Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108907950_108907951delCA2586969746EDAR,RANBP2c.874_875del (p.Pro292Ter)
c.970_971del (p.Pro324Ter)
c.1021_1022del (p.Pro341Ter)
c.925_926del (p.Pro309Ter)
c.301_302del (p.Pro101Ter)
c.1114_1115del (p.Pro372Ter)
c.1018_1019del (p.Pro340Ter)
c.8370+134904_8370+134905del (n.8370+134904_8370+134905del)
2g.108907949G>ACA348051017EDAR,RANBP2c.874C>T (p.Pro292Ser)
c.970C>T (p.Pro324Ser)
c.1021C>T (p.Pro341Ser)
c.925C>T (p.Pro309Ser)
c.301C>T (p.Pro101Ser)
c.1114C>T (p.Pro372Ser)
c.1018C>T (p.Pro340Ser)
c.8370+134903G>A (n.8370+134903G>A)
 gnomAD v4
2g.108907949G>CCA348051016EDAR,RANBP2c.874C>G (p.Pro292Ala)
c.970C>G (p.Pro324Ala)
c.1021C>G (p.Pro341Ala)
c.925C>G (p.Pro309Ala)
c.301C>G (p.Pro101Ala)
c.1114C>G (p.Pro372Ala)
c.1018C>G (p.Pro340Ala)
c.8370+134903G>C (n.8370+134903G>C)
2g.108907949G>TCA348051018EDAR,RANBP2c.874C>A (p.Pro292Thr)
c.970C>A (p.Pro324Thr)
c.1021C>A (p.Pro341Thr)
c.925C>A (p.Pro309Thr)
c.301C>A (p.Pro101Thr)
c.1114C>A (p.Pro372Thr)
c.1018C>A (p.Pro340Thr)
c.8370+134903G>T (n.8370+134903G>T)
 COSMIC COSMIC
2g.108907950G>ACA427911944EDAR,RANBP2c.873C>T (p.Ala291=)
c.969C>T (p.Ala323=)
c.1020C>T (p.Ala340=)
c.924C>T (p.Ala308=)
c.300C>T (p.Ala100=)
c.1113C>T (p.Ala371=)
c.1017C>T (p.Ala339=)
c.8370+134904G>A (n.8370+134904G>A)
 COSMIC COSMIC
2g.108907950G>CCA427911945EDAR,RANBP2c.873C>G (p.Ala291=)
c.969C>G (p.Ala323=)
c.1020C>G (p.Ala340=)
c.924C>G (p.Ala308=)
c.300C>G (p.Ala100=)
c.1113C>G (p.Ala371=)
c.1017C>G (p.Ala339=)
c.8370+134904G>C (n.8370+134904G>C)
2g.108907950G>TCA427911946EDAR,RANBP2c.873C>A (p.Ala291=)
c.969C>A (p.Ala323=)
c.1020C>A (p.Ala340=)
c.924C>A (p.Ala308=)
c.300C>A (p.Ala100=)
c.1113C>A (p.Ala371=)
c.1017C>A (p.Ala339=)
c.8370+134904G>T (n.8370+134904G>T)
2g.108907951G>ACA348051019EDAR,RANBP2c.872C>T (p.Ala291Val)
c.968C>T (p.Ala323Val)
c.1019C>T (p.Ala340Val)
c.923C>T (p.Ala308Val)
c.299C>T (p.Ala100Val)
c.1112C>T (p.Ala371Val)
c.1016C>T (p.Ala339Val)
c.8370+134905G>A (n.8370+134905G>A)
2g.108907951G>CCA348051020EDAR,RANBP2c.872C>G (p.Ala291Gly)
c.968C>G (p.Ala323Gly)
c.1019C>G (p.Ala340Gly)
c.923C>G (p.Ala308Gly)
c.299C>G (p.Ala100Gly)
c.1112C>G (p.Ala371Gly)
c.1016C>G (p.Ala339Gly)
c.8370+134905G>C (n.8370+134905G>C)
2g.108907951G>TCA348051021EDAR,RANBP2c.872C>A (p.Ala291Asp)
c.968C>A (p.Ala323Asp)
c.1019C>A (p.Ala340Asp)
c.923C>A (p.Ala308Asp)
c.299C>A (p.Ala100Asp)
c.1112C>A (p.Ala371Asp)
c.1016C>A (p.Ala339Asp)
c.8370+134905G>T (n.8370+134905G>T)
 dbSNP
2g.108907952C>ACA1824898EDAR,RANBP2c.871G>T (p.Ala291Ser)
c.967G>T (p.Ala323Ser)
c.1018G>T (p.Ala340Ser)
c.922G>T (p.Ala308Ser)
c.298G>T (p.Ala100Ser)
c.1111G>T (p.Ala371Ser)
c.1015G>T (p.Ala339Ser)
c.8370+134906C>A (n.8370+134906C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907952C=CA1278358966EDAR,RANBP2c.871G= (p.Ala291=)
c.967G= (p.Ala323=)
