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.108929319A>CCA348115795EDAR,RANBP2c.235T>G (p.Phe79Val)
c.286T>G (p.Phe96Val)
c.379T>G (p.Phe127Val)
c.8370+156273A>C (n.8370+156273A>C)
2g.108929319A>GCA348115796EDAR,RANBP2c.235T>C (p.Phe79Leu)
c.286T>C (p.Phe96Leu)
c.379T>C (p.Phe127Leu)
c.8370+156273A>G (n.8370+156273A>G)
2g.108929319A>TCA348115797EDAR,RANBP2c.235T>A (p.Phe79Ile)
c.286T>A (p.Phe96Ile)
c.379T>A (p.Phe127Ile)
c.8370+156273A>T (n.8370+156273A>T)
2g.108929319_108929322delinsACTTCA1278368566EDAR,RANBP2c.232_235delinsAAGT (p.Lys78=)
c.283_286delinsAAGT (p.Lys95=)
c.376_379delinsAAGT (p.Lys126=)
c.8370+156273_8370+156276delinsACTT (n.8370+156273_8370+156276delinsACTT)
2g.108929320C>ACA348115799EDAR,RANBP2c.234G>T (p.Lys78Asn)
c.285G>T (p.Lys95Asn)
c.378G>T (p.Lys126Asn)
c.8370+156274C>A (n.8370+156274C>A)
2g.108929320C>GCA348115798EDAR,RANBP2c.234G>C (p.Lys78Asn)
c.285G>C (p.Lys95Asn)
c.378G>C (p.Lys126Asn)
c.8370+156274C>G (n.8370+156274C>G)
2g.108929320C>TCA428086867EDAR,RANBP2c.234G>A (p.Lys78=)
c.285G>A (p.Lys95=)
c.378G>A (p.Lys126=)
c.8370+156274C>T (n.8370+156274C>T)
 gnomAD v4
2g.108929322_108929324delCA535597401EDAR,RANBP2c.232_234del (p.Lys78del)
c.283_285del (p.Lys95del)
c.376_378del (p.Lys126del)
c.8370+156276_8370+156278del (n.8370+156276_8370+156278del)
 dbSNP gnomAD v2 gnomAD v4
2g.108929321T>ACA348115800EDAR,RANBP2c.233A>T (p.Lys78Met)
c.284A>T (p.Lys95Met)
c.377A>T (p.Lys126Met)
c.8370+156275T>A (n.8370+156275T>A)
2g.108929321T>CCA348115801EDAR,RANBP2c.233A>G (p.Lys78Arg)
c.284A>G (p.Lys95Arg)
c.377A>G (p.Lys126Arg)
c.8370+156275T>C (n.8370+156275T>C)
 dbSNP
2g.108929321T>GCA348115802EDAR,RANBP2c.233A>C (p.Lys78Thr)
c.284A>C (p.Lys95Thr)
c.377A>C (p.Lys126Thr)
c.8370+156275T>G (n.8370+156275T>G)
2g.108929321T=CA1278368567EDAR,RANBP2c.233A= (p.Lys78=)
c.284A= (p.Lys95=)
c.377A= (p.Lys126=)
c.8370+156275T= (n.8370+156275T=)
2g.108929322T>ACA348115803EDAR,RANBP2c.232A>T (p.Lys78Ter)
c.283A>T (p.Lys95Ter)
c.376A>T (p.Lys126Ter)
c.8370+156276T>A (n.8370+156276T>A)
2g.108929322T>CCA1825143EDAR,RANBP2c.232A>G (p.Lys78Glu)
c.283A>G (p.Lys95Glu)
c.376A>G (p.Lys126Glu)
c.8370+156276T>C (n.8370+156276T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929322T>GCA348115804EDAR,RANBP2c.232A>C (p.Lys78Gln)
c.283A>C (p.Lys95Gln)
c.376A>C (p.Lys126Gln)
c.8370+156276T>G (n.8370+156276T>G)
2g.108929322T=CA1278368568EDAR,RANBP2c.232A= (p.Lys78=)
c.283A= (p.Lys95=)
c.376A= (p.Lys126=)
c.8370+156276T= (n.8370+156276T=)
2g.108929322_108929325delinsTCTCCA1278368569EDAR,RANBP2c.229_232delinsGAGA (p.Glu77=)
c.280_283delinsGAGA (p.Glu94=)
c.373_376delinsGAGA (p.Glu125=)
c.8370+156276_8370+156279delinsTCTC (n.8370+156276_8370+156279delinsTCTC)
2g.108929323C>ACA348115805EDAR,RANBP2c.231G>T (p.Glu77Asp)
c.282G>T (p.Glu94Asp)
c.375G>T (p.Glu125Asp)
c.8370+156277C>A (n.8370+156277C>A)
 COSMIC COSMIC
2g.108929323C>GCA348115806EDAR,RANBP2c.231G>C (p.Glu77Asp)
c.282G>C (p.Glu94Asp)
c.375G>C (p.Glu125Asp)
c.8370+156277C>G (n.8370+156277C>G)
 COSMIC COSMIC
2g.108929323C>TCA428086868EDAR,RANBP2c.231G>A (p.Glu77=)
c.282G>A (p.Glu94=)
c.375G>A (p.Glu125=)
c.8370+156277C>T (n.8370+156277C>T)
2g.108929324_108929326delCA54012149EDAR,RANBP2c.229_231del (p.Glu77del)
c.280_282del (p.Glu94del)
c.373_375del (p.Glu125del)
c.8370+156278_8370+156280del (n.8370+156278_8370+156280del)
 dbSNP
2g.108929324T>ACA348115807EDAR,RANBP2c.230A>T (p.Glu77Val)
c.281A>T (p.Glu94Val)
c.374A>T (p.Glu125Val)
c.8370+156278T>A (n.8370+156278T>A)
2g.108929324T>CCA348115808EDAR,RANBP2c.230A>G (p.Glu77Gly)
c.281A>G (p.Glu94Gly)
c.374A>G (p.Glu125Gly)
c.8370+156278T>C (n.8370+156278T>C)
 gnomAD v4
2g.108929324T>GCA348115809EDAR,RANBP2c.230A>C (p.Glu77Ala)
c.281A>C (p.Glu94Ala)
c.374A>C (p.Glu125Ala)
c.8370+156278T>G (n.8370+156278T>G)
2g.108929325C>ACA348115810EDAR,RANBP2c.229G>T (p.Glu77Ter)
