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.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.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=
1g.244863972G>TCA424403465HNRNPUc.14C>A
c.336C>A (p.Ala112=)
n.521C>A
c.120C>A (p.Ala40=)
n.567C>A
c.36C>A (p.Ala12=)
n.560C>A
n.520C>A
1g.244863972_244863973insCCA2586968604HNRNPUc.13_14insG
c.335_336insG (p.Ala113ArgfsTer?)
n.520_521insG
c.119_120insG (p.Ala41ArgfsTer?)
n.566_567insG
c.35_36insG (p.Ala13ArgfsTer?)
n.559_560insG
n.519_520insG
1g.244863973G>ACA345497346HNRNPUc.13C>T
c.335C>T (p.Ala112Val)
n.520C>T
c.119C>T (p.Ala40Val)
n.566C>T
c.35C>T (p.Ala12Val)
n.559C>T
n.519C>T
1g.244863973G>CCA345497347HNRNPUc.13C>G
c.335C>G (p.Ala112Gly)
n.520C>G
c.119C>G (p.Ala40Gly)
n.566C>G
c.35C>G (p.Ala12Gly)
n.559C>G
n.519C>G
1g.244863973G=CA1231007533HNRNPUc.13C=
c.335C= (p.Ala112=)
n.520C=
c.119C= (p.Ala40=)
n.566C=
c.35C= (p.Ala12=)
n.559C=
n.519C=
1g.244863973G>TCA345497348HNRNPUc.13C>A
c.335C>A (p.Ala112Asp)
n.520C>A
c.119C>A (p.Ala40Asp)
n.566C>A
c.35C>A (p.Ala12Asp)
n.559C>A
n.519C>A
 dbSNP gnomAD v4
1g.244863974C>ACA345497349HNRNPUc.12G>T
c.334G>T (p.Ala112Ser)
n.519G>T
c.118G>T (p.Ala40Ser)
n.565G>T
c.34G>T (p.Ala12Ser)
n.558G>T
n.518G>T
1g.244863974C=CA1231007534HNRNPUc.12G=
c.334G= (p.Ala112=)
n.519G=
c.118G= (p.Ala40=)
n.565G=
c.34G= (p.Ala12=)
n.558G=
n.518G=
1g.244863974C>GCA345497350HNRNPUc.12G>C
c.334G>C (p.Ala112Pro)
n.519G>C
c.118G>C (p.Ala40Pro)
n.565G>C
c.34G>C (p.Ala12Pro)
n.558G>C
n.518G>C
1g.244863974C>TCA345497351HNRNPUc.12G>A
c.334G>A (p.Ala112Thr)
n.519G>A
c.118G>A (p.Ala40Thr)
n.565G>A
c.34G>A (p.Ala12Thr)
n.558G>A
n.518G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244863977dupCA2586968605HNRNPUc.12dup
c.334dup (p.Ala112GlyfsTer?)
n.519dup
c.118dup (p.Ala40GlyfsTer?)
n.565dup
c.34dup (p.Ala12GlyfsTer?)
n.558dup
n.518dup
1g.244863975C>ACA424403471HNRNPUc.11G>T
c.333G>T (p.Gly111=)
n.518G>T
c.117G>T (p.Gly39=)
n.564G>T
c.33G>T (p.Gly11=)
n.557G>T
n.517G>T
1g.244863975C>GCA424403472HNRNPUc.11G>C
c.333G>C (p.Gly111=)
n.518G>C
c.117G>C (p.Gly39=)
n.564G>C
c.33G>C (p.Gly11=)
n.557G>C
n.517G>C
 gnomAD v4
1g.244863975C>TCA424403473HNRNPUc.11G>A
c.333G>A (p.Gly111=)
n.518G>A
c.117G>A (p.Gly39=)
n.564G>A
c.33G>A (p.Gly11=)
n.557G>A
n.517G>A
1g.244863976C>ACA345497352HNRNPUc.10G>T
c.332G>T (p.Gly111Val)
n.517G>T
c.116G>T (p.Gly39Val)
n.563G>T
c.32G>T (p.Gly11Val)
n.556G>T
n.516G>T
1g.244863976C>GCA345497353HNRNPUc.10G>C
c.332G>C (p.Gly111Ala)
n.517G>C
c.116G>C (p.Gly39Ala)
n.563G>C
c.32G>C (p.Gly11Ala)
n.556G>C
n.516G>C
 ClinVar
1g.244863976C>TCA345497354HNRNPUc.10G>A
c.332G>A (p.Gly111Glu)
n.517G>A
c.116G>A (p.Gly39Glu)
n.563G>A
c.32G>A (p.Gly11Glu)
n.556G>A
n.516G>A
1g.244863977C>ACA345497355HNRNPUc.9G>T
c.331G>T (p.Gly111Trp)
n.516G>T
c.115G>T (p.Gly39Trp)
n.562G>T
c.31G>T (p.Gly11Trp)
n.555G>T
n.515G>T
1g.244863977C=CA1231007535HNRNPUc.9G=
c.331G= (p.Gly111=)
n.516G=
c.115G= (p.Gly39=)
n.562G=
c.31G= (p.Gly11=)
n.555G=
n.515G=
1g.244863977C>GCA345497357HNRNPUc.9G>C
c.331G>C (p.Gly111Arg)
n.516G>C
c.115G>C (p.Gly39Arg)
n.562G>C
c.31G>C (p.Gly11Arg)
n.555G>C
n.515G>C
 dbSNP
1g.244863977C>TCA345497356HNRNPUc.9G>A
c.331G>A (p.Gly111Arg)
n.516G>A
c.115G>A (p.Gly39Arg)
n.562G>A
c.31G>A (p.Gly11Arg)
n.555G>A
n.515G>A

Number of alleles fetched