Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933751_4933934delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCA2244625701CHRNE,GP1BAc.1147_1330delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Thr383=)
c.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT (n.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT)
c.1147_1273-21delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG
17g.4933756_4933938delCA980971795CHRNE,GP1BAc.1152_1334del (p.Ser385_Pro445del)
c.-888+408_-888+590del (n.-888+408_-888+590del)
c.1152_1273-17del
 dbSNP gnomAD v3 gnomAD v4
17g.4933753_4933819delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCA2244625703CHRNE,GP1BAc.1149_1215delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT (p.Thr383=)
c.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG (n.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG)
17g.4933769_4933834delCA624856137CHRNE,GP1BAc.1165_1230del (p.Ser389_Thr410del)
c.-888+523_-888+588del (n.-888+523_-888+588del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933763A>CCA397320305CHRNE,GP1BAc.1159A>C (p.Thr387Pro)
c.-888+579T>G (n.-888+579T>G)
17g.4933763A>GCA397320307CHRNE,GP1BAc.1159A>G (p.Thr387Ala)
c.-888+579T>C (n.-888+579T>C)
17g.4933763A>TCA397320310CHRNE,GP1BAc.1159A>T (p.Thr387Ser)
c.-888+579T>A (n.-888+579T>A)
17g.4933763_4933919delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCA2244625710CHRNE,GP1BAc.1159_1315delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC (p.Thr387=)
c.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT (n.-888+423_-888+579delinsGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGT)
c.1159_1273-36delinsACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGC
17g.4933764C>ACA397320316CHRNE,GP1BAc.1160C>A (p.Thr387Asn)
c.-888+578G>T (n.-888+578G>T)
17g.4933764C>GCA397320319CHRNE,GP1BAc.1160C>G (p.Thr387Ser)
c.-888+578G>C (n.-888+578G>C)
 gnomAD v4
17g.4933764C>TCA397320317CHRNE,GP1BAc.1160C>T (p.Thr387Ile)
c.-888+578G>A (n.-888+578G>A)
 gnomAD v4
17g.4933779_4933934delCA980971820CHRNE,GP1BAc.1175_1330del (p.Val392_Pro443del)
c.-888+423_-888+578del (n.-888+423_-888+578del)
c.1175_1273-21del
 dbSNP gnomAD v3 gnomAD v4
17g.4933765C>ACA497677718CHRNE,GP1BAc.1161C>A (p.Thr387=)
c.-888+577G>T (n.-888+577G>T)
17g.4933765C=CA2244625711CHRNE,GP1BAc.1161C= (p.Thr387=)
c.-888+577G= (n.-888+577G=)
17g.4933765C>GCA497677717CHRNE,GP1BAc.1161C>G (p.Thr387=)
c.-888+577G>C (n.-888+577G>C)
17g.4933765C>TCA8314912CHRNE,GP1BAc.1161C>T (p.Thr387=)
c.-888+577G>A (n.-888+577G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933766A>CCA397320320CHRNE,GP1BAc.1162A>C (p.Thr388Pro)
c.-888+576T>G (n.-888+576T>G)
 gnomAD v4
17g.4933766A>GCA397320321CHRNE,GP1BAc.1162A>G (p.Thr388Ala)
c.-888+576T>C (n.-888+576T>C)
17g.4933766A>TCA397320322CHRNE,GP1BAc.1162A>T (p.Thr388Ser)
c.-888+576T>A (n.-888+576T>A)
17g.4933767C>ACA397320323CHRNE,GP1BAc.1163C>A (p.Thr388Asn)
c.-888+575G>T (n.-888+575G>T)
17g.4933767C>GCA397320324CHRNE,GP1BAc.1163C>G (p.Thr388Ser)
c.-888+575G>C (n.-888+575G>C)
17g.4933767C>TCA397320326CHRNE,GP1BAc.1163C>T (p.Thr388Ile)
c.-888+575G>A (n.-888+575G>A)
17g.4933768C>ACA497677721CHRNE,GP1BAc.1164C>A (p.Thr388=)
c.-888+574G>T (n.-888+574G>T)
17g.4933768C>GCA497677720CHRNE,GP1BAc.1164C>G (p.Thr388=)
c.-888+574G>C (n.-888+574G>C)
17g.4933768C>TCA497677719CHRNE,GP1BAc.1164C>T (p.Thr388=)
c.-888+574G>A (n.-888+574G>A)
 gnomAD v4
17g.4933769T>ACA8314913CHRNE,GP1BAc.1165T>A (p.Ser389Thr)
c.-888+573A>T (n.-888+573A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933769T>CCA287217014CHRNE,GP1BAc.1165T>C (p.Ser389Pro)
c.-888+573A>G (n.-888+573A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4933769T>GCA8314914CHRNE,GP1BAc.1165T>G (p.Ser389Ala)
c.-888+573A>C (n.-888+573A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933769T=CA2244625712CHRNE,GP1BAc.1165T= (p.Ser389=)
c.-888+573A= (n.-888+573A=)
17g.4933770C>ACA397320333CHRNE,GP1BAc.1166C>A (p.Ser389Ter)
c.-888+572G>T (n.-888+572G>T)
17g.4933770C>GCA397320335CHRNE,GP1BAc.1166C>G (p.Ser389Ter)
c.-888+572G>C (n.-888+572G>C)
17g.4933770C>TCA397320337CHRNE,GP1BAc.1166C>T (p.Ser389Leu)
c.-888+572G>A (n.-888+572G>A)
17g.4933771A>CCA497677722CHRNE,GP1BAc.1167A>C (p.Ser389=)
c.-888+571T>G (n.-888+571T>G)
17g.4933771A>GCA497677724CHRNE,GP1BAc.1167A>G (p.Ser389=)
c.-888+571T>C (n.-888+571T>C)
17g.4933771A>TCA497677723CHRNE,GP1BAc.1167A>T (p.Ser389=)
c.-888+571T>A (n.-888+571T>A)
17g.4933772G>ACA397320343CHRNE,GP1BAc.1168G>A (p.Glu390Lys)
c.-888+570C>T (n.-888+570C>T)
 gnomAD v4
17g.4933772G>CCA397320338CHRNE,GP1BAc.1168G>C (p.Glu390Gln)
c.-888+570C>G (n.-888+570C>G)
17g.4933772G>TCA397320340CHRNE,GP1BAc.1168G>T (p.Glu390Ter)
c.-888+570C>A (n.-888+570C>A)
17g.4933773A>CCA397320344CHRNE,GP1BAc.1169A>C (p.Glu390Ala)
c.-888+569T>G (n.-888+569T>G)
17g.4933773A>GCA397320345CHRNE,GP1BAc.1169A>G (p.Glu390Gly)
c.-888+569T>C (n.-888+569T>C)
17g.4933773A>TCA397320348CHRNE,GP1BAc.1169A>T (p.Glu390Val)
c.-888+569T>A (n.-888+569T>A)
17g.4933774G>ACA497677725CHRNE,GP1BAc.1170G>A (p.Glu390=)
c.-888+568C>T (n.-888+568C>T)
17g.4933774G>CCA397320351CHRNE,GP1BAc.1170G>C (p.Glu390Asp)
c.-888+568C>G (n.-888+568C>G)
17g.4933774G>TCA397320353CHRNE,GP1BAc.1170G>T (p.Glu390Asp)
c.-888+568C>A (n.-888+568C>A)
17g.4933775C>ACA397320356CHRNE,GP1BAc.1171C>A (p.Pro391Thr)
c.-888+567G>T (n.-888+567G>T)
 dbSNP gnomAD v4
17g.4933775C=CA2244625713CHRNE,GP1BAc.1171C= (p.Pro391=)
c.-888+567G= (n.-888+567G=)
17g.4933775C>GCA397320358CHRNE,GP1BAc.1171C>G (p.Pro391Ala)
c.-888+567G>C (n.-888+567G>C)
17g.4933775C>TCA8314915CHRNE,GP1BAc.1171C>T (p.Pro391Ser)
c.-888+567G>A (n.-888+567G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933776C>ACA397320363CHRNE,GP1BAc.1172C>A (p.Pro391His)
c.-888+566G>T (n.-888+566G>T)
17g.4933776C>GCA397320366CHRNE,GP1BAc.1172C>G (p.Pro391Arg)
c.-888+566G>C (n.-888+566G>C)
17g.4933776C>TCA397320368CHRNE,GP1BAc.1172C>T (p.Pro391Leu)
c.-888+566G>A (n.-888+566G>A)
 gnomAD v4
17g.4933777C>ACA497677726CHRNE,GP1BAc.1173C>A (p.Pro391=)
c.-888+565G>T (n.-888+565G>T)
17g.4933777C=CA2244625714CHRNE,GP1BAc.1173C= (p.Pro391=)
c.-888+565G= (n.-888+565G=)
17g.4933777C>GCA287217041CHRNE,GP1BAc.1173C>G (p.Pro391=)
c.-888+565G>C (n.-888+565G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.4933777C>TCA8314916CHRNE,GP1BAc.1173C>T (p.Pro391=)
c.-888+565G>A (n.-888+565G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933778G>ACA287217045CHRNE,GP1BAc.1174G>A (p.Val392Ile)
c.-888+564C>T (n.-888+564C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933778G>CCA397320376CHRNE,GP1BAc.1174G>C (p.Val392Leu)
c.-888+564C>G (n.-888+564C>G)
17g.4933778G=CA2244625715CHRNE,GP1BAc.1174G= (p.Val392=)
c.-888+564C= (n.-888+564C=)
17g.4933778G>TCA397320374CHRNE,GP1BAc.1174G>T (p.Val392Phe)
c.-888+564C>A (n.-888+564C>A)
 gnomAD v4
17g.4933779T>ACA397320378CHRNE,GP1BAc.1175T>A (p.Val392Asp)
c.-888+563A>T (n.-888+563A>T)
17g.4933779T>CCA397320382CHRNE,GP1BAc.1175T>C (p.Val392Ala)
c.-888+563A>G (n.-888+563A>G)
 gnomAD v3 gnomAD v4
17g.4933779T>GCA397320380CHRNE,GP1BAc.1175T>G (p.Val392Gly)
c.-888+563A>C (n.-888+563A>C)
 gnomAD v4
17g.4933780C>ACA497677727CHRNE,GP1BAc.1176C>A (p.Val392=)
c.-888+562G>T (n.-888+562G>T)
17g.4933780C>GCA497677728CHRNE,GP1BAc.1176C>G (p.Val392=)
c.-888+562G>C (n.-888+562G>C)
 gnomAD v4
17g.4933780C>TCA497677729CHRNE,GP1BAc.1176C>T (p.Val392=)
c.-888+562G>A (n.-888+562G>A)
 gnomAD v4
17g.4933781C>ACA397320384CHRNE,GP1BAc.1177C>A (p.Pro393Thr)
c.-888+561G>T (n.-888+561G>T)
17g.4933781C>GCA397320385CHRNE,GP1BAc.1177C>G (p.Pro393Ala)
