Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108907854C>ACA2660592521EDAR,RANBP2c.963+6G>T (n.963+6G>T)
c.1059+6G>T (n.1059+6G>T)
c.1110+6G>T (n.1110+6G>T)
c.1014+6G>T (n.1014+6G>T)
c.390+6G>T (n.390+6G>T)
c.1203+6G>T (n.1203+6G>T)
c.1107+6G>T (n.1107+6G>T)
c.8370+134808C>A (n.8370+134808C>A)
 gnomAD v4
2g.108907854C=CA1278358932EDAR,RANBP2c.963+6G= (n.963+6G=)
c.1059+6G= (n.1059+6G=)
c.1110+6G= (n.1110+6G=)
c.1014+6G= (n.1014+6G=)
c.390+6G= (n.390+6G=)
c.1203+6G= (n.1203+6G=)
c.1107+6G= (n.1107+6G=)
c.8370+134808C= (n.8370+134808C=)
2g.108907854C>GCA1278358931EDAR,RANBP2c.963+6G>C (n.963+6G>C)
c.1059+6G>C (n.1059+6G>C)
c.1110+6G>C (n.1110+6G>C)
c.1014+6G>C (n.1014+6G>C)
c.390+6G>C (n.390+6G>C)
c.1203+6G>C (n.1203+6G>C)
c.1107+6G>C (n.1107+6G>C)
c.8370+134808C>G (n.8370+134808C>G)
 dbSNP gnomAD v4
2g.108907854C>TCA535179964EDAR,RANBP2c.963+6G>A (n.963+6G>A)
c.1059+6G>A (n.1059+6G>A)
c.1110+6G>A (n.1110+6G>A)
c.1014+6G>A (n.1014+6G>A)
c.390+6G>A (n.390+6G>A)
c.1203+6G>A (n.1203+6G>A)
c.1107+6G>A (n.1107+6G>A)
c.8370+134808C>T (n.8370+134808C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108907857C>ACA2660592524EDAR,RANBP2c.963+3G>T (n.963+3G>T)
c.1059+3G>T (n.1059+3G>T)
c.1110+3G>T (n.1110+3G>T)
c.1014+3G>T (n.1014+3G>T)
c.390+3G>T (n.390+3G>T)
c.1203+3G>T (n.1203+3G>T)
c.1107+3G>T (n.1107+3G>T)
c.8370+134811C>A (n.8370+134811C>A)
 gnomAD v4
2g.108907857C=CA1278358933EDAR,RANBP2c.963+3G= (n.963+3G=)
c.1059+3G= (n.1059+3G=)
c.1110+3G= (n.1110+3G=)
c.1014+3G= (n.1014+3G=)
c.390+3G= (n.390+3G=)
c.1203+3G= (n.1203+3G=)
c.1107+3G= (n.1107+3G=)
c.8370+134811C= (n.8370+134811C=)
2g.108907857C>TCA1824883EDAR,RANBP2c.963+3G>A (n.963+3G>A)
c.1059+3G>A (n.1059+3G>A)
c.1110+3G>A (n.1110+3G>A)
c.1014+3G>A (n.1014+3G>A)
c.390+3G>A (n.390+3G>A)
c.1203+3G>A (n.1203+3G>A)
c.1107+3G>A (n.1107+3G>A)
c.8370+134811C>T (n.8370+134811C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907858A>CCA348050683EDAR,RANBP2c.963+2T>G (n.963+2T>G)
c.1059+2T>G (n.1059+2T>G)
c.1110+2T>G (n.1110+2T>G)
c.1014+2T>G (n.1014+2T>G)
c.390+2T>G (n.390+2T>G)
c.1203+2T>G (n.1203+2T>G)
c.1107+2T>G (n.1107+2T>G)
c.8370+134812A>C (n.8370+134812A>C)
2g.108907858A>GCA348050684EDAR,RANBP2c.963+2T>C (n.963+2T>C)
c.1059+2T>C (n.1059+2T>C)
c.1110+2T>C (n.1110+2T>C)
