Chr Mutation (hg38) CAid Gene Transcript Linkouts
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 (p.=)
ClinVar dbSNP ExAC gnomAD
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
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 (p.=)
2g.108907871T>CCA1824886EDAR,RANBP2c.952A>G (p.Lys318Glu)
c.1048A>G (p.Lys350Glu)
c.1099A>G (p.Lys367Glu)
c.1003A>G (p.Lys335Glu)
c.379A>G (p.Lys127Glu)
c.1192A>G (p.Lys398Glu)
c.1096A>G (p.Lys366Glu)
c.8370+134825T>C (p.=)
dbSNP ExAC gnomAD
2g.108907871T>GCA348050729EDAR,RANBP2c.952A>C (p.Lys318Gln)
c.1048A>C (p.Lys350Gln)
c.1099A>C (p.Lys367Gln)
c.1003A>C (p.Lys335Gln)
c.379A>C (p.Lys127Gln)
c.1192A>C (p.Lys398Gln)
c.1096A>C (p.Lys366Gln)
c.8370+134825T>G (p.=)
2g.108907872G>ACA427911782EDAR,RANBP2c.951C>T (p.Asn317=)
c.1047C>T (p.Asn349=)
c.1098C>T (p.Asn366=)
c.1002C>T (p.Asn334=)
c.378C>T (p.Asn126=)
c.1191C>T (p.Asn397=)
c.1095C>T (p.Asn365=)
c.8370+134826G>A (p.=)
2g.108907872G>CCA348050731EDAR,RANBP2c.951C>G (p.Asn317Lys)
c.1047C>G (p.Asn349Lys)
c.1098C>G (p.Asn366Lys)
c.1002C>G (p.Asn334Lys)
c.378C>G (p.Asn126Lys)
c.1191C>G (p.Asn397Lys)
c.1095C>G (p.Asn365Lys)
c.8370+134826G>C (p.=)
2g.108907872G>TCA348050733EDAR,RANBP2c.951C>A (p.Asn317Lys)
c.1047C>A (p.Asn349Lys)
c.1098C>A (p.Asn366Lys)
c.1002C>A (p.Asn334Lys)
c.378C>A (p.Asn126Lys)
c.1191C>A (p.Asn397Lys)
c.1095C>A (p.Asn365Lys)
c.8370+134826G>T (p.=)
2g.108907873T>ACA348050735EDAR,RANBP2c.950A>T (p.Asn317Ile)
c.1046A>T (p.Asn349Ile)
c.1097A>T (p.Asn366Ile)
c.1001A>T (p.Asn334Ile)
c.377A>T (p.Asn126Ile)
c.1190A>T (p.Asn397Ile)
c.1094A>T (p.Asn365Ile)
c.8370+134827T>A (p.=)
2g.108907873T>CCA348050736EDAR,RANBP2c.950A>G (p.Asn317Ser)
c.1046A>G (p.Asn349Ser)
c.1097A>G (p.Asn366Ser)
c.1001A>G (p.Asn334Ser)
c.377A>G (p.Asn126Ser)
c.1190A>G (p.Asn397Ser)
c.1094A>G (p.Asn365Ser)
c.8370+134827T>C (p.=)
2g.108907873T>GCA348050737EDAR,RANBP2c.950A>C (p.Asn317Thr)
c.1046A>C (p.Asn349Thr)
c.1097A>C (p.Asn366Thr)
c.1001A>C (p.Asn334Thr)
c.377A>C (p.Asn126Thr)
c.1190A>C (p.Asn397Thr)
c.1094A>C (p.Asn365Thr)
c.8370+134827T>G (p.=)
2g.108907874T>ACA348050742EDAR,RANBP2c.949A>T (p.Asn317Tyr)
c.1045A>T (p.Asn349Tyr)
c.1096A>T (p.Asn366Tyr)
c.1000A>T (p.Asn334Tyr)
c.376A>T (p.Asn126Tyr)
c.1189A>T (p.Asn397Tyr)
c.1093A>T (p.Asn365Tyr)
c.8370+134828T>A (p.=)
2g.108907874T>CCA348050740EDAR,RANBP2c.949A>G (p.Asn317Asp)
c.1045A>G (p.Asn349Asp)
c.1096A>G (p.Asn366Asp)
c.1000A>G (p.Asn334Asp)
c.376A>G (p.Asn126Asp)
c.1189A>G (p.Asn397Asp)
c.1093A>G (p.Asn365Asp)
c.8370+134828T>C (p.=)
2g.108907874T>GCA348050739EDAR,RANBP2c.949A>C (p.Asn317His)
c.1045A>C (p.Asn349His)
c.1096A>C (p.Asn366His)
c.1000A>C (p.Asn334His)
c.376A>C (p.Asn126His)
c.1189A>C (p.Asn397His)
c.1093A>C (p.Asn365His)
c.8370+134828T>G (p.=)
2g.108907875G>ACA427911783EDAR,RANBP2c.948C>T (p.Ser316=)
c.1044C>T (p.Ser348=)
c.1095C>T (p.Ser365=)
c.999C>T (p.Ser333=)
c.375C>T (p.Ser125=)
c.1188C>T (p.Ser396=)
c.1092C>T (p.Ser364=)
