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.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.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.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.244863969delCA2748454221HNRNPUc.21del
c.343del (p.Ala115ArgfsTer?)
n.528del
c.127del (p.Ala43ArgfsTer?)
n.574del
c.43del (p.Ala15ArgfsTer?)
n.567del
n.527del
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
1g.244863967C>GCA345497335HNRNPUc.19G>C
c.341G>C (p.Gly114Ala)
n.526G>C
c.125G>C (p.Gly42Ala)
n.572G>C
c.41G>C (p.Gly14Ala)
n.565G>C
n.525G>C
1g.244863967C>TCA345497336HNRNPUc.19G>A
c.341G>A (p.Gly114Glu)
n.526G>A
c.125G>A (p.Gly42Glu)
n.572G>A
c.41G>A (p.Gly14Glu)
n.565G>A
n.525G>A
1g.244863968C>ACA345497337HNRNPUc.18G>T
c.340G>T (p.Gly114Trp)
n.525G>T
c.124G>T (p.Gly42Trp)
n.571G>T
c.40G>T (p.Gly14Trp)
n.564G>T
n.524G>T
1g.244863968C>GCA345497338HNRNPUc.18G>C
c.340G>C (p.Gly114Arg)
n.525G>C
c.124G>C (p.Gly42Arg)
n.571G>C
c.40G>C (p.Gly14Arg)
n.564G>C
n.524G>C
1g.244863968C>TCA345497339HNRNPUc.18G>A
c.340G>A (p.Gly114Arg)
n.525G>A
c.124G>A (p.Gly42Arg)
n.571G>A
c.40G>A (p.Gly14Arg)
n.564G>A
n.524G>A
 gnomAD v4
1g.244863969C>ACA424403460HNRNPUc.17G>T
c.339G>T (p.Ala113=)
n.524G>T
c.123G>T (p.Ala41=)
n.570G>T
c.39G>T (p.Ala13=)
n.563G>T
n.523G>T
1g.244863969C=CA1231007530HNRNPUc.17G=
c.339G= (p.Ala113=)
n.524G=
c.123G= (p.Ala41=)
n.570G=
c.39G= (p.Ala13=)
n.563G=
n.523G=
1g.244863969C>GCA424403461HNRNPUc.17G>C
c.339G>C (p.Ala113=)
n.524G>C
c.123G>C (p.Ala41=)
n.570G>C
c.39G>C (p.Ala13=)
n.563G>C
n.523G>C
 gnomAD v4
1g.244863969C>TCA424403462HNRNPUc.17G>A
c.339G>A (p.Ala113=)
n.524G>A
c.123G>A (p.Ala41=)
n.570G>A
c.39G>A (p.Ala13=)
n.563G>A
n.523G>A
 dbSNP
1g.244863970G>ACA345497342HNRNPUc.16C>T
c.338C>T (p.Ala113Val)
n.523C>T
c.122C>T (p.Ala41Val)
n.569C>T
c.38C>T (p.Ala13Val)
n.562C>T
n.522C>T
1g.244863970G>CCA345497340HNRNPUc.16C>G
c.338C>G (p.Ala113Gly)
n.523C>G
c.122C>G (p.Ala41Gly)
n.569C>G
c.38C>G (p.Ala13Gly)
n.562C>G
n.522C>G
1g.244863970G>TCA345497341HNRNPUc.16C>A
c.338C>A (p.Ala113Glu)
n.523C>A
c.122C>A (p.Ala41Glu)
n.569C>A
c.38C>A (p.Ala13Glu)
n.562C>A
n.522C>A
1g.244863971C>ACA345497343HNRNPUc.15G>T
c.337G>T (p.Ala113Ser)
n.522G>T
c.121G>T (p.Ala41Ser)
n.568G>T
c.37G>T (p.Ala13Ser)
n.561G>T
n.521G>T
 dbSNP gnomAD v3 gnomAD v4
1g.244863971C=CA1231007531HNRNPUc.15G=
c.337G= (p.Ala113=)
n.522G=
c.121G= (p.Ala41=)
n.568G=
c.37G= (p.Ala13=)
n.561G=
n.521G=
1g.244863971C>GCA345497344HNRNPUc.15G>C
c.337G>C (p.Ala113Pro)
n.522G>C
c.121G>C (p.Ala41Pro)
n.568G>C
c.37G>C (p.Ala13Pro)
n.561G>C
n.521G>C
1g.244863971C>TCA345497345HNRNPUc.15G>A
c.337G>A (p.Ala113Thr)
n.522G>A
c.121G>A (p.Ala41Thr)
n.568G>A
c.37G>A (p.Ala13Thr)
n.561G>A
n.521G>A
 dbSNP gnomAD v2 gnomAD v4
1g.244863972G>ACA1486821HNRNPUc.14C>T
c.336C>T (p.Ala112=)
n.521C>T
c.120C>T (p.Ala40=)
n.567C>T
c.36C>T (p.Ala12=)
n.560C>T
n.520C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244863972G>CCA424403466HNRNPUc.14C>G
c.336C>G (p.Ala112=)
n.521C>G
c.120C>G (p.Ala40=)
n.567C>G
c.36C>G (p.Ala12=)
n.560C>G
n.520C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.244863972G=CA1231007532HNRNPUc.14C=
c.336C= (p.Ala112=)
n.521C=
c.120C= (p.Ala40=)
n.567C=
c.36C= (p.Ala12=)
n.560C=
n.520C=

Number of alleles fetched