G>A | CA288706 | CHRNA2 | c.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 |
8 | g.27463119G>C | CA370808891 | CHRNA2 | c.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) | |
8 | g.27463119G= | CA1630835136 | CHRNA2 | c.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=) | |
8 | g.27463119G>T | CA370808890 | CHRNA2 | c.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) | |
8 | g.27463120G>A | CA460186040 | CHRNA2 | c.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 |
8 | g.27463120G>C | CA370808892 | CHRNA2 | c.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) | |
8 | g.27463120G>T | CA370808893 | CHRNA2 | c.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) | |
8 | g.27463121T>A | CA370808894 | CHRNA2 | c.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) | |
8 | g.27463121T>C | CA370808896 | CHRNA2 | c.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 |
8 | g.27463121T>G | CA370808895 | CHRNA2 | c.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) | |
8 | g.27463121T= | CA1772813447 | CHRNA2 | c.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=) | |
8 | g.27463122G>A | CA370808897 | CHRNA2 | c.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) | |
8 | g.27463122G>C | CA370808899 | CHRNA2 | c.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) | |
8 | g.27463122G>T | CA370808898 | CHRNA2 | c.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 |
8 | g.27463123G>A | CA460186041 | CHRNA2 | c.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 |
8 | g.27463123G>C | CA460186042 | CHRNA2 | c.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=) | |
8 | g.27463123G>T | CA460186043 | CHRNA2 | c.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=) | |
8 | g.27463124C>A | CA370808900 | CHRNA2 | c.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) | |
8 | g.27463124C= | CA1772813450 | CHRNA2 | c.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=) | |
8 | g.27463124C>G | CA370808901 | CHRNA2 | c.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) | |
8 | g.27463124C>T | CA4689480 | CHRNA2 | c.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 |
8 | g.27463125C>A | CA370808902 | CHRNA2 | c.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) | |
8 | g.27463125C= | CA1772813454 | CHRNA2 | c.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=) | |
8 | g.27463125C>G | CA370808903 | CHRNA2 | c.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 |
8 | g.27463125C>T | CA370808904 | CHRNA2 | c.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 |
8 | g.27463126G>A | CA4689481 | CHRNA2 | c.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 |
8 | g.27463126G>C | CA370808905 | CHRNA2 | c.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) | |
8 | g.27463126G= | CA1772813460 | CHRNA2 | c.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=) | |
8 | g.27463126G>T | CA370808906 | CHRNA2 | c.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 |
8 | g.27463127T>A | CA370808907 | CHRNA2 | c.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) | |
8 | g.27463127T>C | CA370808908 | CHRNA2 | c.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 |
8 | g.27463127T>G | CA370808909 | CHRNA2 | c.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) | |
8 | g.27463128G>A | CA370808912 | CHRNA2 | c.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 |
8 | g.27463128G>C | CA370808911 | CHRNA2 | c.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) | |
8 | g.27463128G>T | CA370808910 | CHRNA2 | c.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) | |
8 | g.27463129G>A | CA460186048 | CHRNA2 | c.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 |
8 | g.27463129G>C | CA370808913 | CHRNA2 | c.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) | |
8 | g.27463129G>T | CA370808914 | CHRNA2 | c.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) | |
8 | g.27463130C>A | CA370808915 | CHRNA2 | c.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) | |
8 | g.27463130C>G | CA370808916 | CHRNA2 | c.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) | |
8 | g.27463130C>T | CA370808917 | CHRNA2 | c.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) | |
8 | g.27463131T>A | CA370808918 | CHRNA2 | c.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) | |
8 | g.27463131T>C | CA370808919 | CHRNA2 | c.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) | |
8 | g.27463131T>G | CA370808920 | CHRNA2 | c.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) | |
8 | g.27463132del | CA2686678218 | CHRNA2 | c.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 |
8 | g.27463132G>A | CA460186052 | CHRNA2 | c.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 |
8 | g.27463132G>C | CA370808921 | CHRNA2 | c.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) | |
8 | g.27463132G>T | CA370808922 | CHRNA2 | c.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) | |
8 | g.27463132_27463144dup | CA2499219211 | CHRNA2 | c.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 |
8 | g.27463133C>A | CA370808923 | CHRNA2 | c.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) | |
8 | g.27463133C>G | CA370808924 | CHRNA2 | c.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) | |
8 | g.27463133C>T | CA370808925 | CHRNA2 | c.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 |
8 | g.27463134A>C | CA370808927 | CHRNA2 | c.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) | |
8 | g.27463134A>G | CA370808928 | CHRNA2 | c.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) | |
