Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.244863508_244864169delCA2580063520HNRNPUc.143_634+170del
n.328_819+170del
n.374_922+113del
c.143_691+113del
n.367_858+170del
n.327_818+170del
 ClinVar
1g.244863855G>ACA1486796HNRNPUc.131C>T
c.453C>T (p.Gly151=)
n.638C>T
c.237C>T (p.Gly79=)
n.684C>T
c.153C>T (p.Gly51=)
n.677C>T
n.637C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863855G>CCA424402695HNRNPUc.131C>G
c.453C>G (p.Gly151=)
n.638C>G
c.237C>G (p.Gly79=)
n.684C>G
c.153C>G (p.Gly51=)
n.677C>G
n.637C>G
1g.244863855G=CA1231007479HNRNPUc.131C=
c.453C= (p.Gly151=)
n.638C=
c.237C= (p.Gly79=)
n.684C=
c.153C= (p.Gly51=)
n.677C=
n.637C=
1g.244863855G>TCA424402696HNRNPUc.131C>A
c.453C>A (p.Gly151=)
n.638C>A
c.237C>A (p.Gly79=)
n.684C>A
c.153C>A (p.Gly51=)
n.677C>A
n.637C>A
 dbSNP gnomAD v4
1g.244863856C>ACA345497040HNRNPUc.130G>T
c.452G>T (p.Gly151Val)
n.637G>T
c.236G>T (p.Gly79Val)
n.683G>T
c.152G>T (p.Gly51Val)
n.676G>T
n.636G>T
1g.244863856C>GCA345497042HNRNPUc.130G>C
c.452G>C (p.Gly151Ala)
n.637G>C
c.236G>C (p.Gly79Ala)
n.683G>C
c.152G>C (p.Gly51Ala)
n.676G>C
n.636G>C
1g.244863856C>TCA345497041HNRNPUc.130G>A
c.452G>A (p.Gly151Asp)
n.637G>A
c.236G>A (p.Gly79Asp)
n.683G>A
c.152G>A (p.Gly51Asp)
n.676G>A
n.636G>A
1g.244863857C>ACA1486797HNRNPUc.129G>T
c.451G>T (p.Gly151Cys)
n.636G>T
c.235G>T (p.Gly79Cys)
n.682G>T
c.151G>T (p.Gly51Cys)
n.675G>T
n.635G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863857C=CA1147529447HNRNPUc.129G=
c.451G= (p.Gly151=)
n.636G=
c.235G= (p.Gly79=)
n.682G=
c.151G= (p.Gly51=)
n.675G=
n.635G=
1g.244863857C>GCA345497045HNRNPUc.129G>C
c.451G>C (p.Gly151Arg)
n.636G>C
c.235G>C (p.Gly79Arg)
n.682G>C
c.151G>C (p.Gly51Arg)
n.675G>C
n.635G>C
1g.244863857C>TCA1486798HNRNPUc.129G>A
c.451G>A (p.Gly151Ser)
n.636G>A
c.235G>A (p.Gly79Ser)
n.682G>A
c.151G>A (p.Gly51Ser)
n.675G>A
n.635G>A
 ClinVar dbSNP ExAC gnomAD v4
1g.244863858_244863860dupCA2748454211HNRNPUc.127_129dup
c.449_451dup (p.Glu150_Gly151insGlu)
n.634_636dup
c.233_235dup (p.Glu78_Gly79insGlu)
n.680_682dup
c.149_151dup (p.Glu50_Gly51insGlu)
n.673_675dup
n.633_635dup
1g.244863858T>ACA345497048HNRNPUc.128A>T
c.450A>T (p.Glu150Asp)
n.635A>T
c.234A>T (p.Glu78Asp)
n.681A>T
c.150A>T (p.Glu50Asp)
n.674A>T
n.634A>T
1g.244863858T>CCA424402697HNRNPUc.128A>G
c.450A>G (p.Glu150=)
n.635A>G
c.234A>G (p.Glu78=)
n.681A>G
c.150A>G (p.Glu50=)
n.674A>G
n.634A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863858T>GCA345497050HNRNPUc.128A>C
c.450A>C (p.Glu150Asp)
n.635A>C
c.234A>C (p.Glu78Asp)
n.681A>C
c.150A>C (p.Glu50Asp)
n.674A>C
n.634A>C
 ClinVar
1g.244863858T=CA1231007480HNRNPUc.128A=
c.450A= (p.Glu150=)
n.635A=
c.234A= (p.Glu78=)
n.681A=
c.150A= (p.Glu50=)
n.674A=
n.634A=
1g.244863859T>ACA345497053HNRNPUc.127A>T
c.449A>T (p.Glu150Val)
n.634A>T
c.233A>T (p.Glu78Val)
n.680A>T
c.149A>T (p.Glu50Val)
n.673A>T
n.633A>T
1g.244863859T>CCA345497054HNRNPUc.127A>G
c.449A>G (p.Glu150Gly)
n.634A>G
c.233A>G (p.Glu78Gly)
n.680A>G
c.149A>G (p.Glu50Gly)
n.673A>G
n.633A>G
1g.244863859T>GCA345497056HNRNPUc.127A>C
c.449A>C (p.Glu150Ala)
n.634A>C
c.233A>C (p.Glu78Ala)
n.680A>C
c.149A>C (p.Glu50Ala)
n.673A>C
n.633A>C
1g.244863860C>ACA345497059HNRNPUc.126G>T
c.448G>T (p.Glu150Ter)
n.633G>T
c.232G>T (p.Glu78Ter)
n.679G>T
c.148G>T (p.Glu50Ter)
n.672G>T
n.632G>T
1g.244863860C=CA1231007481HNRNPUc.126G=
c.448G= (p.Glu150=)
n.633G=
c.232G= (p.Glu78=)
n.679G=
c.148G= (p.Glu50=)
n.672G=
n.632G=
1g.244863860C>GCA40505131HNRNPUc.126G>C
c.448G>C (p.Glu150Gln)
n.633G>C
c.232G>C (p.Glu78Gln)
n.679G>C
c.148G>C (p.Glu50Gln)
n.672G>C
n.632G>C
 dbSNP
1g.244863860C>TCA345497061HNRNPUc.126G>A
c.448G>A (p.Glu150Lys)
n.633G>A
c.232G>A (p.Glu78Lys)
n.679G>A
c.148G>A (p.Glu50Lys)
n.672G>A
n.632G>A
1g.244863861C>ACA345497065HNRNPUc.125G>T
c.447G>T (p.Glu149Asp)
n.632G>T
c.231G>T (p.Glu77Asp)
n.678G>T
c.147G>T (p.Glu49Asp)
n.671G>T
n.631G>T
1g.244863861C>GCA345497063HNRNPUc.125G>C
c.447G>C (p.Glu149Asp)
n.632G>C
c.231G>C (p.Glu77Asp)
n.678G>C
c.147G>C (p.Glu49Asp)
n.671G>C
n.631G>C
1g.244863861C>TCA424402698HNRNPUc.125G>A
c.447G>A (p.Glu149=)
n.632G>A
c.231G>A (p.Glu77=)
n.678G>A
c.147G>A (p.Glu49=)
n.671G>A
n.631G>A
1g.244863862T>ACA345497068HNRNPUc.124A>T
c.446A>T (p.Glu149Val)
n.631A>T
c.230A>T (p.Glu77Val)
n.677A>T
c.146A>T (p.Glu49Val)
n.670A>T
n.630A>T
1g.244863862T>CCA40505134HNRNPUc.124A>G
c.446A>G (p.Glu149Gly)
n.631A>G
c.230A>G (p.Glu77Gly)
n.677A>G
c.146A>G (p.Glu49Gly)
n.670A>G
n.630A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863862T>GCA345497070HNRNPUc.124A>C
c.446A>C (p.Glu149Ala)
n.631A>C
c.230A>C (p.Glu77Ala)
n.677A>C
c.146A>C (p.Glu49Ala)
n.670A>C
n.630A>C
1g.244863862T=CA1144069203HNRNPUc.124A=
c.446A= (p.Glu149=)
n.631A=
c.230A= (p.Glu77=)
n.677A=
c.146A= (p.Glu49=)
n.670A=
n.630A=
1g.244863867_244863884delCA2580063537HNRNPUc.107_124del
c.429_446del (p.Asp143_Glu148del)
n.614_631del
c.213_230del (p.Asp71_Glu76del)
n.660_677del
c.129_146del (p.Asp43_Glu48del)
n.653_670del
n.613_630del
 ClinVar
1g.244863863C>ACA345497076HNRNPUc.123G>T
c.445G>T (p.Glu149Ter)
n.630G>T
c.229G>T (p.Glu77Ter)
n.676G>T
c.145G>T (p.Glu49Ter)
n.669G>T
n.629G>T
1g.244863863C>GCA345497079HNRNPUc.123G>C
c.445G>C (p.Glu149Gln)
n.630G>C
c.229G>C (p.Glu77Gln)
n.676G>C
c.145G>C (p.Glu49Gln)
n.669G>C
n.629G>C
1g.244863863C>TCA345497080HNRNPUc.123G>A
c.445G>A (p.Glu149Lys)
n.630G>A
c.229G>A (p.Glu77Lys)
n.676G>A
c.145G>A (p.Glu49Lys)
n.669G>A
n.629G>A
1g.244863864T>ACA345497083HNRNPUc.122A>T
c.444A>T (p.Glu148Asp)
n.629A>T
c.228A>T (p.Glu76Asp)
n.675A>T
c.144A>T (p.Glu48Asp)
n.668A>T
n.628A>T
1g.244863864T>CCA424402699HNRNPUc.122A>G
c.444A>G (p.Glu148=)
n.629A>G
c.228A>G (p.Glu76=)
n.675A>G
c.144A>G (p.Glu48=)
n.668A>G
n.628A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863864T>GCA345497085HNRNPUc.122A>C
c.444A>C (p.Glu148Asp)
n.629A>C
c.228A>C (p.Glu76Asp)
n.675A>C
c.144A>C (p.Glu48Asp)
n.668A>C
n.628A>C
1g.244863865T>ACA345497088HNRNPUc.121A>T
c.443A>T (p.Glu148Val)
n.628A>T
c.227A>T (p.Glu76Val)
n.674A>T
c.143A>T (p.Glu48Val)
n.667A>T
n.627A>T
1g.244863865T>CCA345497089HNRNPUc.121A>G
c.443A>G (p.Glu148Gly)
n.628A>G
c.227A>G (p.Glu76Gly)
n.674A>G
c.143A>G (p.Glu48Gly)
n.667A>G
n.627A>G
 dbSNP
1g.244863865T>GCA345497091HNRNPUc.121A>C
c.443A>C (p.Glu148Ala)
n.628A>C
c.227A>C (p.Glu76Ala)
n.674A>C
c.143A>C (p.Glu48Ala)
n.667A>C
n.627A>C
1g.244863865T=CA1231007482HNRNPUc.121A=
c.443A= (p.Glu148=)
n.628A=
c.227A= (p.Glu76=)
n.674A=
c.143A= (p.Glu48=)
n.667A=
n.627A=
1g.244863866C>ACA345497093HNRNPUc.120G>T
c.442G>T (p.Glu148Ter)
n.627G>T
c.226G>T (p.Glu76Ter)
n.673G>T
c.142G>T (p.Glu48Ter)
n.666G>T
n.626G>T
1g.244863866C>GCA345497094HNRNPUc.120G>C
c.442G>C (p.Glu148Gln)
n.627G>C
c.226G>C (p.Glu76Gln)
n.673G>C
c.142G>C (p.Glu48Gln)
n.666G>C
n.626G>C
1g.244863866C>TCA345497096HNRNPUc.120G>A
c.442G>A (p.Glu148Lys)
n.627G>A
c.226G>A (p.Glu76Lys)
n.673G>A
c.142G>A (p.Glu48Lys)
n.666G>A
n.626G>A
 gnomAD v4
1g.244863867G>ACA424402702HNRNPUc.119C>T
c.441C>T (p.Asp147=)
n.626C>T
c.225C>T (p.Asp75=)
n.672C>T
c.141C>T (p.Asp47=)
n.665C>T
n.625C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863867G>CCA1486799HNRNPUc.119C>G
c.441C>G (p.Asp147Glu)
n.626C>G
c.225C>G (p.Asp75Glu)
n.672C>G
c.141C>G (p.Asp47Glu)
n.665C>G
n.625C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863867G=CA1145151615HNRNPUc.119C=
c.441C= (p.Asp147=)
n.626C=
c.225C= (p.Asp75=)
n.672C=
c.141C= (p.Asp47=)
