Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.4933385A>CCA397318605CHRNE,GP1BAc.781A>C (p.Ser261Arg)
c.-888+957T>G (n.-888+957T>G)
17g.4933385A>GCA397318604CHRNE,GP1BAc.781A>G (p.Ser261Gly)
c.-888+957T>C (n.-888+957T>C)
17g.4933385A>TCA397318603CHRNE,GP1BAc.781A>T (p.Ser261Cys)
c.-888+957T>A (n.-888+957T>A)
17g.4933386G>ACA397318606CHRNE,GP1BAc.782G>A (p.Ser261Asn)
c.-888+956C>T (n.-888+956C>T)
17g.4933386G>CCA397318607CHRNE,GP1BAc.782G>C (p.Ser261Thr)
c.-888+956C>G (n.-888+956C>G)
17g.4933386G>TCA397318608CHRNE,GP1BAc.782G>T (p.Ser261Ile)
c.-888+956C>A (n.-888+956C>A)
17g.4933387T>ACA397318610CHRNE,GP1BAc.783T>A (p.Ser261Arg)
c.-888+955A>T (n.-888+955A>T)
gnomAD v4
17g.4933387T>CCA497677497CHRNE,GP1BAc.783T>C (p.Ser261=)
c.-888+955A>G (n.-888+955A>G)
dbSNP gnomAD v4
17g.4933387T>GCA397318611CHRNE,GP1BAc.783T>G (p.Ser261Arg)
c.-888+955A>C (n.-888+955A>C)
17g.4933387T=CA2244625535CHRNE,GP1BAc.783T= (p.Ser261=)
c.-888+955A= (n.-888+955A=)
17g.4933388G>ACA397318612CHRNE,GP1BAc.784G>A (p.Val262Met)
c.-888+954C>T (n.-888+954C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933388G>CCA397318613CHRNE,GP1BAc.784G>C (p.Val262Leu)
c.-888+954C>G (n.-888+954C>G)
17g.4933388G=CA2244625536CHRNE,GP1BAc.784G= (p.Val262=)
c.-888+954C= (n.-888+954C=)
17g.4933388G>TCA397318615CHRNE,GP1BAc.784G>T (p.Val262Leu)
c.-888+954C>A (n.-888+954C>A)
17g.4933389T>ACA397318619CHRNE,GP1BAc.785T>A (p.Val262Glu)
c.-888+953A>T (n.-888+953A>T)
17g.4933389T>CCA397318620CHRNE,GP1BAc.785T>C (p.Val262Ala)
c.-888+953A>G (n.-888+953A>G)
dbSNP gnomAD v4
17g.4933389T>GCA397318622CHRNE,GP1BAc.785T>G (p.Val262Gly)
c.-888+953A>C (n.-888+953A>C)
17g.4933389T=CA2244625537CHRNE,GP1BAc.785T= (p.Val262=)
c.-888+953A= (n.-888+953A=)
17g.4933390G>ACA497677501CHRNE,GP1BAc.786G>A (p.Val262=)
c.-888+952C>T (n.-888+952C>T)
17g.4933390G>CCA497677502CHRNE,GP1BAc.786G>C (p.Val262=)
c.-888+952C>G (n.-888+952C>G)
gnomAD v4
17g.4933390G>TCA497677504CHRNE,GP1BAc.786G>T (p.Val262=)
c.-888+952C>A (n.-888+952C>A)
17g.4933391C>ACA397318634CHRNE,GP1BAc.787C>A (p.Gln263Lys)
c.-888+951G>T (n.-888+951G>T)
dbSNP gnomAD v4
17g.4933391C=CA2244625538CHRNE,GP1BAc.787C= (p.Gln263=)
c.-888+951G= (n.-888+951G=)
17g.4933391C>GCA397318631CHRNE,GP1BAc.787C>G (p.Gln263Glu)
c.-888+951G>C (n.-888+951G>C)
17g.4933391C>TCA397318626CHRNE,GP1BAc.787C>T (p.Gln263Ter)
c.-888+951G>A (n.-888+951G>A)
dbSNP gnomAD v2 gnomAD v4
17g.4933392A=CA2244625539CHRNE,GP1BAc.788A= (p.Gln263=)
c.-888+950T= (n.-888+950T=)
17g.4933392A>CCA397318638CHRNE,GP1BAc.788A>C (p.Gln263Pro)
c.-888+950T>G (n.-888+950T>G)
dbSNP
17g.4933392A>GCA8314830CHRNE,GP1BAc.788A>G (p.Gln263Arg)
c.-888+950T>C (n.-888+950T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933392A>TCA397318643CHRNE,GP1BAc.788A>T (p.Gln263Leu)
c.-888+950T>A (n.-888+950T>A)
17g.4933393G>ACA8314831CHRNE,GP1BAc.789G>A (p.Gln263=)
c.-888+949C>T (n.-888+949C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933393G>CCA397318647CHRNE,GP1BAc.789G>C (p.Gln263His)
c.-888+949C>G (n.-888+949C>G)
17g.4933393G=CA2244625540CHRNE,GP1BAc.789G= (p.Gln263=)
c.-888+949C= (n.-888+949C=)
17g.4933393G>TCA397318650CHRNE,GP1BAc.789G>T (p.Gln263His)
c.-888+949C>A (n.-888+949C>A)
17g.4933394T>ACA397318653CHRNE,GP1BAc.790T>A (p.Cys264Ser)
c.-888+948A>T (n.-888+948A>T)
17g.4933394T>CCA397318655CHRNE,GP1BAc.790T>C (p.Cys264Arg)
c.-888+948A>G (n.-888+948A>G)
17g.4933394T>GCA397318658CHRNE,GP1BAc.790T>G (p.Cys264Gly)
c.-888+948A>C (n.-888+948A>C)
17g.4933395G>ACA397318661CHRNE,GP1BAc.791G>A (p.Cys264Tyr)
c.-888+947C>T (n.-888+947C>T)
17g.4933395G>CCA397318663CHRNE,GP1BAc.791G>C (p.Cys264Ser)
c.-888+947C>G (n.-888+947C>G)
17g.4933395G>TCA397318665CHRNE,GP1BAc.791G>T (p.Cys264Phe)
c.-888+947C>A (n.-888+947C>A)
17g.4933396T>ACA397318668CHRNE,GP1BAc.792T>A (p.Cys264Ter)
c.-888+946A>T (n.-888+946A>T)
dbSNP
17g.4933396T>CCA497677510CHRNE,GP1BAc.792T>C (p.Cys264=)
c.-888+946A>G (n.-888+946A>G)
17g.4933396T>GCA397318666CHRNE,GP1BAc.792T>G (p.Cys264Trp)
c.-888+946A>C (n.-888+946A>C)
17g.4933396T=CA2244625541CHRNE,GP1BAc.792T= (p.Cys264=)
c.-888+946A= (n.-888+946A=)
17g.4933397G>ACA8314832CHRNE,GP1BAc.793G>A (p.Asp265Asn)
c.-888+945C>T (n.-888+945C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933397G>CCA397318672CHRNE,GP1BAc.793G>C (p.Asp265His)
c.-888+945C>G (n.-888+945C>G)
17g.4933397G=CA2244625542CHRNE,GP1BAc.793G= (p.Asp265=)
c.-888+945C= (n.-888+945C=)
