Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99862364_99862498delinsTATTACATCA2697552540AGLc.401_460+75delinsTATTACAT
n.612_671+75delinsTATTACAT
c.353_412+75delinsTATTACAT
c.350_409+75delinsTATTACAT
 ClinVar
1g.99862373_99862376delCA419095831AGLc.410_413del (p.Leu137TyrfsTer20)
n.621_624del
c.362_365del (p.Leu121TyrfsTer20)
c.359_362del (p.Leu120TyrfsTer20)
 ClinVar dbSNP gnomAD v4
1g.99862375G>ACA966158AGLc.412G>A (p.Gly138Arg)
n.623G>A
c.364G>A (p.Gly122Arg)
c.361G>A (p.Gly121Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862375G>CCA341332261AGLc.412G>C (p.Gly138Arg)
n.623G>C
c.364G>C (p.Gly122Arg)
c.361G>C (p.Gly121Arg)
1g.99862375G=CA1148432147AGLc.412G= (p.Gly138=)
n.623G=
c.364G= (p.Gly122=)
c.361G= (p.Gly121=)
1g.99862375G>TCA341332273AGLc.412G>T (p.Gly138Ter)
n.623G>T
c.364G>T (p.Gly122Ter)
c.361G>T (p.Gly121Ter)
1g.99862376G>ACA27561409AGLc.413G>A (p.Gly138Glu)
n.624G>A
c.365G>A (p.Gly122Glu)
c.362G>A (p.Gly121Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862376G>CCA341332288AGLc.413G>C (p.Gly138Ala)
n.624G>C
c.365G>C (p.Gly122Ala)
c.362G>C (p.Gly121Ala)
1g.99862376G=CA1183924492AGLc.413G= (p.Gly138=)
n.624G=
c.365G= (p.Gly122=)
c.362G= (p.Gly121=)
1g.99862376G>TCA341332290AGLc.413G>T (p.Gly138Val)
n.624G>T
c.365G>T (p.Gly122Val)
c.362G>T (p.Gly121Val)
1g.99862377A>CCA419095839AGLc.414A>C (p.Gly138=)
n.625A>C
c.366A>C (p.Gly122=)
c.363A>C (p.Gly121=)
1g.99862377A>GCA419095840AGLc.414A>G (p.Gly138=)
n.625A>G
c.366A>G (p.Gly122=)
c.363A>G (p.Gly121=)
 ClinVar
1g.99862377A>TCA419095841AGLc.414A>T (p.Gly138=)
n.625A>T
c.366A>T (p.Gly122=)
c.363A>T (p.Gly121=)
 gnomAD v4
1g.99862378C>ACA341332298AGLc.415C>A (p.Pro139Thr)
n.626C>A
c.367C>A (p.Pro123Thr)
c.364C>A (p.Pro122Thr)
1g.99862378C>GCA341332301AGLc.415C>G (p.Pro139Ala)
n.626C>G
c.367C>G (p.Pro123Ala)
c.364C>G (p.Pro122Ala)
1g.99862378C>TCA341332310AGLc.415C>T (p.Pro139Ser)
n.626C>T
c.367C>T (p.Pro123Ser)
c.364C>T (p.Pro122Ser)
1g.99862379C>ACA341332332AGLc.416C>A (p.Pro139His)
n.627C>A
c.368C>A (p.Pro123His)
c.365C>A (p.Pro122His)
1g.99862379C>GCA341332339AGLc.416C>G (p.Pro139Arg)
n.627C>G
c.368C>G (p.Pro123Arg)
c.365C>G (p.Pro122Arg)
1g.99862379C>TCA341332321AGLc.416C>T (p.Pro139Leu)
n.627C>T
c.368C>T (p.Pro123Leu)
c.365C>T (p.Pro122Leu)
 COSMIC
1g.99862379_99862380delinsCTCA1183924493AGLc.416_417delinsCT (p.Pro139=)
n.627_628delinsCT
c.368_369delinsCT (p.Pro123=)
c.365_366delinsCT (p.Pro122=)
1g.99862380T>ACA419095846AGLc.417T>A (p.Pro139=)
n.628T>A
c.369T>A (p.Pro123=)
c.366T>A (p.Pro122=)
1g.99862380T>CCA419095845AGLc.417T>C (p.Pro139=)
n.628T>C
c.369T>C (p.Pro123=)
c.366T>C (p.Pro122=)
1g.99862380T>GCA419095844AGLc.417T>G (p.Pro139=)
n.628T>G
c.369T>G (p.Pro123=)
c.366T>G (p.Pro122=)
1g.99862383delCA524878373AGLc.420del (p.Phe140LeufsTer18)
n.631del
c.372del (p.Phe124LeufsTer18)
c.369del (p.Phe123LeufsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99862381T>ACA341332354AGLc.418T>A (p.Phe140Ile)
n.629T>A
c.370T>A (p.Phe124Ile)
c.367T>A (p.Phe123Ile)
1g.99862381T>CCA341332347AGLc.418T>C (p.Phe140Leu)
n.629T>C
c.370T>C (p.Phe124Leu)
c.367T>C (p.Phe123Leu)
1g.99862381T>GCA341332359AGLc.418T>G (p.Phe140Val)
n.629T>G
c.370T>G (p.Phe124Val)
c.367T>G (p.Phe123Val)
1g.99862382T>ACA341332362AGLc.419T>A (p.Phe140Tyr)
n.630T>A
c.371T>A (p.Phe124Tyr)
c.368T>A (p.Phe123Tyr)
1g.99862382T>CCA341332365AGLc.419T>C (p.Phe140Ser)
n.630T>C
c.371T>C (p.Phe124Ser)
c.368T>C (p.Phe123Ser)
1g.99862382T>GCA341332366AGLc.419T>G (p.Phe140Cys)
n.630T>G
c.371T>G (p.Phe124Cys)
c.368T>G (p.Phe123Cys)
1g.99862382_99862385delinsTTGACA1183924502AGLc.419_422delinsTTGA (p.Phe140=)
n.630_633delinsTTGA
c.371_374delinsTTGA (p.Phe124=)
c.368_371delinsTTGA (p.Phe123=)
1g.99862383_99862386delCA913046862AGLc.420_423del (p.Phe140LeufsTer17)
n.631_634del
c.372_375del (p.Phe124LeufsTer17)
c.369_372del (p.Phe123LeufsTer17)
1g.99862383T>ACA341332369AGLc.420T>A (p.Phe140Leu)
n.631T>A
c.372T>A (p.Phe124Leu)
c.369T>A (p.Phe123Leu)
1g.99862383T>CCA419095848AGLc.420T>C (p.Phe140=)
n.631T>C
c.372T>C (p.Phe124=)
c.369T>C (p.Phe123=)
1g.99862383T>GCA341332375AGLc.420T>G (p.Phe140Leu)
n.631T>G
c.372T>G (p.Phe124Leu)
c.369T>G (p.Phe123Leu)
1g.99862386_99862388delCA524878374AGLc.423_425del (p.Asp141del)
n.634_636del
c.375_377del (p.Asp125del)
c.372_374del (p.Asp124del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862384G>ACA341332385AGLc.421G>A (p.Asp141Asn)
