Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108929199_108929380delCA2586969751EDAR,RANBP2c.175_356del
c.226_407del
c.319_500del
c.8370+156153_8370+156334del (n.8370+156153_8370+156334del)
2g.108929201G>ACA348115540EDAR,RANBP2c.353C>T (p.Pro118Leu)
c.404C>T (p.Pro135Leu)
c.497C>T (p.Pro166Leu)
c.8370+156155G>A (n.8370+156155G>A)
2g.108929201G>CCA348115541EDAR,RANBP2c.353C>G (p.Pro118Arg)
c.404C>G (p.Pro135Arg)
c.497C>G (p.Pro166Arg)
c.8370+156155G>C (n.8370+156155G>C)
2g.108929201G>TCA348115542EDAR,RANBP2c.353C>A (p.Pro118His)
c.404C>A (p.Pro135His)
c.497C>A (p.Pro166His)
c.8370+156155G>T (n.8370+156155G>T)
2g.108929202G>ACA348115543EDAR,RANBP2c.352C>T (p.Pro118Ser)
c.403C>T (p.Pro135Ser)
c.496C>T (p.Pro166Ser)
c.8370+156156G>A (n.8370+156156G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929202G>CCA1825121EDAR,RANBP2c.352C>G (p.Pro118Ala)
c.403C>G (p.Pro135Ala)
c.496C>G (p.Pro166Ala)
c.8370+156156G>C (n.8370+156156G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929202G=CA1278368509EDAR,RANBP2c.352C= (p.Pro118=)
c.403C= (p.Pro135=)
c.496C= (p.Pro166=)
c.8370+156156G= (n.8370+156156G=)
2g.108929202G>TCA348115544EDAR,RANBP2c.352C>A (p.Pro118Thr)
c.403C>A (p.Pro135Thr)
c.496C>A (p.Pro166Thr)
c.8370+156156G>T (n.8370+156156G>T)
2g.108929203G>ACA428086797EDAR,RANBP2c.351C>T (p.Leu117=)
c.402C>T (p.Leu134=)
c.495C>T (p.Leu165=)
c.8370+156157G>A (n.8370+156157G>A)
2g.108929203G>CCA428086798EDAR,RANBP2c.351C>G (p.Leu117=)
c.402C>G (p.Leu134=)
c.495C>G (p.Leu165=)
c.8370+156157G>C (n.8370+156157G>C)
2g.108929203G>TCA428086799EDAR,RANBP2c.351C>A (p.Leu117=)
c.402C>A (p.Leu134=)
c.495C>A (p.Leu165=)
c.8370+156157G>T (n.8370+156157G>T)
2g.108929204A>CCA348115545EDAR,RANBP2c.350T>G (p.Leu117Arg)
c.401T>G (p.Leu134Arg)
c.494T>G (p.Leu165Arg)
c.8370+156158A>C (n.8370+156158A>C)
2g.108929204A>GCA348115546EDAR,RANBP2c.350T>C (p.Leu117Pro)
c.401T>C (p.Leu134Pro)
c.494T>C (p.Leu165Pro)
c.8370+156158A>G (n.8370+156158A>G)
2g.108929204A>TCA348115547EDAR,RANBP2c.350T>A (p.Leu117His)
c.401T>A (p.Leu134His)
c.494T>A (p.Leu165His)
c.8370+156158A>T (n.8370+156158A>T)
2g.108929205G>ACA348115550EDAR,RANBP2c.349C>T (p.Leu117Phe)
c.400C>T (p.Leu134Phe)
c.493C>T (p.Leu165Phe)
c.8370+156159G>A (n.8370+156159G>A)
2g.108929205G>CCA348115549EDAR,RANBP2c.349C>G (p.Leu117Val)
c.400C>G (p.Leu134Val)
c.493C>G (p.Leu165Val)
c.8370+156159G>C (n.8370+156159G>C)
2g.108929205G>TCA348115548EDAR,RANBP2c.349C>A (p.Leu117Ile)
c.400C>A (p.Leu134Ile)
c.493C>A (p.Leu165Ile)
c.8370+156159G>T (n.8370+156159G>T)
2g.108929206G>ACA428086802EDAR,RANBP2c.348C>T (p.Cys116=)
c.399C>T (p.Cys133=)
c.492C>T (p.Cys164=)
c.8370+156160G>A (n.8370+156160G>A)
2g.108929206G>CCA348115551EDAR,RANBP2c.348C>G (p.Cys116Trp)
c.399C>G (p.Cys133Trp)
c.492C>G (p.Cys164Trp)
c.8370+156160G>C (n.8370+156160G>C)
2g.108929206G=CA1278368510EDAR,RANBP2c.348C= (p.Cys116=)
c.399C= (p.Cys133=)
c.492C= (p.Cys164=)
c.8370+156160G= (n.8370+156160G=)
2g.108929206G>TCA348115552EDAR,RANBP2c.348C>A (p.Cys116Ter)
c.399C>A (p.Cys133Ter)
c.492C>A (p.Cys164Ter)
c.8370+156160G>T (n.8370+156160G>T)
 dbSNP gnomAD v4
2g.108929207C>ACA348115553EDAR,RANBP2c.347G>T (p.Cys116Phe)
c.398G>T (p.Cys133Phe)
c.491G>T (p.Cys164Phe)
c.8370+156161C>A (n.8370+156161C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108929207C=CA1278368511EDAR,RANBP2c.347G= (p.Cys116=)
c.398G= (p.Cys133=)
c.491G= (p.Cys164=)
c.8370+156161C= (n.8370+156161C=)
2g.108929207C>GCA348115554EDAR,RANBP2c.347G>C (p.Cys116Ser)
c.398G>C (p.Cys133Ser)
c.491G>C (p.Cys164Ser)
c.8370+156161C>G (n.8370+156161C>G)
 gnomAD v4
2g.108929207C>TCA348115555EDAR,RANBP2c.347G>A (p.Cys116Tyr)
c.398G>A (p.Cys133Tyr)
c.491G>A (p.Cys164Tyr)
c.8370+156161C>T (n.8370+156161C>T)
 COSMIC COSMIC
2g.108929208A=CA1278368512EDAR,RANBP2c.346T= (p.Cys116=)
c.397T= (p.Cys133=)
c.490T= (p.Cys164=)
c.8370+156162A= (n.8370+156162A=)
2g.108929208A>CCA348115556EDAR,RANBP2c.346T>G (p.Cys116Gly)
c.397T>G (p.Cys133Gly)
c.490T>G (p.Cys164Gly)
c.8370+156162A>C (n.8370+156162A>C)
2g.108929208A>GCA54012141EDAR,RANBP2c.346T>C (p.Cys116Arg)
c.397T>C (p.Cys133Arg)
c.490T>C (p.Cys164Arg)
c.8370+156162A>G (n.8370+156162A>G)
 dbSNP gnomAD v4
2g.108929208A>TCA348115557EDAR,RANBP2c.346T>A (p.Cys116Ser)
c.397T>A (p.Cys133Ser)
c.490T>A (p.Cys164Ser)
c.8370+156162A>T (n.8370+156162A>T)
2g.108929209A>CCA428086803EDAR,RANBP2c.345T>G (p.Pro115=)
c.396T>G (p.Pro132=)
c.489T>G (p.Pro163=)
c.8370+156163A>C (n.8370+156163A>C)
2g.108929209A>GCA428086804EDAR,RANBP2c.345T>C (p.Pro115=)
c.396T>C (p.Pro132=)
c.489T>C (p.Pro163=)
c.8370+156163A>G (n.8370+156163A>G)
2g.108929209A>TCA428086805EDAR,RANBP2c.345T>A (p.Pro115=)
c.396T>A (p.Pro132=)
c.489T>A (p.Pro163=)
c.8370+156163A>T (n.8370+156163A>T)
2g.108929209_108929210delinsAGCA1278368513EDAR,RANBP2c.344_345delinsCT (p.Pro115=)
c.395_396delinsCT (p.Pro132=)
c.488_489delinsCT (p.Pro163=)
c.8370+156163_8370+156164delinsAG (n.8370+156163_8370+156164delinsAG)
2g.108929210G>ACA1825123EDAR,RANBP2c.344C>T (p.Pro115Leu)
c.395C>T (p.Pro132Leu)
c.488C>T (p.Pro163Leu)
c.8370+156164G>A (n.8370+156164G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929210G>CCA348115558EDAR,RANBP2c.344C>G (p.Pro115Arg)
c.395C>G (p.Pro132Arg)
c.488C>G (p.Pro163Arg)
c.8370+156164G>C (n.8370+156164G>C)
2g.108929210G=CA1278368514EDAR,RANBP2c.344C= (p.Pro115=)
c.395C= (p.Pro132=)
c.488C= (p.Pro163=)
c.8370+156164G= (n.8370+156164G=)
2g.108929210G>TCA348115559EDAR,RANBP2c.344C>A (p.Pro115His)
c.395C>A (p.Pro132His)
c.488C>A (p.Pro163His)
c.8370+156164G>T (n.8370+156164G>T)
2g.108929212delCA1825122EDAR,RANBP2c.344del (p.Pro115LeufsTer?)
c.395del (p.Pro132LeufsTer?)
c.488del (p.Pro163LeufsTer?)