c.8370+134829G>A (p.=)
2g.108907875G>CCA348050744EDAR,RANBP2c.948C>G (p.Ser316Arg)
c.1044C>G (p.Ser348Arg)
c.1095C>G (p.Ser365Arg)
c.999C>G (p.Ser333Arg)
c.375C>G (p.Ser125Arg)
c.1188C>G (p.Ser396Arg)
c.1092C>G (p.Ser364Arg)
c.8370+134829G>C (p.=)
2g.108907875G>TCA348050745EDAR,RANBP2c.948C>A (p.Ser316Arg)
c.1044C>A (p.Ser348Arg)
c.1095C>A (p.Ser365Arg)
c.999C>A (p.Ser333Arg)
c.375C>A (p.Ser125Arg)
c.1188C>A (p.Ser396Arg)
c.1092C>A (p.Ser364Arg)
c.8370+134829G>T (p.=)
2g.108907876C>ACA348050746EDAR,RANBP2c.947G>T (p.Ser316Ile)
c.1043G>T (p.Ser348Ile)
c.1094G>T (p.Ser365Ile)
c.998G>T (p.Ser333Ile)
c.374G>T (p.Ser125Ile)
c.1187G>T (p.Ser396Ile)
c.1091G>T (p.Ser364Ile)
c.8370+134830C>A (p.=)
2g.108907876C>GCA348050747EDAR,RANBP2c.947G>C (p.Ser316Thr)
c.1043G>C (p.Ser348Thr)
c.1094G>C (p.Ser365Thr)
c.998G>C (p.Ser333Thr)
c.374G>C (p.Ser125Thr)
c.1187G>C (p.Ser396Thr)
c.1091G>C (p.Ser364Thr)
c.8370+134830C>G (p.=)
2g.108907876C>TCA348050749EDAR,RANBP2c.947G>A (p.Ser316Asn)
c.1043G>A (p.Ser348Asn)
c.1094G>A (p.Ser365Asn)
c.998G>A (p.Ser333Asn)
c.374G>A (p.Ser125Asn)
c.1187G>A (p.Ser396Asn)
c.1091G>A (p.Ser364Asn)
c.8370+134830C>T (p.=)
2g.108907877T>ACA348050754EDAR,RANBP2c.946A>T (p.Ser316Cys)
c.1042A>T (p.Ser348Cys)
c.1093A>T (p.Ser365Cys)
c.997A>T (p.Ser333Cys)
c.373A>T (p.Ser125Cys)
c.1186A>T (p.Ser396Cys)
c.1090A>T (p.Ser364Cys)
c.8370+134831T>A (p.=)
2g.108907877T>CCA348050752EDAR,RANBP2c.946A>G (p.Ser316Gly)
c.1042A>G (p.Ser348Gly)
c.1093A>G (p.Ser365Gly)
c.997A>G (p.Ser333Gly)
c.373A>G (p.Ser125Gly)
c.1186A>G (p.Ser396Gly)
c.1090A>G (p.Ser364Gly)
c.8370+134831T>C (p.=)
gnomAD
2g.108907877T>GCA348050751EDAR,RANBP2c.946A>C (p.Ser316Arg)
c.1042A>C (p.Ser348Arg)
c.1093A>C (p.Ser365Arg)
c.997A>C (p.Ser333Arg)
c.373A>C (p.Ser125Arg)
c.1186A>C (p.Ser396Arg)
c.1090A>C (p.Ser364Arg)
c.8370+134831T>G (p.=)
2g.108907878G>ACA427911784EDAR,RANBP2c.945C>T (p.Thr315=)
c.1041C>T (p.Thr347=)
c.1092C>T (p.Thr364=)
c.996C>T (p.Thr332=)
c.372C>T (p.Thr124=)
c.1185C>T (p.Thr395=)
c.1089C>T (p.Thr363=)
c.8370+134832G>A (p.=)
2g.108907878G>CCA427911786EDAR,RANBP2c.945C>G (p.Thr315=)
c.1041C>G (p.Thr347=)
c.1092C>G (p.Thr364=)
c.996C>G (p.Thr332=)
c.372C>G (p.Thr124=)
c.1185C>G (p.Thr395=)
c.1089C>G (p.Thr363=)
c.8370+134832G>C (p.=)
2g.108907878G>TCA427911785EDAR,RANBP2c.945C>A (p.Thr315=)
c.1041C>A (p.Thr347=)
c.1092C>A (p.Thr364=)
c.996C>A (p.Thr332=)
c.372C>A (p.Thr124=)
c.1185C>A (p.Thr395=)
c.1089C>A (p.Thr363=)
c.8370+134832G>T (p.=)
2g.108907879G>ACA348050755EDAR,RANBP2c.944C>T (p.Thr315Ile)
c.1040C>T (p.Thr347Ile)
c.1091C>T (p.Thr364Ile)
c.995C>T (p.Thr332Ile)
c.371C>T (p.Thr124Ile)
c.1184C>T (p.Thr395Ile)
c.1088C>T (p.Thr363Ile)
c.8370+134833G>A (p.=)
2g.108907879G>CCA348050757EDAR,RANBP2c.944C>G (p.Thr315Ser)
c.1040C>G (p.Thr347Ser)
c.1091C>G (p.Thr364Ser)
c.995C>G (p.Thr332Ser)
c.371C>G (p.Thr124Ser)
c.1184C>G (p.Thr395Ser)
c.1088C>G (p.Thr363Ser)
c.8370+134833G>C (p.=)

Number of alleles fetched