n.632G>A
c.373G>A (p.Asp125Asn)
c.370G>A (p.Asp124Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.99862384G>CCA341332391AGLc.421G>C (p.Asp141His)
n.632G>C
c.373G>C (p.Asp125His)
c.370G>C (p.Asp124His)
1g.99862384G=CA1183924509AGLc.421G= (p.Asp141=)
n.632G=
c.373G= (p.Asp125=)
c.370G= (p.Asp124=)
1g.99862384G>TCA341332403AGLc.421G>T (p.Asp141Tyr)
n.632G>T
c.373G>T (p.Asp125Tyr)
c.370G>T (p.Asp124Tyr)
 gnomAD v4
1g.99862385A=CA1183924512AGLc.422A= (p.Asp141=)
n.633A=
c.374A= (p.Asp125=)
c.371A= (p.Asp124=)
1g.99862385A>CCA341332409AGLc.422A>C (p.Asp141Ala)
n.633A>C
c.374A>C (p.Asp125Ala)
c.371A>C (p.Asp124Ala)
 gnomAD v4
1g.99862385A>GCA966159AGLc.422A>G (p.Asp141Gly)
n.633A>G
c.374A>G (p.Asp125Gly)
c.371A>G (p.Asp124Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862385A>TCA341332414AGLc.422A>T (p.Asp141Val)
n.633A>T
c.374A>T (p.Asp125Val)
c.371A>T (p.Asp124Val)
1g.99862386T>ACA341332418AGLc.423T>A (p.Asp141Glu)
n.634T>A
c.375T>A (p.Asp125Glu)
c.372T>A (p.Asp124Glu)
1g.99862386T>CCA419095858AGLc.423T>C (p.Asp141=)
n.634T>C
c.375T>C (p.Asp125=)
c.372T>C (p.Asp124=)
1g.99862386T>GCA341332425AGLc.423T>G (p.Asp141Glu)
n.634T>G
c.375T>G (p.Asp125Glu)
c.372T>G (p.Asp124Glu)
1g.99862387G>ACA341332427AGLc.424G>A (p.Glu142Lys)
n.635G>A
c.376G>A (p.Glu126Lys)
c.373G>A (p.Glu125Lys)
1g.99862387G>CCA341332432AGLc.424G>C (p.Glu142Gln)
n.635G>C
c.376G>C (p.Glu126Gln)
c.373G>C (p.Glu125Gln)
1g.99862387G>TCA341332428AGLc.424G>T (p.Glu142Ter)
n.635G>T
c.376G>T (p.Glu126Ter)
c.373G>T (p.Glu125Ter)
1g.99862388A>CCA341332445AGLc.425A>C (p.Glu142Ala)
n.636A>C
c.377A>C (p.Glu126Ala)
c.374A>C (p.Glu125Ala)
1g.99862388A>GCA341332447AGLc.425A>G (p.Glu142Gly)
n.636A>G
c.377A>G (p.Glu126Gly)
c.374A>G (p.Glu125Gly)
1g.99862388A>TCA341332462AGLc.425A>T (p.Glu142Val)
n.636A>T
c.377A>T (p.Glu126Val)
c.374A>T (p.Glu125Val)
1g.99862389A>CCA341332468AGLc.426A>C (p.Glu142Asp)
n.637A>C
c.378A>C (p.Glu126Asp)
c.375A>C (p.Glu125Asp)
1g.99862389A>GCA419095866AGLc.426A>G (p.Glu142=)
n.637A>G
c.378A>G (p.Glu126=)
c.375A>G (p.Glu125=)
1g.99862389A>TCA341332471AGLc.426A>T (p.Glu142Asp)
n.637A>T
c.378A>T (p.Glu126Asp)
c.375A>T (p.Glu125Asp)
1g.99862390T>ACA341332482AGLc.427T>A (p.Trp143Arg)
n.638T>A
c.379T>A (p.Trp127Arg)
c.376T>A (p.Trp126Arg)
1g.99862390T>CCA341332483AGLc.427T>C (p.Trp143Arg)
n.638T>C
c.379T>C (p.Trp127Arg)
c.376T>C (p.Trp126Arg)
1g.99862390T>GCA341332484AGLc.427T>G (p.Trp143Gly)
n.638T>G
c.379T>G (p.Trp127Gly)
c.376T>G (p.Trp126Gly)
1g.99862391G>ACA10575460AGLc.428G>A (p.Trp143Ter)
n.639G>A
c.380G>A (p.Trp127Ter)
c.377G>A (p.Trp126Ter)
1g.99862391G>CCA341332487AGLc.428G>C (p.Trp143Ser)
n.639G>C
c.380G>C (p.Trp127Ser)
c.377G>C (p.Trp126Ser)
1g.99862391G=CA1183924516AGLc.428G= (p.Trp143=)
n.639G=
c.380G= (p.Trp127=)
c.377G= (p.Trp126=)
1g.99862391G>TCA966160AGLc.428G>T (p.Trp143Leu)
n.639G>T
c.380G>T (p.Trp127Leu)
c.377G>T (p.Trp126Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862392G>ACA341332508AGLc.429G>A (p.Trp143Ter)
n.640G>A
c.381G>A (p.Trp127Ter)
c.378G>A (p.Trp126Ter)
1g.99862392G>CCA341332504AGLc.429G>C (p.Trp143Cys)
n.640G>C
c.381G>C (p.Trp127Cys)
c.378G>C (p.Trp126Cys)
1g.99862392G>TCA341332498AGLc.429G>T (p.Trp143Cys)
n.640G>T
c.381G>T (p.Trp127Cys)
c.378G>T (p.Trp126Cys)
1g.99862393G>ACA341332528AGLc.430G>A (p.Glu144Lys)
n.641G>A
c.382G>A (p.Glu128Lys)
c.379G>A (p.Glu127Lys)
 dbSNP
1g.99862393G>CCA341332513AGLc.430G>C (p.Glu144Gln)
n.641G>C
c.382G>C (p.Glu128Gln)
c.379G>C (p.Glu127Gln)
1g.99862393G=CA1183924519AGLc.430G= (p.Glu144=)
n.641G=
c.382G= (p.Glu128=)
c.379G= (p.Glu127=)
1g.99862393G>TCA341332518AGLc.430G>T (p.Glu144Ter)
n.641G>T
c.382G>T (p.Glu128Ter)
c.379G>T (p.Glu127Ter)
1g.99862394A>CCA341332533AGLc.431A>C (p.Glu144Ala)
n.642A>C
c.383A>C (p.Glu128Ala)
c.380A>C (p.Glu127Ala)
 gnomAD v4
1g.99862394A>GCA341332534AGLc.431A>G (p.Glu144Gly)
n.642A>G
c.383A>G (p.Glu128Gly)
c.380A>G (p.Glu127Gly)
1g.99862394A>TCA341332535AGLc.431A>T (p.Glu144Val)
n.642A>T
c.383A>T (p.Glu128Val)
c.380A>T (p.Glu127Val)
1g.99862395A>CCA341332549AGLc.432A>C (p.Glu144Asp)
n.643A>C
c.384A>C (p.Glu128Asp)
c.381A>C (p.Glu127Asp)
 gnomAD v4
1g.99862395A>GCA419095872AGLc.432A>G (p.Glu144=)
n.643A>G
c.384A>G (p.Glu128=)
c.381A>G (p.Glu127=)
1g.99862395A>TCA341332559AGLc.432A>T (p.Glu144Asp)
n.643A>T
c.384A>T (p.Glu128Asp)
c.381A>T (p.Glu127Asp)
1g.99862396A>CCA341332572AGLc.433A>C (p.Ser145Arg)
n.644A>C
