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.108929358_108929364delCA2660611278EDAR,RANBP2c.192_198del (p.Lys65ArgfsTer?)
c.243_249del (p.Lys82ArgfsTer?)
c.336_342del (p.Lys113ArgfsTer?)
c.8370+156312_8370+156318del (n.8370+156312_8370+156318del)
 gnomAD v4
2g.108929357T>ACA348115877EDAR,RANBP2c.197A>T (p.Asp66Val)
c.248A>T (p.Asp83Val)
c.341A>T (p.Asp114Val)
c.8370+156311T>A (n.8370+156311T>A)
 gnomAD v4
2g.108929357T>CCA348115878EDAR,RANBP2c.197A>G (p.Asp66Gly)
c.248A>G (p.Asp83Gly)
c.341A>G (p.Asp114Gly)
c.8370+156311T>C (n.8370+156311T>C)
 gnomAD v4
2g.108929357T>GCA348115879EDAR,RANBP2c.197A>C (p.Asp66Ala)
c.248A>C (p.Asp83Ala)
c.341A>C (p.Asp114Ala)
c.8370+156311T>G (n.8370+156311T>G)
2g.108929357T=CA1278368596EDAR,RANBP2c.197A= (p.Asp66=)
c.248A= (p.Asp83=)
c.341A= (p.Asp114=)
c.8370+156311T= (n.8370+156311T=)
2g.108929358C>ACA348115880EDAR,RANBP2c.196G>T (p.Asp66Tyr)
c.247G>T (p.Asp83Tyr)
c.340G>T (p.Asp114Tyr)
c.8370+156312C>A (n.8370+156312C>A)
2g.108929358C>GCA348115881EDAR,RANBP2c.196G>C (p.Asp66His)
c.247G>C (p.Asp83His)
c.340G>C (p.Asp114His)
c.8370+156312C>G (n.8370+156312C>G)
2g.108929358C>TCA348115882EDAR,RANBP2c.196G>A (p.Asp66Asn)
c.247G>A (p.Asp83Asn)
c.340G>A (p.Asp114Asn)
c.8370+156312C>T (n.8370+156312C>T)
2g.108929358dupCA1825155EDAR,RANBP2c.196dup (p.Asp66GlyfsTer29)
c.247dup (p.Asp83GlyfsTer29)
c.340dup (p.Asp114GlyfsTer29)
c.8370+156312dup (n.8370+156312dup)
 dbSNP ExAC
2g.108929359T>ACA348115883EDAR,RANBP2c.195A>T (p.Lys65Asn)
c.246A>T (p.Lys82Asn)
c.339A>T (p.Lys113Asn)
c.8370+156313T>A (n.8370+156313T>A)
2g.108929359T>CCA428086898EDAR,RANBP2c.195A>G (p.Lys65=)
c.246A>G (p.Lys82=)
c.339A>G (p.Lys113=)
c.8370+156313T>C (n.8370+156313T>C)
2g.108929359T>GCA348115884EDAR,RANBP2c.195A>C (p.Lys65Asn)
c.246A>C (p.Lys82Asn)
c.339A>C (p.Lys113Asn)
c.8370+156313T>G (n.8370+156313T>G)
2g.108929359T=CA1278368597EDAR,RANBP2c.195A= (p.Lys65=)
c.246A= (p.Lys82=)
c.339A= (p.Lys113=)
c.8370+156313T= (n.8370+156313T=)
2g.108929360T>ACA348115885EDAR,RANBP2c.194A>T (p.Lys65Ile)
c.245A>T (p.Lys82Ile)
c.338A>T (p.Lys113Ile)
c.8370+156314T>A (n.8370+156314T>A)
2g.108929360T>CCA348115887EDAR,RANBP2c.194A>G (p.Lys65Arg)
c.245A>G (p.Lys82Arg)
c.338A>G (p.Lys113Arg)
c.8370+156314T>C (n.8370+156314T>C)
2g.108929360T>GCA348115886EDAR,RANBP2c.194A>C (p.Lys65Thr)
c.245A>C (p.Lys82Thr)
c.338A>C (p.Lys113Thr)
c.8370+156314T>G (n.8370+156314T>G)
2g.108929360_108929361insAGCAAGCTACCATCA1825156EDAR,RANBP2c.194_195insTGGTAGCTTGCTA (p.Lys65AsnfsTer34)