c.1018G= (p.Ala340=)
c.922G= (p.Ala308=)
c.298G= (p.Ala100=)
c.1111G= (p.Ala371=)
c.1015G= (p.Ala339=)
c.8370+134906C= (n.8370+134906C=)
2g.108907952C>GCA348051022EDAR,RANBP2c.871G>C (p.Ala291Pro)
c.967G>C (p.Ala323Pro)
c.1018G>C (p.Ala340Pro)
c.922G>C (p.Ala308Pro)
c.298G>C (p.Ala100Pro)
c.1111G>C (p.Ala371Pro)
c.1015G>C (p.Ala339Pro)
c.8370+134906C>G (n.8370+134906C>G)
2g.108907952C>TCA1824899EDAR,RANBP2c.871G>A (p.Ala291Thr)
c.967G>A (p.Ala323Thr)
c.1018G>A (p.Ala340Thr)
c.922G>A (p.Ala308Thr)
c.298G>A (p.Ala100Thr)
c.1111G>A (p.Ala371Thr)
c.1015G>A (p.Ala339Thr)
c.8370+134906C>T (n.8370+134906C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907953G>ACA1824900EDAR,RANBP2c.870C>T (p.Pro290=)
c.966C>T (p.Pro322=)
c.1017C>T (p.Pro339=)
c.921C>T (p.Pro307=)
c.297C>T (p.Pro99=)
c.1110C>T (p.Pro370=)
c.1014C>T (p.Pro338=)
c.8370+134907G>A (n.8370+134907G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907953G>CCA427911947EDAR,RANBP2c.870C>G (p.Pro290=)
c.966C>G (p.Pro322=)
c.1017C>G (p.Pro339=)
c.921C>G (p.Pro307=)
c.297C>G (p.Pro99=)
c.1110C>G (p.Pro370=)
c.1014C>G (p.Pro338=)
c.8370+134907G>C (n.8370+134907G>C)
2g.108907953G=CA1278358967EDAR,RANBP2c.870C= (p.Pro290=)
c.966C= (p.Pro322=)
c.1017C= (p.Pro339=)
c.921C= (p.Pro307=)
c.297C= (p.Pro99=)
c.1110C= (p.Pro370=)
c.1014C= (p.Pro338=)
c.8370+134907G= (n.8370+134907G=)
2g.108907953G>TCA427911948EDAR,RANBP2c.870C>A (p.Pro290=)
c.966C>A (p.Pro322=)
c.1017C>A (p.Pro339=)
c.921C>A (p.Pro307=)
c.297C>A (p.Pro99=)
c.1110C>A (p.Pro370=)
c.1014C>A (p.Pro338=)
c.8370+134907G>T (n.8370+134907G>T)
2g.108907954G>ACA348051023EDAR,RANBP2c.869C>T (p.Pro290Leu)
c.965C>T (p.Pro322Leu)
c.1016C>T (p.Pro339Leu)
c.920C>T (p.Pro307Leu)
c.296C>T (p.Pro99Leu)
c.1109C>T (p.Pro370Leu)
c.1013C>T (p.Pro338Leu)
c.8370+134908G>A (n.8370+134908G>A)
2g.108907954G>CCA348051024EDAR,RANBP2c.869C>G (p.Pro290Arg)
c.965C>G (p.Pro322Arg)
c.1016C>G (p.Pro339Arg)
c.920C>G (p.Pro307Arg)
c.296C>G (p.Pro99Arg)
c.1109C>G (p.Pro370Arg)
c.1013C>G (p.Pro338Arg)
c.8370+134908G>C (n.8370+134908G>C)
2g.108907954G>TCA348051025EDAR,RANBP2c.869C>A (p.Pro290His)
c.965C>A (p.Pro322His)
c.1016C>A (p.Pro339His)
c.920C>A (p.Pro307His)
c.296C>A (p.Pro99His)
c.1109C>A (p.Pro370His)
c.1013C>A (p.Pro338His)
c.8370+134908G>T (n.8370+134908G>T)
2g.108907955G>ACA348051026EDAR,RANBP2c.868C>T (p.Pro290Ser)
c.964C>T (p.Pro322Ser)
c.1015C>T (p.Pro339Ser)
c.919C>T (p.Pro307Ser)
c.295C>T (p.Pro99Ser)
c.1108C>T (p.Pro370Ser)
c.1012C>T (p.Pro338Ser)
c.8370+134909G>A (n.8370+134909G>A)
2g.108907955G>CCA348051027EDAR,RANBP2c.868C>G (p.Pro290Ala)
c.964C>G (p.Pro322Ala)
c.1015C>G (p.Pro339Ala)
c.919C>G (p.Pro307Ala)
c.295C>G (p.Pro99Ala)
c.1108C>G (p.Pro370Ala)
c.1012C>G (p.Pro338Ala)
c.8370+134909G>C (n.8370+134909G>C)
2g.108907955G>TCA348051028EDAR,RANBP2c.868C>A (p.Pro290Thr)
c.964C>A (p.Pro322Thr)
c.1015C>A (p.Pro339Thr)
