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.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=)

Number of alleles fetched