Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933836_4933997delCA2808297150CHRNE,GP1BAc.1232_1393del (p.Pro411_Ile464del)
c.-888+347_-888+508del (n.-888+347_-888+508del)
c.1232_1315del
17g.4933979_4933996dupCA624856162CHRNE,GP1BAc.1375_1392dup (p.Ile464_Leu465insAlaThrSerProThrIle)
c.-888+356_-888+373dup (n.-888+356_-888+373dup)
c.1297_1314dup (p.Ile438_Leu439insAlaThrSerProThrIle)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933978_4934005delinsCGCCACAAGCCCGACCATCCTGGTGTCTCA2244625907CHRNE,GP1BAc.1374_1401delinsCGCCACAAGCCCGACCATCCTGGTGTCT (p.Ile458=)
c.-888+337_-888+364delinsAGACACCAGGATGGTCGGGCTTGTGGCG (n.-888+337_-888+364delinsAGACACCAGGATGGTCGGGCTTGTGGCG)
c.1296_1323delinsCGCCACAAGCCCGACCATCCTGGTGTCT (p.Ile432=)
17g.4933989_4934015delCA624856163CHRNE,GP1BAc.1385_1411del (p.Pro462_Ser470del)
c.-888+337_-888+363del (n.-888+337_-888+363del)
c.1307_1333del (p.Pro436_Ser444del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933984A>CCA497677999CHRNE,GP1BAc.1380A>C (p.Thr460=)
c.-888+358T>G (n.-888+358T>G)
c.1302A>C (p.Thr434=)
17g.4933984A>GCA497678002CHRNE,GP1BAc.1380A>G (p.Thr460=)
c.-888+358T>C (n.-888+358T>C)
c.1302A>G (p.Thr434=)
 gnomAD v4
17g.4933984A>TCA497678000CHRNE,GP1BAc.1380A>T (p.Thr460=)
c.-888+358T>A (n.-888+358T>A)
c.1302A>T (p.Thr434=)
17g.4933985A=CA2244625910CHRNE,GP1BAc.1381A= (p.Ser461=)
c.-888+357T= (n.-888+357T=)
c.1303A= (p.Ser435=)
17g.4933985A>CCA397321708CHRNE,GP1BAc.1381A>C (p.Ser461Arg)
c.-888+357T>G (n.-888+357T>G)
c.1303A>C (p.Ser435Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.4933985A>GCA397321710CHRNE,GP1BAc.1381A>G (p.Ser461Gly)
c.-888+357T>C (n.-888+357T>C)
c.1303A>G (p.Ser435Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.4933985A>TCA397321711CHRNE,GP1BAc.1381A>T (p.Ser461Cys)
c.-888+357T>A (n.-888+357T>A)
c.1303A>T (p.Ser435Cys)
17g.4933986G>ACA397321713CHRNE,GP1BAc.1382G>A (p.Ser461Asn)
c.-888+356C>T (n.-888+356C>T)
c.1304G>A (p.Ser435Asn)
 gnomAD v4
17g.4933986G>CCA397321715CHRNE,GP1BAc.1382G>C (p.Ser461Thr)
c.-888+356C>G (n.-888+356C>G)
c.1304G>C (p.Ser435Thr)
17g.4933986G=CA2244625911CHRNE,GP1BAc.1382G= (p.Ser461=)
c.-888+356C= (n.-888+356C=)
c.1304G= (p.Ser435=)
17g.4933986G>TCA397321717CHRNE,GP1BAc.1382G>T (p.Ser461Ile)
c.-888+356C>A (n.-888+356C>A)
c.1304G>T (p.Ser435Ile)
 dbSNP COSMIC
17g.4933987C>ACA397321718CHRNE,GP1BAc.1383C>A (p.Ser461Arg)
c.-888+355G>T (n.-888+355G>T)
c.1305C>A (p.Ser435Arg)
17g.4933987C>GCA397321720CHRNE,GP1BAc.1383C>G (p.Ser461Arg)
c.-888+355G>C (n.-888+355G>C)
c.1305C>G (p.Ser435Arg)
17g.4933987C>TCA497678010CHRNE,GP1BAc.1383C>T (p.Ser461=)
c.-888+355G>A (n.-888+355G>A)
c.1305C>T (p.Ser435=)
 gnomAD v4
17g.4933988C>ACA397321722CHRNE,GP1BAc.1384C>A (p.Pro462Thr)
c.-888+354G>T (n.-888+354G>T)
c.1306C>A (p.Pro436Thr)
17g.4933988C=CA2244625912CHRNE,GP1BAc.1384C= (p.Pro462=)
c.-888+354G= (n.-888+354G=)
c.1306C= (p.Pro436=)
17g.4933988C>GCA397321723CHRNE,GP1BAc.1384C>G (p.Pro462Ala)
c.-888+354G>C (n.-888+354G>C)
c.1306C>G (p.Pro436Ala)
17g.4933988C>TCA287217545CHRNE,GP1BAc.1384C>T (p.Pro462Ser)
c.-888+354G>A (n.-888+354G>A)
c.1306C>T (p.Pro436Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.4933989C>ACA397321725CHRNE,GP1BAc.1385C>A (p.Pro462Gln)
c.-888+353G>T (n.-888+353G>T)
c.1307C>A (p.Pro436Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.4933989C=CA2244625913CHRNE,GP1BAc.1385C= (p.Pro462=)
c.-888+353G= (n.-888+353G=)
c.1307C= (p.Pro436=)
17g.4933989C>GCA8314988CHRNE,GP1BAc.1385C>G (p.Pro462Arg)
c.-888+353G>C (n.-888+353G>C)
c.1307C>G (p.Pro436Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933989C>TCA397321727CHRNE,GP1BAc.1385C>T (p.Pro462Leu)
c.-888+353G>A (n.-888+353G>A)
c.1307C>T (p.Pro436Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.4933990G>ACA8314989CHRNE,GP1BAc.1386G>A (p.Pro462=)
c.-888+352C>T (n.-888+352C>T)
c.1308G>A (p.Pro436=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933990G>CCA497678019CHRNE,GP1BAc.1386G>C (p.Pro462=)
c.-888+352C>G (n.-888+352C>G)
c.1308G>C (p.Pro436=)
 dbSNP gnomAD v2 gnomAD v4
17g.4933990G=CA2244625914CHRNE,GP1BAc.1386G= (p.Pro462=)
c.-888+352C= (n.-888+352C=)
c.1308G= (p.Pro436=)
17g.4933990G>TCA497678018CHRNE,GP1BAc.1386G>T (p.Pro462=)
c.-888+352C>A (n.-888+352C>A)
c.1308G>T (p.Pro436=)
17g.4933991A>CCA397321733CHRNE,GP1BAc.1387A>C (p.Thr463Pro)
c.-888+351T>G (n.-888+351T>G)
c.1309A>C (p.Thr437Pro)
17g.4933991A>GCA397321730CHRNE,GP1BAc.1387A>G (p.Thr463Ala)
c.-888+351T>C (n.-888+351T>C)
c.1309A>G (p.Thr437Ala)
17g.4933991A>TCA397321731CHRNE,GP1BAc.1387A>T (p.Thr463Ser)
c.-888+351T>A (n.-888+351T>A)
c.1309A>T (p.Thr437Ser)
17g.4933992C>ACA397321734CHRNE,GP1BAc.1388C>A (p.Thr463Asn)
c.-888+350G>T (n.-888+350G>T)
c.1310C>A (p.Thr437Asn)
17g.4933992C>GCA397321736CHRNE,GP1BAc.1388C>G (p.Thr463Ser)
c.-888+350G>C (n.-888+350G>C)
c.1310C>G (p.Thr437Ser)
17g.4933992C>TCA397321737CHRNE,GP1BAc.1388C>T (p.Thr463Ile)
c.-888+350G>A (n.-888+350G>A)
c.1310C>T (p.Thr437Ile)
17g.4933993C>ACA497678029CHRNE,GP1BAc.1389C>A (p.Thr463=)
c.-888+349G>T (n.-888+349G>T)
c.1311C>A (p.Thr437=)
 dbSNP gnomAD v2 gnomAD v4
17g.4933993C=CA2244625915CHRNE,GP1BAc.1389C= (p.Thr463=)
c.-888+349G= (n.-888+349G=)
c.1311C= (p.Thr437=)
17g.4933993C>GCA497678032CHRNE,GP1BAc.1389C>G (p.Thr463=)
c.-888+349G>C (n.-888+349G>C)
c.1311C>G (p.Thr437=)
17g.4933993C>TCA287217570CHRNE,GP1BAc.1389C>T (p.Thr463=)
c.-888+349G>A (n.-888+349G>A)
c.1311C>T (p.Thr437=)
 dbSNP gnomAD v4
17g.4933994A>CCA397321739CHRNE,GP1BAc.1390A>C (p.Ile464Leu)
c.-888+348T>G (n.-888+348T>G)
c.1312A>C (p.Ile438Leu)
17g.4933994A>GCA397321741CHRNE,GP1BAc.1390A>G (p.Ile464Val)
c.-888+348T>C (n.-888+348T>C)
c.1312A>G (p.Ile438Val)
17g.4933994A>TCA397321742CHRNE,GP1BAc.1390A>T (p.Ile464Phe)
c.-888+348T>A (n.-888+348T>A)
c.1312A>T (p.Ile438Phe)
17g.4933995T>ACA397321743CHRNE,GP1BAc.1391T>A (p.Ile464Asn)
c.-888+347A>T (n.-888+347A>T)