c.1014+2T>C (n.1014+2T>C)
c.390+2T>C (n.390+2T>C)
c.1203+2T>C (n.1203+2T>C)
c.1107+2T>C (n.1107+2T>C)
c.8370+134812A>G (n.8370+134812A>G)
2g.108907858A>TCA348050686EDAR,RANBP2c.963+2T>A (n.963+2T>A)
c.1059+2T>A (n.1059+2T>A)
c.1110+2T>A (n.1110+2T>A)
c.1014+2T>A (n.1014+2T>A)
c.390+2T>A (n.390+2T>A)
c.1203+2T>A (n.1203+2T>A)
c.1107+2T>A (n.1107+2T>A)
c.8370+134812A>T (n.8370+134812A>T)
2g.108907858dupCA2740307610EDAR,RANBP2c.963+2dup (n.963+2dup)
c.1059+2dup (n.1059+2dup)
c.1110+2dup (n.1110+2dup)
c.1014+2dup (n.1014+2dup)
c.390+2dup (n.390+2dup)
c.1203+2dup (n.1203+2dup)
c.1107+2dup (n.1107+2dup)
c.8370+134812dup (n.8370+134812dup)
2g.108907859C>ACA348050687EDAR,RANBP2c.963+1G>T (n.963+1G>T)
c.1059+1G>T (n.1059+1G>T)
c.1110+1G>T (n.1110+1G>T)
c.1014+1G>T (n.1014+1G>T)
c.390+1G>T (n.390+1G>T)
c.1203+1G>T (n.1203+1G>T)
c.1107+1G>T (n.1107+1G>T)
c.8370+134813C>A (n.8370+134813C>A)
 gnomAD v4
2g.108907859C>GCA348050689EDAR,RANBP2c.963+1G>C (n.963+1G>C)
c.1059+1G>C (n.1059+1G>C)
c.1110+1G>C (n.1110+1G>C)
c.1014+1G>C (n.1014+1G>C)
c.390+1G>C (n.390+1G>C)
c.1203+1G>C (n.1203+1G>C)
c.1107+1G>C (n.1107+1G>C)
c.8370+134813C>G (n.8370+134813C>G)
2g.108907859C>TCA348050690EDAR,RANBP2c.963+1G>A (n.963+1G>A)
c.1059+1G>A (n.1059+1G>A)
c.1110+1G>A (n.1110+1G>A)
c.1014+1G>A (n.1014+1G>A)
c.390+1G>A (n.390+1G>A)
c.1203+1G>A (n.1203+1G>A)
c.1107+1G>A (n.1107+1G>A)
c.8370+134813C>T (n.8370+134813C>T)
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 (n.8370+134814C>A)
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 (n.8370+134814C>G)
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 (n.8370+134814C>T)
 gnomAD v4
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 (n.8370+134815C>A)
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 (n.8370+134815C>G)
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 (n.8370+134815C>T)
 gnomAD v4
2g.108907862C>ACA348050696EDAR,RANBP2c.961G>T (p.Gly321Trp)
c.1057G>T (p.Gly353Trp)
c.1108G>T (p.Gly370Trp)
c.1012G>T (p.Gly338Trp)
c.388G>T (p.Gly130Trp)
c.1201G>T (p.Gly401Trp)
c.1105G>T (p.Gly369Trp)
c.8370+134816C>A (n.8370+134816C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108907862C=CA1278358934EDAR,RANBP2c.961G= (p.Gly321=)
c.1057G= (p.Gly353=)
c.1108G= (p.Gly370=)
c.1012G= (p.Gly338=)