c.385A>C (p.Ser129Arg)
c.382A>C (p.Ser128Arg)
1g.99862396A>GCA341332576AGLc.433A>G (p.Ser145Gly)
n.644A>G
c.385A>G (p.Ser129Gly)
c.382A>G (p.Ser128Gly)
1g.99862396A>TCA341332577AGLc.433A>T (p.Ser145Cys)
n.644A>T
c.385A>T (p.Ser129Cys)
c.382A>T (p.Ser128Cys)
1g.99862397G>ACA341332591AGLc.434G>A (p.Ser145Asn)
n.645G>A
c.386G>A (p.Ser129Asn)
c.383G>A (p.Ser128Asn)
1g.99862397G>CCA341332601AGLc.434G>C (p.Ser145Thr)
n.645G>C
c.386G>C (p.Ser129Thr)
c.383G>C (p.Ser128Thr)
1g.99862397G>TCA341332604AGLc.434G>T (p.Ser145Ile)
n.645G>T
c.386G>T (p.Ser129Ile)
c.383G>T (p.Ser128Ile)
1g.99862398C>ACA341332619AGLc.435C>A (p.Ser145Arg)
n.646C>A
c.387C>A (p.Ser129Arg)
c.384C>A (p.Ser128Arg)
1g.99862398C=CA1183924522AGLc.435C= (p.Ser145=)
n.646C=
c.387C= (p.Ser129=)
c.384C= (p.Ser128=)
1g.99862398C>GCA341332613AGLc.435C>G (p.Ser145Arg)
n.646C>G
c.387C>G (p.Ser129Arg)
c.384C>G (p.Ser128Arg)
1g.99862398C>TCA419095873AGLc.435C>T (p.Ser145=)
n.646C>T
c.387C>T (p.Ser129=)
c.384C>T (p.Ser128=)
1g.99862399A>CCA419095874AGLc.436A>C (p.Arg146=)
n.647A>C
c.388A>C (p.Arg130=)
c.385A>C (p.Arg129=)
1g.99862399A>GCA341332625AGLc.436A>G (p.Arg146Gly)
n.647A>G
c.388A>G (p.Arg130Gly)
c.385A>G (p.Arg129Gly)
1g.99862399A>TCA341332626AGLc.436A>T (p.Arg146Ter)
n.647A>T
c.388A>T (p.Arg130Ter)
c.385A>T (p.Arg129Ter)
1g.99862399dupCA1183924523AGLc.436dup (p.Arg146LysfsTer3)
n.647dup
c.388dup (p.Arg130LysfsTer3)
c.385dup (p.Arg129LysfsTer3)
 ClinVar dbSNP
1g.99862399_99862400delinsAGCA1183924524AGLc.436_437delinsAG (p.Arg146=)
n.647_648delinsAG
c.388_389delinsAG (p.Arg130=)
c.385_386delinsAG (p.Arg129=)
1g.99862400delCA16040825AGLc.437del (p.Arg146AsnfsTer12)
n.648del
c.389del (p.Arg130AsnfsTer12)
c.386del (p.Arg129AsnfsTer12)
 ClinVar dbSNP
1g.99862400G>ACA341332628AGLc.437G>A (p.Arg146Lys)
n.648G>A
c.389G>A (p.Arg130Lys)
c.386G>A (p.Arg129Lys)
1g.99862400G>CCA341332632AGLc.437G>C (p.Arg146Thr)
n.648G>C
c.389G>C (p.Arg130Thr)
c.386G>C (p.Arg129Thr)
1g.99862400G>TCA341332657AGLc.437G>T (p.Arg146Ile)
n.648G>T
c.389G>T (p.Arg130Ile)
c.386G>T (p.Arg129Ile)
 ClinVar
1g.99862401A=CA1183924530AGLc.438A= (p.Arg146=)
n.649A=
c.390A= (p.Arg130=)
c.387A= (p.Arg129=)
1g.99862401A>CCA341332679AGLc.438A>C (p.Arg146Ser)
n.649A>C
c.390A>C (p.Arg130Ser)
c.387A>C (p.Arg129Ser)
1g.99862401A>GCA419095875AGLc.438A>G (p.Arg146=)
n.649A>G
c.390A>G (p.Arg130=)
c.387A>G (p.Arg129=)
1g.99862401A>TCA341332681AGLc.438A>T (p.Arg146Ser)
n.649A>T
c.390A>T (p.Arg130Ser)
c.387A>T (p.Arg129Ser)
 dbSNP
1g.99862402C>ACA341332684AGLc.439C>A (p.Leu147Ile)
n.650C>A
c.391C>A (p.Leu131Ile)
c.388C>A (p.Leu130Ile)
1g.99862402C=CA1183924532AGLc.439C= (p.Leu147=)
n.650C=
c.391C= (p.Leu131=)
c.388C= (p.Leu130=)
1g.99862402C>GCA341332694AGLc.439C>G (p.Leu147Val)
n.650C>G
c.391C>G (p.Leu131Val)
c.388C>G (p.Leu130Val)
1g.99862402C>TCA341332701AGLc.439C>T (p.Leu147Phe)
n.650C>T
c.391C>T (p.Leu131Phe)
c.388C>T (p.Leu130Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.99862402_99862404delinsCTTCA1183924534AGLc.439_441delinsCTT (p.Leu147=)
n.650_652delinsCTT
c.391_393delinsCTT (p.Leu131=)
c.388_390delinsCTT (p.Leu130=)
1g.99862403T>ACA341332707AGLc.440T>A (p.Leu147His)
n.651T>A
c.392T>A (p.Leu131His)
c.389T>A (p.Leu130His)
1g.99862403T>CCA341332714AGLc.440T>C (p.Leu147Pro)
n.651T>C
c.392T>C (p.Leu131Pro)
c.389T>C (p.Leu130Pro)
1g.99862403T>GCA341332717AGLc.440T>G (p.Leu147Arg)
n.651T>G
c.392T>G (p.Leu131Arg)
c.389T>G (p.Leu130Arg)
1g.99862403_99862404delCA524878375AGLc.440_441del (p.Leu147GlnfsTer23)
n.651_652del
c.392_393del (p.Leu131GlnfsTer23)
c.389_390del (p.Leu130GlnfsTer23)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99862404T>ACA419095877AGLc.441T>A (p.Leu147=)
n.652T>A
c.393T>A (p.Leu131=)
c.390T>A (p.Leu130=)
1g.99862404T>CCA419095878AGLc.441T>C (p.Leu147=)
n.652T>C
c.393T>C (p.Leu131=)
c.390T>C (p.Leu130=)
1g.99862404T>GCA419095879AGLc.441T>G (p.Leu147=)
n.652T>G
c.393T>G (p.Leu131=)
c.390T>G (p.Leu130=)
 gnomAD v4
1g.99862404_99862405delinsTACA1183924542AGLc.441_442delinsTA (p.Leu147=)
n.652_653delinsTA
c.393_394delinsTA (p.Leu131=)
c.390_391delinsTA (p.Leu130=)
1g.99862405delCA16040826AGLc.442del (p.Arg148GlyfsTer10)
n.653del
c.394del (p.Arg132GlyfsTer10)
c.391del (p.Arg131GlyfsTer10)
 ClinVar dbSNP
1g.99862405A=CA1147819699AGLc.442A= (p.Arg148=)
n.653A=
c.394A= (p.Arg132=)
c.391A= (p.Arg131=)
1g.99862405A>CCA419095880AGLc.442A>C (p.Arg148=)
n.653A>C
c.394A>C (p.Arg132=)