c.8370+156166del (n.8370+156166del)
 dbSNP ExAC
2g.108929211G>ACA348115560EDAR,RANBP2c.343C>T (p.Pro115Ser)
c.394C>T (p.Pro132Ser)
c.487C>T (p.Pro163Ser)
c.8370+156165G>A (n.8370+156165G>A)
 dbSNP gnomAD v4
2g.108929211G>CCA1825124EDAR,RANBP2c.343C>G (p.Pro115Ala)
c.394C>G (p.Pro132Ala)
c.487C>G (p.Pro163Ala)
c.8370+156165G>C (n.8370+156165G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929211G=CA1278368515EDAR,RANBP2c.343C= (p.Pro115=)
c.394C= (p.Pro132=)
c.487C= (p.Pro163=)
c.8370+156165G= (n.8370+156165G=)
2g.108929211G>TCA348115561EDAR,RANBP2c.343C>A (p.Pro115Thr)
c.394C>A (p.Pro132Thr)
c.487C>A (p.Pro163Thr)
c.8370+156165G>T (n.8370+156165G>T)
2g.108929212G>ACA54012142EDAR,RANBP2c.342C>T (p.Gly114=)
c.393C>T (p.Gly131=)
c.486C>T (p.Gly162=)
c.8370+156166G>A (n.8370+156166G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108929212G>CCA428086806EDAR,RANBP2c.342C>G (p.Gly114=)
c.393C>G (p.Gly131=)
c.486C>G (p.Gly162=)
c.8370+156166G>C (n.8370+156166G>C)
2g.108929212G=CA1278368516EDAR,RANBP2c.342C= (p.Gly114=)
c.393C= (p.Gly131=)
c.486C= (p.Gly162=)
c.8370+156166G= (n.8370+156166G=)
2g.108929212G>TCA428086807EDAR,RANBP2c.342C>A (p.Gly114=)
c.393C>A (p.Gly131=)
c.486C>A (p.Gly162=)
c.8370+156166G>T (n.8370+156166G>T)
2g.108929213C>ACA348115564EDAR,RANBP2c.341G>T (p.Gly114Val)
c.392G>T (p.Gly131Val)
c.485G>T (p.Gly162Val)
c.8370+156167C>A (n.8370+156167C>A)
2g.108929213C>GCA348115562EDAR,RANBP2c.341G>C (p.Gly114Ala)
c.392G>C (p.Gly131Ala)
c.485G>C (p.Gly162Ala)
c.8370+156167C>G (n.8370+156167C>G)
2g.108929213C>TCA348115563EDAR,RANBP2c.341G>A (p.Gly114Asp)
c.392G>A (p.Gly131Asp)
c.485G>A (p.Gly162Asp)
c.8370+156167C>T (n.8370+156167C>T)
2g.108929214C>ACA348115565EDAR,RANBP2c.340G>T (p.Gly114Cys)
c.391G>T (p.Gly131Cys)
c.484G>T (p.Gly162Cys)
c.8370+156168C>A (n.8370+156168C>A)
2g.108929214C>GCA348115566EDAR,RANBP2c.340G>C (p.Gly114Arg)
c.391G>C (p.Gly131Arg)
c.484G>C (p.Gly162Arg)
c.8370+156168C>G (n.8370+156168C>G)
2g.108929214C>TCA348115567EDAR,RANBP2c.340G>A (p.Gly114Ser)
c.391G>A (p.Gly131Ser)
c.484G>A (p.Gly162Ser)
c.8370+156168C>T (n.8370+156168C>T)
2g.108929215A>CCA348115568EDAR,RANBP2c.339T>G (p.Cys113Trp)
c.390T>G (p.Cys130Trp)
c.483T>G (p.Cys161Trp)
c.8370+156169A>C (n.8370+156169A>C)
2g.108929215A>GCA428086808EDAR,RANBP2c.339T>C (p.Cys113=)
c.390T>C (p.Cys130=)
c.483T>C (p.Cys161=)
c.8370+156169A>G (n.8370+156169A>G)
2g.108929215A>TCA348115569EDAR,RANBP2c.339T>A (p.Cys113Ter)
c.390T>A (p.Cys130Ter)
c.483T>A (p.Cys161Ter)
c.8370+156169A>T (n.8370+156169A>T)
2g.108929216C>ACA348115570EDAR,RANBP2c.338G>T (p.Cys113Phe)
c.389G>T (p.Cys130Phe)
c.482G>T (p.Cys161Phe)
c.8370+156170C>A (n.8370+156170C>A)
2g.108929216C=CA1278368517EDAR,RANBP2c.338G= (p.Cys113=)
c.389G= (p.Cys130=)
c.482G= (p.Cys161=)
c.8370+156170C= (n.8370+156170C=)
2g.108929216C>GCA348115571EDAR,RANBP2c.338G>C (p.Cys113Ser)
c.389G>C (p.Cys130Ser)
c.482G>C (p.Cys161Ser)
c.8370+156170C>G (n.8370+156170C>G)
2g.108929216C>TCA348115572EDAR,RANBP2c.338G>A (p.Cys113Tyr)
c.389G>A (p.Cys130Tyr)
c.482G>A (p.Cys161Tyr)
c.8370+156170C>T (n.8370+156170C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929217A>CCA348115573EDAR,RANBP2c.337T>G (p.Cys113Gly)
c.388T>G (p.Cys130Gly)
c.481T>G (p.Cys161Gly)
c.8370+156171A>C (n.8370+156171A>C)
2g.108929217A>GCA348115574EDAR,RANBP2c.337T>C (p.Cys113Arg)
c.388T>C (p.Cys130Arg)
c.481T>C (p.Cys161Arg)
c.8370+156171A>G (n.8370+156171A>G)
2g.108929217A>TCA348115575EDAR,RANBP2c.337T>A (p.Cys113Ser)
c.388T>A (p.Cys130Ser)
c.481T>A (p.Cys161Ser)
c.8370+156171A>T (n.8370+156171A>T)
2g.108929218C>ACA348115576EDAR,RANBP2c.336G>T (p.Glu112Asp)
c.387G>T (p.Glu129Asp)
c.480G>T (p.Glu160Asp)
c.8370+156172C>A (n.8370+156172C>A)
 gnomAD v4
2g.108929218C>GCA348115577EDAR,RANBP2c.336G>C (p.Glu112Asp)
c.387G>C (p.Glu129Asp)
c.480G>C (p.Glu160Asp)
c.8370+156172C>G (n.8370+156172C>G)
2g.108929218C>TCA428086809EDAR,RANBP2c.336G>A (p.Glu112=)
c.387G>A (p.Glu129=)
c.480G>A (p.Glu160=)
c.8370+156172C>T (n.8370+156172C>T)
2g.108929219T>ACA348115580EDAR,RANBP2c.335A>T (p.Glu112Val)
c.386A>T (p.Glu129Val)
c.479A>T (p.Glu160Val)
c.8370+156173T>A (n.8370+156173T>A)
2g.108929219T>CCA348115578EDAR,RANBP2c.335A>G (p.Glu112Gly)
c.386A>G (p.Glu129Gly)
c.479A>G (p.Glu160Gly)
c.8370+156173T>C (n.8370+156173T>C)
2g.108929219T>GCA348115579EDAR,RANBP2c.335A>C (p.Glu112Ala)
c.386A>C (p.Glu129Ala)
c.479A>C (p.Glu160Ala)
c.8370+156173T>G (n.8370+156173T>G)
 dbSNP
2g.108929219T=CA1278368518EDAR,RANBP2c.335A= (p.Glu112=)
c.386A= (p.Glu129=)
c.479A= (p.Glu160=)
c.8370+156173T= (n.8370+156173T=)
2g.108929220C>ACA348115581EDAR,RANBP2c.334G>T (p.Glu112Ter)
c.385G>T (p.Glu129Ter)
c.478G>T (p.Glu160Ter)
c.8370+156174C>A (n.8370+156174C>A)
 dbSNP gnomAD v2
2g.108929220C=CA1278368519EDAR,RANBP2c.334G= (p.Glu112=)
c.385G= (p.Glu129=)
c.478G= (p.Glu160=)
c.8370+156174C= (n.8370+156174C=)
2g.108929220C>GCA348115582EDAR,RANBP2c.334G>C (p.Glu112Gln)
c.385G>C (p.Glu129Gln)
c.478G>C (p.Glu160Gln)
c.8370+156174C>G (n.8370+156174C>G)
2g.108929220C>TCA348115583EDAR,RANBP2c.334G>A (p.Glu112Lys)
c.385G>A (p.Glu129Lys)
c.478G>A (p.Glu160Lys)
c.8370+156174C>T (n.8370+156174C>T)
2g.108929221A=CA1278368520EDAR,RANBP2c.333T= (p.Ala111=)
c.384T= (p.Ala128=)
c.477T= (p.Ala159=)
c.8370+156175A= (n.8370+156175A=)
2g.108929221A>CCA428086810EDAR,RANBP2c.333T>G (p.Ala111=)
c.384T>G (p.Ala128=)
c.477T>G (p.Ala159=)
c.8370+156175A>C (n.8370+156175A>C)
2g.108929221A>GCA1825125EDAR,RANBP2c.333T>C (p.Ala111=)
c.384T>C (p.Ala128=)
c.477T>C (p.Ala159=)
c.8370+156175A>G (n.8370+156175A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929221A>TCA428086811EDAR,RANBP2c.333T>A (p.Ala111=)
c.384T>A (p.Ala128=)
c.477T>A (p.Ala159=)
c.8370+156175A>T (n.8370+156175A>T)
2g.108929222G>ACA348115584EDAR,RANBP2c.332C>T (p.Ala111Val)
c.383C>T (p.Ala128Val)
c.476C>T (p.Ala159Val)
c.8370+156176G>A (n.8370+156176G>A)
2g.108929222G>CCA348115585EDAR,RANBP2c.332C>G (p.Ala111Gly)
c.383C>G (p.Ala128Gly)
c.476C>G (p.Ala159Gly)
c.8370+156176G>C (n.8370+156176G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.108929222G=CA1278368521EDAR,RANBP2c.332C= (p.Ala111=)
c.383C= (p.Ala128=)
c.476C= (p.Ala159=)
c.8370+156176G= (n.8370+156176G=)
2g.108929222G>TCA348115586EDAR,RANBP2c.332C>A (p.Ala111Asp)
c.383C>A (p.Ala128Asp)
c.476C>A (p.Ala159Asp)
c.8370+156176G>T (n.8370+156176G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929223_108929224dupCA2660611275EDAR,RANBP2c.331_332dup (p.Glu112LeufsTer?)
c.382_383dup (p.Glu129LeufsTer?)
c.475_476dup (p.Glu160LeufsTer?)