c.388G= (p.Gly130=)
c.1201G= (p.Gly401=)
c.1105G= (p.Gly369=)
c.8370+134816C= (n.8370+134816C=)
2g.108907862C>GCA348050698EDAR,RANBP2c.961G>C (p.Gly321Arg)
c.1057G>C (p.Gly353Arg)
c.1108G>C (p.Gly370Arg)
c.1012G>C (p.Gly338Arg)
c.388G>C (p.Gly130Arg)
c.1201G>C (p.Gly401Arg)
c.1105G>C (p.Gly369Arg)
c.8370+134816C>G (n.8370+134816C>G)
2g.108907862C>TCA1824884EDAR,RANBP2c.961G>A (p.Gly321Arg)
c.1057G>A (p.Gly353Arg)
c.1108G>A (p.Gly370Arg)
c.1012G>A (p.Gly338Arg)
c.388G>A (p.Gly130Arg)
c.1201G>A (p.Gly401Arg)
c.1105G>A (p.Gly369Arg)
c.8370+134816C>T (n.8370+134816C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907863G>ACA1824885EDAR,RANBP2c.960C>T (p.Ala320=)
c.1056C>T (p.Ala352=)
c.1107C>T (p.Ala369=)
c.1011C>T (p.Ala337=)
c.387C>T (p.Ala129=)
c.1200C>T (p.Ala400=)
c.1104C>T (p.Ala368=)
c.8370+134817G>A (n.8370+134817G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907863G>CCA427911776EDAR,RANBP2c.960C>G (p.Ala320=)
c.1056C>G (p.Ala352=)
c.1107C>G (p.Ala369=)
c.1011C>G (p.Ala337=)
c.387C>G (p.Ala129=)
c.1200C>G (p.Ala400=)
c.1104C>G (p.Ala368=)
c.8370+134817G>C (n.8370+134817G>C)
2g.108907863G=CA1278358935EDAR,RANBP2c.960C= (p.Ala320=)
c.1056C= (p.Ala352=)
c.1107C= (p.Ala369=)
c.1011C= (p.Ala337=)
c.387C= (p.Ala129=)
c.1200C= (p.Ala400=)
c.1104C= (p.Ala368=)
c.8370+134817G= (n.8370+134817G=)
2g.108907863G>TCA427911777EDAR,RANBP2c.960C>A (p.Ala320=)
c.1056C>A (p.Ala352=)
c.1107C>A (p.Ala369=)
c.1011C>A (p.Ala337=)
c.387C>A (p.Ala129=)
c.1200C>A (p.Ala400=)
c.1104C>A (p.Ala368=)
c.8370+134817G>T (n.8370+134817G>T)
2g.108907864G>ACA348050701EDAR,RANBP2c.959C>T (p.Ala320Val)
c.1055C>T (p.Ala352Val)
c.1106C>T (p.Ala369Val)
c.1010C>T (p.Ala337Val)
c.386C>T (p.Ala129Val)
c.1199C>T (p.Ala400Val)
c.1103C>T (p.Ala368Val)
c.8370+134818G>A (n.8370+134818G>A)
2g.108907864G>CCA348050703EDAR,RANBP2c.959C>G (p.Ala320Gly)
c.1055C>G (p.Ala352Gly)
c.1106C>G (p.Ala369Gly)
c.1010C>G (p.Ala337Gly)
c.386C>G (p.Ala129Gly)
c.1199C>G (p.Ala400Gly)
c.1103C>G (p.Ala368Gly)
c.8370+134818G>C (n.8370+134818G>C)
2g.108907864G>TCA348050704EDAR,RANBP2c.959C>A (p.Ala320Asp)
c.1055C>A (p.Ala352Asp)
c.1106C>A (p.Ala369Asp)
c.1010C>A (p.Ala337Asp)
c.386C>A (p.Ala129Asp)
c.1199C>A (p.Ala400Asp)
c.1103C>A (p.Ala368Asp)
c.8370+134818G>T (n.8370+134818G>T)
