Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933013C>ACA397316318CHRNE,GP1BAc.409C>A (p.Arg137Ser)
c.-888+1329G>T (n.-888+1329G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933013C=CA2244625397CHRNE,GP1BAc.409C= (p.Arg137=)
c.-888+1329G= (n.-888+1329G=)
17g.4933013C>GCA397316320CHRNE,GP1BAc.409C>G (p.Arg137Gly)
c.-888+1329G>C (n.-888+1329G>C)
17g.4933013C>TCA397316321CHRNE,GP1BAc.409C>T (p.Arg137Cys)
c.-888+1329G>A (n.-888+1329G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933014G>ACA8314767CHRNE,GP1BAc.410G>A (p.Arg137His)
c.-888+1328C>T (n.-888+1328C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933014G>CCA397316324CHRNE,GP1BAc.410G>C (p.Arg137Pro)
c.-888+1328C>G (n.-888+1328C>G)
17g.4933014G=CA2244625398CHRNE,GP1BAc.410G= (p.Arg137=)
c.-888+1328C= (n.-888+1328C=)
17g.4933014G>TCA397316326CHRNE,GP1BAc.410G>T (p.Arg137Leu)
c.-888+1328C>A (n.-888+1328C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933015T>ACA497677340CHRNE,GP1BAc.411T>A (p.Arg137=)
c.-888+1327A>T (n.-888+1327A>T)
17g.4933015T>CCA497677339CHRNE,GP1BAc.411T>C (p.Arg137=)
c.-888+1327A>G (n.-888+1327A>G)
17g.4933015T>GCA497677338CHRNE,GP1BAc.411T>G (p.Arg137=)
c.-888+1327A>C (n.-888+1327A>C)
17g.4933016G>ACA397316330CHRNE,GP1BAc.412G>A (p.Gly138Ser)
c.-888+1326C>T (n.-888+1326C>T)
17g.4933016G>CCA397316329CHRNE,GP1BAc.412G>C (p.Gly138Arg)
c.-888+1326C>G (n.-888+1326C>G)
17g.4933016G=CA2244625399CHRNE,GP1BAc.412G= (p.Gly138=)
c.-888+1326C= (n.-888+1326C=)
17g.4933016G>TCA287216070CHRNE,GP1BAc.412G>T (p.Gly138Cys)
c.-888+1326C>A (n.-888+1326C>A)
 dbSNP
17g.4933017G>ACA397316331CHRNE,GP1BAc.413G>A (p.Gly138Asp)
c.-888+1325C>T (n.-888+1325C>T)
17g.4933017G>CCA397316332CHRNE,GP1BAc.413G>C (p.Gly138Ala)
c.-888+1325C>G (n.-888+1325C>G)
17g.4933017G=CA2244625400CHRNE,GP1BAc.413G= (p.Gly138=)
c.-888+1325C= (n.-888+1325C=)
17g.4933017G>TCA397316334CHRNE,GP1BAc.413G>T (p.Gly138Val)
c.-888+1325C>A (n.-888+1325C>A)
 ClinVar dbSNP
17g.4933018T>ACA497677342CHRNE,GP1BAc.414T>A (p.Gly138=)
c.-888+1324A>T (n.-888+1324A>T)
17g.4933018T>CCA497677343CHRNE,GP1BAc.414T>C (p.Gly138=)
c.-888+1324A>G (n.-888+1324A>G)
17g.4933018T>GCA497677344CHRNE,GP1BAc.414T>G (p.Gly138=)
c.-888+1324A>C (n.-888+1324A>C)
17g.4933019C>ACA397316336CHRNE,GP1BAc.415C>A (p.Leu139Ile)
c.-888+1323G>T (n.-888+1323G>T)
17g.4933019C=CA2244625401CHRNE,GP1BAc.415C= (p.Leu139=)
c.-888+1323G= (n.-888+1323G=)
17g.4933019C>GCA397316338CHRNE,GP1BAc.415C>G (p.Leu139Val)
c.-888+1323G>C (n.-888+1323G>C)
17g.4933019C>TCA8314768CHRNE,GP1BAc.415C>T (p.Leu139Phe)
c.-888+1323G>A (n.-888+1323G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933020T>ACA397316341CHRNE,GP1BAc.416T>A (p.Leu139His)
c.-888+1322A>T (n.-888+1322A>T)
17g.4933020T>CCA397316342CHRNE,GP1BAc.416T>C (p.Leu139Pro)
c.-888+1322A>G (n.-888+1322A>G)
 dbSNP gnomAD v4
17g.4933020T>GCA397316343CHRNE,GP1BAc.416T>G (p.Leu139Arg)
c.-888+1322A>C (n.-888+1322A>C)
17g.4933020T=CA2244625402CHRNE,GP1BAc.416T= (p.Leu139=)
c.-888+1322A= (n.-888+1322A=)
17g.4933021T>ACA497677347CHRNE,GP1BAc.417T>A (p.Leu139=)
c.-888+1321A>T (n.-888+1321A>T)
17g.4933021T>CCA497677350CHRNE,GP1BAc.417T>C (p.Leu139=)
c.-888+1321A>G (n.-888+1321A>G)
17g.4933021T>GCA497677349CHRNE,GP1BAc.417T>G (p.Leu139=)
c.-888+1321A>C (n.-888+1321A>C)
17g.4933022G>ACA397316345CHRNE,GP1BAc.418G>A (p.Gly140Ser)
c.-888+1320C>T (n.-888+1320C>T)
17g.4933022G>CCA397316348CHRNE,GP1BAc.418G>C (p.Gly140Arg)
c.-888+1320C>G (n.-888+1320C>G)
17g.4933022G>TCA397316354CHRNE,GP1BAc.418G>T (p.Gly140Cys)
c.-888+1320C>A (n.-888+1320C>A)
17g.4933023G>ACA397316358CHRNE,GP1BAc.419G>A (p.Gly140Asp)
c.-888+1319C>T (n.-888+1319C>T)
17g.4933023G>CCA397316360CHRNE,GP1BAc.419G>C (p.Gly140Ala)
c.-888+1319C>G (n.-888+1319C>G)
17g.4933023G>TCA397316356CHRNE,GP1BAc.419G>T (p.Gly140Val)
c.-888+1319C>A (n.-888+1319C>A)
17g.4933024C>ACA8314770CHRNE,GP1BAc.420C>A (p.Gly140=)
c.-888+1318G>T (n.-888+1318G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933024C=CA2244625403CHRNE,GP1BAc.420C= (p.Gly140=)
c.-888+1318G= (n.-888+1318G=)
17g.4933024C>GCA497677352CHRNE,GP1BAc.420C>G (p.Gly140=)
c.-888+1318G>C (n.-888+1318G>C)
17g.4933024C>TCA8314769CHRNE,GP1BAc.420C>T (p.Gly140=)
c.-888+1318G>A (n.-888+1318G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933025G>ACA8314771CHRNE,GP1BAc.421G>A (p.Glu141Lys)