c.-888+561G>C (n.-888+561G>C)
17g.4933781C>TCA397320386CHRNE,GP1BAc.1177C>T (p.Pro393Ser)
c.-888+561G>A (n.-888+561G>A)
 gnomAD v3 gnomAD v4
17g.4933782C>ACA397320387CHRNE,GP1BAc.1178C>A (p.Pro393Gln)
c.-888+560G>T (n.-888+560G>T)
17g.4933782C=CA2244625716CHRNE,GP1BAc.1178C= (p.Pro393=)
c.-888+560G= (n.-888+560G=)
17g.4933782C>GCA397320388CHRNE,GP1BAc.1178C>G (p.Pro393Arg)
c.-888+560G>C (n.-888+560G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933782C>TCA8314917CHRNE,GP1BAc.1178C>T (p.Pro393Leu)
c.-888+560G>A (n.-888+560G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933783G>ACA8314918CHRNE,GP1BAc.1179G>A (p.Pro393=)
c.-888+559C>T (n.-888+559C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933783G>CCA497677730CHRNE,GP1BAc.1179G>C (p.Pro393=)
c.-888+559C>G (n.-888+559C>G)
17g.4933783G=CA2244625717CHRNE,GP1BAc.1179G= (p.Pro393=)
c.-888+559C= (n.-888+559C=)
17g.4933783G>TCA497677731CHRNE,GP1BAc.1179G>T (p.Pro393=)
c.-888+559C>A (n.-888+559C>A)
17g.4933784G>ACA397320389CHRNE,GP1BAc.1180G>A (p.Glu394Lys)
c.-888+558C>T (n.-888+558C>T)
17g.4933784G>CCA397320390CHRNE,GP1BAc.1180G>C (p.Glu394Gln)
c.-888+558C>G (n.-888+558C>G)
17g.4933784G>TCA397320391CHRNE,GP1BAc.1180G>T (p.Glu394Ter)
c.-888+558C>A (n.-888+558C>A)
17g.4933795_4933860delCA2635579011CHRNE,GP1BAc.1191_1256del (p.Asn398_Pro419del)
c.-888+493_-888+558del (n.-888+493_-888+558del)
 gnomAD v4
17g.4933785A>CCA397320396CHRNE,GP1BAc.1181A>C (p.Glu394Ala)
c.-888+557T>G (n.-888+557T>G)
17g.4933785A>GCA397320395CHRNE,GP1BAc.1181A>G (p.Glu394Gly)
c.-888+557T>C (n.-888+557T>C)
17g.4933785A>TCA397320393CHRNE,GP1BAc.1181A>T (p.Glu394Val)
c.-888+557T>A (n.-888+557T>A)
 gnomAD v4
17g.4933786G>ACA497677732CHRNE,GP1BAc.1182G>A (p.Glu394=)
c.-888+556C>T (n.-888+556C>T)
 gnomAD v4
17g.4933786G>CCA397320398CHRNE,GP1BAc.1182G>C (p.Glu394Asp)
c.-888+556C>G (n.-888+556C>G)
17g.4933786G=CA2244625718CHRNE,GP1BAc.1182G= (p.Glu394=)
c.-888+556C= (n.-888+556C=)
17g.4933786G>TCA397320400CHRNE,GP1BAc.1182G>T (p.Glu394Asp)
c.-888+556C>A (n.-888+556C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933787C>ACA397320402CHRNE,GP1BAc.1183C>A (p.Pro395Thr)
c.-888+555G>T (n.-888+555G>T)
 dbSNP
17g.4933787C=CA2244625719CHRNE,GP1BAc.1183C= (p.Pro395=)
c.-888+555G= (n.-888+555G=)
17g.4933787C>GCA397320404CHRNE,GP1BAc.1183C>G (p.Pro395Ala)
c.-888+555G>C (n.-888+555G>C)
17g.4933787C>TCA8314919CHRNE,GP1BAc.1183C>T (p.Pro395Ser)
c.-888+555G>A (n.-888+555G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933788C>ACA397320407CHRNE,GP1BAc.1184C>A (p.Pro395His)
c.-888+554G>T (n.-888+554G>T)
17g.4933788C>GCA397320409CHRNE,GP1BAc.1184C>G (p.Pro395Arg)
c.-888+554G>C (n.-888+554G>C)
17g.4933788C>TCA397320411CHRNE,GP1BAc.1184C>T (p.Pro395Leu)
c.-888+554G>A (n.-888+554G>A)
17g.4933789C>ACA497677734CHRNE,GP1BAc.1185C>A (p.Pro395=)
c.-888+553G>T (n.-888+553G>T)
17g.4933789C=CA2244625720CHRNE,GP1BAc.1185C= (p.Pro395=)
c.-888+553G= (n.-888+553G=)
17g.4933789C>GCA497677733CHRNE,GP1BAc.1185C>G (p.Pro395=)
c.-888+553G>C (n.-888+553G>C)
17g.4933789C>TCA287217077CHRNE,GP1BAc.1185C>T (p.Pro395=)
c.-888+553G>A (n.-888+553G>A)
 ClinVar dbSNP gnomAD v4
17g.4933790G>ACA8314920CHRNE,GP1BAc.1186G>A (p.Ala396Thr)
c.-888+552C>T (n.-888+552C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933790G>CCA397320414CHRNE,GP1BAc.1186G>C (p.Ala396Pro)
c.-888+552C>G (n.-888+552C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4933790G=CA2244625721CHRNE,GP1BAc.1186G= (p.Ala396=)
c.-888+552C= (n.-888+552C=)
17g.4933790G>TCA397320416CHRNE,GP1BAc.1186G>T (p.Ala396Ser)
c.-888+552C>A (n.-888+552C>A)
17g.4933791C>ACA397320419CHRNE,GP1BAc.1187C>A (p.Ala396Asp)
c.-888+551G>T (n.-888+551G>T)
17g.4933791C>GCA397320421CHRNE,GP1BAc.1187C>G (p.Ala396Gly)
c.-888+551G>C (n.-888+551G>C)
17g.4933791C>TCA397320418CHRNE,GP1BAc.1187C>T (p.Ala396Val)
c.-888+551G>A (n.-888+551G>A)
17g.4933792C>ACA497677735CHRNE,GP1BAc.1188C>A (p.Ala396=)
c.-888+550G>T (n.-888+550G>T)
17g.4933792C>GCA497677737CHRNE,GP1BAc.1188C>G (p.Ala396=)
c.-888+550G>C (n.-888+550G>C)
17g.4933792C>TCA497677736CHRNE,GP1BAc.1188C>T (p.Ala396=)
c.-888+550G>A (n.-888+550G>A)
 gnomAD v4
17g.4933793C>ACA397320423CHRNE,GP1BAc.1189C>A (p.Pro397Thr)
c.-888+549G>T (n.-888+549G>T)
17g.4933793C>GCA397320425CHRNE,GP1BAc.1189C>G (p.Pro397Ala)
c.-888+549G>C (n.-888+549G>C)
17g.4933793C>TCA397320426CHRNE,GP1BAc.1189C>T (p.Pro397Ser)
c.-888+549G>A (n.-888+549G>A)
 gnomAD v4
17g.4933797_4933823delCA2635579012CHRNE,GP1BAc.1193_1219del (p.Asn398_Pro406del)
c.-888+523_-888+549del (n.-888+523_-888+549del)
 gnomAD v4
17g.4933794C>ACA397320428CHRNE,GP1BAc.1190C>A (p.Pro397Gln)
c.-888+548G>T (n.-888+548G>T)
17g.4933794C=CA2244625722CHRNE,GP1BAc.1190C= (p.Pro397=)
c.-888+548G= (n.-888+548G=)
17g.4933794C>GCA397320430CHRNE,GP1BAc.1190C>G (p.Pro397Arg)
c.-888+548G>C (n.-888+548G>C)
17g.4933794C>TCA8314921CHRNE,GP1BAc.1190C>T (p.Pro397Leu)
c.-888+548G>A (n.-888+548G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933795A>CCA497677738CHRNE,GP1BAc.1191A>C (p.Pro397=)
c.-888+547T>G (n.-888+547T>G)
 gnomAD v4
17g.4933795A>GCA497677739CHRNE,GP1BAc.1191A>G (p.Pro397=)
c.-888+547T>C (n.-888+547T>C)
17g.4933795A>TCA497677740CHRNE,GP1BAc.1191A>T (p.Pro397=)
c.-888+547T>A (n.-888+547T>A)
17g.4933795_4933797delCA2635579014CHRNE,GP1BAc.1191_1193del (p.Asn398del)
c.-888+545_-888+547del (n.-888+545_-888+547del)
 gnomAD v4
17g.4933796A=CA2244625723CHRNE,GP1BAc.1192A= (p.Asn398=)
c.-888+546T= (n.-888+546T=)
17g.4933796A>CCA397320437CHRNE,GP1BAc.1192A>C (p.Asn398His)
c.-888+546T>G (n.-888+546T>G)
17g.4933796A>GCA397320434CHRNE,GP1BAc.1192A>G (p.Asn398Asp)
c.-888+546T>C (n.-888+546T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933796A>TCA397320435CHRNE,GP1BAc.1192A>T (p.Asn398Tyr)
c.-888+546T>A (n.-888+546T>A)
17g.4933797A>CCA397320438CHRNE,GP1BAc.1193A>C (p.Asn398Thr)
c.-888+545T>G (n.-888+545T>G)
17g.4933797A>GCA397320439CHRNE,GP1BAc.1193A>G (p.Asn398Ser)
c.-888+545T>C (n.-888+545T>C)
 gnomAD v4
17g.4933797A>TCA397320441CHRNE,GP1BAc.1193A>T (p.Asn398Ile)
c.-888+545T>A (n.-888+545T>A)
 gnomAD v3 gnomAD v4
17g.4933798C>ACA397320443CHRNE,GP1BAc.1194C>A (p.Asn398Lys)
c.-888+544G>T (n.-888+544G>T)
17g.4933798C=CA2244625724CHRNE,GP1BAc.1194C= (p.Asn398=)
c.-888+544G= (n.-888+544G=)
17g.4933798C>GCA397320444CHRNE,GP1BAc.1194C>G (p.Asn398Lys)
c.-888+544G>C (n.-888+544G>C)
17g.4933798C>TCA497677741CHRNE,GP1BAc.1194C>T (p.Asn398=)
c.-888+544G>A (n.-888+544G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933799A=CA2244625725CHRNE,GP1BAc.1195A= (p.Met399=)
c.-888+543T= (n.-888+543T=)
17g.4933799A>CCA397320445CHRNE,GP1BAc.1195A>C (p.Met399Leu)
c.-888+543T>G (n.-888+543T>G)
 gnomAD v3 gnomAD v4
17g.4933799A>GCA397320447CHRNE,GP1BAc.1195A>G (p.Met399Val)
c.-888+543T>C (n.-888+543T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.4933799A>TCA397320446CHRNE,GP1BAc.1195A>T (p.Met399Leu)
c.-888+543T>A (n.-888+543T>A)
17g.4933800_4933823delCA2635579016CHRNE,GP1BAc.1196_1219del (p.Met399_Pro406del)
c.-888+520_-888+543del (n.-888+520_-888+543del)
 gnomAD v4
17g.4933800T>ACA397320449CHRNE,GP1BAc.1196T>A (p.Met399Lys)
c.-888+542A>T (n.-888+542A>T)
17g.4933800T>CCA397320451CHRNE,GP1BAc.1196T>C (p.Met399Thr)
c.-888+542A>G (n.-888+542A>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.4933800T>GCA397320453CHRNE,GP1BAc.1196T>G (p.Met399Arg)
c.-888+542A>C (n.-888+542A>C)
17g.4933800T=CA2244625727CHRNE,GP1BAc.1196T= (p.Met399=)
c.-888+542A= (n.-888+542A=)
17g.4933800_4933803delCA2808297125CHRNE,GP1BAc.1196_1199del (p.Met399ThrfsTer?)
