Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108929157C>TCA2660611262EDAR,RANBP2c.356+41G>A (n.356+41G>A)
c.407+41G>A (n.407+41G>A)
c.500+41G>A (n.500+41G>A)
c.8370+156111C>T (n.8370+156111C>T)
 gnomAD v4
2g.108929158A>CCA2660611263EDAR,RANBP2c.356+40T>G (n.356+40T>G)
c.407+40T>G (n.407+40T>G)
c.500+40T>G (n.500+40T>G)
c.8370+156112A>C (n.8370+156112A>C)
 gnomAD v4
2g.108929158A>GCA2660611264EDAR,RANBP2c.356+40T>C (n.356+40T>C)
c.407+40T>C (n.407+40T>C)
c.500+40T>C (n.500+40T>C)
c.8370+156112A>G (n.8370+156112A>G)
 gnomAD v4
2g.108929158A>TCA2660611265EDAR,RANBP2c.356+40T>A (n.356+40T>A)
c.407+40T>A (n.407+40T>A)
c.500+40T>A (n.500+40T>A)
c.8370+156112A>T (n.8370+156112A>T)
 gnomAD v4
2g.108929159G>ACA754906138EDAR,RANBP2c.356+39C>T (n.356+39C>T)
c.407+39C>T (n.407+39C>T)
c.500+39C>T (n.500+39C>T)
c.8370+156113G>A (n.8370+156113G>A)
 dbSNP
2g.108929159G>CCA535597391EDAR,RANBP2c.356+39C>G (n.356+39C>G)
c.407+39C>G (n.407+39C>G)
c.500+39C>G (n.500+39C>G)
c.8370+156113G>C (n.8370+156113G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929159G=CA1278368495EDAR,RANBP2c.356+39C= (n.356+39C=)
c.407+39C= (n.407+39C=)
c.500+39C= (n.500+39C=)
c.8370+156113G= (n.8370+156113G=)
2g.108929163G>TCA2660611266EDAR,RANBP2c.356+35C>A (n.356+35C>A)
c.407+35C>A (n.407+35C>A)
c.500+35C>A (n.500+35C>A)
c.8370+156117G>T (n.8370+156117G>T)
 gnomAD v4
2g.108929165A>CCA2577065734EDAR,RANBP2c.356+33T>G (n.356+33T>G)
c.407+33T>G (n.407+33T>G)
c.500+33T>G (n.500+33T>G)
c.8370+156119A>C (n.8370+156119A>C)
2g.108929165A>TCA2660611267EDAR,RANBP2c.356+33T>A (n.356+33T>A)
c.407+33T>A (n.407+33T>A)
c.500+33T>A (n.500+33T>A)
c.8370+156119A>T (n.8370+156119A>T)
 gnomAD v4
2g.108929166T>CCA2577065735EDAR,RANBP2c.356+32A>G (n.356+32A>G)
c.407+32A>G (n.407+32A>G)
c.500+32A>G (n.500+32A>G)
c.8370+156120T>C (n.8370+156120T>C)
2g.108929167G>TCA2660611268EDAR,RANBP2c.356+31C>A (n.356+31C>A)
c.407+31C>A (n.407+31C>A)
c.500+31C>A (n.500+31C>A)
c.8370+156121G>T (n.8370+156121G>T)
 gnomAD v4
2g.108929168C>GCA646689425EDAR,RANBP2c.356+30G>C (n.356+30G>C)
c.407+30G>C (n.407+30G>C)
c.500+30G>C (n.500+30G>C)
c.8370+156122C>G (n.8370+156122C>G)
 COSMIC
2g.108929168C>TCA2660611269EDAR,RANBP2c.356+30G>A (n.356+30G>A)
c.407+30G>A (n.407+30G>A)
c.500+30G>A (n.500+30G>A)
c.8370+156122C>T (n.8370+156122C>T)
 gnomAD v4
2g.108929171G>ACA2577065736EDAR,RANBP2c.356+27C>T (n.356+27C>T)
c.407+27C>T (n.407+27C>T)
c.500+27C>T (n.500+27C>T)
c.8370+156125G>A (n.8370+156125G>A)
 gnomAD v4
2g.108929171G>CCA535597392EDAR,RANBP2c.356+27C>G (n.356+27C>G)
c.407+27C>G (n.407+27C>G)
c.500+27C>G (n.500+27C>G)