c.-888+1317C>T (n.-888+1317C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933025G>CCA397316371CHRNE,GP1BAc.421G>C (p.Glu141Gln)
c.-888+1317C>G (n.-888+1317C>G)
17g.4933025G=CA2244625404CHRNE,GP1BAc.421G= (p.Glu141=)
c.-888+1317C= (n.-888+1317C=)
17g.4933025G>TCA397316375CHRNE,GP1BAc.421G>T (p.Glu141Ter)
c.-888+1317C>A (n.-888+1317C>A)
17g.4933026A>CCA397316379CHRNE,GP1BAc.422A>C (p.Glu141Ala)
c.-888+1316T>G (n.-888+1316T>G)
17g.4933026A>GCA397316382CHRNE,GP1BAc.422A>G (p.Glu141Gly)
c.-888+1316T>C (n.-888+1316T>C)
17g.4933026A>TCA397316388CHRNE,GP1BAc.422A>T (p.Glu141Val)
c.-888+1316T>A (n.-888+1316T>A)
17g.4933027A>CCA397316390CHRNE,GP1BAc.423A>C (p.Glu141Asp)
c.-888+1315T>G (n.-888+1315T>G)
17g.4933027A>GCA497677354CHRNE,GP1BAc.423A>G (p.Glu141=)
c.-888+1315T>C (n.-888+1315T>C)
17g.4933027A>TCA397316391CHRNE,GP1BAc.423A>T (p.Glu141Asp)
c.-888+1315T>A (n.-888+1315T>A)
17g.4933028C>ACA8314772CHRNE,GP1BAc.424C>A (p.Leu142Ile)
c.-888+1314G>T (n.-888+1314G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933028C=CA2244625405CHRNE,GP1BAc.424C= (p.Leu142=)
c.-888+1314G= (n.-888+1314G=)
17g.4933028C>GCA397316397CHRNE,GP1BAc.424C>G (p.Leu142Val)
c.-888+1314G>C (n.-888+1314G>C)
 gnomAD v4
17g.4933028C>TCA397316400CHRNE,GP1BAc.424C>T (p.Leu142Phe)
c.-888+1314G>A (n.-888+1314G>A)
17g.4933029T>ACA8314773CHRNE,GP1BAc.425T>A (p.Leu142His)
c.-888+1313A>T (n.-888+1313A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933029T>CCA397316409CHRNE,GP1BAc.425T>C (p.Leu142Pro)
c.-888+1313A>G (n.-888+1313A>G)
17g.4933029T>GCA397316404CHRNE,GP1BAc.425T>G (p.Leu142Arg)
c.-888+1313A>C (n.-888+1313A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933029T=CA2244625406CHRNE,GP1BAc.425T= (p.Leu142=)
c.-888+1313A= (n.-888+1313A=)
17g.4933030C>ACA497677356CHRNE,GP1BAc.426C>A (p.Leu142=)
c.-888+1312G>T (n.-888+1312G>T)
17g.4933030C>GCA497677357CHRNE,GP1BAc.426C>G (p.Leu142=)
c.-888+1312G>C (n.-888+1312G>C)
17g.4933030C>TCA497677358CHRNE,GP1BAc.426C>T (p.Leu142=)
c.-888+1312G>A (n.-888+1312G>A)
17g.4933031C>ACA397316418CHRNE,GP1BAc.427C>A (p.Gln143Lys)
c.-888+1311G>T (n.-888+1311G>T)
17g.4933031C>GCA397316421CHRNE,GP1BAc.427C>G (p.Gln143Glu)
c.-888+1311G>C (n.-888+1311G>C)
17g.4933031C>TCA397316425CHRNE,GP1BAc.427C>T (p.Gln143Ter)
c.-888+1311G>A (n.-888+1311G>A)
17g.4933032A>CCA397316428CHRNE,GP1BAc.428A>C (p.Gln143Pro)
c.-888+1310T>G (n.-888+1310T>G)
17g.4933032A>GCA397316432CHRNE,GP1BAc.428A>G (p.Gln143Arg)
c.-888+1310T>C (n.-888+1310T>C)
17g.4933032A>TCA397316436CHRNE,GP1BAc.428A>T (p.Gln143Leu)
c.-888+1310T>A (n.-888+1310T>A)
17g.4933033A>CCA397316439CHRNE,GP1BAc.429A>C (p.Gln143His)
c.-888+1309T>G (n.-888+1309T>G)
17g.4933033A>GCA497677361CHRNE,GP1BAc.429A>G (p.Gln143=)
c.-888+1309T>C (n.-888+1309T>C)
17g.4933033A>TCA397316443CHRNE,GP1BAc.429A>T (p.Gln143His)
c.-888+1309T>A (n.-888+1309T>A)
17g.4933034G>ACA397316451CHRNE,GP1BAc.430G>A (p.Glu144Lys)
c.-888+1308C>T (n.-888+1308C>T)
17g.4933034G>CCA397316454CHRNE,GP1BAc.430G>C (p.Glu144Gln)
c.-888+1308C>G (n.-888+1308C>G)
17g.4933034G>TCA397316459CHRNE,GP1BAc.430G>T (p.Glu144Ter)
c.-888+1308C>A (n.-888+1308C>A)
17g.4933035A>CCA397316463CHRNE,GP1BAc.431A>C (p.Glu144Ala)
c.-888+1307T>G (n.-888+1307T>G)
17g.4933035A>GCA397316479CHRNE,GP1BAc.431A>G (p.Glu144Gly)
c.-888+1307T>C (n.-888+1307T>C)
17g.4933035A>TCA397316482CHRNE,GP1BAc.431A>T (p.Glu144Val)
c.-888+1307T>A (n.-888+1307T>A)
17g.4933036G>ACA497677366CHRNE,GP1BAc.432G>A (p.Glu144=)
c.-888+1306C>T (n.-888+1306C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4933036G>CCA397316485CHRNE,GP1BAc.432G>C (p.Glu144Asp)
c.-888+1306C>G (n.-888+1306C>G)
17g.4933036G=CA2244625407CHRNE,GP1BAc.432G= (p.Glu144=)
c.-888+1306C= (n.-888+1306C=)
17g.4933036G>TCA397316488CHRNE,GP1BAc.432G>T (p.Glu144Asp)
c.-888+1306C>A (n.-888+1306C>A)
17g.4933037C>ACA397316492CHRNE,GP1BAc.433C>A (p.Leu145Ile)
c.-888+1305G>T (n.-888+1305G>T)
17g.4933037C=CA2244625408CHRNE,GP1BAc.433C= (p.Leu145=)
c.-888+1305G= (n.-888+1305G=)
17g.4933037C>GCA397316494CHRNE,GP1BAc.433C>G (p.Leu145Val)
c.-888+1305G>C (n.-888+1305G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933037C>TCA397316497CHRNE,GP1BAc.433C>T (p.Leu145Phe)
c.-888+1305G>A (n.-888+1305G>A)