c.1313T>A (p.Ile438Asn)
17g.4933995T>CCA397321745CHRNE,GP1BAc.1391T>C (p.Ile464Thr)
c.-888+347A>G (n.-888+347A>G)
c.1313T>C (p.Ile438Thr)
 dbSNP
17g.4933995T>GCA397321747CHRNE,GP1BAc.1391T>G (p.Ile464Ser)
c.-888+347A>C (n.-888+347A>C)
c.1313T>G (p.Ile438Ser)
17g.4933995T=CA2244625916CHRNE,GP1BAc.1391T= (p.Ile464=)
c.-888+347A= (n.-888+347A=)
c.1313T= (p.Ile438=)
17g.4933996C>ACA497678040CHRNE,GP1BAc.1392C>A (p.Ile464=)
c.-888+346G>T (n.-888+346G>T)
c.1314C>A (p.Ile438=)
17g.4933996C=CA2244625917CHRNE,GP1BAc.1392C= (p.Ile464=)
c.-888+346G= (n.-888+346G=)
c.1314C= (p.Ile438=)
17g.4933996C>GCA397321748CHRNE,GP1BAc.1392C>G (p.Ile464Met)
c.-888+346G>C (n.-888+346G>C)
c.1314C>G (p.Ile438Met)
17g.4933996C>TCA497678043CHRNE,GP1BAc.1392C>T (p.Ile464=)
c.-888+346G>A (n.-888+346G>A)
c.1314C>T (p.Ile438=)
 dbSNP gnomAD v2 gnomAD v4
17g.4933997C>ACA397321751CHRNE,GP1BAc.1393C>A (p.Leu465Met)
c.-888+345G>T (n.-888+345G>T)
c.1315C>A (p.Leu439Met)
17g.4933997C>GCA397321749CHRNE,GP1BAc.1393C>G (p.Leu465Val)
c.-888+345G>C (n.-888+345G>C)
c.1315C>G (p.Leu439Val)
17g.4933997C>TCA497678046CHRNE,GP1BAc.1393C>T (p.Leu465=)
c.-888+345G>A (n.-888+345G>A)
c.1315C>T (p.Leu439=)
17g.4933998T>ACA397321753CHRNE,GP1BAc.1394T>A (p.Leu465Gln)
c.-888+344A>T (n.-888+344A>T)
c.1316T>A (p.Leu439Gln)
17g.4933998T>CCA8314990CHRNE,GP1BAc.1394T>C (p.Leu465Pro)
c.-888+344A>G (n.-888+344A>G)
c.1316T>C (p.Leu439Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933998T>GCA397321755CHRNE,GP1BAc.1394T>G (p.Leu465Arg)
c.-888+344A>C (n.-888+344A>C)
c.1316T>G (p.Leu439Arg)
17g.4933998T=CA2244625918CHRNE,GP1BAc.1394T= (p.Leu465=)
c.-888+344A= (n.-888+344A=)
c.1316T= (p.Leu439=)
17g.4933999G>ACA497678056CHRNE,GP1BAc.1395G>A (p.Leu465=)
c.-888+343C>T (n.-888+343C>T)
c.1317G>A (p.Leu439=)
17g.4933999G>CCA497678052CHRNE,GP1BAc.1395G>C (p.Leu465=)
c.-888+343C>G (n.-888+343C>G)
c.1317G>C (p.Leu439=)
17g.4933999G>TCA497678053CHRNE,GP1BAc.1395G>T (p.Leu465=)
c.-888+343C>A (n.-888+343C>A)
c.1317G>T (p.Leu439=)
17g.4934000G>ACA397321756CHRNE,GP1BAc.1396G>A (p.Val466Met)
c.-888+342C>T (n.-888+342C>T)
c.1318G>A (p.Val440Met)
 dbSNP gnomAD v3 gnomAD v4
17g.4934000G>CCA397321758CHRNE,GP1BAc.1396G>C (p.Val466Leu)
c.-888+342C>G (n.-888+342C>G)
c.1318G>C (p.Val440Leu)
17g.4934000G=CA2244625919CHRNE,GP1BAc.1396G= (p.Val466=)
c.-888+342C= (n.-888+342C=)
c.1318G= (p.Val440=)
17g.4934000G>TCA397321759CHRNE,GP1BAc.1396G>T (p.Val466Leu)
c.-888+342C>A (n.-888+342C>A)
c.1318G>T (p.Val440Leu)
17g.4934001T>ACA397321761CHRNE,GP1BAc.1397T>A (p.Val466Glu)
c.-888+341A>T (n.-888+341A>T)
c.1319T>A (p.Val440Glu)
17g.4934001T>CCA8314991CHRNE,GP1BAc.1397T>C (p.Val466Ala)
c.-888+341A>G (n.-888+341A>G)
c.1319T>C (p.Val440Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4934001T>GCA397321763CHRNE,GP1BAc.1397T>G (p.Val466Gly)
c.-888+341A>C (n.-888+341A>C)
c.1319T>G (p.Val440Gly)
17g.4934001T=CA2244625920CHRNE,GP1BAc.1397T= (p.Val466=)
c.-888+341A= (n.-888+341A=)
c.1319T= (p.Val440=)
17g.4934002G>ACA497678065CHRNE,GP1BAc.1398G>A (p.Val466=)
c.-888+340C>T (n.-888+340C>T)
c.1320G>A (p.Val440=)
 dbSNP gnomAD v2 gnomAD v4
17g.4934002G>CCA497678066CHRNE,GP1BAc.1398G>C (p.Val466=)
c.-888+340C>G (n.-888+340C>G)
c.1320G>C (p.Val440=)
 gnomAD v4
17g.4934002G=CA2244625921CHRNE,GP1BAc.1398G= (p.Val466=)
c.-888+340C= (n.-888+340C=)
c.1320G= (p.Val440=)
17g.4934002G>TCA497678069CHRNE,GP1BAc.1398G>T (p.Val466=)
c.-888+340C>A (n.-888+340C>A)
c.1320G>T (p.Val440=)
17g.4934003T>ACA397321765CHRNE,GP1BAc.1399T>A (p.Ser467Thr)
c.-888+339A>T (n.-888+339A>T)
c.1321T>A (p.Ser441Thr)
17g.4934003T>CCA397321766CHRNE,GP1BAc.1399T>C (p.Ser467Pro)
c.-888+339A>G (n.-888+339A>G)
c.1321T>C (p.Ser441Pro)
17g.4934003T>GCA397321768CHRNE,GP1BAc.1399T>G (p.Ser467Ala)
c.-888+339A>C (n.-888+339A>C)
c.1321T>G (p.Ser441Ala)
17g.4934004C>ACA397321770CHRNE,GP1BAc.1400C>A (p.Ser467Tyr)
c.-888+338G>T (n.-888+338G>T)
c.1322C>A (p.Ser441Tyr)
17g.4934004C>GCA397321772CHRNE,GP1BAc.1400C>G (p.Ser467Cys)
c.-888+338G>C (n.-888+338G>C)
c.1322C>G (p.Ser441Cys)
17g.4934004C>TCA397321769CHRNE,GP1BAc.1400C>T (p.Ser467Phe)
c.-888+338G>A (n.-888+338G>A)
c.1322C>T (p.Ser441Phe)
17g.4934005T>ACA497678072CHRNE,GP1BAc.1401T>A (p.Ser467=)
c.-888+337A>T (n.-888+337A>T)
c.1323T>A (p.Ser441=)
 dbSNP
17g.4934005T>CCA497678074CHRNE,GP1BAc.1401T>C (p.Ser467=)
c.-888+337A>G (n.-888+337A>G)
c.1323T>C (p.Ser441=)
17g.4934005T>GCA497678077CHRNE,GP1BAc.1401T>G (p.Ser467=)
c.-888+337A>C (n.-888+337A>C)
c.1323T>G (p.Ser441=)
17g.4934005T=CA2244625922CHRNE,GP1BAc.1401T= (p.Ser467=)
c.-888+337A= (n.-888+337A=)
c.1323T= (p.Ser441=)
17g.4934006G>ACA397321774CHRNE,GP1BAc.1402G>A (p.Ala468Thr)
c.-888+336C>T (n.-888+336C>T)
c.1324G>A (p.Ala442Thr)
17g.4934006G>CCA397321776CHRNE,GP1BAc.1402G>C (p.Ala468Pro)
c.-888+336C>G (n.-888+336C>G)
c.1324G>C (p.Ala442Pro)
17g.4934006G>TCA397321777CHRNE,GP1BAc.1402G>T (p.Ala468Ser)
c.-888+336C>A (n.-888+336C>A)
c.1324G>T (p.Ala442Ser)
17g.4934007C>ACA397321778CHRNE,GP1BAc.1403C>A (p.Ala468Asp)
c.-888+335G>T (n.-888+335G>T)
c.1325C>A (p.Ala442Asp)
17g.4934007C>GCA397321779CHRNE,GP1BAc.1403C>G (p.Ala468Gly)
c.-888+335G>C (n.-888+335G>C)
c.1325C>G (p.Ala442Gly)
17g.4934007C>TCA397321781CHRNE,GP1BAc.1403C>T (p.Ala468Val)
c.-888+335G>A (n.-888+335G>A)
c.1325C>T (p.Ala442Val)
17g.4934008C>ACA497678084CHRNE,GP1BAc.1404C>A (p.Ala468=)
c.-888+334G>T (n.-888+334G>T)
c.1326C>A (p.Ala442=)
17g.4934008C>GCA497678085CHRNE,GP1BAc.1404C>G (p.Ala468=)
c.-888+334G>C (n.-888+334G>C)
c.1326C>G (p.Ala442=)
17g.4934008C>TCA497678086CHRNE,GP1BAc.1404C>T (p.Ala468=)
c.-888+334G>A (n.-888+334G>A)
c.1326C>T (p.Ala442=)
17g.4934009A>CCA397321783CHRNE,GP1BAc.1405A>C (p.Thr469Pro)
c.-888+333T>G (n.-888+333T>G)
c.1327A>C (p.Thr443Pro)
17g.4934009A>GCA397321785CHRNE,GP1BAc.1405A>G (p.Thr469Ala)
c.-888+333T>C (n.-888+333T>C)
c.1327A>G (p.Thr443Ala)
17g.4934009A>TCA397321786CHRNE,GP1BAc.1405A>T (p.Thr469Ser)