c.391A>C (p.Arg131=)
1g.99862405A>GCA966161AGLc.442A>G (p.Arg148Gly)
n.653A>G
c.394A>G (p.Arg132Gly)
c.391A>G (p.Arg131Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862405A>TCA341332742AGLc.442A>T (p.Arg148Trp)
n.653A>T
c.394A>T (p.Arg132Trp)
c.391A>T (p.Arg131Trp)
1g.99862406G>ACA966162AGLc.443G>A (p.Arg148Lys)
n.654G>A
c.395G>A (p.Arg132Lys)
c.392G>A (p.Arg131Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862406G>CCA341332763AGLc.443G>C (p.Arg148Thr)
n.654G>C
c.395G>C (p.Arg132Thr)
c.392G>C (p.Arg131Thr)
1g.99862406G=CA1145426729AGLc.443G= (p.Arg148=)
n.654G=
c.395G= (p.Arg132=)
c.392G= (p.Arg131=)
1g.99862406G>TCA341332760AGLc.443G>T (p.Arg148Met)
n.654G>T
c.395G>T (p.Arg132Met)
c.392G>T (p.Arg131Met)
1g.99862407G>ACA419095881AGLc.444G>A (p.Arg148=)
n.655G>A
c.396G>A (p.Arg132=)
c.393G>A (p.Arg131=)
1g.99862407G>CCA341332767AGLc.444G>C (p.Arg148Ser)
n.655G>C
c.396G>C (p.Arg132Ser)
c.393G>C (p.Arg131Ser)
 gnomAD v4
1g.99862407G>TCA341332768AGLc.444G>T (p.Arg148Ser)
n.655G>T
c.396G>T (p.Arg132Ser)
c.393G>T (p.Arg131Ser)
 gnomAD v4
1g.99862408G>ACA341332780AGLc.445G>A (p.Val149Ile)
n.656G>A
c.397G>A (p.Val133Ile)
c.394G>A (p.Val132Ile)
 gnomAD v4
1g.99862408G>CCA341332786AGLc.445G>C (p.Val149Leu)
n.656G>C
c.397G>C (p.Val133Leu)
c.394G>C (p.Val132Leu)
1g.99862408G>TCA341332787AGLc.445G>T (p.Val149Phe)
n.656G>T
c.397G>T (p.Val133Phe)
c.394G>T (p.Val132Phe)
1g.99862409T>ACA341332791AGLc.446T>A (p.Val149Asp)
n.657T>A
c.398T>A (p.Val133Asp)
c.395T>A (p.Val132Asp)
1g.99862409T>CCA966163AGLc.446T>C (p.Val149Ala)
n.657T>C
c.398T>C (p.Val133Ala)
c.395T>C (p.Val132Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862409T>GCA341332808AGLc.446T>G (p.Val149Gly)
n.657T>G
c.398T>G (p.Val133Gly)
c.395T>G (p.Val132Gly)
1g.99862409T=CA1183924561AGLc.446T= (p.Val149=)
n.657T=
c.398T= (p.Val133=)
c.395T= (p.Val132=)
1g.99862410T>ACA419095882AGLc.447T>A (p.Val149=)
n.658T>A
c.399T>A (p.Val133=)
c.396T>A (p.Val132=)
1g.99862410T>CCA419095883AGLc.447T>C (p.Val149=)
n.658T>C
c.399T>C (p.Val133=)
c.396T>C (p.Val132=)
1g.99862410T>GCA419095884AGLc.447T>G (p.Val149=)
n.658T>G
c.399T>G (p.Val133=)
c.396T>G (p.Val132=)
1g.99862411G>ACA341332809AGLc.448G>A (p.Ala150Thr)
n.659G>A
c.400G>A (p.Ala134Thr)
c.397G>A (p.Ala133Thr)
1g.99862411G>CCA341332817AGLc.448G>C (p.Ala150Pro)
n.659G>C
c.400G>C (p.Ala134Pro)
c.397G>C (p.Ala133Pro)
1g.99862411G>TCA341332826AGLc.448G>T (p.Ala150Ser)
n.659G>T
c.400G>T (p.Ala134Ser)
c.397G>T (p.Ala133Ser)
1g.99862412C>ACA341332848AGLc.449C>A (p.Ala150Glu)
n.660C>A
c.401C>A (p.Ala134Glu)
c.398C>A (p.Ala133Glu)
1g.99862412C>GCA341332835AGLc.449C>G (p.Ala150Gly)
n.660C>G
c.401C>G (p.Ala134Gly)
c.398C>G (p.Ala133Gly)
1g.99862412C>TCA341332844AGLc.449C>T (p.Ala150Val)
n.660C>T
c.401C>T (p.Ala134Val)
c.398C>T (p.Ala133Val)
1g.99862413A=CA1183924563AGLc.450A= (p.Ala150=)
n.661A=
c.402A= (p.Ala134=)
c.399A= (p.Ala133=)
1g.99862413A>CCA419095885AGLc.450A>C (p.Ala150=)
n.661A>C
c.402A>C (p.Ala134=)
c.399A>C (p.Ala133=)
 dbSNP gnomAD v3 gnomAD v4
1g.99862413A>GCA419095886AGLc.450A>G (p.Ala150=)
n.661A>G
c.402A>G (p.Ala134=)
c.399A>G (p.Ala133=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862413A>TCA419095887AGLc.450A>T (p.Ala150=)
n.661A>T
c.402A>T (p.Ala134=)
c.399A>T (p.Ala133=)
1g.99862414A>CCA341332856AGLc.451A>C (p.Lys151Gln)
n.662A>C
c.403A>C (p.Lys135Gln)
c.400A>C (p.Lys134Gln)
1g.99862414A>GCA341332866AGLc.451A>G (p.Lys151Glu)
n.662A>G
c.403A>G (p.Lys135Glu)
c.400A>G (p.Lys134Glu)
1g.99862414A>TCA341332869AGLc.451A>T (p.Lys151Ter)
n.662A>T
c.403A>T (p.Lys135Ter)
c.400A>T (p.Lys134Ter)
1g.99862415A>CCA341332879AGLc.452A>C (p.Lys151Thr)
n.663A>C
c.404A>C (p.Lys135Thr)
c.401A>C (p.Lys134Thr)
1g.99862415A>GCA341332885AGLc.452A>G (p.Lys151Arg)
n.663A>G
c.404A>G (p.Lys135Arg)
c.401A>G (p.Lys134Arg)
1g.99862415A>TCA341332888AGLc.452A>T (p.Lys151Ile)
n.663A>T
c.404A>T (p.Lys135Ile)
c.401A>T (p.Lys134Ile)
1g.99862416A>CCA341332899AGLc.453A>C (p.Lys151Asn)
n.664A>C
c.405A>C (p.Lys135Asn)
c.402A>C (p.Lys134Asn)
1g.99862416A>GCA419095888AGLc.453A>G (p.Lys151=)
n.664A>G
c.405A>G (p.Lys135=)
c.402A>G (p.Lys134=)
1g.99862416A>TCA341332904AGLc.453A>T (p.Lys151Asn)
n.664A>T
c.405A>T (p.Lys135Asn)
c.402A>T (p.Lys134Asn)
1g.99862417G>ACA341332929AGLc.454G>A (p.Glu152Lys)
n.665G>A
c.406G>A (p.Glu136Lys)
c.403G>A (p.Glu135Lys)
 gnomAD v4
1g.99862417G>CCA341332949AGLc.454G>C (p.Glu152Gln)