c.245_246insTGGTAGCTTGCTA (p.Lys82AsnfsTer34)
c.338_339insTGGTAGCTTGCTA (p.Lys113AsnfsTer34)
c.8370+156314_8370+156315insAGCAAGCTACCAT (n.8370+156314_8370+156315insAGCAAGCTACCAT)
 dbSNP ExAC
2g.108929361T>ACA348115889EDAR,RANBP2c.193A>T (p.Lys65Ter)
c.244A>T (p.Lys82Ter)
c.337A>T (p.Lys113Ter)
c.8370+156315T>A (n.8370+156315T>A)
2g.108929361T>CCA348115888EDAR,RANBP2c.193A>G (p.Lys65Glu)
c.244A>G (p.Lys82Glu)
c.337A>G (p.Lys113Glu)
c.8370+156315T>C (n.8370+156315T>C)
2g.108929361T>GCA348115890EDAR,RANBP2c.193A>C (p.Lys65Gln)
c.244A>C (p.Lys82Gln)
c.337A>C (p.Lys113Gln)
c.8370+156315T>G (n.8370+156315T>G)
2g.108929362G>ACA428086900EDAR,RANBP2c.192C>T (p.Thr64=)
c.243C>T (p.Thr81=)
c.336C>T (p.Thr112=)
c.8370+156316G>A (n.8370+156316G>A)
2g.108929362G>CCA428086901EDAR,RANBP2c.192C>G (p.Thr64=)
c.243C>G (p.Thr81=)
c.336C>G (p.Thr112=)
c.8370+156316G>C (n.8370+156316G>C)
2g.108929362G>TCA428086902EDAR,RANBP2c.192C>A (p.Thr64=)
c.243C>A (p.Thr81=)
c.336C>A (p.Thr112=)
c.8370+156316G>T (n.8370+156316G>T)
2g.108929363G>ACA1825157EDAR,RANBP2c.191C>T (p.Thr64Ile)
c.242C>T (p.Thr81Ile)
c.335C>T (p.Thr112Ile)
c.8370+156317G>A (n.8370+156317G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929363G>CCA348115891EDAR,RANBP2c.191C>G (p.Thr64Ser)
c.242C>G (p.Thr81Ser)
c.335C>G (p.Thr112Ser)
c.8370+156317G>C (n.8370+156317G>C)
2g.108929363G=CA1278368598EDAR,RANBP2c.191C= (p.Thr64=)
c.242C= (p.Thr81=)
c.335C= (p.Thr112=)
c.8370+156317G= (n.8370+156317G=)
2g.108929363G>TCA348115892EDAR,RANBP2c.191C>A (p.Thr64Asn)
c.242C>A (p.Thr81Asn)
c.335C>A (p.Thr112Asn)
c.8370+156317G>T (n.8370+156317G>T)
2g.108929364T>ACA348115893EDAR,RANBP2c.190A>T (p.Thr64Ser)
c.241A>T (p.Thr81Ser)
c.334A>T (p.Thr112Ser)
c.8370+156318T>A (n.8370+156318T>A)
2g.108929364T>CCA348115894EDAR,RANBP2c.190A>G (p.Thr64Ala)
c.241A>G (p.Thr81Ala)
c.334A>G (p.Thr112Ala)
c.8370+156318T>C (n.8370+156318T>C)
2g.108929364T>GCA348115895EDAR,RANBP2c.190A>C (p.Thr64Pro)
c.241A>C (p.Thr81Pro)
c.334A>C (p.Thr112Pro)
c.8370+156318T>G (n.8370+156318T>G)
 gnomAD v4
2g.108929364_108929365insCATGAAAACCAACTAATCA1825158EDAR,RANBP2c.190_191insTTAGTTGGTTTTCATGA (p.Thr64IlefsTer6)
c.241_242insTTAGTTGGTTTTCATGA (p.Thr81IlefsTer6)
c.334_335insTTAGTTGGTTTTCATGA (p.Thr112IlefsTer6)
c.8370+156318_8370+156319insCATGAAAACCAACTAAT (n.8370+156318_8370+156319insCATGAAAACCAACTAAT)
 dbSNP ExAC
2g.108929365G>ACA428086905EDAR,RANBP2c.189C>T (p.Gly63=)
c.240C>T (p.Gly80=)
c.333C>T (p.Gly111=)