c.-888+333T>A (n.-888+333T>A)
c.1327A>T (p.Thr443Ser)
17g.4934010C>ACA397321788CHRNE,GP1BAc.1406C>A (p.Thr469Lys)
c.-888+332G>T (n.-888+332G>T)
c.1328C>A (p.Thr443Lys)
17g.4934010C>GCA397321789CHRNE,GP1BAc.1406C>G (p.Thr469Arg)
c.-888+332G>C (n.-888+332G>C)
c.1328C>G (p.Thr443Arg)
17g.4934010C>TCA397321791CHRNE,GP1BAc.1406C>T (p.Thr469Ile)
c.-888+332G>A (n.-888+332G>A)
c.1328C>T (p.Thr443Ile)
 ClinVar gnomAD v4
17g.4934011A=CA2244625923CHRNE,GP1BAc.1407A= (p.Thr469=)
c.-888+331T= (n.-888+331T=)
c.1329A= (p.Thr443=)
17g.4934011A>CCA497678091CHRNE,GP1BAc.1407A>C (p.Thr469=)
c.-888+331T>G (n.-888+331T>G)
c.1329A>C (p.Thr443=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4934011A>GCA497678092CHRNE,GP1BAc.1407A>G (p.Thr469=)
c.-888+331T>C (n.-888+331T>C)
c.1329A>G (p.Thr443=)
17g.4934011A>TCA497678093CHRNE,GP1BAc.1407A>T (p.Thr469=)
c.-888+331T>A (n.-888+331T>A)
c.1329A>T (p.Thr443=)
17g.4934012delCA2580613962CHRNE,GP1BAc.1408del (p.Ser470AlafsTer2)
c.-888+331del (n.-888+331del)
c.1330del (p.Ser444AlafsTer2)
 ClinVar
17g.4934012A>CCA397321794CHRNE,GP1BAc.1408A>C (p.Ser470Arg)
c.-888+330T>G (n.-888+330T>G)
c.1330A>C (p.Ser444Arg)
17g.4934012A>GCA397321795CHRNE,GP1BAc.1408A>G (p.Ser470Gly)
c.-888+330T>C (n.-888+330T>C)
c.1330A>G (p.Ser444Gly)
17g.4934012A>TCA397321793CHRNE,GP1BAc.1408A>T (p.Ser470Cys)
c.-888+330T>A (n.-888+330T>A)
c.1330A>T (p.Ser444Cys)
17g.4934013G>ACA397321797CHRNE,GP1BAc.1409G>A (p.Ser470Asn)
c.-888+329C>T (n.-888+329C>T)
c.1331G>A (p.Ser444Asn)
 gnomAD v4 COSMIC
17g.4934013G>CCA397321798CHRNE,GP1BAc.1409G>C (p.Ser470Thr)
c.-888+329C>G (n.-888+329C>G)
c.1331G>C (p.Ser444Thr)
 dbSNP
17g.4934013G=CA2244625924CHRNE,GP1BAc.1409G= (p.Ser470=)
c.-888+329C= (n.-888+329C=)
c.1331G= (p.Ser444=)
17g.4934013G>TCA397321800CHRNE,GP1BAc.1409G>T (p.Ser470Ile)
c.-888+329C>A (n.-888+329C>A)
c.1331G>T (p.Ser444Ile)
17g.4934014C>ACA397321801CHRNE,GP1BAc.1410C>A (p.Ser470Arg)
c.-888+328G>T (n.-888+328G>T)
c.1332C>A (p.Ser444Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.4934014C=CA2244625925CHRNE,GP1BAc.1410C= (p.Ser470=)
c.-888+328G= (n.-888+328G=)
c.1332C= (p.Ser444=)
17g.4934014C>GCA397321802CHRNE,GP1BAc.1410C>G (p.Ser470Arg)
c.-888+328G>C (n.-888+328G>C)
c.1332C>G (p.Ser444Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4934014C>TCA497678104CHRNE,GP1BAc.1410C>T (p.Ser470=)
c.-888+328G>A (n.-888+328G>A)
c.1332C>T (p.Ser444=)
17g.4934015C>ACA397321806CHRNE,GP1BAc.1411C>A (p.Leu471Met)
c.-888+327G>T (n.-888+327G>T)
c.1333C>A (p.Leu445Met)
17g.4934015C>GCA397321804CHRNE,GP1BAc.1411C>G (p.Leu471Val)
c.-888+327G>C (n.-888+327G>C)
c.1333C>G (p.Leu445Val)
17g.4934015C>TCA497678105CHRNE,GP1BAc.1411C>T (p.Leu471=)
c.-888+327G>A (n.-888+327G>A)
c.1333C>T (p.Leu445=)
17g.4934016T>ACA397321807CHRNE,GP1BAc.1412T>A (p.Leu471Gln)
c.-888+326A>T (n.-888+326A>T)
c.1334T>A (p.Leu445Gln)
17g.4934016T>CCA397321808CHRNE,GP1BAc.1412T>C (p.Leu471Pro)
c.-888+326A>G (n.-888+326A>G)
c.1334T>C (p.Leu445Pro)
17g.4934016T>GCA397321809CHRNE,GP1BAc.1412T>G (p.Leu471Arg)
c.-888+326A>C (n.-888+326A>C)
c.1334T>G (p.Leu445Arg)
17g.4934017G>ACA497678110CHRNE,GP1BAc.1413G>A (p.Leu471=)
c.-888+325C>T (n.-888+325C>T)
c.1335G>A (p.Leu445=)
17g.4934017G>CCA497678112CHRNE,GP1BAc.1413G>C (p.Leu471=)
c.-888+325C>G (n.-888+325C>G)
c.1335G>C (p.Leu445=)
17g.4934017G>TCA497678114CHRNE,GP1BAc.1413G>T (p.Leu471=)
c.-888+325C>A (n.-888+325C>A)
c.1335G>T (p.Leu445=)
17g.4934018A=CA2244625926CHRNE,GP1BAc.1414A= (p.Ile472=)
c.-888+324T= (n.-888+324T=)
c.1336A= (p.Ile446=)
17g.4934018A>CCA8314992CHRNE,GP1BAc.1414A>C (p.Ile472Leu)
c.-888+324T>G (n.-888+324T>G)
c.1336A>C (p.Ile446Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4934018A>GCA397321810CHRNE,GP1BAc.1414A>G (p.Ile472Val)
c.-888+324T>C (n.-888+324T>C)
c.1336A>G (p.Ile446Val)
17g.4934018A>TCA397321811CHRNE,GP1BAc.1414A>T (p.Ile472Phe)
c.-888+324T>A (n.-888+324T>A)
c.1336A>T (p.Ile446Phe)
17g.4934019T>ACA397321816CHRNE,GP1BAc.1415T>A (p.Ile472Asn)
c.-888+323A>T (n.-888+323A>T)
c.1337T>A (p.Ile446Asn)
17g.4934019T>CCA397321814CHRNE,GP1BAc.1415T>C (p.Ile472Thr)
c.-888+323A>G (n.-888+323A>G)
c.1337T>C (p.Ile446Thr)
17g.4934019T>GCA397321813CHRNE,GP1BAc.1415T>G (p.Ile472Ser)
c.-888+323A>C (n.-888+323A>C)
c.1337T>G (p.Ile446Ser)
17g.4934020C>ACA497678122CHRNE,GP1BAc.1416C>A (p.Ile472=)
c.-888+322G>T (n.-888+322G>T)
c.1338C>A (p.Ile446=)
 dbSNP
17g.4934020C>GCA397321818CHRNE,GP1BAc.1416C>G (p.Ile472Met)
c.-888+322G>C (n.-888+322G>C)
c.1338C>G (p.Ile446Met)
17g.4934020C>TCA497678120CHRNE,GP1BAc.1416C>T (p.Ile472=)
c.-888+322G>A (n.-888+322G>A)
c.1338C>T (p.Ile446=)
17g.4934021A=CA2244625927CHRNE,GP1BAc.1417A= (p.Thr473=)
c.-888+321T= (n.-888+321T=)
c.1339A= (p.Thr447=)
17g.4934021A>CCA397321820CHRNE,GP1BAc.1417A>C (p.Thr473Pro)
c.-888+321T>G (n.-888+321T>G)
c.1339A>C (p.Thr447Pro)
17g.4934021A>GCA8314993CHRNE,GP1BAc.1417A>G (p.Thr473Ala)
c.-888+321T>C (n.-888+321T>C)
c.1339A>G (p.Thr447Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934021A>TCA397321822CHRNE,GP1BAc.1417A>T (p.Thr473Ser)
c.-888+321T>A (n.-888+321T>A)
c.1339A>T (p.Thr447Ser)
 gnomAD v4
17g.4934022C>ACA397321824CHRNE,GP1BAc.1418C>A (p.Thr473Asn)
c.-888+320G>T (n.-888+320G>T)
c.1340C>A (p.Thr447Asn)
17g.4934022C=CA2244625928CHRNE,GP1BAc.1418C= (p.Thr473=)
c.-888+320G= (n.-888+320G=)
c.1340C= (p.Thr447=)
17g.4934022C>GCA397321826CHRNE,GP1BAc.1418C>G (p.Thr473Ser)
c.-888+320G>C (n.-888+320G>C)
c.1340C>G (p.Thr447Ser)
17g.4934022C>TCA287217581CHRNE,GP1BAc.1418C>T (p.Thr473Ile)
c.-888+320G>A (n.-888+320G>A)
c.1340C>T (p.Thr447Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4934023T>ACA497678130CHRNE,GP1BAc.1419T>A (p.Thr473=)
c.-888+319A>T (n.-888+319A>T)
c.1341T>A (p.Thr447=)
17g.4934023T>CCA497678132CHRNE,GP1BAc.1419T>C (p.Thr473=)
c.-888+319A>G (n.-888+319A>G)
c.1341T>C (p.Thr447=)
 dbSNP gnomAD v4
