Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108907763G>ACA1034841344EDAR,RANBP2c.963+97C>T (p.=)
c.1059+97C>T (p.=)
c.1110+97C>T (p.=)
c.1014+97C>T (p.=)
c.390+97C>T (p.=)
c.1203+97C>T (p.=)
c.1107+97C>T (p.=)
c.8370+134717G>A (p.=)
2g.108907773A>TCA754960987EDAR,RANBP2c.963+87T>A (p.=)
c.1059+87T>A (p.=)
c.1110+87T>A (p.=)
c.1014+87T>A (p.=)
c.390+87T>A (p.=)
c.1203+87T>A (p.=)
c.1107+87T>A (p.=)
c.8370+134727A>T (p.=)
2g.108907774G>CCA53473093EDAR,RANBP2c.963+86C>G (p.=)
c.1059+86C>G (p.=)
c.1110+86C>G (p.=)
c.1014+86C>G (p.=)
c.390+86C>G (p.=)
c.1203+86C>G (p.=)
c.1107+86C>G (p.=)
c.8370+134728G>C (p.=)
dbSNP
2g.108907777C>GCA535179957EDAR,RANBP2c.963+83G>C (p.=)
c.1059+83G>C (p.=)
c.1110+83G>C (p.=)
c.1014+83G>C (p.=)
c.390+83G>C (p.=)
c.1203+83G>C (p.=)
c.1107+83G>C (p.=)
c.8370+134731C>G (p.=)
gnomAD
2g.108907781T>CCA754960992EDAR,RANBP2c.963+79A>G (p.=)
c.1059+79A>G (p.=)
c.1110+79A>G (p.=)
c.1014+79A>G (p.=)
c.390+79A>G (p.=)
c.1203+79A>G (p.=)
c.1107+79A>G (p.=)
c.8370+134735T>C (p.=)
2g.108907783C>ACA53473106EDAR,RANBP2c.963+77G>T (p.=)
c.1059+77G>T (p.=)
c.1110+77G>T (p.=)
c.1014+77G>T (p.=)
c.390+77G>T (p.=)
c.1203+77G>T (p.=)
c.1107+77G>T (p.=)
c.8370+134737C>A (p.=)
dbSNP gnomAD
2g.108907783C>GCA53473108EDAR,RANBP2c.963+77G>C (p.=)
c.1059+77G>C (p.=)
c.1110+77G>C (p.=)
c.1014+77G>C (p.=)
c.390+77G>C (p.=)
c.1203+77G>C (p.=)
c.1107+77G>C (p.=)
c.8370+134737C>G (p.=)
dbSNP
2g.108907783C>TCA1034841350EDAR,RANBP2c.963+77G>A (p.=)
c.1059+77G>A (p.=)
c.1110+77G>A (p.=)
c.1014+77G>A (p.=)
c.390+77G>A (p.=)
c.1203+77G>A (p.=)
c.1107+77G>A (p.=)
c.8370+134737C>T (p.=)
2g.108907785A>CCA754960998EDAR,RANBP2c.963+75T>G (p.=)
c.1059+75T>G (p.=)
c.1110+75T>G (p.=)
c.1014+75T>G (p.=)
c.390+75T>G (p.=)
c.1203+75T>G (p.=)
c.1107+75T>G (p.=)
c.8370+134739A>C (p.=)
2g.108907787A>GCA754960999EDAR,RANBP2c.963+73T>C (p.=)
c.1059+73T>C (p.=)
c.1110+73T>C (p.=)
c.1014+73T>C (p.=)
c.390+73T>C (p.=)
c.1203+73T>C (p.=)
c.1107+73T>C (p.=)
c.8370+134741A>G (p.=)
2g.108907788A>TCA53473110EDAR,RANBP2c.963+72T>A (p.=)
c.1059+72T>A (p.=)
c.1110+72T>A (p.=)
c.1014+72T>A (p.=)
c.390+72T>A (p.=)
c.1203+72T>A (p.=)
c.1107+72T>A (p.=)
c.8370+134742A>T (p.=)
dbSNP
2g.108907789G>CCA53473130EDAR,RANBP2c.963+71C>G (p.=)
c.1059+71C>G (p.=)
c.1110+71C>G (p.=)
c.1014+71C>G (p.=)
c.390+71C>G (p.=)
c.1203+71C>G (p.=)
c.1107+71C>G (p.=)
c.8370+134743G>C (p.=)
dbSNP gnomAD
2g.108907792A>GCA754961004EDAR,RANBP2c.963+68T>C (p.=)
c.1059+68T>C (p.=)
c.1110+68T>C (p.=)
c.1014+68T>C (p.=)