c.280G>T (p.Glu94Ter)
c.373G>T (p.Glu125Ter)
c.8370+156279C>A (n.8370+156279C>A)
2g.108929325C>GCA348115811EDAR,RANBP2c.229G>C (p.Glu77Gln)
c.280G>C (p.Glu94Gln)
c.373G>C (p.Glu125Gln)
c.8370+156279C>G (n.8370+156279C>G)
2g.108929325C>TCA348115812EDAR,RANBP2c.229G>A (p.Glu77Lys)
c.280G>A (p.Glu94Lys)
c.373G>A (p.Glu125Lys)
c.8370+156279C>T (n.8370+156279C>T)
2g.108929326C>ACA428086869EDAR,RANBP2c.228G>T (p.Ala76=)
c.279G>T (p.Ala93=)
c.372G>T (p.Ala124=)
c.8370+156280C>A (n.8370+156280C>A)
2g.108929326C=CA1278368570EDAR,RANBP2c.228G= (p.Ala76=)
c.279G= (p.Ala93=)
c.372G= (p.Ala124=)
c.8370+156280C= (n.8370+156280C=)
2g.108929326C>GCA428086870EDAR,RANBP2c.228G>C (p.Ala76=)
c.279G>C (p.Ala93=)
c.372G>C (p.Ala124=)
c.8370+156280C>G (n.8370+156280C>G)
2g.108929326C>TCA1825144EDAR,RANBP2c.228G>A (p.Ala76=)
c.279G>A (p.Ala93=)
c.372G>A (p.Ala124=)
c.8370+156280C>T (n.8370+156280C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929326_108929327delinsCGCA1278368571EDAR,RANBP2c.227_228delinsCG (p.Ala76=)
c.278_279delinsCG (p.Ala93=)
c.371_372delinsCG (p.Ala124=)
c.8370+156280_8370+156281delinsCG (n.8370+156280_8370+156281delinsCG)
2g.108929327delCA54012150EDAR,RANBP2c.227del (p.Ala76GlyfsTer27)
c.278del (p.Ala93GlyfsTer27)
c.371del (p.Ala124GlyfsTer27)
c.8370+156281del (n.8370+156281del)
 dbSNP gnomAD v4
2g.108929327G>ACA1825145EDAR,RANBP2c.227C>T (p.Ala76Val)
c.278C>T (p.Ala93Val)
c.371C>T (p.Ala124Val)
c.8370+156281G>A (n.8370+156281G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929327G>CCA348115813EDAR,RANBP2c.227C>G (p.Ala76Gly)
c.278C>G (p.Ala93Gly)
c.371C>G (p.Ala124Gly)
c.8370+156281G>C (n.8370+156281G>C)
2g.108929327G=CA1278368572EDAR,RANBP2c.227C= (p.Ala76=)
c.278C= (p.Ala93=)
c.371C= (p.Ala124=)
c.8370+156281G= (n.8370+156281G=)
2g.108929327G>TCA54012151EDAR,RANBP2c.227C>A (p.Ala76Glu)
c.278C>A (p.Ala93Glu)
c.371C>A (p.Ala124Glu)
c.8370+156281G>T (n.8370+156281G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929328C>ACA348115814EDAR,RANBP2c.226G>T (p.Ala76Ser)
c.277G>T (p.Ala93Ser)
c.370G>T (p.Ala124Ser)
c.8370+156282C>A (n.8370+156282C>A)
2g.108929328C>GCA348115815EDAR,RANBP2c.226G>C (p.Ala76Pro)
c.277G>C (p.Ala93Pro)
c.370G>C (p.Ala124Pro)
c.8370+156282C>G (n.8370+156282C>G)
2g.108929328C>TCA348115816EDAR,RANBP2c.226G>A (p.Ala76Thr)
c.277G>A (p.Ala93Thr)
c.370G>A (p.Ala124Thr)
c.8370+156282C>T (n.8370+156282C>T)
2g.108929329C>ACA428086871EDAR,RANBP2c.225G>T (p.Pro75=)
c.276G>T (p.Pro92=)
c.369G>T (p.Pro123=)
c.8370+156283C>A (n.8370+156283C>A)
2g.108929329C=CA1278368573EDAR,RANBP2c.225G= (p.Pro75=)
c.276G= (p.Pro92=)
c.369G= (p.Pro123=)
c.8370+156283C= (n.8370+156283C=)
2g.108929329C>GCA428086872EDAR,RANBP2c.225G>C (p.Pro75=)
c.276G>C (p.Pro92=)
c.369G>C (p.Pro123=)
c.8370+156283C>G (n.8370+156283C>G)
2g.108929329C>TCA1825146EDAR,RANBP2c.225G>A (p.Pro75=)
c.276G>A (p.Pro92=)
c.369G>A (p.Pro123=)
c.8370+156283C>T (n.8370+156283C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929330G>ACA1825147EDAR,RANBP2c.224C>T (p.Pro75Leu)
c.275C>T (p.Pro92Leu)
c.368C>T (p.Pro123Leu)
c.8370+156284G>A (n.8370+156284G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929330G>CCA348115818EDAR,RANBP2c.224C>G (p.Pro75Arg)
c.275C>G (p.Pro92Arg)
c.368C>G (p.Pro123Arg)
c.8370+156284G>C (n.8370+156284G>C)
2g.108929330G=CA1278368574EDAR,RANBP2c.224C= (p.Pro75=)
c.275C= (p.Pro92=)
c.368C= (p.Pro123=)
c.8370+156284G= (n.8370+156284G=)
2g.108929330G>TCA348115817EDAR,RANBP2c.224C>A (p.Pro75Gln)
c.275C>A (p.Pro92Gln)
c.368C>A (p.Pro123Gln)
c.8370+156284G>T (n.8370+156284G>T)
 gnomAD v4
2g.108929331G>ACA1825148EDAR,RANBP2c.223C>T (p.Pro75Ser)
c.274C>T (p.Pro92Ser)
c.367C>T (p.Pro123Ser)
c.8370+156285G>A (n.8370+156285G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929331G>CCA348115819EDAR,RANBP2c.223C>G (p.Pro75Ala)
c.274C>G (p.Pro92Ala)
c.367C>G (p.Pro123Ala)