c.-888+539_-888+542del (n.-888+539_-888+542del)
17g.4933800_4933827delinsTGACCACCCTGGAGCCCACTCCAAGCCCCA2244625726CHRNE,GP1BAc.1196_1223delinsTGACCACCCTGGAGCCCACTCCAAGCCC (p.Met399=)
c.-888+515_-888+542delinsGGGCTTGGAGTGGGCTCCAGGGTGGTCA (n.-888+515_-888+542delinsGGGCTTGGAGTGGGCTCCAGGGTGGTCA)
17g.4933801G>ACA397320455CHRNE,GP1BAc.1197G>A (p.Met399Ile)
c.-888+541C>T (n.-888+541C>T)
 gnomAD v4
17g.4933801G>CCA287217083CHRNE,GP1BAc.1197G>C (p.Met399Ile)
c.-888+541C>G (n.-888+541C>G)
 dbSNP gnomAD v4
17g.4933801G=CA2244625728CHRNE,GP1BAc.1197G= (p.Met399=)
c.-888+541C= (n.-888+541C=)
17g.4933801G>TCA397320457CHRNE,GP1BAc.1197G>T (p.Met399Ile)
c.-888+541C>A (n.-888+541C>A)
17g.4933809_4933835delCA624856138CHRNE,GP1BAc.1205_1231del (p.Leu402_Thr410del)
c.-888+515_-888+541del (n.-888+515_-888+541del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933809_4933952delCA980971848CHRNE,GP1BAc.1205_1348del (p.Leu402_Thr449del)
c.-888+398_-888+541del (n.-888+398_-888+541del)
c.1205_1273-3del
 gnomAD v3 gnomAD v4
17g.4933802A>CCA397320459CHRNE,GP1BAc.1198A>C (p.Thr400Pro)
c.-888+540T>G (n.-888+540T>G)
17g.4933802A>GCA397320461CHRNE,GP1BAc.1198A>G (p.Thr400Ala)
c.-888+540T>C (n.-888+540T>C)
17g.4933802A>TCA397320463CHRNE,GP1BAc.1198A>T (p.Thr400Ser)
c.-888+540T>A (n.-888+540T>A)
17g.4933803C>ACA397320464CHRNE,GP1BAc.1199C>A (p.Thr400Asn)
c.-888+539G>T (n.-888+539G>T)
17g.4933803C>GCA397320466CHRNE,GP1BAc.1199C>G (p.Thr400Ser)
c.-888+539G>C (n.-888+539G>C)
17g.4933803C>TCA397320467CHRNE,GP1BAc.1199C>T (p.Thr400Ile)
c.-888+539G>A (n.-888+539G>A)
17g.4933804C>ACA497677745CHRNE,GP1BAc.1200C>A (p.Thr400=)
c.-888+538G>T (n.-888+538G>T)
17g.4933804C>GCA497677746CHRNE,GP1BAc.1200C>G (p.Thr400=)
c.-888+538G>C (n.-888+538G>C)
17g.4933804C>TCA497677747CHRNE,GP1BAc.1200C>T (p.Thr400=)
c.-888+538G>A (n.-888+538G>A)
17g.4933805A>CCA397320470CHRNE,GP1BAc.1201A>C (p.Thr401Pro)
c.-888+537T>G (n.-888+537T>G)
17g.4933805A>GCA397320471CHRNE,GP1BAc.1201A>G (p.Thr401Ala)
c.-888+537T>C (n.-888+537T>C)
17g.4933805A>TCA397320469CHRNE,GP1BAc.1201A>T (p.Thr401Ser)
c.-888+537T>A (n.-888+537T>A)
17g.4933806C>ACA397320473CHRNE,GP1BAc.1202C>A (p.Thr401Asn)
c.-888+536G>T (n.-888+536G>T)
17g.4933806C=CA2244625729CHRNE,GP1BAc.1202C= (p.Thr401=)
c.-888+536G= (n.-888+536G=)
17g.4933806C>GCA8314922CHRNE,GP1BAc.1202C>G (p.Thr401Ser)
c.-888+536G>C (n.-888+536G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933806C>TCA287217089CHRNE,GP1BAc.1202C>T (p.Thr401Ile)
c.-888+536G>A (n.-888+536G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933808delCA2635579018CHRNE,GP1BAc.1204del (p.Leu402TrpfsTer?)
c.-888+536del (n.-888+536del)
 gnomAD v4
17g.4933807C>ACA497677750CHRNE,GP1BAc.1203C>A (p.Thr401=)
c.-888+535G>T (n.-888+535G>T)
17g.4933807C>GCA497677751CHRNE,GP1BAc.1203C>G (p.Thr401=)
c.-888+535G>C (n.-888+535G>C)
17g.4933807C>TCA497677752CHRNE,GP1BAc.1203C>T (p.Thr401=)
c.-888+535G>A (n.-888+535G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933808C>ACA397320475CHRNE,GP1BAc.1204C>A (p.Leu402Met)
c.-888+534G>T (n.-888+534G>T)
17g.4933808C>GCA397320476CHRNE,GP1BAc.1204C>G (p.Leu402Val)
c.-888+534G>C (n.-888+534G>C)
17g.4933808C>TCA497677753CHRNE,GP1BAc.1204C>T (p.Leu402=)
c.-888+534G>A (n.-888+534G>A)
17g.4933809T>ACA397320477CHRNE,GP1BAc.1205T>A (p.Leu402Gln)
c.-888+533A>T (n.-888+533A>T)
 gnomAD v4
17g.4933809T>CCA397320478CHRNE,GP1BAc.1205T>C (p.Leu402Pro)
c.-888+533A>G (n.-888+533A>G)
 dbSNP gnomAD v4
17g.4933809T>GCA397320479CHRNE,GP1BAc.1205T>G (p.Leu402Arg)
c.-888+533A>C (n.-888+533A>C)
 gnomAD v4
17g.4933809T=CA2244625730CHRNE,GP1BAc.1205T= (p.Leu402=)
c.-888+533A= (n.-888+533A=)
17g.4933810G>ACA8314923CHRNE,GP1BAc.1206G>A (p.Leu402=)
c.-888+532C>T (n.-888+532C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933810G>CCA497677757CHRNE,GP1BAc.1206G>C (p.Leu402=)
c.-888+532C>G (n.-888+532C>G)
17g.4933810G=CA2244625731CHRNE,GP1BAc.1206G= (p.Leu402=)
c.-888+532C= (n.-888+532C=)
17g.4933810G>TCA497677758CHRNE,GP1BAc.1206G>T (p.Leu402=)
c.-888+532C>A (n.-888+532C>A)
17g.4933810_4933837delinsGGAGCCCACTCCAAGCCCGACCACCCCACA2244625732CHRNE,GP1BAc.1206_1233delinsGGAGCCCACTCCAAGCCCGACCACCCCA (p.Leu402=)
c.-888+505_-888+532delinsTGGGGTGGTCGGGCTTGGAGTGGGCTCC (n.-888+505_-888+532delinsTGGGGTGGTCGGGCTTGGAGTGGGCTCC)
17g.4933819_4933962delCA2540613392CHRNE,GP1BAc.1215_1358del (p.Pro406_Thr453del)
c.-888+389_-888+532del (n.-888+389_-888+532del)
c.1215_1280del
17g.4933811G>ACA397320480CHRNE,GP1BAc.1207G>A (p.Glu403Lys)
c.-888+531C>T (n.-888+531C>T)
17g.4933811G>CCA397320481CHRNE,GP1BAc.1207G>C (p.Glu403Gln)
c.-888+531C>G (n.-888+531C>G)
17g.4933811G>TCA397320482CHRNE,GP1BAc.1207G>T (p.Glu403Ter)
c.-888+531C>A (n.-888+531C>A)
17g.4933819_4933845delCA919780173CHRNE,GP1BAc.1215_1241del (p.Pro406_Thr414del)
c.-888+505_-888+531del (n.-888+505_-888+531del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4933817_4933855delCA2635579019CHRNE,GP1BAc.1213_1251del (p.Thr405_Pro417del)
c.-888+493_-888+531del (n.-888+493_-888+531del)
 gnomAD v4
17g.4933812A>CCA397320484CHRNE,GP1BAc.1208A>C (p.Glu403Ala)
c.-888+530T>G (n.-888+530T>G)
17g.4933812A>GCA397320485CHRNE,GP1BAc.1208A>G (p.Glu403Gly)
c.-888+530T>C (n.-888+530T>C)
17g.4933812A>TCA397320486CHRNE,GP1BAc.1208A>T (p.Glu403Val)
c.-888+530T>A (n.-888+530T>A)
17g.4933813G>ACA497677762CHRNE,GP1BAc.1209G>A (p.Glu403=)
c.-888+529C>T (n.-888+529C>T)
17g.4933813G>CCA397320488CHRNE,GP1BAc.1209G>C (p.Glu403Asp)
c.-888+529C>G (n.-888+529C>G)
17g.4933813G>TCA397320489CHRNE,GP1BAc.1209G>T (p.Glu403Asp)
c.-888+529C>A (n.-888+529C>A)
17g.4933814C>ACA397320490CHRNE,GP1BAc.1210C>A (p.Pro404Thr)
c.-888+528G>T (n.-888+528G>T)
 gnomAD v4
17g.4933814C>GCA397320491CHRNE,GP1BAc.1210C>G (p.Pro404Ala)
c.-888+528G>C (n.-888+528G>C)
17g.4933814C>TCA397320492CHRNE,GP1BAc.1210C>T (p.Pro404Ser)
c.-888+528G>A (n.-888+528G>A)
17g.4933815C>ACA397320493CHRNE,GP1BAc.1211C>A (p.Pro404His)
c.-888+527G>T (n.-888+527G>T)
17g.4933815C=CA2244625733CHRNE,GP1BAc.1211C= (p.Pro404=)
c.-888+527G= (n.-888+527G=)
17g.4933815C>GCA287217100CHRNE,GP1BAc.1211C>G (p.Pro404Arg)
c.-888+527G>C (n.-888+527G>C)
 dbSNP
17g.4933815C>TCA397320494CHRNE,GP1BAc.1211C>T (p.Pro404Leu)
c.-888+527G>A (n.-888+527G>A)
17g.4933819_4933833delCA980971859CHRNE,GP1BAc.1215_1229del (p.Pro406_Thr410del)
c.-888+513_-888+527del (n.-888+513_-888+527del)
 gnomAD v3 gnomAD v4
17g.4933816C>ACA497677766CHRNE,GP1BAc.1212C>A (p.Pro404=)
c.-888+526G>T (n.-888+526G>T)
17g.4933816C>GCA497677767CHRNE,GP1BAc.1212C>G (p.Pro404=)
c.-888+526G>C (n.-888+526G>C)
17g.4933816C>TCA497677768CHRNE,GP1BAc.1212C>T (p.Pro404=)
c.-888+526G>A (n.-888+526G>A)
17g.4933817A=CA2244625734CHRNE,GP1BAc.1213A= (p.Thr405=)
c.-888+525T= (n.-888+525T=)
17g.4933817A>CCA397320495CHRNE,GP1BAc.1213A>C (p.Thr405Pro)
c.-888+525T>G (n.-888+525T>G)
17g.4933817A>GCA397320496CHRNE,GP1BAc.1213A>G (p.Thr405Ala)