17g.4933038T>ACA397316512CHRNE,GP1BAc.434T>A (p.Leu145His)
c.-888+1304A>T (n.-888+1304A>T)
17g.4933038T>CCA8314774CHRNE,GP1BAc.434T>C (p.Leu145Pro)
c.-888+1304A>G (n.-888+1304A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933038T>GCA397316519CHRNE,GP1BAc.434T>G (p.Leu145Arg)
c.-888+1304A>C (n.-888+1304A>C)
17g.4933038T=CA2244625409CHRNE,GP1BAc.434T= (p.Leu145=)
c.-888+1304A= (n.-888+1304A=)
17g.4933039C>ACA497677368CHRNE,GP1BAc.435C>A (p.Leu145=)
c.-888+1303G>T (n.-888+1303G>T)
17g.4933039C>GCA497677369CHRNE,GP1BAc.435C>G (p.Leu145=)
c.-888+1303G>C (n.-888+1303G>C)
 COSMIC
17g.4933039C>TCA497677370CHRNE,GP1BAc.435C>T (p.Leu145=)
c.-888+1303G>A (n.-888+1303G>A)
17g.4933040T>ACA397316523CHRNE,GP1BAc.436T>A (p.Tyr146Asn)
c.-888+1302A>T (n.-888+1302A>T)
17g.4933040T>CCA8314775CHRNE,GP1BAc.436T>C (p.Tyr146His)
c.-888+1302A>G (n.-888+1302A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933040T>GCA397316528CHRNE,GP1BAc.436T>G (p.Tyr146Asp)
c.-888+1302A>C (n.-888+1302A>C)
17g.4933040T=CA2244625410CHRNE,GP1BAc.436T= (p.Tyr146=)
c.-888+1302A= (n.-888+1302A=)
17g.4933041A=CA2244625411CHRNE,GP1BAc.437A= (p.Tyr146=)
c.-888+1301T= (n.-888+1301T=)
17g.4933041A>CCA397316531CHRNE,GP1BAc.437A>C (p.Tyr146Ser)
c.-888+1301T>G (n.-888+1301T>G)
 gnomAD v4
17g.4933041A>GCA397316535CHRNE,GP1BAc.437A>G (p.Tyr146Cys)
c.-888+1301T>C (n.-888+1301T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933041A>TCA397316538CHRNE,GP1BAc.437A>T (p.Tyr146Phe)
c.-888+1301T>A (n.-888+1301T>A)
17g.4933042C>ACA397316541CHRNE,GP1BAc.438C>A (p.Tyr146Ter)
c.-888+1300G>T (n.-888+1300G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933042C=CA2244625412CHRNE,GP1BAc.438C= (p.Tyr146=)
c.-888+1300G= (n.-888+1300G=)
17g.4933042C>GCA397316545CHRNE,GP1BAc.438C>G (p.Tyr146Ter)
c.-888+1300G>C (n.-888+1300G>C)
17g.4933042C>TCA287216132CHRNE,GP1BAc.438C>T (p.Tyr146=)
c.-888+1300G>A (n.-888+1300G>A)
 dbSNP
17g.4933043C>ACA397316549CHRNE,GP1BAc.439C>A (p.Leu147Met)
c.-888+1299G>T (n.-888+1299G>T)
17g.4933043C>GCA397316550CHRNE,GP1BAc.439C>G (p.Leu147Val)
c.-888+1299G>C (n.-888+1299G>C)
17g.4933043C>TCA497677374CHRNE,GP1BAc.439C>T (p.Leu147=)
c.-888+1299G>A (n.-888+1299G>A)
17g.4933044T>ACA397316552CHRNE,GP1BAc.440T>A (p.Leu147Gln)
c.-888+1298A>T (n.-888+1298A>T)
17g.4933044T>CCA397316554CHRNE,GP1BAc.440T>C (p.Leu147Pro)
c.-888+1298A>G (n.-888+1298A>G)
17g.4933044T>GCA397316557CHRNE,GP1BAc.440T>G (p.Leu147Arg)
c.-888+1298A>C (n.-888+1298A>C)
17g.4933045G>ACA8314776CHRNE,GP1BAc.441G>A (p.Leu147=)
c.-888+1297C>T (n.-888+1297C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933045G>CCA497677376CHRNE,GP1BAc.441G>C (p.Leu147=)
c.-888+1297C>G (n.-888+1297C>G)
17g.4933045G=CA2244625413CHRNE,GP1BAc.441G= (p.Leu147=)
c.-888+1297C= (n.-888+1297C=)
17g.4933045G>TCA497677377CHRNE,GP1BAc.441G>T (p.Leu147=)
c.-888+1297C>A (n.-888+1297C>A)
17g.4933046A>CCA397316558CHRNE,GP1BAc.442A>C (p.Lys148Gln)
c.-888+1296T>G (n.-888+1296T>G)
17g.4933046A>GCA397316560CHRNE,GP1BAc.442A>G (p.Lys148Glu)
c.-888+1296T>C (n.-888+1296T>C)
17g.4933046A>TCA397316559CHRNE,GP1BAc.442A>T (p.Lys148Ter)
c.-888+1296T>A (n.-888+1296T>A)
17g.4933047A>CCA397316561CHRNE,GP1BAc.443A>C (p.Lys148Thr)
c.-888+1295T>G (n.-888+1295T>G)
17g.4933047A>GCA397316562CHRNE,GP1BAc.443A>G (p.Lys148Arg)
c.-888+1295T>C (n.-888+1295T>C)
17g.4933047A>TCA397316563CHRNE,GP1BAc.443A>T (p.Lys148Ile)
c.-888+1295T>A (n.-888+1295T>A)
17g.4933048A>CCA397316565CHRNE,GP1BAc.444A>C (p.Lys148Asn)
c.-888+1294T>G (n.-888+1294T>G)
17g.4933048A>GCA497677380CHRNE,GP1BAc.444A>G (p.Lys148=)
c.-888+1294T>C (n.-888+1294T>C)
17g.4933048A>TCA397316567CHRNE,GP1BAc.444A>T (p.Lys148Asn)
c.-888+1294T>A (n.-888+1294T>A)
17g.4933049G>ACA397316570CHRNE,GP1BAc.445G>A (p.Gly149Ser)
c.-888+1293C>T (n.-888+1293C>T)
17g.4933049G>CCA397316572CHRNE,GP1BAc.445G>C (p.Gly149Arg)
c.-888+1293C>G (n.-888+1293C>G)
17g.4933049G>TCA397316568CHRNE,GP1BAc.445G>T (p.Gly149Cys)
c.-888+1293C>A (n.-888+1293C>A)
17g.4933050G>ACA397316574CHRNE,GP1BAc.446G>A (p.Gly149Asp)
c.-888+1292C>T (n.-888+1292C>T)
17g.4933050G>CCA397316579CHRNE,GP1BAc.446G>C (p.Gly149Ala)
c.-888+1292C>G (n.-888+1292C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4933050G=CA2244625414CHRNE,GP1BAc.446G= (p.Gly149=)
c.-888+1292C= (n.-888+1292C=)