c.8370+156285G>C (n.8370+156285G>C)
2g.108929331G=CA1278368575EDAR,RANBP2c.223C= (p.Pro75=)
c.274C= (p.Pro92=)
c.367C= (p.Pro123=)
c.8370+156285G= (n.8370+156285G=)
2g.108929331G>TCA348115820EDAR,RANBP2c.223C>A (p.Pro75Thr)
c.274C>A (p.Pro92Thr)
c.367C>A (p.Pro123Thr)
c.8370+156285G>T (n.8370+156285G>T)
2g.108929332G>ACA428086873EDAR,RANBP2c.222C>T (p.Cys74=)
c.273C>T (p.Cys91=)
c.366C>T (p.Cys122=)
c.8370+156286G>A (n.8370+156286G>A)
2g.108929332G>CCA348115821EDAR,RANBP2c.222C>G (p.Cys74Trp)
c.273C>G (p.Cys91Trp)
c.366C>G (p.Cys122Trp)
c.8370+156286G>C (n.8370+156286G>C)
2g.108929332G=CA1278368576EDAR,RANBP2c.222C= (p.Cys74=)
c.273C= (p.Cys91=)
c.366C= (p.Cys122=)
c.8370+156286G= (n.8370+156286G=)
2g.108929332G>TCA348115822EDAR,RANBP2c.222C>A (p.Cys74Ter)
c.273C>A (p.Cys91Ter)
c.366C>A (p.Cys122Ter)
c.8370+156286G>T (n.8370+156286G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929333C>ACA348115823EDAR,RANBP2c.221G>T (p.Cys74Phe)
c.272G>T (p.Cys91Phe)
c.365G>T (p.Cys122Phe)
c.8370+156287C>A (n.8370+156287C>A)
2g.108929333C>GCA348115824EDAR,RANBP2c.221G>C (p.Cys74Ser)
c.272G>C (p.Cys91Ser)
c.365G>C (p.Cys122Ser)
c.8370+156287C>G (n.8370+156287C>G)
2g.108929333C>TCA348115825EDAR,RANBP2c.221G>A (p.Cys74Tyr)
c.272G>A (p.Cys91Tyr)
c.365G>A (p.Cys122Tyr)
c.8370+156287C>T (n.8370+156287C>T)
2g.108929334A=CA1278368577EDAR,RANBP2c.220T= (p.Cys74=)
c.271T= (p.Cys91=)
c.364T= (p.Cys122=)
c.8370+156288A= (n.8370+156288A=)
2g.108929334A>CCA348115826EDAR,RANBP2c.220T>G (p.Cys74Gly)
c.271T>G (p.Cys91Gly)
c.364T>G (p.Cys122Gly)
c.8370+156288A>C (n.8370+156288A>C)
2g.108929334A>GCA348115827EDAR,RANBP2c.220T>C (p.Cys74Arg)
c.271T>C (p.Cys91Arg)
c.364T>C (p.Cys122Arg)
c.8370+156288A>G (n.8370+156288A>G)
 dbSNP
2g.108929334A>TCA348115828EDAR,RANBP2c.220T>A (p.Cys74Ser)
c.271T>A (p.Cys91Ser)
c.364T>A (p.Cys122Ser)
c.8370+156288A>T (n.8370+156288A>T)
 gnomAD v4
2g.108929335G>ACA428086874EDAR,RANBP2c.219C>T (p.Pro73=)
c.270C>T (p.Pro90=)
c.363C>T (p.Pro121=)
c.8370+156289G>A (n.8370+156289G>A)
2g.108929335G>CCA428086876EDAR,RANBP2c.219C>G (p.Pro73=)
c.270C>G (p.Pro90=)
c.363C>G (p.Pro121=)
c.8370+156289G>C (n.8370+156289G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108929335G=CA1278368578EDAR,RANBP2c.219C= (p.Pro73=)
c.270C= (p.Pro90=)
c.363C= (p.Pro121=)
c.8370+156289G= (n.8370+156289G=)
2g.108929335G>TCA428086875EDAR,RANBP2c.219C>A (p.Pro73=)
c.270C>A (p.Pro90=)
c.363C>A (p.Pro121=)
c.8370+156289G>T (n.8370+156289G>T)
2g.108929336G>ACA348115831EDAR,RANBP2c.218C>T (p.Pro73Leu)
c.269C>T (p.Pro90Leu)
c.362C>T (p.Pro121Leu)
c.8370+156290G>A (n.8370+156290G>A)
 gnomAD v4
2g.108929336G>CCA348115829EDAR,RANBP2c.218C>G (p.Pro73Arg)
c.269C>G (p.Pro90Arg)
c.362C>G (p.Pro121Arg)
c.8370+156290G>C (n.8370+156290G>C)
2g.108929336G>TCA348115830EDAR,RANBP2c.218C>A (p.Pro73His)
c.269C>A (p.Pro90His)
c.362C>A (p.Pro121His)
c.8370+156290G>T (n.8370+156290G>T)
 COSMIC COSMIC
2g.108929337G>ACA348115832EDAR,RANBP2c.217C>T (p.Pro73Ser)
c.268C>T (p.Pro90Ser)
c.361C>T (p.Pro121Ser)
c.8370+156291G>A (n.8370+156291G>A)
2g.108929337G>CCA348115833EDAR,RANBP2c.217C>G (p.Pro73Ala)
c.268C>G (p.Pro90Ala)
c.361C>G (p.Pro121Ala)
c.8370+156291G>C (n.8370+156291G>C)
2g.108929337G>TCA348115834EDAR,RANBP2c.217C>A (p.Pro73Thr)
c.268C>A (p.Pro90Thr)
c.361C>A (p.Pro121Thr)
c.8370+156291G>T (n.8370+156291G>T)
2g.108929338G>ACA428086877EDAR,RANBP2c.216C>T (p.Val72=)
c.267C>T (p.Val89=)
c.360C>T (p.Val120=)
c.8370+156292G>A (n.8370+156292G>A)
2g.108929338G>CCA428086878EDAR,RANBP2c.216C>G (p.Val72=)
c.267C>G (p.Val89=)
c.360C>G (p.Val120=)
c.8370+156292G>C (n.8370+156292G>C)
 dbSNP
2g.108929338G=CA1278368579EDAR,RANBP2c.216C= (p.Val72=)
c.267C= (p.Val89=)
c.360C= (p.Val120=)
c.8370+156292G= (n.8370+156292G=)
2g.108929338G>TCA428086880EDAR,RANBP2c.216C>A (p.Val72=)
c.267C>A (p.Val89=)
c.360C>A (p.Val120=)