n.665C=
n.625C=
1g.244863867G>TCA345497097HNRNPUc.119C>A
c.441C>A (p.Asp147Glu)
n.626C>A
c.225C>A (p.Asp75Glu)
n.672C>A
c.141C>A (p.Asp47Glu)
n.665C>A
n.625C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863868T>ACA345497098HNRNPUc.118A>T
c.440A>T (p.Asp147Val)
n.625A>T
c.224A>T (p.Asp75Val)
n.671A>T
c.140A>T (p.Asp47Val)
n.664A>T
n.624A>T
1g.244863868T>CCA345497099HNRNPUc.118A>G
c.440A>G (p.Asp147Gly)
n.625A>G
c.224A>G (p.Asp75Gly)
n.671A>G
c.140A>G (p.Asp47Gly)
n.664A>G
n.624A>G
 gnomAD v4
1g.244863868T>GCA345497101HNRNPUc.118A>C
c.440A>C (p.Asp147Ala)
n.625A>C
c.224A>C (p.Asp75Ala)
n.671A>C
c.140A>C (p.Asp47Ala)
n.664A>C
n.624A>C
1g.244863868_244863870delCA2748454213HNRNPUc.116_118del
c.438_440del (p.Asp147del)
n.623_625del
c.222_224del (p.Asp75del)
n.669_671del
c.138_140del (p.Asp47del)
n.662_664del
n.622_624del
1g.244863869C>ACA345497103HNRNPUc.117G>T
c.439G>T (p.Asp147Tyr)
n.624G>T
c.223G>T (p.Asp75Tyr)
n.670G>T
c.139G>T (p.Asp47Tyr)
n.663G>T
n.623G>T
 ClinVar dbSNP gnomAD v4
1g.244863869C=CA1231007483HNRNPUc.117G=
c.439G= (p.Asp147=)
n.624G=
c.223G= (p.Asp75=)
n.670G=
c.139G= (p.Asp47=)
n.663G=
n.623G=
1g.244863869C>GCA345497105HNRNPUc.117G>C
c.439G>C (p.Asp147His)
n.624G>C
c.223G>C (p.Asp75His)
n.670G>C
c.139G>C (p.Asp47His)
n.663G>C
n.623G>C
1g.244863869C>TCA1486800HNRNPUc.117G>A
c.439G>A (p.Asp147Asn)
n.624G>A
c.223G>A (p.Asp75Asn)
n.670G>A
c.139G>A (p.Asp47Asn)
n.663G>A
n.623G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863870C>ACA424402706HNRNPUc.116G>T
c.438G>T (p.Gly146=)
n.623G>T
c.222G>T (p.Gly74=)
n.669G>T
c.138G>T (p.Gly46=)
n.662G>T
n.622G>T
1g.244863870C=CA1231007484HNRNPUc.116G=
c.438G= (p.Gly146=)
n.623G=
c.222G= (p.Gly74=)
n.669G=
c.138G= (p.Gly46=)
n.662G=
n.622G=
1g.244863870C>GCA424402707HNRNPUc.116G>C
c.438G>C (p.Gly146=)
n.623G>C
c.222G>C (p.Gly74=)
n.669G>C
c.138G>C (p.Gly46=)
n.662G>C
n.622G>C
 gnomAD v4
1g.244863870C>TCA424402708HNRNPUc.116G>A
c.438G>A (p.Gly146=)
n.623G>A
c.222G>A (p.Gly74=)
n.669G>A
c.138G>A (p.Gly46=)
n.662G>A
n.622G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863871C>ACA345497107HNRNPUc.115G>T
c.437G>T (p.Gly146Val)
n.622G>T
c.221G>T (p.Gly74Val)
n.668G>T
c.137G>T (p.Gly46Val)
n.661G>T
n.621G>T
1g.244863871C=CA1231007485HNRNPUc.115G=
c.437G= (p.Gly146=)
n.622G=
c.221G= (p.Gly74=)
n.668G=
c.137G= (p.Gly46=)
n.661G=
n.621G=
1g.244863871C>GCA345497109HNRNPUc.115G>C
c.437G>C (p.Gly146Ala)
n.622G>C
c.221G>C (p.Gly74Ala)
n.668G>C
c.137G>C (p.Gly46Ala)
n.661G>C
n.621G>C
 dbSNP gnomAD v2 gnomAD v4
1g.244863871C>TCA345497111HNRNPUc.115G>A
c.437G>A (p.Gly146Glu)
n.622G>A
c.221G>A (p.Gly74Glu)
n.668G>A
c.137G>A (p.Gly46Glu)
n.661G>A
n.621G>A
 ClinVar
1g.244863872C>ACA345497113HNRNPUc.114G>T
c.436G>T (p.Gly146Trp)
n.621G>T
c.220G>T (p.Gly74Trp)
n.667G>T
c.136G>T (p.Gly46Trp)
n.660G>T
n.620G>T
1g.244863872C=CA1231007486HNRNPUc.114G=
c.436G= (p.Gly146=)
n.621G=
c.220G= (p.Gly74=)
n.667G=
c.136G= (p.Gly46=)
n.660G=
n.620G=
1g.244863872C>GCA40505154HNRNPUc.114G>C
c.436G>C (p.Gly146Arg)
n.621G>C
c.220G>C (p.Gly74Arg)
n.667G>C
c.136G>C (p.Gly46Arg)
n.660G>C
n.620G>C
 ClinVar dbSNP
1g.244863872C>TCA345497115HNRNPUc.114G>A
c.436G>A (p.Gly146Arg)
n.621G>A
c.220G>A (p.Gly74Arg)
n.667G>A
c.136G>A (p.Gly46Arg)
n.660G>A
n.620G>A
1g.244863873G>ACA424403078HNRNPUc.113C>T
c.435C>T (p.Leu145=)
n.620C>T
c.219C>T (p.Leu73=)
n.666C>T
c.135C>T (p.Leu45=)
n.659C>T
n.619C>T
 ClinVar dbSNP
1g.244863873G>CCA424403081HNRNPUc.113C>G
c.435C>G (p.Leu145=)
n.620C>G
c.219C>G (p.Leu73=)
n.666C>G
c.135C>G (p.Leu45=)
n.659C>G
n.619C>G
 dbSNP
1g.244863873G=CA1231007487HNRNPUc.113C=
c.435C= (p.Leu145=)
n.620C=
c.219C= (p.Leu73=)
n.666C=
c.135C= (p.Leu45=)
n.659C=
n.619C=
1g.244863873G>TCA424403084HNRNPUc.113C>A
c.435C>A (p.Leu145=)
n.620C>A
c.219C>A (p.Leu73=)
n.666C>A
c.135C>A (p.Leu45=)
n.659C>A
n.619C>A
 ClinVar
1g.244863874A>CCA345497119HNRNPUc.112T>G
c.434T>G (p.Leu145Arg)
n.619T>G
c.218T>G (p.Leu73Arg)
n.665T>G
c.134T>G (p.Leu45Arg)
n.658T>G
n.618T>G
1g.244863874A>GCA345497121HNRNPUc.112T>C
c.434T>C (p.Leu145Pro)
n.619T>C
c.218T>C (p.Leu73Pro)
n.665T>C
c.134T>C (p.Leu45Pro)
n.658T>C
n.618T>C
1g.244863874A>TCA345497118HNRNPUc.112T>A
c.434T>A (p.Leu145His)
n.619T>A
c.218T>A (p.Leu73His)
n.665T>A
c.134T>A (p.Leu45His)
n.658T>A
n.618T>A
1g.244863875G>ACA1486801HNRNPUc.111C>T
c.433C>T (p.Leu145Phe)
n.618C>T
c.217C>T (p.Leu73Phe)
n.664C>T
c.133C>T (p.Leu45Phe)
n.657C>T
n.617C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863875G>CCA345497122HNRNPUc.111C>G
c.433C>G (p.Leu145Val)
n.618C>G
c.217C>G (p.Leu73Val)
n.664C>G
c.133C>G (p.Leu45Val)
n.657C>G
n.617C>G
 gnomAD v4
1g.244863875G=CA1149036569HNRNPUc.111C=
c.433C= (p.Leu145=)
n.618C=
c.217C= (p.Leu73=)
n.664C=
c.133C= (p.Leu45=)
n.657C=
n.617C=
1g.244863875G>TCA345497124HNRNPUc.111C>A
c.433C>A (p.Leu145Ile)
n.618C>A
c.217C>A (p.Leu73Ile)
n.664C>A
c.133C>A (p.Leu45Ile)
n.657C>A
n.617C>A
1g.244863876C>ACA345497126HNRNPUc.110G>T
c.432G>T (p.Glu144Asp)
n.617G>T
c.216G>T (p.Glu72Asp)
n.663G>T
c.132G>T (p.Glu44Asp)
n.656G>T
n.616G>T
1g.244863876C>GCA345497127HNRNPUc.110G>C
c.432G>C (p.Glu144Asp)
n.617G>C
c.216G>C (p.Glu72Asp)
n.663G>C
c.132G>C (p.Glu44Asp)
n.656G>C
n.616G>C
1g.244863876C>TCA424403100HNRNPUc.110G>A
c.432G>A (p.Glu144=)
n.617G>A
c.216G>A (p.Glu72=)
n.663G>A
c.132G>A (p.Glu44=)
n.656G>A
n.616G>A
 ClinVar
1g.244863876_244863879delinsCTCACA1231007488HNRNPUc.107_110delinsTGAG
c.429_432delinsTGAG (p.Asp143=)
n.614_617delinsTGAG
c.213_216delinsTGAG (p.Asp71=)
n.660_663delinsTGAG
c.129_132delinsTGAG (p.Asp43=)
n.653_656delinsTGAG
n.613_616delinsTGAG
1g.244863877T>ACA345497130HNRNPUc.109A>T
c.431A>T (p.Glu144Val)
n.616A>T
c.215A>T (p.Glu72Val)
n.662A>T
c.131A>T (p.Glu44Val)
n.655A>T
n.615A>T
1g.244863877T>CCA345497129HNRNPUc.109A>G
c.431A>G (p.Glu144Gly)
n.616A>G
c.215A>G (p.Glu72Gly)
n.662A>G
c.131A>G (p.Glu44Gly)
n.655A>G
n.615A>G
1g.244863877T>GCA345497128HNRNPUc.109A>C
c.431A>C (p.Glu144Ala)
n.616A>C
c.215A>C (p.Glu72Ala)
n.662A>C
c.131A>C (p.Glu44Ala)
n.655A>C
n.615A>C
1g.244863879_244863881delCA40505161HNRNPUc.107_109del
c.429_431del (p.Asp143del)
n.614_616del
c.213_215del (p.Asp71del)
n.660_662del
c.129_131del (p.Asp43del)
n.653_655del
n.613_615del
 dbSNP
1g.244863878C>ACA345497131HNRNPUc.108G>T
c.430G>T (p.Glu144Ter)
n.615G>T
c.214G>T (p.Glu72Ter)
n.661G>T
c.130G>T (p.Glu44Ter)
n.654G>T
n.614G>T
1g.244863878C>GCA345497132HNRNPUc.108G>C
c.430G>C (p.Glu144Gln)
n.615G>C
c.214G>C (p.Glu72Gln)
n.661G>C
c.130G>C (p.Glu44Gln)
n.654G>C
n.614G>C
1g.244863878C>TCA345497133HNRNPUc.108G>A
c.430G>A (p.Glu144Lys)
n.615G>A
c.214G>A (p.Glu72Lys)
n.661G>A
c.130G>A (p.Glu44Lys)
n.654G>A
n.614G>A
 COSMIC COSMIC
1g.244863879A=CA1146418130HNRNPUc.107T=
c.429T= (p.Asp143=)
n.614T=
c.213T= (p.Asp71=)
n.660T=
c.129T= (p.Asp43=)
n.653T=
n.613T=
1g.244863879A>CCA345497134HNRNPUc.107T>G
c.429T>G (p.Asp143Glu)
n.614T>G
c.213T>G (p.Asp71Glu)
n.660T>G
c.129T>G (p.Asp43Glu)
n.653T>G
n.613T>G
1g.244863879A>GCA1486802HNRNPUc.107T>C
c.429T>C (p.Asp143=)
n.614T>C
c.213T>C (p.Asp71=)
n.660T>C
c.129T>C (p.Asp43=)
n.653T>C
n.613T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863879A>TCA345497135HNRNPUc.107T>A
c.429T>A (p.Asp143Glu)
n.614T>A
c.213T>A (p.Asp71Glu)
n.660T>A
c.129T>A (p.Asp43Glu)
n.653T>A
n.613T>A
1g.244863880T>ACA345497136HNRNPUc.106A>T
c.428A>T (p.Asp143Val)
n.613A>T
c.212A>T (p.Asp71Val)
n.659A>T
c.128A>T (p.Asp43Val)