8 | g.27463134A>T | CA370808926 | CHRNA2 | c.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) | |
8 | g.27463135G>A | CA460186053 | CHRNA2 | c.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=) | |
8 | g.27463135G>C | CA460186054 | CHRNA2 | c.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=) | |
8 | g.27463135G>T | CA460186055 | CHRNA2 | c.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=) | |
8 | g.27463136A>C | CA370808929 | CHRNA2 | c.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) | |
8 | g.27463136A>G | CA370808930 | CHRNA2 | c.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 |
8 | g.27463136A>T | CA370808931 | CHRNA2 | c.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) | |
8 | g.27463137G>A | CA370808932 | CHRNA2 | c.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 |
8 | g.27463137G>C | CA370808933 | CHRNA2 | c.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) | |
8 | g.27463137G>T | CA370808934 | CHRNA2 | c.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 |
8 | g.27463138G>A | CA460186056 | CHRNA2 | c.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 |
8 | g.27463138G>C | CA460186057 | CHRNA2 | c.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=) | |
8 | g.27463138G>T | CA460186058 | CHRNA2 | c.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=) | |
8 | g.27463139G>A | CA370808935 | CHRNA2 | c.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 |
8 | g.27463139G>C | CA370808936 | CHRNA2 | c.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) | |
8 | g.27463139G= | CA1772813469 | CHRNA2 | c.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=) | |
8 | g.27463139G>T | CA370808937 | CHRNA2 | c.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 |
8 | g.27463140T>A | CA370808938 | CHRNA2 | c.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) | |
8 | g.27463140T>C | CA174241222 | CHRNA2 | c.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 |
8 | g.27463140T>G | CA370808939 | CHRNA2 | c.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 |
8 | g.27463140T= | CA1772813472 | CHRNA2 | c.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=) | |
8 | g.27463141G>A | CA4689482 | CHRNA2 | c.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 |
8 | g.27463141G>C | CA460186060 | CHRNA2 | c.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=) | |
8 | g.27463141G= | CA1772813478 | CHRNA2 | c.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=) | |
8 | g.27463141G>T | CA460186061 | CHRNA2 | c.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 |
8 | g.27463142C>A | CA370808940 | CHRNA2 | c.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 |
8 | g.27463142C= | CA1772813484 | CHRNA2 | c.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=) | |
8 | g.27463142C>G | CA370808941 | CHRNA2 | c.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) | |
8 | g.27463142C>T | CA4689483 | CHRNA2 | c.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 |
8 | g.27463143C>A | CA370808942 | CHRNA2 | c.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 |
8 | g.27463143C= | CA1772813488 | CHRNA2 | c.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=) | |
8 | g.27463143C>G | CA370808943 | CHRNA2 | c.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) | |
8 | g.27463143C>T | CA370808944 | CHRNA2 | c.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) | |
8 | g.27463152_27463153insTGCCACAGAGGG | CA1772813487 | CHRNA2 | c.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 |
8 | g.27463144C>A | CA460186062 | CHRNA2 | c.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=) | |
8 | g.27463144C= | CA1772813490 | CHRNA2 | c.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=) | |
8 | g.27463144C>G | CA460186063 | CHRNA2 | c.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 |
8 | g.27463144C>T | CA460186064 | CHRNA2 | c.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 |
8 | g.27463145A= | CA1772813494 | CHRNA2 | c.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=) | |
8 | g.27463145A>C | CA370808945 | CHRNA2 | c.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) | |
8 | g.27463145A>G | CA370808946 | CHRNA2 | c.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 |
8 | g.27463145A>T | CA370808947 | CHRNA2 | c.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) | |
8 | g.27463146C>A | CA370808948 | CHRNA2 | c.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 |
8 | g.27463146C>G | CA370808949 | CHRNA2 | c.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) | |
8 | g.27463146C>T | CA370808950 | CHRNA2 | c.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) | |
8 | g.27463147A>C | CA460186066 | CHRNA2 | c.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=) | |
8 | g.27463147A>G | CA460186067 | CHRNA2 | c.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=) | |
8 | g.27463147A>T | CA460186068 | CHRNA2 | c.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=) | |
8 | g.27463149_27463150del | CA2686678219 | CHRNA2 | c.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 |
8 | g.27463148G>A | CA370808952 | CHRNA2 | c.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) | |
8 | g.27463148G>C | CA370808953 | CHRNA2 | c.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) | |
8 | g.27463148G>T | CA370808951 | CHRNA2 | c.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) | |
8 | g.27463149A>C | CA370808956 | CHRNA2 | c.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 |