17g.4933397G>TCA397318673CHRNE,GP1BAc.793G>T (p.Asp265Tyr)
c.-888+945C>A (n.-888+945C>A)
ClinVar dbSNP
17g.4933398A>CCA397318675CHRNE,GP1BAc.794A>C (p.Asp265Ala)
c.-888+944T>G (n.-888+944T>G)
17g.4933398A>GCA397318677CHRNE,GP1BAc.794A>G (p.Asp265Gly)
c.-888+944T>C (n.-888+944T>C)
17g.4933398A>TCA397318679CHRNE,GP1BAc.794A>T (p.Asp265Val)
c.-888+944T>A (n.-888+944T>A)
17g.4933399C>ACA397318682CHRNE,GP1BAc.795C>A (p.Asp265Glu)
c.-888+943G>T (n.-888+943G>T)
gnomAD v4
17g.4933399C=CA2244625543CHRNE,GP1BAc.795C= (p.Asp265=)
c.-888+943G= (n.-888+943G=)
17g.4933399C>GCA397318684CHRNE,GP1BAc.795C>G (p.Asp265Glu)
c.-888+943G>C (n.-888+943G>C)
dbSNP gnomAD v2 gnomAD v4
17g.4933399C>TCA8314833CHRNE,GP1BAc.795C>T (p.Asp265=)
c.-888+943G>A (n.-888+943G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933400A=CA2244625544CHRNE,GP1BAc.796A= (p.Asn266=)
c.-888+942T= (n.-888+942T=)
17g.4933400A>CCA397318687CHRNE,GP1BAc.796A>C (p.Asn266His)
c.-888+942T>G (n.-888+942T>G)
17g.4933400A>GCA397318689CHRNE,GP1BAc.796A>G (p.Asn266Asp)
c.-888+942T>C (n.-888+942T>C)
17g.4933400A>TCA8314834CHRNE,GP1BAc.796A>T (p.Asn266Tyr)
c.-888+942T>A (n.-888+942T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933401A=CA2244625545CHRNE,GP1BAc.797A= (p.Asn266=)
c.-888+941T= (n.-888+941T=)
17g.4933401A>CCA397318694CHRNE,GP1BAc.797A>C (p.Asn266Thr)
c.-888+941T>G (n.-888+941T>G)
17g.4933401A>GCA8314835CHRNE,GP1BAc.797A>G (p.Asn266Ser)
c.-888+941T>C (n.-888+941T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933401A>TCA397318692CHRNE,GP1BAc.797A>T (p.Asn266Ile)
c.-888+941T>A (n.-888+941T>A)
dbSNP
17g.4933402T>ACA397318696CHRNE,GP1BAc.798T>A (p.Asn266Lys)
c.-888+940A>T (n.-888+940A>T)
17g.4933402T>CCA497677518CHRNE,GP1BAc.798T>C (p.Asn266=)
c.-888+940A>G (n.-888+940A>G)
17g.4933402T>GCA397318698CHRNE,GP1BAc.798T>G (p.Asn266Lys)
c.-888+940A>C (n.-888+940A>C)
17g.4933403T>ACA397318702CHRNE,GP1BAc.799T>A (p.Ser267Thr)
c.-888+939A>T (n.-888+939A>T)
17g.4933403T>CCA397318704CHRNE,GP1BAc.799T>C (p.Ser267Pro)
c.-888+939A>G (n.-888+939A>G)
17g.4933403T>GCA397318706CHRNE,GP1BAc.799T>G (p.Ser267Ala)
c.-888+939A>C (n.-888+939A>C)
17g.4933404C>ACA397318709CHRNE,GP1BAc.800C>A (p.Ser267Ter)
c.-888+938G>T (n.-888+938G>T)
17g.4933404C>GCA397318711CHRNE,GP1BAc.800C>G (p.Ser267Ter)
c.-888+938G>C (n.-888+938G>C)
17g.4933404C>TCA397318713CHRNE,GP1BAc.800C>T (p.Ser267Leu)
c.-888+938G>A (n.-888+938G>A)
COSMIC
17g.4933405A>CCA497677523CHRNE,GP1BAc.801A>C (p.Ser267=)
c.-888+937T>G (n.-888+937T>G)
gnomAD v4
17g.4933405A>GCA497677526CHRNE,GP1BAc.801A>G (p.Ser267=)
c.-888+937T>C (n.-888+937T>C)
17g.4933405A>TCA497677524CHRNE,GP1BAc.801A>T (p.Ser267=)
c.-888+937T>A (n.-888+937T>A)
17g.4933406G>ACA8314836CHRNE,GP1BAc.802G>A (p.Asp268Asn)
c.-888+936C>T (n.-888+936C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933406G>CCA8314837CHRNE,GP1BAc.802G>C (p.Asp268His)
c.-888+936C>G (n.-888+936C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933406G=CA2244625546CHRNE,GP1BAc.802G= (p.Asp268=)
c.-888+936C= (n.-888+936C=)
17g.4933406G>TCA397318718CHRNE,GP1BAc.802G>T (p.Asp268Tyr)
c.-888+936C>A (n.-888+936C>A)
17g.4933407A>CCA397318721CHRNE,GP1BAc.803A>C (p.Asp268Ala)
c.-888+935T>G (n.-888+935T>G)
17g.4933407A>GCA397318724CHRNE,GP1BAc.803A>G (p.Asp268Gly)
c.-888+935T>C (n.-888+935T>C)
17g.4933407A>TCA397318725CHRNE,GP1BAc.803A>T (p.Asp268Val)
c.-888+935T>A (n.-888+935T>A)
17g.4933408C>ACA397318728CHRNE,GP1BAc.804C>A (p.Asp268Glu)
c.-888+934G>T (n.-888+934G>T)
gnomAD v4
17g.4933408C>GCA397318729CHRNE,GP1BAc.804C>G (p.Asp268Glu)
c.-888+934G>C (n.-888+934G>C)
17g.4933408C>TCA497677533CHRNE,GP1BAc.804C>T (p.Asp268=)
c.-888+934G>A (n.-888+934G>A)
17g.4933409A>CCA397318732CHRNE,GP1BAc.805A>C (p.Lys269Gln)
c.-888+933T>G (n.-888+933T>G)
17g.4933409A>GCA397318734CHRNE,GP1BAc.805A>G (p.Lys269Glu)
c.-888+933T>C (n.-888+933T>C)
17g.4933409A>TCA397318736CHRNE,GP1BAc.805A>T (p.Lys269Ter)
c.-888+933T>A (n.-888+933T>A)
17g.4933410A=CA2244625547CHRNE,GP1BAc.806A= (p.Lys269=)
c.-888+932T= (n.-888+932T=)
17g.4933410A>CCA397318739CHRNE,GP1BAc.806A>C (p.Lys269Thr)
c.-888+932T>G (n.-888+932T>G)
17g.4933410A>GCA8314838CHRNE,GP1BAc.806A>G (p.Lys269Arg)
c.-888+932T>C (n.-888+932T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933410A>TCA397318741CHRNE,GP1BAc.806A>T (p.Lys269Met)
c.-888+932T>A (n.-888+932T>A)
17g.4933411G>ACA497677537CHRNE,GP1BAc.807G>A (p.Lys269=)
c.-888+931C>T (n.-888+931C>T)