n.652A>T
n.612A>T
1g.244863880T>CCA345497138HNRNPUc.106A>G
c.428A>G (p.Asp143Gly)
n.613A>G
c.212A>G (p.Asp71Gly)
n.659A>G
c.128A>G (p.Asp43Gly)
n.652A>G
n.612A>G
 gnomAD v4
1g.244863880T>GCA345497137HNRNPUc.106A>C
c.428A>C (p.Asp143Ala)
n.613A>C
c.212A>C (p.Asp71Ala)
n.659A>C
c.128A>C (p.Asp43Ala)
n.652A>C
n.612A>C
1g.244863881C>ACA345497139HNRNPUc.105G>T
c.427G>T (p.Asp143Tyr)
n.612G>T
c.211G>T (p.Asp71Tyr)
n.658G>T
c.127G>T (p.Asp43Tyr)
n.651G>T
n.611G>T
1g.244863881C>GCA345497140HNRNPUc.105G>C
c.427G>C (p.Asp143His)
n.612G>C
c.211G>C (p.Asp71His)
n.658G>C
c.127G>C (p.Asp43His)
n.651G>C
n.611G>C
1g.244863881C>TCA345497141HNRNPUc.105G>A
c.427G>A (p.Asp143Asn)
n.612G>A
c.211G>A (p.Asp71Asn)
n.658G>A
c.127G>A (p.Asp43Asn)
n.651G>A
n.611G>A
1g.244863882T>ACA345497142HNRNPUc.104A>T
c.426A>T (p.Glu142Asp)
n.611A>T
c.210A>T (p.Glu70Asp)
n.657A>T
c.126A>T (p.Glu42Asp)
n.650A>T
n.610A>T
1g.244863882T>CCA424403141HNRNPUc.104A>G
c.426A>G (p.Glu142=)
n.611A>G
c.210A>G (p.Glu70=)
n.657A>G
c.126A>G (p.Glu42=)
n.650A>G
n.610A>G
1g.244863882T>GCA345497143HNRNPUc.104A>C
c.426A>C (p.Glu142Asp)
n.611A>C
c.210A>C (p.Glu70Asp)
n.657A>C
c.126A>C (p.Glu42Asp)
n.650A>C
n.610A>C
 dbSNP gnomAD v4
1g.244863882T=CA1231007489HNRNPUc.104A=
c.426A= (p.Glu142=)
n.611A=
c.210A= (p.Glu70=)
n.657A=
c.126A= (p.Glu42=)
n.650A=
n.610A=
1g.244863883T>ACA345497144HNRNPUc.103A>T
c.425A>T (p.Glu142Val)
n.610A>T
c.209A>T (p.Glu70Val)
n.656A>T
c.125A>T (p.Glu42Val)
n.649A>T
n.609A>T
1g.244863883T>CCA345497145HNRNPUc.103A>G
c.425A>G (p.Glu142Gly)
n.610A>G
c.209A>G (p.Glu70Gly)
n.656A>G
c.125A>G (p.Glu42Gly)
n.649A>G
n.609A>G
1g.244863883T>GCA345497146HNRNPUc.103A>C
c.425A>C (p.Glu142Ala)
n.610A>C
c.209A>C (p.Glu70Ala)
n.656A>C
c.125A>C (p.Glu42Ala)
n.649A>C
n.609A>C
1g.244863884C>ACA345497147HNRNPUc.102G>T
c.424G>T (p.Glu142Ter)
n.609G>T
c.208G>T (p.Glu70Ter)
n.655G>T
c.124G>T (p.Glu42Ter)
n.648G>T
n.608G>T
 dbSNP
1g.244863884C=CA1231007490HNRNPUc.102G=
c.424G= (p.Glu142=)
n.609G=
c.208G= (p.Glu70=)
n.655G=
c.124G= (p.Glu42=)
n.648G=
n.608G=
1g.244863884C>GCA345497148HNRNPUc.102G>C
c.424G>C (p.Glu142Gln)
n.609G>C
c.208G>C (p.Glu70Gln)
n.655G>C
c.124G>C (p.Glu42Gln)
n.648G>C
n.608G>C
1g.244863884C>TCA345497149HNRNPUc.102G>A
c.424G>A (p.Glu142Lys)
n.609G>A
c.208G>A (p.Glu70Lys)
n.655G>A
c.124G>A (p.Glu42Lys)
n.648G>A
n.608G>A
1g.244863885C>ACA1486803HNRNPUc.101G>T
c.423G>T (p.Gly141=)
n.608G>T
c.207G>T (p.Gly69=)
n.654G>T
c.123G>T (p.Gly41=)
n.647G>T
n.607G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863885C=CA1231007491HNRNPUc.101G=
c.423G= (p.Gly141=)
n.608G=
c.207G= (p.Gly69=)
n.654G=
c.123G= (p.Gly41=)
n.647G=
n.607G=
1g.244863885C>GCA424403154HNRNPUc.101G>C
c.423G>C (p.Gly141=)
n.608G>C
c.207G>C (p.Gly69=)
n.654G>C
c.123G>C (p.Gly41=)
n.647G>C
n.607G>C
 dbSNP
1g.244863885C>TCA424403157HNRNPUc.101G>A
c.423G>A (p.Gly141=)
n.608G>A
c.207G>A (p.Gly69=)
n.654G>A
c.123G>A (p.Gly41=)
n.647G>A
n.607G>A
 dbSNP gnomAD v4
1g.244863886C>ACA345497152HNRNPUc.100G>T
c.422G>T (p.Gly141Val)
n.607G>T
c.206G>T (p.Gly69Val)
n.653G>T
c.122G>T (p.Gly41Val)
n.646G>T
n.606G>T
1g.244863886C>GCA345497151HNRNPUc.100G>C
c.422G>C (p.Gly141Ala)
n.607G>C
c.206G>C (p.Gly69Ala)
n.653G>C
c.122G>C (p.Gly41Ala)
n.646G>C
n.606G>C
1g.244863886C>TCA345497150HNRNPUc.100G>A
c.422G>A (p.Gly141Glu)
n.607G>A
c.206G>A (p.Gly69Glu)
n.653G>A
c.122G>A (p.Gly41Glu)
n.646G>A
n.606G>A
 gnomAD v4
1g.244863886_244863887delinsTTCA645532141HNRNPUc.99_100delinsAA
c.421_422delinsAA (p.Gly141Lys)
n.606_607delinsAA
c.205_206delinsAA (p.Gly69Lys)
n.652_653delinsAA
c.121_122delinsAA (p.Gly41Lys)
n.645_646delinsAA
n.605_606delinsAA
 COSMIC COSMIC
1g.244863887C>ACA345497153HNRNPUc.99G>T
c.421G>T (p.Gly141Trp)
n.606G>T
c.205G>T (p.Gly69Trp)
n.652G>T
c.121G>T (p.Gly41Trp)
n.645G>T
n.605G>T
1g.244863887C>GCA345497155HNRNPUc.99G>C
c.421G>C (p.Gly141Arg)
n.606G>C
c.205G>C (p.Gly69Arg)
n.652G>C
c.121G>C (p.Gly41Arg)
n.645G>C
n.605G>C
1g.244863887C>TCA345497154HNRNPUc.99G>A
c.421G>A (p.Gly141Arg)
n.606G>A
c.205G>A (p.Gly69Arg)
n.652G>A
c.121G>A (p.Gly41Arg)
n.645G>A
n.605G>A
 ClinVar
1g.244863888T>ACA345497156HNRNPUc.98A>T
c.420A>T (p.Glu140Asp)
n.605A>T
c.204A>T (p.Glu68Asp)
n.651A>T
c.120A>T (p.Glu40Asp)
n.644A>T
n.604A>T
1g.244863888T>CCA424403168HNRNPUc.98A>G
c.420A>G (p.Glu140=)
n.605A>G
c.204A>G (p.Glu68=)
n.651A>G
c.120A>G (p.Glu40=)
n.644A>G
n.604A>G
1g.244863888T>GCA345497157HNRNPUc.98A>C
c.420A>C (p.Glu140Asp)
n.605A>C
c.204A>C (p.Glu68Asp)
n.651A>C
c.120A>C (p.Glu40Asp)
n.644A>C
n.604A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.244863888T=CA1231007492HNRNPUc.98A=
c.420A= (p.Glu140=)
n.605A=
c.204A= (p.Glu68=)
n.651A=
c.120A= (p.Glu40=)
n.644A=
n.604A=
1g.244863889T>ACA345497158HNRNPUc.97A>T
c.419A>T (p.Glu140Val)
n.604A>T
c.203A>T (p.Glu68Val)
n.650A>T
c.119A>T (p.Glu40Val)
n.643A>T
n.603A>T
1g.244863889T>CCA345497159HNRNPUc.97A>G
c.419A>G (p.Glu140Gly)
n.604A>G
c.203A>G (p.Glu68Gly)
n.650A>G
c.119A>G (p.Glu40Gly)
n.643A>G
n.603A>G
1g.244863889T>GCA345497160HNRNPUc.97A>C
c.419A>C (p.Glu140Ala)
n.604A>C
c.203A>C (p.Glu68Ala)
n.650A>C
c.119A>C (p.Glu40Ala)
n.643A>C
n.603A>C
1g.244863890C>ACA345497161HNRNPUc.96G>T
c.418G>T (p.Glu140Ter)
n.603G>T
c.202G>T (p.Glu68Ter)
n.649G>T
c.118G>T (p.Glu40Ter)
n.642G>T
n.602G>T
1g.244863890C=CA1231007493HNRNPUc.96G=
c.418G= (p.Glu140=)
n.603G=
c.202G= (p.Glu68=)
n.649G=
c.118G= (p.Glu40=)
n.642G=
n.602G=
1g.244863890C>GCA345497162HNRNPUc.96G>C
c.418G>C (p.Glu140Gln)
n.603G>C
c.202G>C (p.Glu68Gln)
n.649G>C
c.118G>C (p.Glu40Gln)
n.642G>C
n.602G>C
1g.244863890C>TCA345497163HNRNPUc.96G>A
c.418G>A (p.Glu140Lys)
n.603G>A
c.202G>A (p.Glu68Lys)
n.649G>A
c.118G>A (p.Glu40Lys)
n.642G>A
n.602G>A
 ClinVar dbSNP gnomAD v4
1g.244863891C>ACA345497164HNRNPUc.95G>T
c.417G>T (p.Gln139His)
n.602G>T
c.201G>T (p.Gln67His)
n.648G>T
c.117G>T (p.Gln39His)
n.641G>T
n.601G>T
1g.244863891C>GCA345497165HNRNPUc.95G>C
c.417G>C (p.Gln139His)
n.602G>C
c.201G>C (p.Gln67His)
n.648G>C
c.117G>C (p.Gln39His)
n.641G>C
n.601G>C
1g.244863891C>TCA424403173HNRNPUc.95G>A
c.417G>A (p.Gln139=)
n.602G>A
c.201G>A (p.Gln67=)
n.648G>A
c.117G>A (p.Gln39=)
n.641G>A
n.601G>A
 ClinVar
1g.244863892T>ACA1486804HNRNPUc.94A>T
c.416A>T (p.Gln139Leu)
n.601A>T
c.200A>T (p.Gln67Leu)
n.647A>T
c.116A>T (p.Gln39Leu)
n.640A>T
n.600A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863892T>CCA345497166HNRNPUc.94A>G
c.416A>G (p.Gln139Arg)
n.601A>G
c.200A>G (p.Gln67Arg)
n.647A>G
c.116A>G (p.Gln39Arg)
n.640A>G
n.600A>G
1g.244863892T>GCA345497167HNRNPUc.94A>C
c.416A>C (p.Gln139Pro)
n.601A>C
c.200A>C (p.Gln67Pro)
n.647A>C
c.116A>C (p.Gln39Pro)
n.640A>C
n.600A>C
1g.244863892T=CA1149116145HNRNPUc.94A=
c.416A= (p.Gln139=)
n.601A=
c.200A= (p.Gln67=)
n.647A=
c.116A= (p.Gln39=)
n.640A=
n.600A=
1g.244863893G>ACA345497170HNRNPUc.93C>T
c.415C>T (p.Gln139Ter)
n.600C>T
c.199C>T (p.Gln67Ter)
n.646C>T
c.115C>T (p.Gln39Ter)
n.639C>T
n.599C>T
 ClinVar dbSNP
1g.244863893G>CCA345497168HNRNPUc.93C>G
c.415C>G (p.Gln139Glu)
n.600C>G
c.199C>G (p.Gln67Glu)
n.646C>G
c.115C>G (p.Gln39Glu)
n.639C>G
n.599C>G
1g.244863893G=CA1231007494HNRNPUc.93C=
c.415C= (p.Gln139=)
n.600C=
c.199C= (p.Gln67=)
n.646C=
c.115C= (p.Gln39=)
n.639C=
n.599C=
1g.244863893G>TCA345497169HNRNPUc.93C>A
c.415C>A (p.Gln139Lys)
n.600C>A
c.199C>A (p.Gln67Lys)
n.646C>A
c.115C>A (p.Gln39Lys)
n.639C>A
n.599C>A
1g.244863894G>ACA424403181HNRNPUc.92C>T
c.414C>T (p.Phe138=)