c.8370+156292G>T (n.8370+156292G>T)
2g.108929339A=CA1278368580EDAR,RANBP2c.215T= (p.Val72=)
c.266T= (p.Val89=)
c.359T= (p.Val120=)
c.8370+156293A= (n.8370+156293A=)
2g.108929339A>CCA348115835EDAR,RANBP2c.215T>G (p.Val72Gly)
c.266T>G (p.Val89Gly)
c.359T>G (p.Val120Gly)
c.8370+156293A>C (n.8370+156293A>C)
 dbSNP
2g.108929339A>GCA348115836EDAR,RANBP2c.215T>C (p.Val72Ala)
c.266T>C (p.Val89Ala)
c.359T>C (p.Val120Ala)
c.8370+156293A>G (n.8370+156293A>G)
2g.108929339A>TCA348115837EDAR,RANBP2c.215T>A (p.Val72Asp)
c.266T>A (p.Val89Asp)
c.359T>A (p.Val120Asp)
c.8370+156293A>T (n.8370+156293A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108929340C>ACA348115838EDAR,RANBP2c.214G>T (p.Val72Phe)
c.265G>T (p.Val89Phe)
c.358G>T (p.Val120Phe)
c.8370+156294C>A (n.8370+156294C>A)
2g.108929340C=CA1278368581EDAR,RANBP2c.214G= (p.Val72=)
c.265G= (p.Val89=)
c.358G= (p.Val120=)
c.8370+156294C= (n.8370+156294C=)
2g.108929340C>GCA1825149EDAR,RANBP2c.214G>C (p.Val72Leu)
c.265G>C (p.Val89Leu)
c.358G>C (p.Val120Leu)
c.8370+156294C>G (n.8370+156294C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929340C>TCA1825150EDAR,RANBP2c.214G>A (p.Val72Ile)
c.265G>A (p.Val89Ile)
c.358G>A (p.Val120Ile)
c.8370+156294C>T (n.8370+156294C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929341G>ACA1825151EDAR,RANBP2c.213C>T (p.Cys71=)
c.264C>T (p.Cys88=)
c.357C>T (p.Cys119=)
c.8370+156295G>A (n.8370+156295G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929341G>CCA348115839EDAR,RANBP2c.213C>G (p.Cys71Trp)
c.264C>G (p.Cys88Trp)
c.357C>G (p.Cys119Trp)
c.8370+156295G>C (n.8370+156295G>C)
2g.108929341G=CA1278368582EDAR,RANBP2c.213C= (p.Cys71=)
c.264C= (p.Cys88=)
c.357C= (p.Cys119=)
c.8370+156295G= (n.8370+156295G=)
2g.108929341G>TCA348115840EDAR,RANBP2c.213C>A (p.Cys71Ter)
c.264C>A (p.Cys88Ter)
c.357C>A (p.Cys119Ter)
c.8370+156295G>T (n.8370+156295G>T)
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.108929349dupCA2842691037EDAR,RANBP2c.205dup (p.Tyr69LeufsTer26)
c.256dup (p.Tyr86LeufsTer26)
c.349dup (p.Tyr117LeufsTer26)
c.8370+156303dup (n.8370+156303dup)
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)
2g.108929353C>GCA348115868EDAR,RANBP2c.201G>C (p.Glu67Asp)
c.252G>C (p.Glu84Asp)
c.345G>C (p.Glu115Asp)
c.8370+156307C>G (n.8370+156307C>G)
2g.108929353C>TCA428086893EDAR,RANBP2c.201G>A (p.Glu67=)
c.252G>A (p.Glu84=)
c.345G>A (p.Glu115=)
c.8370+156307C>T (n.8370+156307C>T)
2g.108929354T>ACA348115869EDAR,RANBP2c.200A>T (p.Glu67Val)
c.251A>T (p.Glu84Val)
c.344A>T (p.Glu115Val)
c.8370+156308T>A (n.8370+156308T>A)
2g.108929354T>CCA348115870EDAR,RANBP2c.200A>G (p.Glu67Gly)
c.251A>G (p.Glu84Gly)
c.344A>G (p.Glu115Gly)
c.8370+156308T>C (n.8370+156308T>C)
2g.108929354T>GCA348115871EDAR,RANBP2c.200A>C (p.Glu67Ala)
c.251A>C (p.Glu84Ala)
c.344A>C (p.Glu115Ala)
c.8370+156308T>G (n.8370+156308T>G)
2g.108929355C>ACA348115874EDAR,RANBP2c.199G>T (p.Glu67Ter)
c.250G>T (p.Glu84Ter)
c.343G>T (p.Glu115Ter)
c.8370+156309C>A (n.8370+156309C>A)
2g.108929355C=CA1278368594EDAR,RANBP2c.199G= (p.Glu67=)
c.250G= (p.Glu84=)
c.343G= (p.Glu115=)
c.8370+156309C= (n.8370+156309C=)
2g.108929355C>GCA348115872EDAR,RANBP2c.199G>C (p.Glu67Gln)
c.250G>C (p.Glu84Gln)
c.343G>C (p.Glu115Gln)
c.8370+156309C>G (n.8370+156309C>G)
2g.108929355C>TCA348115873EDAR,RANBP2c.199G>A (p.Glu67Lys)
c.250G>A (p.Glu84Lys)
c.343G>A (p.Glu115Lys)
c.8370+156309C>T (n.8370+156309C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929356G>ACA1825154EDAR,RANBP2c.198C>T (p.Asp66=)
c.249C>T (p.Asp83=)
c.342C>T (p.Asp114=)
c.8370+156310G>A (n.8370+156310G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929356G>CCA348115875EDAR,RANBP2c.198C>G (p.Asp66Glu)
c.249C>G (p.Asp83Glu)
c.342C>G (p.Asp114Glu)
c.8370+156310G>C (n.8370+156310G>C)
2g.108929356G=CA1278368595EDAR,RANBP2c.198C= (p.Asp66=)
c.249C= (p.Asp83=)
c.342C= (p.Asp114=)
c.8370+156310G= (n.8370+156310G=)