17g.4934023T>GCA497678133CHRNE,GP1BAc.1419T>G (p.Thr473=)
c.-888+319A>C (n.-888+319A>C)
c.1341T>G (p.Thr447=)
17g.4934023T=CA2244625929CHRNE,GP1BAc.1419T= (p.Thr473=)
c.-888+319A= (n.-888+319A=)
c.1341T= (p.Thr447=)
17g.4934024C>ACA397321827CHRNE,GP1BAc.1420C>A (p.Pro474Thr)
c.-888+318G>T (n.-888+318G>T)
c.1342C>A (p.Pro448Thr)
17g.4934024C=CA2244625930CHRNE,GP1BAc.1420C= (p.Pro474=)
c.-888+318G= (n.-888+318G=)
c.1342C= (p.Pro448=)
17g.4934024C>GCA397321828CHRNE,GP1BAc.1420C>G (p.Pro474Ala)
c.-888+318G>C (n.-888+318G>C)
c.1342C>G (p.Pro448Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.4934024C>TCA397321829CHRNE,GP1BAc.1420C>T (p.Pro474Ser)
c.-888+318G>A (n.-888+318G>A)
c.1342C>T (p.Pro448Ser)
 gnomAD v4
17g.4934025C>ACA397321831CHRNE,GP1BAc.1421C>A (p.Pro474Gln)
c.-888+317G>T (n.-888+317G>T)
c.1343C>A (p.Pro448Gln)
 dbSNP gnomAD v4
17g.4934025C=CA2244625931CHRNE,GP1BAc.1421C= (p.Pro474=)
c.-888+317G= (n.-888+317G=)
c.1343C= (p.Pro448=)
17g.4934025C>GCA397321832CHRNE,GP1BAc.1421C>G (p.Pro474Arg)
c.-888+317G>C (n.-888+317G>C)
c.1343C>G (p.Pro448Arg)
17g.4934025C>TCA397321833CHRNE,GP1BAc.1421C>T (p.Pro474Leu)
c.-888+317G>A (n.-888+317G>A)
c.1343C>T (p.Pro448Leu)
17g.4934026A=CA2244625932CHRNE,GP1BAc.1422A= (p.Pro474=)
c.-888+316T= (n.-888+316T=)
c.1344A= (p.Pro448=)
17g.4934026A>CCA497678139CHRNE,GP1BAc.1422A>C (p.Pro474=)
c.-888+316T>G (n.-888+316T>G)
c.1344A>C (p.Pro448=)
17g.4934026A>GCA497678138CHRNE,GP1BAc.1422A>G (p.Pro474=)
c.-888+316T>C (n.-888+316T>C)
c.1344A>G (p.Pro448=)
 dbSNP gnomAD v2 gnomAD v4
17g.4934026A>TCA497678142CHRNE,GP1BAc.1422A>T (p.Pro474=)
c.-888+316T>A (n.-888+316T>A)
c.1344A>T (p.Pro448=)
17g.4934027A>CCA397321835CHRNE,GP1BAc.1423A>C (p.Lys475Gln)
c.-888+315T>G (n.-888+315T>G)
c.1345A>C (p.Lys449Gln)
17g.4934027A>GCA397321837CHRNE,GP1BAc.1423A>G (p.Lys475Glu)
c.-888+315T>C (n.-888+315T>C)
c.1345A>G (p.Lys449Glu)
17g.4934027A>TCA397321839CHRNE,GP1BAc.1423A>T (p.Lys475Ter)
c.-888+315T>A (n.-888+315T>A)
c.1345A>T (p.Lys449Ter)
17g.4934028A=CA2244625933CHRNE,GP1BAc.1424A= (p.Lys475=)
c.-888+314T= (n.-888+314T=)
c.1346A= (p.Lys449=)
17g.4934028A>CCA397321840CHRNE,GP1BAc.1424A>C (p.Lys475Thr)
c.-888+314T>G (n.-888+314T>G)
c.1346A>C (p.Lys449Thr)
17g.4934028A>GCA8314994CHRNE,GP1BAc.1424A>G (p.Lys475Arg)
c.-888+314T>C (n.-888+314T>C)
c.1346A>G (p.Lys449Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934028A>TCA397321842CHRNE,GP1BAc.1424A>T (p.Lys475Ile)
c.-888+314T>A (n.-888+314T>A)
c.1346A>T (p.Lys449Ile)
17g.4934029A>CCA397321844CHRNE,GP1BAc.1425A>C (p.Lys475Asn)
c.-888+313T>G (n.-888+313T>G)
c.1347A>C (p.Lys449Asn)
17g.4934029A>GCA497678153CHRNE,GP1BAc.1425A>G (p.Lys475=)
c.-888+313T>C (n.-888+313T>C)
c.1347A>G (p.Lys449=)
17g.4934029A>TCA397321846CHRNE,GP1BAc.1425A>T (p.Lys475Asn)
c.-888+313T>A (n.-888+313T>A)
c.1347A>T (p.Lys449Asn)
17g.4934030A>CCA397321847CHRNE,GP1BAc.1426A>C (p.Ser476Arg)
c.-888+312T>G (n.-888+312T>G)
c.1348A>C (p.Ser450Arg)
17g.4934030A>GCA397321848CHRNE,GP1BAc.1426A>G (p.Ser476Gly)
c.-888+312T>C (n.-888+312T>C)
c.1348A>G (p.Ser450Gly)
17g.4934030A>TCA397321849CHRNE,GP1BAc.1426A>T (p.Ser476Cys)
c.-888+312T>A (n.-888+312T>A)
c.1348A>T (p.Ser450Cys)
17g.4934031G>ACA397321850CHRNE,GP1BAc.1427G>A (p.Ser476Asn)
c.-888+311C>T (n.-888+311C>T)
c.1349G>A (p.Ser450Asn)
17g.4934031G>CCA397321851CHRNE,GP1BAc.1427G>C (p.Ser476Thr)
c.-888+311C>G (n.-888+311C>G)
c.1349G>C (p.Ser450Thr)
17g.4934031G>TCA397321852CHRNE,GP1BAc.1427G>T (p.Ser476Ile)
c.-888+311C>A (n.-888+311C>A)
c.1349G>T (p.Ser450Ile)
17g.4934032C>ACA397321853CHRNE,GP1BAc.1428C>A (p.Ser476Arg)
c.-888+310G>T (n.-888+310G>T)
c.1350C>A (p.Ser450Arg)
17g.4934032C=CA2244625934CHRNE,GP1BAc.1428C= (p.Ser476=)
c.-888+310G= (n.-888+310G=)
c.1350C= (p.Ser450=)
17g.4934032C>GCA397321855CHRNE,GP1BAc.1428C>G (p.Ser476Arg)
c.-888+310G>C (n.-888+310G>C)
c.1350C>G (p.Ser450Arg)
17g.4934032C>TCA497678165CHRNE,GP1BAc.1428C>T (p.Ser476=)
c.-888+310G>A (n.-888+310G>A)
c.1350C>T (p.Ser450=)
 dbSNP gnomAD v2
17g.4934033A=CA2244625935CHRNE,GP1BAc.1429A= (p.Thr477=)
c.-888+309T= (n.-888+309T=)
c.1351A= (p.Thr451=)
17g.4934033A>CCA397321856CHRNE,GP1BAc.1429A>C (p.Thr477Pro)
c.-888+309T>G (n.-888+309T>G)
c.1351A>C (p.Thr451Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.4934033A>GCA397321858CHRNE,GP1BAc.1429A>G (p.Thr477Ala)
c.-888+309T>C (n.-888+309T>C)
c.1351A>G (p.Thr451Ala)
17g.4934033A>TCA397321860CHRNE,GP1BAc.1429A>T (p.Thr477Ser)
c.-888+309T>A (n.-888+309T>A)
c.1351A>T (p.Thr451Ser)
17g.4934034C>ACA397321862CHRNE,GP1BAc.1430C>A (p.Thr477Lys)
c.-888+308G>T (n.-888+308G>T)
c.1352C>A (p.Thr451Lys)
17g.4934034C=CA2244625936CHRNE,GP1BAc.1430C= (p.Thr477=)
c.-888+308G= (n.-888+308G=)
c.1352C= (p.Thr451=)
17g.4934034C>GCA397321864CHRNE,GP1BAc.1430C>G (p.Thr477Arg)
c.-888+308G>C (n.-888+308G>C)
c.1352C>G (p.Thr451Arg)
17g.4934034C>TCA397321861CHRNE,GP1BAc.1430C>T (p.Thr477Ile)
c.-888+308G>A (n.-888+308G>A)
c.1352C>T (p.Thr451Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4934035A=CA2244625937CHRNE,GP1BAc.1431A= (p.Thr477=)
c.-888+307T= (n.-888+307T=)
c.1353A= (p.Thr451=)
17g.4934035A>CCA497678174CHRNE,GP1BAc.1431A>C (p.Thr477=)
c.-888+307T>G (n.-888+307T>G)
c.1353A>C (p.Thr451=)
17g.4934035A>GCA8314995CHRNE,GP1BAc.1431A>G (p.Thr477=)
c.-888+307T>C (n.-888+307T>C)
c.1353A>G (p.Thr451=)
 dbSNP ExAC gnomAD v2
17g.4934035A>TCA497678176CHRNE,GP1BAc.1431A>T (p.Thr477=)
c.-888+307T>A (n.-888+307T>A)
c.1353A>T (p.Thr451=)
 dbSNP
17g.4934035_4934036delinsATCA2244625938CHRNE,GP1BAc.1431_1432delinsAT (p.Thr477=)
c.-888+306_-888+307delinsAT (n.-888+306_-888+307delinsAT)
c.1353_1354delinsAT (p.Thr451=)
17g.4934036T>ACA397321865CHRNE,GP1BAc.1432T>A (p.Phe478Ile)
c.-888+306A>T (n.-888+306A>T)
c.1354T>A (p.Phe452Ile)
17g.4934036T>CCA397321867CHRNE,GP1BAc.1432T>C (p.Phe478Leu)
c.-888+306A>G (n.-888+306A>G)
c.1354T>C (p.Phe452Leu)
17g.4934036T>GCA397321868CHRNE,GP1BAc.1432T>G (p.Phe478Val)