8 | g.27463149A>G | CA370808954 | CHRNA2 | c.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 |
8 | g.27463149A>T | CA370808955 | CHRNA2 | c.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) | |
8 | g.27463149_27463150delinsAG | CA1772813498 | CHRNA2 | c.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=) | |
8 | g.27463150G>A | CA460186070 | CHRNA2 | c.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=) | |
8 | g.27463150G>C | CA460186071 | CHRNA2 | c.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=) | |
8 | g.27463150G>T | CA460186073 | CHRNA2 | c.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 |
8 | g.27463154dup | CA2499219212 | CHRNA2 | c.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 |
8 | g.27463154del | CA4689484 | CHRNA2 | c.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 |
8 | g.27463151G>A | CA4689485 | CHRNA2 | c.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 |
8 | g.27463151G>C | CA370808957 | CHRNA2 | c.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) | |
8 | g.27463151G= | CA1772813501 | CHRNA2 | c.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=) | |
8 | g.27463151G>T | CA370808958 | CHRNA2 | c.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 |
8 | g.27463152G>A | CA370808959 | CHRNA2 | c.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) | |
8 | g.27463152G>C | CA370808960 | CHRNA2 | c.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) | |
8 | g.27463152G= | CA1772813507 | CHRNA2 | c.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=) | |
8 | g.27463152G>T | CA370808961 | CHRNA2 | c.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) | |
8 | g.27463152_27463153insT | CA580954914 | CHRNA2 | c.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 |
8 | g.27463153G>A | CA460186078 | CHRNA2 | c.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 |
8 | g.27463153G>C | CA460186079 | CHRNA2 | c.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=) | |
8 | g.27463153G= | CA1772813511 | CHRNA2 | c.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=) | |
8 | g.27463153G>T | CA460186080 | CHRNA2 | c.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 |
8 | g.27463153_27463154insCCACAGAGGGT | CA580954915 | CHRNA2 | c.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 |
8 | g.27463154G>A | CA370808962 | CHRNA2 | c.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 |
8 | g.27463154G>C | CA370808963 | CHRNA2 | c.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) | |
8 | g.27463154G= | CA1772813515 | CHRNA2 | c.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=) | |
8 | g.27463154G>T | CA370808964 | CHRNA2 | c.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 |
8 | g.27463155C>A | CA370808967 | CHRNA2 | c.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 |
8 | g.27463155C= | CA1772813517 | CHRNA2 | c.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=) | |
8 | g.27463155C>G | CA370808965 | CHRNA2 | c.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) | |
8 | g.27463155C>T | CA370808966 | CHRNA2 | c.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 |
8 | g.27463156C>A | CA460186083 | CHRNA2 | c.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 |
8 | g.27463156C>G | CA460186084 | CHRNA2 | c.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=) | |
8 | g.27463156C>T | CA460186085 | CHRNA2 | c.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=) | |
8 | g.27463157A>C | CA370808968 | CHRNA2 | c.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) | |
8 | g.27463157A>G | CA370808969 | CHRNA2 | c.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) | |
8 | g.27463157A>T | CA370808970 | CHRNA2 | c.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) | |
8 | g.27463158C>A | CA370808971 | CHRNA2 | c.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 |
8 | g.27463158C>G | CA370808972 | CHRNA2 | c.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) | |
8 | g.27463158C>T | CA370808973 | CHRNA2 | c.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 |
8 | g.27463159A>C | CA370808974 | CHRNA2 | c.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) | |
8 | g.27463159A>G | CA460186087 | CHRNA2 | c.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 |
8 | g.27463159A>T | CA370808975 | CHRNA2 | c.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) | |
8 | g.27463160T>A | CA370808976 | CHRNA2 | c.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) | |
8 | g.27463160T>C | CA370808977 | CHRNA2 | c.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) | |
8 | g.27463160T>G | CA370808978 | CHRNA2 | c.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 |
8 | g.27463160T= | CA1772813520 | CHRNA2 | c.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=) | |
8 | g.27463161G>A | CA370808980 | CHRNA2 | c.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 |
8 | g.27463161G>C | CA370808981 | CHRNA2 | c.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) | |
8 | g.27463161G>T | CA370808979 | CHRNA2 | c.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) | |
8 | g.27463162A>C | CA460186092 | CHRNA2 | c.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=) | |
8 | g.27463162A>G | CA460186093 | CHRNA2 | c.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=) | |
8 | g.27463162A>T | CA460186094 | CHRNA2 | c.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=) | |
8 | g.27463163C>A | CA370808982 | CHRNA2 | c.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) | |
8 | g.27463163C>G | CA370808983 | CHRNA2 | c.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 |