n.599C>T
c.198C>T (p.Phe66=)
n.645C>T
c.114C>T (p.Phe38=)
n.638C>T
n.598C>T
1g.244863894G>CCA345497171HNRNPUc.92C>G
c.414C>G (p.Phe138Leu)
n.599C>G
c.198C>G (p.Phe66Leu)
n.645C>G
c.114C>G (p.Phe38Leu)
n.638C>G
n.598C>G
1g.244863894G>TCA345497172HNRNPUc.92C>A
c.414C>A (p.Phe138Leu)
n.599C>A
c.198C>A (p.Phe66Leu)
n.645C>A
c.114C>A (p.Phe38Leu)
n.638C>A
n.598C>A
1g.244863895A>CCA345497173HNRNPUc.91T>G
c.413T>G (p.Phe138Cys)
n.598T>G
c.197T>G (p.Phe66Cys)
n.644T>G
c.113T>G (p.Phe38Cys)
n.637T>G
n.597T>G
1g.244863895A>GCA345497174HNRNPUc.91T>C
c.413T>C (p.Phe138Ser)
n.598T>C
c.197T>C (p.Phe66Ser)
n.644T>C
c.113T>C (p.Phe38Ser)
n.637T>C
n.597T>C
 gnomAD v4
1g.244863895A>TCA345497175HNRNPUc.91T>A
c.413T>A (p.Phe138Tyr)
n.598T>A
c.197T>A (p.Phe66Tyr)
n.644T>A
c.113T>A (p.Phe38Tyr)
n.637T>A
n.597T>A
1g.244863896A>CCA345497176HNRNPUc.90T>G
c.412T>G (p.Phe138Val)
n.597T>G
c.196T>G (p.Phe66Val)
n.643T>G
c.112T>G (p.Phe38Val)
n.636T>G
n.596T>G
1g.244863896A>GCA345497177HNRNPUc.90T>C
c.412T>C (p.Phe138Leu)
n.597T>C
c.196T>C (p.Phe66Leu)
n.643T>C
c.112T>C (p.Phe38Leu)
n.636T>C
n.596T>C
1g.244863896A>TCA345497178HNRNPUc.90T>A
c.412T>A (p.Phe138Ile)
n.597T>A
c.196T>A (p.Phe66Ile)
n.643T>A
c.112T>A (p.Phe38Ile)
n.636T>A
n.596T>A
1g.244863897A>CCA424403196HNRNPUc.89T>G
c.411T>G (p.Gly137=)
n.596T>G
c.195T>G (p.Gly65=)
n.642T>G
c.111T>G (p.Gly37=)
n.635T>G
n.595T>G
1g.244863897A>GCA424403197HNRNPUc.89T>C
c.411T>C (p.Gly137=)
n.596T>C
c.195T>C (p.Gly65=)
n.642T>C
c.111T>C (p.Gly37=)
n.635T>C
n.595T>C
1g.244863897A>TCA424403198HNRNPUc.89T>A
c.411T>A (p.Gly137=)
n.596T>A
c.195T>A (p.Gly65=)
n.642T>A
c.111T>A (p.Gly37=)
n.635T>A
n.595T>A
1g.244863898C>ACA345497179HNRNPUc.88G>T
c.410G>T (p.Gly137Val)
n.595G>T
c.194G>T (p.Gly65Val)
n.641G>T
c.110G>T (p.Gly37Val)
n.634G>T
n.594G>T
1g.244863898C>GCA345497180HNRNPUc.88G>C
c.410G>C (p.Gly137Ala)
n.595G>C
c.194G>C (p.Gly65Ala)
n.641G>C
c.110G>C (p.Gly37Ala)
n.634G>C
n.594G>C
1g.244863898C>TCA345497181HNRNPUc.88G>A
c.410G>A (p.Gly137Asp)
n.595G>A
c.194G>A (p.Gly65Asp)
n.641G>A
c.110G>A (p.Gly37Asp)
n.634G>A
n.594G>A
 gnomAD v4
1g.244863899C>ACA345497183HNRNPUc.87G>T
c.409G>T (p.Gly137Cys)
n.594G>T
c.193G>T (p.Gly65Cys)
n.640G>T
c.109G>T (p.Gly37Cys)
n.633G>T
n.593G>T
1g.244863899C=CA1231007495HNRNPUc.87G=
c.409G= (p.Gly137=)
n.594G=
c.193G= (p.Gly65=)
n.640G=
c.109G= (p.Gly37=)
n.633G=
n.593G=
1g.244863899C>GCA1486805HNRNPUc.87G>C
c.409G>C (p.Gly137Arg)
n.594G>C
c.193G>C (p.Gly65Arg)
n.640G>C
c.109G>C (p.Gly37Arg)
n.633G>C
n.593G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863899C>TCA345497182HNRNPUc.87G>A
c.409G>A (p.Gly137Ser)
n.594G>A
c.193G>A (p.Gly65Ser)
n.640G>A
c.109G>A (p.Gly37Ser)
n.633G>A
n.593G>A
1g.244863900C>ACA345497184HNRNPUc.86G>T
c.408G>T (p.Gln136His)
n.593G>T
c.192G>T (p.Gln64His)
n.639G>T
c.108G>T (p.Gln36His)
n.632G>T
n.592G>T
1g.244863900C=CA1231007496HNRNPUc.86G=
c.408G= (p.Gln136=)
n.593G=
c.192G= (p.Gln64=)
n.639G=
c.108G= (p.Gln36=)
n.632G=
n.592G=
1g.244863900C>GCA345497185HNRNPUc.86G>C
c.408G>C (p.Gln136His)
n.593G>C
c.192G>C (p.Gln64His)
n.639G>C
c.108G>C (p.Gln36His)
n.632G>C
n.592G>C
 gnomAD v4
1g.244863900C>TCA40505179HNRNPUc.86G>A
c.408G>A (p.Gln136=)
n.593G>A
c.192G>A (p.Gln64=)
n.639G>A
c.108G>A (p.Gln36=)
n.632G>A
n.592G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863901T>ACA345497186HNRNPUc.85A>T
c.407A>T (p.Gln136Leu)
n.592A>T
c.191A>T (p.Gln64Leu)
n.638A>T
c.107A>T (p.Gln36Leu)
n.631A>T
n.591A>T
1g.244863901T>CCA345497187HNRNPUc.85A>G
c.407A>G (p.Gln136Arg)
n.592A>G
c.191A>G (p.Gln64Arg)
n.638A>G
c.107A>G (p.Gln36Arg)
n.631A>G
n.591A>G
1g.244863901T>GCA345497188HNRNPUc.85A>C
c.407A>C (p.Gln136Pro)
n.592A>C
c.191A>C (p.Gln64Pro)
n.638A>C
c.107A>C (p.Gln36Pro)
n.631A>C
n.591A>C
1g.244863902G>ACA345497191HNRNPUc.84C>T
c.406C>T (p.Gln136Ter)
n.591C>T
c.190C>T (p.Gln64Ter)
n.637C>T
c.106C>T (p.Gln36Ter)
n.630C>T
n.590C>T
1g.244863902G>CCA345497190HNRNPUc.84C>G
c.406C>G (p.Gln136Glu)
n.591C>G
c.190C>G (p.Gln64Glu)
n.637C>G
c.106C>G (p.Gln36Glu)
n.630C>G
n.590C>G
1g.244863902G>TCA345497189HNRNPUc.84C>A
c.406C>A (p.Gln136Lys)
n.591C>A
c.190C>A (p.Gln64Lys)
n.637C>A
c.106C>A (p.Gln36Lys)
n.630C>A
n.590C>A
1g.244863903A=CA1231007497HNRNPUc.83T=
c.405T= (p.Asp135=)
n.590T=
c.189T= (p.Asp63=)
n.636T=
c.105T= (p.Asp35=)
n.629T=
n.589T=
1g.244863903A>CCA345497192HNRNPUc.83T>G
c.405T>G (p.Asp135Glu)
n.590T>G
c.189T>G (p.Asp63Glu)
n.636T>G
c.105T>G (p.Asp35Glu)
n.629T>G
n.589T>G
1g.244863903A>GCA1486806HNRNPUc.83T>C
c.405T>C (p.Asp135=)
n.590T>C
c.189T>C (p.Asp63=)
n.636T>C
c.105T>C (p.Asp35=)
n.629T>C
n.589T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863903A>TCA345497193HNRNPUc.83T>A
c.405T>A (p.Asp135Glu)
n.590T>A
c.189T>A (p.Asp63Glu)
n.636T>A
c.105T>A (p.Asp35Glu)
n.629T>A
n.589T>A
1g.244863904T>ACA345497194HNRNPUc.82A>T
c.404A>T (p.Asp135Val)
n.589A>T
c.188A>T (p.Asp63Val)
n.635A>T
c.104A>T (p.Asp35Val)
n.628A>T
n.588A>T
1g.244863904T>CCA345497195HNRNPUc.82A>G
c.404A>G (p.Asp135Gly)
n.589A>G
c.188A>G (p.Asp63Gly)
n.635A>G
c.104A>G (p.Asp35Gly)
n.628A>G
n.588A>G
1g.244863904T>GCA345497196HNRNPUc.82A>C
c.404A>C (p.Asp135Ala)
n.589A>C
c.188A>C (p.Asp63Ala)
n.635A>C
c.104A>C (p.Asp35Ala)
n.628A>C
n.588A>C
1g.244863905C>ACA345497197HNRNPUc.81G>T
c.403G>T (p.Asp135Tyr)
n.588G>T
c.187G>T (p.Asp63Tyr)
n.634G>T
c.103G>T (p.Asp35Tyr)
n.627G>T
n.587G>T
1g.244863905C>GCA345497199HNRNPUc.81G>C
c.403G>C (p.Asp135His)
n.588G>C
c.187G>C (p.Asp63His)
n.634G>C
c.103G>C (p.Asp35His)
n.627G>C
n.587G>C
1g.244863905C>TCA345497198HNRNPUc.81G>A
c.403G>A (p.Asp135Asn)
n.588G>A
c.187G>A (p.Asp63Asn)
n.634G>A
c.103G>A (p.Asp35Asn)
n.627G>A
n.587G>A
1g.244863905_244863907delinsCGTCA1231007498HNRNPUc.79_81delinsACG
c.401_403delinsACG (p.Asp134=)
n.586_588delinsACG
c.185_187delinsACG (p.Asp62=)
n.632_634delinsACG
c.101_103delinsACG (p.Asp34=)
n.625_627delinsACG
n.585_587delinsACG
1g.244863906G>ACA424403224HNRNPUc.80C>T
c.402C>T (p.Asp134=)
n.587C>T
c.186C>T (p.Asp62=)
n.633C>T
c.102C>T (p.Asp34=)
n.626C>T
n.586C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863906G>CCA345497200HNRNPUc.80C>G
c.402C>G (p.Asp134Glu)
n.587C>G
c.186C>G (p.Asp62Glu)
n.633C>G
c.102C>G (p.Asp34Glu)
n.626C>G
n.586C>G
1g.244863906G=CA1231007499HNRNPUc.80C=
c.402C= (p.Asp134=)
n.587C=
c.186C= (p.Asp62=)
n.633C=
c.102C= (p.Asp34=)
n.626C=
n.586C=
1g.244863906G>TCA345497201HNRNPUc.80C>A
c.402C>A (p.Asp134Glu)
n.587C>A
c.186C>A (p.Asp62Glu)
n.633C>A
c.102C>A (p.Asp34Glu)
n.626C>A
n.586C>A
1g.244863906_244863907delCA658683174HNRNPUc.79_80del
c.401_402del (p.Asp134GlyfsTer10)
n.586_587del
c.185_186del (p.Asp62GlyfsTer10)
n.632_633del
c.101_102del (p.Asp34GlyfsTer10)
n.625_626del
n.585_586del
 ClinVar dbSNP
1g.244863907T>ACA345497202HNRNPUc.79A>T
c.401A>T (p.Asp134Val)
n.586A>T
c.185A>T (p.Asp62Val)
n.632A>T
c.101A>T (p.Asp34Val)
n.625A>T
n.585A>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863907T>CCA345497203HNRNPUc.79A>G
c.401A>G (p.Asp134Gly)
n.586A>G
c.185A>G (p.Asp62Gly)
n.632A>G
c.101A>G (p.Asp34Gly)
n.625A>G
n.585A>G
1g.244863907T>GCA345497204HNRNPUc.79A>C
c.401A>C (p.Asp134Ala)
n.586A>C
c.185A>C (p.Asp62Ala)
n.632A>C
c.101A>C (p.Asp34Ala)
n.625A>C
n.585A>C
1g.244863907T=CA1231007500HNRNPUc.79A=
c.401A= (p.Asp134=)
n.586A=
c.185A= (p.Asp62=)
n.632A=
c.101A= (p.Asp34=)
n.625A=
n.585A=
1g.244863909_244863915delCA658764575HNRNPUc.73_79del
c.395_401del (p.Asn132ThrfsTer?)