17g.4933050G>TCA397316577CHRNE,GP1BAc.446G>T (p.Gly149Val)
c.-888+1292C>A (n.-888+1292C>A)
17g.4933051C>ACA497677384CHRNE,GP1BAc.447C>A (p.Gly149=)
c.-888+1291G>T (n.-888+1291G>T)
17g.4933051C>GCA497677385CHRNE,GP1BAc.447C>G (p.Gly149=)
c.-888+1291G>C (n.-888+1291G>C)
17g.4933051C>TCA497677386CHRNE,GP1BAc.447C>T (p.Gly149=)
c.-888+1291G>A (n.-888+1291G>A)
17g.4933052A>CCA397316581CHRNE,GP1BAc.448A>C (p.Asn150His)
c.-888+1290T>G (n.-888+1290T>G)
17g.4933052A>GCA397316583CHRNE,GP1BAc.448A>G (p.Asn150Asp)
c.-888+1290T>C (n.-888+1290T>C)
17g.4933052A>TCA397316585CHRNE,GP1BAc.448A>T (p.Asn150Tyr)
c.-888+1290T>A (n.-888+1290T>A)
17g.4933053A=CA2244625415CHRNE,GP1BAc.449A= (p.Asn150=)
c.-888+1289T= (n.-888+1289T=)
17g.4933053A>CCA397316589CHRNE,GP1BAc.449A>C (p.Asn150Thr)
c.-888+1289T>G (n.-888+1289T>G)
17g.4933053A>GCA397316592CHRNE,GP1BAc.449A>G (p.Asn150Ser)
c.-888+1289T>C (n.-888+1289T>C)
 ClinVar dbSNP gnomAD v4
17g.4933053A>TCA397316594CHRNE,GP1BAc.449A>T (p.Asn150Ile)
c.-888+1289T>A (n.-888+1289T>A)
17g.4933054T>ACA397316601CHRNE,GP1BAc.450T>A (p.Asn150Lys)
c.-888+1288A>T (n.-888+1288A>T)
17g.4933054T>CCA497677390CHRNE,GP1BAc.450T>C (p.Asn150=)
c.-888+1288A>G (n.-888+1288A>G)
17g.4933054T>GCA397316598CHRNE,GP1BAc.450T>G (p.Asn150Lys)
c.-888+1288A>C (n.-888+1288A>C)
17g.4933055G>ACA397316603CHRNE,GP1BAc.451G>A (p.Glu151Lys)
c.-888+1287C>T (n.-888+1287C>T)
17g.4933055G>CCA397316607CHRNE,GP1BAc.451G>C (p.Glu151Gln)
c.-888+1287C>G (n.-888+1287C>G)
17g.4933055G>TCA397316612CHRNE,GP1BAc.451G>T (p.Glu151Ter)
c.-888+1287C>A (n.-888+1287C>A)
17g.4933056A>CCA397316617CHRNE,GP1BAc.452A>C (p.Glu151Ala)
c.-888+1286T>G (n.-888+1286T>G)
17g.4933056A>GCA397316618CHRNE,GP1BAc.452A>G (p.Glu151Gly)
c.-888+1286T>C (n.-888+1286T>C)
17g.4933056A>TCA397316619CHRNE,GP1BAc.452A>T (p.Glu151Val)
c.-888+1286T>A (n.-888+1286T>A)
17g.4933057G>ACA8314777CHRNE,GP1BAc.453G>A (p.Glu151=)
c.-888+1285C>T (n.-888+1285C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933057G>CCA397316623CHRNE,GP1BAc.453G>C (p.Glu151Asp)
c.-888+1285C>G (n.-888+1285C>G)
17g.4933057G=CA2244625416CHRNE,GP1BAc.453G= (p.Glu151=)
c.-888+1285C= (n.-888+1285C=)
17g.4933057G>TCA397316625CHRNE,GP1BAc.453G>T (p.Glu151Asp)
c.-888+1285C>A (n.-888+1285C>A)
17g.4933058C>ACA397316632CHRNE,GP1BAc.454C>A (p.Leu152Met)
c.-888+1284G>T (n.-888+1284G>T)
17g.4933058C>GCA397316635CHRNE,GP1BAc.454C>G (p.Leu152Val)
c.-888+1284G>C (n.-888+1284G>C)
17g.4933058C>TCA497677393CHRNE,GP1BAc.454C>T (p.Leu152=)
c.-888+1284G>A (n.-888+1284G>A)
 gnomAD v4
17g.4933059T>ACA397316636CHRNE,GP1BAc.455T>A (p.Leu152Gln)
c.-888+1283A>T (n.-888+1283A>T)
17g.4933059T>CCA397316639CHRNE,GP1BAc.455T>C (p.Leu152Pro)
c.-888+1283A>G (n.-888+1283A>G)
17g.4933059T>GCA397316643CHRNE,GP1BAc.455T>G (p.Leu152Arg)
c.-888+1283A>C (n.-888+1283A>C)
17g.4933060G>ACA497677396CHRNE,GP1BAc.456G>A (p.Leu152=)
c.-888+1282C>T (n.-888+1282C>T)
 gnomAD v4
17g.4933060G>CCA497677398CHRNE,GP1BAc.456G>C (p.Leu152=)
c.-888+1282C>G (n.-888+1282C>G)
17g.4933060G>TCA497677399CHRNE,GP1BAc.456G>T (p.Leu152=)
c.-888+1282C>A (n.-888+1282C>A)
17g.4933061A>CCA397316645CHRNE,GP1BAc.457A>C (p.Lys153Gln)
c.-888+1281T>G (n.-888+1281T>G)
17g.4933061A>GCA397316654CHRNE,GP1BAc.457A>G (p.Lys153Glu)
c.-888+1281T>C (n.-888+1281T>C)
17g.4933061A>TCA397316657CHRNE,GP1BAc.457A>T (p.Lys153Ter)
c.-888+1281T>A (n.-888+1281T>A)
17g.4933062A>CCA397316662CHRNE,GP1BAc.458A>C (p.Lys153Thr)
c.-888+1280T>G (n.-888+1280T>G)
17g.4933062A>GCA397316664CHRNE,GP1BAc.458A>G (p.Lys153Arg)
c.-888+1280T>C (n.-888+1280T>C)
17g.4933062A>TCA397316677CHRNE,GP1BAc.458A>T (p.Lys153Met)
c.-888+1280T>A (n.-888+1280T>A)
17g.4933063G>ACA497677400CHRNE,GP1BAc.459G>A (p.Lys153=)
c.-888+1279C>T (n.-888+1279C>T)
17g.4933063G>CCA397316679CHRNE,GP1BAc.459G>C (p.Lys153Asn)
c.-888+1279C>G (n.-888+1279C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4933063G=CA2244625417CHRNE,GP1BAc.459G= (p.Lys153=)
c.-888+1279C= (n.-888+1279C=)
17g.4933063G>TCA397316681CHRNE,GP1BAc.459G>T (p.Lys153Asn)
c.-888+1279C>A (n.-888+1279C>A)
17g.4933064A>CCA397316690CHRNE,GP1BAc.460A>C (p.Thr154Pro)
c.-888+1278T>G (n.-888+1278T>G)
 dbSNP
17g.4933064A>GCA397316685CHRNE,GP1BAc.460A>G (p.Thr154Ala)
c.-888+1278T>C (n.-888+1278T>C)
17g.4933064A>TCA397316687CHRNE,GP1BAc.460A>T (p.Thr154Ser)