2g.108929356G>TCA348115876EDAR,RANBP2c.198C>A (p.Asp66Glu)
c.249C>A (p.Asp83Glu)
c.342C>A (p.Asp114Glu)
c.8370+156310G>T (n.8370+156310G>T)
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)
2g.108929370A>CCA348115905EDAR,RANBP2c.184T>G (p.Tyr62Asp)
c.235T>G (p.Tyr79Asp)
c.328T>G (p.Tyr110Asp)
c.8370+156324A>C (n.8370+156324A>C)
2g.108929370A>GCA348115906EDAR,RANBP2c.184T>C (p.Tyr62His)
c.235T>C (p.Tyr79His)
c.328T>C (p.Tyr110His)
c.8370+156324A>G (n.8370+156324A>G)
2g.108929370A>TCA348115907EDAR,RANBP2c.184T>A (p.Tyr62Asn)
c.235T>A (p.Tyr79Asn)
c.328T>A (p.Tyr110Asn)
c.8370+156324A>T (n.8370+156324A>T)
2g.108929371G>ACA428086911EDAR,RANBP2c.183C>T (p.Gly61=)
c.234C>T (p.Gly78=)
c.327C>T (p.Gly109=)
c.8370+156325G>A (n.8370+156325G>A)
2g.108929371G>CCA428086910EDAR,RANBP2c.183C>G (p.Gly61=)
c.234C>G (p.Gly78=)
c.327C>G (p.Gly109=)
c.8370+156325G>C (n.8370+156325G>C)
2g.108929371G>TCA428086909EDAR,RANBP2c.183C>A (p.Gly61=)
c.234C>A (p.Gly78=)
c.327C>A (p.Gly109=)
c.8370+156325G>T (n.8370+156325G>T)
2g.108929372C>ACA348115908EDAR,RANBP2c.182G>T (p.Gly61Val)
c.233G>T (p.Gly78Val)
c.326G>T (p.Gly109Val)
c.8370+156326C>A (n.8370+156326C>A)
2g.108929372C=CA1278368602EDAR,RANBP2c.182G= (p.Gly61=)
c.233G= (p.Gly78=)
c.326G= (p.Gly109=)
c.8370+156326C= (n.8370+156326C=)
2g.108929372C>GCA348115909EDAR,RANBP2c.182G>C (p.Gly61Ala)
c.233G>C (p.Gly78Ala)
c.326G>C (p.Gly109Ala)
c.8370+156326C>G (n.8370+156326C>G)
2g.108929372C>TCA54012152EDAR,RANBP2c.182G>A (p.Gly61Asp)
c.233G>A (p.Gly78Asp)
c.326G>A (p.Gly109Asp)
c.8370+156326C>T (n.8370+156326C>T)
 dbSNP gnomAD v4
2g.108929373C>ACA348115910EDAR,RANBP2c.181G>T (p.Gly61Cys)
c.232G>T (p.Gly78Cys)
c.325G>T (p.Gly109Cys)
c.8370+156327C>A (n.8370+156327C>A)
2g.108929373C>GCA348115911EDAR,RANBP2c.181G>C (p.Gly61Arg)
c.232G>C (p.Gly78Arg)
c.325G>C (p.Gly109Arg)
c.8370+156327C>G (n.8370+156327C>G)
2g.108929373C>TCA348115912EDAR,RANBP2c.181G>A (p.Gly61Ser)
c.232G>A (p.Gly78Ser)
c.325G>A (p.Gly109Ser)
c.8370+156327C>T (n.8370+156327C>T)
 gnomAD v4
2g.108929374A>CCA348115913EDAR,RANBP2c.180T>G (p.Cys60Trp)
c.231T>G (p.Cys77Trp)
c.324T>G (p.Cys108Trp)
c.8370+156328A>C (n.8370+156328A>C)
2g.108929374A>GCA428086915EDAR,RANBP2c.180T>C (p.Cys60=)
c.231T>C (p.Cys77=)
c.324T>C (p.Cys108=)
c.8370+156328A>G (n.8370+156328A>G)
2g.108929374A>TCA348115914EDAR,RANBP2c.180T>A (p.Cys60Ter)
c.231T>A (p.Cys77Ter)
c.324T>A (p.Cys108Ter)
c.8370+156328A>T (n.8370+156328A>T)
2g.108929375C>ACA348115916EDAR,RANBP2c.179G>T (p.Cys60Phe)
c.230G>T (p.Cys77Phe)
c.323G>T (p.Cys108Phe)
c.8370+156329C>A (n.8370+156329C>A)
2g.108929375C>GCA348115917EDAR,RANBP2c.179G>C (p.Cys60Ser)
c.230G>C (p.Cys77Ser)
c.323G>C (p.Cys108Ser)
c.8370+156329C>G (n.8370+156329C>G)
2g.108929375C>TCA348115915EDAR,RANBP2c.179G>A (p.Cys60Tyr)
c.230G>A (p.Cys77Tyr)
c.323G>A (p.Cys108Tyr)
c.8370+156329C>T (n.8370+156329C>T)
 ClinVar gnomAD v4
2g.108929376A>CCA348115918EDAR,RANBP2c.178T>G (p.Cys60Gly)
c.229T>G (p.Cys77Gly)
c.322T>G (p.Cys108Gly)
c.8370+156330A>C (n.8370+156330A>C)
2g.108929376A>GCA348115919EDAR,RANBP2c.178T>C (p.Cys60Arg)
c.229T>C (p.Cys77Arg)
c.322T>C (p.Cys108Arg)
c.8370+156330A>G (n.8370+156330A>G)
2g.108929376A>TCA348115920EDAR,RANBP2c.178T>A (p.Cys60Ser)
c.229T>A (p.Cys77Ser)
c.322T>A (p.Cys108Ser)
c.8370+156330A>T (n.8370+156330A>T)
2g.108929377G>ACA428086918EDAR,RANBP2c.177C>T (p.Ser59=)
c.228C>T (p.Ser76=)
c.321C>T (p.Ser107=)
c.8370+156331G>A (n.8370+156331G>A)
 gnomAD v4
2g.108929377G>CCA428086920EDAR,RANBP2c.177C>G (p.Ser59=)
c.228C>G (p.Ser76=)
c.321C>G (p.Ser107=)
c.8370+156331G>C (n.8370+156331G>C)
2g.108929377G>TCA428086919EDAR,RANBP2c.177C>A (p.Ser59=)
c.228C>A (p.Ser76=)
c.321C>A (p.Ser107=)
c.8370+156331G>T (n.8370+156331G>T)
2g.108929378delCA2660611279EDAR,RANBP2c.177del (p.Cys60ValfsTer?)
c.228del (p.Cys77ValfsTer?)
c.321del (p.Cys108ValfsTer?)