c.390+68T>C (p.=)
c.1203+68T>C (p.=)
c.1107+68T>C (p.=)
c.8370+134746A>G (p.=)
2g.108907794T>GCA53473135EDAR,RANBP2c.963+66A>C (p.=)
c.1059+66A>C (p.=)
c.1110+66A>C (p.=)
c.1014+66A>C (p.=)
c.390+66A>C (p.=)
c.1203+66A>C (p.=)
c.1107+66A>C (p.=)
c.8370+134748T>G (p.=)
dbSNP
2g.108907804G>ACA754961006EDAR,RANBP2c.963+56C>T (p.=)
c.1059+56C>T (p.=)
c.1110+56C>T (p.=)
c.1014+56C>T (p.=)
c.390+56C>T (p.=)
c.1203+56C>T (p.=)
c.1107+56C>T (p.=)
c.8370+134758G>A (p.=)
2g.108907806G>ACA53473136EDAR,RANBP2c.963+54C>T (p.=)
c.1059+54C>T (p.=)
c.1110+54C>T (p.=)
c.1014+54C>T (p.=)
c.390+54C>T (p.=)
c.1203+54C>T (p.=)
c.1107+54C>T (p.=)
c.8370+134760G>A (p.=)
dbSNP gnomAD
2g.108907807G>ACA53473144EDAR,RANBP2c.963+53C>T (p.=)
c.1059+53C>T (p.=)
c.1110+53C>T (p.=)
c.1014+53C>T (p.=)
c.390+53C>T (p.=)
c.1203+53C>T (p.=)
c.1107+53C>T (p.=)
c.8370+134761G>A (p.=)
dbSNP gnomAD
2g.108907811T>GCA1824874EDAR,RANBP2c.963+49A>C (p.=)
c.1059+49A>C (p.=)
c.1110+49A>C (p.=)
c.1014+49A>C (p.=)
c.390+49A>C (p.=)
c.1203+49A>C (p.=)
c.1107+49A>C (p.=)
c.8370+134765T>G (p.=)
dbSNP ExAC gnomAD
2g.108907819C>ACA754961010EDAR,RANBP2c.963+41G>T (p.=)
c.1059+41G>T (p.=)
c.1110+41G>T (p.=)
c.1014+41G>T (p.=)
c.390+41G>T (p.=)
c.1203+41G>T (p.=)
c.1107+41G>T (p.=)
c.8370+134773C>A (p.=)
2g.108907820C>TCA1824875EDAR,RANBP2c.963+40G>A (p.=)
c.1059+40G>A (p.=)
c.1110+40G>A (p.=)
c.1014+40G>A (p.=)
c.390+40G>A (p.=)
c.1203+40G>A (p.=)
c.1107+40G>A (p.=)
c.8370+134774C>T (p.=)
dbSNP ExAC gnomAD
2g.108907822C>ACA1824876EDAR,RANBP2c.963+38G>T (p.=)
c.1059+38G>T (p.=)
c.1110+38G>T (p.=)
c.1014+38G>T (p.=)
c.390+38G>T (p.=)
c.1203+38G>T (p.=)
c.1107+38G>T (p.=)
c.8370+134776C>A (p.=)
dbSNP ExAC gnomAD
2g.108907823A>GCA1824877EDAR,RANBP2c.963+37T>C (p.=)
c.1059+37T>C (p.=)
c.1110+37T>C (p.=)
c.1014+37T>C (p.=)
c.390+37T>C (p.=)
c.1203+37T>C (p.=)
c.1107+37T>C (p.=)
c.8370+134777A>G (p.=)
dbSNP ExAC gnomAD
2g.108907825C>GCA535179958EDAR,RANBP2c.963+35G>C (p.=)
c.1059+35G>C (p.=)
c.1110+35G>C (p.=)
c.1014+35G>C (p.=)
c.390+35G>C (p.=)
c.1203+35G>C (p.=)
c.1107+35G>C (p.=)
c.8370+134779C>G (p.=)
gnomAD
2g.108907827C>GCA1824878EDAR,RANBP2c.963+33G>C (p.=)
c.1059+33G>C (p.=)
c.1110+33G>C (p.=)
c.1014+33G>C (p.=)
c.390+33G>C (p.=)
c.1203+33G>C (p.=)
c.1107+33G>C (p.=)
c.8370+134781C>G (p.=)
dbSNP ExAC gnomAD
2g.108907829C>TCA535179959EDAR,RANBP2c.963+31G>A (p.=)
c.1059+31G>A (p.=)
c.1110+31G>A (p.=)
c.1014+31G>A (p.=)
c.390+31G>A (p.=)
c.1203+31G>A (p.=)
c.1107+31G>A (p.=)
c.8370+134783C>T (p.=)
gnomAD