c.8370+156177_8370+156178dup (n.8370+156177_8370+156178dup)
 gnomAD v4
2g.108929223C>ACA1825126EDAR,RANBP2c.331G>T (p.Ala111Ser)
c.382G>T (p.Ala128Ser)
c.475G>T (p.Ala159Ser)
c.8370+156177C>A (n.8370+156177C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929223C=CA1278368522EDAR,RANBP2c.331G= (p.Ala111=)
c.382G= (p.Ala128=)
c.475G= (p.Ala159=)
c.8370+156177C= (n.8370+156177C=)
2g.108929223C>GCA348115587EDAR,RANBP2c.331G>C (p.Ala111Pro)
c.382G>C (p.Ala128Pro)
c.475G>C (p.Ala159Pro)
c.8370+156177C>G (n.8370+156177C>G)
2g.108929223C>TCA348115588EDAR,RANBP2c.331G>A (p.Ala111Thr)
c.382G>A (p.Ala128Thr)
c.475G>A (p.Ala159Thr)
c.8370+156177C>T (n.8370+156177C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929224G>ACA1825127EDAR,RANBP2c.330C>T (p.Asp110=)
c.381C>T (p.Asp127=)
c.474C>T (p.Asp158=)
c.8370+156178G>A (n.8370+156178G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929224G>CCA348115589EDAR,RANBP2c.330C>G (p.Asp110Glu)
c.381C>G (p.Asp127Glu)
c.474C>G (p.Asp158Glu)
c.8370+156178G>C (n.8370+156178G>C)
2g.108929224G=CA1278368523EDAR,RANBP2c.330C= (p.Asp110=)
c.381C= (p.Asp127=)
c.474C= (p.Asp158=)
c.8370+156178G= (n.8370+156178G=)
2g.108929224G>TCA348115590EDAR,RANBP2c.330C>A (p.Asp110Glu)
c.381C>A (p.Asp127Glu)
c.474C>A (p.Asp158Glu)
c.8370+156178G>T (n.8370+156178G>T)
2g.108929225T>ACA348115592EDAR,RANBP2c.329A>T (p.Asp110Val)
c.380A>T (p.Asp127Val)
c.473A>T (p.Asp158Val)
c.8370+156179T>A (n.8370+156179T>A)
2g.108929225T>CCA348115591EDAR,RANBP2c.329A>G (p.Asp110Gly)
c.380A>G (p.Asp127Gly)
c.473A>G (p.Asp158Gly)
c.8370+156179T>C (n.8370+156179T>C)
2g.108929225T>GCA253632EDAR,RANBP2c.329A>C (p.Asp110Ala)
c.380A>C (p.Asp127Ala)
c.473A>C (p.Asp158Ala)
c.8370+156179T>G (n.8370+156179T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929225T=CA1278368524EDAR,RANBP2c.329A= (p.Asp110=)
c.380A= (p.Asp127=)
c.473A= (p.Asp158=)
c.8370+156179T= (n.8370+156179T=)
2g.108929226C>ACA348115593EDAR,RANBP2c.328G>T (p.Asp110Tyr)
c.379G>T (p.Asp127Tyr)
c.472G>T (p.Asp158Tyr)
c.8370+156180C>A (n.8370+156180C>A)
2g.108929226C=CA1278368525EDAR,RANBP2c.328G= (p.Asp110=)
c.379G= (p.Asp127=)
c.472G= (p.Asp158=)
c.8370+156180C= (n.8370+156180C=)
2g.108929226C>GCA348115594EDAR,RANBP2c.328G>C (p.Asp110His)
c.379G>C (p.Asp127His)
c.472G>C (p.Asp158His)
c.8370+156180C>G (n.8370+156180C>G)
2g.108929226C>TCA348115595EDAR,RANBP2c.328G>A (p.Asp110Asn)
c.379G>A (p.Asp127Asn)
c.472G>A (p.Asp158Asn)
c.8370+156180C>T (n.8370+156180C>T)
 ClinVar dbSNP gnomAD v4
2g.108929227A>CCA348115596EDAR,RANBP2c.327T>G (p.Asn109Lys)
c.378T>G (p.Asn126Lys)
c.471T>G (p.Asn157Lys)
c.8370+156181A>C (n.8370+156181A>C)
2g.108929227A>GCA428086812EDAR,RANBP2c.327T>C (p.Asn109=)
c.378T>C (p.Asn126=)
c.471T>C (p.Asn157=)
c.8370+156181A>G (n.8370+156181A>G)
2g.108929227A>TCA348115597EDAR,RANBP2c.327T>A (p.Asn109Lys)
c.378T>A (p.Asn126Lys)
c.471T>A (p.Asn157Lys)
c.8370+156181A>T (n.8370+156181A>T)
2g.108929228T>ACA348115598EDAR,RANBP2c.326A>T (p.Asn109Ile)
c.377A>T (p.Asn126Ile)
c.470A>T (p.Asn157Ile)
c.8370+156182T>A (n.8370+156182T>A)
 dbSNP
2g.108929228T>CCA348115599EDAR,RANBP2c.326A>G (p.Asn109Ser)
c.377A>G (p.Asn126Ser)
c.470A>G (p.Asn157Ser)
c.8370+156182T>C (n.8370+156182T>C)
2g.108929228T>GCA348115600EDAR,RANBP2c.326A>C (p.Asn109Thr)
c.377A>C (p.Asn126Thr)
c.470A>C (p.Asn157Thr)
c.8370+156182T>G (n.8370+156182T>G)
2g.108929228T=CA1278368526EDAR,RANBP2c.326A= (p.Asn109=)
c.377A= (p.Asn126=)
c.470A= (p.Asn157=)
c.8370+156182T= (n.8370+156182T=)
2g.108929229T>ACA348115601EDAR,RANBP2c.325A>T (p.Asn109Tyr)
c.376A>T (p.Asn126Tyr)
c.469A>T (p.Asn157Tyr)
c.8370+156183T>A (n.8370+156183T>A)
 dbSNP
2g.108929229T>CCA348115602EDAR,RANBP2c.325A>G (p.Asn109Asp)
c.376A>G (p.Asn126Asp)
c.469A>G (p.Asn157Asp)
c.8370+156183T>C (n.8370+156183T>C)
2g.108929229T>GCA348115603EDAR,RANBP2c.325A>C (p.Asn109His)
c.376A>C (p.Asn126His)
c.469A>C (p.Asn157His)
c.8370+156183T>G (n.8370+156183T>G)
2g.108929229T=CA1278368527EDAR,RANBP2c.325A= (p.Asn109=)
c.376A= (p.Asn126=)
c.469A= (p.Asn157=)
c.8370+156183T= (n.8370+156183T=)
2g.108929230C>ACA348115604EDAR,RANBP2c.324G>T (p.Glu108Asp)
c.375G>T (p.Glu125Asp)
c.468G>T (p.Glu156Asp)
c.8370+156184C>A (n.8370+156184C>A)
2g.108929230C>GCA348115605EDAR,RANBP2c.324G>C (p.Glu108Asp)
c.375G>C (p.Glu125Asp)
c.468G>C (p.Glu156Asp)
c.8370+156184C>G (n.8370+156184C>G)
2g.108929230C>TCA428086813EDAR,RANBP2c.324G>A (p.Glu108=)
c.375G>A (p.Glu125=)
c.468G>A (p.Glu156=)
c.8370+156184C>T (n.8370+156184C>T)
 COSMIC
2g.108929231T>ACA348115607EDAR,RANBP2c.323A>T (p.Glu108Val)
c.374A>T (p.Glu125Val)
c.467A>T (p.Glu156Val)
c.8370+156185T>A (n.8370+156185T>A)
2g.108929231T>CCA348115608EDAR,RANBP2c.323A>G (p.Glu108Gly)
c.374A>G (p.Glu125Gly)
c.467A>G (p.Glu156Gly)
c.8370+156185T>C (n.8370+156185T>C)
2g.108929231T>GCA348115606EDAR,RANBP2c.323A>C (p.Glu108Ala)
c.374A>C (p.Glu125Ala)
c.467A>C (p.Glu156Ala)
c.8370+156185T>G (n.8370+156185T>G)
2g.108929232C>ACA348115609EDAR,RANBP2c.322G>T (p.Glu108Ter)
c.373G>T (p.Glu125Ter)
c.466G>T (p.Glu156Ter)
c.8370+156186C>A (n.8370+156186C>A)
2g.108929232C>GCA348115610EDAR,RANBP2c.322G>C (p.Glu108Gln)
c.373G>C (p.Glu125Gln)
c.466G>C (p.Glu156Gln)
c.8370+156186C>G (n.8370+156186C>G)
 gnomAD v4
2g.108929232C>TCA348115611EDAR,RANBP2c.322G>A (p.Glu108Lys)
c.373G>A (p.Glu125Lys)
c.466G>A (p.Glu156Lys)
c.8370+156186C>T (n.8370+156186C>T)
2g.108929233C>ACA348115612EDAR,RANBP2c.321G>T (p.Met107Ile)
c.372G>T (p.Met124Ile)
c.465G>T (p.Met155Ile)
c.8370+156187C>A (n.8370+156187C>A)
2g.108929233C>GCA348115613EDAR,RANBP2c.321G>C (p.Met107Ile)
c.372G>C (p.Met124Ile)
c.465G>C (p.Met155Ile)
c.8370+156187C>G (n.8370+156187C>G)
2g.108929233C>TCA348115614EDAR,RANBP2c.321G>A (p.Met107Ile)
c.372G>A (p.Met124Ile)
c.465G>A (p.Met155Ile)
c.8370+156187C>T (n.8370+156187C>T)
 ClinVar gnomAD v4
2g.108929234A=CA1278368528EDAR,RANBP2c.320T= (p.Met107=)
c.371T= (p.Met124=)
c.464T= (p.Met155=)
c.8370+156188A= (n.8370+156188A=)
2g.108929234A>CCA348115617EDAR,RANBP2c.320T>G (p.Met107Arg)
c.371T>G (p.Met124Arg)
c.464T>G (p.Met155Arg)
c.8370+156188A>C (n.8370+156188A>C)
2g.108929234A>GCA348115615EDAR,RANBP2c.320T>C (p.Met107Thr)
c.371T>C (p.Met124Thr)
c.464T>C (p.Met155Thr)
c.8370+156188A>G (n.8370+156188A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108929234A>TCA348115616EDAR,RANBP2c.320T>A (p.Met107Lys)
c.371T>A (p.Met124Lys)
c.464T>A (p.Met155Lys)
c.8370+156188A>T (n.8370+156188A>T)
2g.108929235T>ACA348115618EDAR,RANBP2c.319A>T (p.Met107Leu)
c.370A>T (p.Met124Leu)
c.463A>T (p.Met155Leu)
c.8370+156189T>A (n.8370+156189T>A)
2g.108929235T>CCA1825128EDAR,RANBP2c.319A>G (p.Met107Val)
c.370A>G (p.Met124Val)
c.463A>G (p.Met155Val)
c.8370+156189T>C (n.8370+156189T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929235T>GCA348115619EDAR,RANBP2c.319A>C (p.Met107Leu)