c.8370+156125G>C (n.8370+156125G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929171G=CA1278368496EDAR,RANBP2c.356+27C= (n.356+27C=)
c.407+27C= (n.407+27C=)
c.500+27C= (n.500+27C=)
c.8370+156125G= (n.8370+156125G=)
2g.108929172G>ACA2660611270EDAR,RANBP2c.356+26C>T (n.356+26C>T)
c.407+26C>T (n.407+26C>T)
c.500+26C>T (n.500+26C>T)
c.8370+156126G>A (n.8370+156126G>A)
 gnomAD v4
2g.108929172G>CCA2660611271EDAR,RANBP2c.356+26C>G (n.356+26C>G)
c.407+26C>G (n.407+26C>G)
c.500+26C>G (n.500+26C>G)
c.8370+156126G>C (n.8370+156126G>C)
 gnomAD v4
2g.108929172G=CA1278368497EDAR,RANBP2c.356+26C= (n.356+26C=)
c.407+26C= (n.407+26C=)
c.500+26C= (n.500+26C=)
c.8370+156126G= (n.8370+156126G=)
2g.108929172G>TCA535597393EDAR,RANBP2c.356+26C>A (n.356+26C>A)
c.407+26C>A (n.407+26C>A)
c.500+26C>A (n.500+26C>A)
c.8370+156126G>T (n.8370+156126G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929173G>CCA754906139EDAR,RANBP2c.356+25C>G (n.356+25C>G)
c.407+25C>G (n.407+25C>G)
c.500+25C>G (n.500+25C>G)
c.8370+156127G>C (n.8370+156127G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.108929173G=CA1278368498EDAR,RANBP2c.356+25C= (n.356+25C=)
c.407+25C= (n.407+25C=)
c.500+25C= (n.500+25C=)
c.8370+156127G= (n.8370+156127G=)
2g.108929177_108929186delCA2751633876EDAR,RANBP2c.356+12_356+21del (n.356+12_356+21del)
c.407+12_407+21del (n.407+12_407+21del)
c.500+12_500+21del (n.500+12_500+21del)
c.8370+156131_8370+156140del (n.8370+156131_8370+156140del)
2g.108929179C=CA1278368499EDAR,RANBP2c.356+19G= (n.356+19G=)
c.407+19G= (n.407+19G=)
c.500+19G= (n.500+19G=)
c.8370+156133C= (n.8370+156133C=)
2g.108929179C>GCA1825118EDAR,RANBP2c.356+19G>C (n.356+19G>C)
c.407+19G>C (n.407+19G>C)
c.500+19G>C (n.500+19G>C)
c.8370+156133C>G (n.8370+156133C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929179C>TCA1825117EDAR,RANBP2c.356+19G>A (n.356+19G>A)
c.407+19G>A (n.407+19G>A)
c.500+19G>A (n.500+19G>A)
c.8370+156133C>T (n.8370+156133C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929180A>CCA2577065737EDAR,RANBP2c.356+18T>G (n.356+18T>G)
c.407+18T>G (n.407+18T>G)
c.500+18T>G (n.500+18T>G)
c.8370+156134A>C (n.8370+156134A>C)
2g.108929181G>ACA1034848650EDAR,RANBP2c.356+17C>T (n.356+17C>T)
c.407+17C>T (n.407+17C>T)
c.500+17C>T (n.500+17C>T)
c.8370+156135G>A (n.8370+156135G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108929181G=CA1278368500EDAR,RANBP2c.356+17C= (n.356+17C=)
c.407+17C= (n.407+17C=)
c.500+17C= (n.500+17C=)
c.8370+156135G= (n.8370+156135G=)
2g.108929181G>TCA1825119EDAR,RANBP2c.356+17C>A (n.356+17C>A)
c.407+17C>A (n.407+17C>A)