c.-888+525T>C (n.-888+525T>C)
17g.4933817A>TCA287217104CHRNE,GP1BAc.1213A>T (p.Thr405Ser)
c.-888+525T>A (n.-888+525T>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933818C>ACA397320497CHRNE,GP1BAc.1214C>A (p.Thr405Asn)
c.-888+524G>T (n.-888+524G>T)
17g.4933818C>GCA397320500CHRNE,GP1BAc.1214C>G (p.Thr405Ser)
c.-888+524G>C (n.-888+524G>C)
 ClinVar
17g.4933818C>TCA397320501CHRNE,GP1BAc.1214C>T (p.Thr405Ile)
c.-888+524G>A (n.-888+524G>A)
17g.4933819T>ACA497677772CHRNE,GP1BAc.1215T>A (p.Thr405=)
c.-888+523A>T (n.-888+523A>T)
17g.4933819T>CCA497677774CHRNE,GP1BAc.1215T>C (p.Thr405=)
c.-888+523A>G (n.-888+523A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.4933819T>GCA497677773CHRNE,GP1BAc.1215T>G (p.Thr405=)
c.-888+523A>C (n.-888+523A>C)
17g.4933819T=CA2244625735CHRNE,GP1BAc.1215T= (p.Thr405=)
c.-888+523A= (n.-888+523A=)
17g.4933819_4933963delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCA2244625736CHRNE,GP1BAc.1215_1359delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC (p.Thr405=)
c.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA (n.-888+379_-888+523delinsGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGA)
c.1215_1281delinsTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC
17g.4933820C>ACA397320508CHRNE,GP1BAc.1216C>A (p.Pro406Thr)
c.-888+522G>T (n.-888+522G>T)
17g.4933820C>GCA397320506CHRNE,GP1BAc.1216C>G (p.Pro406Ala)
c.-888+522G>C (n.-888+522G>C)
17g.4933820C>TCA397320503CHRNE,GP1BAc.1216C>T (p.Pro406Ser)
c.-888+522G>A (n.-888+522G>A)
17g.4933822_4933899delCA2635579021CHRNE,GP1BAc.1218_1295del (p.Ser407_Pro432del)
c.-888+445_-888+522del (n.-888+445_-888+522del)
c.1218_1272+23del
 gnomAD v4
17g.4933824_4933967delCA980971864CHRNE,GP1BAc.1220_1363del (p.Ser407_Pro454del)
c.-888+379_-888+522del (n.-888+379_-888+522del)
c.1220_1285del
 dbSNP gnomAD v3 gnomAD v4
17g.4933821C>ACA397320513CHRNE,GP1BAc.1217C>A (p.Pro406Gln)
c.-888+521G>T (n.-888+521G>T)
17g.4933821C=CA2244625737CHRNE,GP1BAc.1217C= (p.Pro406=)
c.-888+521G= (n.-888+521G=)
17g.4933821C>GCA397320510CHRNE,GP1BAc.1217C>G (p.Pro406Arg)
c.-888+521G>C (n.-888+521G>C)
17g.4933821C>TCA397320512CHRNE,GP1BAc.1217C>T (p.Pro406Leu)
c.-888+521G>A (n.-888+521G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933822A>CCA497677778CHRNE,GP1BAc.1218A>C (p.Pro406=)
c.-888+520T>G (n.-888+520T>G)
 gnomAD v4
17g.4933822A>GCA497677779CHRNE,GP1BAc.1218A>G (p.Pro406=)
c.-888+520T>C (n.-888+520T>C)
17g.4933822A>TCA497677781CHRNE,GP1BAc.1218A>T (p.Pro406=)
c.-888+520T>A (n.-888+520T>A)
17g.4933822_4933861delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCCA2244625740CHRNE,GP1BAc.1218_1257delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=)
c.-888+481_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+481_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT)
17g.4933822_4933900delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCCA2244625738CHRNE,GP1BAc.1218_1296delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=)
c.-888+442_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+442_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT)
c.1218_1272+24delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC
17g.4933822_4933939delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCCA2244625739CHRNE,GP1BAc.1218_1335delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC (p.Pro406=)
c.-888+403_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT (n.-888+403_-888+520delinsGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTT)
c.1218_1273-16delinsAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC
17g.4933823A>CCA397320516CHRNE,GP1BAc.1219A>C (p.Ser407Arg)
c.-888+519T>G (n.-888+519T>G)
17g.4933823A>GCA397320518CHRNE,GP1BAc.1219A>G (p.Ser407Gly)
c.-888+519T>C (n.-888+519T>C)
17g.4933823A>TCA397320519CHRNE,GP1BAc.1219A>T (p.Ser407Cys)
c.-888+519T>A (n.-888+519T>A)
17g.4933837_4933875delCA8314926CHRNE,GP1BAc.1233_1271del (p.Glu412_Pro424del)
c.-888+481_-888+519del (n.-888+481_-888+519del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933837_4933953delCA8314925CHRNE,GP1BAc.1233_1349del (p.Glu412_Pro450del)
c.-888+403_-888+519del (n.-888+403_-888+519del)
c.1233_1273-2del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933886_4933963delCA8314924CHRNE,GP1BAc.1282_1359del (p.Ser428_Thr453del)
c.-888+442_-888+519del (n.-888+442_-888+519del)
c.1272+10_1281del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933824G>ACA397320521CHRNE,GP1BAc.1220G>A (p.Ser407Asn)
c.-888+518C>T (n.-888+518C>T)
 gnomAD v4
17g.4933824G>CCA397320522CHRNE,GP1BAc.1220G>C (p.Ser407Thr)
c.-888+518C>G (n.-888+518C>G)
17g.4933824G>TCA397320525CHRNE,GP1BAc.1220G>T (p.Ser407Ile)
c.-888+518C>A (n.-888+518C>A)
 gnomAD v3 gnomAD v4
17g.4933825C>ACA397320528CHRNE,GP1BAc.1221C>A (p.Ser407Arg)
c.-888+517G>T (n.-888+517G>T)
 gnomAD v4
17g.4933825C=CA2244625741CHRNE,GP1BAc.1221C= (p.Ser407=)
c.-888+517G= (n.-888+517G=)
17g.4933825C>GCA397320530CHRNE,GP1BAc.1221C>G (p.Ser407Arg)
c.-888+517G>C (n.-888+517G>C)
17g.4933825C>TCA497677788CHRNE,GP1BAc.1221C>T (p.Ser407=)
c.-888+517G>A (n.-888+517G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.4933833_4933976delCA980971882CHRNE,GP1BAc.1229_1372del (p.Thr410_Thr457del)
c.-888+374_-888+517del (n.-888+374_-888+517del)
c.1229_1294del
 gnomAD v3 gnomAD v4
17g.4933826C>ACA397320532CHRNE,GP1BAc.1222C>A (p.Pro408Thr)
c.-888+516G>T (n.-888+516G>T)
 COSMIC
17g.4933826C>GCA397320533CHRNE,GP1BAc.1222C>G (p.Pro408Ala)
c.-888+516G>C (n.-888+516G>C)
17g.4933826C>TCA397320536CHRNE,GP1BAc.1222C>T (p.Pro408Ser)
c.-888+516G>A (n.-888+516G>A)
17g.4933827C>ACA8314928CHRNE,GP1BAc.1223C>A (p.Pro408Gln)
c.-888+515G>T (n.-888+515G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933827C=CA2244625742CHRNE,GP1BAc.1223C= (p.Pro408=)
c.-888+515G= (n.-888+515G=)
17g.4933827C>GCA397320537CHRNE,GP1BAc.1223C>G (p.Pro408Arg)
c.-888+515G>C (n.-888+515G>C)
 gnomAD v4
17g.4933827C>TCA8314927CHRNE,GP1BAc.1223C>T (p.Pro408Leu)
c.-888+515G>A (n.-888+515G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933827_4933828delinsCGCA2244625743CHRNE,GP1BAc.1223_1224delinsCG (p.Pro408=)
c.-888+514_-888+515delinsCG (n.-888+514_-888+515delinsCG)
17g.4933828delCA624856140CHRNE,GP1BAc.1224del (p.Thr409ProfsTer?)
c.-888+514del (n.-888+514del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933828G>ACA8314929CHRNE,GP1BAc.1224G>A (p.Pro408=)
c.-888+514C>T (n.-888+514C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933828G>CCA497677791CHRNE,GP1BAc.1224G>C (p.Pro408=)
c.-888+514C>G (n.-888+514C>G)
 dbSNP gnomAD v4
17g.4933828G=CA2244625744CHRNE,GP1BAc.1224G= (p.Pro408=)
c.-888+514C= (n.-888+514C=)
17g.4933828G>TCA497677792CHRNE,GP1BAc.1224G>T (p.Pro408=)
c.-888+514C>A (n.-888+514C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933828_4933829delCA2635579022CHRNE,GP1BAc.1224_1225del (p.Thr409HisfsTer?)
