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.108929342C>ACA348115841EDAR,RANBP2c.212G>T (p.Cys71Phe)
c.263G>T (p.Cys88Phe)
c.356G>T (p.Cys119Phe)
c.8370+156296C>A (n.8370+156296C>A)
2g.108929342C=CA1278368583EDAR,RANBP2c.212G= (p.Cys71=)
c.263G= (p.Cys88=)
c.356G= (p.Cys119=)
c.8370+156296C= (n.8370+156296C=)
2g.108929342C>GCA348115842EDAR,RANBP2c.212G>C (p.Cys71Ser)
c.263G>C (p.Cys88Ser)
c.356G>C (p.Cys119Ser)
c.8370+156296C>G (n.8370+156296C>G)
2g.108929342C>TCA1825152EDAR,RANBP2c.212G>A (p.Cys71Tyr)
c.263G>A (p.Cys88Tyr)
c.356G>A (p.Cys119Tyr)
c.8370+156296C>T (n.8370+156296C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929343A>CCA348115843EDAR,RANBP2c.211T>G (p.Cys71Gly)
c.262T>G (p.Cys88Gly)
c.355T>G (p.Cys119Gly)
c.8370+156297A>C (n.8370+156297A>C)
2g.108929343A>GCA348115845EDAR,RANBP2c.211T>C (p.Cys71Arg)
c.262T>C (p.Cys88Arg)
c.355T>C (p.Cys119Arg)
c.8370+156297A>G (n.8370+156297A>G)
2g.108929343A>TCA348115844EDAR,RANBP2c.211T>A (p.Cys71Ser)
c.262T>A (p.Cys88Ser)
c.355T>A (p.Cys119Ser)
c.8370+156297A>T (n.8370+156297A>T)
2g.108929344G>ACA428086883EDAR,RANBP2c.210C>T (p.Gly70=)
c.261C>T (p.Gly87=)
c.354C>T (p.Gly118=)
c.8370+156298G>A (n.8370+156298G>A)
2g.108929344G>CCA428086885EDAR,RANBP2c.210C>G (p.Gly70=)
c.261C>G (p.Gly87=)
c.354C>G (p.Gly118=)
c.8370+156298G>C (n.8370+156298G>C)
2g.108929344G>TCA428086886EDAR,RANBP2c.210C>A (p.Gly70=)
c.261C>A (p.Gly87=)
c.354C>A (p.Gly118=)
c.8370+156298G>T (n.8370+156298G>T)
2g.108929345C>ACA348115846EDAR,RANBP2c.209G>T (p.Gly70Val)
c.260G>T (p.Gly87Val)
c.353G>T (p.Gly118Val)
c.8370+156299C>A (n.8370+156299C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108929345C=CA1278368584EDAR,RANBP2c.209G= (p.Gly70=)
c.260G= (p.Gly87=)
c.353G= (p.Gly118=)
c.8370+156299C= (n.8370+156299C=)
2g.108929345C>GCA348115847EDAR,RANBP2c.209G>C (p.Gly70Ala)
c.260G>C (p.Gly87Ala)
c.353G>C (p.Gly118Ala)
c.8370+156299C>G (n.8370+156299C>G)
2g.108929345C>TCA348115848EDAR,RANBP2c.209G>A (p.Gly70Asp)
c.260G>A (p.Gly87Asp)
c.353G>A (p.Gly118Asp)
c.8370+156299C>T (n.8370+156299C>T)
 gnomAD v4
2g.108929346C>ACA348115849EDAR,RANBP2c.208G>T (p.Gly70Cys)
c.259G>T (p.Gly87Cys)
c.352G>T (p.Gly118Cys)
c.8370+156300C>A (n.8370+156300C>A)
2g.108929346C=CA1278368585EDAR,RANBP2c.208G= (p.Gly70=)
c.259G= (p.Gly87=)
c.352G= (p.Gly118=)
c.8370+156300C= (n.8370+156300C=)
2g.108929346C>GCA348115850EDAR,RANBP2c.208G>C (p.Gly70Arg)
c.259G>C (p.Gly87Arg)
c.352G>C (p.Gly118Arg)
c.8370+156300C>G (n.8370+156300C>G)
2g.108929346C>TCA1825153EDAR,RANBP2c.208G>A (p.Gly70Ser)
c.259G>A (p.Gly87Ser)
c.352G>A (p.Gly118Ser)
c.8370+156300C>T (n.8370+156300C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929346_108929347delinsCGCA1278368586EDAR,RANBP2c.207_208delinsCG (p.Tyr69=)