c.370A>C (p.Met124Leu)
c.463A>C (p.Met155Leu)
c.8370+156189T>G (n.8370+156189T>G)
2g.108929235T=CA1278368529EDAR,RANBP2c.319A= (p.Met107=)
c.370A= (p.Met124=)
c.463A= (p.Met155=)
c.8370+156189T= (n.8370+156189T=)
2g.108929236G>ACA428086815EDAR,RANBP2c.318C>T (p.Asp106=)
c.369C>T (p.Asp123=)
c.462C>T (p.Asp154=)
c.8370+156190G>A (n.8370+156190G>A)
 gnomAD v4
2g.108929236G>CCA348115620EDAR,RANBP2c.318C>G (p.Asp106Glu)
c.369C>G (p.Asp123Glu)
c.462C>G (p.Asp154Glu)
c.8370+156190G>C (n.8370+156190G>C)
2g.108929236G>TCA348115621EDAR,RANBP2c.318C>A (p.Asp106Glu)
c.369C>A (p.Asp123Glu)
c.462C>A (p.Asp154Glu)
c.8370+156190G>T (n.8370+156190G>T)
 COSMIC COSMIC
2g.108929237T>ACA348115623EDAR,RANBP2c.317A>T (p.Asp106Val)
c.368A>T (p.Asp123Val)
c.461A>T (p.Asp154Val)
c.8370+156191T>A (n.8370+156191T>A)
2g.108929237T>CCA1825129EDAR,RANBP2c.317A>G (p.Asp106Gly)
c.368A>G (p.Asp123Gly)
c.461A>G (p.Asp154Gly)
c.8370+156191T>C (n.8370+156191T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929237T>GCA348115622EDAR,RANBP2c.317A>C (p.Asp106Ala)
c.368A>C (p.Asp123Ala)
c.461A>C (p.Asp154Ala)
c.8370+156191T>G (n.8370+156191T>G)
2g.108929237T=CA1278368530EDAR,RANBP2c.317A= (p.Asp106=)
c.368A= (p.Asp123=)
c.461A= (p.Asp154=)
c.8370+156191T= (n.8370+156191T=)
2g.108929238C>ACA348115624EDAR,RANBP2c.316G>T (p.Asp106Tyr)
c.367G>T (p.Asp123Tyr)
c.460G>T (p.Asp154Tyr)
c.8370+156192C>A (n.8370+156192C>A)
2g.108929238C>GCA348115625EDAR,RANBP2c.316G>C (p.Asp106His)
c.367G>C (p.Asp123His)
c.460G>C (p.Asp154His)
c.8370+156192C>G (n.8370+156192C>G)
2g.108929238C>TCA348115626EDAR,RANBP2c.316G>A (p.Asp106Asn)
c.367G>A (p.Asp123Asn)
c.460G>A (p.Asp154Asn)
c.8370+156192C>T (n.8370+156192C>T)
 gnomAD v4
2g.108929239C>ACA428086816EDAR,RANBP2c.315G>T (p.Gly105=)
c.366G>T (p.Gly122=)
c.459G>T (p.Gly153=)
c.8370+156193C>A (n.8370+156193C>A)
 gnomAD v4
2g.108929239C=CA1278368531EDAR,RANBP2c.315G= (p.Gly105=)
c.366G= (p.Gly122=)
c.459G= (p.Gly153=)
c.8370+156193C= (n.8370+156193C=)
2g.108929239C>GCA428086817EDAR,RANBP2c.315G>C (p.Gly105=)
c.366G>C (p.Gly122=)
c.459G>C (p.Gly153=)
c.8370+156193C>G (n.8370+156193C>G)
2g.108929239C>TCA54012143EDAR,RANBP2c.315G>A (p.Gly105=)
c.366G>A (p.Gly122=)
c.459G>A (p.Gly153=)
c.8370+156193C>T (n.8370+156193C>T)
 dbSNP
2g.108929240C>ACA348115627EDAR,RANBP2c.314G>T (p.Gly105Val)
c.365G>T (p.Gly122Val)
c.458G>T (p.Gly153Val)
c.8370+156194C>A (n.8370+156194C>A)
2g.108929240C=CA1278368532EDAR,RANBP2c.314G= (p.Gly105=)
c.365G= (p.Gly122=)
c.458G= (p.Gly153=)
c.8370+156194C= (n.8370+156194C=)
2g.108929240C>GCA348115628EDAR,RANBP2c.314G>C (p.Gly105Ala)
c.365G>C (p.Gly122Ala)
c.458G>C (p.Gly153Ala)
c.8370+156194C>G (n.8370+156194C>G)
2g.108929240C>TCA348115629EDAR,RANBP2c.314G>A (p.Gly105Glu)
c.365G>A (p.Gly122Glu)
c.458G>A (p.Gly153Glu)
c.8370+156194C>T (n.8370+156194C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929241C>ACA348115630EDAR,RANBP2c.313G>T (p.Gly105Trp)
c.364G>T (p.Gly122Trp)
c.457G>T (p.Gly153Trp)
c.8370+156195C>A (n.8370+156195C>A)
2g.108929241C>GCA348115631EDAR,RANBP2c.313G>C (p.Gly105Arg)
c.364G>C (p.Gly122Arg)
c.457G>C (p.Gly153Arg)
c.8370+156195C>G (n.8370+156195C>G)
 gnomAD v4
2g.108929241C>TCA348115632EDAR,RANBP2c.313G>A (p.Gly105Arg)
c.364G>A (p.Gly122Arg)
c.457G>A (p.Gly153Arg)
c.8370+156195C>T (n.8370+156195C>T)
2g.108929242T>ACA428086818EDAR,RANBP2c.312A>T (p.Pro104=)
c.363A>T (p.Pro121=)
c.456A>T (p.Pro152=)
c.8370+156196T>A (n.8370+156196T>A)
2g.108929242T>CCA428086820EDAR,RANBP2c.312A>G (p.Pro104=)
c.363A>G (p.Pro121=)
c.456A>G (p.Pro152=)
c.8370+156196T>C (n.8370+156196T>C)
2g.108929242T>GCA428086819EDAR,RANBP2c.312A>C (p.Pro104=)
c.363A>C (p.Pro121=)
c.456A>C (p.Pro152=)
c.8370+156196T>G (n.8370+156196T>G)
2g.108929243G>ACA348115633EDAR,RANBP2c.311C>T (p.Pro104Leu)
c.362C>T (p.Pro121Leu)
c.455C>T (p.Pro152Leu)
c.8370+156197G>A (n.8370+156197G>A)
2g.108929243G>CCA348115634EDAR,RANBP2c.311C>G (p.Pro104Arg)
c.362C>G (p.Pro121Arg)
c.455C>G (p.Pro152Arg)
c.8370+156197G>C (n.8370+156197G>C)
2g.108929243G>TCA348115635EDAR,RANBP2c.311C>A (p.Pro104Gln)
c.362C>A (p.Pro121Gln)
c.455C>A (p.Pro152Gln)
c.8370+156197G>T (n.8370+156197G>T)
2g.108929244G>ACA348115636EDAR,RANBP2c.310C>T (p.Pro104Ser)
c.361C>T (p.Pro121Ser)
c.454C>T (p.Pro152Ser)
c.8370+156198G>A (n.8370+156198G>A)
2g.108929244G>CCA348115638EDAR,RANBP2c.310C>G (p.Pro104Ala)
c.361C>G (p.Pro121Ala)
c.454C>G (p.Pro152Ala)
c.8370+156198G>C (n.8370+156198G>C)
2g.108929244G>TCA348115637EDAR,RANBP2c.310C>A (p.Pro104Thr)
c.361C>A (p.Pro121Thr)
c.454C>A (p.Pro152Thr)
c.8370+156198G>T (n.8370+156198G>T)
2g.108929245T>ACA428086821EDAR,RANBP2c.309A>T (p.Thr103=)
c.360A>T (p.Thr120=)
c.453A>T (p.Thr151=)
c.8370+156199T>A (n.8370+156199T>A)
2g.108929245T>CCA428086822EDAR,RANBP2c.309A>G (p.Thr103=)
c.360A>G (p.Thr120=)
c.453A>G (p.Thr151=)
c.8370+156199T>C (n.8370+156199T>C)
2g.108929245T>GCA428086823EDAR,RANBP2c.309A>C (p.Thr103=)
c.360A>C (p.Thr120=)
c.453A>C (p.Thr151=)
c.8370+156199T>G (n.8370+156199T>G)
2g.108929245dupCA2700333675EDAR,RANBP2c.309dup (p.Pro104ThrfsTer7)
c.360dup (p.Pro121ThrfsTer7)
c.453dup (p.Pro152ThrfsTer7)
c.8370+156199dup (n.8370+156199dup)
 dbSNP
2g.108929246G>ACA348115639EDAR,RANBP2c.308C>T (p.Thr103Ile)
c.359C>T (p.Thr120Ile)
c.452C>T (p.Thr151Ile)
c.8370+156200G>A (n.8370+156200G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929246G>CCA348115640EDAR,RANBP2c.308C>G (p.Thr103Arg)
c.359C>G (p.Thr120Arg)
c.452C>G (p.Thr151Arg)
c.8370+156200G>C (n.8370+156200G>C)
2g.108929246G=CA1278368533EDAR,RANBP2c.308C= (p.Thr103=)
c.359C= (p.Thr120=)
c.452C= (p.Thr151=)
c.8370+156200G= (n.8370+156200G=)
2g.108929246G>TCA348115641EDAR,RANBP2c.308C>A (p.Thr103Lys)
c.359C>A (p.Thr120Lys)
c.452C>A (p.Thr151Lys)
c.8370+156200G>T (n.8370+156200G>T)
2g.108929247T>ACA348115642EDAR,RANBP2c.307A>T (p.Thr103Ser)
c.358A>T (p.Thr120Ser)
c.451A>T (p.Thr151Ser)
c.8370+156201T>A (n.8370+156201T>A)
2g.108929247T>CCA348115643EDAR,RANBP2c.307A>G (p.Thr103Ala)
c.358A>G (p.Thr120Ala)
c.451A>G (p.Thr151Ala)
c.8370+156201T>C (n.8370+156201T>C)
2g.108929247T>GCA348115644EDAR,RANBP2c.307A>C (p.Thr103Pro)
c.358A>C (p.Thr120Pro)
c.451A>C (p.Thr151Pro)
c.8370+156201T>G (n.8370+156201T>G)
2g.108929248C>ACA428086824EDAR,RANBP2c.306G>T (p.Leu102=)
c.357G>T (p.Leu119=)
c.450G>T (p.Leu150=)
c.8370+156202C>A (n.8370+156202C>A)
2g.108929248C=CA1278368534EDAR,RANBP2c.306G= (p.Leu102=)
c.357G= (p.Leu119=)
c.450G= (p.Leu150=)
c.8370+156202C= (n.8370+156202C=)
2g.108929248C>GCA428086825EDAR,RANBP2c.306G>C (p.Leu102=)
c.357G>C (p.Leu119=)
c.450G>C (p.Leu150=)
c.8370+156202C>G (n.8370+156202C>G)
2g.108929248C>TCA54012144EDAR,RANBP2c.306G>A (p.Leu102=)
c.357G>A (p.Leu119=)
c.450G>A (p.Leu150=)
c.8370+156202C>T (n.8370+156202C>T)
 dbSNP
2g.108929249A>CCA348115645EDAR,RANBP2c.305T>G (p.Leu102Arg)