c.-888+306A>C (n.-888+306A>C)
c.1354T>G (p.Phe452Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.4934036T=CA2244625939CHRNE,GP1BAc.1432T= (p.Phe478=)
c.-888+306A= (n.-888+306A=)
c.1354T= (p.Phe452=)
17g.4934040dupCA2695224152CHRNE,GP1BAc.1436dup (p.Leu479PhefsTer19)
c.-888+306dup (n.-888+306dup)
c.1358dup (p.Leu453PhefsTer19)
17g.4934040delCA772703383CHRNE,GP1BAc.1436del (p.Leu479Ter)
c.-888+306del (n.-888+306del)
c.1358del (p.Leu453Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4934037T>ACA397321870CHRNE,GP1BAc.1433T>A (p.Phe478Tyr)
c.-888+305A>T (n.-888+305A>T)
c.1355T>A (p.Phe452Tyr)
17g.4934037T>CCA287217595CHRNE,GP1BAc.1433T>C (p.Phe478Ser)
c.-888+305A>G (n.-888+305A>G)
c.1355T>C (p.Phe452Ser)
 dbSNP
17g.4934037T>GCA397321872CHRNE,GP1BAc.1433T>G (p.Phe478Cys)
c.-888+305A>C (n.-888+305A>C)
c.1355T>G (p.Phe452Cys)
17g.4934037T=CA2244625940CHRNE,GP1BAc.1433T= (p.Phe478=)
c.-888+305A= (n.-888+305A=)
c.1355T= (p.Phe452=)
17g.4934038T>ACA397321874CHRNE,GP1BAc.1434T>A (p.Phe478Leu)
c.-888+304A>T (n.-888+304A>T)
c.1356T>A (p.Phe452Leu)
17g.4934038T>CCA497678185CHRNE,GP1BAc.1434T>C (p.Phe478=)
c.-888+304A>G (n.-888+304A>G)
c.1356T>C (p.Phe452=)
 gnomAD v4
17g.4934038T>GCA397321875CHRNE,GP1BAc.1434T>G (p.Phe478Leu)
c.-888+304A>C (n.-888+304A>C)
c.1356T>G (p.Phe452Leu)
17g.4934039T>ACA397321877CHRNE,GP1BAc.1435T>A (p.Leu479Ile)
c.-888+303A>T (n.-888+303A>T)
c.1357T>A (p.Leu453Ile)
17g.4934039T>CCA397321879CHRNE,GP1BAc.1435T>C (p.Leu479=)
c.-888+303A>G (n.-888+303A>G)
c.1357T>C (p.Leu453=)
 dbSNP
17g.4934039T>GCA8314996CHRNE,GP1BAc.1435T>G (p.Leu479Val)
c.-888+303A>C (n.-888+303A>C)
c.1357T>G (p.Leu453Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934039T=CA2244625941CHRNE,GP1BAc.1435T= (p.Leu479=)
c.-888+303A= (n.-888+303A=)
c.1357T= (p.Leu453=)
17g.4934040T>ACA287217596CHRNE,GP1BAc.1436T>A (p.Leu479Ter)
c.-888+302A>T (n.-888+302A>T)
c.1358T>A (p.Leu453Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.4934040T>CCA397321883CHRNE,GP1BAc.1436T>C (p.Leu479Ser)
c.-888+302A>G (n.-888+302A>G)
c.1358T>C (p.Leu453Ser)
17g.4934040T>GCA397321881CHRNE,GP1BAc.1436T>G (p.Leu479Ter)
c.-888+302A>C (n.-888+302A>C)
c.1358T>G (p.Leu453Ter)
17g.4934040T=CA2244625942CHRNE,GP1BAc.1436T= (p.Leu479=)
c.-888+302A= (n.-888+302A=)
c.1358T= (p.Leu453=)
17g.4934041A>CCA397321885CHRNE,GP1BAc.1437A>C (p.Leu479Phe)
c.-888+301T>G (n.-888+301T>G)
c.1359A>C (p.Leu453Phe)
17g.4934041A>GCA497678198CHRNE,GP1BAc.1437A>G (p.Leu479=)
c.-888+301T>C (n.-888+301T>C)
c.1359A>G (p.Leu453=)
17g.4934041A>TCA397321887CHRNE,GP1BAc.1437A>T (p.Leu479Phe)
c.-888+301T>A (n.-888+301T>A)
c.1359A>T (p.Leu453Phe)
17g.4934042A=CA2244625943CHRNE,GP1BAc.1438A= (p.Thr480=)
c.-888+300T= (n.-888+300T=)
c.1360A= (p.Thr454=)
17g.4934042A>CCA397321888CHRNE,GP1BAc.1438A>C (p.Thr480Pro)
c.-888+300T>G (n.-888+300T>G)
c.1360A>C (p.Thr454Pro)
17g.4934042A>GCA397321889CHRNE,GP1BAc.1438A>G (p.Thr480Ala)
c.-888+300T>C (n.-888+300T>C)
c.1360A>G (p.Thr454Ala)
17g.4934042A>TCA8314997CHRNE,GP1BAc.1438A>T (p.Thr480Ser)
c.-888+300T>A (n.-888+300T>A)
c.1360A>T (p.Thr454Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934043C>ACA397321894CHRNE,GP1BAc.1439C>A (p.Thr480Asn)
c.-888+299G>T (n.-888+299G>T)
c.1361C>A (p.Thr454Asn)
17g.4934043C=CA2244625944CHRNE,GP1BAc.1439C= (p.Thr480=)
c.-888+299G= (n.-888+299G=)
c.1361C= (p.Thr454=)
17g.4934043C>GCA397321891CHRNE,GP1BAc.1439C>G (p.Thr480Ser)
c.-888+299G>C (n.-888+299G>C)
c.1361C>G (p.Thr454Ser)
17g.4934043C>TCA8314998CHRNE,GP1BAc.1439C>T (p.Thr480Ile)
c.-888+299G>A (n.-888+299G>A)
c.1361C>T (p.Thr454Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934044T>ACA497678209CHRNE,GP1BAc.1440T>A (p.Thr480=)
c.-888+298A>T (n.-888+298A>T)
c.1362T>A (p.Thr454=)
17g.4934044T>CCA497678211CHRNE,GP1BAc.1440T>C (p.Thr480=)
c.-888+298A>G (n.-888+298A>G)
c.1362T>C (p.Thr454=)
17g.4934044T>GCA497678215CHRNE,GP1BAc.1440T>G (p.Thr480=)
c.-888+298A>C (n.-888+298A>C)
c.1362T>G (p.Thr454=)
 dbSNP
17g.4934044T=CA2244625945CHRNE,GP1BAc.1440T= (p.Thr480=)
c.-888+298A= (n.-888+298A=)
c.1362T= (p.Thr454=)
17g.4934045A>CCA397321895CHRNE,GP1BAc.1441A>C (p.Thr481Pro)
c.-888+297T>G (n.-888+297T>G)
c.1363A>C (p.Thr455Pro)
17g.4934045A>GCA397321896CHRNE,GP1BAc.1441A>G (p.Thr481Ala)
c.-888+297T>C (n.-888+297T>C)
c.1363A>G (p.Thr455Ala)
17g.4934045A>TCA397321897CHRNE,GP1BAc.1441A>T (p.Thr481Ser)
c.-888+297T>A (n.-888+297T>A)
c.1363A>T (p.Thr455Ser)
17g.4934046C>ACA397321899CHRNE,GP1BAc.1442C>A (p.Thr481Asn)
c.-888+296G>T (n.-888+296G>T)
c.1364C>A (p.Thr455Asn)
17g.4934046C=CA2244625946CHRNE,GP1BAc.1442C= (p.Thr481=)
c.-888+296G= (n.-888+296G=)
c.1364C= (p.Thr455=)
17g.4934046C>GCA397321901CHRNE,GP1BAc.1442C>G (p.Thr481Ser)
c.-888+296G>C (n.-888+296G>C)
c.1364C>G (p.Thr455Ser)
17g.4934046C>TCA287217616CHRNE,GP1BAc.1442C>T (p.Thr481Ile)
c.-888+296G>A (n.-888+296G>A)
c.1364C>T (p.Thr455Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.4934047C>ACA497678222CHRNE,GP1BAc.1443C>A (p.Thr481=)
c.-888+295G>T (n.-888+295G>T)
c.1365C>A (p.Thr455=)
17g.4934047C>GCA497678219CHRNE,GP1BAc.1443C>G (p.Thr481=)
c.-888+295G>C (n.-888+295G>C)
c.1365C>G (p.Thr455=)
17g.4934047C>TCA497678218CHRNE,GP1BAc.1443C>T (p.Thr481=)
c.-888+295G>A (n.-888+295G>A)
c.1365C>T (p.Thr455=)
17g.4934048A>CCA397321906CHRNE,GP1BAc.1444A>C (p.Thr482Pro)
c.-888+294T>G (n.-888+294T>G)
c.1366A>C (p.Thr456Pro)
17g.4934048A>GCA397321904CHRNE,GP1BAc.1444A>G (p.Thr482Ala)
c.-888+294T>C (n.-888+294T>C)
c.1366A>G (p.Thr456Ala)
 gnomAD v4
17g.4934048A>TCA397321903CHRNE,GP1BAc.1444A>T (p.Thr482Ser)
c.-888+294T>A (n.-888+294T>A)
c.1366A>T (p.Thr456Ser)
17g.4934049C>ACA397321911CHRNE,GP1BAc.1445C>A (p.Thr482Lys)
c.-888+293G>T (n.-888+293G>T)
c.1367C>A (p.Thr456Lys)
17g.4934049C>GCA397321908CHRNE,GP1BAc.1445C>G (p.Thr482Arg)
c.-888+293G>C (n.-888+293G>C)
c.1367C>G (p.Thr456Arg)