c.8370+156332del (n.8370+156332del)
 gnomAD v4
2g.108929378G>ACA348115921EDAR,RANBP2c.176C>T (p.Ser59Phe)
c.227C>T (p.Ser76Phe)
c.320C>T (p.Ser107Phe)
c.8370+156332G>A (n.8370+156332G>A)
2g.108929378G>CCA348115922EDAR,RANBP2c.176C>G (p.Ser59Cys)
c.227C>G (p.Ser76Cys)
c.320C>G (p.Ser107Cys)
c.8370+156332G>C (n.8370+156332G>C)
2g.108929378G>TCA348115923EDAR,RANBP2c.176C>A (p.Ser59Tyr)
c.227C>A (p.Ser76Tyr)
c.320C>A (p.Ser107Tyr)
c.8370+156332G>T (n.8370+156332G>T)
 gnomAD v4
2g.108929379A>CCA348115924EDAR,RANBP2c.175T>G (p.Ser59Ala)
c.226T>G (p.Ser76Ala)
c.319T>G (p.Ser107Ala)
c.8370+156333A>C (n.8370+156333A>C)
2g.108929379A>GCA348115925EDAR,RANBP2c.175T>C (p.Ser59Pro)
c.226T>C (p.Ser76Pro)
c.319T>C (p.Ser107Pro)
c.8370+156333A>G (n.8370+156333A>G)
2g.108929379A>TCA348115926EDAR,RANBP2c.175T>A (p.Ser59Thr)
c.226T>A (p.Ser76Thr)
c.319T>A (p.Ser107Thr)
c.8370+156333A>T (n.8370+156333A>T)
2g.108929380C>ACA348115927EDAR,RANBP2c.175-1G>T (n.175-1G>T)
c.226-1G>T (n.226-1G>T)
c.319-1G>T (n.319-1G>T)
c.8370+156334C>A (n.8370+156334C>A)
2g.108929380C>GCA348115928EDAR,RANBP2c.175-1G>C (n.175-1G>C)
c.226-1G>C (n.226-1G>C)
c.319-1G>C (n.319-1G>C)
c.8370+156334C>G (n.8370+156334C>G)
2g.108929380C>TCA348115929EDAR,RANBP2c.175-1G>A (n.175-1G>A)
c.226-1G>A (n.226-1G>A)
c.319-1G>A (n.319-1G>A)
c.8370+156334C>T (n.8370+156334C>T)
 gnomAD v4
2g.108929381T>ACA348115931EDAR,RANBP2c.175-2A>T (n.175-2A>T)
c.226-2A>T (n.226-2A>T)
c.319-2A>T (n.319-2A>T)
c.8370+156335T>A (n.8370+156335T>A)
2g.108929381T>CCA1825161EDAR,RANBP2c.175-2A>G (n.175-2A>G)
c.226-2A>G (n.226-2A>G)
c.319-2A>G (n.319-2A>G)
c.8370+156335T>C (n.8370+156335T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929381T>GCA348115930EDAR,RANBP2c.175-2A>C (n.175-2A>C)
c.226-2A>C (n.226-2A>C)
c.319-2A>C (n.319-2A>C)
c.8370+156335T>G (n.8370+156335T>G)
2g.108929381T=CA1278368603EDAR,RANBP2c.175-2A= (n.175-2A=)
c.226-2A= (n.226-2A=)
c.319-2A= (n.319-2A=)
c.8370+156335T= (n.8370+156335T=)
2g.108929383T>CCA1278368605EDAR,RANBP2c.175-4A>G (n.175-4A>G)
c.226-4A>G (n.226-4A>G)
c.319-4A>G (n.319-4A>G)
c.8370+156337T>C (n.8370+156337T>C)
 dbSNP
2g.108929383T=CA1278368604EDAR,RANBP2c.175-4A= (n.175-4A=)
c.226-4A= (n.226-4A=)
c.319-4A= (n.319-4A=)
c.8370+156337T= (n.8370+156337T=)
2g.108929384C>TCA2577065740EDAR,RANBP2c.175-5G>A (n.175-5G>A)
c.226-5G>A (n.226-5G>A)
c.319-5G>A (n.319-5G>A)
c.8370+156338C>T (n.8370+156338C>T)
2g.108929385C=CA1278368606EDAR,RANBP2c.175-6G= (n.175-6G=)
c.226-6G= (n.226-6G=)
c.319-6G= (n.319-6G=)
c.8370+156339C= (n.8370+156339C=)
2g.108929385C>GCA1825162EDAR,RANBP2c.175-6G>C (n.175-6G>C)
c.226-6G>C (n.226-6G>C)
c.319-6G>C (n.319-6G>C)
c.8370+156339C>G (n.8370+156339C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929386A>GCA2660611280EDAR,RANBP2c.175-7T>C (n.175-7T>C)
c.226-7T>C (n.226-7T>C)
c.319-7T>C (n.319-7T>C)
c.8370+156340A>G (n.8370+156340A>G)
 gnomAD v4
2g.108929387G>TCA2842691038EDAR,RANBP2c.175-8C>A (n.175-8C>A)
c.226-8C>A (n.226-8C>A)
c.319-8C>A (n.319-8C>A)
c.8370+156341G>T (n.8370+156341G>T)
2g.108929388G>ACA754906589EDAR,RANBP2c.175-9C>T (n.175-9C>T)
c.226-9C>T (n.226-9C>T)
c.319-9C>T (n.319-9C>T)
c.8370+156342G>A (n.8370+156342G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108929388G>CCA2660611281EDAR,RANBP2c.175-9C>G (n.175-9C>G)
c.226-9C>G (n.226-9C>G)
c.319-9C>G (n.319-9C>G)
c.8370+156342G>C (n.8370+156342G>C)
 gnomAD v4
2g.108929388G=CA1278368607EDAR,RANBP2c.175-9C= (n.175-9C=)
c.226-9C= (n.226-9C=)
c.319-9C= (n.319-9C=)
c.8370+156342G= (n.8370+156342G=)
2g.108929389G>ACA1825163EDAR,RANBP2c.175-10C>T (n.175-10C>T)
c.226-10C>T (n.226-10C>T)
c.319-10C>T (n.319-10C>T)
c.8370+156343G>A (n.8370+156343G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929389G=CA1278368608EDAR,RANBP2c.175-10C= (n.175-10C=)
c.226-10C= (n.226-10C=)
c.319-10C= (n.319-10C=)
c.8370+156343G= (n.8370+156343G=)
2g.108929390A>GCA2660611282EDAR,RANBP2c.175-11T>C (n.175-11T>C)
c.226-11T>C (n.226-11T>C)
c.319-11T>C (n.319-11T>C)
c.8370+156344A>G (n.8370+156344A>G)
 gnomAD v4
2g.108929392A=CA1278368609EDAR,RANBP2c.175-13T= (n.175-13T=)
c.226-13T= (n.226-13T=)
c.319-13T= (n.319-13T=)
c.8370+156346A= (n.8370+156346A=)
2g.108929392A>GCA754906593EDAR,RANBP2c.175-13T>C (n.175-13T>C)
c.226-13T>C (n.226-13T>C)
c.319-13T>C (n.319-13T>C)
c.8370+156346A>G (n.8370+156346A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.108929393G>ACA2700333866EDAR,RANBP2c.175-14C>T (n.175-14C>T)
c.226-14C>T (n.226-14C>T)
c.319-14C>T (n.319-14C>T)
c.8370+156347G>A (n.8370+156347G>A)
 dbSNP
2g.108929393G>CCA2660611283EDAR,RANBP2c.175-14C>G (n.175-14C>G)