17g.4933411G>CCA397318743CHRNE,GP1BAc.807G>C (p.Lys269Asn)
c.-888+931C>G (n.-888+931C>G)
dbSNP gnomAD v2 gnomAD v4
17g.4933411G=CA2244625548CHRNE,GP1BAc.807G= (p.Lys269=)
c.-888+931C= (n.-888+931C=)
17g.4933411G>TCA397318744CHRNE,GP1BAc.807G>T (p.Lys269Asn)
c.-888+931C>A (n.-888+931C>A)
17g.4933412T>ACA8314839CHRNE,GP1BAc.808T>A (p.Phe270Ile)
c.-888+930A>T (n.-888+930A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933412T>CCA8314840CHRNE,GP1BAc.808T>C (p.Phe270Leu)
c.-888+930A>G (n.-888+930A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933412T>GCA397318750CHRNE,GP1BAc.808T>G (p.Phe270Val)
c.-888+930A>C (n.-888+930A>C)
17g.4933412T=CA2244625549CHRNE,GP1BAc.808T= (p.Phe270=)
c.-888+930A= (n.-888+930A=)
17g.4933413T>ACA397318757CHRNE,GP1BAc.809T>A (p.Phe270Tyr)
c.-888+929A>T (n.-888+929A>T)
17g.4933413T>CCA397318758CHRNE,GP1BAc.809T>C (p.Phe270Ser)
c.-888+929A>G (n.-888+929A>G)
17g.4933413T>GCA397318754CHRNE,GP1BAc.809T>G (p.Phe270Cys)
c.-888+929A>C (n.-888+929A>C)
17g.4933414T>ACA397318760CHRNE,GP1BAc.810T>A (p.Phe270Leu)
c.-888+928A>T (n.-888+928A>T)
17g.4933414T>CCA497677542CHRNE,GP1BAc.810T>C (p.Phe270=)
c.-888+928A>G (n.-888+928A>G)
17g.4933414T>GCA397318763CHRNE,GP1BAc.810T>G (p.Phe270Leu)
c.-888+928A>C (n.-888+928A>C)
17g.4933415C>ACA397318771CHRNE,GP1BAc.811C>A (p.Pro271Thr)
c.-888+927G>T (n.-888+927G>T)
17g.4933415C>GCA397318773CHRNE,GP1BAc.811C>G (p.Pro271Ala)
c.-888+927G>C (n.-888+927G>C)
gnomAD v4
17g.4933415C>TCA397318776CHRNE,GP1BAc.811C>T (p.Pro271Ser)
c.-888+927G>A (n.-888+927G>A)
17g.4933416C>ACA397318779CHRNE,GP1BAc.812C>A (p.Pro271His)
c.-888+926G>T (n.-888+926G>T)
17g.4933416C>GCA397318780CHRNE,GP1BAc.812C>G (p.Pro271Arg)
c.-888+926G>C (n.-888+926G>C)
17g.4933416C>TCA397318783CHRNE,GP1BAc.812C>T (p.Pro271Leu)
c.-888+926G>A (n.-888+926G>A)
17g.4933417C>ACA497677548CHRNE,GP1BAc.813C>A (p.Pro271=)
c.-888+925G>T (n.-888+925G>T)
17g.4933417C=CA2244625550CHRNE,GP1BAc.813C= (p.Pro271=)
c.-888+925G= (n.-888+925G=)
17g.4933417C>GCA497677549CHRNE,GP1BAc.813C>G (p.Pro271=)
c.-888+925G>C (n.-888+925G>C)
17g.4933417C>TCA8314841CHRNE,GP1BAc.813C>T (p.Pro271=)
c.-888+925G>A (n.-888+925G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933418G>ACA8314842CHRNE,GP1BAc.814G>A (p.Val272Ile)
c.-888+924C>T (n.-888+924C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933418G>CCA397318790CHRNE,GP1BAc.814G>C (p.Val272Leu)
c.-888+924C>G (n.-888+924C>G)
17g.4933418G=CA2244625551CHRNE,GP1BAc.814G= (p.Val272=)
c.-888+924C= (n.-888+924C=)
17g.4933418G>TCA397318792CHRNE,GP1BAc.814G>T (p.Val272Phe)
c.-888+924C>A (n.-888+924C>A)
17g.4933419T>ACA397318797CHRNE,GP1BAc.815T>A (p.Val272Asp)
c.-888+923A>T (n.-888+923A>T)
17g.4933419T>CCA397318800CHRNE,GP1BAc.815T>C (p.Val272Ala)
c.-888+923A>G (n.-888+923A>G)
gnomAD v4
17g.4933419T>GCA397318795CHRNE,GP1BAc.815T>G (p.Val272Gly)
c.-888+923A>C (n.-888+923A>C)
17g.4933420C>ACA497677555CHRNE,GP1BAc.816C>A (p.Val272=)
c.-888+922G>T (n.-888+922G>T)
17g.4933420C>GCA497677552CHRNE,GP1BAc.816C>G (p.Val272=)
c.-888+922G>C (n.-888+922G>C)
17g.4933420C>TCA497677553CHRNE,GP1BAc.816C>T (p.Val272=)
c.-888+922G>A (n.-888+922G>A)
17g.4933421T>ACA397318803CHRNE,GP1BAc.817T>A (p.Tyr273Asn)
c.-888+921A>T (n.-888+921A>T)
17g.4933421T>CCA397318804CHRNE,GP1BAc.817T>C (p.Tyr273His)
c.-888+921A>G (n.-888+921A>G)
17g.4933421T>GCA397318806CHRNE,GP1BAc.817T>G (p.Tyr273Asp)
c.-888+921A>C (n.-888+921A>C)
17g.4933422A>CCA397318809CHRNE,GP1BAc.818A>C (p.Tyr273Ser)
c.-888+920T>G (n.-888+920T>G)
17g.4933422A>GCA397318811CHRNE,GP1BAc.818A>G (p.Tyr273Cys)
c.-888+920T>C (n.-888+920T>C)
17g.4933422A>TCA397318814CHRNE,GP1BAc.818A>T (p.Tyr273Phe)
c.-888+920T>A (n.-888+920T>A)
17g.4933423C>ACA397318817CHRNE,GP1BAc.819C>A (p.Tyr273Ter)
c.-888+919G>T (n.-888+919G>T)
17g.4933423C=CA2244625552CHRNE,GP1BAc.819C= (p.Tyr273=)
c.-888+919G= (n.-888+919G=)
17g.4933423C>GCA397318818CHRNE,GP1BAc.819C>G (p.Tyr273Ter)
c.-888+919G>C (n.-888+919G>C)
17g.4933423C>TCA497677559CHRNE,GP1BAc.819C>T (p.Tyr273=)
c.-888+919G>A (n.-888+919G>A)
dbSNP gnomAD v3 gnomAD v4
17g.4933424A>CCA397318820CHRNE,GP1BAc.820A>C (p.Lys274Gln)
c.-888+918T>G (n.-888+918T>G)
17g.4933424A>GCA397318823CHRNE,GP1BAc.820A>G (p.Lys274Glu)
c.-888+918T>C (n.-888+918T>C)
dbSNP
17g.4933424A>TCA397318826CHRNE,GP1BAc.820A>T (p.Lys274Ter)
c.-888+918T>A (n.-888+918T>A)
17g.4933426delCA2635578885CHRNE,GP1BAc.822del (p.Lys274AsnfsTer?)