c.8370+156319G>A (n.8370+156319G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929365G>CCA428086906EDAR,RANBP2c.189C>G (p.Gly63=)
c.240C>G (p.Gly80=)
c.333C>G (p.Gly111=)
c.8370+156319G>C (n.8370+156319G>C)
2g.108929365G=CA1278368599EDAR,RANBP2c.189C= (p.Gly63=)
c.240C= (p.Gly80=)
c.333C= (p.Gly111=)
c.8370+156319G= (n.8370+156319G=)
2g.108929365G>TCA428086904EDAR,RANBP2c.189C>A (p.Gly63=)
c.240C>A (p.Gly80=)
c.333C>A (p.Gly111=)
c.8370+156319G>T (n.8370+156319G>T)
2g.108929366C>ACA348115896EDAR,RANBP2c.188G>T (p.Gly63Val)
c.239G>T (p.Gly80Val)
c.332G>T (p.Gly111Val)
c.8370+156320C>A (n.8370+156320C>A)
2g.108929366C>GCA348115897EDAR,RANBP2c.188G>C (p.Gly63Ala)
c.239G>C (p.Gly80Ala)
c.332G>C (p.Gly111Ala)
c.8370+156320C>G (n.8370+156320C>G)
2g.108929366C>TCA348115898EDAR,RANBP2c.188G>A (p.Gly63Asp)
c.239G>A (p.Gly80Asp)
c.332G>A (p.Gly111Asp)
c.8370+156320C>T (n.8370+156320C>T)
 gnomAD v4
2g.108929367C>ACA348115899EDAR,RANBP2c.187G>T (p.Gly63Cys)
c.238G>T (p.Gly80Cys)
c.331G>T (p.Gly111Cys)
c.8370+156321C>A (n.8370+156321C>A)
2g.108929367C=CA1278368600EDAR,RANBP2c.187G= (p.Gly63=)
c.238G= (p.Gly80=)
c.331G= (p.Gly111=)
c.8370+156321C= (n.8370+156321C=)
2g.108929367C>GCA348115900EDAR,RANBP2c.187G>C (p.Gly63Arg)
c.238G>C (p.Gly80Arg)
c.331G>C (p.Gly111Arg)
c.8370+156321C>G (n.8370+156321C>G)
2g.108929367C>TCA1825159EDAR,RANBP2c.187G>A (p.Gly63Ser)
c.238G>A (p.Gly80Ser)
c.331G>A (p.Gly111Ser)
c.8370+156321C>T (n.8370+156321C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108929368G>ACA10610948EDAR,RANBP2c.186C>T (p.Tyr62=)
c.237C>T (p.Tyr79=)
c.330C>T (p.Tyr110=)
c.8370+156322G>A (n.8370+156322G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929368G>CCA348115901EDAR,RANBP2c.186C>G (p.Tyr62Ter)
c.237C>G (p.Tyr79Ter)
c.330C>G (p.Tyr110Ter)
c.8370+156322G>C (n.8370+156322G>C)
2g.108929368G=CA1278368601EDAR,RANBP2c.186C= (p.Tyr62=)
c.237C= (p.Tyr79=)
c.330C= (p.Tyr110=)
c.8370+156322G= (n.8370+156322G=)
2g.108929368G>TCA1825160EDAR,RANBP2c.186C>A (p.Tyr62Ter)
c.237C>A (p.Tyr79Ter)
c.330C>A (p.Tyr110Ter)
c.8370+156322G>T (n.8370+156322G>T)
 dbSNP ExAC
2g.108929369T>ACA348115902EDAR,RANBP2c.185A>T (p.Tyr62Phe)
c.236A>T (p.Tyr79Phe)
c.329A>T (p.Tyr110Phe)
c.8370+156323T>A (n.8370+156323T>A)
2g.108929369T>CCA348115903EDAR,RANBP2c.185A>G (p.Tyr62Cys)
c.236A>G (p.Tyr79Cys)
c.329A>G (p.Tyr110Cys)
c.8370+156323T>C (n.8370+156323T>C)
2g.108929369T>GCA348115904EDAR,RANBP2c.185A>C (p.Tyr62Ser)
c.236A>C (p.Tyr79Ser)
c.329A>C (p.Tyr110Ser)
c.8370+156323T>G (n.8370+156323T>G)

Number of alleles fetched