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.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

Number of alleles fetched