c.-888+1278T>A (n.-888+1278T>A)
17g.4933065C>ACA397316694CHRNE,GP1BAc.461C>A (p.Thr154Asn)
c.-888+1277G>T (n.-888+1277G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933065C=CA2244625418CHRNE,GP1BAc.461C= (p.Thr154=)
c.-888+1277G= (n.-888+1277G=)
17g.4933065C>GCA397316704CHRNE,GP1BAc.461C>G (p.Thr154Ser)
c.-888+1277G>C (n.-888+1277G>C)
17g.4933065C>TCA397316707CHRNE,GP1BAc.461C>T (p.Thr154Ile)
c.-888+1277G>A (n.-888+1277G>A)
17g.4933066C>ACA497677404CHRNE,GP1BAc.462C>A (p.Thr154=)
c.-888+1276G>T (n.-888+1276G>T)
17g.4933066C>GCA497677405CHRNE,GP1BAc.462C>G (p.Thr154=)
c.-888+1276G>C (n.-888+1276G>C)
17g.4933066C>TCA497677406CHRNE,GP1BAc.462C>T (p.Thr154=)
c.-888+1276G>A (n.-888+1276G>A)
 COSMIC
17g.4933067C>ACA397316710CHRNE,GP1BAc.463C>A (p.Leu155Met)
c.-888+1275G>T (n.-888+1275G>T)
 gnomAD v4 COSMIC
17g.4933067C>GCA397316714CHRNE,GP1BAc.463C>G (p.Leu155Val)
c.-888+1275G>C (n.-888+1275G>C)
 ClinVar dbSNP
17g.4933067C>TCA497677407CHRNE,GP1BAc.463C>T (p.Leu155=)
c.-888+1275G>A (n.-888+1275G>A)
17g.4933068T>ACA8314778CHRNE,GP1BAc.464T>A (p.Leu155Gln)
c.-888+1274A>T (n.-888+1274A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933068T>CCA397316720CHRNE,GP1BAc.464T>C (p.Leu155Pro)
c.-888+1274A>G (n.-888+1274A>G)
17g.4933068T>GCA397316724CHRNE,GP1BAc.464T>G (p.Leu155Arg)
c.-888+1274A>C (n.-888+1274A>C)
17g.4933068T=CA2244625419CHRNE,GP1BAc.464T= (p.Leu155=)
c.-888+1274A= (n.-888+1274A=)
17g.4933069G>ACA497677411CHRNE,GP1BAc.465G>A (p.Leu155=)
c.-888+1273C>T (n.-888+1273C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4933069G>CCA497677409CHRNE,GP1BAc.465G>C (p.Leu155=)
c.-888+1273C>G (n.-888+1273C>G)
17g.4933069G=CA2244625420CHRNE,GP1BAc.465G= (p.Leu155=)
c.-888+1273C= (n.-888+1273C=)
17g.4933069G>TCA497677408CHRNE,GP1BAc.465G>T (p.Leu155=)
c.-888+1273C>A (n.-888+1273C>A)
17g.4933070C>ACA397316728CHRNE,GP1BAc.466C>A (p.Pro156Thr)
c.-888+1272G>T (n.-888+1272G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933070C=CA2244625421CHRNE,GP1BAc.466C= (p.Pro156=)
c.-888+1272G= (n.-888+1272G=)
17g.4933070C>GCA397316731CHRNE,GP1BAc.466C>G (p.Pro156Ala)
c.-888+1272G>C (n.-888+1272G>C)
17g.4933070C>TCA397316735CHRNE,GP1BAc.466C>T (p.Pro156Ser)
c.-888+1272G>A (n.-888+1272G>A)
17g.4933074dupCA915949478CHRNE,GP1BAc.470dup (p.Gly158ArgfsTer16)
c.-888+1272dup (n.-888+1272dup)
 ClinVar dbSNP gnomAD v4
17g.4933074delCA2635578734CHRNE,GP1BAc.470del (p.Pro157GlnfsTer4)
c.-888+1272del (n.-888+1272del)
 gnomAD v4
17g.4933071C>ACA397316739CHRNE,GP1BAc.467C>A (p.Pro156His)
c.-888+1271G>T (n.-888+1271G>T)
17g.4933071C>GCA397316743CHRNE,GP1BAc.467C>G (p.Pro156Arg)
c.-888+1271G>C (n.-888+1271G>C)
17g.4933071C>TCA397316752CHRNE,GP1BAc.467C>T (p.Pro156Leu)
c.-888+1271G>A (n.-888+1271G>A)
17g.4933072C>ACA497677413CHRNE,GP1BAc.468C>A (p.Pro156=)
c.-888+1270G>T (n.-888+1270G>T)
17g.4933072C=CA2244625422CHRNE,GP1BAc.468C= (p.Pro156=)
c.-888+1270G= (n.-888+1270G=)
17g.4933072C>GCA8314779CHRNE,GP1BAc.468C>G (p.Pro156=)
c.-888+1270G>C (n.-888+1270G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933072C>TCA497677416CHRNE,GP1BAc.468C>T (p.Pro156=)
c.-888+1270G>A (n.-888+1270G>A)
17g.4933073C>ACA397316760CHRNE,GP1BAc.469C>A (p.Pro157Thr)
c.-888+1269G>T (n.-888+1269G>T)
17g.4933073C=CA2244625423CHRNE,GP1BAc.469C= (p.Pro157=)
c.-888+1269G= (n.-888+1269G=)
17g.4933073C>GCA397316763CHRNE,GP1BAc.469C>G (p.Pro157Ala)
c.-888+1269G>C (n.-888+1269G>C)
17g.4933073C>TCA8314780CHRNE,GP1BAc.469C>T (p.Pro157Ser)
c.-888+1269G>A (n.-888+1269G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933074C>ACA397316765CHRNE,GP1BAc.470C>A (p.Pro157Gln)
c.-888+1268G>T (n.-888+1268G>T)
17g.4933074C>GCA397316767CHRNE,GP1BAc.470C>G (p.Pro157Arg)
c.-888+1268G>C (n.-888+1268G>C)
17g.4933074C>TCA397316770CHRNE,GP1BAc.470C>T (p.Pro157Leu)
c.-888+1268G>A (n.-888+1268G>A)
 gnomAD v4
17g.4933075A=CA2244625424CHRNE,GP1BAc.471A= (p.Pro157=)
c.-888+1267T= (n.-888+1267T=)
17g.4933075A>CCA497677418CHRNE,GP1BAc.471A>C (p.Pro157=)
c.-888+1267T>G (n.-888+1267T>G)
17g.4933075A>GCA497677420CHRNE,GP1BAc.471A>G (p.Pro157=)
c.-888+1267T>C (n.-888+1267T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933075A>TCA497677422CHRNE,GP1BAc.471A>T (p.Pro157=)
c.-888+1267T>A (n.-888+1267T>A)
17g.4933076G>ACA397316774CHRNE,GP1BAc.472G>A (p.Gly158Arg)