n.580_586del
c.179_185del (p.Asn60ThrfsTer?)
n.626_632del
c.95_101del (p.Asn32ThrfsTer?)
n.619_625del
n.579_585del
1g.244863908C>ACA345497205HNRNPUc.78G>T
c.400G>T (p.Asp134Tyr)
n.585G>T
c.184G>T (p.Asp62Tyr)
n.631G>T
c.100G>T (p.Asp34Tyr)
n.624G>T
n.584G>T
1g.244863908C>GCA345497206HNRNPUc.78G>C
c.400G>C (p.Asp134His)
n.585G>C
c.184G>C (p.Asp62His)
n.631G>C
c.100G>C (p.Asp34His)
n.624G>C
n.584G>C
1g.244863908C>TCA345497207HNRNPUc.78G>A
c.400G>A (p.Asp134Asn)
n.585G>A
c.184G>A (p.Asp62Asn)
n.631G>A
c.100G>A (p.Asp34Asn)
n.624G>A
n.584G>A
1g.244863909G>ACA424403232HNRNPUc.77C>T
c.399C>T (p.Gly133=)
n.584C>T
c.183C>T (p.Gly61=)
n.630C>T
c.99C>T (p.Gly33=)
n.623C>T
n.583C>T
 gnomAD v4
1g.244863909G>CCA424403240HNRNPUc.77C>G
c.399C>G (p.Gly133=)
n.584C>G
c.183C>G (p.Gly61=)
n.630C>G
c.99C>G (p.Gly33=)
n.623C>G
n.583C>G
1g.244863909G>TCA424403238HNRNPUc.77C>A
c.399C>A (p.Gly133=)
n.584C>A
c.183C>A (p.Gly61=)
n.630C>A
c.99C>A (p.Gly33=)
n.623C>A
n.583C>A
1g.244863910C>ACA345497208HNRNPUc.76G>T
c.398G>T (p.Gly133Val)
n.583G>T
c.182G>T (p.Gly61Val)
n.629G>T
c.98G>T (p.Gly33Val)
n.622G>T
n.582G>T
1g.244863910C>GCA345497209HNRNPUc.76G>C
c.398G>C (p.Gly133Ala)
n.583G>C
c.182G>C (p.Gly61Ala)
n.629G>C
c.98G>C (p.Gly33Ala)
n.622G>C
n.582G>C
1g.244863910C>TCA345497210HNRNPUc.76G>A
c.398G>A (p.Gly133Asp)
n.583G>A
c.182G>A (p.Gly61Asp)
n.629G>A
c.98G>A (p.Gly33Asp)
n.622G>A
n.582G>A
1g.244863911C>ACA345497213HNRNPUc.75G>T
c.397G>T (p.Gly133Cys)
n.582G>T
c.181G>T (p.Gly61Cys)
n.628G>T
c.97G>T (p.Gly33Cys)
n.621G>T
n.581G>T
1g.244863911C>GCA345497212HNRNPUc.75G>C
c.397G>C (p.Gly133Arg)
n.582G>C
c.181G>C (p.Gly61Arg)
n.628G>C
c.97G>C (p.Gly33Arg)
n.621G>C
n.581G>C
1g.244863911C>TCA345497211HNRNPUc.75G>A
c.397G>A (p.Gly133Ser)
n.582G>A
c.181G>A (p.Gly61Ser)
n.628G>A
c.97G>A (p.Gly33Ser)
n.621G>A
n.581G>A
1g.244863912G>ACA424403247HNRNPUc.74C>T
c.396C>T (p.Asn132=)
n.581C>T
c.180C>T (p.Asn60=)
n.627C>T
c.96C>T (p.Asn32=)
n.620C>T
n.580C>T
1g.244863912G>CCA345497214HNRNPUc.74C>G
c.396C>G (p.Asn132Lys)
n.581C>G
c.180C>G (p.Asn60Lys)
n.627C>G
c.96C>G (p.Asn32Lys)
n.620C>G
n.580C>G
1g.244863912G=CA1231007501HNRNPUc.74C=
c.396C= (p.Asn132=)
n.581C=
c.180C= (p.Asn60=)
n.627C=
c.96C= (p.Asn32=)
n.620C=
n.580C=
1g.244863912G>TCA345497215HNRNPUc.74C>A
c.396C>A (p.Asn132Lys)
n.581C>A
c.180C>A (p.Asn60Lys)
n.627C>A
c.96C>A (p.Asn32Lys)
n.620C>A
n.580C>A
 dbSNP gnomAD v4
1g.244863913T>ACA345497216HNRNPUc.73A>T
c.395A>T (p.Asn132Ile)
n.580A>T
c.179A>T (p.Asn60Ile)
n.626A>T
c.95A>T (p.Asn32Ile)
n.619A>T
n.579A>T
1g.244863913T>CCA345497217HNRNPUc.73A>G
c.395A>G (p.Asn132Ser)
n.580A>G
c.179A>G (p.Asn60Ser)
n.626A>G
c.95A>G (p.Asn32Ser)
n.619A>G
n.579A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863913T>GCA345497218HNRNPUc.73A>C
c.395A>C (p.Asn132Thr)
n.580A>C
c.179A>C (p.Asn60Thr)
n.626A>C
c.95A>C (p.Asn32Thr)
n.619A>C
n.579A>C
1g.244863913T=CA1231007502HNRNPUc.73A=
c.395A= (p.Asn132=)
n.580A=
c.179A= (p.Asn60=)
n.626A=
c.95A= (p.Asn32=)
n.619A=
n.579A=
1g.244863914T>ACA345497219HNRNPUc.72A>T
c.394A>T (p.Asn132Tyr)
n.579A>T
c.178A>T (p.Asn60Tyr)
n.625A>T
c.94A>T (p.Asn32Tyr)
n.618A>T
n.578A>T
1g.244863914T>CCA345497220HNRNPUc.72A>G
c.394A>G (p.Asn132Asp)
n.579A>G
c.178A>G (p.Asn60Asp)
n.625A>G
c.94A>G (p.Asn32Asp)
n.618A>G
n.578A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863914T>GCA345497221HNRNPUc.72A>C
c.394A>C (p.Asn132His)
n.579A>C
c.178A>C (p.Asn60His)
n.625A>C
c.94A>C (p.Asn32His)
n.618A>C
n.578A>C
1g.244863914T=CA1231007503HNRNPUc.72A=
c.394A= (p.Asn132=)
n.579A=
c.178A= (p.Asn60=)
n.625A=
c.94A= (p.Asn32=)
n.618A=
n.578A=
1g.244863915C>ACA345497222HNRNPUc.71G>T
c.393G>T (p.Glu131Asp)
n.578G>T
c.177G>T (p.Glu59Asp)
n.624G>T
c.93G>T (p.Glu31Asp)
n.617G>T
n.577G>T
1g.244863915C=CA1231007504HNRNPUc.71G=
c.393G= (p.Glu131=)
n.578G=
c.177G= (p.Glu59=)
n.624G=
c.93G= (p.Glu31=)
n.617G=
n.577G=
1g.244863915C>GCA345497223HNRNPUc.71G>C
c.393G>C (p.Glu131Asp)
n.578G>C
c.177G>C (p.Glu59Asp)
n.624G>C
c.93G>C (p.Glu31Asp)
n.617G>C
n.577G>C
 COSMIC COSMIC
1g.244863915C>TCA424403261HNRNPUc.71G>A
c.393G>A (p.Glu131=)
n.578G>A
c.177G>A (p.Glu59=)
n.624G>A
c.93G>A (p.Glu31=)
n.617G>A
n.577G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863916T>ACA345497224HNRNPUc.70A>T
c.392A>T (p.Glu131Val)
n.577A>T
c.176A>T (p.Glu59Val)
n.623A>T
c.92A>T (p.Glu31Val)
n.616A>T
n.576A>T
1g.244863916T>CCA345497225HNRNPUc.70A>G
c.392A>G (p.Glu131Gly)
n.577A>G
c.176A>G (p.Glu59Gly)
n.623A>G
c.92A>G (p.Glu31Gly)
n.616A>G
n.576A>G
1g.244863916T>GCA345497226HNRNPUc.70A>C
c.392A>C (p.Glu131Ala)
n.577A>C
c.176A>C (p.Glu59Ala)
n.623A>C
c.92A>C (p.Glu31Ala)
n.616A>C
n.576A>C
1g.244863917C>ACA345497229HNRNPUc.69G>T
c.391G>T (p.Glu131Ter)
n.576G>T
c.175G>T (p.Glu59Ter)
n.622G>T
c.91G>T (p.Glu31Ter)
n.615G>T
n.575G>T
 COSMIC
1g.244863917C=CA1231007505HNRNPUc.69G=
c.391G= (p.Glu131=)
n.576G=
c.175G= (p.Glu59=)
n.622G=
c.91G= (p.Glu31=)
n.615G=
n.575G=
1g.244863917C>GCA345497228HNRNPUc.69G>C
c.391G>C (p.Glu131Gln)
n.576G>C
c.175G>C (p.Glu59Gln)
n.622G>C
c.91G>C (p.Glu31Gln)
n.615G>C
n.575G>C
 dbSNP gnomAD v2 gnomAD v4
1g.244863917C>TCA345497227HNRNPUc.69G>A
c.391G>A (p.Glu131Lys)
n.576G>A
c.175G>A (p.Glu59Lys)
n.622G>A
c.91G>A (p.Glu31Lys)
n.615G>A
n.575G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863918G>ACA1486807HNRNPUc.68C>T
c.390C>T (p.Asp130=)
n.575C>T
c.174C>T (p.Asp58=)
n.621C>T
c.90C>T (p.Asp30=)
n.614C>T
n.574C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863918G>CCA345497230HNRNPUc.68C>G
c.390C>G (p.Asp130Glu)
n.575C>G
c.174C>G (p.Asp58Glu)
n.621C>G
c.90C>G (p.Asp30Glu)
n.614C>G
n.574C>G
1g.244863918G=CA1143437944HNRNPUc.68C=
c.390C= (p.Asp130=)
n.575C=
c.174C= (p.Asp58=)
n.621C=
c.90C= (p.Asp30=)
n.614C=
n.574C=
1g.244863918G>TCA345497231HNRNPUc.68C>A
c.390C>A (p.Asp130Glu)
n.575C>A
c.174C>A (p.Asp58Glu)
n.621C>A
c.90C>A (p.Asp30Glu)
n.614C>A
n.574C>A
1g.244863919T>ACA345497232HNRNPUc.67A>T
c.389A>T (p.Asp130Val)
n.574A>T
c.173A>T (p.Asp58Val)
n.620A>T
c.89A>T (p.Asp30Val)
n.613A>T
n.573A>T
1g.244863919T>CCA1486808HNRNPUc.67A>G
c.389A>G (p.Asp130Gly)
n.574A>G
c.173A>G (p.Asp58Gly)
n.620A>G
c.89A>G (p.Asp30Gly)
n.613A>G
n.573A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863919T>GCA345497233HNRNPUc.67A>C
c.389A>C (p.Asp130Ala)
n.574A>C
c.173A>C (p.Asp58Ala)
n.620A>C
c.89A>C (p.Asp30Ala)
n.613A>C
n.573A>C
1g.244863919T=CA1231007506HNRNPUc.67A=
c.389A= (p.Asp130=)
n.574A=
c.173A= (p.Asp58=)
n.620A=
c.89A= (p.Asp30=)
n.613A=
n.573A=
1g.244863920C>ACA345497234HNRNPUc.66G>T
c.388G>T (p.Asp130Tyr)
n.573G>T
c.172G>T (p.Asp58Tyr)
n.619G>T
c.88G>T (p.Asp30Tyr)
n.612G>T
n.572G>T
1g.244863920C=CA1231007507HNRNPUc.66G=
c.388G= (p.Asp130=)
n.573G=
c.172G= (p.Asp58=)
n.619G=
c.88G= (p.Asp30=)
n.612G=
n.572G=
1g.244863920C>GCA345497235HNRNPUc.66G>C
c.388G>C (p.Asp130His)
n.573G>C
c.172G>C (p.Asp58His)
n.619G>C
c.88G>C (p.Asp30His)
n.612G>C
n.572G>C
1g.244863920C>TCA345497236HNRNPUc.66G>A
c.388G>A (p.Asp130Asn)
n.573G>A
c.172G>A (p.Asp58Asn)
n.619G>A
c.88G>A (p.Asp30Asn)
n.612G>A