n.665G>C
c.406G>C (p.Glu136Gln)
c.403G>C (p.Glu135Gln)
 dbSNP COSMIC
1g.99862417G=CA1183924566AGLc.454G= (p.Glu152=)
n.665G=
c.406G= (p.Glu136=)
c.403G= (p.Glu135=)
1g.99862417G>TCA341332967AGLc.454G>T (p.Glu152Ter)
n.665G>T
c.406G>T (p.Glu136Ter)
c.403G>T (p.Glu135Ter)
 ClinVar dbSNP
1g.99862418A=CA1183924576AGLc.455A= (p.Glu152=)
n.666A=
c.407A= (p.Glu136=)
c.404A= (p.Glu135=)
1g.99862418A>CCA341332975AGLc.455A>C (p.Glu152Ala)
n.666A>C
c.407A>C (p.Glu136Ala)
c.404A>C (p.Glu135Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.99862418A>GCA341332977AGLc.455A>G (p.Glu152Gly)
n.666A>G
c.407A>G (p.Glu136Gly)
c.404A>G (p.Glu135Gly)
 gnomAD v4
1g.99862418A>TCA341332974AGLc.455A>T (p.Glu152Val)
n.666A>T
c.407A>T (p.Glu136Val)
c.404A>T (p.Glu135Val)
1g.99862418_99862419insTTCA2547901912AGLc.455_456insTT (p.Glu152AspfsTer7)
n.666_667insTT
c.407_408insTT (p.Glu136AspfsTer7)
c.404_405insTT (p.Glu135AspfsTer7)
1g.99862419A>CCA341332978AGLc.456A>C (p.Glu152Asp)
n.667A>C
c.408A>C (p.Glu136Asp)
c.405A>C (p.Glu135Asp)
1g.99862419A>GCA419095890AGLc.456A>G (p.Glu152=)
n.667A>G
c.408A>G (p.Glu136=)
c.405A>G (p.Glu135=)
 gnomAD v4
1g.99862419A>TCA341332991AGLc.456A>T (p.Glu152Asp)
n.667A>T
c.408A>T (p.Glu136Asp)
c.405A>T (p.Glu135Asp)
1g.99862420T>ACA341332993AGLc.457T>A (p.Ser153Thr)
n.668T>A
c.409T>A (p.Ser137Thr)
c.406T>A (p.Ser136Thr)
1g.99862420T>CCA341332994AGLc.457T>C (p.Ser153Pro)
n.668T>C
c.409T>C (p.Ser137Pro)
c.406T>C (p.Ser136Pro)
1g.99862420T>GCA341332995AGLc.457T>G (p.Ser153Ala)
n.668T>G
c.409T>G (p.Ser137Ala)
c.406T>G (p.Ser136Ala)
1g.99862421C>ACA341333011AGLc.458C>A (p.Ser153Ter)
n.669C>A
c.410C>A (p.Ser137Ter)
c.407C>A (p.Ser136Ter)
 ClinVar dbSNP
1g.99862421C=CA1183924583AGLc.458C= (p.Ser153=)
n.669C=
c.410C= (p.Ser137=)
c.407C= (p.Ser136=)
1g.99862421C>GCA341333010AGLc.458C>G (p.Ser153Ter)
n.669C>G
c.410C>G (p.Ser137Ter)
c.407C>G (p.Ser136Ter)
 COSMIC COSMIC
1g.99862421C>TCA341333009AGLc.458C>T (p.Ser153Leu)
n.669C>T
c.410C>T (p.Ser137Leu)
c.407C>T (p.Ser136Leu)
1g.99862422A>CCA419095891AGLc.459A>C (p.Ser153=)
n.670A>C
c.411A>C (p.Ser137=)
c.408A>C (p.Ser136=)
1g.99862422A>GCA419095892AGLc.459A>G (p.Ser153=)
n.670A>G
c.411A>G (p.Ser137=)
c.408A>G (p.Ser136=)
1g.99862422A>TCA419095893AGLc.459A>T (p.Ser153=)
n.670A>T
c.411A>T (p.Ser137=)
c.408A>T (p.Ser136=)
1g.99862423G>ACA341333012AGLc.460G>A (p.Gly154Ser)
n.671G>A
c.412G>A (p.Gly138Ser)
c.409G>A (p.Gly137Ser)
1g.99862423G>CCA341333014AGLc.460G>C (p.Gly154Arg)
n.671G>C
c.412G>C (p.Gly138Arg)
c.409G>C (p.Gly137Arg)
 gnomAD v4
1g.99862423G>TCA341333029AGLc.460G>T (p.Gly154Cys)
n.671G>T
c.412G>T (p.Gly138Cys)
c.409G>T (p.Gly137Cys)
1g.99862424G>ACA27561461AGLc.460+1G>A (n.460+1G>A)
n.671+1G>A
c.412+1G>A (n.412+1G>A)
c.409+1G>A (n.409+1G>A)
 ClinVar dbSNP
1g.99862424G>CCA341333048AGLc.460+1G>C (n.460+1G>C)
n.671+1G>C
c.412+1G>C (n.412+1G>C)
c.409+1G>C (n.409+1G>C)
1g.99862424G=CA1183924587AGLc.460+1G= (n.460+1G=)
n.671+1G=
c.412+1G= (n.412+1G=)
c.409+1G= (n.409+1G=)
1g.99862424G>TCA341333052AGLc.460+1G>T (n.460+1G>T)
n.671+1G>T
c.412+1G>T (n.412+1G>T)
c.409+1G>T (n.409+1G>T)
1g.99862425T>ACA341333058AGLc.460+2T>A (n.460+2T>A)
n.671+2T>A
c.412+2T>A (n.412+2T>A)
c.409+2T>A (n.409+2T>A)
1g.99862425T>CCA341333068AGLc.460+2T>C (n.460+2T>C)
n.671+2T>C
c.412+2T>C (n.412+2T>C)
c.409+2T>C (n.409+2T>C)
1g.99862425T>GCA341333066AGLc.460+2T>G (n.460+2T>G)
n.671+2T>G
c.412+2T>G (n.412+2T>G)
c.409+2T>G (n.409+2T>G)
1g.99862427A=CA1183924594AGLc.460+4A= (n.460+4A=)
n.671+4A=
c.412+4A= (n.412+4A=)
c.409+4A= (n.409+4A=)
1g.99862427A>GCA1004943036AGLc.460+4A>G (n.460+4A>G)
n.671+4A>G
c.412+4A>G (n.412+4A>G)
c.409+4A>G (n.409+4A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.99862428T>CCA2646735479AGLc.460+5T>C (n.460+5T>C)
n.671+5T>C
c.412+5T>C (n.412+5T>C)
c.409+5T>C (n.409+5T>C)
 gnomAD v4
1g.99862430T>CCA658656946AGLc.460+7T>C (n.460+7T>C)
n.671+7T>C
c.412+7T>C (n.412+7T>C)
c.409+7T>C (n.409+7T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862430T=CA1183924597AGLc.460+7T= (n.460+7T=)
n.671+7T=
c.412+7T= (n.412+7T=)
c.409+7T= (n.409+7T=)
1g.99862431C>TCA2646735482AGLc.460+8C>T (n.460+8C>T)
n.671+8C>T
c.412+8C>T (n.412+8C>T)
c.409+8C>T (n.409+8C>T)
 gnomAD v4
1g.99862432A=CA1183924601AGLc.460+9A= (n.460+9A=)
n.671+9A=
c.412+9A= (n.412+9A=)
c.409+9A= (n.409+9A=)
1g.99862432A>CCA524878376AGLc.460+9A>C (n.460+9A>C)
n.671+9A>C
c.412+9A>C (n.412+9A>C)