c.356T>G (p.Leu119Arg)
c.449T>G (p.Leu150Arg)
c.8370+156203A>C (n.8370+156203A>C)
2g.108929249A>GCA348115646EDAR,RANBP2c.305T>C (p.Leu102Pro)
c.356T>C (p.Leu119Pro)
c.449T>C (p.Leu150Pro)
c.8370+156203A>G (n.8370+156203A>G)
2g.108929249A>TCA348115647EDAR,RANBP2c.305T>A (p.Leu102Gln)
c.356T>A (p.Leu119Gln)
c.449T>A (p.Leu150Gln)
c.8370+156203A>T (n.8370+156203A>T)
2g.108929250G>ACA428086826EDAR,RANBP2c.304C>T (p.Leu102=)
c.355C>T (p.Leu119=)
c.448C>T (p.Leu150=)
c.8370+156204G>A (n.8370+156204G>A)
2g.108929250G>CCA348115648EDAR,RANBP2c.304C>G (p.Leu102Val)
c.355C>G (p.Leu119Val)
c.448C>G (p.Leu150Val)
c.8370+156204G>C (n.8370+156204G>C)
2g.108929250G>TCA348115649EDAR,RANBP2c.304C>A (p.Leu102Met)
c.355C>A (p.Leu119Met)
c.448C>A (p.Leu150Met)
c.8370+156204G>T (n.8370+156204G>T)
2g.108929251C>ACA428086828EDAR,RANBP2c.303G>T (p.Val101=)
c.354G>T (p.Val118=)
c.447G>T (p.Val149=)
c.8370+156205C>A (n.8370+156205C>A)
2g.108929251C>GCA428086829EDAR,RANBP2c.303G>C (p.Val101=)
c.354G>C (p.Val118=)
c.447G>C (p.Val149=)
c.8370+156205C>G (n.8370+156205C>G)
2g.108929251C>TCA428086827EDAR,RANBP2c.303G>A (p.Val101=)
c.354G>A (p.Val118=)
c.447G>A (p.Val149=)
c.8370+156205C>T (n.8370+156205C>T)
2g.108929252A>CCA348115652EDAR,RANBP2c.302T>G (p.Val101Gly)
c.353T>G (p.Val118Gly)
c.446T>G (p.Val149Gly)
c.8370+156206A>C (n.8370+156206A>C)
2g.108929252A>GCA348115650EDAR,RANBP2c.302T>C (p.Val101Ala)
c.353T>C (p.Val118Ala)
c.446T>C (p.Val149Ala)
c.8370+156206A>G (n.8370+156206A>G)
2g.108929252A>TCA348115651EDAR,RANBP2c.302T>A (p.Val101Glu)
c.353T>A (p.Val118Glu)
c.446T>A (p.Val149Glu)
c.8370+156206A>T (n.8370+156206A>T)
2g.108929253C>ACA348115653EDAR,RANBP2c.301G>T (p.Val101Leu)
c.352G>T (p.Val118Leu)
c.445G>T (p.Val149Leu)
c.8370+156207C>A (n.8370+156207C>A)
2g.108929253C=CA1278368535EDAR,RANBP2c.301G= (p.Val101=)
c.352G= (p.Val118=)
c.445G= (p.Val149=)
c.8370+156207C= (n.8370+156207C=)
2g.108929253C>GCA348115654EDAR,RANBP2c.301G>C (p.Val101Leu)
c.352G>C (p.Val118Leu)
c.445G>C (p.Val149Leu)
c.8370+156207C>G (n.8370+156207C>G)
2g.108929253C>TCA1825130EDAR,RANBP2c.301G>A (p.Val101Met)
c.352G>A (p.Val118Met)
c.445G>A (p.Val149Met)
c.8370+156207C>T (n.8370+156207C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929254G>ACA1825131EDAR,RANBP2c.300C>T (p.Thr100=)
c.351C>T (p.Thr117=)
c.444C>T (p.Thr148=)
c.8370+156208G>A (n.8370+156208G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929254G>CCA428086830EDAR,RANBP2c.300C>G (p.Thr100=)
c.351C>G (p.Thr117=)
c.444C>G (p.Thr148=)
c.8370+156208G>C (n.8370+156208G>C)
 gnomAD v4
2g.108929254G=CA1278368536EDAR,RANBP2c.300C= (p.Thr100=)
c.351C= (p.Thr117=)
c.444C= (p.Thr148=)
c.8370+156208G= (n.8370+156208G=)
2g.108929254G>TCA428086831EDAR,RANBP2c.300C>A (p.Thr100=)
c.351C>A (p.Thr117=)
c.444C>A (p.Thr148=)
c.8370+156208G>T (n.8370+156208G>T)
2g.108929255G>ACA1825132EDAR,RANBP2c.299C>T (p.Thr100Ile)
c.350C>T (p.Thr117Ile)
c.443C>T (p.Thr148Ile)
c.8370+156209G>A (n.8370+156209G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929255G>CCA348115655EDAR,RANBP2c.299C>G (p.Thr100Ser)
c.350C>G (p.Thr117Ser)
c.443C>G (p.Thr148Ser)
c.8370+156209G>C (n.8370+156209G>C)
2g.108929255G=CA1278368537EDAR,RANBP2c.299C= (p.Thr100=)
c.350C= (p.Thr117=)
c.443C= (p.Thr148=)
c.8370+156209G= (n.8370+156209G=)
2g.108929255G>TCA348115656EDAR,RANBP2c.299C>A (p.Thr100Asn)
c.350C>A (p.Thr117Asn)
c.443C>A (p.Thr148Asn)
c.8370+156209G>T (n.8370+156209G>T)
2g.108929256T>ACA348115657EDAR,RANBP2c.298A>T (p.Thr100Ser)
c.349A>T (p.Thr117Ser)
c.442A>T (p.Thr148Ser)
c.8370+156210T>A (n.8370+156210T>A)
2g.108929256T>CCA348115658EDAR,RANBP2c.298A>G (p.Thr100Ala)
c.349A>G (p.Thr117Ala)
c.442A>G (p.Thr148Ala)
c.8370+156210T>C (n.8370+156210T>C)
 gnomAD v4
2g.108929256T>GCA348115659EDAR,RANBP2c.298A>C (p.Thr100Pro)
c.349A>C (p.Thr117Pro)
c.442A>C (p.Thr148Pro)
c.8370+156210T>G (n.8370+156210T>G)
2g.108929257G>ACA1825133EDAR,RANBP2c.297C>T (p.Ala99=)
c.348C>T (p.Ala116=)
c.441C>T (p.Ala147=)
c.8370+156211G>A (n.8370+156211G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929257G>CCA428086832EDAR,RANBP2c.297C>G (p.Ala99=)
c.348C>G (p.Ala116=)
c.441C>G (p.Ala147=)
c.8370+156211G>C (n.8370+156211G>C)
2g.108929257G=CA1278368538EDAR,RANBP2c.297C= (p.Ala99=)
c.348C= (p.Ala116=)
c.441C= (p.Ala147=)
c.8370+156211G= (n.8370+156211G=)
2g.108929257G>TCA428086833EDAR,RANBP2c.297C>A (p.Ala99=)
c.348C>A (p.Ala116=)
c.441C>A (p.Ala147=)
c.8370+156211G>T (n.8370+156211G>T)
2g.108929258G>ACA348115662EDAR,RANBP2c.296C>T (p.Ala99Val)
c.347C>T (p.Ala116Val)
c.440C>T (p.Ala147Val)
c.8370+156212G>A (n.8370+156212G>A)
2g.108929258G>CCA348115661EDAR,RANBP2c.296C>G (p.Ala99Gly)
c.347C>G (p.Ala116Gly)
c.440C>G (p.Ala147Gly)
c.8370+156212G>C (n.8370+156212G>C)
2g.108929258G>TCA348115660EDAR,RANBP2c.296C>A (p.Ala99Asp)
c.347C>A (p.Ala116Asp)
c.440C>A (p.Ala147Asp)
c.8370+156212G>T (n.8370+156212G>T)
2g.108929259C>ACA348115663EDAR,RANBP2c.295G>T (p.Ala99Ser)
c.346G>T (p.Ala116Ser)
c.439G>T (p.Ala147Ser)
c.8370+156213C>A (n.8370+156213C>A)
2g.108929259C=CA1278368539EDAR,RANBP2c.295G= (p.Ala99=)
c.346G= (p.Ala116=)
c.439G= (p.Ala147=)
c.8370+156213C= (n.8370+156213C=)
2g.108929259C>GCA348115664EDAR,RANBP2c.295G>C (p.Ala99Pro)
c.346G>C (p.Ala116Pro)
c.439G>C (p.Ala147Pro)
c.8370+156213C>G (n.8370+156213C>G)
2g.108929259C>TCA1825134EDAR,RANBP2c.295G>A (p.Ala99Thr)
c.346G>A (p.Ala116Thr)
c.439G>A (p.Ala147Thr)
c.8370+156213C>T (n.8370+156213C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929260C>ACA428086834EDAR,RANBP2c.294G>T (p.Arg98=)
c.345G>T (p.Arg115=)
c.438G>T (p.Arg146=)
c.8370+156214C>A (n.8370+156214C>A)
2g.108929260C=CA1278368540EDAR,RANBP2c.294G= (p.Arg98=)
c.345G= (p.Arg115=)
c.438G= (p.Arg146=)
c.8370+156214C= (n.8370+156214C=)
2g.108929260C>GCA428086835EDAR,RANBP2c.294G>C (p.Arg98=)
c.345G>C (p.Arg115=)
c.438G>C (p.Arg146=)
c.8370+156214C>G (n.8370+156214C>G)
2g.108929260C>TCA428086836EDAR,RANBP2c.294G>A (p.Arg98=)
c.345G>A (p.Arg115=)
c.438G>A (p.Arg146=)
c.8370+156214C>T (n.8370+156214C>T)
 dbSNP
2g.108929261C>ACA348115665EDAR,RANBP2c.293G>T (p.Arg98Leu)
c.344G>T (p.Arg115Leu)
c.437G>T (p.Arg146Leu)
c.8370+156215C>A (n.8370+156215C>A)
2g.108929261C=CA1278368541EDAR,RANBP2c.293G= (p.Arg98=)
c.344G= (p.Arg115=)
c.437G= (p.Arg146=)
c.8370+156215C= (n.8370+156215C=)
2g.108929261C>GCA1825136EDAR,RANBP2c.293G>C (p.Arg98Pro)
c.344G>C (p.Arg115Pro)
c.437G>C (p.Arg146Pro)
c.8370+156215C>G (n.8370+156215C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929261C>TCA1825135EDAR,RANBP2c.293G>A (p.Arg98Gln)
c.344G>A (p.Arg115Gln)
c.437G>A (p.Arg146Gln)
c.8370+156215C>T (n.8370+156215C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108929262G>ACA54012145EDAR,RANBP2c.292C>T (p.Arg98Trp)
c.343C>T (p.Arg115Trp)
c.436C>T (p.Arg146Trp)