c.258_259delinsCG (p.Tyr86=)
c.351_352delinsCG (p.Tyr117=)
c.8370+156300_8370+156301delinsCG (n.8370+156300_8370+156301delinsCG)
2g.108929346_108929347insACA2660611277EDAR,RANBP2c.207_208insT (p.Gly70TrpfsTer25)
c.258_259insT (p.Gly87TrpfsTer25)
c.351_352insT (p.Gly118TrpfsTer25)
c.8370+156300_8370+156301insA (n.8370+156300_8370+156301insA)
 gnomAD v4
2g.108929347G>ACA249812EDAR,RANBP2c.207C>T (p.Tyr69=)
c.258C>T (p.Tyr86=)
c.351C>T (p.Tyr117=)
c.8370+156301G>A (n.8370+156301G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929347G>CCA348115851EDAR,RANBP2c.207C>G (p.Tyr69Ter)
c.258C>G (p.Tyr86Ter)
c.351C>G (p.Tyr117Ter)
c.8370+156301G>C (n.8370+156301G>C)
2g.108929347G=CA1278368587EDAR,RANBP2c.207C= (p.Tyr69=)
c.258C= (p.Tyr86=)
c.351C= (p.Tyr117=)
c.8370+156301G= (n.8370+156301G=)
2g.108929347G>TCA348115852EDAR,RANBP2c.207C>A (p.Tyr69Ter)
c.258C>A (p.Tyr86Ter)
c.351C>A (p.Tyr117Ter)
c.8370+156301G>T (n.8370+156301G>T)
2g.108929347delinsAACA913190037EDAR,RANBP2c.207delinsTT (p.Gly70TrpfsTer25)
c.258delinsTT (p.Gly87TrpfsTer25)
c.351delinsTT (p.Gly118TrpfsTer25)
c.8370+156301delinsAA (n.8370+156301delinsAA)
 ClinVar dbSNP
2g.108929348T>ACA348115853EDAR,RANBP2c.206A>T (p.Tyr69Phe)
c.257A>T (p.Tyr86Phe)
c.350A>T (p.Tyr117Phe)
c.8370+156302T>A (n.8370+156302T>A)
2g.108929348T>CCA348115854EDAR,RANBP2c.206A>G (p.Tyr69Cys)
c.257A>G (p.Tyr86Cys)
c.350A>G (p.Tyr117Cys)
c.8370+156302T>C (n.8370+156302T>C)
2g.108929348T>GCA348115855EDAR,RANBP2c.206A>C (p.Tyr69Ser)
c.257A>C (p.Tyr86Ser)
c.350A>C (p.Tyr117Ser)
c.8370+156302T>G (n.8370+156302T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108929348T=CA1278368588EDAR,RANBP2c.206A= (p.Tyr69=)
c.257A= (p.Tyr86=)
c.350A= (p.Tyr117=)
c.8370+156302T= (n.8370+156302T=)
2g.108929349A=CA1278368589EDAR,RANBP2c.205T= (p.Tyr69=)
c.256T= (p.Tyr86=)
c.349T= (p.Tyr117=)
c.8370+156303A= (n.8370+156303A=)
2g.108929349A>CCA348115858EDAR,RANBP2c.205T>G (p.Tyr69Asp)
c.256T>G (p.Tyr86Asp)
c.349T>G (p.Tyr117Asp)
c.8370+156303A>C (n.8370+156303A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929349A>GCA348115856EDAR,RANBP2c.205T>C (p.Tyr69His)
c.256T>C (p.Tyr86His)
c.349T>C (p.Tyr117His)
c.8370+156303A>G (n.8370+156303A>G)
2g.108929349A>TCA348115857EDAR,RANBP2c.205T>A (p.Tyr69Asn)
c.256T>A (p.Tyr86Asn)
c.349T>A (p.Tyr117Asn)
c.8370+156303A>T (n.8370+156303A>T)
 gnomAD v4
2g.108929349_108929350delinsAGCA1278368590EDAR,RANBP2c.204_205delinsCT (p.Asp68=)
c.255_256delinsCT (p.Asp85=)
c.348_349delinsCT (p.Asp116=)
c.8370+156303_8370+156304delinsAG (n.8370+156303_8370+156304delinsAG)
2g.108929350delCA1278368591EDAR,RANBP2c.204del (p.Tyr69ThrfsTer?)