c.-888+513_-888+514del (n.-888+513_-888+514del)
 gnomAD v4
17g.4933828_4933915delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCACA2244625745CHRNE,GP1BAc.1224_1311delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Pro408=)
c.-888+427_-888+514delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTC (n.-888+427_-888+514delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTC)
c.1224_1273-40delinsGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA
17g.4933829delCA2635579023CHRNE,GP1BAc.1225del (p.Thr409ProfsTer?)
c.-888+513del (n.-888+513del)
 gnomAD v4
17g.4933829A=CA2244625747CHRNE,GP1BAc.1225A= (p.Thr409=)
c.-888+513T= (n.-888+513T=)
17g.4933829A>CCA397320542CHRNE,GP1BAc.1225A>C (p.Thr409Pro)
c.-888+513T>G (n.-888+513T>G)
17g.4933829A>GCA397320544CHRNE,GP1BAc.1225A>G (p.Thr409Ala)
c.-888+513T>C (n.-888+513T>C)
 dbSNP
17g.4933829A>TCA397320546CHRNE,GP1BAc.1225A>T (p.Thr409Ser)
c.-888+513T>A (n.-888+513T>A)
17g.4933829_4933846delCA2635579024CHRNE,GP1BAc.1225_1242del (p.Thr409_Thr414del)
c.-888+496_-888+513del (n.-888+496_-888+513del)
 gnomAD v4
17g.4933829_4933906delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGCA2244625746CHRNE,GP1BAc.1225_1302delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG (p.Thr409=)
c.-888+436_-888+513delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT (n.-888+436_-888+513delinsCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGT)
c.1225_1272+30delinsACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG
17g.4933829_4933915delCA980971891CHRNE,GP1BAc.1225_1311del (p.Thr409_Pro437del)
c.-888+427_-888+513del (n.-888+427_-888+513del)
c.1225_1273-40del
 dbSNP gnomAD v3 gnomAD v4
17g.4933830C>ACA397320550CHRNE,GP1BAc.1226C>A (p.Thr409Asn)
c.-888+512G>T (n.-888+512G>T)
17g.4933830C>GCA397320552CHRNE,GP1BAc.1226C>G (p.Thr409Ser)
c.-888+512G>C (n.-888+512G>C)
17g.4933830C>TCA397320555CHRNE,GP1BAc.1226C>T (p.Thr409Ile)
c.-888+512G>A (n.-888+512G>A)
17g.4933830_4933906delCA624856141CHRNE,GP1BAc.1226_1302del (p.Thr409AsnfsTer?)
c.-888+436_-888+512del (n.-888+436_-888+512del)
c.1226_1272+30del
 dbSNP gnomAD v2 gnomAD v4
17g.4933831C>ACA497677793CHRNE,GP1BAc.1227C>A (p.Thr409=)
c.-888+511G>T (n.-888+511G>T)
17g.4933831C>GCA497677794CHRNE,GP1BAc.1227C>G (p.Thr409=)
c.-888+511G>C (n.-888+511G>C)
 gnomAD v4
17g.4933831C>TCA497677795CHRNE,GP1BAc.1227C>T (p.Thr409=)
c.-888+511G>A (n.-888+511G>A)
 gnomAD v4
17g.4933832delCA2635579025CHRNE,GP1BAc.1228del (p.Thr410ProfsTer?)
c.-888+510del (n.-888+510del)
 gnomAD v4
17g.4933832A=CA2244625748CHRNE,GP1BAc.1228A= (p.Thr410=)
c.-888+510T= (n.-888+510T=)
17g.4933832A>CCA397320556CHRNE,GP1BAc.1228A>C (p.Thr410Pro)
c.-888+510T>G (n.-888+510T>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4933832A>GCA397320558CHRNE,GP1BAc.1228A>G (p.Thr410Ala)
c.-888+510T>C (n.-888+510T>C)
17g.4933832A>TCA397320561CHRNE,GP1BAc.1228A>T (p.Thr410Ser)
c.-888+510T>A (n.-888+510T>A)
17g.4933833C>ACA397320564CHRNE,GP1BAc.1229C>A (p.Thr410Asn)
c.-888+509G>T (n.-888+509G>T)
 gnomAD v4
17g.4933833C>GCA397320565CHRNE,GP1BAc.1229C>G (p.Thr410Ser)
c.-888+509G>C (n.-888+509G>C)
17g.4933833C>TCA397320568CHRNE,GP1BAc.1229C>T (p.Thr410Ile)
c.-888+509G>A (n.-888+509G>A)
 gnomAD v3 gnomAD v4
17g.4933833_4933846delCA980971895CHRNE,GP1BAc.1229_1242del (p.Thr410IlefsTer?)
c.-888+496_-888+509del (n.-888+496_-888+509del)
 gnomAD v3 gnomAD v4
17g.4933833_4933900delCA2635579026CHRNE,GP1BAc.1229_1296del (p.Thr410LysfsTer?)
c.-888+442_-888+509del (n.-888+442_-888+509del)
c.1229_1272+24del
 gnomAD v4
17g.4933834C>ACA497677801CHRNE,GP1BAc.1230C>A (p.Thr410=)
c.-888+508G>T (n.-888+508G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.4933834C=CA2244625749CHRNE,GP1BAc.1230C= (p.Thr410=)
c.-888+508G= (n.-888+508G=)
17g.4933834C>GCA497677798CHRNE,GP1BAc.1230C>G (p.Thr410=)
c.-888+508G>C (n.-888+508G>C)
17g.4933834C>TCA497677800CHRNE,GP1BAc.1230C>T (p.Thr410=)
c.-888+508G>A (n.-888+508G>A)
 gnomAD v4
17g.4933837_4933913delCA2635579027CHRNE,GP1BAc.1233_1309del (p.Glu412ArgfsTer?)
c.-888+432_-888+508del (n.-888+432_-888+508del)
c.1233_1272+37del
 gnomAD v4
17g.4933835_4933978delCA2808297149CHRNE,GP1BAc.1231_1374del (p.Pro411_Ile458del)
c.-888+365_-888+508del (n.-888+365_-888+508del)
c.1231_1296del
17g.4933836_4933997delCA2808297150CHRNE,GP1BAc.1232_1393del (p.Pro411_Ile464del)
c.-888+347_-888+508del (n.-888+347_-888+508del)
c.1232_1315del
17g.4933835C>ACA397320574CHRNE,GP1BAc.1231C>A (p.Pro411Thr)
c.-888+507G>T (n.-888+507G>T)
17g.4933835C=CA2244625750CHRNE,GP1BAc.1231C= (p.Pro411=)
c.-888+507G= (n.-888+507G=)
17g.4933835C>GCA397320572CHRNE,GP1BAc.1231C>G (p.Pro411Ala)
c.-888+507G>C (n.-888+507G>C)
17g.4933835C>TCA287217140CHRNE,GP1BAc.1231C>T (p.Pro411Ser)
c.-888+507G>A (n.-888+507G>A)
 dbSNP
17g.4933836C>ACA397320576CHRNE,GP1BAc.1232C>A (p.Pro411Gln)
c.-888+506G>T (n.-888+506G>T)
17g.4933836C=CA2244625751CHRNE,GP1BAc.1232C= (p.Pro411=)
c.-888+506G= (n.-888+506G=)
17g.4933836C>GCA397320580CHRNE,GP1BAc.1232C>G (p.Pro411Arg)
c.-888+506G>C (n.-888+506G>C)
17g.4933836C>TCA8314930CHRNE,GP1BAc.1232C>T (p.Pro411Leu)
c.-888+506G>A (n.-888+506G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933836_4933837delinsCACA2244625752CHRNE,GP1BAc.1232_1233delinsCA (p.Pro411=)
c.-888+505_-888+506delinsTG (n.-888+505_-888+506delinsTG)
17g.4933837delCA8314931CHRNE,GP1BAc.1233del (p.Glu412SerfsTer?)
c.-888+505del (n.-888+505del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933837A=CA2244625754CHRNE,GP1BAc.1233A= (p.Pro411=)
c.-888+505T= (n.-888+505T=)
17g.4933837A>CCA497677805CHRNE,GP1BAc.1233A>C (p.Pro411=)
c.-888+505T>G (n.-888+505T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4933837A>GCA8314932CHRNE,GP1BAc.1233A>G (p.Pro411=)
c.-888+505T>C (n.-888+505T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933837A>TCA497677806CHRNE,GP1BAc.1233A>T (p.Pro411=)
c.-888+505T>A (n.-888+505T>A)
17g.4933837_4933840delCA2635579029CHRNE,GP1BAc.1233_1236del (p.Glu412ProfsTer?)
c.-888+502_-888+505del (n.-888+502_-888+505del)
 dbSNP gnomAD v4
17g.4933839_4933840delCA2635579028CHRNE,GP1BAc.1235_1236del (p.Glu412AlafsTer?)
c.-888+504_-888+505del (n.-888+504_-888+505del)
 gnomAD v4
17g.4933837_4933876delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGCA2244625753CHRNE,GP1BAc.1233_1272delinsAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG (p.Pro411=)
c.-888+466_-888+505delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT (n.-888+466_-888+505delinsCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCT)
17g.4933838delCA2635579031CHRNE,GP1BAc.1234del (p.Glu412SerfsTer?)
c.-888+504del (n.-888+504del)
 gnomAD v4
17g.4933838G>ACA8314934CHRNE,GP1BAc.1234G>A (p.Glu412Lys)
c.-888+504C>T (n.-888+504C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933838G>CCA397320592CHRNE,GP1BAc.1234G>C (p.Glu412Gln)
c.-888+504C>G (n.-888+504C>G)
 gnomAD v4
17g.4933838G=CA2244625755CHRNE,GP1BAc.1234G= (p.Glu412=)
c.-888+504C= (n.-888+504C=)
17g.4933838G>TCA397320593CHRNE,GP1BAc.1234G>T (p.Glu412Ter)
c.-888+504C>A (n.-888+504C>A)
17g.4933838_4933840delCA2635579032CHRNE,GP1BAc.1234_1236del (p.Glu412del)
c.-888+502_-888+504del (n.-888+502_-888+504del)
 gnomAD v4
17g.4933838_4933846delCA2635579030CHRNE,GP1BAc.1234_1242del (p.Glu412_Thr414del)
c.-888+496_-888+504del (n.-888+496_-888+504del)
 gnomAD v4
17g.4933854_4933855insTGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCA624856144CHRNE,GP1BAc.1250_1251insTGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCC (p.Pro417_Ala418insAlaProSerProThrThrProGluProThrSerGluPro)
c.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCAGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCAGGCTCTGAGGTGGGCTC)
 dbSNP gnomAD v2 gnomAD v4
17g.4933870_4933871insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCCA2635579035CHRNE,GP1BAc.1266_1267insCCCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACC (p.Thr422_Thr423insProProGluProThrSerGluProAlaProSerProThr)
c.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGGGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC)
 gnomAD v4
17g.4933838_4933900delCA980971910CHRNE,GP1BAc.1234_1296del (p.Glu412_Pro432del)
c.-888+442_-888+504del (n.-888+442_-888+504del)
c.1234_1272+24del
 gnomAD v3 gnomAD v4
17g.4933838_4933911delCA2808297160CHRNE,GP1BAc.1234_1307del (p.Glu412ProfsTer?)