c.500+17C>A (n.500+17C>A)
c.8370+156135G>T (n.8370+156135G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929184G>ACA2577065738EDAR,RANBP2c.356+14C>T (n.356+14C>T)
c.407+14C>T (n.407+14C>T)
c.500+14C>T (n.500+14C>T)
c.8370+156138G>A (n.8370+156138G>A)
2g.108929186G>ACA2660611272EDAR,RANBP2c.356+12C>T (n.356+12C>T)
c.407+12C>T (n.407+12C>T)
c.500+12C>T (n.500+12C>T)
c.8370+156140G>A (n.8370+156140G>A)
 gnomAD v4
2g.108929186G>CCA646689429EDAR,RANBP2c.356+12C>G (n.356+12C>G)
c.407+12C>G (n.407+12C>G)
c.500+12C>G (n.500+12C>G)
c.8370+156140G>C (n.8370+156140G>C)
 COSMIC
2g.108929186G>TCA2660611273EDAR,RANBP2c.356+12C>A (n.356+12C>A)
c.407+12C>A (n.407+12C>A)
c.500+12C>A (n.500+12C>A)
c.8370+156140G>T (n.8370+156140G>T)
 gnomAD v4
2g.108929187C=CA1278368501EDAR,RANBP2c.356+11G= (n.356+11G=)
c.407+11G= (n.407+11G=)
c.500+11G= (n.500+11G=)
c.8370+156141C= (n.8370+156141C=)
2g.108929187C>TCA1825120EDAR,RANBP2c.356+11G>A (n.356+11G>A)
c.407+11G>A (n.407+11G>A)
c.500+11G>A (n.500+11G>A)
c.8370+156141C>T (n.8370+156141C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929189T>GCA754906141EDAR,RANBP2c.356+9A>C (n.356+9A>C)
c.407+9A>C (n.407+9A>C)
c.500+9A>C (n.500+9A>C)
c.8370+156143T>G (n.8370+156143T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.108929189T=CA1278368502EDAR,RANBP2c.356+9A= (n.356+9A=)
c.407+9A= (n.407+9A=)
c.500+9A= (n.500+9A=)
c.8370+156143T= (n.8370+156143T=)
2g.108929190G>ACA1278368504EDAR,RANBP2c.356+8C>T (n.356+8C>T)
c.407+8C>T (n.407+8C>T)
c.500+8C>T (n.500+8C>T)
c.8370+156144G>A (n.8370+156144G>A)
 dbSNP gnomAD v4
2g.108929190G=CA1278368503EDAR,RANBP2c.356+8C= (n.356+8C=)
c.407+8C= (n.407+8C=)
c.500+8C= (n.500+8C=)
c.8370+156144G= (n.8370+156144G=)
2g.108929190G>TCA2577065739EDAR,RANBP2c.356+8C>A (n.356+8C>A)
c.407+8C>A (n.407+8C>A)
c.500+8C>A (n.500+8C>A)
c.8370+156144G>T (n.8370+156144G>T)
2g.108929191T>CCA535597394EDAR,RANBP2c.356+7A>G (n.356+7A>G)
c.407+7A>G (n.407+7A>G)
c.500+7A>G (n.500+7A>G)
c.8370+156145T>C (n.8370+156145T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929191T=CA1278368505EDAR,RANBP2c.356+7A= (n.356+7A=)
c.407+7A= (n.407+7A=)
c.500+7A= (n.500+7A=)
c.8370+156145T= (n.8370+156145T=)
2g.108929192G>ACA2660611274EDAR,RANBP2c.356+6C>T (n.356+6C>T)
c.407+6C>T (n.407+6C>T)
c.500+6C>T (n.500+6C>T)
c.8370+156146G>A (n.8370+156146G>A)
 gnomAD v4
2g.108929196A=CA1278368506EDAR,RANBP2c.356+2T= (n.356+2T=)
c.407+2T= (n.407+2T=)
c.500+2T= (n.500+2T=)
c.8370+156150A= (n.8370+156150A=)
2g.108929196A>CCA348115528EDAR,RANBP2c.356+2T>G (n.356+2T>G)
c.407+2T>G (n.407+2T>G)
c.500+2T>G (n.500+2T>G)