c.255del (p.Tyr86ThrfsTer?)
c.348del (p.Tyr117ThrfsTer?)
c.8370+156304del (n.8370+156304del)
 ClinVar dbSNP
2g.108929350G>ACA428086889EDAR,RANBP2c.204C>T (p.Asp68=)
c.255C>T (p.Asp85=)
c.348C>T (p.Asp116=)
c.8370+156304G>A (n.8370+156304G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108929350G>CCA348115859EDAR,RANBP2c.204C>G (p.Asp68Glu)
c.255C>G (p.Asp85Glu)
c.348C>G (p.Asp116Glu)
c.8370+156304G>C (n.8370+156304G>C)
2g.108929350G=CA1278368593EDAR,RANBP2c.204C= (p.Asp68=)
c.255C= (p.Asp85=)
c.348C= (p.Asp116=)
c.8370+156304G= (n.8370+156304G=)
2g.108929350G>TCA348115860EDAR,RANBP2c.204C>A (p.Asp68Glu)
c.255C>A (p.Asp85Glu)
c.348C>A (p.Asp116Glu)
c.8370+156304G>T (n.8370+156304G>T)
 gnomAD v4
2g.108929350_108929353delinsGTCCCA1278368592EDAR,RANBP2c.201_204delinsGGAC (p.Glu67=)
c.252_255delinsGGAC (p.Glu84=)
c.345_348delinsGGAC (p.Glu115=)
c.8370+156304_8370+156307delinsGTCC (n.8370+156304_8370+156307delinsGTCC)
2g.108929351T>ACA348115861EDAR,RANBP2c.203A>T (p.Asp68Val)
c.254A>T (p.Asp85Val)
c.347A>T (p.Asp116Val)
c.8370+156305T>A (n.8370+156305T>A)
2g.108929351T>CCA348115862EDAR,RANBP2c.203A>G (p.Asp68Gly)
c.254A>G (p.Asp85Gly)
c.347A>G (p.Asp116Gly)
c.8370+156305T>C (n.8370+156305T>C)
2g.108929351T>GCA348115863EDAR,RANBP2c.203A>C (p.Asp68Ala)
c.254A>C (p.Asp85Ala)
c.347A>C (p.Asp116Ala)
c.8370+156305T>G (n.8370+156305T>G)
2g.108929353_108929355delCA754906521EDAR,RANBP2c.201_203del (p.Glu67del)
c.252_254del (p.Glu84del)
c.345_347del (p.Glu115del)
c.8370+156307_8370+156309del (n.8370+156307_8370+156309del)
 dbSNP gnomAD v3 gnomAD v4
2g.108929352C>ACA348115864EDAR,RANBP2c.202G>T (p.Asp68Tyr)
c.253G>T (p.Asp85Tyr)
c.346G>T (p.Asp116Tyr)
c.8370+156306C>A (n.8370+156306C>A)
2g.108929352C>GCA348115865EDAR,RANBP2c.202G>C (p.Asp68His)
c.253G>C (p.Asp85His)
c.346G>C (p.Asp116His)
c.8370+156306C>G (n.8370+156306C>G)
2g.108929352C>TCA348115866EDAR,RANBP2c.202G>A (p.Asp68Asn)
c.253G>A (p.Asp85Asn)
c.346G>A (p.Asp116Asn)
c.8370+156306C>T (n.8370+156306C>T)
2g.108929352_108929353insTTCGTCTTTGGTGCCGTAGCCCA2580063722EDAR,RANBP2c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)
c.253_254insGCTACGGCACCAAAGACGAAG (p.Glu84_Asp85insGlyTyrGlyThrLysAspGlu)
c.346_347insGCTACGGCACCAAAGACGAAG (p.Glu115_Asp116insGlyTyrGlyThrLysAspGlu)
c.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC (n.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC)
 ClinVar
2g.108929353C>ACA348115867EDAR,RANBP2c.201G>T (p.Glu67Asp)
c.252G>T (p.Glu84Asp)
c.345G>T (p.Glu115Asp)
c.8370+156307C>A (n.8370+156307C>A)

Number of alleles fetched