c.-888+431_-888+504del (n.-888+431_-888+504del)
c.1234_1272+35del
17g.4933914_4933915insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCCA624856142CHRNE,GP1BAc.1310_1311insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC (p.Pro437_Glu438insGluProThrSerGluProAlaProSerProThrThrProGluProThrSerGluProAlaProSerProThrThrPro)
c.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+504_-888+505insCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC)
c.1272+38_1273-40insGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCC
 ClinVar gnomAD v2 gnomAD v4
17g.4933876_4933914dupCA2635579033CHRNE,GP1BAc.1272_1310dup (p.Pro437_Glu438insGluProThrSerGluProAlaProSerProThrThrPro)
c.-888+466_-888+504dup (n.-888+466_-888+504dup)
c.1272_1272+38dup
 gnomAD v4
17g.4933876_4933914delCA624856143CHRNE,GP1BAc.1272_1310del (p.Glu425_Pro437del)
c.-888+466_-888+504del (n.-888+466_-888+504del)
c.1272_1272+38del
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.4933838_4933915delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCACA2244625756CHRNE,GP1BAc.1234_1311delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA (p.Glu412=)
c.-888+427_-888+504delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC (n.-888+427_-888+504delinsTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTC)
c.1234_1273-40delinsGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA
17g.4933847_4933963delCA980971914CHRNE,GP1BAc.1243_1359del (p.Ser415_Thr453del)
c.-888+388_-888+504del (n.-888+388_-888+504del)
c.1243_1281del
 gnomAD v3 gnomAD v4
17g.4933839A=CA2244625757CHRNE,GP1BAc.1235A= (p.Glu412=)
c.-888+503T= (n.-888+503T=)
17g.4933839A>CCA397320595CHRNE,GP1BAc.1235A>C (p.Glu412Ala)
c.-888+503T>G (n.-888+503T>G)
 gnomAD v3 gnomAD v4
17g.4933839A>GCA8314935CHRNE,GP1BAc.1235A>G (p.Glu412Gly)
c.-888+503T>C (n.-888+503T>C)
 dbSNP ExAC gnomAD v4
17g.4933839A>TCA397320596CHRNE,GP1BAc.1235A>T (p.Glu412Val)
c.-888+503T>A (n.-888+503T>A)
 gnomAD v3 gnomAD v4
17g.4933839_4933915delCA8314933CHRNE,GP1BAc.1235_1311del (p.Glu412GlyfsTer?)
c.-888+427_-888+503del (n.-888+427_-888+503del)
c.1235_1273-40del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933840delCA2635579036CHRNE,GP1BAc.1236del (p.Glu412AspfsTer?)
c.-888+502del (n.-888+502del)
 gnomAD v4
17g.4933840G>ACA497677808CHRNE,GP1BAc.1236G>A (p.Glu412=)
c.-888+502C>T (n.-888+502C>T)
 dbSNP
17g.4933840G>CCA397320598CHRNE,GP1BAc.1236G>C (p.Glu412Asp)
c.-888+502C>G (n.-888+502C>G)
17g.4933840G=CA2244625758CHRNE,GP1BAc.1236G= (p.Glu412=)
c.-888+502C= (n.-888+502C=)
17g.4933840G>TCA397320600CHRNE,GP1BAc.1236G>T (p.Glu412Asp)
c.-888+502C>A (n.-888+502C>A)
 gnomAD v4
17g.4933840_4933843delCA2635579037CHRNE,GP1BAc.1236_1239del (p.Thr414GlnfsTer?)
c.-888+499_-888+502del (n.-888+499_-888+502del)
 gnomAD v4
17g.4933841C>ACA8314936CHRNE,GP1BAc.1237C>A (p.Pro413Thr)
c.-888+501G>T (n.-888+501G>T)
 dbSNP ExAC
17g.4933841C=CA2244625759CHRNE,GP1BAc.1237C= (p.Pro413=)
c.-888+501G= (n.-888+501G=)
17g.4933841C>GCA397320601CHRNE,GP1BAc.1237C>G (p.Pro413Ala)
c.-888+501G>C (n.-888+501G>C)
 dbSNP
17g.4933841C>TCA397320603CHRNE,GP1BAc.1237C>T (p.Pro413Ser)
c.-888+501G>A (n.-888+501G>A)
17g.4933843delCA2635579038CHRNE,GP1BAc.1239del (p.Thr414ProfsTer?)
c.-888+501del (n.-888+501del)
 gnomAD v4
17g.4933842_4933843delCA2635579039CHRNE,GP1BAc.1238_1239del (p.Pro413HisfsTer?)
c.-888+500_-888+501del (n.-888+500_-888+501del)
 gnomAD v4
17g.4933841_4933849delCA2808297163CHRNE,GP1BAc.1237_1245del (p.Pro413_Ser415del)
c.-888+493_-888+501del (n.-888+493_-888+501del)
17g.4933842C>ACA397320605CHRNE,GP1BAc.1238C>A (p.Pro413His)
c.-888+500G>T (n.-888+500G>T)
 gnomAD v4
17g.4933842C>GCA397320607CHRNE,GP1BAc.1238C>G (p.Pro413Arg)
c.-888+500G>C (n.-888+500G>C)
17g.4933842C>TCA397320608CHRNE,GP1BAc.1238C>T (p.Pro413Leu)
c.-888+500G>A (n.-888+500G>A)
17g.4933842_4933917delCA2635579041CHRNE,GP1BAc.1238_1313del (p.Pro413ArgfsTer?)
c.-888+425_-888+500del (n.-888+425_-888+500del)
c.1238_1273-38del
 gnomAD v4
17g.4933843C>ACA497677814CHRNE,GP1BAc.1239C>A (p.Pro413=)
c.-888+499G>T (n.-888+499G>T)
17g.4933843C>GCA497677813CHRNE,GP1BAc.1239C>G (p.Pro413=)
c.-888+499G>C (n.-888+499G>C)
17g.4933843C>TCA497677812CHRNE,GP1BAc.1239C>T (p.Pro413=)
c.-888+499G>A (n.-888+499G>A)
17g.4933844delCA2635579042CHRNE,GP1BAc.1240del (p.Thr414ProfsTer?)
c.-888+498del (n.-888+498del)
 dbSNP gnomAD v4
17g.4933844A=CA2244625760CHRNE,GP1BAc.1240A= (p.Thr414=)
c.-888+498T= (n.-888+498T=)
17g.4933844A>CCA397320609CHRNE,GP1BAc.1240A>C (p.Thr414Pro)
c.-888+498T>G (n.-888+498T>G)
 gnomAD v3 gnomAD v4
17g.4933844A>GCA287217160CHRNE,GP1BAc.1240A>G (p.Thr414Ala)
c.-888+498T>C (n.-888+498T>C)
 dbSNP
17g.4933844A>TCA397320612CHRNE,GP1BAc.1240A>T (p.Thr414Ser)
c.-888+498T>A (n.-888+498T>A)
17g.4933844_4933856delinsACCTCAGAGCCCGCA2244625761CHRNE,GP1BAc.1240_1252delinsACCTCAGAGCCCG (p.Thr414=)
c.-888+486_-888+498delinsCGGGCTCTGAGGT (n.-888+486_-888+498delinsCGGGCTCTGAGGT)
17g.4933845C>ACA287217164CHRNE,GP1BAc.1241C>A (p.Thr414Asn)
c.-888+497G>T (n.-888+497G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933845C=CA2244625762CHRNE,GP1BAc.1241C= (p.Thr414=)
c.-888+497G= (n.-888+497G=)
17g.4933845C>GCA397320615CHRNE,GP1BAc.1241C>G (p.Thr414Ser)
c.-888+497G>C (n.-888+497G>C)
17g.4933845C>TCA397320616CHRNE,GP1BAc.1241C>T (p.Thr414Ile)
c.-888+497G>A (n.-888+497G>A)
17g.4933846delCA2635579046CHRNE,GP1BAc.1242del (p.Ser415GlnfsTer?)
c.-888+497del (n.-888+497del)
 gnomAD v4
17g.4933847_4933858delCA624856145CHRNE,GP1BAc.1243_1254del (p.Ser415_Ala418del)
c.-888+486_-888+497del (n.-888+486_-888+497del)
 dbSNP gnomAD v2 gnomAD v4
17g.4933847_4933859delCA2635579045CHRNE,GP1BAc.1243_1255del (p.Ser415ProfsTer?)
c.-888+485_-888+497del (n.-888+485_-888+497del)
c.1243_1255del (p.Ser415ProfsTer27)
 gnomAD v4
17g.4933845_4933921delCA2635579043CHRNE,GP1BAc.1241_1317del (p.Thr414AsnfsTer?)
c.-888+421_-888+497del (n.-888+421_-888+497del)
c.1241_1273-34del
 gnomAD v4
17g.4933846_4933921delCA2635579044CHRNE,GP1BAc.1242_1317del (p.Ser415ProfsTer?)
c.-888+422_-888+497del (n.-888+422_-888+497del)
c.1242_1273-34del
 gnomAD v4
17g.4933846C>ACA497677816CHRNE,GP1BAc.1242C>A (p.Thr414=)
c.-888+496G>T (n.-888+496G>T)
17g.4933846C=CA2244625763CHRNE,GP1BAc.1242C= (p.Thr414=)
c.-888+496G= (n.-888+496G=)
17g.4933846C>GCA497677817CHRNE,GP1BAc.1242C>G (p.Thr414=)
c.-888+496G>C (n.-888+496G>C)
17g.4933846C>TCA497677818CHRNE,GP1BAc.1242C>T (p.Thr414=)
c.-888+496G>A (n.-888+496G>A)
 dbSNP
17g.4933847_4933848delCA2635579047CHRNE,GP1BAc.1243_1244del (p.Ser415ArgfsTer?)
c.-888+495_-888+496del (n.-888+495_-888+496del)
 dbSNP gnomAD v4
17g.4933847delCA2635579048CHRNE,GP1BAc.1243del (p.Ser415GlnfsTer?)
c.-888+495del (n.-888+495del)
 gnomAD v4
17g.4933847T>ACA397320618CHRNE,GP1BAc.1243T>A (p.Ser415Thr)
c.-888+495A>T (n.-888+495A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.4933847T>CCA397320620CHRNE,GP1BAc.1243T>C (p.Ser415Pro)
c.-888+495A>G (n.-888+495A>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.4933847T>GCA397320621CHRNE,GP1BAc.1243T>G (p.Ser415Ala)
c.-888+495A>C (n.-888+495A>C)
17g.4933847T=CA2244625764CHRNE,GP1BAc.1243T= (p.Ser415=)
c.-888+495A= (n.-888+495A=)
17g.4933847_4933884delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCA2244625765CHRNE,GP1BAc.1243_1280delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC (p.Ser415=)
c.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGA (n.-888+458_-888+495delinsGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGA)
c.1243_1272+8delinsTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCAC
17g.4933848C>ACA397320623CHRNE,GP1BAc.1244C>A (p.Ser415Ter)
c.-888+494G>T (n.-888+494G>T)
17g.4933848C=CA2244625766CHRNE,GP1BAc.1244C= (p.Ser415=)
c.-888+494G= (n.-888+494G=)
17g.4933848C>GCA8314938CHRNE,GP1BAc.1244C>G (p.Ser415Ter)
c.-888+494G>C (n.-888+494G>C)
 dbSNP ExAC
17g.4933848C>TCA397320622CHRNE,GP1BAc.1244C>T (p.Ser415Leu)
c.-888+494G>A (n.-888+494G>A)
17g.4933848_4933849delinsCACA2244625767CHRNE,GP1BAc.1244_1245delinsCA (p.Ser415=)
c.-888+493_-888+494delinsTG (n.-888+493_-888+494delinsTG)
17g.4933849_4933855delCA980971939CHRNE,GP1BAc.1245_1251del (p.Glu416ProfsTer?)
c.-888+488_-888+494del (n.-888+488_-888+494del)
c.1245_1251del (p.Glu416ProfsTer28)
 gnomAD v3 gnomAD v4
17g.4933849_4933859delCA2635579049CHRNE,GP1BAc.1245_1255del (p.Glu416GlnfsTer?)
c.-888+484_-888+494del (n.-888+484_-888+494del)
 gnomAD v4
17g.4933849_4933885delCA8314937CHRNE,GP1BAc.1245_1281del (p.Glu416GlnfsTer?)
c.-888+458_-888+494del (n.-888+458_-888+494del)
c.1245_1272+9del
 dbSNP ExAC gnomAD v4
17g.4933849_4933903delCA2635579050CHRNE,GP1BAc.1245_1299del (p.Glu416ArgfsTer?)
c.-888+440_-888+494del (n.-888+440_-888+494del)
c.1245_1272+27del
 gnomAD v4
17g.4933848_4933924delCA2635579051CHRNE,GP1BAc.1244_1320del (p.Ser415PhefsTer?)
c.-888+418_-888+494del (n.-888+418_-888+494del)
c.1244_1273-31del
 gnomAD v4
17g.4933850_4933966delCA980971941CHRNE,GP1BAc.1246_1362del (p.Glu416_Pro454del)
c.-888+378_-888+494del (n.-888+378_-888+494del)
c.1246_1284del
 gnomAD v3 gnomAD v4
17g.4933849delCA8314939CHRNE,GP1BAc.1245del (p.Glu416SerfsTer?)
c.-888+493del (n.-888+493del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933849A=CA2244625768CHRNE,GP1BAc.1245A= (p.Ser415=)
c.-888+493T= (n.-888+493T=)
17g.4933849A>CCA497677824CHRNE,GP1BAc.1245A>C (p.Ser415=)
c.-888+493T>G (n.-888+493T>G)
17g.4933849A>GCA497677825CHRNE,GP1BAc.1245A>G (p.Ser415=)
c.-888+493T>C (n.-888+493T>C)
17g.4933849A>TCA497677823CHRNE,GP1BAc.1245A>T (p.Ser415=)
c.-888+493T>A (n.-888+493T>A)
 dbSNP gnomAD v4
17g.4933849_4933852delCA2635579053CHRNE,GP1BAc.1245_1248del (p.Glu416ProfsTer?)
c.-888+490_-888+493del (n.-888+490_-888+493del)
c.1245_1248del (p.Glu416ProfsTer29)
 gnomAD v4
17g.4933851_4933852delCA2635579052CHRNE,GP1BAc.1247_1248del (p.Glu416AlafsTer?)
c.-888+492_-888+493del (n.-888+492_-888+493del)
 gnomAD v4
17g.4933850delCA2635579054CHRNE,GP1BAc.1246del (p.Glu416SerfsTer?)
c.-888+492del (n.-888+492del)
c.1246del (p.Glu416SerfsTer30)
 gnomAD v4
17g.4933850G>ACA397320626CHRNE,GP1BAc.1246G>A (p.Glu416Lys)
c.-888+492C>T (n.-888+492C>T)
 COSMIC
17g.4933850G>CCA397320628CHRNE,GP1BAc.1246G>C (p.Glu416Gln)
c.-888+492C>G (n.-888+492C>G)
 gnomAD v4
17g.4933850G>TCA397320630CHRNE,GP1BAc.1246G>T (p.Glu416Ter)
c.-888+492C>A (n.-888+492C>A)
17g.4933850_4933852delCA2635579055CHRNE,GP1BAc.1246_1248del (p.Glu416del)
c.-888+490_-888+492del (n.-888+490_-888+492del)
 gnomAD v4
17g.4933850_4933925delCA2635579056CHRNE,GP1BAc.1246_1321del (p.Glu416GlnfsTer?)
c.-888+417_-888+492del (n.-888+417_-888+492del)
c.1246_1273-30del
 gnomAD v4
17g.4933856_4933960delCA980971948CHRNE,GP1BAc.1252_1356del (p.Ala418_Pro452del)
c.-888+388_-888+492del (n.-888+388_-888+492del)
c.1252_1278del
 gnomAD v3 gnomAD v4
17g.4933851A=CA2244625770CHRNE,GP1BAc.1247A= (p.Glu416=)
c.-888+491T= (n.-888+491T=)
17g.4933851A>CCA397320632CHRNE,GP1BAc.1247A>C (p.Glu416Ala)
c.-888+491T>G (n.-888+491T>G)
17g.4933851A>GCA397320633CHRNE,GP1BAc.1247A>G (p.Glu416Gly)
c.-888+491T>C (n.-888+491T>C)
 dbSNP gnomAD v4
17g.4933851A>TCA397320635CHRNE,GP1BAc.1247A>T (p.Glu416Val)
c.-888+491T>A (n.-888+491T>A)
17g.4933851_4933852delinsAGCA2244625769CHRNE,GP1BAc.1247_1248delinsAG (p.Glu416=)
c.-888+490_-888+491delinsCT (n.-888+490_-888+491delinsCT)
17g.4933851_4933927delCA8314940CHRNE,GP1BAc.1247_1323del (p.Glu416GlyfsTer?)
c.-888+415_-888+491del (n.-888+415_-888+491del)
c.1247_1273-28del
 ExAC gnomAD v2 gnomAD v4
17g.4933852delCA624856146CHRNE,GP1BAc.1248del (p.Glu416AspfsTer?)
c.-888+490del (n.-888+490del)
c.1248del (p.Glu416AspfsTer30)
 dbSNP gnomAD v2 gnomAD v4
17g.4933852G>ACA497677946CHRNE,GP1BAc.1248G>A (p.Glu416=)
c.-888+490C>T (n.-888+490C>T)
17g.4933852G>CCA397320639CHRNE,GP1BAc.1248G>C (p.Glu416Asp)
c.-888+490C>G (n.-888+490C>G)
17g.4933852G=CA2244625771CHRNE,GP1BAc.1248G= (p.Glu416=)
c.-888+490C= (n.-888+490C=)
17g.4933852G>TCA397320641CHRNE,GP1BAc.1248G>T (p.Glu416Asp)
c.-888+490C>A (n.-888+490C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933852_4933861delCA2635579057CHRNE,GP1BAc.1248_1257del (p.Pro417AlafsTer?)
c.-888+481_-888+490del (n.-888+481_-888+490del)
c.1248_1257del (p.Pro417AlafsTer26)
 gnomAD v4
17g.4933852_4933883delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACA2244625772CHRNE,GP1BAc.1248_1279delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCA (p.Glu416=)
c.-888+459_-888+490delinsTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGC (n.-888+459_-888+490delinsTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGC)
c.1248_1272+7delinsGCCCGCCCCCAGCCCGACCACCCCGGAGCCCA
17g.4933852_4933885delCA2635579058CHRNE,GP1BAc.1248_1281del (p.Glu416AspfsTer?)
c.-888+457_-888+490del (n.-888+457_-888+490del)
c.1248_1272+9del
 gnomAD v4
17g.4933853C>ACA397320643CHRNE,GP1BAc.1249C>A (p.Pro417Thr)
c.-888+489G>T (n.-888+489G>T)
17g.4933853C>GCA397320645CHRNE,GP1BAc.1249C>G (p.Pro417Ala)
c.-888+489G>C (n.-888+489G>C)
17g.4933853C>TCA397320646CHRNE,GP1BAc.1249C>T (p.Pro417Ser)
c.-888+489G>A (n.-888+489G>A)
 gnomAD v4
17g.4933856_4933861delCA2635579061CHRNE,GP1BAc.1252_1257del (p.Ala418_Pro419del)
c.-888+484_-888+489del (n.-888+484_-888+489del)
 gnomAD v4
17g.4933853_4933885delCA2635579059CHRNE,GP1BAc.1249_1281del (p.Pro417_Thr427del)
c.-888+457_-888+489del (n.-888+457_-888+489del)
c.1249_1272+9del
 gnomAD v4
17g.4933855_4933885delCA8314941CHRNE,GP1BAc.1251_1281del (p.Ala418GlnfsTer?)
c.-888+459_-888+489del (n.-888+459_-888+489del)
c.1251_1272+9del
 dbSNP ExAC gnomAD v4
17g.4933854_4933885delCA2635579062CHRNE,GP1BAc.1250_1281del (p.Pro417LeufsTer?)
c.-888+458_-888+489del (n.-888+458_-888+489del)
c.1250_1272+9del
 gnomAD v4
17g.4933854C>ACA397320650CHRNE,GP1BAc.1250C>A (p.Pro417His)
c.-888+488G>T (n.-888+488G>T)
 gnomAD v4
17g.4933854C=CA2244625773CHRNE,GP1BAc.1250C= (p.Pro417=)
c.-888+488G= (n.-888+488G=)
17g.4933854C>GCA397320649CHRNE,GP1BAc.1250C>G (p.Pro417Arg)
c.-888+488G>C (n.-888+488G>C)
17g.4933854C>TCA397320648CHRNE,GP1BAc.1250C>T (p.Pro417Leu)
c.-888+488G>A (n.-888+488G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933855C>ACA497677951CHRNE,GP1BAc.1251C>A (p.Pro417=)
c.-888+487G>T (n.-888+487G>T)
17g.4933855C=CA2244625774CHRNE,GP1BAc.1251C= (p.Pro417=)
c.-888+487G= (n.-888+487G=)
17g.4933855C>GCA497677952CHRNE,GP1BAc.1251C>G (p.Pro417=)
c.-888+487G>C (n.-888+487G>C)
 gnomAD v4
17g.4933855C>TCA8314942CHRNE,GP1BAc.1251C>T (p.Pro417=)
c.-888+487G>A (n.-888+487G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933856delCA980971961CHRNE,GP1BAc.1252del (p.Ala418ProfsTer?)
c.-888+486del (n.-888+486del)
c.1252del (p.Ala418ProfsTer28)
 dbSNP gnomAD v3 gnomAD v4
17g.4933856G>ACA8314943CHRNE,GP1BAc.1252G>A (p.Ala418Thr)
c.-888+486C>T (n.-888+486C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
17g.4933856G>CCA397320657CHRNE,GP1BAc.1252G>C (p.Ala418Pro)
c.-888+486C>G (n.-888+486C>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.4933856G=CA2244625775CHRNE,GP1BAc.1252G= (p.Ala418=)
c.-888+486C= (n.-888+486C=)
17g.4933856G>TCA397320658CHRNE,GP1BAc.1252G>T (p.Ala418Ser)
c.-888+486C>A (n.-888+486C>A)
 gnomAD v4
17g.4933857C>ACA397320659CHRNE,GP1BAc.1253C>A (p.Ala418Asp)
c.-888+485G>T (n.-888+485G>T)
 dbSNP
17g.4933857C=CA2244625776CHRNE,GP1BAc.1253C= (p.Ala418=)
c.-888+485G= (n.-888+485G=)
17g.4933857C>GCA397320661CHRNE,GP1BAc.1253C>G (p.Ala418Gly)
c.-888+485G>C (n.-888+485G>C)
 ClinVar
17g.4933857C>TCA397320662CHRNE,GP1BAc.1253C>T (p.Ala418Val)
c.-888+485G>A (n.-888+485G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.4933857_4933861dupCA2580610935CHRNE,GP1BAc.1253_1257dup (p.Ser420ProfsTer?)
c.-888+481_-888+485dup (n.-888+481_-888+485dup)
c.1253_1257dup (p.Ser420ProfsTer28)
17g.4933861delCA2635579070CHRNE,GP1BAc.1257del (p.Ser420AlafsTer?)
c.-888+485del (n.-888+485del)
c.1257del (p.Ser420AlafsTer26)
 gnomAD v4
17g.4933859_4933861delCA2635579071CHRNE,GP1BAc.1255_1257del (p.Pro419del)
c.-888+483_-888+485del (n.-888+483_-888+485del)
 gnomAD v4
17g.4933858_4933933delCA1139589209CHRNE,GP1BAc.1254_1329del (p.Ser420ProfsTer27)
c.-888+410_-888+485del (n.-888+410_-888+485del)
c.1254_1273-22del
17g.4933861_4933939delCA2635579072CHRNE,GP1BAc.1257_1335del (p.Ser420AlafsTer26)
c.-888+407_-888+485del (n.-888+407_-888+485del)
c.1257_1273-16del
 gnomAD v4
17g.4933858C>ACA497677956CHRNE,GP1BAc.1254C>A (p.Ala418=)
c.-888+484G>T (n.-888+484G>T)
 gnomAD v4
17g.4933858C>GCA497677957CHRNE,GP1BAc.1254C>G (p.Ala418=)
c.-888+484G>C (n.-888+484G>C)
17g.4933858C>TCA497677959CHRNE,GP1BAc.1254C>T (p.Ala418=)
c.-888+484G>A (n.-888+484G>A)
17g.4933859C>ACA397320663CHRNE,GP1BAc.1255C>A (p.Pro419Thr)
c.-888+483G>T (n.-888+483G>T)
 gnomAD v3 gnomAD v4
17g.4933859C>GCA397320664CHRNE,GP1BAc.1255C>G (p.Pro419Ala)
c.-888+483G>C (n.-888+483G>C)
17g.4933859C>TCA397320665CHRNE,GP1BAc.1255C>T (p.Pro419Ser)
c.-888+483G>A (n.-888+483G>A)
 gnomAD v4
17g.4933860C>ACA397320667CHRNE,GP1BAc.1256C>A (p.Pro419His)
c.-888+482G>T (n.-888+482G>T)
17g.4933860C>GCA397320669CHRNE,GP1BAc.1256C>G (p.Pro419Arg)
c.-888+482G>C (n.-888+482G>C)
17g.4933860C>TCA397320670CHRNE,GP1BAc.1256C>T (p.Pro419Leu)
c.-888+482G>A (n.-888+482G>A)
17g.4933862_4933893delCA2635579073CHRNE,GP1BAc.1258_1289del (p.Ser420ArgfsTer?)
c.-888+451_-888+482del (n.-888+451_-888+482del)
c.1258_1272+17del
 gnomAD v4
17g.4933861C>ACA497677961CHRNE,GP1BAc.1257C>A (p.Pro419=)
c.-888+481G>T (n.-888+481G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933861C=CA2244625777CHRNE,GP1BAc.1257C= (p.Pro419=)
c.-888+481G= (n.-888+481G=)
17g.4933861C>GCA497677962CHRNE,GP1BAc.1257C>G (p.Pro419=)
c.-888+481G>C (n.-888+481G>C)
17g.4933861C>TCA497677963CHRNE,GP1BAc.1257C>T (p.Pro419=)
c.-888+481G>A (n.-888+481G>A)
 gnomAD v4
17g.4933862_4933869delCA2635579075CHRNE,GP1BAc.1258_1265del (p.Ser420HisfsTer?)
c.-888+474_-888+481del (n.-888+474_-888+481del)
 gnomAD v4
17g.4933862_4933892delCA2635579074CHRNE,GP1BAc.1258_1288del (p.Ser420ProfsTer?)
c.-888+451_-888+481del (n.-888+451_-888+481del)
c.1258_1272+16del
 gnomAD v4
17g.4933862A=CA2244625778CHRNE,GP1BAc.1258A= (p.Ser420=)
c.-888+480T= (n.-888+480T=)
17g.4933862A>CCA397320673CHRNE,GP1BAc.1258A>C (p.Ser420Arg)
c.-888+480T>G (n.-888+480T>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.4933862A>GCA397320674CHRNE,GP1BAc.1258A>G (p.Ser420Gly)
c.-888+480T>C (n.-888+480T>C)
 gnomAD v4
17g.4933862A>TCA397320671CHRNE,GP1BAc.1258A>T (p.Ser420Cys)
c.-888+480T>A (n.-888+480T>A)
17g.4933862_4933863delCA2557364225CHRNE,GP1BAc.1258_1259del (p.Ser420ProfsTer?)
c.-888+479_-888+480del (n.-888+479_-888+480del)
 dbSNP gnomAD v4
17g.4933862_4933868delCA980971969CHRNE,GP1BAc.1258_1264del (p.Ser420ProfsTer?)
c.-888+474_-888+480del (n.-888+474_-888+480del)
c.1258_1264del (p.Ser420ProfsTer24)
 gnomAD v3 gnomAD v4
17g.4933862_4933871delCA2635579078CHRNE,GP1BAc.1258_1267del (p.Ser420ProfsTer?)
c.-888+471_-888+480del (n.-888+471_-888+480del)
c.1258_1267del (p.Ser420ProfsTer23)
 gnomAD v4
17g.4933862_4933882delinsAGCCCGACCACCCCGGAGCCCCA2244625779CHRNE,GP1BAc.1258_1278delinsAGCCCGACCACCCCGGAGCCC (p.Ser420=)
c.-888+460_-888+480delinsGGGCTCCGGGGTGGTCGGGCT (n.-888+460_-888+480delinsGGGCTCCGGGGTGGTCGGGCT)
c.1258_1272+6delinsAGCCCGACCACCCCGGAGCCC
17g.4933862_4933895delCA980971973CHRNE,GP1BAc.1258_1291del (p.Ser420ProfsTer?)
c.-888+447_-888+480del (n.-888+447_-888+480del)
c.1258_1272+19del
 gnomAD v3 gnomAD v4
17g.4933863delCA2635579086CHRNE,GP1BAc.1259del (p.Ser420ThrfsTer?)
c.-888+479del (n.-888+479del)
c.1259del (p.Ser420ThrfsTer26)
 gnomAD v4
17g.4933863G>ACA397320675CHRNE,GP1BAc.1259G>A (p.Ser420Asn)
c.-888+479C>T (n.-888+479C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.4933863G>CCA397320676CHRNE,GP1BAc.1259G>C (p.Ser420Thr)
c.-888+479C>G (n.-888+479C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.4933863G=CA2244625780CHRNE,GP1BAc.1259G= (p.Ser420=)
c.-888+479C= (n.-888+479C=)
17g.4933863G>TCA397320677CHRNE,GP1BAc.1259G>T (p.Ser420Ile)
c.-888+479C>A (n.-888+479C>A)
 gnomAD v4
17g.4933863_4933867delCA2635579085CHRNE,GP1BAc.1259_1263del (p.Ser420AsnfsTer?)
c.-888+475_-888+479del (n.-888+475_-888+479del)
 gnomAD v4
17g.4933864_4933877delCA2635579082CHRNE,GP1BAc.1260_1273del (p.Ser420ArgfsTer?)
c.-888+466_-888+479del (n.-888+466_-888+479del)
c.1260_1272+1del
 gnomAD v4
17g.4933863_4933882delCA624856147CHRNE,GP1BAc.1259_1278del (p.Ser420AsnfsTer?)
c.-888+460_-888+479del (n.-888+460_-888+479del)
c.1259_1272+6del
 dbSNP gnomAD v2
17g.4933863_4933883delinsGCCCGACCACCCCGGAGCCCACA2244625781CHRNE,GP1BAc.1259_1279delinsGCCCGACCACCCCGGAGCCCA (p.Ser420=)
c.-888+459_-888+479delinsTGGGCTCCGGGGTGGTCGGGC (n.-888+459_-888+479delinsTGGGCTCCGGGGTGGTCGGGC)
c.1259_1272+7delinsGCCCGACCACCCCGGAGCCCA
17g.4933863_4933895delCA2635579081CHRNE,GP1BAc.1259_1291del (p.Ser420_Ala431delinsThr)
c.-888+447_-888+479del (n.-888+447_-888+479del)
c.1259_1272+19del
 gnomAD v4
17g.4933863_4933934delCA2635579080CHRNE,GP1BAc.1259_1330del (p.Ser420_Ala444delinsThr)
c.-888+408_-888+479del (n.-888+408_-888+479del)
c.1259_1273-21del
 gnomAD v4

Number of alleles fetched