c.409+9A>C (n.409+9A>C)
 dbSNP gnomAD v2
1g.99862433G>TCA2646735484AGLc.460+10G>T (n.460+10G>T)
n.671+10G>T
c.412+10G>T (n.412+10G>T)
c.409+10G>T (n.409+10G>T)
 ClinVar gnomAD v4
1g.99862434C=CA1183924602AGLc.460+11C= (n.460+11C=)
n.671+11C=
c.412+11C= (n.412+11C=)
c.409+11C= (n.409+11C=)
1g.99862434C>TCA1183924603AGLc.460+11C>T (n.460+11C>T)
n.671+11C>T
c.412+11C>T (n.412+11C>T)
c.409+11C>T (n.409+11C>T)
 dbSNP
1g.99862435T>ACA2646735486AGLc.460+12T>A (n.460+12T>A)
n.671+12T>A
c.412+12T>A (n.412+12T>A)
c.409+12T>A (n.409+12T>A)
 gnomAD v4
1g.99862436T>GCA2562150463AGLc.460+13T>G (n.460+13T>G)
n.671+13T>G
c.412+13T>G (n.412+13T>G)
c.409+13T>G (n.409+13T>G)
1g.99862437G>ACA741019449AGLc.460+14G>A (n.460+14G>A)
n.671+14G>A
c.412+14G>A (n.412+14G>A)
c.409+14G>A (n.409+14G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862437G>CCA27561466AGLc.460+14G>C (n.460+14G>C)
n.671+14G>C
c.412+14G>C (n.412+14G>C)
c.409+14G>C (n.409+14G>C)
 dbSNP gnomAD v4
1g.99862437G=CA1143429251AGLc.460+14G= (n.460+14G=)
n.671+14G=
c.412+14G= (n.412+14G=)
c.409+14G= (n.409+14G=)
1g.99862437G>TCA2646735492AGLc.460+14G>T (n.460+14G>T)
n.671+14G>T
c.412+14G>T (n.412+14G>T)
c.409+14G>T (n.409+14G>T)
 gnomAD v4
1g.99862437_99862441delinsGCTTTCA1183924605AGLc.460+14_460+18delinsGCTTT (n.460+14_460+18delinsGCTTT)
n.671+14_671+18delinsGCTTT
c.412+14_412+18delinsGCTTT (n.412+14_412+18delinsGCTTT)
c.409+14_409+18delinsGCTTT (n.409+14_409+18delinsGCTTT)
1g.99862438C=CA1146965542AGLc.460+15C= (n.460+15C=)
n.671+15C=
c.412+15C= (n.412+15C=)
c.409+15C= (n.409+15C=)
1g.99862438C>TCA27561467AGLc.460+15C>T (n.460+15C>T)
n.671+15C>T
c.412+15C>T (n.412+15C>T)
c.409+15C>T (n.409+15C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862442_99862445delCA966164AGLc.460+19_460+22del (n.460+19_460+22del)
n.671+19_671+22del
c.412+19_412+22del (n.412+19_412+22del)
c.409+19_409+22del (n.409+19_409+22del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862439T>ACA2739272688AGLc.460+16T>A (n.460+16T>A)
n.671+16T>A
c.412+16T>A (n.412+16T>A)
c.409+16T>A (n.409+16T>A)
 ClinVar
1g.99862445_99862450delCA2697552541AGLc.460+22_460+27del (n.460+22_460+27del)
n.671+22_671+27del
c.412+22_412+27del (n.412+22_412+27del)
c.409+22_409+27del (n.409+22_409+27del)
 ClinVar
1g.99862440T>ACA2646735497AGLc.460+17T>A (n.460+17T>A)
n.671+17T>A
c.412+17T>A (n.412+17T>A)
c.409+17T>A (n.409+17T>A)
 gnomAD v4
1g.99862441T>GCA2574444263AGLc.460+18T>G (n.460+18T>G)
n.671+18T>G
c.412+18T>G (n.412+18T>G)
c.409+18T>G (n.409+18T>G)
1g.99862442C>ACA2574444264AGLc.460+19C>A (n.460+19C>A)
n.671+19C>A
c.412+19C>A (n.412+19C>A)
c.409+19C>A (n.409+19C>A)
 gnomAD v4
1g.99862442C=CA1183924615AGLc.460+19C= (n.460+19C=)
n.671+19C=
c.412+19C= (n.412+19C=)
c.409+19C= (n.409+19C=)
1g.99862442C>TCA524878377AGLc.460+19C>T (n.460+19C>T)
n.671+19C>T
c.412+19C>T (n.412+19C>T)
c.409+19C>T (n.409+19C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862442_99862446delinsCTTTTCA1183924617AGLc.460+19_460+23delinsCTTTT (n.460+19_460+23delinsCTTTT)
n.671+19_671+23delinsCTTTT
c.412+19_412+23delinsCTTTT (n.412+19_412+23delinsCTTTT)
c.409+19_409+23delinsCTTTT (n.409+19_409+23delinsCTTTT)
1g.99862447delCA966165AGLc.460+24del (n.460+24del)
n.671+24del
c.412+24del (n.412+24del)
c.409+24del (n.409+24del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862444_99862447delCA966166AGLc.460+21_460+24del (n.460+21_460+24del)
n.671+21_671+24del
c.412+21_412+24del (n.412+21_412+24del)
c.409+21_409+24del (n.409+21_409+24del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862444T>CCA966167AGLc.460+21T>C (n.460+21T>C)
n.671+21T>C
c.412+21T>C (n.412+21T>C)
c.409+21T>C (n.409+21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862444T=CA1183924621AGLc.460+21T= (n.460+21T=)
n.671+21T=
c.412+21T= (n.412+21T=)
c.409+21T= (n.409+21T=)
1g.99862445T>CCA2574444265AGLc.460+22T>C (n.460+22T>C)
n.671+22T>C
c.412+22T>C (n.412+22T>C)
c.409+22T>C (n.409+22T>C)
1g.99862447T>CCA966168AGLc.460+24T>C (n.460+24T>C)
n.671+24T>C
c.412+24T>C (n.412+24T>C)
c.409+24T>C (n.409+24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862447T=CA1183924622AGLc.460+24T= (n.460+24T=)
n.671+24T=
c.412+24T= (n.412+24T=)
c.409+24T= (n.409+24T=)
1g.99862450T>ACA966169AGLc.460+27T>A (n.460+27T>A)
n.671+27T>A
c.412+27T>A (n.412+27T>A)
c.409+27T>A (n.409+27T>A)
 dbSNP ExAC gnomAD v2
1g.99862450T>CCA741019466AGLc.460+27T>C (n.460+27T>C)