n.572G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863921T>ACA345497237HNRNPUc.65A>T
c.387A>T (p.Glu129Asp)
n.572A>T
c.171A>T (p.Glu57Asp)
n.618A>T
c.87A>T (p.Glu29Asp)
n.611A>T
n.571A>T
1g.244863921T>CCA424403284HNRNPUc.65A>G
c.387A>G (p.Glu129=)
n.572A>G
c.171A>G (p.Glu57=)
n.618A>G
c.87A>G (p.Glu29=)
n.611A>G
n.571A>G
1g.244863921T>GCA345497238HNRNPUc.65A>C
c.387A>C (p.Glu129Asp)
n.572A>C
c.171A>C (p.Glu57Asp)
n.618A>C
c.87A>C (p.Glu29Asp)
n.611A>C
n.571A>C
1g.244863922T>ACA345497239HNRNPUc.64A>T
c.386A>T (p.Glu129Val)
n.571A>T
c.170A>T (p.Glu57Val)
n.617A>T
c.86A>T (p.Glu29Val)
n.610A>T
n.570A>T
1g.244863922T>CCA345497240HNRNPUc.64A>G
c.386A>G (p.Glu129Gly)
n.571A>G
c.170A>G (p.Glu57Gly)
n.617A>G
c.86A>G (p.Glu29Gly)
n.610A>G
n.570A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863922T>GCA345497241HNRNPUc.64A>C
c.386A>C (p.Glu129Ala)
n.571A>C
c.170A>C (p.Glu57Ala)
n.617A>C
c.86A>C (p.Glu29Ala)
n.610A>C
n.570A>C
1g.244863922T=CA1231007508HNRNPUc.64A=
c.386A= (p.Glu129=)
n.571A=
c.170A= (p.Glu57=)
n.617A=
c.86A= (p.Glu29=)
n.610A=
n.570A=
1g.244863923C>ACA345497243HNRNPUc.63G>T
c.385G>T (p.Glu129Ter)
n.570G>T
c.169G>T (p.Glu57Ter)
n.616G>T
c.85G>T (p.Glu29Ter)
n.609G>T
n.569G>T
1g.244863923C>GCA345497244HNRNPUc.63G>C
c.385G>C (p.Glu129Gln)
n.570G>C
c.169G>C (p.Glu57Gln)
n.616G>C
c.85G>C (p.Glu29Gln)
n.609G>C
n.569G>C
1g.244863923C>TCA345497242HNRNPUc.63G>A
c.385G>A (p.Glu129Lys)
n.570G>A
c.169G>A (p.Glu57Lys)
n.616G>A
c.85G>A (p.Glu29Lys)
n.609G>A
n.569G>A
1g.244863924C>ACA424403291HNRNPUc.62G>T
c.384G>T (p.Ser128=)
n.569G>T
c.168G>T (p.Ser56=)
n.615G>T
c.84G>T (p.Ser28=)
n.608G>T
n.568G>T
1g.244863924C>GCA424403293HNRNPUc.62G>C
c.384G>C (p.Ser128=)
n.569G>C
c.168G>C (p.Ser56=)
n.615G>C
c.84G>C (p.Ser28=)
n.608G>C
n.568G>C
1g.244863924C>TCA424403294HNRNPUc.62G>A
c.384G>A (p.Ser128=)
n.569G>A
c.168G>A (p.Ser56=)
n.615G>A
c.84G>A (p.Ser28=)
n.608G>A
n.568G>A
 ClinVar dbSNP
1g.244863925G>ACA345497245HNRNPUc.61C>T
c.383C>T (p.Ser128Leu)
n.568C>T
c.167C>T (p.Ser56Leu)
n.614C>T
c.83C>T (p.Ser28Leu)
n.607C>T
n.567C>T
1g.244863925G>CCA345497246HNRNPUc.61C>G
c.383C>G (p.Ser128Trp)
n.568C>G
c.167C>G (p.Ser56Trp)
n.614C>G
c.83C>G (p.Ser28Trp)
n.607C>G
n.567C>G
1g.244863925G>TCA345497247HNRNPUc.61C>A
c.383C>A (p.Ser128Ter)
n.568C>A
c.167C>A (p.Ser56Ter)
n.614C>A
c.83C>A (p.Ser28Ter)
n.607C>A
n.567C>A
1g.244863926A>CCA345497248HNRNPUc.60T>G
c.382T>G (p.Ser128Ala)
n.567T>G
c.166T>G (p.Ser56Ala)
n.613T>G
c.82T>G (p.Ser28Ala)
n.606T>G
n.566T>G
1g.244863926A>GCA345497249HNRNPUc.60T>C
c.382T>C (p.Ser128Pro)
n.567T>C
c.166T>C (p.Ser56Pro)
n.613T>C
c.82T>C (p.Ser28Pro)
n.606T>C
n.566T>C
1g.244863926A>TCA345497250HNRNPUc.60T>A
c.382T>A (p.Ser128Thr)
n.567T>A
c.166T>A (p.Ser56Thr)
n.613T>A
c.82T>A (p.Ser28Thr)
n.606T>A
n.566T>A
1g.244863927G>ACA40505188HNRNPUc.59C>T
c.381C>T (p.Ala127=)
n.566C>T
c.165C>T (p.Ala55=)
n.612C>T
c.81C>T (p.Ala27=)
n.605C>T
n.565C>T
 dbSNP
1g.244863927G>CCA424403308HNRNPUc.59C>G
c.381C>G (p.Ala127=)
n.566C>G
c.165C>G (p.Ala55=)
n.612C>G
c.81C>G (p.Ala27=)
n.605C>G
n.565C>G
1g.244863927G=CA1231007509HNRNPUc.59C=
c.381C= (p.Ala127=)
n.566C=
c.165C= (p.Ala55=)
n.612C=
c.81C= (p.Ala27=)
n.605C=
n.565C=
1g.244863927G>TCA424403315HNRNPUc.59C>A
c.381C>A (p.Ala127=)
n.566C>A
c.165C>A (p.Ala55=)
n.612C>A
c.81C>A (p.Ala27=)
n.605C>A
n.565C>A
1g.244863928G>ACA1486809HNRNPUc.58C>T
c.380C>T (p.Ala127Val)
n.565C>T
c.164C>T (p.Ala55Val)
n.611C>T
c.80C>T (p.Ala27Val)
n.604C>T
n.564C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863928G>CCA345497251HNRNPUc.58C>G
c.380C>G (p.Ala127Gly)
n.565C>G
c.164C>G (p.Ala55Gly)
n.611C>G
c.80C>G (p.Ala27Gly)
n.604C>G
n.564C>G
1g.244863928G=CA1231007510HNRNPUc.58C=
c.380C= (p.Ala127=)
n.565C=
c.164C= (p.Ala55=)
n.611C=
c.80C= (p.Ala27=)
n.604C=
n.564C=
1g.244863928G>TCA345497252HNRNPUc.58C>A
c.380C>A (p.Ala127Asp)
n.565C>A
c.164C>A (p.Ala55Asp)
n.611C>A
c.80C>A (p.Ala27Asp)
n.604C>A
n.564C>A
1g.244863929C>ACA345497253HNRNPUc.57G>T
c.379G>T (p.Ala127Ser)
n.564G>T
c.163G>T (p.Ala55Ser)
n.610G>T
c.79G>T (p.Ala27Ser)
n.603G>T
n.563G>T
1g.244863929C>GCA345497254HNRNPUc.57G>C
c.379G>C (p.Ala127Pro)
n.564G>C
c.163G>C (p.Ala55Pro)
n.610G>C
c.79G>C (p.Ala27Pro)
n.603G>C
n.563G>C
1g.244863929C>TCA345497255HNRNPUc.57G>A
c.379G>A (p.Ala127Thr)
n.564G>A
c.163G>A (p.Ala55Thr)
n.610G>A
c.79G>A (p.Ala27Thr)
n.603G>A
n.563G>A
1g.244863934_244863963dupCA2651343513HNRNPUc.28_57dup
c.350_379dup (p.Ala126_Ala127insAspSerGlyProMetGluGluGluGluAla)
n.535_564dup
c.134_163dup (p.Ala54_Ala55insAspSerGlyProMetGluGluGluGluAla)
n.581_610dup
c.50_79dup (p.Ala26_Ala27insAspSerGlyProMetGluGluGluGluAla)
n.574_603dup
n.534_563dup
 gnomAD v4
1g.244863930G>ACA424403326HNRNPUc.56C>T
c.378C>T (p.Ala126=)
n.563C>T
c.162C>T (p.Ala54=)
n.609C>T
c.78C>T (p.Ala26=)
n.602C>T
n.562C>T
 ClinVar
1g.244863930G>CCA424403328HNRNPUc.56C>G
c.378C>G (p.Ala126=)
n.563C>G
c.162C>G (p.Ala54=)
n.609C>G
c.78C>G (p.Ala26=)
n.602C>G
n.562C>G
1g.244863930G>TCA424403330HNRNPUc.56C>A
c.378C>A (p.Ala126=)
n.563C>A
c.162C>A (p.Ala54=)
n.609C>A
c.78C>A (p.Ala26=)
n.602C>A
n.562C>A
1g.244863931G>ACA345497258HNRNPUc.55C>T
c.377C>T (p.Ala126Val)
n.562C>T
c.161C>T (p.Ala54Val)
n.608C>T
c.77C>T (p.Ala26Val)
n.601C>T
n.561C>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863931G>CCA345497256HNRNPUc.55C>G
c.377C>G (p.Ala126Gly)
n.562C>G
c.161C>G (p.Ala54Gly)
n.608C>G
c.77C>G (p.Ala26Gly)
n.601C>G
n.561C>G
1g.244863931G=CA1231007512HNRNPUc.55C=
c.377C= (p.Ala126=)
n.562C=
c.161C= (p.Ala54=)
n.608C=
c.77C= (p.Ala26=)
n.601C=
n.561C=
1g.244863931G>TCA345497257HNRNPUc.55C>A
c.377C>A (p.Ala126Asp)
n.562C>A
c.161C>A (p.Ala54Asp)
n.608C>A
c.77C>A (p.Ala26Asp)
n.601C>A
n.561C>A
1g.244863931_244863933dupCA2574464055HNRNPUc.53_55dup
c.375_377dup (p.Ala126_Ala127insAla)
n.560_562dup
c.159_161dup (p.Ala54_Ala55insAla)
n.606_608dup
c.75_77dup (p.Ala26_Ala27insAla)
n.599_601dup
n.559_561dup
1g.244863931_244863934delinsGCCTCA1231007511HNRNPUc.52_55delinsAGGC
c.374_377delinsAGGC (p.Glu125=)
n.559_562delinsAGGC
c.158_161delinsAGGC (p.Glu53=)
n.605_608delinsAGGC
c.74_77delinsAGGC (p.Glu25=)
n.598_601delinsAGGC
n.558_561delinsAGGC
1g.244863932C>ACA345497259HNRNPUc.54G>T
c.376G>T (p.Ala126Ser)
n.561G>T
c.160G>T (p.Ala54Ser)
n.607G>T
c.76G>T (p.Ala26Ser)
n.600G>T
n.560G>T
1g.244863932C>GCA345497260HNRNPUc.54G>C
c.376G>C (p.Ala126Pro)
n.561G>C
c.160G>C (p.Ala54Pro)
n.607G>C
c.76G>C (p.Ala26Pro)
n.600G>C
n.560G>C
 ClinVar
1g.244863932C>TCA345497261HNRNPUc.54G>A
c.376G>A (p.Ala126Thr)
n.561G>A
c.160G>A (p.Ala54Thr)
n.607G>A
c.76G>A (p.Ala26Thr)
n.600G>A
n.560G>A
1g.244863932_244863945delinsCCTCCTCCTCCTCCCA1148437400HNRNPUc.41_54delinsGGAGGAGGAGGAGG
c.363_376delinsGGAGGAGGAGGAGG (p.Met121=)
n.548_561delinsGGAGGAGGAGGAGG
c.147_160delinsGGAGGAGGAGGAGG (p.Met49=)
n.594_607delinsGGAGGAGGAGGAGG
c.63_76delinsGGAGGAGGAGGAGG (p.Met21=)
n.587_600delinsGGAGGAGGAGGAGG
n.547_560delinsGGAGGAGGAGGAGG
1g.244863943_244863945dupCA1486811HNRNPUc.52_54dup
c.374_376dup (p.Glu125_Ala126insGlu)
n.559_561dup
