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.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.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.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.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
1g.244863956A=CA1146316102HNRNPUc.30T=
c.352T= (p.Ser118=)
n.537T=
c.136T= (p.Ser46=)
n.583T=
c.52T= (p.Ser18=)
n.576T=
n.536T=
1g.244863956A>CCA345497314HNRNPUc.30T>G
c.352T>G (p.Ser118Ala)
n.537T>G
c.136T>G (p.Ser46Ala)
n.583T>G
c.52T>G (p.Ser18Ala)
n.576T>G
n.536T>G
1g.244863956A>GCA1486818HNRNPUc.30T>C
c.352T>C (p.Ser118Pro)
n.537T>C
c.136T>C (p.Ser46Pro)
n.583T>C
c.52T>C (p.Ser18Pro)
n.576T>C
n.536T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863956A>TCA345497315HNRNPUc.30T>A
c.352T>A (p.Ser118Thr)
n.537T>A
c.136T>A (p.Ser46Thr)
n.583T>A
c.52T>A (p.Ser18Thr)
n.576T>A
n.536T>A
1g.244863957G>ACA424403432HNRNPUc.29C>T
c.351C>T (p.Asp117=)
n.536C>T
c.135C>T (p.Asp45=)
n.582C>T
c.51C>T (p.Asp17=)
n.575C>T
n.535C>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863957G>CCA345497316HNRNPUc.29C>G
c.351C>G (p.Asp117Glu)
n.536C>G
c.135C>G (p.Asp45Glu)
n.582C>G
c.51C>G (p.Asp17Glu)
n.575C>G
n.535C>G
 gnomAD v4
1g.244863957G=CA1231007525HNRNPUc.29C=
c.351C= (p.Asp117=)
n.536C=
c.135C= (p.Asp45=)
n.582C=
c.51C= (p.Asp17=)
n.575C=
n.535C=
1g.244863957G>TCA345497317HNRNPUc.29C>A
c.351C>A (p.Asp117Glu)
n.536C>A
c.135C>A (p.Asp45Glu)
n.582C>A
c.51C>A (p.Asp17Glu)
n.575C>A
n.535C>A
1g.244863958_244863973delCA2580063540HNRNPUc.14_29del
c.336_351del (p.Ala113ArgfsTer?)
n.521_536del
c.120_135del (p.Ala41ArgfsTer?)
n.567_582del
c.36_51del (p.Ala13ArgfsTer?)
n.560_575del
n.520_535del
 ClinVar
1g.244863958T>ACA345497318HNRNPUc.28A>T
c.350A>T (p.Asp117Val)
n.535A>T
c.134A>T (p.Asp45Val)
n.581A>T
c.50A>T (p.Asp17Val)
n.574A>T
n.534A>T
1g.244863958T>CCA1486819HNRNPUc.28A>G
c.350A>G (p.Asp117Gly)
n.535A>G
c.134A>G (p.Asp45Gly)
n.581A>G
c.50A>G (p.Asp17Gly)
n.574A>G
n.534A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863958T>GCA345497319HNRNPUc.28A>C
c.350A>C (p.Asp117Ala)
n.535A>C
c.134A>C (p.Asp45Ala)
n.581A>C
c.50A>C (p.Asp17Ala)
n.574A>C
n.534A>C
 dbSNP gnomAD v2
1g.244863958T=CA1231007526HNRNPUc.28A=
c.350A= (p.Asp117=)
n.535A=
c.134A= (p.Asp45=)
n.581A=
c.50A= (p.Asp17=)
n.574A=
n.534A=
1g.244863959C>ACA345497320HNRNPUc.27G>T
c.349G>T (p.Asp117Tyr)
n.534G>T
c.133G>T (p.Asp45Tyr)
n.580G>T
c.49G>T (p.Asp17Tyr)
n.573G>T
n.533G>T
 gnomAD v4
1g.244863959C=CA1231007527HNRNPUc.27G=
c.349G= (p.Asp117=)
n.534G=
c.133G= (p.Asp45=)
n.580G=
c.49G= (p.Asp17=)
n.573G=
n.533G=
1g.244863959C>GCA1486820HNRNPUc.27G>C
c.349G>C (p.Asp117His)
n.534G>C
c.133G>C (p.Asp45His)
n.580G>C
c.49G>C (p.Asp17His)
n.573G>C
n.533G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244863959C>TCA345497321HNRNPUc.27G>A
c.349G>A (p.Asp117Asn)
n.534G>A
c.133G>A (p.Asp45Asn)
n.580G>A
c.49G>A (p.Asp17Asn)
n.573G>A
n.533G>A
 gnomAD v4
1g.244863960G>ACA424403438HNRNPUc.26C>T
c.348C>T (p.Ala116=)
n.533C>T
c.132C>T (p.Ala44=)
n.579C>T
c.48C>T (p.Ala16=)
n.572C>T
n.532C>T
 gnomAD v4
1g.244863960G>CCA424403439HNRNPUc.26C>G
c.348C>G (p.Ala116=)
n.533C>G
c.132C>G (p.Ala44=)
n.579C>G