2g.108907865C>ACA348050705EDAR,RANBP2c.958G>T (p.Ala320Ser)
c.1054G>T (p.Ala352Ser)
c.1105G>T (p.Ala369Ser)
c.1009G>T (p.Ala337Ser)
c.385G>T (p.Ala129Ser)
c.1198G>T (p.Ala400Ser)
c.1102G>T (p.Ala368Ser)
c.8370+134819C>A (n.8370+134819C>A)
 gnomAD v4
2g.108907865C>GCA348050706EDAR,RANBP2c.958G>C (p.Ala320Pro)
c.1054G>C (p.Ala352Pro)
c.1105G>C (p.Ala369Pro)
c.1009G>C (p.Ala337Pro)
c.385G>C (p.Ala129Pro)
c.1198G>C (p.Ala400Pro)
c.1102G>C (p.Ala368Pro)
c.8370+134819C>G (n.8370+134819C>G)
2g.108907865C>TCA348050708EDAR,RANBP2c.958G>A (p.Ala320Thr)
c.1054G>A (p.Ala352Thr)
c.1105G>A (p.Ala369Thr)
c.1009G>A (p.Ala337Thr)
c.385G>A (p.Ala129Thr)
c.1198G>A (p.Ala400Thr)
c.1102G>A (p.Ala368Thr)
c.8370+134819C>T (n.8370+134819C>T)
 gnomAD v4
2g.108907866T>ACA427911778EDAR,RANBP2c.957A>T (p.Ser319=)
c.1053A>T (p.Ser351=)
c.1104A>T (p.Ser368=)
c.1008A>T (p.Ser336=)
c.384A>T (p.Ser128=)
c.1197A>T (p.Ser399=)
c.1101A>T (p.Ser367=)
c.8370+134820T>A (n.8370+134820T>A)
2g.108907866T>CCA427911779EDAR,RANBP2c.957A>G (p.Ser319=)
c.1053A>G (p.Ser351=)
c.1104A>G (p.Ser368=)
c.1008A>G (p.Ser336=)
c.384A>G (p.Ser128=)
c.1197A>G (p.Ser399=)
c.1101A>G (p.Ser367=)
c.8370+134820T>C (n.8370+134820T>C)
2g.108907866T>GCA427911780EDAR,RANBP2c.957A>C (p.Ser319=)
c.1053A>C (p.Ser351=)
c.1104A>C (p.Ser368=)
c.1008A>C (p.Ser336=)
c.384A>C (p.Ser128=)
c.1197A>C (p.Ser399=)
c.1101A>C (p.Ser367=)
c.8370+134820T>G (n.8370+134820T>G)
2g.108907867G>ACA348050709EDAR,RANBP2c.956C>T (p.Ser319Leu)
c.1052C>T (p.Ser351Leu)
c.1103C>T (p.Ser368Leu)
c.1007C>T (p.Ser336Leu)
c.383C>T (p.Ser128Leu)
c.1196C>T (p.Ser399Leu)
c.1100C>T (p.Ser367Leu)
c.8370+134821G>A (n.8370+134821G>A)
 COSMIC COSMIC
2g.108907867G>CCA348050711EDAR,RANBP2c.956C>G (p.Ser319Ter)
c.1052C>G (p.Ser351Ter)
c.1103C>G (p.Ser368Ter)
c.1007C>G (p.Ser336Ter)
c.383C>G (p.Ser128Ter)
c.1196C>G (p.Ser399Ter)
c.1100C>G (p.Ser367Ter)
c.8370+134821G>C (n.8370+134821G>C)
2g.108907867G>TCA348050713EDAR,RANBP2c.956C>A (p.Ser319Ter)
c.1052C>A (p.Ser351Ter)
c.1103C>A (p.Ser368Ter)
c.1007C>A (p.Ser336Ter)
c.383C>A (p.Ser128Ter)
c.1196C>A (p.Ser399Ter)
c.1100C>A (p.Ser367Ter)
c.8370+134821G>T (n.8370+134821G>T)
2g.108907868A>CCA348050714EDAR,RANBP2c.955T>G (p.Ser319Ala)
c.1051T>G (p.Ser351Ala)
c.1102T>G (p.Ser368Ala)
c.1006T>G (p.Ser336Ala)