17g.4934049C>TCA397321910CHRNE,GP1BAc.1445C>T (p.Thr482Ile)
c.-888+293G>A (n.-888+293G>A)
c.1367C>T (p.Thr456Ile)
 gnomAD v4
17g.4934050A>CCA497678227CHRNE,GP1BAc.1446A>C (p.Thr482=)
c.-888+292T>G (n.-888+292T>G)
c.1368A>C (p.Thr456=)
17g.4934050A>GCA497678226CHRNE,GP1BAc.1446A>G (p.Thr482=)
c.-888+292T>C (n.-888+292T>C)
c.1368A>G (p.Thr456=)
17g.4934050A>TCA497678225CHRNE,GP1BAc.1446A>T (p.Thr482=)
c.-888+292T>A (n.-888+292T>A)
c.1368A>T (p.Thr456=)
17g.4934053delCA2635579327CHRNE,GP1BAc.1449del (p.Lys483AsnfsTer6)
c.-888+292del (n.-888+292del)
c.1371del (p.Lys457AsnfsTer6)
 gnomAD v4
17g.4934051A>CCA397321912CHRNE,GP1BAc.1447A>C (p.Lys483Gln)
c.-888+291T>G (n.-888+291T>G)
c.1369A>C (p.Lys457Gln)
17g.4934051A>GCA397321913CHRNE,GP1BAc.1447A>G (p.Lys483Glu)
c.-888+291T>C (n.-888+291T>C)
c.1369A>G (p.Lys457Glu)
17g.4934051A>TCA397321914CHRNE,GP1BAc.1447A>T (p.Lys483Ter)
c.-888+291T>A (n.-888+291T>A)
c.1369A>T (p.Lys457Ter)
17g.4934052A>CCA397321916CHRNE,GP1BAc.1448A>C (p.Lys483Thr)
c.-888+290T>G (n.-888+290T>G)
c.1370A>C (p.Lys457Thr)
17g.4934052A>GCA397321917CHRNE,GP1BAc.1448A>G (p.Lys483Arg)
c.-888+290T>C (n.-888+290T>C)
c.1370A>G (p.Lys457Arg)
17g.4934052A>TCA397321918CHRNE,GP1BAc.1448A>T (p.Lys483Ile)
c.-888+290T>A (n.-888+290T>A)
c.1370A>T (p.Lys457Ile)
17g.4934053A>CCA397321920CHRNE,GP1BAc.1449A>C (p.Lys483Asn)
c.-888+289T>G (n.-888+289T>G)
c.1371A>C (p.Lys457Asn)
17g.4934053A>GCA497678238CHRNE,GP1BAc.1449A>G (p.Lys483=)
c.-888+289T>C (n.-888+289T>C)
c.1371A>G (p.Lys457=)
17g.4934053A>TCA397321922CHRNE,GP1BAc.1449A>T (p.Lys483Asn)
c.-888+289T>A (n.-888+289T>A)
c.1371A>T (p.Lys457Asn)
17g.4934054C>ACA397321923CHRNE,GP1BAc.1450C>A (p.Pro484Thr)
c.-888+288G>T (n.-888+288G>T)
c.1372C>A (p.Pro458Thr)
17g.4934054C>GCA397321924CHRNE,GP1BAc.1450C>G (p.Pro484Ala)
c.-888+288G>C (n.-888+288G>C)
c.1372C>G (p.Pro458Ala)
17g.4934054C>TCA397321926CHRNE,GP1BAc.1450C>T (p.Pro484Ser)
c.-888+288G>A (n.-888+288G>A)
c.1372C>T (p.Pro458Ser)
17g.4934056delCA2576136030CHRNE,GP1BAc.1452del (p.Val485TyrfsTer4)
c.-888+288del (n.-888+288del)
c.1374del (p.Val459TyrfsTer4)
 gnomAD v4
17g.4934055C>ACA397321931CHRNE,GP1BAc.1451C>A (p.Pro484His)
c.-888+287G>T (n.-888+287G>T)
c.1373C>A (p.Pro458His)
17g.4934055C=CA2244625947CHRNE,GP1BAc.1451C= (p.Pro484=)
c.-888+287G= (n.-888+287G=)
c.1373C= (p.Pro458=)
17g.4934055C>GCA397321929CHRNE,GP1BAc.1451C>G (p.Pro484Arg)
c.-888+287G>C (n.-888+287G>C)
c.1373C>G (p.Pro458Arg)
 dbSNP
17g.4934055C>TCA397321928CHRNE,GP1BAc.1451C>T (p.Pro484Leu)
c.-888+287G>A (n.-888+287G>A)
c.1373C>T (p.Pro458Leu)
17g.4934056C>ACA497678244CHRNE,GP1BAc.1452C>A (p.Pro484=)
c.-888+286G>T (n.-888+286G>T)
c.1374C>A (p.Pro458=)
 gnomAD v4 COSMIC
17g.4934056C=CA2244625948CHRNE,GP1BAc.1452C= (p.Pro484=)
c.-888+286G= (n.-888+286G=)
c.1374C= (p.Pro458=)
17g.4934056C>GCA497678247CHRNE,GP1BAc.1452C>G (p.Pro484=)
c.-888+286G>C (n.-888+286G>C)
c.1374C>G (p.Pro458=)
 gnomAD v4
17g.4934056C>TCA8314999CHRNE,GP1BAc.1452C>T (p.Pro484=)
c.-888+286G>A (n.-888+286G>A)
c.1374C>T (p.Pro458=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934057G>ACA8315000CHRNE,GP1BAc.1453G>A (p.Val485Ile)
c.-888+285C>T (n.-888+285C>T)
c.1375G>A (p.Val459Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4934057G>CCA397321934CHRNE,GP1BAc.1453G>C (p.Val485Leu)
c.-888+285C>G (n.-888+285C>G)
c.1375G>C (p.Val459Leu)
 dbSNP
17g.4934057G=CA2244625949CHRNE,GP1BAc.1453G= (p.Val485=)
c.-888+285C= (n.-888+285C=)
c.1375G= (p.Val459=)
17g.4934057G>TCA8315001CHRNE,GP1BAc.1453G>T (p.Val485Leu)
c.-888+285C>A (n.-888+285C>A)
c.1375G>T (p.Val459Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4934058T>ACA397321938CHRNE,GP1BAc.1454T>A (p.Val485Glu)
c.-888+284A>T (n.-888+284A>T)
c.1376T>A (p.Val459Glu)
17g.4934058T>CCA397321940CHRNE,GP1BAc.1454T>C (p.Val485Ala)
c.-888+284A>G (n.-888+284A>G)
c.1376T>C (p.Val459Ala)
 dbSNP
17g.4934058T>GCA397321941CHRNE,GP1BAc.1454T>G (p.Val485Gly)
c.-888+284A>C (n.-888+284A>C)
c.1376T>G (p.Val459Gly)
17g.4934058T=CA2244625950CHRNE,GP1BAc.1454T= (p.Val485=)
c.-888+284A= (n.-888+284A=)
c.1376T= (p.Val459=)
17g.4934058_4934059insCCTCA2635579348CHRNE,GP1BAc.1454_1455insCCT (p.Val485_Ser486insLeu)
c.-888+284_-888+285insGGA (n.-888+284_-888+285insGGA)
c.1376_1377insCCT (p.Val459_Ser460insLeu)
 gnomAD v4
17g.4934058dupCA8315002CHRNE,GP1BAc.1454dup (p.Ser486IlefsTer12)
c.-888+284dup (n.-888+284dup)
c.1376dup (p.Ser460IlefsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934059A=CA2244625951CHRNE,GP1BAc.1455A= (p.Val485=)
c.-888+283T= (n.-888+283T=)
c.1377A= (p.Val459=)
17g.4934059A>CCA497678262CHRNE,GP1BAc.1455A>C (p.Val485=)
c.-888+283T>G (n.-888+283T>G)
c.1377A>C (p.Val459=)
17g.4934059A>GCA497678258CHRNE,GP1BAc.1455A>G (p.Val485=)
c.-888+283T>C (n.-888+283T>C)
c.1377A>G (p.Val459=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.4934059A>TCA497678260CHRNE,GP1BAc.1455A>T (p.Val485=)
c.-888+283T>A (n.-888+283T>A)
c.1377A>T (p.Val459=)
17g.4934060T>ACA397321943CHRNE,GP1BAc.1456T>A (p.Ser486Thr)
c.-888+282A>T (n.-888+282A>T)
c.1378T>A (p.Ser460Thr)
17g.4934060T>CCA397321945CHRNE,GP1BAc.1456T>C (p.Ser486Pro)
c.-888+282A>G (n.-888+282A>G)
c.1378T>C (p.Ser460Pro)
17g.4934060T>GCA397321947CHRNE,GP1BAc.1456T>G (p.Ser486Ala)
c.-888+282A>C (n.-888+282A>C)
c.1378T>G (p.Ser460Ala)
17g.4934061C>ACA397321949CHRNE,GP1BAc.1457C>A (p.Ser486Ter)
c.-888+281G>T (n.-888+281G>T)
c.1379C>A (p.Ser460Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.4934061C=CA2244625952CHRNE,GP1BAc.1457C= (p.Ser486=)
c.-888+281G= (n.-888+281G=)
c.1379C= (p.Ser460=)
17g.4934061C>GCA397321951CHRNE,GP1BAc.1457C>G (p.Ser486Ter)
c.-888+281G>C (n.-888+281G>C)
c.1379C>G (p.Ser460Ter)
17g.4934061C>TCA397321952CHRNE,GP1BAc.1457C>T (p.Ser486Leu)
c.-888+281G>A (n.-888+281G>A)
c.1379C>T (p.Ser460Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.4934064_4934076delCA2635579356CHRNE,GP1BAc.1460_1472del (p.Leu487ProfsTer?)