c.48C>G (p.Ala16=)
n.572C>G
n.532C>G
1g.244863960G>TCA424403440HNRNPUc.26C>A
c.348C>A (p.Ala116=)
n.533C>A
c.132C>A (p.Ala44=)
n.579C>A
c.48C>A (p.Ala16=)
n.572C>A
n.532C>A
1g.244863961G>ACA345497324HNRNPUc.25C>T
c.347C>T (p.Ala116Val)
n.532C>T
c.131C>T (p.Ala44Val)
n.578C>T
c.47C>T (p.Ala16Val)
n.571C>T
n.531C>T
 ClinVar dbSNP
1g.244863961G>CCA345497323HNRNPUc.25C>G
c.347C>G (p.Ala116Gly)
n.532C>G
c.131C>G (p.Ala44Gly)
n.578C>G
c.47C>G (p.Ala16Gly)
n.571C>G
n.531C>G
 gnomAD v4
1g.244863961G=CA1231007528HNRNPUc.25C=
c.347C= (p.Ala116=)
n.532C=
c.131C= (p.Ala44=)
n.578C=
c.47C= (p.Ala16=)
n.571C=
n.531C=
1g.244863961G>TCA345497322HNRNPUc.25C>A
c.347C>A (p.Ala116Asp)
n.532C>A
c.131C>A (p.Ala44Asp)
n.578C>A
c.47C>A (p.Ala16Asp)
n.571C>A
n.531C>A
1g.244863962C>ACA345497327HNRNPUc.24G>T
c.346G>T (p.Ala116Ser)
n.531G>T
c.130G>T (p.Ala44Ser)
n.577G>T
c.46G>T (p.Ala16Ser)
n.570G>T
n.530G>T
1g.244863962C>GCA345497325HNRNPUc.24G>C
c.346G>C (p.Ala116Pro)
n.531G>C
c.130G>C (p.Ala44Pro)
n.577G>C
c.46G>C (p.Ala16Pro)
n.570G>C
n.530G>C
 dbSNP COSMIC COSMIC
1g.244863962C>TCA345497326HNRNPUc.24G>A
c.346G>A (p.Ala116Thr)
n.531G>A
c.130G>A (p.Ala44Thr)
n.577G>A
c.46G>A (p.Ala16Thr)
n.570G>A
n.530G>A
1g.244863963C>ACA424403444HNRNPUc.23G>T
c.345G>T (p.Ala115=)
n.530G>T
c.129G>T (p.Ala43=)
n.576G>T
c.45G>T (p.Ala15=)
n.569G>T
n.529G>T
1g.244863963C>GCA424403445HNRNPUc.23G>C
c.345G>C (p.Ala115=)
n.530G>C
c.129G>C (p.Ala43=)
n.576G>C
c.45G>C (p.Ala15=)
n.569G>C
n.529G>C
1g.244863963C>TCA424403448HNRNPUc.23G>A
c.345G>A (p.Ala115=)
n.530G>A
c.129G>A (p.Ala43=)
n.576G>A
c.45G>A (p.Ala15=)
n.569G>A
n.529G>A
1g.244863964G>ACA345497328HNRNPUc.22C>T
c.344C>T (p.Ala115Val)
n.529C>T
c.128C>T (p.Ala43Val)
n.575C>T
c.44C>T (p.Ala15Val)
n.568C>T
n.528C>T
 dbSNP
1g.244863964G>CCA345497329HNRNPUc.22C>G
c.344C>G (p.Ala115Gly)
n.529C>G
c.128C>G (p.Ala43Gly)
n.575C>G
c.44C>G (p.Ala15Gly)
n.568C>G
n.528C>G
1g.244863964G=CA1231007529HNRNPUc.22C=
c.344C= (p.Ala115=)
n.529C=
c.128C= (p.Ala43=)
n.575C=
c.44C= (p.Ala15=)
n.568C=
n.528C=
1g.244863964G>TCA345497330HNRNPUc.22C>A
c.344C>A (p.Ala115Glu)
n.529C>A
c.128C>A (p.Ala43Glu)
n.575C>A
c.44C>A (p.Ala15Glu)
n.568C>A
n.528C>A
1g.244863965C>ACA345497333HNRNPUc.21G>T
c.343G>T (p.Ala115Ser)
n.528G>T
c.127G>T (p.Ala43Ser)
n.574G>T
c.43G>T (p.Ala15Ser)
n.567G>T
n.527G>T
1g.244863965C>GCA345497332HNRNPUc.21G>C
c.343G>C (p.Ala115Pro)
n.528G>C
c.127G>C (p.Ala43Pro)
n.574G>C
c.43G>C (p.Ala15Pro)
n.567G>C
n.527G>C
1g.244863965C>TCA345497331HNRNPUc.21G>A
c.343G>A (p.Ala115Thr)
n.528G>A
c.127G>A (p.Ala43Thr)
n.574G>A
c.43G>A (p.Ala15Thr)
n.567G>A
n.527G>A
1g.244863966C>ACA424403453HNRNPUc.20G>T
c.342G>T (p.Gly114=)
n.527G>T
c.126G>T (p.Gly42=)
n.573G>T
c.42G>T (p.Gly14=)
n.566G>T
n.526G>T
1g.244863966C>GCA424403454HNRNPUc.20G>C
c.342G>C (p.Gly114=)
n.527G>C
c.126G>C (p.Gly42=)
n.573G>C
c.42G>C (p.Gly14=)
n.566G>C
n.526G>C
1g.244863966C>TCA424403455HNRNPUc.20G>A
c.342G>A (p.Gly114=)
n.527G>A
c.126G>A (p.Gly42=)
n.573G>A
c.42G>A (p.Gly14=)
n.566G>A
n.526G>A
1g.244863967C>ACA345497334HNRNPUc.19G>T
c.341G>T (p.Gly114Val)
n.526G>T
c.125G>T (p.Gly42Val)
n.572G>T
c.41G>T (p.Gly14Val)
n.565G>T
n.525G>T

Number of alleles fetched