c.226-14C>G (n.226-14C>G)
c.319-14C>G (n.319-14C>G)
c.8370+156347G>C (n.8370+156347G>C)
 gnomAD v4
2g.108929394dupCA2842691039EDAR,RANBP2c.175-15dup (n.175-15dup)
c.226-15dup (n.226-15dup)
c.319-15dup (n.319-15dup)
c.8370+156348dup (n.8370+156348dup)
2g.108929395G>ACA1825164EDAR,RANBP2c.175-16C>T (n.175-16C>T)
c.226-16C>T (n.226-16C>T)
c.319-16C>T (n.319-16C>T)
c.8370+156349G>A (n.8370+156349G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929395G>CCA54012153EDAR,RANBP2c.175-16C>G (n.175-16C>G)
c.226-16C>G (n.226-16C>G)
c.319-16C>G (n.319-16C>G)
c.8370+156349G>C (n.8370+156349G>C)
 dbSNP gnomAD v4
2g.108929395G=CA1278368610EDAR,RANBP2c.175-16C= (n.175-16C=)
c.226-16C= (n.226-16C=)
c.319-16C= (n.319-16C=)
c.8370+156349G= (n.8370+156349G=)
2g.108929398C=CA1278368611EDAR,RANBP2c.175-19G= (n.175-19G=)
c.226-19G= (n.226-19G=)
c.319-19G= (n.319-19G=)
c.8370+156352C= (n.8370+156352C=)
2g.108929398C>GCA2577065741EDAR,RANBP2c.175-19G>C (n.175-19G>C)
c.226-19G>C (n.226-19G>C)
c.319-19G>C (n.319-19G>C)
c.8370+156352C>G (n.8370+156352C>G)
2g.108929398C>TCA54012154EDAR,RANBP2c.175-19G>A (n.175-19G>A)
c.226-19G>A (n.226-19G>A)
c.319-19G>A (n.319-19G>A)
c.8370+156352C>T (n.8370+156352C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108929398_108929399delinsCACA1278368612EDAR,RANBP2c.175-20_175-19delinsTG (n.175-20_175-19delinsTG)
c.226-20_226-19delinsTG (n.226-20_226-19delinsTG)
c.319-20_319-19delinsTG (n.319-20_319-19delinsTG)
c.8370+156352_8370+156353delinsCA (n.8370+156352_8370+156353delinsCA)
2g.108929399delCA754906600EDAR,RANBP2c.175-20del (n.175-20del)
c.226-20del (n.226-20del)
c.319-20del (n.319-20del)
c.8370+156353del (n.8370+156353del)
 dbSNP gnomAD v3 gnomAD v4
2g.108929399A>GCA2660611284EDAR,RANBP2c.175-20T>C (n.175-20T>C)
c.226-20T>C (n.226-20T>C)
c.319-20T>C (n.319-20T>C)
c.8370+156353A>G (n.8370+156353A>G)
 gnomAD v4
2g.108929399dupCA2577065742EDAR,RANBP2c.175-20dup (n.175-20dup)
c.226-20dup (n.226-20dup)
c.319-20dup (n.319-20dup)
c.8370+156353dup (n.8370+156353dup)
2g.108929400G>ACA2660611285EDAR,RANBP2c.175-21C>T (n.175-21C>T)
c.226-21C>T (n.226-21C>T)
c.319-21C>T (n.319-21C>T)
c.8370+156354G>A (n.8370+156354G>A)
 gnomAD v4
2g.108929400G>CCA54012155EDAR,RANBP2c.175-21C>G (n.175-21C>G)
c.226-21C>G (n.226-21C>G)
c.319-21C>G (n.319-21C>G)
c.8370+156354G>C (n.8370+156354G>C)
 dbSNP gnomAD v4
2g.108929400G=CA1278368613EDAR,RANBP2c.175-21C= (n.175-21C=)
c.226-21C= (n.226-21C=)
c.319-21C= (n.319-21C=)
c.8370+156354G= (n.8370+156354G=)
2g.108929401G>ACA2660611286EDAR,RANBP2c.175-22C>T (n.175-22C>T)
c.226-22C>T (n.226-22C>T)
c.319-22C>T (n.319-22C>T)
c.8370+156355G>A (n.8370+156355G>A)
 gnomAD v4
2g.108929401G>TCA646689441EDAR,RANBP2c.175-22C>A (n.175-22C>A)
c.226-22C>A (n.226-22C>A)
c.319-22C>A (n.319-22C>A)
c.8370+156355G>T (n.8370+156355G>T)
 COSMIC
2g.108929402G>ACA2542730516EDAR,RANBP2c.175-23C>T (n.175-23C>T)
c.226-23C>T (n.226-23C>T)
c.319-23C>T (n.319-23C>T)
c.8370+156356G>A (n.8370+156356G>A)
 gnomAD v4
2g.108929403G>CCA754906604EDAR,RANBP2c.175-24C>G (n.175-24C>G)
c.226-24C>G (n.226-24C>G)
c.319-24C>G (n.319-24C>G)
c.8370+156357G>C (n.8370+156357G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.108929403G=CA1278368614EDAR,RANBP2c.175-24C= (n.175-24C=)
c.226-24C= (n.226-24C=)
c.319-24C= (n.319-24C=)
c.8370+156357G= (n.8370+156357G=)
2g.108929403G>TCA1825165EDAR,RANBP2c.175-24C>A (n.175-24C>A)
c.226-24C>A (n.226-24C>A)
c.319-24C>A (n.319-24C>A)
c.8370+156357G>T (n.8370+156357G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929404A=CA1278368615EDAR,RANBP2c.175-25T= (n.175-25T=)
c.226-25T= (n.226-25T=)
c.319-25T= (n.319-25T=)
c.8370+156358A= (n.8370+156358A=)
2g.108929404A>GCA1825166EDAR,RANBP2c.175-25T>C (n.175-25T>C)
c.226-25T>C (n.226-25T>C)
c.319-25T>C (n.319-25T>C)
c.8370+156358A>G (n.8370+156358A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929407_108929408delCA2660611287EDAR,RANBP2c.175-26_175-25del (n.175-26_175-25del)
c.226-26_226-25del (n.226-26_226-25del)
c.319-26_319-25del (n.319-26_319-25del)
c.8370+156361_8370+156362del (n.8370+156361_8370+156362del)
 gnomAD v4
2g.108929405C=CA1278368616EDAR,RANBP2c.175-26G= (n.175-26G=)
c.226-26G= (n.226-26G=)
c.319-26G= (n.319-26G=)
c.8370+156359C= (n.8370+156359C=)
2g.108929405C>TCA1278368617EDAR,RANBP2c.175-26G>A (n.175-26G>A)
c.226-26G>A (n.226-26G>A)
c.319-26G>A (n.319-26G>A)
c.8370+156359C>T (n.8370+156359C>T)
 dbSNP gnomAD v4
2g.108929407C=CA1278368618EDAR,RANBP2c.175-28G= (n.175-28G=)
c.226-28G= (n.226-28G=)
c.319-28G= (n.319-28G=)
c.8370+156361C= (n.8370+156361C=)