c.-888+918del (n.-888+918del)
gnomAD v4
17g.4933425A>CCA397318833CHRNE,GP1BAc.821A>C (p.Lys274Thr)
c.-888+917T>G (n.-888+917T>G)
17g.4933425A>GCA397318836CHRNE,GP1BAc.821A>G (p.Lys274Arg)
c.-888+917T>C (n.-888+917T>C)
17g.4933425A>TCA397318838CHRNE,GP1BAc.821A>T (p.Lys274Ile)
c.-888+917T>A (n.-888+917T>A)
17g.4933426A>CCA397318843CHRNE,GP1BAc.822A>C (p.Lys274Asn)
c.-888+916T>G (n.-888+916T>G)
17g.4933426A>GCA497677567CHRNE,GP1BAc.822A>G (p.Lys274=)
c.-888+916T>C (n.-888+916T>C)
17g.4933426A>TCA397318841CHRNE,GP1BAc.822A>T (p.Lys274Asn)
c.-888+916T>A (n.-888+916T>A)
17g.4933427T>ACA397318846CHRNE,GP1BAc.823T>A (p.Tyr275Asn)
c.-888+915A>T (n.-888+915A>T)
17g.4933427T>CCA397318851CHRNE,GP1BAc.823T>C (p.Tyr275His)
c.-888+915A>G (n.-888+915A>G)
gnomAD v4
17g.4933427T>GCA397318848CHRNE,GP1BAc.823T>G (p.Tyr275Asp)
c.-888+915A>C (n.-888+915A>C)
17g.4933428A>CCA397318854CHRNE,GP1BAc.824A>C (p.Tyr275Ser)
c.-888+914T>G (n.-888+914T>G)
17g.4933428A>GCA397318856CHRNE,GP1BAc.824A>G (p.Tyr275Cys)
c.-888+914T>C (n.-888+914T>C)
17g.4933428A>TCA397318858CHRNE,GP1BAc.824A>T (p.Tyr275Phe)
c.-888+914T>A (n.-888+914T>A)
17g.4933429C>ACA397318861CHRNE,GP1BAc.825C>A (p.Tyr275Ter)
c.-888+913G>T (n.-888+913G>T)
17g.4933429C>GCA397318864CHRNE,GP1BAc.825C>G (p.Tyr275Ter)
c.-888+913G>C (n.-888+913G>C)
17g.4933429C>TCA497677569CHRNE,GP1BAc.825C>T (p.Tyr275=)
c.-888+913G>A (n.-888+913G>A)
17g.4933430C>ACA397318866CHRNE,GP1BAc.826C>A (p.Pro276Thr)
c.-888+912G>T (n.-888+912G>T)
17g.4933430C=CA2244625553CHRNE,GP1BAc.826C= (p.Pro276=)
c.-888+912G= (n.-888+912G=)
17g.4933430C>GCA397318869CHRNE,GP1BAc.826C>G (p.Pro276Ala)
c.-888+912G>C (n.-888+912G>C)
17g.4933430C>TCA397318873CHRNE,GP1BAc.826C>T (p.Pro276Ser)
c.-888+912G>A (n.-888+912G>A)
dbSNP gnomAD v3 gnomAD v4
17g.4933431C>ACA397318876CHRNE,GP1BAc.827C>A (p.Pro276Gln)
c.-888+911G>T (n.-888+911G>T)
17g.4933431C>GCA397318878CHRNE,GP1BAc.827C>G (p.Pro276Arg)
c.-888+911G>C (n.-888+911G>C)
17g.4933431C>TCA397318879CHRNE,GP1BAc.827C>T (p.Pro276Leu)
c.-888+911G>A (n.-888+911G>A)
17g.4933432A>CCA497677576CHRNE,GP1BAc.828A>C (p.Pro276=)
c.-888+910T>G (n.-888+910T>G)
17g.4933432A>GCA497677578CHRNE,GP1BAc.828A>G (p.Pro276=)
c.-888+910T>C (n.-888+910T>C)
17g.4933432A>TCA497677579CHRNE,GP1BAc.828A>T (p.Pro276=)
c.-888+910T>A (n.-888+910T>A)
17g.4933433G>ACA8314843CHRNE,GP1BAc.829G>A (p.Gly277Arg)
c.-888+909C>T (n.-888+909C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933433G>CCA397318885CHRNE,GP1BAc.829G>C (p.Gly277Arg)
c.-888+909C>G (n.-888+909C>G)
17g.4933433G=CA2244625554CHRNE,GP1BAc.829G= (p.Gly277=)
c.-888+909C= (n.-888+909C=)
17g.4933433G>TCA397318882CHRNE,GP1BAc.829G>T (p.Gly277Ter)
c.-888+909C>A (n.-888+909C>A)
17g.4933434G>ACA397318889CHRNE,GP1BAc.830G>A (p.Gly277Glu)
c.-888+908C>T (n.-888+908C>T)
17g.4933434G>CCA397318891CHRNE,GP1BAc.830G>C (p.Gly277Ala)
c.-888+908C>G (n.-888+908C>G)
17g.4933434G>TCA397318894CHRNE,GP1BAc.830G>T (p.Gly277Val)
c.-888+908C>A (n.-888+908C>A)
17g.4933435A>CCA497677580CHRNE,GP1BAc.831A>C (p.Gly277=)
c.-888+907T>G (n.-888+907T>G)
17g.4933435A>GCA497677581CHRNE,GP1BAc.831A>G (p.Gly277=)
c.-888+907T>C (n.-888+907T>C)
17g.4933435A>TCA497677585CHRNE,GP1BAc.831A>T (p.Gly277=)
c.-888+907T>A (n.-888+907T>A)
17g.4933436A>CCA397318897CHRNE,GP1BAc.832A>C (p.Lys278Gln)
c.-888+906T>G (n.-888+906T>G)
17g.4933436A>GCA397318898CHRNE,GP1BAc.832A>G (p.Lys278Glu)
c.-888+906T>C (n.-888+906T>C)
17g.4933436A>TCA397318900CHRNE,GP1BAc.832A>T (p.Lys278Ter)
c.-888+906T>A (n.-888+906T>A)
17g.4933437A=CA2244625555CHRNE,GP1BAc.833A= (p.Lys278=)
c.-888+905T= (n.-888+905T=)
17g.4933437A>CCA397318904CHRNE,GP1BAc.833A>C (p.Lys278Thr)
c.-888+905T>G (n.-888+905T>G)
17g.4933437A>GCA287216638CHRNE,GP1BAc.833A>G (p.Lys278Arg)
c.-888+905T>C (n.-888+905T>C)
dbSNP gnomAD v4
17g.4933437A>TCA397318909CHRNE,GP1BAc.833A>T (p.Lys278Met)
c.-888+905T>A (n.-888+905T>A)