c.158_160dup (p.Glu53_Ala54insGlu)
n.605_607dup
c.74_76dup (p.Glu25_Ala26insGlu)
n.598_600dup
n.558_560dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863940_244863945dupCA1014270480HNRNPUc.49_54dup
c.371_376dup (p.Glu125_Ala126insGluGlu)
n.556_561dup
c.155_160dup (p.Glu53_Ala54insGluGlu)
n.602_607dup
c.71_76dup (p.Glu25_Ala26insGluGlu)
n.595_600dup
n.555_560dup
 dbSNP gnomAD v3 gnomAD v4
1g.244863943_244863945delCA1486810HNRNPUc.52_54del
c.374_376del (p.Glu125del)
n.559_561del
c.158_160del (p.Glu53del)
n.605_607del
c.74_76del (p.Glu25del)
n.598_600del
n.558_560del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863933C>ACA345497262HNRNPUc.53G>T
c.375G>T (p.Glu125Asp)
n.560G>T
c.159G>T (p.Glu53Asp)
n.606G>T
c.75G>T (p.Glu25Asp)
n.599G>T
n.559G>T
1g.244863933C=CA1231007514HNRNPUc.53G=
c.375G= (p.Glu125=)
n.560G=
c.159G= (p.Glu53=)
n.606G=
c.75G= (p.Glu25=)
n.599G=
n.559G=
1g.244863933C>GCA1486813HNRNPUc.53G>C
c.375G>C (p.Glu125Asp)
n.560G>C
c.159G>C (p.Glu53Asp)
n.606G>C
c.75G>C (p.Glu25Asp)
n.599G>C
n.559G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863933C>TCA1486812HNRNPUc.53G>A
c.375G>A (p.Glu125=)
n.560G>A
c.159G>A (p.Glu53=)
n.606G>A
c.75G>A (p.Glu25=)
n.599G>A
n.559G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863933_244863934delinsCTCA1231007513HNRNPUc.52_53delinsAG
c.374_375delinsAG (p.Glu125=)
n.559_560delinsAG
c.158_159delinsAG (p.Glu53=)
n.605_606delinsAG
c.74_75delinsAG (p.Glu25=)
n.598_599delinsAG
n.558_559delinsAG
1g.244863933_244863934delinsGGCA916082166HNRNPUc.52_53delinsCC
c.374_375delinsCC (p.Glu125Ala)
n.559_560delinsCC
c.158_159delinsCC (p.Glu53Ala)
n.605_606delinsCC
c.74_75delinsCC (p.Glu25Ala)
n.598_599delinsCC
n.558_559delinsCC
 ClinVar dbSNP
1g.244863934T>ACA345497263HNRNPUc.52A>T
c.374A>T (p.Glu125Val)
n.559A>T
c.158A>T (p.Glu53Val)
n.605A>T
c.74A>T (p.Glu25Val)
n.598A>T
n.558A>T
1g.244863934T>CCA345497264HNRNPUc.52A>G
c.374A>G (p.Glu125Gly)
n.559A>G
c.158A>G (p.Glu53Gly)
n.605A>G
c.74A>G (p.Glu25Gly)
n.598A>G
n.558A>G
1g.244863934T>GCA1486814HNRNPUc.52A>C
c.374A>C (p.Glu125Ala)
n.559A>C
c.158A>C (p.Glu53Ala)
n.605A>C
c.74A>C (p.Glu25Ala)
n.598A>C
n.558A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863934T=CA1143373646HNRNPUc.52A=
c.374A= (p.Glu125=)
n.559A=
c.158A= (p.Glu53=)
n.605A=
c.74A= (p.Glu25=)
n.598A=
n.558A=
1g.244863935C>ACA345497265HNRNPUc.51G>T
c.373G>T (p.Glu125Ter)
n.558G>T
c.157G>T (p.Glu53Ter)
n.604G>T
c.73G>T (p.Glu25Ter)
n.597G>T
n.557G>T
1g.244863935C>GCA345497267HNRNPUc.51G>C
c.373G>C (p.Glu125Gln)
n.558G>C
c.157G>C (p.Glu53Gln)
n.604G>C
c.73G>C (p.Glu25Gln)
n.597G>C
n.557G>C
1g.244863935C>TCA345497266HNRNPUc.51G>A
c.373G>A (p.Glu125Lys)
n.558G>A
c.157G>A (p.Glu53Lys)
n.604G>A
c.73G>A (p.Glu25Lys)
n.597G>A
n.557G>A
1g.244863936C>ACA345497268HNRNPUc.50G>T
c.372G>T (p.Glu124Asp)
n.557G>T
c.156G>T (p.Glu52Asp)
n.603G>T
c.72G>T (p.Glu24Asp)
n.596G>T
n.556G>T
1g.244863936C>GCA345497269HNRNPUc.50G>C
c.372G>C (p.Glu124Asp)
n.557G>C
c.156G>C (p.Glu52Asp)
n.603G>C
c.72G>C (p.Glu24Asp)
n.596G>C
n.556G>C
1g.244863936C>TCA424403350HNRNPUc.50G>A
c.372G>A (p.Glu124=)
n.557G>A
c.156G>A (p.Glu52=)
n.603G>A
c.72G>A (p.Glu24=)
n.596G>A
n.556G>A
1g.244863937T>ACA345497270HNRNPUc.49A>T
c.371A>T (p.Glu124Val)
n.556A>T
c.155A>T (p.Glu52Val)
n.602A>T
c.71A>T (p.Glu24Val)
n.595A>T
n.555A>T
1g.244863937T>CCA345497272HNRNPUc.49A>G
c.371A>G (p.Glu124Gly)
n.556A>G
c.155A>G (p.Glu52Gly)
n.602A>G
c.71A>G (p.Glu24Gly)
n.595A>G
n.555A>G
1g.244863937T>GCA345497271HNRNPUc.49A>C
c.371A>C (p.Glu124Ala)
n.556A>C
c.155A>C (p.Glu52Ala)
n.602A>C
c.71A>C (p.Glu24Ala)
n.595A>C
n.555A>C
1g.244863938C>ACA345497273HNRNPUc.48G>T
c.370G>T (p.Glu124Ter)
n.555G>T
c.154G>T (p.Glu52Ter)
n.601G>T
c.70G>T (p.Glu24Ter)
n.594G>T
n.554G>T
1g.244863938C=CA1231007516HNRNPUc.48G=
c.370G= (p.Glu124=)
n.555G=
c.154G= (p.Glu52=)
n.601G=
c.70G= (p.Glu24=)
n.594G=
n.554G=
1g.244863938C>GCA345497274HNRNPUc.48G>C
c.370G>C (p.Glu124Gln)
n.555G>C
c.154G>C (p.Glu52Gln)
n.601G>C
c.70G>C (p.Glu24Gln)
n.594G>C
n.554G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863938C>TCA345497275HNRNPUc.48G>A
c.370G>A (p.Glu124Lys)
n.555G>A
c.154G>A (p.Glu52Lys)
n.601G>A
c.70G>A (p.Glu24Lys)
n.594G>A
n.554G>A
1g.244863938_244863980delinsCCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTTCA1231007515HNRNPUc.6_48delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
c.328_370delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn110=)
n.513_555delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
c.112_154delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn38=)
n.559_601delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
c.28_70delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn10=)
n.552_594delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
n.512_554delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG
1g.244863939C>ACA345497276HNRNPUc.47G>T
c.369G>T (p.Glu123Asp)
n.554G>T
c.153G>T (p.Glu51Asp)
n.600G>T
c.69G>T (p.Glu23Asp)
n.593G>T
n.553G>T
 gnomAD v4
1g.244863939C=CA1231007517HNRNPUc.47G=
c.369G= (p.Glu123=)
n.554G=
c.153G= (p.Glu51=)
n.600G=
c.69G= (p.Glu23=)
n.593G=
n.553G=
1g.244863939C>GCA1486816HNRNPUc.47G>C
c.369G>C (p.Glu123Asp)
n.554G>C
c.153G>C (p.Glu51Asp)
n.600G>C
c.69G>C (p.Glu23Asp)
n.593G>C
n.553G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863939C>TCA424403359HNRNPUc.47G>A
c.369G>A (p.Glu123=)
n.554G>A
c.153G>A (p.Glu51=)
n.600G>A
c.69G>A (p.Glu23=)
n.593G>A
n.553G>A
 COSMIC COSMIC
1g.244863945_244863986delCA1486815HNRNPUc.328_369del (p.Asn110_Glu123del)
n.513_554del
c.112_153del (p.Asn38_Glu51del)
n.559_600del
c.28_69del (p.Asn10_Glu23del)
n.552_593del
n.512_553del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863940T>ACA345497277HNRNPUc.46A>T
c.368A>T (p.Glu123Val)
n.553A>T
c.152A>T (p.Glu51Val)
n.599A>T
c.68A>T (p.Glu23Val)
n.592A>T
n.552A>T
1g.244863940T>CCA345497278HNRNPUc.46A>G
c.368A>G (p.Glu123Gly)
n.553A>G
c.152A>G (p.Glu51Gly)
n.599A>G
c.68A>G (p.Glu23Gly)
n.592A>G
n.552A>G
 dbSNP
1g.244863940T>GCA345497279HNRNPUc.46A>C
c.368A>C (p.Glu123Ala)
n.553A>C
c.152A>C (p.Glu51Ala)
n.599A>C
c.68A>C (p.Glu23Ala)
n.592A>C
n.552A>C
1g.244863941C>ACA345497280HNRNPUc.45G>T
c.367G>T (p.Glu123Ter)
n.552G>T
c.151G>T (p.Glu51Ter)
n.598G>T
c.67G>T (p.Glu23Ter)
n.591G>T
n.551G>T
1g.244863941C>GCA345497281HNRNPUc.45G>C
c.367G>C (p.Glu123Gln)
n.552G>C
c.151G>C (p.Glu51Gln)
n.598G>C
c.67G>C (p.Glu23Gln)
n.591G>C
n.551G>C
1g.244863941C>TCA345497282HNRNPUc.45G>A
c.367G>A (p.Glu123Lys)
n.552G>A
c.151G>A (p.Glu51Lys)
n.598G>A
c.67G>A (p.Glu23Lys)
n.591G>A
n.551G>A
1g.244863942C>ACA345497283HNRNPUc.44G>T
c.366G>T (p.Glu122Asp)
n.551G>T
c.150G>T (p.Glu50Asp)
n.597G>T
c.66G>T (p.Glu22Asp)
n.590G>T
n.550G>T
1g.244863942C>GCA345497284HNRNPUc.44G>C
c.366G>C (p.Glu122Asp)
n.551G>C
c.150G>C (p.Glu50Asp)
n.597G>C
c.66G>C (p.Glu22Asp)
n.590G>C
n.550G>C
1g.244863942C>TCA424403369HNRNPUc.44G>A
c.366G>A (p.Glu122=)
n.551G>A
c.150G>A (p.Glu50=)
n.597G>A
c.66G>A (p.Glu22=)
n.590G>A
n.550G>A
1g.244863943T>ACA345497285HNRNPUc.43A>T