c.8370+156216G>A (n.8370+156216G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929262G>CCA348115666EDAR,RANBP2c.292C>G (p.Arg98Gly)
c.343C>G (p.Arg115Gly)
c.436C>G (p.Arg146Gly)
c.8370+156216G>C (n.8370+156216G>C)
2g.108929262G=CA1278368542EDAR,RANBP2c.292C= (p.Arg98=)
c.343C= (p.Arg115=)
c.436C= (p.Arg146=)
c.8370+156216G= (n.8370+156216G=)
2g.108929262G>TCA1825137EDAR,RANBP2c.292C>A (p.Arg98=)
c.343C>A (p.Arg115=)
c.436C>A (p.Arg146=)
c.8370+156216G>T (n.8370+156216G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108929263G>ACA428086837EDAR,RANBP2c.291C>T (p.Phe97=)
c.342C>T (p.Phe114=)
c.435C>T (p.Phe145=)
c.8370+156217G>A (n.8370+156217G>A)
2g.108929263G>CCA348115667EDAR,RANBP2c.291C>G (p.Phe97Leu)
c.342C>G (p.Phe114Leu)
c.435C>G (p.Phe145Leu)
c.8370+156217G>C (n.8370+156217G>C)
2g.108929263G>TCA348115668EDAR,RANBP2c.291C>A (p.Phe97Leu)
c.342C>A (p.Phe114Leu)
c.435C>A (p.Phe145Leu)
c.8370+156217G>T (n.8370+156217G>T)
2g.108929264A>CCA348115669EDAR,RANBP2c.290T>G (p.Phe97Cys)
c.341T>G (p.Phe114Cys)
c.434T>G (p.Phe145Cys)
c.8370+156218A>C (n.8370+156218A>C)
2g.108929264A>GCA348115670EDAR,RANBP2c.290T>C (p.Phe97Ser)
c.341T>C (p.Phe114Ser)
c.434T>C (p.Phe145Ser)
c.8370+156218A>G (n.8370+156218A>G)
2g.108929264A>TCA348115671EDAR,RANBP2c.290T>A (p.Phe97Tyr)
c.341T>A (p.Phe114Tyr)
c.434T>A (p.Phe145Tyr)
c.8370+156218A>T (n.8370+156218A>T)
2g.108929265A=CA1278368543EDAR,RANBP2c.289T= (p.Phe97=)
c.340T= (p.Phe114=)
c.433T= (p.Phe145=)
c.8370+156219A= (n.8370+156219A=)
2g.108929265A>CCA348115672EDAR,RANBP2c.289T>G (p.Phe97Val)
c.340T>G (p.Phe114Val)
c.433T>G (p.Phe145Val)
c.8370+156219A>C (n.8370+156219A>C)
2g.108929265A>GCA348115673EDAR,RANBP2c.289T>C (p.Phe97Leu)
c.340T>C (p.Phe114Leu)
c.433T>C (p.Phe145Leu)
c.8370+156219A>G (n.8370+156219A>G)
 dbSNP gnomAD v4
2g.108929265A>TCA348115674EDAR,RANBP2c.289T>A (p.Phe97Ile)
c.340T>A (p.Phe114Ile)
c.433T>A (p.Phe145Ile)
c.8370+156219A>T (n.8370+156219A>T)
2g.108929266G>ACA428086838EDAR,RANBP2c.288C>T (p.Phe96=)
c.339C>T (p.Phe113=)
c.432C>T (p.Phe144=)
c.8370+156220G>A (n.8370+156220G>A)
 COSMIC COSMIC
2g.108929266G>CCA348115676EDAR,RANBP2c.288C>G (p.Phe96Leu)
c.339C>G (p.Phe113Leu)
c.432C>G (p.Phe144Leu)
c.8370+156220G>C (n.8370+156220G>C)
2g.108929266G>TCA348115675EDAR,RANBP2c.288C>A (p.Phe96Leu)
c.339C>A (p.Phe113Leu)
c.432C>A (p.Phe144Leu)
c.8370+156220G>T (n.8370+156220G>T)
2g.108929267A=CA1278368544EDAR,RANBP2c.287T= (p.Phe96=)
c.338T= (p.Phe113=)
c.431T= (p.Phe144=)
c.8370+156221A= (n.8370+156221A=)
2g.108929267A>CCA348115677EDAR,RANBP2c.287T>G (p.Phe96Cys)
c.338T>G (p.Phe113Cys)
c.431T>G (p.Phe144Cys)
c.8370+156221A>C (n.8370+156221A>C)
2g.108929267A>GCA348115678EDAR,RANBP2c.287T>C (p.Phe96Ser)
c.338T>C (p.Phe113Ser)
c.431T>C (p.Phe144Ser)
c.8370+156221A>G (n.8370+156221A>G)
 ClinVar dbSNP
2g.108929267A>TCA348115679EDAR,RANBP2c.287T>A (p.Phe96Tyr)
c.338T>A (p.Phe113Tyr)
c.431T>A (p.Phe144Tyr)
c.8370+156221A>T (n.8370+156221A>T)
2g.108929268A>CCA348115680EDAR,RANBP2c.286T>G (p.Phe96Val)
c.337T>G (p.Phe113Val)
c.430T>G (p.Phe144Val)
c.8370+156222A>C (n.8370+156222A>C)
2g.108929268A>GCA348115681EDAR,RANBP2c.286T>C (p.Phe96Leu)
c.337T>C (p.Phe113Leu)
c.430T>C (p.Phe144Leu)
c.8370+156222A>G (n.8370+156222A>G)
 gnomAD v4
2g.108929268A>TCA348115682EDAR,RANBP2c.286T>A (p.Phe96Ile)
c.337T>A (p.Phe113Ile)
c.430T>A (p.Phe144Ile)
c.8370+156222A>T (n.8370+156222A>T)
2g.108929269G>ACA428086839EDAR,RANBP2c.285C>T (p.Gly95=)
c.336C>T (p.Gly112=)
c.429C>T (p.Gly143=)
c.8370+156223G>A (n.8370+156223G>A)
2g.108929269G>CCA428086840EDAR,RANBP2c.285C>G (p.Gly95=)
c.336C>G (p.Gly112=)
c.429C>G (p.Gly143=)
c.8370+156223G>C (n.8370+156223G>C)
2g.108929269G>TCA428086841EDAR,RANBP2c.285C>A (p.Gly95=)
c.336C>A (p.Gly112=)
c.429C>A (p.Gly143=)
c.8370+156223G>T (n.8370+156223G>T)
2g.108929269_108929270delinsGCCA1278368545EDAR,RANBP2c.284_285delinsGC (p.Gly95=)
c.335_336delinsGC (p.Gly112=)
c.428_429delinsGC (p.Gly143=)
c.8370+156223_8370+156224delinsGC (n.8370+156223_8370+156224delinsGC)
2g.108929270C>ACA348115683EDAR,RANBP2c.284G>T (p.Gly95Val)
c.335G>T (p.Gly112Val)
c.428G>T (p.Gly143Val)
c.8370+156224C>A (n.8370+156224C>A)
 dbSNP gnomAD v4
2g.108929270C=CA1278368546EDAR,RANBP2c.284G= (p.Gly95=)
c.335G= (p.Gly112=)
c.428G= (p.Gly143=)
c.8370+156224C= (n.8370+156224C=)
2g.108929270C>GCA348115684EDAR,RANBP2c.284G>C (p.Gly95Ala)
c.335G>C (p.Gly112Ala)
c.428G>C (p.Gly143Ala)
c.8370+156224C>G (n.8370+156224C>G)
2g.108929270C>TCA348115685EDAR,RANBP2c.284G>A (p.Gly95Asp)
c.335G>A (p.Gly112Asp)
c.428G>A (p.Gly143Asp)
c.8370+156224C>T (n.8370+156224C>T)
 gnomAD v4
2g.108929272delCA16616897EDAR,RANBP2c.284del (p.Gly95AlafsTer8)
c.335del (p.Gly112AlafsTer8)
c.428del (p.Gly143AlafsTer8)
c.8370+156226del (n.8370+156226del)
 ClinVar dbSNP
2g.108929271C>ACA348115686EDAR,RANBP2c.283G>T (p.Gly95Cys)
c.334G>T (p.Gly112Cys)
c.427G>T (p.Gly143Cys)
c.8370+156225C>A (n.8370+156225C>A)
2g.108929271C=CA1278368547EDAR,RANBP2c.283G= (p.Gly95=)
c.334G= (p.Gly112=)
c.427G= (p.Gly143=)
c.8370+156225C= (n.8370+156225C=)
2g.108929271C>GCA348115687EDAR,RANBP2c.283G>C (p.Gly95Arg)
c.334G>C (p.Gly112Arg)
c.427G>C (p.Gly143Arg)
c.8370+156225C>G (n.8370+156225C>G)
 gnomAD v4
2g.108929271C>TCA1825138EDAR,RANBP2c.283G>A (p.Gly95Ser)
c.334G>A (p.Gly112Ser)
c.427G>A (p.Gly143Ser)
c.8370+156225C>T (n.8370+156225C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929272C>ACA348115688EDAR,RANBP2c.282G>T (p.Glu94Asp)
c.333G>T (p.Glu111Asp)
c.426G>T (p.Glu142Asp)
c.8370+156226C>A (n.8370+156226C>A)
2g.108929272C>GCA348115689EDAR,RANBP2c.282G>C (p.Glu94Asp)
c.333G>C (p.Glu111Asp)
c.426G>C (p.Glu142Asp)
c.8370+156226C>G (n.8370+156226C>G)
2g.108929272C>TCA428086842EDAR,RANBP2c.282G>A (p.Glu94=)
c.333G>A (p.Glu111=)
c.426G>A (p.Glu142=)
c.8370+156226C>T (n.8370+156226C>T)
 gnomAD v4
2g.108929273T>ACA348115690EDAR,RANBP2c.281A>T (p.Glu94Val)
c.332A>T (p.Glu111Val)
c.425A>T (p.Glu142Val)
c.8370+156227T>A (n.8370+156227T>A)
2g.108929273T>CCA348115691EDAR,RANBP2c.281A>G (p.Glu94Gly)
c.332A>G (p.Glu111Gly)
c.425A>G (p.Glu142Gly)
c.8370+156227T>C (n.8370+156227T>C)
2g.108929273T>GCA348115692EDAR,RANBP2c.281A>C (p.Glu94Ala)
c.332A>C (p.Glu111Ala)
c.425A>C (p.Glu142Ala)
c.8370+156227T>G (n.8370+156227T>G)
2g.108929274C>ACA348115693EDAR,RANBP2c.280G>T (p.Glu94Ter)
c.331G>T (p.Glu111Ter)
c.424G>T (p.Glu142Ter)
c.8370+156228C>A (n.8370+156228C>A)
2g.108929274C>GCA348115694EDAR,RANBP2c.280G>C (p.Glu94Gln)
c.331G>C (p.Glu111Gln)
c.424G>C (p.Glu142Gln)
c.8370+156228C>G (n.8370+156228C>G)
2g.108929274C>TCA348115695EDAR,RANBP2c.280G>A (p.Glu94Lys)
c.331G>A (p.Glu111Lys)
c.424G>A (p.Glu142Lys)
c.8370+156228C>T (n.8370+156228C>T)
2g.108929275A=CA1278368548EDAR,RANBP2c.279T= (p.Cys93=)
c.330T= (p.Cys110=)
c.423T= (p.Cys141=)
c.8370+156229A= (n.8370+156229A=)
2g.108929275A>CCA1825139EDAR,RANBP2c.279T>G (p.Cys93Trp)