17g.4933438G>ACA8314844CHRNE,GP1BAc.834G>A (p.Lys278=)
c.-888+904C>T (n.-888+904C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933438G>CCA397318913CHRNE,GP1BAc.834G>C (p.Lys278Asn)
c.-888+904C>G (n.-888+904C>G)
17g.4933438G=CA2244625556CHRNE,GP1BAc.834G= (p.Lys278=)
c.-888+904C= (n.-888+904C=)
17g.4933438G>TCA397318914CHRNE,GP1BAc.834G>T (p.Lys278Asn)
c.-888+904C>A (n.-888+904C>A)
17g.4933439G>ACA397318920CHRNE,GP1BAc.835G>A (p.Gly279Arg)
c.-888+903C>T (n.-888+903C>T)
17g.4933439G>CCA397318919CHRNE,GP1BAc.835G>C (p.Gly279Arg)
c.-888+903C>G (n.-888+903C>G)
17g.4933439G>TCA397318917CHRNE,GP1BAc.835G>T (p.Gly279Trp)
c.-888+903C>A (n.-888+903C>A)
17g.4933440G>ACA397318926CHRNE,GP1BAc.836G>A (p.Gly279Glu)
c.-888+902C>T (n.-888+902C>T)
gnomAD v4
17g.4933440G>CCA397318922CHRNE,GP1BAc.836G>C (p.Gly279Ala)
c.-888+902C>G (n.-888+902C>G)
17g.4933440G=CA2244625557CHRNE,GP1BAc.836G= (p.Gly279=)
c.-888+902C= (n.-888+902C=)
17g.4933440G>TCA397318925CHRNE,GP1BAc.836G>T (p.Gly279Val)
c.-888+902C>A (n.-888+902C>A)
dbSNP gnomAD v3 gnomAD v4
17g.4933441G>ACA497677598CHRNE,GP1BAc.837G>A (p.Gly279=)
c.-888+901C>T (n.-888+901C>T)
gnomAD v4
17g.4933441G>CCA497677596CHRNE,GP1BAc.837G>C (p.Gly279=)
c.-888+901C>G (n.-888+901C>G)
17g.4933441G>TCA497677594CHRNE,GP1BAc.837G>T (p.Gly279=)
c.-888+901C>A (n.-888+901C>A)
17g.4933442T>ACA397318928CHRNE,GP1BAc.838T>A (p.Cys280Ser)
c.-888+900A>T (n.-888+900A>T)
17g.4933442T>CCA8314845CHRNE,GP1BAc.838T>C (p.Cys280Arg)
c.-888+900A>G (n.-888+900A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933442T>GCA397318930CHRNE,GP1BAc.838T>G (p.Cys280Gly)
c.-888+900A>C (n.-888+900A>C)
17g.4933442T=CA2244625558CHRNE,GP1BAc.838T= (p.Cys280=)
c.-888+900A= (n.-888+900A=)
17g.4933443G>ACA397318933CHRNE,GP1BAc.839G>A (p.Cys280Tyr)
c.-888+899C>T (n.-888+899C>T)
17g.4933443G>CCA397318935CHRNE,GP1BAc.839G>C (p.Cys280Ser)
c.-888+899C>G (n.-888+899C>G)
17g.4933443G>TCA397318938CHRNE,GP1BAc.839G>T (p.Cys280Phe)
c.-888+899C>A (n.-888+899C>A)
17g.4933444C>ACA397318941CHRNE,GP1BAc.840C>A (p.Cys280Ter)
c.-888+898G>T (n.-888+898G>T)
17g.4933444C>GCA397318943CHRNE,GP1BAc.840C>G (p.Cys280Trp)
c.-888+898G>C (n.-888+898G>C)
17g.4933444C>TCA497677604CHRNE,GP1BAc.840C>T (p.Cys280=)
c.-888+898G>A (n.-888+898G>A)
gnomAD v4
17g.4933445C>ACA397318949CHRNE,GP1BAc.841C>A (p.Pro281Thr)
c.-888+897G>T (n.-888+897G>T)
17g.4933445C=CA2244625559CHRNE,GP1BAc.841C= (p.Pro281=)
c.-888+897G= (n.-888+897G=)
17g.4933445C>GCA397318950CHRNE,GP1BAc.841C>G (p.Pro281Ala)
c.-888+897G>C (n.-888+897G>C)
17g.4933445C>TCA397318951CHRNE,GP1BAc.841C>T (p.Pro281Ser)
c.-888+897G>A (n.-888+897G>A)
dbSNP gnomAD v2 gnomAD v4
17g.4933446C>ACA397318956CHRNE,GP1BAc.842C>A (p.Pro281His)
c.-888+896G>T (n.-888+896G>T)
17g.4933446C>GCA397318953CHRNE,GP1BAc.842C>G (p.Pro281Arg)
c.-888+896G>C (n.-888+896G>C)
17g.4933446C>TCA397318955CHRNE,GP1BAc.842C>T (p.Pro281Leu)
c.-888+896G>A (n.-888+896G>A)
17g.4933447C>ACA497677607CHRNE,GP1BAc.843C>A (p.Pro281=)
c.-888+895G>T (n.-888+895G>T)
17g.4933447C>GCA497677609CHRNE,GP1BAc.843C>G (p.Pro281=)
c.-888+895G>C (n.-888+895G>C)
17g.4933447C>TCA497677608CHRNE,GP1BAc.843C>T (p.Pro281=)
c.-888+895G>A (n.-888+895G>A)
17g.4933448A>CCA397318958CHRNE,GP1BAc.844A>C (p.Thr282Pro)
c.-888+894T>G (n.-888+894T>G)
17g.4933448A>GCA397318960CHRNE,GP1BAc.844A>G (p.Thr282Ala)
c.-888+894T>C (n.-888+894T>C)
17g.4933448A>TCA397318961CHRNE,GP1BAc.844A>T (p.Thr282Ser)
c.-888+894T>A (n.-888+894T>A)
17g.4933449C>ACA397318962CHRNE,GP1BAc.845C>A (p.Thr282Asn)
c.-888+893G>T (n.-888+893G>T)
17g.4933449C>GCA397318963CHRNE,GP1BAc.845C>G (p.Thr282Ser)
c.-888+893G>C (n.-888+893G>C)
17g.4933449C>TCA397318965CHRNE,GP1BAc.845C>T (p.Thr282Ile)
c.-888+893G>A (n.-888+893G>A)
17g.4933450C>ACA497677613CHRNE,GP1BAc.846C>A (p.Thr282=)
c.-888+892G>T (n.-888+892G>T)
17g.4933450C=CA2244625560CHRNE,GP1BAc.846C= (p.Thr282=)
c.-888+892G= (n.-888+892G=)