c.-888+269_-888+281del (n.-888+269_-888+281del)
c.1382_1394del (p.Leu461ProfsTer?)
 gnomAD v4
17g.4934062A>CCA497678266CHRNE,GP1BAc.1458A>C (p.Ser486=)
c.-888+280T>G (n.-888+280T>G)
c.1380A>C (p.Ser460=)
17g.4934062A>GCA497678267CHRNE,GP1BAc.1458A>G (p.Ser486=)
c.-888+280T>C (n.-888+280T>C)
c.1380A>G (p.Ser460=)
17g.4934062A>TCA497678268CHRNE,GP1BAc.1458A>T (p.Ser486=)
c.-888+280T>A (n.-888+280T>A)
c.1380A>T (p.Ser460=)
17g.4934063C>ACA397321956CHRNE,GP1BAc.1459C>A (p.Leu487Ile)
c.-888+279G>T (n.-888+279G>T)
c.1381C>A (p.Leu461Ile)
17g.4934063C>GCA397321958CHRNE,GP1BAc.1459C>G (p.Leu487Val)
c.-888+279G>C (n.-888+279G>C)
c.1381C>G (p.Leu461Val)
17g.4934063C>TCA397321955CHRNE,GP1BAc.1459C>T (p.Leu487Phe)
c.-888+279G>A (n.-888+279G>A)
c.1381C>T (p.Leu461Phe)
17g.4934064T>ACA397321959CHRNE,GP1BAc.1460T>A (p.Leu487His)
c.-888+278A>T (n.-888+278A>T)
c.1382T>A (p.Leu461His)
17g.4934064T>CCA397321960CHRNE,GP1BAc.1460T>C (p.Leu487Pro)
c.-888+278A>G (n.-888+278A>G)
c.1382T>C (p.Leu461Pro)
 dbSNP
17g.4934064T>GCA397321962CHRNE,GP1BAc.1460T>G (p.Leu487Arg)
c.-888+278A>C (n.-888+278A>C)
c.1382T>G (p.Leu461Arg)
17g.4934064T=CA2244625953CHRNE,GP1BAc.1460T= (p.Leu487=)
c.-888+278A= (n.-888+278A=)
c.1382T= (p.Leu461=)
17g.4934065C>ACA497678273CHRNE,GP1BAc.1461C>A (p.Leu487=)
c.-888+277G>T (n.-888+277G>T)
c.1383C>A (p.Leu461=)
17g.4934065C>GCA497678275CHRNE,GP1BAc.1461C>G (p.Leu487=)
c.-888+277G>C (n.-888+277G>C)
c.1383C>G (p.Leu461=)
17g.4934065C>TCA497678276CHRNE,GP1BAc.1461C>T (p.Leu487=)
c.-888+277G>A (n.-888+277G>A)
c.1383C>T (p.Leu461=)
17g.4934066T>ACA397321963CHRNE,GP1BAc.1462T>A (p.Leu488Ile)
c.-888+276A>T (n.-888+276A>T)
c.1384T>A (p.Leu462Ile)
17g.4934066T>CCA497678277CHRNE,GP1BAc.1462T>C (p.Leu488=)
c.-888+276A>G (n.-888+276A>G)
c.1384T>C (p.Leu462=)
17g.4934066T>GCA287217628CHRNE,GP1BAc.1462T>G (p.Leu488Val)
c.-888+276A>C (n.-888+276A>C)
c.1384T>G (p.Leu462Val)
 dbSNP
17g.4934066T=CA2244625954CHRNE,GP1BAc.1462T= (p.Leu488=)
c.-888+276A= (n.-888+276A=)
c.1384T= (p.Leu462=)
17g.4934067T>ACA397321966CHRNE,GP1BAc.1463T>A (p.Leu488Ter)
c.-888+275A>T (n.-888+275A>T)
c.1385T>A (p.Leu462Ter)
17g.4934067T>CCA8315003CHRNE,GP1BAc.1463T>C (p.Leu488Ser)
c.-888+275A>G (n.-888+275A>G)
c.1385T>C (p.Leu462Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934067T>GCA397321969CHRNE,GP1BAc.1463T>G (p.Leu488Ter)
c.-888+275A>C (n.-888+275A>C)
c.1385T>G (p.Leu462Ter)
17g.4934067T=CA2244625955CHRNE,GP1BAc.1463T= (p.Leu488=)
c.-888+275A= (n.-888+275A=)
c.1385T= (p.Leu462=)
17g.4934068A>CCA397321970CHRNE,GP1BAc.1464A>C (p.Leu488Phe)
c.-888+274T>G (n.-888+274T>G)
c.1386A>C (p.Leu462Phe)
17g.4934068A>GCA497678280CHRNE,GP1BAc.1464A>G (p.Leu488=)
c.-888+274T>C (n.-888+274T>C)
c.1386A>G (p.Leu462=)
17g.4934068A>TCA397321972CHRNE,GP1BAc.1464A>T (p.Leu488Phe)
c.-888+274T>A (n.-888+274T>A)
c.1386A>T (p.Leu462Phe)
17g.4934069delCA2695224153CHRNE,GP1BAc.1465del (p.Glu489AsnfsTer?)
c.-888+273del (n.-888+273del)
c.1387del (p.Glu463AsnfsTer?)