c.8370+156150A>C (n.8370+156150A>C)
 dbSNP gnomAD v4
2g.108929196A>GCA348115529EDAR,RANBP2c.356+2T>C (n.356+2T>C)
c.407+2T>C (n.407+2T>C)
c.500+2T>C (n.500+2T>C)
c.8370+156150A>G (n.8370+156150A>G)
2g.108929196A>TCA348115530EDAR,RANBP2c.356+2T>A (n.356+2T>A)
c.407+2T>A (n.407+2T>A)
c.500+2T>A (n.500+2T>A)
c.8370+156150A>T (n.8370+156150A>T)
2g.108929197C>ACA348115531EDAR,RANBP2c.356+1G>T (n.356+1G>T)
c.407+1G>T (n.407+1G>T)
c.500+1G>T (n.500+1G>T)
c.8370+156151C>A (n.8370+156151C>A)
2g.108929197C=CA1278368507EDAR,RANBP2c.356+1G= (n.356+1G=)
c.407+1G= (n.407+1G=)
c.500+1G= (n.500+1G=)
c.8370+156151C= (n.8370+156151C=)
2g.108929197C>GCA348115532EDAR,RANBP2c.356+1G>C (n.356+1G>C)
c.407+1G>C (n.407+1G>C)
c.500+1G>C (n.500+1G>C)
c.8370+156151C>G (n.8370+156151C>G)
2g.108929197C>TCA348115533EDAR,RANBP2c.356+1G>A (n.356+1G>A)
c.407+1G>A (n.407+1G>A)
c.500+1G>A (n.500+1G>A)
c.8370+156151C>T (n.8370+156151C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929198C>ACA348115536EDAR,RANBP2c.356G>T (p.Gly119Val)
c.407G>T (p.Gly136Val)
c.500G>T (p.Gly167Val)
c.8370+156152C>A (n.8370+156152C>A)
2g.108929198C>GCA348115535EDAR,RANBP2c.356G>C (p.Gly119Ala)
c.407G>C (p.Gly136Ala)
c.500G>C (p.Gly167Ala)
c.8370+156152C>G (n.8370+156152C>G)
2g.108929198C>TCA348115534EDAR,RANBP2c.356G>A (p.Gly119Asp)
c.407G>A (p.Gly136Asp)
c.500G>A (p.Gly167Asp)
c.8370+156152C>T (n.8370+156152C>T)
 gnomAD v4
2g.108929199_108929380delCA2586969751EDAR,RANBP2c.175_356del
c.226_407del
c.319_500del
c.8370+156153_8370+156334del (n.8370+156153_8370+156334del)
2g.108929199C>ACA348115537EDAR,RANBP2c.355G>T (p.Gly119Cys)
c.406G>T (p.Gly136Cys)
c.499G>T (p.Gly167Cys)
c.8370+156153C>A (n.8370+156153C>A)
2g.108929199C>GCA348115538EDAR,RANBP2c.355G>C (p.Gly119Arg)
c.406G>C (p.Gly136Arg)
c.499G>C (p.Gly167Arg)
c.8370+156153C>G (n.8370+156153C>G)
2g.108929199C>TCA348115539EDAR,RANBP2c.355G>A (p.Gly119Ser)
c.406G>A (p.Gly136Ser)
c.499G>A (p.Gly167Ser)
c.8370+156153C>T (n.8370+156153C>T)
2g.108929200A=CA1278368508EDAR,RANBP2c.354T= (p.Pro118=)
c.405T= (p.Pro135=)
c.498T= (p.Pro166=)
c.8370+156154A= (n.8370+156154A=)
2g.108929200A>CCA428086792EDAR,RANBP2c.354T>G (p.Pro118=)
c.405T>G (p.Pro135=)
c.498T>G (p.Pro166=)
c.8370+156154A>C (n.8370+156154A>C)
2g.108929200A>GCA428086794EDAR,RANBP2c.354T>C (p.Pro118=)
c.405T>C (p.Pro135=)
c.498T>C (p.Pro166=)
c.8370+156154A>G (n.8370+156154A>G)
2g.108929200A>TCA428086795EDAR,RANBP2c.354T>A (p.Pro118=)
c.405T>A (p.Pro135=)
c.498T>A (p.Pro166=)
c.8370+156154A>T (n.8370+156154A>T)
 dbSNP
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)

Number of alleles fetched