17g.4933450C>GCA497677614CHRNE,GP1BAc.846C>G (p.Thr282=)
c.-888+892G>C (n.-888+892G>C)
17g.4933450C>TCA497677615CHRNE,GP1BAc.846C>T (p.Thr282=)
c.-888+892G>A (n.-888+892G>A)
dbSNP
17g.4933451C>ACA397318966CHRNE,GP1BAc.847C>A (p.Leu283Ile)
c.-888+891G>T (n.-888+891G>T)
17g.4933451C>GCA397318968CHRNE,GP1BAc.847C>G (p.Leu283Val)
c.-888+891G>C (n.-888+891G>C)
17g.4933451C>TCA397318970CHRNE,GP1BAc.847C>T (p.Leu283Phe)
c.-888+891G>A (n.-888+891G>A)
gnomAD v4
17g.4933452T>ACA397318971CHRNE,GP1BAc.848T>A (p.Leu283His)
c.-888+890A>T (n.-888+890A>T)
17g.4933452T>CCA397318973CHRNE,GP1BAc.848T>C (p.Leu283Pro)
c.-888+890A>G (n.-888+890A>G)
17g.4933452T>GCA397318974CHRNE,GP1BAc.848T>G (p.Leu283Arg)
c.-888+890A>C (n.-888+890A>C)
17g.4933453T>ACA497677618CHRNE,GP1BAc.849T>A (p.Leu283=)
c.-888+889A>T (n.-888+889A>T)
17g.4933453T>CCA287216647CHRNE,GP1BAc.849T>C (p.Leu283=)
c.-888+889A>G (n.-888+889A>G)
dbSNP
17g.4933453T>GCA497677619CHRNE,GP1BAc.849T>G (p.Leu283=)
c.-888+889A>C (n.-888+889A>C)
17g.4933453T=CA2244625561CHRNE,GP1BAc.849T= (p.Leu283=)
c.-888+889A= (n.-888+889A=)
17g.4933454G>ACA397318980CHRNE,GP1BAc.850G>A (p.Gly284Ser)
c.-888+888C>T (n.-888+888C>T)
17g.4933454G>CCA397318982CHRNE,GP1BAc.850G>C (p.Gly284Arg)
c.-888+888C>G (n.-888+888C>G)
17g.4933454G>TCA397318979CHRNE,GP1BAc.850G>T (p.Gly284Cys)
c.-888+888C>A (n.-888+888C>A)
17g.4933455G>ACA397318983CHRNE,GP1BAc.851G>A (p.Gly284Asp)
c.-888+887C>T (n.-888+887C>T)
17g.4933455G>CCA397318986CHRNE,GP1BAc.851G>C (p.Gly284Ala)
c.-888+887C>G (n.-888+887C>G)
17g.4933455G>TCA397318985CHRNE,GP1BAc.851G>T (p.Gly284Val)
c.-888+887C>A (n.-888+887C>A)
17g.4933456T>ACA497677626CHRNE,GP1BAc.852T>A (p.Gly284=)
c.-888+886A>T (n.-888+886A>T)
17g.4933456T>CCA497677628CHRNE,GP1BAc.852T>C (p.Gly284=)
c.-888+886A>G (n.-888+886A>G)
17g.4933456T>GCA497677629CHRNE,GP1BAc.852T>G (p.Gly284=)
c.-888+886A>C (n.-888+886A>C)
17g.4933457G>ACA397318987CHRNE,GP1BAc.853G>A (p.Asp285Asn)
c.-888+885C>T (n.-888+885C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933457G>CCA397318989CHRNE,GP1BAc.853G>C (p.Asp285His)
c.-888+885C>G (n.-888+885C>G)
17g.4933457G=CA2244625562CHRNE,GP1BAc.853G= (p.Asp285=)
c.-888+885C= (n.-888+885C=)
17g.4933457G>TCA397318991CHRNE,GP1BAc.853G>T (p.Asp285Tyr)
c.-888+885C>A (n.-888+885C>A)
17g.4933458A=CA2244625563CHRNE,GP1BAc.854A= (p.Asp285=)
c.-888+884T= (n.-888+884T=)
17g.4933458A>CCA8314846CHRNE,GP1BAc.854A>C (p.Asp285Ala)
c.-888+884T>G (n.-888+884T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933458A>GCA397318994CHRNE,GP1BAc.854A>G (p.Asp285Gly)
c.-888+884T>C (n.-888+884T>C)
dbSNP
17g.4933458A>TCA397318996CHRNE,GP1BAc.854A>T (p.Asp285Val)
c.-888+884T>A (n.-888+884T>A)
17g.4933459T>ACA397318998CHRNE,GP1BAc.855T>A (p.Asp285Glu)
c.-888+883A>T (n.-888+883A>T)
17g.4933459T>CCA497677636CHRNE,GP1BAc.855T>C (p.Asp285=)
c.-888+883A>G (n.-888+883A>G)
17g.4933459T>GCA397319000CHRNE,GP1BAc.855T>G (p.Asp285Glu)
c.-888+883A>C (n.-888+883A>C)
17g.4933460G>ACA397319001CHRNE,GP1BAc.856G>A (p.Glu286Lys)
c.-888+882C>T (n.-888+882C>T)
gnomAD v4
17g.4933460G>CCA397319002CHRNE,GP1BAc.856G>C (p.Glu286Gln)
c.-888+882C>G (n.-888+882C>G)
17g.4933460G>TCA397319004CHRNE,GP1BAc.856G>T (p.Glu286Ter)
c.-888+882C>A (n.-888+882C>A)
COSMIC
17g.4933461A>CCA397319009CHRNE,GP1BAc.857A>C (p.Glu286Ala)
c.-888+881T>G (n.-888+881T>G)
17g.4933461A>GCA397319007CHRNE,GP1BAc.857A>G (p.Glu286Gly)
c.-888+881T>C (n.-888+881T>C)
17g.4933461A>TCA397319005CHRNE,GP1BAc.857A>T (p.Glu286Val)
c.-888+881T>A (n.-888+881T>A)
17g.4933462A>CCA397319011CHRNE,GP1BAc.858A>C (p.Glu286Asp)
c.-888+880T>G (n.-888+880T>G)
17g.4933462A>GCA497677638CHRNE,GP1BAc.858A>G (p.Glu286=)
c.-888+880T>C (n.-888+880T>C)
17g.4933462A>TCA397319012CHRNE,GP1BAc.858A>T (p.Glu286Asp)
c.-888+880T>A (n.-888+880T>A)
17g.4933463G>ACA397319014CHRNE,GP1BAc.859G>A (p.Gly287Ser)