c.-888+1266C>T (n.-888+1266C>T)
17g.4933076G>CCA397316780CHRNE,GP1BAc.472G>C (p.Gly158Arg)
c.-888+1266C>G (n.-888+1266C>G)
 gnomAD v4
17g.4933076G>TCA397316781CHRNE,GP1BAc.472G>T (p.Gly158Trp)
c.-888+1266C>A (n.-888+1266C>A)
17g.4933077G>ACA397316784CHRNE,GP1BAc.473G>A (p.Gly158Glu)
c.-888+1265C>T (n.-888+1265C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4933077G>CCA397316788CHRNE,GP1BAc.473G>C (p.Gly158Ala)
c.-888+1265C>G (n.-888+1265C>G)
17g.4933077G=CA2244625425CHRNE,GP1BAc.473G= (p.Gly158=)
c.-888+1265C= (n.-888+1265C=)
17g.4933077G>TCA397316791CHRNE,GP1BAc.473G>T (p.Gly158Val)
c.-888+1265C>A (n.-888+1265C>A)
17g.4933078G>ACA497677423CHRNE,GP1BAc.474G>A (p.Gly158=)
c.-888+1264C>T (n.-888+1264C>T)
17g.4933078G>CCA497677426CHRNE,GP1BAc.474G>C (p.Gly158=)
c.-888+1264C>G (n.-888+1264C>G)
17g.4933078G=CA2244625426CHRNE,GP1BAc.474G= (p.Gly158=)
c.-888+1264C= (n.-888+1264C=)
17g.4933078G>TCA8314781CHRNE,GP1BAc.474G>T (p.Gly158=)
c.-888+1264C>A (n.-888+1264C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933079C>ACA397316797CHRNE,GP1BAc.475C>A (p.Leu159Ile)
c.-888+1263G>T (n.-888+1263G>T)
17g.4933079C>GCA397316804CHRNE,GP1BAc.475C>G (p.Leu159Val)
c.-888+1263G>C (n.-888+1263G>C)
17g.4933079C>TCA397316800CHRNE,GP1BAc.475C>T (p.Leu159Phe)
c.-888+1263G>A (n.-888+1263G>A)
17g.4933080T>ACA397316806CHRNE,GP1BAc.476T>A (p.Leu159His)
c.-888+1262A>T (n.-888+1262A>T)
17g.4933080T>CCA397316812CHRNE,GP1BAc.476T>C (p.Leu159Pro)
c.-888+1262A>G (n.-888+1262A>G)
17g.4933080T>GCA397316809CHRNE,GP1BAc.476T>G (p.Leu159Arg)
c.-888+1262A>C (n.-888+1262A>C)
17g.4933081C>ACA497677428CHRNE,GP1BAc.477C>A (p.Leu159=)
c.-888+1261G>T (n.-888+1261G>T)
17g.4933081C=CA2244625427CHRNE,GP1BAc.477C= (p.Leu159=)
c.-888+1261G= (n.-888+1261G=)
17g.4933081C>GCA497677430CHRNE,GP1BAc.477C>G (p.Leu159=)
c.-888+1261G>C (n.-888+1261G>C)
17g.4933081C>TCA497677432CHRNE,GP1BAc.477C>T (p.Leu159=)
c.-888+1261G>A (n.-888+1261G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.4933082C>ACA397316814CHRNE,GP1BAc.478C>A (p.Leu160Met)
c.-888+1260G>T (n.-888+1260G>T)
17g.4933082C>GCA397316815CHRNE,GP1BAc.478C>G (p.Leu160Val)
c.-888+1260G>C (n.-888+1260G>C)
17g.4933082C>TCA497677435CHRNE,GP1BAc.478C>T (p.Leu160=)
c.-888+1260G>A (n.-888+1260G>A)
17g.4933083T>ACA397316818CHRNE,GP1BAc.479T>A (p.Leu160Gln)
c.-888+1259A>T (n.-888+1259A>T)
17g.4933083T>CCA397316819CHRNE,GP1BAc.479T>C (p.Leu160Pro)
c.-888+1259A>G (n.-888+1259A>G)
17g.4933083T>GCA397316820CHRNE,GP1BAc.479T>G (p.Leu160Arg)
c.-888+1259A>C (n.-888+1259A>C)
17g.4933084G>ACA497677439CHRNE,GP1BAc.480G>A (p.Leu160=)
c.-888+1258C>T (n.-888+1258C>T)
17g.4933084G>CCA497677437CHRNE,GP1BAc.480G>C (p.Leu160=)
c.-888+1258C>G (n.-888+1258C>G)
17g.4933084G>TCA497677436CHRNE,GP1BAc.480G>T (p.Leu160=)
c.-888+1258C>A (n.-888+1258C>A)
17g.4933085A>CCA397316821CHRNE,GP1BAc.481A>C (p.Thr161Pro)
c.-888+1257T>G (n.-888+1257T>G)
17g.4933085A>GCA397316823CHRNE,GP1BAc.481A>G (p.Thr161Ala)
c.-888+1257T>C (n.-888+1257T>C)
17g.4933085A>TCA397316825CHRNE,GP1BAc.481A>T (p.Thr161Ser)
c.-888+1257T>A (n.-888+1257T>A)
17g.4933086C>ACA397316828CHRNE,GP1BAc.482C>A (p.Thr161Lys)
c.-888+1256G>T (n.-888+1256G>T)
17g.4933086C=CA2244625428CHRNE,GP1BAc.482C= (p.Thr161=)
c.-888+1256G= (n.-888+1256G=)
17g.4933086C>GCA397316831CHRNE,GP1BAc.482C>G (p.Thr161Arg)
c.-888+1256G>C (n.-888+1256G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4933086C>TCA8314782CHRNE,GP1BAc.482C>T (p.Thr161Met)
c.-888+1256G>A (n.-888+1256G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933087G>ACA8314783CHRNE,GP1BAc.483G>A (p.Thr161=)
c.-888+1255C>T (n.-888+1255C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933087G>CCA497677445CHRNE,GP1BAc.483G>C (p.Thr161=)
c.-888+1255C>G (n.-888+1255C>G)
17g.4933087G=CA2244625429CHRNE,GP1BAc.483G= (p.Thr161=)
c.-888+1255C= (n.-888+1255C=)
17g.4933087G>TCA497677444CHRNE,GP1BAc.483G>T (p.Thr161=)
c.-888+1255C>A (n.-888+1255C>A)
17g.4933088C>ACA397316841CHRNE,GP1BAc.484C>A (p.Pro162Thr)
c.-888+1254G>T (n.-888+1254G>T)
17g.4933088C>GCA397316847CHRNE,GP1BAc.484C>G (p.Pro162Ala)
c.-888+1254G>C (n.-888+1254G>C)
17g.4933088C>TCA397316844CHRNE,GP1BAc.484C>T (p.Pro162Ser)
c.-888+1254G>A (n.-888+1254G>A)
17g.4933089C>ACA397316851CHRNE,GP1BAc.485C>A (p.Pro162His)
c.-888+1253G>T (n.-888+1253G>T)