n.671+27T>C
c.412+27T>C (n.412+27T>C)
c.409+27T>C (n.409+27T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.99862450T=CA1183924624AGLc.460+27T= (n.460+27T=)
n.671+27T=
c.412+27T= (n.412+27T=)
c.409+27T= (n.409+27T=)
1g.99862451A=CA1183924626AGLc.460+28A= (n.460+28A=)
n.671+28A=
c.412+28A= (n.412+28A=)
c.409+28A= (n.409+28A=)
1g.99862451A>GCA966170AGLc.460+28A>G (n.460+28A>G)
n.671+28A>G
c.412+28A>G (n.412+28A>G)
c.409+28A>G (n.409+28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862452T>CCA966172AGLc.460+29T>C (n.460+29T>C)
n.671+29T>C
c.412+29T>C (n.412+29T>C)
c.409+29T>C (n.409+29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862452T>GCA966171AGLc.460+29T>G (n.460+29T>G)
n.671+29T>G
c.412+29T>G (n.412+29T>G)
c.409+29T>G (n.409+29T>G)
 dbSNP ExAC gnomAD v2
1g.99862452T=CA1183924627AGLc.460+29T= (n.460+29T=)
n.671+29T=
c.412+29T= (n.412+29T=)
c.409+29T= (n.409+29T=)
1g.99862453T>GCA966173AGLc.460+30T>G (n.460+30T>G)
n.671+30T>G
c.412+30T>G (n.412+30T>G)
c.409+30T>G (n.409+30T>G)
 dbSNP ExAC gnomAD v2
1g.99862453T=CA1183924629AGLc.460+30T= (n.460+30T=)
n.671+30T=
c.412+30T= (n.412+30T=)
c.409+30T= (n.409+30T=)
1g.99862454T>GCA966175AGLc.460+31T>G (n.460+31T>G)
n.671+31T>G
c.412+31T>G (n.412+31T>G)
c.409+31T>G (n.409+31T>G)
 dbSNP ExAC gnomAD v2
1g.99862454T=CA1183924633AGLc.460+31T= (n.460+31T=)
n.671+31T=
c.412+31T= (n.412+31T=)
c.409+31T= (n.409+31T=)
1g.99862454_99862455delinsTACA1183924634AGLc.460+31_460+32delinsTA (n.460+31_460+32delinsTA)
n.671+31_671+32delinsTA
c.412+31_412+32delinsTA (n.412+31_412+32delinsTA)
c.409+31_409+32delinsTA (n.409+31_409+32delinsTA)
1g.99862454_99862455insCTAAGGGCA966174AGLc.460+31_460+32insCTAAGGG (n.460+31_460+32insCTAAGGG)
n.671+31_671+32insCTAAGGG
c.412+31_412+32insCTAAGGG (n.412+31_412+32insCTAAGGG)
c.409+31_409+32insCTAAGGG (n.409+31_409+32insCTAAGGG)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862455A>TCA2646735531AGLc.460+32A>T (n.460+32A>T)
n.671+32A>T
c.412+32A>T (n.412+32A>T)
c.409+32A>T (n.409+32A>T)
 gnomAD v4
1g.99862461dupCA524878378AGLc.460+38dup (n.460+38dup)
n.671+38dup
c.412+38dup (n.412+38dup)
c.409+38dup (n.409+38dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862461delCA966176AGLc.460+38del (n.460+38del)
n.671+38del
c.412+38del (n.412+38del)
c.409+38del (n.409+38del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862459A>CCA2574444266AGLc.460+36A>C (n.460+36A>C)
n.671+36A>C
c.412+36A>C (n.412+36A>C)
c.409+36A>C (n.409+36A>C)
1g.99862459_99862462delinsAAATCA1183924638AGLc.460+36_460+39delinsAAAT (n.460+36_460+39delinsAAAT)
n.671+36_671+39delinsAAAT
c.412+36_412+39delinsAAAT (n.412+36_412+39delinsAAAT)
c.409+36_409+39delinsAAAT (n.409+36_409+39delinsAAAT)
1g.99862462_99862464delCA27561541AGLc.460+39_460+41del (n.460+39_460+41del)
n.671+39_671+41del
c.412+39_412+41del (n.412+39_412+41del)
c.409+39_409+41del (n.409+39_409+41del)
 dbSNP gnomAD v3 gnomAD v4
1g.99862461A=CA1183924640AGLc.460+38A= (n.460+38A=)
n.671+38A=
c.412+38A= (n.412+38A=)
c.409+38A= (n.409+38A=)
1g.99862461A>GCA966177AGLc.460+38A>G (n.460+38A>G)
n.671+38A>G
c.412+38A>G (n.412+38A>G)
c.409+38A>G (n.409+38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862461_99862462delinsATCA1183924642AGLc.460+38_460+39delinsAT (n.460+38_460+39delinsAT)
n.671+38_671+39delinsAT
c.412+38_412+39delinsAT (n.412+38_412+39delinsAT)
c.409+38_409+39delinsAT (n.409+38_409+39delinsAT)
1g.99862462delCA524878379AGLc.460+39del (n.460+39del)
n.671+39del
c.412+39del (n.412+39del)
c.409+39del (n.409+39del)
 dbSNP gnomAD v2 gnomAD v4
1g.99862462T>ACA524878380AGLc.460+39T>A (n.460+39T>A)
n.671+39T>A
c.412+39T>A (n.412+39T>A)
c.409+39T>A (n.409+39T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.99862462T=CA1183924645AGLc.460+39T= (n.460+39T=)
n.671+39T=
c.412+39T= (n.412+39T=)
c.409+39T= (n.409+39T=)
1g.99862462_99862467delinsTAAATGCA1183924644AGLc.460+39_460+44delinsTAAATG (n.460+39_460+44delinsTAAATG)
n.671+39_671+44delinsTAAATG
c.412+39_412+44delinsTAAATG (n.412+39_412+44delinsTAAATG)
c.409+39_409+44delinsTAAATG (n.409+39_409+44delinsTAAATG)
1g.99862463_99862467delCA1183924648AGLc.460+40_460+44del (n.460+40_460+44del)
n.671+40_671+44del
c.412+40_412+44del (n.412+40_412+44del)
c.409+40_409+44del (n.409+40_409+44del)
 dbSNP gnomAD v4
1g.99862465A=CA1183924649AGLc.460+42A= (n.460+42A=)
n.671+42A=
c.412+42A= (n.412+42A=)
c.409+42A= (n.409+42A=)