c.330T>G (p.Cys110Trp)
c.423T>G (p.Cys141Trp)
c.8370+156229A>C (n.8370+156229A>C)
 dbSNP ExAC gnomAD v4
2g.108929275A>GCA428086843EDAR,RANBP2c.279T>C (p.Cys93=)
c.330T>C (p.Cys110=)
c.423T>C (p.Cys141=)
c.8370+156229A>G (n.8370+156229A>G)
 gnomAD v4
2g.108929275A>TCA348115696EDAR,RANBP2c.279T>A (p.Cys93Ter)
c.330T>A (p.Cys110Ter)
c.423T>A (p.Cys141Ter)
c.8370+156229A>T (n.8370+156229A>T)
2g.108929276C>ACA348115697EDAR,RANBP2c.278G>T (p.Cys93Phe)
c.329G>T (p.Cys110Phe)
c.422G>T (p.Cys141Phe)
c.8370+156230C>A (n.8370+156230C>A)
2g.108929276C=CA1278368549EDAR,RANBP2c.278G= (p.Cys93=)
c.329G= (p.Cys110=)
c.422G= (p.Cys141=)
c.8370+156230C= (n.8370+156230C=)
2g.108929276C>GCA348115698EDAR,RANBP2c.278G>C (p.Cys93Ser)
c.329G>C (p.Cys110Ser)
c.422G>C (p.Cys141Ser)
c.8370+156230C>G (n.8370+156230C>G)
 ClinVar dbSNP
2g.108929276C>TCA348115699EDAR,RANBP2c.278G>A (p.Cys93Tyr)
c.329G>A (p.Cys110Tyr)
c.422G>A (p.Cys141Tyr)
c.8370+156230C>T (n.8370+156230C>T)
2g.108929277A=CA1278368550EDAR,RANBP2c.277T= (p.Cys93=)
c.328T= (p.Cys110=)
c.421T= (p.Cys141=)
c.8370+156231A= (n.8370+156231A=)
2g.108929277A>CCA348115702EDAR,RANBP2c.277T>G (p.Cys93Gly)
c.328T>G (p.Cys110Gly)
c.421T>G (p.Cys141Gly)
c.8370+156231A>C (n.8370+156231A>C)
2g.108929277A>GCA348115701EDAR,RANBP2c.277T>C (p.Cys93Arg)
c.328T>C (p.Cys110Arg)
c.421T>C (p.Cys141Arg)
c.8370+156231A>G (n.8370+156231A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.108929277A>TCA348115700EDAR,RANBP2c.277T>A (p.Cys93Ser)
c.328T>A (p.Cys110Ser)
c.421T>A (p.Cys141Ser)
c.8370+156231A>T (n.8370+156231A>T)
2g.108929278G>ACA428086844EDAR,RANBP2c.276C>T (p.Asp92=)
c.327C>T (p.Asp109=)
c.420C>T (p.Asp140=)
c.8370+156232G>A (n.8370+156232G>A)
2g.108929278G>CCA348115703EDAR,RANBP2c.276C>G (p.Asp92Glu)
c.327C>G (p.Asp109Glu)
c.420C>G (p.Asp140Glu)
c.8370+156232G>C (n.8370+156232G>C)
2g.108929278G>TCA348115704EDAR,RANBP2c.276C>A (p.Asp92Glu)
c.327C>A (p.Asp109Glu)
c.420C>A (p.Asp140Glu)
c.8370+156232G>T (n.8370+156232G>T)
2g.108929278_108929279insGCGCA2586969752EDAR,RANBP2c.276_277insGCC (p.Asp92_Cys93insAla)
c.327_328insGCC (p.Asp109_Cys110insAla)
c.420_421insGCC (p.Asp140_Cys141insAla)
c.8370+156232_8370+156233insGCG (n.8370+156232_8370+156233insGCG)
2g.108929279T>ACA348115705EDAR,RANBP2c.275A>T (p.Asp92Val)
c.326A>T (p.Asp109Val)
c.419A>T (p.Asp140Val)
c.8370+156233T>A (n.8370+156233T>A)
2g.108929279T>CCA1825140EDAR,RANBP2c.275A>G (p.Asp92Gly)
c.326A>G (p.Asp109Gly)
c.419A>G (p.Asp140Gly)
c.8370+156233T>C (n.8370+156233T>C)
 ClinVar dbSNP ExAC
2g.108929279T>GCA348115706EDAR,RANBP2c.275A>C (p.Asp92Ala)
c.326A>C (p.Asp109Ala)
c.419A>C (p.Asp140Ala)
c.8370+156233T>G (n.8370+156233T>G)
2g.108929279T=CA1278368551EDAR,RANBP2c.275A= (p.Asp92=)
c.326A= (p.Asp109=)
c.419A= (p.Asp140=)
c.8370+156233T= (n.8370+156233T=)
2g.108929280C>ACA348115707EDAR,RANBP2c.274G>T (p.Asp92Tyr)
c.325G>T (p.Asp109Tyr)
c.418G>T (p.Asp140Tyr)
c.8370+156234C>A (n.8370+156234C>A)
2g.108929280C>GCA348115708EDAR,RANBP2c.274G>C (p.Asp92His)
c.325G>C (p.Asp109His)
c.418G>C (p.Asp140His)
c.8370+156234C>G (n.8370+156234C>G)
2g.108929280C>TCA348115709EDAR,RANBP2c.274G>A (p.Asp92Asn)
c.325G>A (p.Asp109Asn)
c.418G>A (p.Asp140Asn)
c.8370+156234C>T (n.8370+156234C>T)
2g.108929281T>ACA348115710EDAR,RANBP2c.273A>T (p.Lys91Asn)
c.324A>T (p.Lys108Asn)
c.417A>T (p.Lys139Asn)
c.8370+156235T>A (n.8370+156235T>A)
2g.108929281T>CCA428086845EDAR,RANBP2c.273A>G (p.Lys91=)
c.324A>G (p.Lys108=)
c.417A>G (p.Lys139=)
c.8370+156235T>C (n.8370+156235T>C)
 dbSNP
2g.108929281T>GCA348115711EDAR,RANBP2c.273A>C (p.Lys91Asn)
c.324A>C (p.Lys108Asn)
c.417A>C (p.Lys139Asn)
c.8370+156235T>G (n.8370+156235T>G)
2g.108929281T=CA1278368552EDAR,RANBP2c.273A= (p.Lys91=)
c.324A= (p.Lys108=)
c.417A= (p.Lys139=)
c.8370+156235T= (n.8370+156235T=)
2g.108929282_108929283delCA2660611276EDAR,RANBP2c.272_273del (p.Lys91ArgfsTer3)
c.323_324del (p.Lys108ArgfsTer3)
c.416_417del (p.Lys139ArgfsTer3)
c.8370+156236_8370+156237del (n.8370+156236_8370+156237del)
 gnomAD v4
2g.108929282T>ACA348115712EDAR,RANBP2c.272A>T (p.Lys91Ile)
c.323A>T (p.Lys108Ile)
c.416A>T (p.Lys139Ile)
c.8370+156236T>A (n.8370+156236T>A)
2g.108929282T>CCA348115713EDAR,RANBP2c.272A>G (p.Lys91Arg)
c.323A>G (p.Lys108Arg)
c.416A>G (p.Lys139Arg)
c.8370+156236T>C (n.8370+156236T>C)
 gnomAD v4
2g.108929282T>GCA348115714EDAR,RANBP2c.272A>C (p.Lys91Thr)
c.323A>C (p.Lys108Thr)
c.416A>C (p.Lys139Thr)
c.8370+156236T>G (n.8370+156236T>G)
2g.108929283T>ACA348115716EDAR,RANBP2c.271A>T (p.Lys91Ter)
c.322A>T (p.Lys108Ter)
c.415A>T (p.Lys139Ter)
c.8370+156237T>A (n.8370+156237T>A)
2g.108929283T>CCA348115717EDAR,RANBP2c.271A>G (p.Lys91Glu)
c.322A>G (p.Lys108Glu)
c.415A>G (p.Lys139Glu)
c.8370+156237T>C (n.8370+156237T>C)
2g.108929283T>GCA348115715EDAR,RANBP2c.271A>C (p.Lys91Gln)
c.322A>C (p.Lys108Gln)
c.415A>C (p.Lys139Gln)
c.8370+156237T>G (n.8370+156237T>G)
2g.108929284G>ACA428086846EDAR,RANBP2c.270C>T (p.His90=)
c.321C>T (p.His107=)
c.414C>T (p.His138=)
c.8370+156238G>A (n.8370+156238G>A)
2g.108929284G>CCA348115718EDAR,RANBP2c.270C>G (p.His90Gln)
c.321C>G (p.His107Gln)
c.414C>G (p.His138Gln)
c.8370+156238G>C (n.8370+156238G>C)
2g.108929284G>TCA348115719EDAR,RANBP2c.270C>A (p.His90Gln)
c.321C>A (p.His107Gln)
c.414C>A (p.His138Gln)
c.8370+156238G>T (n.8370+156238G>T)
2g.108929285T>ACA348115720EDAR,RANBP2c.269A>T (p.His90Leu)
c.320A>T (p.His107Leu)
c.413A>T (p.His138Leu)
c.8370+156239T>A (n.8370+156239T>A)
2g.108929285T>CCA348115721EDAR,RANBP2c.269A>G (p.His90Arg)
c.320A>G (p.His107Arg)
c.413A>G (p.His138Arg)
c.8370+156239T>C (n.8370+156239T>C)
2g.108929285T>GCA348115722EDAR,RANBP2c.269A>C (p.His90Pro)
c.320A>C (p.His107Pro)
c.413A>C (p.His138Pro)
c.8370+156239T>G (n.8370+156239T>G)
2g.108929286G>ACA348115723EDAR,RANBP2c.268C>T (p.His90Tyr)
c.319C>T (p.His107Tyr)
c.412C>T (p.His138Tyr)
c.8370+156240G>A (n.8370+156240G>A)
2g.108929286G>CCA348115724EDAR,RANBP2c.268C>G (p.His90Asp)
c.319C>G (p.His107Asp)
c.412C>G (p.His138Asp)
c.8370+156240G>C (n.8370+156240G>C)
2g.108929286G>TCA348115725EDAR,RANBP2c.268C>A (p.His90Asn)
c.319C>A (p.His107Asn)
c.412C>A (p.His138Asn)
c.8370+156240G>T (n.8370+156240G>T)
2g.108929287A=CA1278368553EDAR,RANBP2c.267T= (p.Arg89=)
c.318T= (p.Arg106=)
c.411T= (p.Arg137=)
c.8370+156241A= (n.8370+156241A=)
2g.108929287A>CCA428086847EDAR,RANBP2c.267T>G (p.Arg89=)
c.318T>G (p.Arg106=)
c.411T>G (p.Arg137=)
c.8370+156241A>C (n.8370+156241A>C)
2g.108929287A>GCA428086848EDAR,RANBP2c.267T>C (p.Arg89=)
c.318T>C (p.Arg106=)
c.411T>C (p.Arg137=)
c.8370+156241A>G (n.8370+156241A>G)
2g.108929287A>TCA428086849EDAR,RANBP2c.267T>A (p.Arg89=)
c.318T>A (p.Arg106=)
c.411T>A (p.Arg137=)
c.8370+156241A>T (n.8370+156241A>T)
 dbSNP gnomAD v4
2g.108929288C>ACA348115726EDAR,RANBP2c.266G>T (p.Arg89Leu)
c.317G>T (p.Arg106Leu)