17g.4933089C>GCA397316854CHRNE,GP1BAc.485C>G (p.Pro162Arg)
c.-888+1253G>C (n.-888+1253G>C)
17g.4933089C>TCA397316858CHRNE,GP1BAc.485C>T (p.Pro162Leu)
c.-888+1253G>A (n.-888+1253G>A)
 gnomAD v4
17g.4933090C>ACA497677452CHRNE,GP1BAc.486C>A (p.Pro162=)
c.-888+1252G>T (n.-888+1252G>T)
17g.4933090C=CA2244625430CHRNE,GP1BAc.486C= (p.Pro162=)
c.-888+1252G= (n.-888+1252G=)
17g.4933090C>GCA497677455CHRNE,GP1BAc.486C>G (p.Pro162=)
c.-888+1252G>C (n.-888+1252G>C)
17g.4933090C>TCA497677453CHRNE,GP1BAc.486C>T (p.Pro162=)
c.-888+1252G>A (n.-888+1252G>A)
 dbSNP
17g.4933091A=CA2244625431CHRNE,GP1BAc.487A= (p.Thr163=)
c.-888+1251T= (n.-888+1251T=)
17g.4933091A>CCA397316862CHRNE,GP1BAc.487A>C (p.Thr163Pro)
c.-888+1251T>G (n.-888+1251T>G)
17g.4933091A>GCA8314784CHRNE,GP1BAc.487A>G (p.Thr163Ala)
c.-888+1251T>C (n.-888+1251T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933091A>TCA397316864CHRNE,GP1BAc.487A>T (p.Thr163Ser)
c.-888+1251T>A (n.-888+1251T>A)
17g.4933092C>ACA397316868CHRNE,GP1BAc.488C>A (p.Thr163Lys)
c.-888+1250G>T (n.-888+1250G>T)
17g.4933092C>GCA397316870CHRNE,GP1BAc.488C>G (p.Thr163Arg)
c.-888+1250G>C (n.-888+1250G>C)
17g.4933092C>TCA397316872CHRNE,GP1BAc.488C>T (p.Thr163Ile)
c.-888+1250G>A (n.-888+1250G>A)
17g.4933093A>CCA497677462CHRNE,GP1BAc.489A>C (p.Thr163=)
c.-888+1249T>G (n.-888+1249T>G)
17g.4933093A>GCA497677463CHRNE,GP1BAc.489A>G (p.Thr163=)
c.-888+1249T>C (n.-888+1249T>C)
17g.4933093A>TCA497677464CHRNE,GP1BAc.489A>T (p.Thr163=)
c.-888+1249T>A (n.-888+1249T>A)
17g.4933094C>ACA397316877CHRNE,GP1BAc.490C>A (p.Pro164Thr)
c.-888+1248G>T (n.-888+1248G>T)
17g.4933094C=CA2244625432CHRNE,GP1BAc.490C= (p.Pro164=)
c.-888+1248G= (n.-888+1248G=)
17g.4933094C>GCA8314785CHRNE,GP1BAc.490C>G (p.Pro164Ala)
c.-888+1248G>C (n.-888+1248G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933094C>TCA8314786CHRNE,GP1BAc.490C>T (p.Pro164Ser)
c.-888+1248G>A (n.-888+1248G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933095C>ACA397316882CHRNE,GP1BAc.491C>A (p.Pro164His)
c.-888+1247G>T (n.-888+1247G>T)
17g.4933095C>GCA397316883CHRNE,GP1BAc.491C>G (p.Pro164Arg)
c.-888+1247G>C (n.-888+1247G>C)
17g.4933095C>TCA397316887CHRNE,GP1BAc.491C>T (p.Pro164Leu)
c.-888+1247G>A (n.-888+1247G>A)
17g.4933096C>ACA497677468CHRNE,GP1BAc.492C>A (p.Pro164=)
c.-888+1246G>T (n.-888+1246G>T)
17g.4933096C>GCA497677470CHRNE,GP1BAc.492C>G (p.Pro164=)
c.-888+1246G>C (n.-888+1246G>C)
17g.4933096C>TCA497677471CHRNE,GP1BAc.492C>T (p.Pro164=)
c.-888+1246G>A (n.-888+1246G>A)
 gnomAD v4
17g.4933097A>CCA397316893CHRNE,GP1BAc.493A>C (p.Lys165Gln)
c.-888+1245T>G (n.-888+1245T>G)
17g.4933097A>GCA397316895CHRNE,GP1BAc.493A>G (p.Lys165Glu)
c.-888+1245T>C (n.-888+1245T>C)
17g.4933097A>TCA397316898CHRNE,GP1BAc.493A>T (p.Lys165Ter)
c.-888+1245T>A (n.-888+1245T>A)
17g.4933098A>CCA397316899CHRNE,GP1BAc.494A>C (p.Lys165Thr)
c.-888+1244T>G (n.-888+1244T>G)
17g.4933098A>GCA397316901CHRNE,GP1BAc.494A>G (p.Lys165Arg)
c.-888+1244T>C (n.-888+1244T>C)
17g.4933098A>TCA397316900CHRNE,GP1BAc.494A>T (p.Lys165Met)
c.-888+1244T>A (n.-888+1244T>A)
17g.4933099G>ACA497677472CHRNE,GP1BAc.495G>A (p.Lys165=)
c.-888+1243C>T (n.-888+1243C>T)
17g.4933099G>CCA397316902CHRNE,GP1BAc.495G>C (p.Lys165Asn)
c.-888+1243C>G (n.-888+1243C>G)
 dbSNP
17g.4933099G=CA2244625433CHRNE,GP1BAc.495G= (p.Lys165=)
c.-888+1243C= (n.-888+1243C=)
17g.4933099G>TCA397316903CHRNE,GP1BAc.495G>T (p.Lys165Asn)
c.-888+1243C>A (n.-888+1243C>A)
17g.4933100C>ACA397316904CHRNE,GP1BAc.496C>A (p.Leu166Met)
c.-888+1242G>T (n.-888+1242G>T)
 gnomAD v4
17g.4933100C>GCA397316905CHRNE,GP1BAc.496C>G (p.Leu166Val)
c.-888+1242G>C (n.-888+1242G>C)
17g.4933100C>TCA497677476CHRNE,GP1BAc.496C>T (p.Leu166=)
c.-888+1242G>A (n.-888+1242G>A)
17g.4933101T>ACA397316906CHRNE,GP1BAc.497T>A (p.Leu166Gln)
c.-888+1241A>T (n.-888+1241A>T)
17g.4933101T>CCA397316910CHRNE,GP1BAc.497T>C (p.Leu166Pro)
c.-888+1241A>G (n.-888+1241A>G)
17g.4933101T>GCA397316909CHRNE,GP1BAc.497T>G (p.Leu166Arg)
c.-888+1241A>C (n.-888+1241A>C)
17g.4933102G>ACA497677480CHRNE,GP1BAc.498G>A (p.Leu166=)
c.-888+1240C>T (n.-888+1240C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4933102G>CCA497677481CHRNE,GP1BAc.498G>C (p.Leu166=)
c.-888+1240C>G (n.-888+1240C>G)
17g.4933102G=CA2244625434CHRNE,GP1BAc.498G= (p.Leu166=)