1g.99862465A>GCA2646735552AGLc.460+42A>G (n.460+42A>G)
n.671+42A>G
c.412+42A>G (n.412+42A>G)
c.409+42A>G (n.409+42A>G)
 gnomAD v4
1g.99862465A>TCA741019481AGLc.460+42A>T (n.460+42A>T)
n.671+42A>T
c.412+42A>T (n.412+42A>T)
c.409+42A>T (n.409+42A>T)
 dbSNP
1g.99862465_99862466insACAAAAACCA966180AGLc.460+42_460+43insACAAAAAC (n.460+42_460+43insACAAAAAC)
n.671+42_671+43insACAAAAAC
c.412+42_412+43insACAAAAAC (n.412+42_412+43insACAAAAAC)
c.409+42_409+43insACAAAAAC (n.409+42_409+43insACAAAAAC)
 dbSNP ExAC
1g.99862465_99862466insACAAAAACTCA966178AGLc.460+42_460+43insACAAAAACT (n.460+42_460+43insACAAAAACT)
n.671+42_671+43insACAAAAACT
c.412+42_412+43insACAAAAACT (n.412+42_412+43insACAAAAACT)
c.409+42_409+43insACAAAAACT (n.409+42_409+43insACAAAAACT)
 dbSNP ExAC gnomAD v2
1g.99862465_99862466insACAAAAACTTCA966179AGLc.460+42_460+43insACAAAAACTT (n.460+42_460+43insACAAAAACTT)
n.671+42_671+43insACAAAAACTT
c.412+42_412+43insACAAAAACTT (n.412+42_412+43insACAAAAACTT)
c.409+42_409+43insACAAAAACTT (n.409+42_409+43insACAAAAACTT)
 dbSNP ExAC
1g.99862465_99862466insACAAAAACTTTCA524878381AGLc.460+42_460+43insACAAAAACTTT (n.460+42_460+43insACAAAAACTTT)
n.671+42_671+43insACAAAAACTTT
c.412+42_412+43insACAAAAACTTT (n.412+42_412+43insACAAAAACTTT)
c.409+42_409+43insACAAAAACTTT (n.409+42_409+43insACAAAAACTTT)
 gnomAD v2
1g.99862466T>ACA966181AGLc.460+43T>A (n.460+43T>A)
n.671+43T>A
c.412+43T>A (n.412+43T>A)
c.409+43T>A (n.409+43T>A)
 dbSNP ExAC gnomAD v2
1g.99862466T>CCA2574444267AGLc.460+43T>C (n.460+43T>C)
n.671+43T>C
c.412+43T>C (n.412+43T>C)
c.409+43T>C (n.409+43T>C)
 gnomAD v4
1g.99862466T=CA1183924664AGLc.460+43T= (n.460+43T=)
n.671+43T=
c.412+43T= (n.412+43T=)
c.409+43T= (n.409+43T=)
1g.99862466_99862467delinsTGCA1183924661AGLc.460+43_460+44delinsTG (n.460+43_460+44delinsTG)
n.671+43_671+44delinsTG
c.412+43_412+44delinsTG (n.412+43_412+44delinsTG)
c.409+43_409+44delinsTG (n.409+43_409+44delinsTG)
1g.99862467delCA524878382AGLc.460+44del (n.460+44del)
n.671+44del
c.412+44del (n.412+44del)
c.409+44del (n.409+44del)
 dbSNP gnomAD v2 gnomAD v4
1g.99862467G>ACA741019494AGLc.460+44G>A (n.460+44G>A)
n.671+44G>A
c.412+44G>A (n.412+44G>A)
c.409+44G>A (n.409+44G>A)
 dbSNP gnomAD v4
1g.99862467G>CCA966182AGLc.460+44G>C (n.460+44G>C)
n.671+44G>C
c.412+44G>C (n.412+44G>C)
c.409+44G>C (n.409+44G>C)
 dbSNP ExAC gnomAD v2
1g.99862467G=CA1183924671AGLc.460+44G= (n.460+44G=)
n.671+44G=
c.412+44G= (n.412+44G=)
c.409+44G= (n.409+44G=)
1g.99862467G>TCA966183AGLc.460+44G>T (n.460+44G>T)
n.671+44G>T
c.412+44G>T (n.412+44G>T)
c.409+44G>T (n.409+44G>T)
 dbSNP ExAC gnomAD v2
1g.99862468T>ACA966184AGLc.460+45T>A (n.460+45T>A)
n.671+45T>A
c.412+45T>A (n.412+45T>A)
c.409+45T>A (n.409+45T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862468T>CCA524878383AGLc.460+45T>C (n.460+45T>C)
n.671+45T>C
c.412+45T>C (n.412+45T>C)
c.409+45T>C (n.409+45T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.99862468T=CA1148447982AGLc.460+45T= (n.460+45T=)
n.671+45T=
c.412+45T= (n.412+45T=)
c.409+45T= (n.409+45T=)
1g.99862469A=CA1183924675AGLc.460+46A= (n.460+46A=)
n.671+46A=
c.412+46A= (n.412+46A=)
c.409+46A= (n.409+46A=)
1g.99862469A>CCA966185AGLc.460+46A>C (n.460+46A>C)
n.671+46A>C
c.412+46A>C (n.412+46A>C)
c.409+46A>C (n.409+46A>C)
 dbSNP ExAC
1g.99862470A=CA1183924679AGLc.460+47A= (n.460+47A=)
n.671+47A=
c.412+47A= (n.412+47A=)
c.409+47A= (n.409+47A=)
1g.99862470A>GCA966186AGLc.460+47A>G (n.460+47A>G)
n.671+47A>G
c.412+47A>G (n.412+47A>G)
c.409+47A>G (n.409+47A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862470A>TCA2646735583AGLc.460+47A>T (n.460+47A>T)
n.671+47A>T
c.412+47A>T (n.412+47A>T)
c.409+47A>T (n.409+47A>T)
 gnomAD v4
1g.99862470_99862471insAACCA966187AGLc.460+47_460+48insAAC (n.460+47_460+48insAAC)
n.671+47_671+48insAAC
c.412+47_412+48insAAC (n.412+47_412+48insAAC)
c.409+47_409+48insAAC (n.409+47_409+48insAAC)
 dbSNP ExAC gnomAD v2
1g.99862471T>CCA645723502AGLc.460+48T>C (n.460+48T>C)
n.671+48T>C
c.412+48T>C (n.412+48T>C)
c.409+48T>C (n.409+48T>C)
 COSMIC COSMIC
1g.99862473A=CA1148277230AGLc.460+50A= (n.460+50A=)
n.671+50A=
c.412+50A= (n.412+50A=)
c.409+50A= (n.409+50A=)
1g.99862473A>CCA2646735586AGLc.460+50A>C (n.460+50A>C)
n.671+50A>C
c.412+50A>C (n.412+50A>C)
c.409+50A>C (n.409+50A>C)
 gnomAD v4
1g.99862473A>TCA966188AGLc.460+50A>T (n.460+50A>T)
n.671+50A>T
c.412+50A>T (n.412+50A>T)
c.409+50A>T (n.409+50A>T)
 dbSNP ExAC

Number of alleles fetched