2g.108907831G>ACA53473194EDAR,RANBP2c.963+29C>T (p.=)
c.1059+29C>T (p.=)
c.1110+29C>T (p.=)
c.1014+29C>T (p.=)
c.390+29C>T (p.=)
c.1203+29C>T (p.=)
c.1107+29C>T (p.=)
c.8370+134785G>A (p.=)
dbSNP gnomAD
2g.108907832C>TCA754961024EDAR,RANBP2c.963+28G>A (p.=)
c.1059+28G>A (p.=)
c.1110+28G>A (p.=)
c.1014+28G>A (p.=)
c.390+28G>A (p.=)
c.1203+28G>A (p.=)
c.1107+28G>A (p.=)
c.8370+134786C>T (p.=)
2g.108907838A>GCA1824879EDAR,RANBP2c.963+22T>C (p.=)
c.1059+22T>C (p.=)
c.1110+22T>C (p.=)
c.1014+22T>C (p.=)
c.390+22T>C (p.=)
c.1203+22T>C (p.=)
c.1107+22T>C (p.=)
c.8370+134792A>G (p.=)
dbSNP ExAC gnomAD
2g.108907840G>ACA1034841368EDAR,RANBP2c.963+20C>T (p.=)
c.1059+20C>T (p.=)
c.1110+20C>T (p.=)
c.1014+20C>T (p.=)
c.390+20C>T (p.=)
c.1203+20C>T (p.=)
c.1107+20C>T (p.=)
c.8370+134794G>A (p.=)
2g.108907841G>ACA535179960EDAR,RANBP2c.963+19C>T (p.=)
c.1059+19C>T (p.=)
c.1110+19C>T (p.=)
c.1014+19C>T (p.=)
c.390+19C>T (p.=)
c.1203+19C>T (p.=)
c.1107+19C>T (p.=)
c.8370+134795G>A (p.=)
gnomAD
2g.108907842C>ACA1824880EDAR,RANBP2c.963+18G>T (p.=)
c.1059+18G>T (p.=)
c.1110+18G>T (p.=)
c.1014+18G>T (p.=)
c.390+18G>T (p.=)
c.1203+18G>T (p.=)
c.1107+18G>T (p.=)
c.8370+134796C>A (p.=)
dbSNP ExAC gnomAD
2g.108907844C>TCA1824881EDAR,RANBP2c.963+16G>A (p.=)
c.1059+16G>A (p.=)
c.1110+16G>A (p.=)
c.1014+16G>A (p.=)
c.390+16G>A (p.=)
c.1203+16G>A (p.=)
c.1107+16G>A (p.=)
c.8370+134798C>T (p.=)
dbSNP ExAC gnomAD
2g.108907845C>TCA535179961EDAR,RANBP2c.963+15G>A (p.=)
c.1059+15G>A (p.=)
c.1110+15G>A (p.=)
c.1014+15G>A (p.=)
c.390+15G>A (p.=)
c.1203+15G>A (p.=)
c.1107+15G>A (p.=)
c.8370+134799C>T (p.=)
gnomAD
2g.108907846T>CCA535179962EDAR,RANBP2c.963+14A>G (p.=)
c.1059+14A>G (p.=)
c.1110+14A>G (p.=)
c.1014+14A>G (p.=)
c.390+14A>G (p.=)
c.1203+14A>G (p.=)
c.1107+14A>G (p.=)
c.8370+134800T>C (p.=)
gnomAD
2g.108907847G>ACA1824882EDAR,RANBP2c.963+13C>T (p.=)
c.1059+13C>T (p.=)
c.1110+13C>T (p.=)
c.1014+13C>T (p.=)
c.390+13C>T (p.=)
c.1203+13C>T (p.=)
c.1107+13C>T (p.=)
c.8370+134801G>A (p.=)
dbSNP ExAC gnomAD
2g.108907852A>TCA535179963EDAR,RANBP2c.963+8T>A (p.=)
c.1059+8T>A (p.=)
c.1110+8T>A (p.=)
c.1014+8T>A (p.=)
c.390+8T>A (p.=)
c.1203+8T>A (p.=)
c.1107+8T>A (p.=)
c.8370+134806A>T (p.=)
gnomAD
2g.108907854C>TCA535179964EDAR,RANBP2c.963+6G>A (p.=)
c.1059+6G>A (p.=)
c.1110+6G>A (p.=)
c.1014+6G>A (p.=)
c.390+6G>A (p.=)
c.1203+6G>A (p.=)
c.1107+6G>A (p.=)
c.8370+134808C>T (p.=)
gnomAD
2g.108907857C>TCA1824883EDAR,RANBP2c.963+3G>A (p.=)
c.1059+3G>A (p.=)
c.1110+3G>A (p.=)
c.1014+3G>A (p.=)
c.390+3G>A (p.=)
c.1203+3G>A (p.=)