c.-888+879C>T (n.-888+879C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933463G>CCA397319016CHRNE,GP1BAc.859G>C (p.Gly287Arg)
c.-888+879C>G (n.-888+879C>G)
17g.4933463G=CA2244625564CHRNE,GP1BAc.859G= (p.Gly287=)
c.-888+879C= (n.-888+879C=)
17g.4933463G>TCA397319017CHRNE,GP1BAc.859G>T (p.Gly287Cys)
c.-888+879C>A (n.-888+879C>A)
17g.4933464G>ACA397319020CHRNE,GP1BAc.860G>A (p.Gly287Asp)
c.-888+878C>T (n.-888+878C>T)
dbSNP gnomAD v2 gnomAD v4
17g.4933464G>CCA397319022CHRNE,GP1BAc.860G>C (p.Gly287Ala)
c.-888+878C>G (n.-888+878C>G)
17g.4933464G=CA2244625565CHRNE,GP1BAc.860G= (p.Gly287=)
c.-888+878C= (n.-888+878C=)
17g.4933464G>TCA397319023CHRNE,GP1BAc.860G>T (p.Gly287Val)
c.-888+878C>A (n.-888+878C>A)
17g.4933465T>ACA497677642CHRNE,GP1BAc.861T>A (p.Gly287=)
c.-888+877A>T (n.-888+877A>T)
17g.4933465T>CCA497677644CHRNE,GP1BAc.861T>C (p.Gly287=)
c.-888+877A>G (n.-888+877A>G)
17g.4933465T>GCA497677646CHRNE,GP1BAc.861T>G (p.Gly287=)
c.-888+877A>C (n.-888+877A>C)
17g.4933466G>ACA397319025CHRNE,GP1BAc.862G>A (p.Asp288Asn)
c.-888+876C>T (n.-888+876C>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.4933466G>CCA397319027CHRNE,GP1BAc.862G>C (p.Asp288His)
c.-888+876C>G (n.-888+876C>G)
17g.4933466G=CA2244625566CHRNE,GP1BAc.862G= (p.Asp288=)
c.-888+876C= (n.-888+876C=)
17g.4933466G>TCA397319029CHRNE,GP1BAc.862G>T (p.Asp288Tyr)
c.-888+876C>A (n.-888+876C>A)
17g.4933467A>CCA397319034CHRNE,GP1BAc.863A>C (p.Asp288Ala)
c.-888+875T>G (n.-888+875T>G)
17g.4933467A>GCA397319032CHRNE,GP1BAc.863A>G (p.Asp288Gly)
c.-888+875T>C (n.-888+875T>C)
17g.4933467A>TCA397319030CHRNE,GP1BAc.863A>T (p.Asp288Val)
c.-888+875T>A (n.-888+875T>A)
17g.4933468C>ACA397319036CHRNE,GP1BAc.864C>A (p.Asp288Glu)
c.-888+874G>T (n.-888+874G>T)
17g.4933468C>GCA397319037CHRNE,GP1BAc.864C>G (p.Asp288Glu)
c.-888+874G>C (n.-888+874G>C)
17g.4933468C>TCA497677989CHRNE,GP1BAc.864C>T (p.Asp288=)
c.-888+874G>A (n.-888+874G>A)
gnomAD v4
17g.4933469A=CA2244625567CHRNE,GP1BAc.865A= (p.Thr289=)
c.-888+873T= (n.-888+873T=)
17g.4933469A>CCA397319039CHRNE,GP1BAc.865A>C (p.Thr289Pro)
c.-888+873T>G (n.-888+873T>G)
dbSNP gnomAD v2 gnomAD v4
17g.4933469A>GCA397319041CHRNE,GP1BAc.865A>G (p.Thr289Ala)
c.-888+873T>C (n.-888+873T>C)
17g.4933469A>TCA397319043CHRNE,GP1BAc.865A>T (p.Thr289Ser)
c.-888+873T>A (n.-888+873T>A)
17g.4933470C>ACA397319045CHRNE,GP1BAc.866C>A (p.Thr289Lys)
c.-888+872G>T (n.-888+872G>T)
gnomAD v4
17g.4933470C>GCA397319047CHRNE,GP1BAc.866C>G (p.Thr289Arg)
c.-888+872G>C (n.-888+872G>C)
17g.4933470C>TCA397319049CHRNE,GP1BAc.866C>T (p.Thr289Ile)
c.-888+872G>A (n.-888+872G>A)
gnomAD v4
17g.4933471A>CCA497678003CHRNE,GP1BAc.867A>C (p.Thr289=)
c.-888+871T>G (n.-888+871T>G)
17g.4933471A>GCA497678001CHRNE,GP1BAc.867A>G (p.Thr289=)
c.-888+871T>C (n.-888+871T>C)
17g.4933471A>TCA497677998CHRNE,GP1BAc.867A>T (p.Thr289=)
c.-888+871T>A (n.-888+871T>A)
17g.4933472G>ACA397319051CHRNE,GP1BAc.868G>A (p.Asp290Asn)
c.-888+870C>T (n.-888+870C>T)
gnomAD v4
17g.4933472G>CCA397319052CHRNE,GP1BAc.868G>C (p.Asp290His)
c.-888+870C>G (n.-888+870C>G)
17g.4933472G=CA2244625568CHRNE,GP1BAc.868G= (p.Asp290=)
c.-888+870C= (n.-888+870C=)
17g.4933472G>TCA8314847CHRNE,GP1BAc.868G>T (p.Asp290Tyr)
c.-888+870C>A (n.-888+870C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933473A=CA2244625569CHRNE,GP1BAc.869A= (p.Asp290=)
c.-888+869T= (n.-888+869T=)
17g.4933473A>CCA397319054CHRNE,GP1BAc.869A>C (p.Asp290Ala)
c.-888+869T>G (n.-888+869T>G)
dbSNP gnomAD v2
17g.4933473A>GCA397319056CHRNE,GP1BAc.869A>G (p.Asp290Gly)
c.-888+869T>C (n.-888+869T>C)
17g.4933473A>TCA397319057CHRNE,GP1BAc.869A>T (p.Asp290Val)
c.-888+869T>A (n.-888+869T>A)
17g.4933474C>ACA8314848CHRNE,GP1BAc.870C>A (p.Asp290Glu)
c.-888+868G>T (n.-888+868G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.4933474C=CA2244625570CHRNE,GP1BAc.870C= (p.Asp290=)
c.-888+868G= (n.-888+868G=)
17g.4933474C>GCA397319060CHRNE,GP1BAc.870C>G (p.Asp290Glu)