2g.108929408_108929409insAACA1278368619EDAR,RANBP2c.175-29_175-28insTT (n.175-29_175-28insTT)
c.226-29_226-28insTT (n.226-29_226-28insTT)
c.319-29_319-28insTT (n.319-29_319-28insTT)
c.8370+156362_8370+156363insAA (n.8370+156362_8370+156363insAA)
 dbSNP
2g.108929409G=CA1278368620EDAR,RANBP2c.175-30C= (n.175-30C=)
c.226-30C= (n.226-30C=)
c.319-30C= (n.319-30C=)
c.8370+156363G= (n.8370+156363G=)
2g.108929409G>TCA2660611288EDAR,RANBP2c.175-30C>A (n.175-30C>A)
c.226-30C>A (n.226-30C>A)
c.319-30C>A (n.319-30C>A)
c.8370+156363G>T (n.8370+156363G>T)
 gnomAD v4
2g.108929409_108929410insACTCA1278368621EDAR,RANBP2c.175-31_175-30insAGT (n.175-31_175-30insAGT)
c.226-31_226-30insAGT (n.226-31_226-30insAGT)
c.319-31_319-30insAGT (n.319-31_319-30insAGT)
c.8370+156363_8370+156364insACT (n.8370+156363_8370+156364insACT)
 dbSNP
2g.108929410G>ACA1825167EDAR,RANBP2c.175-31C>T (n.175-31C>T)
c.226-31C>T (n.226-31C>T)
c.319-31C>T (n.319-31C>T)
c.8370+156364G>A (n.8370+156364G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108929410G=CA1278368622EDAR,RANBP2c.175-31C= (n.175-31C=)
c.226-31C= (n.226-31C=)
c.319-31C= (n.319-31C=)
c.8370+156364G= (n.8370+156364G=)
2g.108929411T>GCA1278368623EDAR,RANBP2c.175-32A>C (n.175-32A>C)
c.226-32A>C (n.226-32A>C)
c.319-32A>C (n.319-32A>C)
c.8370+156365T>G (n.8370+156365T>G)
 dbSNP
2g.108929411T=CA1278368624EDAR,RANBP2c.175-32A= (n.175-32A=)
c.226-32A= (n.226-32A=)
c.319-32A= (n.319-32A=)
c.8370+156365T= (n.8370+156365T=)
2g.108929412G>CCA1278368626EDAR,RANBP2c.175-33C>G (n.175-33C>G)
c.226-33C>G (n.226-33C>G)
c.319-33C>G (n.319-33C>G)
c.8370+156366G>C (n.8370+156366G>C)
 dbSNP gnomAD v4
2g.108929412G=CA1278368625EDAR,RANBP2c.175-33C= (n.175-33C=)
c.226-33C= (n.226-33C=)
c.319-33C= (n.319-33C=)
c.8370+156366G= (n.8370+156366G=)
2g.108929412G>TCA2838396701EDAR,RANBP2c.175-33C>A (n.175-33C>A)
c.226-33C>A (n.226-33C>A)
c.319-33C>A (n.319-33C>A)
c.8370+156366G>T (n.8370+156366G>T)
2g.108929414G>TCA2660611289EDAR,RANBP2c.175-35C>A (n.175-35C>A)
c.226-35C>A (n.226-35C>A)
c.319-35C>A (n.319-35C>A)
c.8370+156368G>T (n.8370+156368G>T)
 gnomAD v4
2g.108929415T>ACA2660611290EDAR,RANBP2c.175-36A>T (n.175-36A>T)
c.226-36A>T (n.226-36A>T)
c.319-36A>T (n.319-36A>T)
c.8370+156369T>A (n.8370+156369T>A)
 gnomAD v4
2g.108929415T>CCA54012156EDAR,RANBP2c.175-36A>G (n.175-36A>G)
c.226-36A>G (n.226-36A>G)
c.319-36A>G (n.319-36A>G)
c.8370+156369T>C (n.8370+156369T>C)
 dbSNP gnomAD v4
2g.108929415T>GCA535294253EDAR,RANBP2c.175-36A>C (n.175-36A>C)
c.226-36A>C (n.226-36A>C)
c.319-36A>C (n.319-36A>C)
c.8370+156369T>G (n.8370+156369T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108929415T=CA1278368627EDAR,RANBP2c.175-36A= (n.175-36A=)
c.226-36A= (n.226-36A=)
c.319-36A= (n.319-36A=)
c.8370+156369T= (n.8370+156369T=)
2g.108929416G>ACA535294255EDAR,RANBP2c.175-37C>T (n.175-37C>T)
c.226-37C>T (n.226-37C>T)
c.319-37C>T (n.319-37C>T)
c.8370+156370G>A (n.8370+156370G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108929416G=CA1278368628EDAR,RANBP2c.175-37C= (n.175-37C=)
c.226-37C= (n.226-37C=)
c.319-37C= (n.319-37C=)
c.8370+156370G= (n.8370+156370G=)
2g.108929416G>TCA2660611291EDAR,RANBP2c.175-37C>A (n.175-37C>A)
c.226-37C>A (n.226-37C>A)
c.319-37C>A (n.319-37C>A)
c.8370+156370G>T (n.8370+156370G>T)
 gnomAD v4
2g.108929417C=CA1278368629EDAR,RANBP2c.175-38G= (n.175-38G=)
c.226-38G= (n.226-38G=)
c.319-38G= (n.319-38G=)
c.8370+156371C= (n.8370+156371C=)
2g.108929417C>TCA1825168EDAR,RANBP2c.175-38G>A (n.175-38G>A)
c.226-38G>A (n.226-38G>A)
c.319-38G>A (n.319-38G>A)
c.8370+156371C>T (n.8370+156371C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929418A=CA1278368630EDAR,RANBP2c.175-39T= (n.175-39T=)
c.226-39T= (n.226-39T=)
c.319-39T= (n.319-39T=)
c.8370+156372A= (n.8370+156372A=)
2g.108929418A>CCA535294261EDAR,RANBP2c.175-39T>G (n.175-39T>G)
c.226-39T>G (n.226-39T>G)
c.319-39T>G (n.319-39T>G)
c.8370+156372A>C (n.8370+156372A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108929418A>GCA2577065743EDAR,RANBP2c.175-39T>C (n.175-39T>C)
c.226-39T>C (n.226-39T>C)
c.319-39T>C (n.319-39T>C)
c.8370+156372A>G (n.8370+156372A>G)
2g.108929418A>TCA2558861294EDAR,RANBP2c.175-39T>A (n.175-39T>A)
c.226-39T>A (n.226-39T>A)
c.319-39T>A (n.319-39T>A)
c.8370+156372A>T (n.8370+156372A>T)
2g.108929419G>ACA2842691040EDAR,RANBP2c.175-40C>T (n.175-40C>T)
c.226-40C>T (n.226-40C>T)
c.319-40C>T (n.319-40C>T)
c.8370+156373G>A (n.8370+156373G>A)
2g.108929419G>CCA2660611292EDAR,RANBP2c.175-40C>G (n.175-40C>G)
c.226-40C>G (n.226-40C>G)
c.319-40C>G (n.319-40C>G)
c.8370+156373G>C (n.8370+156373G>C)
 gnomAD v4

Number of alleles fetched