c.1107+3G>A (p.=)
c.8370+134811C>T (p.=)
dbSNP ExAC gnomAD
2g.108907858A>CCA348050683EDAR,RANBP2c.963+2T>G (p.=)
c.1059+2T>G (p.=)
c.1110+2T>G (p.=)
c.1014+2T>G (p.=)
c.390+2T>G (p.=)
c.1203+2T>G (p.=)
c.1107+2T>G (p.=)
c.8370+134812A>C (p.=)
2g.108907858A>GCA348050684EDAR,RANBP2c.963+2T>C (p.=)
c.1059+2T>C (p.=)
c.1110+2T>C (p.=)
c.1014+2T>C (p.=)
c.390+2T>C (p.=)
c.1203+2T>C (p.=)
c.1107+2T>C (p.=)
c.8370+134812A>G (p.=)
2g.108907858A>TCA348050686EDAR,RANBP2c.963+2T>A (p.=)
c.1059+2T>A (p.=)
c.1110+2T>A (p.=)
c.1014+2T>A (p.=)
c.390+2T>A (p.=)
c.1203+2T>A (p.=)
c.1107+2T>A (p.=)
c.8370+134812A>T (p.=)
2g.108907859C>ACA348050687EDAR,RANBP2c.963+1G>T (p.=)
c.1059+1G>T (p.=)
c.1110+1G>T (p.=)
c.1014+1G>T (p.=)
c.390+1G>T (p.=)
c.1203+1G>T (p.=)
c.1107+1G>T (p.=)
c.8370+134813C>A (p.=)
2g.108907859C>GCA348050689EDAR,RANBP2c.963+1G>C (p.=)
c.1059+1G>C (p.=)
c.1110+1G>C (p.=)
c.1014+1G>C (p.=)
c.390+1G>C (p.=)
c.1203+1G>C (p.=)
c.1107+1G>C (p.=)
c.8370+134813C>G (p.=)
2g.108907859C>TCA348050690EDAR,RANBP2c.963+1G>A (p.=)
c.1059+1G>A (p.=)
c.1110+1G>A (p.=)
c.1014+1G>A (p.=)
c.390+1G>A (p.=)
c.1203+1G>A (p.=)
c.1107+1G>A (p.=)
c.8370+134813C>T (p.=)
2g.108907860C>ACA427911773EDAR,RANBP2c.963G>T (p.Gly321=)
c.1059G>T (p.Gly353=)
c.1110G>T (p.Gly370=)
c.1014G>T (p.Gly338=)
c.390G>T (p.Gly130=)
c.1203G>T (p.Gly401=)
c.1107G>T (p.Gly369=)
c.8370+134814C>A (p.=)
2g.108907860C>GCA427911774EDAR,RANBP2c.963G>C (p.Gly321=)
c.1059G>C (p.Gly353=)
c.1110G>C (p.Gly370=)
c.1014G>C (p.Gly338=)
c.390G>C (p.Gly130=)
c.1203G>C (p.Gly401=)
c.1107G>C (p.Gly369=)
c.8370+134814C>G (p.=)
2g.108907860C>TCA427911775EDAR,RANBP2c.963G>A (p.Gly321=)
c.1059G>A (p.Gly353=)
c.1110G>A (p.Gly370=)
c.1014G>A (p.Gly338=)
c.390G>A (p.Gly130=)
c.1203G>A (p.Gly401=)
c.1107G>A (p.Gly369=)
c.8370+134814C>T (p.=)
2g.108907861C>ACA348050692EDAR,RANBP2c.962G>T (p.Gly321Val)
c.1058G>T (p.Gly353Val)
c.1109G>T (p.Gly370Val)
c.1013G>T (p.Gly338Val)
c.389G>T (p.Gly130Val)
c.1202G>T (p.Gly401Val)
c.1106G>T (p.Gly369Val)
c.8370+134815C>A (p.=)
2g.108907861C>GCA348050694EDAR,RANBP2c.962G>C (p.Gly321Ala)
c.1058G>C (p.Gly353Ala)
c.1109G>C (p.Gly370Ala)
c.1013G>C (p.Gly338Ala)
c.389G>C (p.Gly130Ala)
c.1202G>C (p.Gly401Ala)
c.1106G>C (p.Gly369Ala)
c.8370+134815C>G (p.=)
2g.108907861C>TCA348050693EDAR,RANBP2c.962G>A (p.Gly321Glu)
c.1058G>A (p.Gly353Glu)
c.1109G>A (p.Gly370Glu)
c.1013G>A (p.Gly338Glu)
c.389G>A (p.Gly130Glu)
c.1202G>A (p.Gly401Glu)
c.1106G>A (p.Gly369Glu)
c.8370+134815C>T (p.=)

Number of alleles fetched