c.410G>T (p.Arg137Leu)
c.8370+156242C>A (n.8370+156242C>A)
 gnomAD v4
2g.108929288C=CA1278368554EDAR,RANBP2c.266G= (p.Arg89=)
c.317G= (p.Arg106=)
c.410G= (p.Arg137=)
c.8370+156242C= (n.8370+156242C=)
2g.108929288C>GCA348115727EDAR,RANBP2c.266G>C (p.Arg89Pro)
c.317G>C (p.Arg106Pro)
c.410G>C (p.Arg137Pro)
c.8370+156242C>G (n.8370+156242C>G)
2g.108929288C>TCA130257EDAR,RANBP2c.266G>A (p.Arg89His)
c.317G>A (p.Arg106His)
c.410G>A (p.Arg137His)
c.8370+156242C>T (n.8370+156242C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929289G>ACA1825141EDAR,RANBP2c.265C>T (p.Arg89Cys)
c.316C>T (p.Arg106Cys)
c.409C>T (p.Arg137Cys)
c.8370+156243G>A (n.8370+156243G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108929289G>CCA348115728EDAR,RANBP2c.265C>G (p.Arg89Gly)
c.316C>G (p.Arg106Gly)
c.409C>G (p.Arg137Gly)
c.8370+156243G>C (n.8370+156243G>C)
2g.108929289G=CA1278368555EDAR,RANBP2c.265C= (p.Arg89=)
c.316C= (p.Arg106=)
c.409C= (p.Arg137=)
c.8370+156243G= (n.8370+156243G=)
2g.108929289G>TCA54012146EDAR,RANBP2c.265C>A (p.Arg89Ser)
c.316C>A (p.Arg106Ser)
c.409C>A (p.Arg137Ser)
c.8370+156243G>T (n.8370+156243G>T)
 dbSNP gnomAD v4
2g.108929290C>ACA348115730EDAR,RANBP2c.264G>T (p.Arg88Ser)
c.315G>T (p.Arg105Ser)
c.408G>T (p.Arg136Ser)
c.8370+156244C>A (n.8370+156244C>A)
2g.108929290C>GCA348115729EDAR,RANBP2c.264G>C (p.Arg88Ser)
c.315G>C (p.Arg105Ser)
c.408G>C (p.Arg136Ser)
c.8370+156244C>G (n.8370+156244C>G)
2g.108929290C>TCA428086850EDAR,RANBP2c.264G>A (p.Arg88=)
c.315G>A (p.Arg105=)
c.408G>A (p.Arg136=)
c.8370+156244C>T (n.8370+156244C>T)
2g.108929291C>ACA348115731EDAR,RANBP2c.263G>T (p.Arg88Met)
c.314G>T (p.Arg105Met)
c.407G>T (p.Arg136Met)
c.8370+156245C>A (n.8370+156245C>A)
2g.108929291C>GCA348115732EDAR,RANBP2c.263G>C (p.Arg88Thr)
c.314G>C (p.Arg105Thr)
c.407G>C (p.Arg136Thr)
c.8370+156245C>G (n.8370+156245C>G)
2g.108929291C>TCA348115733EDAR,RANBP2c.263G>A (p.Arg88Lys)
c.314G>A (p.Arg105Lys)
c.407G>A (p.Arg136Lys)
c.8370+156245C>T (n.8370+156245C>T)
2g.108929292T>ACA348115734EDAR,RANBP2c.262A>T (p.Arg88Trp)
c.313A>T (p.Arg105Trp)
c.406A>T (p.Arg136Trp)
c.8370+156246T>A (n.8370+156246T>A)
2g.108929292T>CCA348115735EDAR,RANBP2c.262A>G (p.Arg88Gly)
c.313A>G (p.Arg105Gly)
c.406A>G (p.Arg136Gly)
c.8370+156246T>C (n.8370+156246T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108929292T>GCA428086851EDAR,RANBP2c.262A>C (p.Arg88=)
c.313A>C (p.Arg105=)
c.406A>C (p.Arg136=)
c.8370+156246T>G (n.8370+156246T>G)
2g.108929292T=CA1278368556EDAR,RANBP2c.262A= (p.Arg88=)
c.313A= (p.Arg105=)
c.406A= (p.Arg136=)
c.8370+156246T= (n.8370+156246T=)
2g.108929293G>ACA428086852EDAR,RANBP2c.261C>T (p.Cys87=)
c.312C>T (p.Cys104=)
c.405C>T (p.Cys135=)
c.8370+156247G>A (n.8370+156247G>A)
2g.108929293G>CCA348115736EDAR,RANBP2c.261C>G (p.Cys87Trp)
c.312C>G (p.Cys104Trp)
c.405C>G (p.Cys135Trp)
c.8370+156247G>C (n.8370+156247G>C)
2g.108929293G>TCA348115737EDAR,RANBP2c.261C>A (p.Cys87Ter)
c.312C>A (p.Cys104Ter)
c.405C>A (p.Cys135Ter)
c.8370+156247G>T (n.8370+156247G>T)
2g.108929294C>ACA348115738EDAR,RANBP2c.260G>T (p.Cys87Phe)
c.311G>T (p.Cys104Phe)
c.404G>T (p.Cys135Phe)
c.8370+156248C>A (n.8370+156248C>A)
2g.108929294C>GCA348115740EDAR,RANBP2c.260G>C (p.Cys87Ser)
c.311G>C (p.Cys104Ser)
c.404G>C (p.Cys135Ser)
c.8370+156248C>G (n.8370+156248C>G)
2g.108929294C>TCA348115739EDAR,RANBP2c.260G>A (p.Cys87Tyr)
c.311G>A (p.Cys104Tyr)
c.404G>A (p.Cys135Tyr)
c.8370+156248C>T (n.8370+156248C>T)
2g.108929295A=CA1278368557EDAR,RANBP2c.259T= (p.Cys87=)
c.310T= (p.Cys104=)
c.403T= (p.Cys135=)
c.8370+156249A= (n.8370+156249A=)
2g.108929295A>CCA348115741EDAR,RANBP2c.259T>G (p.Cys87Gly)
c.310T>G (p.Cys104Gly)
c.403T>G (p.Cys135Gly)
c.8370+156249A>C (n.8370+156249A>C)
 ClinVar
2g.108929295A>GCA253629EDAR,RANBP2c.259T>C (p.Cys87Arg)
c.310T>C (p.Cys104Arg)
c.403T>C (p.Cys135Arg)
c.8370+156249A>G (n.8370+156249A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929295A>TCA348115742EDAR,RANBP2c.259T>A (p.Cys87Ser)
c.310T>A (p.Cys104Ser)
c.403T>A (p.Cys135Ser)
c.8370+156249A>T (n.8370+156249A>T)
2g.108929296T>ACA428086853EDAR,RANBP2c.258A>T (p.Ile86=)
c.309A>T (p.Ile103=)
c.402A>T (p.Ile134=)
c.8370+156250T>A (n.8370+156250T>A)
2g.108929296T>CCA348115743EDAR,RANBP2c.258A>G (p.Ile86Met)
c.309A>G (p.Ile103Met)
c.402A>G (p.Ile134Met)
c.8370+156250T>C (n.8370+156250T>C)
2g.108929296T>GCA428086854EDAR,RANBP2c.258A>C (p.Ile86=)
c.309A>C (p.Ile103=)
c.402A>C (p.Ile134=)
c.8370+156250T>G (n.8370+156250T>G)
2g.108929297A>CCA348115744EDAR,RANBP2c.257T>G (p.Ile86Arg)
c.308T>G (p.Ile103Arg)
c.401T>G (p.Ile134Arg)
c.8370+156251A>C (n.8370+156251A>C)
2g.108929297A>GCA348115746EDAR,RANBP2c.257T>C (p.Ile86Thr)
c.308T>C (p.Ile103Thr)
c.401T>C (p.Ile134Thr)
c.8370+156251A>G (n.8370+156251A>G)
2g.108929297A>TCA348115745EDAR,RANBP2c.257T>A (p.Ile86Lys)
c.308T>A (p.Ile103Lys)
c.401T>A (p.Ile134Lys)
c.8370+156251A>T (n.8370+156251A>T)
2g.108929298T>ACA348115747EDAR,RANBP2c.256A>T (p.Ile86Leu)
c.307A>T (p.Ile103Leu)
c.400A>T (p.Ile134Leu)
c.8370+156252T>A (n.8370+156252T>A)
2g.108929298T>CCA348115748EDAR,RANBP2c.256A>G (p.Ile86Val)
c.307A>G (p.Ile103Val)
c.400A>G (p.Ile134Val)
c.8370+156252T>C (n.8370+156252T>C)
2g.108929298T>GCA348115749EDAR,RANBP2c.256A>C (p.Ile86Leu)
c.307A>C (p.Ile103Leu)
c.400A>C (p.Ile134Leu)
c.8370+156252T>G (n.8370+156252T>G)
 gnomAD v4
2g.108929299C>ACA348115750EDAR,RANBP2c.255G>T (p.Gln85His)
c.306G>T (p.Gln102His)
c.399G>T (p.Gln133His)
c.8370+156253C>A (n.8370+156253C>A)
 gnomAD v4
2g.108929299C>GCA348115751EDAR,RANBP2c.255G>C (p.Gln85His)
c.306G>C (p.Gln102His)
c.399G>C (p.Gln133His)
c.8370+156253C>G (n.8370+156253C>G)
2g.108929299C>TCA428086855EDAR,RANBP2c.255G>A (p.Gln85=)
c.306G>A (p.Gln102=)
c.399G>A (p.Gln133=)
c.8370+156253C>T (n.8370+156253C>T)
2g.108929300T>ACA348115752EDAR,RANBP2c.254A>T (p.Gln85Leu)
c.305A>T (p.Gln102Leu)
c.398A>T (p.Gln133Leu)
c.8370+156254T>A (n.8370+156254T>A)
2g.108929300T>CCA348115753EDAR,RANBP2c.254A>G (p.Gln85Arg)
c.305A>G (p.Gln102Arg)
c.398A>G (p.Gln133Arg)
c.8370+156254T>C (n.8370+156254T>C)
2g.108929300T>GCA348115754EDAR,RANBP2c.254A>C (p.Gln85Pro)
c.305A>C (p.Gln102Pro)
c.398A>C (p.Gln133Pro)
c.8370+156254T>G (n.8370+156254T>G)
2g.108929301G>ACA348115755EDAR,RANBP2c.253C>T (p.Gln85Ter)
c.304C>T (p.Gln102Ter)
c.397C>T (p.Gln133Ter)
c.8370+156255G>A (n.8370+156255G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108929301G>CCA348115756EDAR,RANBP2c.253C>G (p.Gln85Glu)
c.304C>G (p.Gln102Glu)
c.397C>G (p.Gln133Glu)
c.8370+156255G>C (n.8370+156255G>C)
2g.108929301G=CA1278368558EDAR,RANBP2c.253C= (p.Gln85=)
c.304C= (p.Gln102=)
c.397C= (p.Gln133=)
c.8370+156255G= (n.8370+156255G=)
2g.108929301G>TCA348115757EDAR,RANBP2c.253C>A (p.Gln85Lys)
c.304C>A (p.Gln102Lys)
c.397C>A (p.Gln133Lys)
c.8370+156255G>T (n.8370+156255G>T)

Number of alleles fetched