17g.4934069G>ACA397321974CHRNE,GP1BAc.1465G>A (p.Glu489Lys)
c.-888+273C>T (n.-888+273C>T)
c.1387G>A (p.Glu463Lys)
17g.4934069G>CCA397321976CHRNE,GP1BAc.1465G>C (p.Glu489Gln)
c.-888+273C>G (n.-888+273C>G)
c.1387G>C (p.Glu463Gln)
17g.4934069G>TCA397321978CHRNE,GP1BAc.1465G>T (p.Glu489Ter)
c.-888+273C>A (n.-888+273C>A)
c.1387G>T (p.Glu463Ter)
17g.4934070A>CCA397321983CHRNE,GP1BAc.1466A>C (p.Glu489Ala)
c.-888+272T>G (n.-888+272T>G)
c.1388A>C (p.Glu463Ala)
17g.4934070A>GCA397321980CHRNE,GP1BAc.1466A>G (p.Glu489Gly)
c.-888+272T>C (n.-888+272T>C)
c.1388A>G (p.Glu463Gly)
17g.4934070A>TCA397321981CHRNE,GP1BAc.1466A>T (p.Glu489Val)
c.-888+272T>A (n.-888+272T>A)
c.1388A>T (p.Glu463Val)
17g.4934071A>CCA397321985CHRNE,GP1BAc.1467A>C (p.Glu489Asp)
c.-888+271T>G (n.-888+271T>G)
c.1389A>C (p.Glu463Asp)
17g.4934071A>GCA497678282CHRNE,GP1BAc.1467A>G (p.Glu489=)
c.-888+271T>C (n.-888+271T>C)
c.1389A>G (p.Glu463=)
17g.4934071A>TCA397321987CHRNE,GP1BAc.1467A>T (p.Glu489Asp)
c.-888+271T>A (n.-888+271T>A)
c.1389A>T (p.Glu463Asp)
17g.4934072T>ACA397321989CHRNE,GP1BAc.1468T>A (p.Ser490Thr)
c.-888+270A>T (n.-888+270A>T)
c.1390T>A (p.Ser464Thr)
17g.4934072T>CCA397321991CHRNE,GP1BAc.1468T>C (p.Ser490Pro)
c.-888+270A>G (n.-888+270A>G)
c.1390T>C (p.Ser464Pro)
17g.4934072T>GCA397321992CHRNE,GP1BAc.1468T>G (p.Ser490Ala)
c.-888+270A>C (n.-888+270A>C)
c.1390T>G (p.Ser464Ala)
17g.4934073C>ACA397321993CHRNE,GP1BAc.1469C>A (p.Ser490Tyr)
c.-888+269G>T (n.-888+269G>T)
c.1391C>A (p.Ser464Tyr)
17g.4934073C>GCA397321994CHRNE,GP1BAc.1469C>G (p.Ser490Cys)
c.-888+269G>C (n.-888+269G>C)
c.1391C>G (p.Ser464Cys)
17g.4934073C>TCA397321995CHRNE,GP1BAc.1469C>T (p.Ser490Phe)
c.-888+269G>A (n.-888+269G>A)
c.1391C>T (p.Ser464Phe)
17g.4934074C>ACA497678287CHRNE,GP1BAc.1470C>A (p.Ser490=)
c.-888+268G>T (n.-888+268G>T)
c.1392C>A (p.Ser464=)
17g.4934074C=CA2244625956CHRNE,GP1BAc.1470C= (p.Ser490=)
c.-888+268G= (n.-888+268G=)
c.1392C= (p.Ser464=)
17g.4934074C>GCA497678289CHRNE,GP1BAc.1470C>G (p.Ser490=)
c.-888+268G>C (n.-888+268G>C)
c.1392C>G (p.Ser464=)
17g.4934074C>TCA8315004CHRNE,GP1BAc.1470C>T (p.Ser490=)
c.-888+268G>A (n.-888+268G>A)
c.1392C>T (p.Ser464=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4934075A>CCA397321996CHRNE,GP1BAc.1471A>C (p.Thr491Pro)
c.-888+267T>G (n.-888+267T>G)
c.1393A>C (p.Thr465Pro)
 gnomAD v4
17g.4934075A>GCA397321997CHRNE,GP1BAc.1471A>G (p.Thr491Ala)
c.-888+267T>C (n.-888+267T>C)
c.1393A>G (p.Thr465Ala)
17g.4934075A>TCA397321998CHRNE,GP1BAc.1471A>T (p.Thr491Ser)
c.-888+267T>A (n.-888+267T>A)
c.1393A>T (p.Thr465Ser)
17g.4934076C>ACA397322000CHRNE,GP1BAc.1472C>A (p.Thr491Asn)
c.-888+266G>T (n.-888+266G>T)
c.1394C>A (p.Thr465Asn)
17g.4934076C>GCA397322001CHRNE,GP1BAc.1472C>G (p.Thr491Ser)
c.-888+266G>C (n.-888+266G>C)
c.1394C>G (p.Thr465Ser)
17g.4934076C>TCA397321999CHRNE,GP1BAc.1472C>T (p.Thr491Ile)
c.-888+266G>A (n.-888+266G>A)
c.1394C>T (p.Thr465Ile)
17g.4934077C>ACA497678291CHRNE,GP1BAc.1473C>A (p.Thr491=)
c.-888+265G>T (n.-888+265G>T)
c.1395C>A (p.Thr465=)
17g.4934077C>GCA497678292CHRNE,GP1BAc.1473C>G (p.Thr491=)
c.-888+265G>C (n.-888+265G>C)
c.1395C>G (p.Thr465=)
17g.4934077C>TCA497678294CHRNE,GP1BAc.1473C>T (p.Thr491=)
c.-888+265G>A (n.-888+265G>A)
c.1395C>T (p.Thr465=)
17g.4934077_4934078delinsCACA2244625957CHRNE,GP1BAc.1473_1474delinsCA (p.Thr491=)
c.-888+264_-888+265delinsTG (n.-888+264_-888+265delinsTG)
c.1395_1396delinsCA (p.Thr465=)
17g.4934078A>CCA397322003CHRNE,GP1BAc.1474A>C (p.Lys492Gln)
c.-888+264T>G (n.-888+264T>G)
c.1396A>C (p.Lys466Gln)
17g.4934078A>GCA397322004CHRNE,GP1BAc.1474A>G (p.Lys492Glu)
c.-888+264T>C (n.-888+264T>C)
c.1396A>G (p.Lys466Glu)
17g.4934078A>TCA397322002CHRNE,GP1BAc.1474A>T (p.Lys492Ter)
c.-888+264T>A (n.-888+264T>A)
c.1396A>T (p.Lys466Ter)
17g.4934084dupCA8315006CHRNE,GP1BAc.1480dup (p.Thr494AsnfsTer4)
c.-888+264dup (n.-888+264dup)
c.1402dup (p.Thr468AsnfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4934083_4934084dupCA1139650722CHRNE,GP1BAc.1479_1480dup (p.Thr494LysfsTer?)
c.-888+263_-888+264dup (n.-888+263_-888+264dup)
c.1401_1402dup (p.Thr468LysfsTer?)
17g.4934084delCA8315005CHRNE,GP1BAc.1480del (p.Thr494ProfsTer?)
c.-888+264del (n.-888+264del)
c.1402del (p.Thr468ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4934079A>CCA397322007CHRNE,GP1BAc.1475A>C (p.Lys492Thr)
c.-888+263T>G (n.-888+263T>G)
c.1397A>C (p.Lys466Thr)
17g.4934079A>GCA397322005CHRNE,GP1BAc.1475A>G (p.Lys492Arg)
c.-888+263T>C (n.-888+263T>C)
c.1397A>G (p.Lys466Arg)
17g.4934079A>TCA397322006CHRNE,GP1BAc.1475A>T (p.Lys492Ile)
c.-888+263T>A (n.-888+263T>A)
c.1397A>T (p.Lys466Ile)
17g.4934080A>CCA397322008CHRNE,GP1BAc.1476A>C (p.Lys492Asn)
c.-888+262T>G (n.-888+262T>G)
c.1398A>C (p.Lys466Asn)
17g.4934080A>GCA497678304CHRNE,GP1BAc.1476A>G (p.Lys492=)
c.-888+262T>C (n.-888+262T>C)
c.1398A>G (p.Lys466=)
17g.4934080A>TCA397322009CHRNE,GP1BAc.1476A>T (p.Lys492Asn)
c.-888+262T>A (n.-888+262T>A)
c.1398A>T (p.Lys466Asn)
17g.4934081A>CCA397322010CHRNE,GP1BAc.1477A>C (p.Lys493Gln)
c.-888+261T>G (n.-888+261T>G)
c.1399A>C (p.Lys467Gln)
17g.4934081A>GCA397322011CHRNE,GP1BAc.1477A>G (p.Lys493Glu)
c.-888+261T>C (n.-888+261T>C)
c.1399A>G (p.Lys467Glu)
17g.4934081A>TCA397322012CHRNE,GP1BAc.1477A>T (p.Lys493Ter)
c.-888+261T>A (n.-888+261T>A)
c.1399A>T (p.Lys467Ter)
17g.4934082A>CCA397322013CHRNE,GP1BAc.1478A>C (p.Lys493Thr)
c.-888+260T>G (n.-888+260T>G)
c.1400A>C (p.Lys467Thr)
17g.4934082A>GCA397322014CHRNE,GP1BAc.1478A>G (p.Lys493Arg)
c.-888+260T>C (n.-888+260T>C)
c.1400A>G (p.Lys467Arg)
 gnomAD v4
17g.4934082A>TCA397322015CHRNE,GP1BAc.1478A>T (p.Lys493Ile)
c.-888+260T>A (n.-888+260T>A)
c.1400A>T (p.Lys467Ile)
17g.4934083A>CCA397322016CHRNE,GP1BAc.1479A>C (p.Lys493Asn)
c.-888+259T>G (n.-888+259T>G)
c.1401A>C (p.Lys467Asn)
 gnomAD v4
17g.4934083A>GCA497678309CHRNE,GP1BAc.1479A>G (p.Lys493=)
c.-888+259T>C (n.-888+259T>C)
c.1401A>G (p.Lys467=)
17g.4934083A>TCA397322017CHRNE,GP1BAc.1479A>T (p.Lys493Asn)
c.-888+259T>A (n.-888+259T>A)
c.1401A>T (p.Lys467Asn)
17g.4934084A>CCA397322018CHRNE,GP1BAc.1480A>C (p.Thr494Pro)
c.-888+258T>G (n.-888+258T>G)
c.1402A>C (p.Thr468Pro)
17g.4934084A>GCA397322020CHRNE,GP1BAc.1480A>G (p.Thr494Ala)
c.-888+258T>C (n.-888+258T>C)
c.1402A>G (p.Thr468Ala)
17g.4934084A>TCA397322019CHRNE,GP1BAc.1480A>T (p.Thr494Ser)
c.-888+258T>A (n.-888+258T>A)
c.1402A>T (p.Thr468Ser)

Number of alleles fetched