8 | g.27463163C>T | CA370808984 | CHRNA2 | c.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 |
8 | g.27463164C>A | CA370808985 | CHRNA2 | c.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) | |
8 | g.27463164C>G | CA370808986 | CHRNA2 | c.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) | |
8 | g.27463164C>T | CA370808987 | CHRNA2 | c.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 |
8 | g.27463165T>A | CA460186096 | CHRNA2 | c.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=) | |
8 | g.27463165T>C | CA460186098 | CHRNA2 | c.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 |
8 | g.27463165T>G | CA460186097 | CHRNA2 | c.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=) | |
8 | g.27463165T= | CA1772813522 | CHRNA2 | c.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=) | |
8 | g.27463166G>A | CA370808989 | CHRNA2 | c.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 |
8 | g.27463166G>C | CA4689486 | CHRNA2 | c.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 |
8 | g.27463166G= | CA1772813526 | CHRNA2 | c.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=) | |
8 | g.27463166G>T | CA370808988 | CHRNA2 | c.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) | |
8 | g.27463167C>A | CA370808990 | CHRNA2 | c.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 |
8 | g.27463167C>G | CA370808991 | CHRNA2 | c.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) | |
8 | g.27463167C>T | CA370808992 | CHRNA2 | c.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) | |
8 | g.27463168A= | CA1772813529 | CHRNA2 | c.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=) | |
8 | g.27463168A>C | CA370808993 | CHRNA2 | c.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 |
8 | g.27463168A>G | CA460186103 | CHRNA2 | c.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 |
8 | g.27463168A>T | CA4689487 | CHRNA2 | c.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 |
8 | g.27463169C>A | CA370808994 | CHRNA2 | c.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) | |
8 | g.27463169C= | CA1772813531 | CHRNA2 | c.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=) | |
8 | g.27463169C>G | CA370808995 | CHRNA2 | c.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) | |
8 | g.27463169C>T | CA174241255 | CHRNA2 | c.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 |
8 | g.27463170A= | CA1772813532 | CHRNA2 | c.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=) | |
8 | g.27463170A>C | CA370808996 | CHRNA2 | c.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 |
8 | g.27463170A>G | CA370808997 | CHRNA2 | c.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 |
8 | g.27463170A>T | CA370808998 | CHRNA2 | c.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 |
8 | g.27463171T>A | CA460186107 | CHRNA2 | c.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=) | |
8 | g.27463171T>C | CA460186108 | CHRNA2 | c.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 |
8 | g.27463171T>G | CA460186109 | CHRNA2 | c.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=) | |
8 | g.27463172G>A | CA370808999 | CHRNA2 | c.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 |
8 | g.27463172G>C | CA370809000 | CHRNA2 | c.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) | |
8 | g.27463172G>T | CA370809001 | CHRNA2 | c.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) | |
8 | g.27463173C>A | CA370809002 | CHRNA2 | c.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 |
8 | g.27463173C= | CA1772813535 | CHRNA2 | c.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=) | |
8 | g.27463173C>G | CA370809003 | CHRNA2 | c.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) | |
8 | g.27463173C>T | CA4689488 | CHRNA2 | c.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 |
8 | g.27463174C>A | CA370809004 | CHRNA2 | c.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 |
8 | g.27463174C>G | CA370809005 | CHRNA2 | c.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) | |
8 | g.27463174C>T | CA370809006 | CHRNA2 | c.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 |
8 | g.27463175C>A | CA370809009 | CHRNA2 | c.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) | |
8 | g.27463175C>G | CA370809008 | CHRNA2 | c.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) | |
8 | g.27463175C>T | CA370809007 | CHRNA2 | c.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) | |
8 | g.27463176A= | CA1772813540 | CHRNA2 | c.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=) | |
8 | g.27463176A>C | CA370809010 | CHRNA2 | c.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) | |
8 | g.27463176A>G | CA370809011 | CHRNA2 | c.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 |
8 | g.27463176A>T | CA370809012 | CHRNA2 | c.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 |
8 | g.27463177T>A | CA370809013 | CHRNA2 | c.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 |
8 | g.27463177T>C | CA460186115 | CHRNA2 | c.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=) | |
8 | g.27463177T>G | CA370809014 | CHRNA2 | c.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) | |
8 | g.27463178C>A | CA370809015 | CHRNA2 | c.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) | |
8 | g.27463178C= | CA1772813546 | CHRNA2 | c.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=) | |
8 | g.27463178C>G | CA4689489 | CHRNA2 | c.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 |
8 | g.27463178C>T | CA370809016 | CHRNA2 | c.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) |