c.365A>T (p.Glu122Val)
n.550A>T
c.149A>T (p.Glu50Val)
n.596A>T
c.65A>T (p.Glu22Val)
n.589A>T
n.549A>T
1g.244863943T>CCA345497286HNRNPUc.43A>G
c.365A>G (p.Glu122Gly)
n.550A>G
c.149A>G (p.Glu50Gly)
n.596A>G
c.65A>G (p.Glu22Gly)
n.589A>G
n.549A>G
 dbSNP gnomAD v3 gnomAD v4
1g.244863943T>GCA345497287HNRNPUc.43A>C
c.365A>C (p.Glu122Ala)
n.550A>C
c.149A>C (p.Glu50Ala)
n.596A>C
c.65A>C (p.Glu22Ala)
n.589A>C
n.549A>C
1g.244863943T=CA1231007518HNRNPUc.43A=
c.365A= (p.Glu122=)
n.550A=
c.149A= (p.Glu50=)
n.596A=
c.65A= (p.Glu22=)
n.589A=
n.549A=
1g.244863944C>ACA345497288HNRNPUc.42G>T
c.364G>T (p.Glu122Ter)
n.549G>T
c.148G>T (p.Glu50Ter)
n.595G>T
c.64G>T (p.Glu22Ter)
n.588G>T
n.548G>T
1g.244863944C=CA1231007519HNRNPUc.42G=
c.364G= (p.Glu122=)
n.549G=
c.148G= (p.Glu50=)
n.595G=
c.64G= (p.Glu22=)
n.588G=
n.548G=
1g.244863944C>GCA345497289HNRNPUc.42G>C
c.364G>C (p.Glu122Gln)
n.549G>C
c.148G>C (p.Glu50Gln)
n.595G>C
c.64G>C (p.Glu22Gln)
n.588G>C
n.548G>C
 dbSNP
1g.244863944C>TCA345497290HNRNPUc.42G>A
c.364G>A (p.Glu122Lys)
n.549G>A
c.148G>A (p.Glu50Lys)
n.595G>A
c.64G>A (p.Glu22Lys)
n.588G>A
n.548G>A
1g.244863945C>ACA345497291HNRNPUc.41G>T
c.363G>T (p.Met121Ile)
n.548G>T
c.147G>T (p.Met49Ile)
n.594G>T
c.63G>T (p.Met21Ile)
n.587G>T
n.547G>T
1g.244863945C>GCA345497292HNRNPUc.41G>C
c.363G>C (p.Met121Ile)
n.548G>C
c.147G>C (p.Met49Ile)
n.594G>C
c.63G>C (p.Met21Ile)
n.587G>C
n.547G>C
1g.244863945C>TCA345497293HNRNPUc.41G>A
c.363G>A (p.Met121Ile)
n.548G>A
c.147G>A (p.Met49Ile)
n.594G>A
c.63G>A (p.Met21Ile)
n.587G>A
n.547G>A
1g.244863946A>CCA345497294HNRNPUc.40T>G
c.362T>G (p.Met121Arg)
n.547T>G
c.146T>G (p.Met49Arg)
n.593T>G
c.62T>G (p.Met21Arg)
n.586T>G
n.546T>G
 gnomAD v4
1g.244863946A>GCA345497295HNRNPUc.40T>C
c.362T>C (p.Met121Thr)
n.547T>C
c.146T>C (p.Met49Thr)
n.593T>C
c.62T>C (p.Met21Thr)
n.586T>C
n.546T>C
 gnomAD v4
1g.244863946A>TCA345497296HNRNPUc.40T>A
c.362T>A (p.Met121Lys)
n.547T>A
c.146T>A (p.Met49Lys)
n.593T>A
c.62T>A (p.Met21Lys)
n.586T>A
n.546T>A
1g.244863947T>ACA345497297HNRNPUc.39A>T
c.361A>T (p.Met121Leu)
n.546A>T
c.145A>T (p.Met49Leu)
n.592A>T
c.61A>T (p.Met21Leu)
n.585A>T
n.545A>T
 dbSNP gnomAD v4
1g.244863947T>CCA345497299HNRNPUc.39A>G
c.361A>G (p.Met121Val)
n.546A>G
c.145A>G (p.Met49Val)
n.592A>G
c.61A>G (p.Met21Val)
n.585A>G
n.545A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.244863947T>GCA345497298HNRNPUc.39A>C
c.361A>C (p.Met121Leu)
n.546A>C
c.145A>C (p.Met49Leu)
n.592A>C
c.61A>C (p.Met21Leu)
n.585A>C
n.545A>C
1g.244863947T=CA1231007520HNRNPUc.39A=
c.361A= (p.Met121=)
n.546A=
c.145A= (p.Met49=)
n.592A=
c.61A= (p.Met21=)
n.585A=
n.545A=
1g.244863948C>ACA424403389HNRNPUc.38G>T
c.360G>T (p.Pro120=)
n.545G>T
c.144G>T (p.Pro48=)
n.591G>T
c.60G>T (p.Pro20=)
n.584G>T
n.544G>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863948C=CA1231007521HNRNPUc.38G=
c.360G= (p.Pro120=)
n.545G=
c.144G= (p.Pro48=)
n.591G=
c.60G= (p.Pro20=)
n.584G=
n.544G=
1g.244863948C>GCA424403391HNRNPUc.38G>C
c.360G>C (p.Pro120=)
n.545G>C
c.144G>C (p.Pro48=)
n.591G>C
c.60G>C (p.Pro20=)
n.584G>C
n.544G>C
1g.244863948C>TCA424403393HNRNPUc.38G>A
c.360G>A (p.Pro120=)
n.545G>A
c.144G>A (p.Pro48=)
n.591G>A
c.60G>A (p.Pro20=)
n.584G>A
n.544G>A
 ClinVar
1g.244863949G>ACA345497300HNRNPUc.37C>T
c.359C>T (p.Pro120Leu)
n.544C>T
c.143C>T (p.Pro48Leu)
n.590C>T
c.59C>T (p.Pro20Leu)
n.583C>T
n.543C>T
 gnomAD v4
1g.244863949G>CCA345497301HNRNPUc.37C>G
c.359C>G (p.Pro120Arg)
n.544C>G
c.143C>G (p.Pro48Arg)
n.590C>G
c.59C>G (p.Pro20Arg)
n.583C>G
n.543C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.244863949G=CA1231007522HNRNPUc.37C=
c.359C= (p.Pro120=)
n.544C=
c.143C= (p.Pro48=)
n.590C=
c.59C= (p.Pro20=)
n.583C=
n.543C=
1g.244863949G>TCA345497302HNRNPUc.37C>A
c.359C>A (p.Pro120Gln)
n.544C>A
c.143C>A (p.Pro48Gln)
n.590C>A
c.59C>A (p.Pro20Gln)
n.583C>A
n.543C>A
1g.244863950G>ACA345497303HNRNPUc.36C>T
c.358C>T (p.Pro120Ser)
n.543C>T
c.142C>T (p.Pro48Ser)
n.589C>T
c.58C>T (p.Pro20Ser)
n.582C>T
n.542C>T
1g.244863950G>CCA345497304HNRNPUc.36C>G
c.358C>G (p.Pro120Ala)
n.543C>G
c.142C>G (p.Pro48Ala)
n.589C>G
c.58C>G (p.Pro20Ala)
n.582C>G
n.542C>G
1g.244863950G>TCA345497305HNRNPUc.36C>A
c.358C>A (p.Pro120Thr)
n.543C>A
c.142C>A (p.Pro48Thr)
n.589C>A
c.58C>A (p.Pro20Thr)
n.582C>A
n.542C>A
 gnomAD v4
1g.244863951G>ACA424403405HNRNPUc.35C>T
c.357C>T (p.Gly119=)
n.542C>T
c.141C>T (p.Gly47=)
n.588C>T
c.57C>T (p.Gly19=)
n.581C>T
n.541C>T
1g.244863951G>CCA424403404HNRNPUc.35C>G
c.357C>G (p.Gly119=)
n.542C>G
c.141C>G (p.Gly47=)
n.588C>G
c.57C>G (p.Gly19=)
n.581C>G
n.541C>G
1g.244863951G>TCA424403403HNRNPUc.35C>A
c.357C>A (p.Gly119=)
n.542C>A
c.141C>A (p.Gly47=)
n.588C>A
c.57C>A (p.Gly19=)
n.581C>A
n.541C>A
1g.244863952C>ACA345497306HNRNPUc.34G>T
c.356G>T (p.Gly119Val)
n.541G>T
c.140G>T (p.Gly47Val)
n.587G>T
c.56G>T (p.Gly19Val)
n.580G>T
n.540G>T
1g.244863952C>GCA345497307HNRNPUc.34G>C
c.356G>C (p.Gly119Ala)
n.541G>C
c.140G>C (p.Gly47Ala)
n.587G>C
c.56G>C (p.Gly19Ala)
n.580G>C
n.540G>C
1g.244863952C>TCA345497308HNRNPUc.34G>A
c.356G>A (p.Gly119Asp)
n.541G>A
c.140G>A (p.Gly47Asp)
n.587G>A
c.56G>A (p.Gly19Asp)
n.580G>A
n.540G>A
1g.244863953C>ACA345497309HNRNPUc.33G>T
c.355G>T (p.Gly119Cys)
n.540G>T
c.139G>T (p.Gly47Cys)
n.586G>T
c.55G>T (p.Gly19Cys)
n.579G>T
n.539G>T
 COSMIC COSMIC
1g.244863953C>GCA345497310HNRNPUc.33G>C
c.355G>C (p.Gly119Arg)
n.540G>C
c.139G>C (p.Gly47Arg)
n.586G>C
c.55G>C (p.Gly19Arg)
n.579G>C
n.539G>C
 gnomAD v4 COSMIC COSMIC
1g.244863953C>TCA345497311HNRNPUc.33G>A
c.355G>A (p.Gly119Ser)
n.540G>A
c.139G>A (p.Gly47Ser)
n.586G>A
c.55G>A (p.Gly19Ser)
n.579G>A
n.539G>A
 ClinVar
1g.244863954C>ACA1486817HNRNPUc.32G>T
c.354G>T (p.Ser118=)
n.539G>T
c.138G>T (p.Ser46=)
n.585G>T
c.54G>T (p.Ser18=)
n.578G>T
n.538G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863954C=CA1231007523HNRNPUc.32G=
c.354G= (p.Ser118=)
n.539G=
c.138G= (p.Ser46=)
n.585G=
c.54G= (p.Ser18=)
n.578G=
n.538G=
1g.244863954C>GCA424403419HNRNPUc.32G>C
c.354G>C (p.Ser118=)
n.539G>C
c.138G>C (p.Ser46=)
n.585G>C
c.54G>C (p.Ser18=)
n.578G>C
n.538G>C
 gnomAD v4
1g.244863954C>TCA424403422HNRNPUc.32G>A
c.354G>A (p.Ser118=)
n.539G>A
c.138G>A (p.Ser46=)
n.585G>A
c.54G>A (p.Ser18=)
n.578G>A
n.538G>A
1g.244863955G>ACA345497312HNRNPUc.31C>T
c.353C>T (p.Ser118Leu)
n.538C>T
c.137C>T (p.Ser46Leu)
n.584C>T
c.53C>T (p.Ser18Leu)
n.577C>T
n.537C>T
1g.244863955G>CCA345497313HNRNPUc.31C>G
c.353C>G (p.Ser118Trp)
n.538C>G
c.137C>G (p.Ser46Trp)
n.584C>G
c.53C>G (p.Ser18Trp)
n.577C>G
n.537C>G
 COSMIC COSMIC
1g.244863955G=CA1231007524HNRNPUc.31C=
c.353C= (p.Ser118=)
n.538C=
c.137C= (p.Ser46=)
n.584C=
c.53C= (p.Ser18=)
n.577C=
n.537C=
1g.244863955G>TCA16603678HNRNPUc.31C>A
c.353C>A (p.Ser118Ter)
n.538C>A
c.137C>A (p.Ser46Ter)
n.584C>A
c.53C>A (p.Ser18Ter)
n.577C>A
n.537C>A
 ClinVar dbSNP
1g.244863956_244863973delCA2573132983HNRNPUc.14_31del
c.336_353del (p.Ala113_Ser118del)
n.521_538del
c.120_137del (p.Ala41_Ser46del)
n.567_584del
c.36_53del (p.Ala13_Ser18del)
n.560_577del
n.520_537del
 ClinVar dbSNP

Number of alleles fetched