c.-888+1240C= (n.-888+1240C=)
17g.4933102G>TCA497677482CHRNE,GP1BAc.498G>T (p.Leu166=)
c.-888+1240C>A (n.-888+1240C>A)
17g.4933103G>ACA397316912CHRNE,GP1BAc.499G>A (p.Glu167Lys)
c.-888+1239C>T (n.-888+1239C>T)
 dbSNP gnomAD v4
17g.4933103G>CCA8314787CHRNE,GP1BAc.499G>C (p.Glu167Gln)
c.-888+1239C>G (n.-888+1239C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933103G=CA2244625435CHRNE,GP1BAc.499G= (p.Glu167=)
c.-888+1239C= (n.-888+1239C=)
17g.4933103G>TCA397316915CHRNE,GP1BAc.499G>T (p.Glu167Ter)
c.-888+1239C>A (n.-888+1239C>A)
 ClinVar dbSNP
17g.4933104A=CA2244625436CHRNE,GP1BAc.500A= (p.Glu167=)
c.-888+1238T= (n.-888+1238T=)
17g.4933104A>CCA397316921CHRNE,GP1BAc.500A>C (p.Glu167Ala)
c.-888+1238T>G (n.-888+1238T>G)
17g.4933104A>GCA397316933CHRNE,GP1BAc.500A>G (p.Glu167Gly)
c.-888+1238T>C (n.-888+1238T>C)
 gnomAD v4
17g.4933104A>TCA8314788CHRNE,GP1BAc.500A>T (p.Glu167Val)
c.-888+1238T>A (n.-888+1238T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933105G>ACA497677491CHRNE,GP1BAc.501G>A (p.Glu167=)
c.-888+1237C>T (n.-888+1237C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933105G>CCA397316938CHRNE,GP1BAc.501G>C (p.Glu167Asp)
c.-888+1237C>G (n.-888+1237C>G)
17g.4933105G=CA2244625437CHRNE,GP1BAc.501G= (p.Glu167=)
c.-888+1237C= (n.-888+1237C=)
17g.4933105G>TCA397316941CHRNE,GP1BAc.501G>T (p.Glu167Asp)
c.-888+1237C>A (n.-888+1237C>A)
17g.4933106A=CA2244625438CHRNE,GP1BAc.502A= (p.Lys168=)
c.-888+1236T= (n.-888+1236T=)
17g.4933106A>CCA397316944CHRNE,GP1BAc.502A>C (p.Lys168Gln)
c.-888+1236T>G (n.-888+1236T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.4933106A>GCA397316945CHRNE,GP1BAc.502A>G (p.Lys168Glu)
c.-888+1236T>C (n.-888+1236T>C)
17g.4933106A>TCA397316948CHRNE,GP1BAc.502A>T (p.Lys168Ter)
c.-888+1236T>A (n.-888+1236T>A)
17g.4933107A>CCA397316957CHRNE,GP1BAc.503A>C (p.Lys168Thr)
c.-888+1235T>G (n.-888+1235T>G)
17g.4933107A>GCA397316954CHRNE,GP1BAc.503A>G (p.Lys168Arg)
c.-888+1235T>C (n.-888+1235T>C)
17g.4933107A>TCA397316951CHRNE,GP1BAc.503A>T (p.Lys168Met)
c.-888+1235T>A (n.-888+1235T>A)
17g.4933108G>ACA497677496CHRNE,GP1BAc.504G>A (p.Lys168=)
c.-888+1234C>T (n.-888+1234C>T)
 dbSNP gnomAD v4
17g.4933108G>CCA397316959CHRNE,GP1BAc.504G>C (p.Lys168Asn)
c.-888+1234C>G (n.-888+1234C>G)
17g.4933108G=CA2244625439CHRNE,GP1BAc.504G= (p.Lys168=)
c.-888+1234C= (n.-888+1234C=)
17g.4933108G>TCA397316961CHRNE,GP1BAc.504G>T (p.Lys168Asn)
c.-888+1234C>A (n.-888+1234C>A)
17g.4933109C>ACA397316964CHRNE,GP1BAc.505C>A (p.Leu169Ile)
c.-888+1233G>T (n.-888+1233G>T)
17g.4933109C>GCA397316966CHRNE,GP1BAc.505C>G (p.Leu169Val)
c.-888+1233G>C (n.-888+1233G>C)
17g.4933109C>TCA397316968CHRNE,GP1BAc.505C>T (p.Leu169Phe)
c.-888+1233G>A (n.-888+1233G>A)
17g.4933110T>ACA397316973CHRNE,GP1BAc.506T>A (p.Leu169His)
c.-888+1232A>T (n.-888+1232A>T)
17g.4933110T>CCA397316975CHRNE,GP1BAc.506T>C (p.Leu169Pro)
c.-888+1232A>G (n.-888+1232A>G)
17g.4933110T>GCA397316976CHRNE,GP1BAc.506T>G (p.Leu169Arg)
c.-888+1232A>C (n.-888+1232A>C)
17g.4933111C>ACA497677507CHRNE,GP1BAc.507C>A (p.Leu169=)
c.-888+1231G>T (n.-888+1231G>T)
17g.4933111C>GCA497677503CHRNE,GP1BAc.507C>G (p.Leu169=)
c.-888+1231G>C (n.-888+1231G>C)
 gnomAD v4
17g.4933111C>TCA497677506CHRNE,GP1BAc.507C>T (p.Leu169=)
c.-888+1231G>A (n.-888+1231G>A)
17g.4933112A=CA2244625441CHRNE,GP1BAc.508A= (p.Ser170=)
c.-888+1230T= (n.-888+1230T=)
17g.4933112A>CCA397316980CHRNE,GP1BAc.508A>C (p.Ser170Arg)
c.-888+1230T>G (n.-888+1230T>G)
17g.4933112A>GCA397316992CHRNE,GP1BAc.508A>G (p.Ser170Gly)
c.-888+1230T>C (n.-888+1230T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4933112A>TCA397316999CHRNE,GP1BAc.508A>T (p.Ser170Cys)
c.-888+1230T>A (n.-888+1230T>A)
17g.4933112_4933116delinsAGTCTCA2244625440CHRNE,GP1BAc.508_512delinsAGTCT (p.Ser170=)
c.-888+1226_-888+1230delinsAGACT (n.-888+1226_-888+1230delinsAGACT)
17g.4933113G>ACA397317002CHRNE,GP1BAc.509G>A (p.Ser170Asn)
c.-888+1229C>T (n.-888+1229C>T)
17g.4933113G>CCA397317005CHRNE,GP1BAc.509G>C (p.Ser170Thr)
c.-888+1229C>G (n.-888+1229C>G)
17g.4933113G>TCA397317008CHRNE,GP1BAc.509G>T (p.Ser170Ile)
c.-888+1229C>A (n.-888+1229C>A)
17g.4933114_4933117delCA624856164CHRNE,GP1BAc.510_513del (p.Ser170ArgfsTer6)
c.-888+1226_-888+1229del (n.-888+1226_-888+1229del)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched