Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933734A>CCA397320161CHRNE,GP1BAc.1130A>C (p.Lys377Thr)
c.-888+608T>G (n.-888+608T>G)
17g.4933734A>GCA397320162CHRNE,GP1BAc.1130A>G (p.Lys377Arg)
c.-888+608T>C (n.-888+608T>C)
17g.4933734A>TCA397320164CHRNE,GP1BAc.1130A>T (p.Lys377Ile)
c.-888+608T>A (n.-888+608T>A)
17g.4933735A>CCA397320165CHRNE,GP1BAc.1131A>C (p.Lys377Asn)
c.-888+607T>G (n.-888+607T>G)
17g.4933735A>GCA497677696CHRNE,GP1BAc.1131A>G (p.Lys377=)
c.-888+607T>C (n.-888+607T>C)
17g.4933735A>TCA397320166CHRNE,GP1BAc.1131A>T (p.Lys377Asn)
c.-888+607T>A (n.-888+607T>A)
17g.4933736T>ACA397320170CHRNE,GP1BAc.1132T>A (p.Ser378Thr)
c.-888+606A>T (n.-888+606A>T)
17g.4933736T>CCA397320169CHRNE,GP1BAc.1132T>C (p.Ser378Pro)
c.-888+606A>G (n.-888+606A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933736T>GCA287216958CHRNE,GP1BAc.1132T>G (p.Ser378Ala)
c.-888+606A>C (n.-888+606A>C)
 dbSNP
17g.4933736T=CA2244625696CHRNE,GP1BAc.1132T= (p.Ser378=)
c.-888+606A= (n.-888+606A=)
17g.4933737C>ACA397320173CHRNE,GP1BAc.1133C>A (p.Ser378Tyr)
c.-888+605G>T (n.-888+605G>T)
17g.4933737C>GCA397320175CHRNE,GP1BAc.1133C>G (p.Ser378Cys)
c.-888+605G>C (n.-888+605G>C)
17g.4933737C>TCA397320178CHRNE,GP1BAc.1133C>T (p.Ser378Phe)
c.-888+605G>A (n.-888+605G>A)
 ClinVar
17g.4933738C>ACA497677697CHRNE,GP1BAc.1134C>A (p.Ser378=)
c.-888+604G>T (n.-888+604G>T)
 COSMIC
17g.4933738C>GCA497677698CHRNE,GP1BAc.1134C>G (p.Ser378=)
c.-888+604G>C (n.-888+604G>C)
17g.4933738C>TCA497677699CHRNE,GP1BAc.1134C>T (p.Ser378=)
c.-888+604G>A (n.-888+604G>A)
17g.4933739A>CCA397320181CHRNE,GP1BAc.1135A>C (p.Thr379Pro)
c.-888+603T>G (n.-888+603T>G)
17g.4933739A>GCA397320182CHRNE,GP1BAc.1135A>G (p.Thr379Ala)
c.-888+603T>C (n.-888+603T>C)
17g.4933739A>TCA397320183CHRNE,GP1BAc.1135A>T (p.Thr379Ser)
c.-888+603T>A (n.-888+603T>A)
17g.4933740C>ACA397320186CHRNE,GP1BAc.1136C>A (p.Thr379Asn)
c.-888+602G>T (n.-888+602G>T)
17g.4933740C>GCA397320189CHRNE,GP1BAc.1136C>G (p.Thr379Ser)
c.-888+602G>C (n.-888+602G>C)
17g.4933740C>TCA397320193CHRNE,GP1BAc.1136C>T (p.Thr379Ile)
c.-888+602G>A (n.-888+602G>A)
17g.4933741T>ACA497677700CHRNE,GP1BAc.1137T>A (p.Thr379=)
c.-888+601A>T (n.-888+601A>T)
17g.4933741T>CCA497677701CHRNE,GP1BAc.1137T>C (p.Thr379=)
c.-888+601A>G (n.-888+601A>G)
17g.4933741T>GCA497677702CHRNE,GP1BAc.1137T>G (p.Thr379=)
c.-888+601A>C (n.-888+601A>C)
17g.4933742A>CCA397320197CHRNE,GP1BAc.1138A>C (p.Thr380Pro)
c.-888+600T>G (n.-888+600T>G)
17g.4933742A>GCA397320198CHRNE,GP1BAc.1138A>G (p.Thr380Ala)
c.-888+600T>C (n.-888+600T>C)
17g.4933742A>TCA397320199CHRNE,GP1BAc.1138A>T (p.Thr380Ser)
c.-888+600T>A (n.-888+600T>A)
17g.4933743C>ACA397320208CHRNE,GP1BAc.1139C>A (p.Thr380Asn)
c.-888+599G>T (n.-888+599G>T)
17g.4933743C>GCA397320205CHRNE,GP1BAc.1139C>G (p.Thr380Ser)
c.-888+599G>C (n.-888+599G>C)
17g.4933743C>TCA397320202CHRNE,GP1BAc.1139C>T (p.Thr380Ile)
c.-888+599G>A (n.-888+599G>A)
17g.4933744T>ACA497677704CHRNE,GP1BAc.1140T>A (p.Thr380=)
c.-888+598A>T (n.-888+598A>T)
17g.4933744T>CCA8314903CHRNE,GP1BAc.1140T>C (p.Thr380=)
c.-888+598A>G (n.-888+598A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933744T>GCA497677703CHRNE,GP1BAc.1140T>G (p.Thr380=)
c.-888+598A>C (n.-888+598A>C)
17g.4933744T=CA2244625697CHRNE,GP1BAc.1140T= (p.Thr380=)
c.-888+598A= (n.-888+598A=)
17g.4933745G>ACA397320212CHRNE,GP1BAc.1141G>A (p.Glu381Lys)
c.-888+597C>T (n.-888+597C>T)
 dbSNP
17g.4933745G>CCA397320215CHRNE,GP1BAc.1141G>C (p.Glu381Gln)
c.-888+597C>G (n.-888+597C>G)
17g.4933745G=CA2244625698CHRNE,GP1BAc.1141G= (p.Glu381=)
c.-888+597C= (n.-888+597C=)
17g.4933745G>TCA397320216CHRNE,GP1BAc.1141G>T (p.Glu381Ter)
c.-888+597C>A (n.-888+597C>A)
17g.4933746A>CCA397320218CHRNE,GP1BAc.1142A>C (p.Glu381Ala)
c.-888+596T>G (n.-888+596T>G)
17g.4933746A>GCA397320220CHRNE,GP1BAc.1142A>G (p.Glu381Gly)
c.-888+596T>C (n.-888+596T>C)
17g.4933746A>TCA397320223CHRNE,GP1BAc.1142A>T (p.Glu381Val)
c.-888+596T>A (n.-888+596T>A)
17g.4933747A>CCA397320226CHRNE,GP1BAc.1143A>C (p.Glu381Asp)
c.-888+595T>G (n.-888+595T>G)
17g.4933747A>GCA497677705CHRNE,GP1BAc.1143A>G (p.Glu381=)
c.-888+595T>C (n.-888+595T>C)
 gnomAD v4
17g.4933747A>TCA397320227CHRNE,GP1BAc.1143A>T (p.Glu381Asp)
c.-888+595T>A (n.-888+595T>A)
17g.4933748C>ACA397320229CHRNE,GP1BAc.1144C>A (p.Pro382Thr)
c.-888+594G>T (n.-888+594G>T)
17g.4933748C>GCA397320230CHRNE,GP1BAc.1144C>G (p.Pro382Ala)
c.-888+594G>C (n.-888+594G>C)
17g.4933748C>TCA397320232CHRNE,GP1BAc.1144C>T (p.Pro382Ser)
c.-888+594G>A (n.-888+594G>A)
17g.4933749C>ACA8314905CHRNE,GP1BAc.1145C>A (p.Pro382Gln)
c.-888+593G>T (n.-888+593G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933749C=CA2244625699CHRNE,GP1BAc.1145C= (p.Pro382=)
c.-888+593G= (n.-888+593G=)
17g.4933749C>GCA397320239CHRNE,GP1BAc.1145C>G (p.Pro382Arg)
c.-888+593G>C (n.-888+593G>C)
17g.4933749C>TCA8314904CHRNE,GP1BAc.1145C>T (p.Pro382Leu)
c.-888+593G>A (n.-888+593G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933750A>CCA497677706CHRNE,GP1BAc.1146A>C (p.Pro382=)
c.-888+592T>G (n.-888+592T>G)
17g.4933750A>GCA497677707CHRNE,GP1BAc.1146A>G (p.Pro382=)
c.-888+592T>C (n.-888+592T>C)
17g.4933750A>TCA497677708CHRNE,GP1BAc.1146A>T (p.Pro382=)
c.-888+592T>A (n.-888+592T>A)
17g.4933751A=CA2244625700CHRNE,GP1BAc.1147A= (p.Thr383=)
c.-888+591T= (n.-888+591T=)
17g.4933751A>CCA397320242CHRNE,GP1BAc.1147A>C (p.Thr383Pro)
c.-888+591T>G (n.-888+591T>G)
17g.4933751A>GCA397320244CHRNE,GP1BAc.1147A>G (p.Thr383Ala)
c.-888+591T>C (n.-888+591T>C)
 dbSNP gnomAD v2
17g.4933751A>TCA397320246CHRNE,GP1BAc.1147A>T (p.Thr383Ser)
c.-888+591T>A (n.-888+591T>A)
17g.4933751_4933934delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCA2244625701CHRNE,GP1BAc.1147_1330delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG (p.Thr383=)
c.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT (n.-888+408_-888+591delinsCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTGGGCTCTGGGGTGGTCGGGCTTGGAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGGGT)
c.1147_1273-21delinsACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCG
17g.4933752C>ACA8314906CHRNE,GP1BAc.1148C>A (p.Thr383Asn)
c.-888+590G>T (n.-888+590G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933752C=CA2244625702CHRNE,GP1BAc.1148C= (p.Thr383=)
c.-888+590G= (n.-888+590G=)
17g.4933752C>GCA397320251CHRNE,GP1BAc.1148C>G (p.Thr383Ser)
c.-888+590G>C (n.-888+590G>C)
17g.4933752C>TCA397320253CHRNE,GP1BAc.1148C>T (p.Thr383Ile)
c.-888+590G>A (n.-888+590G>A)
 gnomAD v4
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.4933753C>ACA497677709CHRNE,GP1BAc.1149C>A (p.Thr383=)
c.-888+589G>T (n.-888+589G>T)
17g.4933753C>GCA497677710CHRNE,GP1BAc.1149C>G (p.Thr383=)
c.-888+589G>C (n.-888+589G>C)
17g.4933753C>TCA497677711CHRNE,GP1BAc.1149C>T (p.Thr383=)
c.-888+589G>A (n.-888+589G>A)
 gnomAD v3 gnomAD v4
17g.4933753_4933819delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCA2244625703CHRNE,GP1BAc.1149_1215delinsCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACT (p.Thr383=)
c.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG (n.-888+523_-888+589delinsAGTGGGCTCCAGGGTGGTCATGTTTGGGGCGGGCTCCGGGACGGGCTCTGAGGTGGTCGGGCTTGGG)
17g.4933754C>ACA397320259CHRNE,GP1BAc.1150C>A (p.Pro384Thr)
c.-888+588G>T (n.-888+588G>T)
17g.4933754C=CA2244625704CHRNE,GP1BAc.1150C= (p.Pro384=)
c.-888+588G= (n.-888+588G=)
17g.4933754C>GCA397320258CHRNE,GP1BAc.1150C>G (p.Pro384Ala)
c.-888+588G>C (n.-888+588G>C)
17g.4933754C>TCA397320256CHRNE,GP1BAc.1150C>T (p.Pro384Ser)
c.-888+588G>A (n.-888+588G>A)
 dbSNP gnomAD v3 gnomAD v4
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.4933755C>ACA397320262CHRNE,GP1BAc.1151C>A (p.Pro384Gln)
c.-888+587G>T (n.-888+587G>T)
17g.4933755C>GCA397320264CHRNE,GP1BAc.1151C>G (p.Pro384Arg)
c.-888+587G>C (n.-888+587G>C)
17g.4933755C>TCA397320267CHRNE,GP1BAc.1151C>T (p.Pro384Leu)
c.-888+587G>A (n.-888+587G>A)
17g.4933756A>CCA497677712CHRNE,GP1BAc.1152A>C (p.Pro384=)
c.-888+586T>G (n.-888+586T>G)
17g.4933756A>GCA497677713CHRNE,GP1BAc.1152A>G (p.Pro384=)
c.-888+586T>C (n.-888+586T>C)
17g.4933756A>TCA497677714CHRNE,GP1BAc.1152A>T (p.Pro384=)
c.-888+586T>A (n.-888+586T>A)
17g.4933757A=CA2244625705CHRNE,GP1BAc.1153A= (p.Ser385=)
c.-888+585T= (n.-888+585T=)
17g.4933757A>CCA397320269CHRNE,GP1BAc.1153A>C (p.Ser385Arg)
c.-888+585T>G (n.-888+585T>G)
17g.4933757A>GCA8314907CHRNE,GP1BAc.1153A>G (p.Ser385Gly)
c.-888+585T>C (n.-888+585T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933757A>TCA397320271CHRNE,GP1BAc.1153A>T (p.Ser385Cys)
c.-888+585T>A (n.-888+585T>A)
17g.4933758G>ACA397320278CHRNE,GP1BAc.1154G>A (p.Ser385Asn)
c.-888+584C>T (n.-888+584C>T)
 dbSNP gnomAD v4
17g.4933758G>CCA397320274CHRNE,GP1BAc.1154G>C (p.Ser385Thr)
c.-888+584C>G (n.-888+584C>G)
17g.4933758G=CA2244625706CHRNE,GP1BAc.1154G= (p.Ser385=)
c.-888+584C= (n.-888+584C=)
17g.4933758G>TCA397320276CHRNE,GP1BAc.1154G>T (p.Ser385Ile)
c.-888+584C>A (n.-888+584C>A)
17g.4933759C>ACA397320279CHRNE,GP1BAc.1155C>A (p.Ser385Arg)
c.-888+583G>T (n.-888+583G>T)
17g.4933759C=CA2244625707CHRNE,GP1BAc.1155C= (p.Ser385=)
c.-888+583G= (n.-888+583G=)
17g.4933759C>GCA8314908CHRNE,GP1BAc.1155C>G (p.Ser385Arg)
c.-888+583G>C (n.-888+583G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933759C>TCA497677715CHRNE,GP1BAc.1155C>T (p.Ser385=)
c.-888+583G>A (n.-888+583G>A)
17g.4933760C>ACA397320283CHRNE,GP1BAc.1156C>A (p.Pro386Thr)
c.-888+582G>T (n.-888+582G>T)
17g.4933760C>GCA397320286CHRNE,GP1BAc.1156C>G (p.Pro386Ala)
c.-888+582G>C (n.-888+582G>C)
17g.4933760C>TCA397320290CHRNE,GP1BAc.1156C>T (p.Pro386Ser)
c.-888+582G>A (n.-888+582G>A)
17g.4933761C>ACA397320294CHRNE,GP1BAc.1157C>A (p.Pro386Gln)
c.-888+581G>T (n.-888+581G>T)
17g.4933761C=CA2244625708CHRNE,GP1BAc.1157C= (p.Pro386=)
c.-888+581G= (n.-888+581G=)
17g.4933761C>GCA8314909CHRNE,GP1BAc.1157C>G (p.Pro386Arg)
c.-888+581G>C (n.-888+581G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933761C>TCA397320299CHRNE,GP1BAc.1157C>T (p.Pro386Leu)
c.-888+581G>A (n.-888+581G>A)
 dbSNP gnomAD v4
17g.4933762delCA2635579009CHRNE,GP1BAc.1158del (p.Thr387ProfsTer13)
c.-888+580del (n.-888+580del)
 gnomAD v4
17g.4933762G>ACA497677716CHRNE,GP1BAc.1158G>A (p.Pro386=)
c.-888+580C>T (n.-888+580C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933762G>CCA8314910CHRNE,GP1BAc.1158G>C (p.Pro386=)
c.-888+580C>G (n.-888+580C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933762G=CA2244625709CHRNE,GP1BAc.1158G= (p.Pro386=)
c.-888+580C= (n.-888+580C=)
17g.4933762G>TCA8314911CHRNE,GP1BAc.1158G>T (p.Pro386=)
c.-888+580C>A (n.-888+580C>A)
 dbSNP ExAC gnomAD v2 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

Number of alleles fetched