c.382T>G (p.Ser128Ala)
c.1195T>G (p.Ser399Ala)
c.1099T>G (p.Ser367Ala)
c.8370+134822A>C (n.8370+134822A>C)
2g.108907868A>GCA348050716EDAR,RANBP2c.955T>C (p.Ser319Pro)
c.1051T>C (p.Ser351Pro)
c.1102T>C (p.Ser368Pro)
c.1006T>C (p.Ser336Pro)
c.382T>C (p.Ser128Pro)
c.1195T>C (p.Ser399Pro)
c.1099T>C (p.Ser367Pro)
c.8370+134822A>G (n.8370+134822A>G)
2g.108907868A>TCA348050717EDAR,RANBP2c.955T>A (p.Ser319Thr)
c.1051T>A (p.Ser351Thr)
c.1102T>A (p.Ser368Thr)
c.1006T>A (p.Ser336Thr)
c.382T>A (p.Ser128Thr)
c.1195T>A (p.Ser399Thr)
c.1099T>A (p.Ser367Thr)
c.8370+134822A>T (n.8370+134822A>T)
2g.108907869C>ACA348050719EDAR,RANBP2c.954G>T (p.Lys318Asn)
c.1050G>T (p.Lys350Asn)
c.1101G>T (p.Lys367Asn)
c.1005G>T (p.Lys335Asn)
c.381G>T (p.Lys127Asn)
c.1194G>T (p.Lys398Asn)
c.1098G>T (p.Lys366Asn)
c.8370+134823C>A (n.8370+134823C>A)
2g.108907869C>GCA348050721EDAR,RANBP2c.954G>C (p.Lys318Asn)
c.1050G>C (p.Lys350Asn)
c.1101G>C (p.Lys367Asn)
c.1005G>C (p.Lys335Asn)
c.381G>C (p.Lys127Asn)
c.1194G>C (p.Lys398Asn)
c.1098G>C (p.Lys366Asn)
c.8370+134823C>G (n.8370+134823C>G)
2g.108907869C>TCA427911781EDAR,RANBP2c.954G>A (p.Lys318=)
c.1050G>A (p.Lys350=)
c.1101G>A (p.Lys367=)
c.1005G>A (p.Lys335=)
c.381G>A (p.Lys127=)
c.1194G>A (p.Lys398=)
c.1098G>A (p.Lys366=)
c.8370+134823C>T (n.8370+134823C>T)
2g.108907870T>ACA348050722EDAR,RANBP2c.953A>T (p.Lys318Met)
c.1049A>T (p.Lys350Met)
c.1100A>T (p.Lys367Met)
c.1004A>T (p.Lys335Met)
c.380A>T (p.Lys127Met)
c.1193A>T (p.Lys398Met)
c.1097A>T (p.Lys366Met)
c.8370+134824T>A (n.8370+134824T>A)
2g.108907870T>CCA348050723EDAR,RANBP2c.953A>G (p.Lys318Arg)
c.1049A>G (p.Lys350Arg)
c.1100A>G (p.Lys367Arg)
c.1004A>G (p.Lys335Arg)
c.380A>G (p.Lys127Arg)
c.1193A>G (p.Lys398Arg)
c.1097A>G (p.Lys366Arg)
c.8370+134824T>C (n.8370+134824T>C)
2g.108907870T>GCA348050726EDAR,RANBP2c.953A>C (p.Lys318Thr)
c.1049A>C (p.Lys350Thr)
c.1100A>C (p.Lys367Thr)
c.1004A>C (p.Lys335Thr)
c.380A>C (p.Lys127Thr)
c.1193A>C (p.Lys398Thr)
c.1097A>C (p.Lys366Thr)
c.8370+134824T>G (n.8370+134824T>G)
2g.108907871T>ACA348050727EDAR,RANBP2c.952A>T (p.Lys318Ter)
c.1048A>T (p.Lys350Ter)
c.1099A>T (p.Lys367Ter)
c.1003A>T (p.Lys335Ter)
c.379A>T (p.Lys127Ter)
c.1192A>T (p.Lys398Ter)
c.1096A>T (p.Lys366Ter)
c.8370+134825T>A (n.8370+134825T>A)

Number of alleles fetched