c.-888+868G>C (n.-888+868G>C)
17g.4933474C>TCA497678007CHRNE,GP1BAc.870C>T (p.Asp290=)
c.-888+868G>A (n.-888+868G>A)
dbSNP gnomAD v3 gnomAD v4
17g.4933475C>ACA397319062CHRNE,GP1BAc.871C>A (p.Leu291Ile)
c.-888+867G>T (n.-888+867G>T)
17g.4933475C=CA2244625571CHRNE,GP1BAc.871C= (p.Leu291=)
c.-888+867G= (n.-888+867G=)
17g.4933475C>GCA8314849CHRNE,GP1BAc.871C>G (p.Leu291Val)
c.-888+867G>C (n.-888+867G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933475C>TCA497678011CHRNE,GP1BAc.871C>T (p.Leu291=)
c.-888+867G>A (n.-888+867G>A)
dbSNP gnomAD v2 gnomAD v4
17g.4933476T>ACA397319065CHRNE,GP1BAc.872T>A (p.Leu291Gln)
c.-888+866A>T (n.-888+866A>T)
17g.4933476T>CCA397319066CHRNE,GP1BAc.872T>C (p.Leu291Pro)
c.-888+866A>G (n.-888+866A>G)
17g.4933476T>GCA397319068CHRNE,GP1BAc.872T>G (p.Leu291Arg)
c.-888+866A>C (n.-888+866A>C)
17g.4933477A=CA2244625572CHRNE,GP1BAc.873A= (p.Leu291=)
c.-888+865T= (n.-888+865T=)
17g.4933477A>CCA497678015CHRNE,GP1BAc.873A>C (p.Leu291=)
c.-888+865T>G (n.-888+865T>G)
17g.4933477A>GCA8314850CHRNE,GP1BAc.873A>G (p.Leu291=)
c.-888+865T>C (n.-888+865T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.4933477A>TCA497678016CHRNE,GP1BAc.873A>T (p.Leu291=)
c.-888+865T>A (n.-888+865T>A)
17g.4933478T>ACA397319071CHRNE,GP1BAc.874T>A (p.Tyr292Asn)
c.-888+864A>T (n.-888+864A>T)
17g.4933478T>CCA287216676CHRNE,GP1BAc.874T>C (p.Tyr292His)
c.-888+864A>G (n.-888+864A>G)
dbSNP gnomAD v4
17g.4933478T>GCA397319073CHRNE,GP1BAc.874T>G (p.Tyr292Asp)
c.-888+864A>C (n.-888+864A>C)
17g.4933478T=CA2244625573CHRNE,GP1BAc.874T= (p.Tyr292=)
c.-888+864A= (n.-888+864A=)
17g.4933479A>CCA397319076CHRNE,GP1BAc.875A>C (p.Tyr292Ser)
c.-888+863T>G (n.-888+863T>G)
17g.4933479A>GCA397319077CHRNE,GP1BAc.875A>G (p.Tyr292Cys)
c.-888+863T>C (n.-888+863T>C)
gnomAD v4
17g.4933479A>TCA397319078CHRNE,GP1BAc.875A>T (p.Tyr292Phe)
c.-888+863T>A (n.-888+863T>A)
17g.4933480T>ACA397319080CHRNE,GP1BAc.876T>A (p.Tyr292Ter)
c.-888+862A>T (n.-888+862A>T)
gnomAD v4
17g.4933480T>CCA497678022CHRNE,GP1BAc.876T>C (p.Tyr292=)
c.-888+862A>G (n.-888+862A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.4933480T>GCA397319079CHRNE,GP1BAc.876T>G (p.Tyr292Ter)
c.-888+862A>C (n.-888+862A>C)
17g.4933480T=CA2244625574CHRNE,GP1BAc.876T= (p.Tyr292=)
c.-888+862A= (n.-888+862A=)
17g.4933481G>ACA397319083CHRNE,GP1BAc.877G>A (p.Asp293Asn)
c.-888+861C>T (n.-888+861C>T)
17g.4933481G>CCA397319086CHRNE,GP1BAc.877G>C (p.Asp293His)
c.-888+861C>G (n.-888+861C>G)
17g.4933481G>TCA397319084CHRNE,GP1BAc.877G>T (p.Asp293Tyr)
c.-888+861C>A (n.-888+861C>A)
17g.4933482A>CCA397319087CHRNE,GP1BAc.878A>C (p.Asp293Ala)
c.-888+860T>G (n.-888+860T>G)
17g.4933482A>GCA397319088CHRNE,GP1BAc.878A>G (p.Asp293Gly)
c.-888+860T>C (n.-888+860T>C)
17g.4933482A>TCA397319089CHRNE,GP1BAc.878A>T (p.Asp293Val)
c.-888+860T>A (n.-888+860T>A)
17g.4933483T>ACA397319091CHRNE,GP1BAc.879T>A (p.Asp293Glu)
c.-888+859A>T (n.-888+859A>T)
17g.4933483T>CCA497678033CHRNE,GP1BAc.879T>C (p.Asp293=)
c.-888+859A>G (n.-888+859A>G)
17g.4933483T>GCA397319092CHRNE,GP1BAc.879T>G (p.Asp293Glu)
c.-888+859A>C (n.-888+859A>C)
17g.4933484T>ACA397319094CHRNE,GP1BAc.880T>A (p.Tyr294Asn)
c.-888+858A>T (n.-888+858A>T)
17g.4933484T>CCA397319095CHRNE,GP1BAc.880T>C (p.Tyr294His)
c.-888+858A>G (n.-888+858A>G)
dbSNP gnomAD v4
17g.4933484T>GCA397319097CHRNE,GP1BAc.880T>G (p.Tyr294Asp)
c.-888+858A>C (n.-888+858A>C)
17g.4933484T=CA2244625575CHRNE,GP1BAc.880T= (p.Tyr294=)
c.-888+858A= (n.-888+858A=)
17g.4933485A=CA2244625576CHRNE,GP1BAc.881A= (p.Tyr294=)
c.-888+857T= (n.-888+857T=)
17g.4933485A>CCA397319098CHRNE,GP1BAc.881A>C (p.Tyr294Ser)
c.-888+857T>G (n.-888+857T>G)
dbSNP gnomAD v2 gnomAD v4
17g.4933485A>GCA397319099CHRNE,GP1BAc.881A>G (p.Tyr294Cys)
c.-888+857T>C (n.-888+857T>C)
17g.4933485A>TCA397319101CHRNE,GP1BAc.881A>T (p.Tyr294Phe)
c.-888+857T>A (n.-888+857T>A)

Number of alleles fetched