c.919C>A (p.Pro307Thr)
c.295C>A (p.Pro99Thr)
c.1108C>A (p.Pro370Thr)
c.1012C>A (p.Pro338Thr)
c.8370+134909G>T (n.8370+134909G>T)
 gnomAD v4
2g.108907956C>ACA348051029EDAR,RANBP2c.867G>T (p.Glu289Asp)
c.963G>T (p.Glu321Asp)
c.1014G>T (p.Glu338Asp)
c.918G>T (p.Glu306Asp)
c.294G>T (p.Glu98Asp)
c.1107G>T (p.Glu369Asp)
c.1011G>T (p.Glu337Asp)
c.8370+134910C>A (n.8370+134910C>A)
2g.108907956C=CA1278358968EDAR,RANBP2c.867G= (p.Glu289=)
c.963G= (p.Glu321=)
c.1014G= (p.Glu338=)
c.918G= (p.Glu306=)
c.294G= (p.Glu98=)
c.1107G= (p.Glu369=)
c.1011G= (p.Glu337=)
c.8370+134910C= (n.8370+134910C=)
2g.108907956C>GCA348051030EDAR,RANBP2c.867G>C (p.Glu289Asp)
c.963G>C (p.Glu321Asp)
c.1014G>C (p.Glu338Asp)
c.918G>C (p.Glu306Asp)
c.294G>C (p.Glu98Asp)
c.1107G>C (p.Glu369Asp)
c.1011G>C (p.Glu337Asp)
c.8370+134910C>G (n.8370+134910C>G)
2g.108907956C>TCA427911949EDAR,RANBP2c.867G>A (p.Glu289=)
c.963G>A (p.Glu321=)
c.1014G>A (p.Glu338=)
c.918G>A (p.Glu306=)
c.294G>A (p.Glu98=)
c.1107G>A (p.Glu369=)
c.1011G>A (p.Glu337=)
c.8370+134910C>T (n.8370+134910C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108907959_108907961delCA2577065589EDAR,RANBP2c.865_867del (p.Glu289del)
c.961_963del (p.Glu321del)
c.1012_1014del (p.Glu338del)
c.916_918del (p.Glu306del)
c.292_294del (p.Glu98del)
c.1105_1107del (p.Glu369del)
c.1009_1011del (p.Glu337del)
c.8370+134913_8370+134915del (n.8370+134913_8370+134915del)
2g.108907957T>ACA348051031EDAR,RANBP2c.866A>T (p.Glu289Val)
c.962A>T (p.Glu321Val)
c.1013A>T (p.Glu338Val)
c.917A>T (p.Glu306Val)
c.293A>T (p.Glu98Val)
c.1106A>T (p.Glu369Val)
c.1010A>T (p.Glu337Val)
c.8370+134911T>A (n.8370+134911T>A)
2g.108907957T>CCA348051032EDAR,RANBP2c.866A>G (p.Glu289Gly)
c.962A>G (p.Glu321Gly)
c.1013A>G (p.Glu338Gly)
c.917A>G (p.Glu306Gly)
c.293A>G (p.Glu98Gly)
c.1106A>G (p.Glu369Gly)
c.1010A>G (p.Glu337Gly)
c.8370+134911T>C (n.8370+134911T>C)
2g.108907957T>GCA348051033EDAR,RANBP2c.866A>C (p.Glu289Ala)
c.962A>C (p.Glu321Ala)
c.1013A>C (p.Glu338Ala)
c.917A>C (p.Glu306Ala)
c.293A>C (p.Glu98Ala)
c.1106A>C (p.Glu369Ala)
c.1010A>C (p.Glu337Ala)
c.8370+134911T>G (n.8370+134911T>G)
2g.108907958C>ACA348051034EDAR,RANBP2c.865G>T (p.Glu289Ter)
c.961G>T (p.Glu321Ter)
c.1012G>T (p.Glu338Ter)
c.916G>T (p.Glu306Ter)
c.292G>T (p.Glu98Ter)
c.1105G>T (p.Glu369Ter)
c.1009G>T (p.Glu337Ter)
c.8370+134912C>A (n.8370+134912C>A)
2g.108907958C>GCA348051035EDAR,RANBP2c.865G>C (p.Glu289Gln)
c.961G>C (p.Glu321Gln)
c.1012G>C (p.Glu338Gln)
c.916G>C (p.Glu306Gln)
c.292G>C (p.Glu98Gln)
c.1105G>C (p.Glu369Gln)
c.1009G>C (p.Glu337Gln)
c.8370+134912C>G (n.8370+134912C>G)
2g.108907958C>TCA348051036EDAR,RANBP2c.865G>A (p.Glu289Lys)
c.961G>A (p.Glu321Lys)
c.1012G>A (p.Glu338Lys)
c.916G>A (p.Glu306Lys)
c.292G>A (p.Glu98Lys)
c.1105G>A (p.Glu369Lys)
c.1009G>A (p.Glu337Lys)
c.8370+134912C>T (n.8370+134912C>T)
 gnomAD v4
2g.108907959C>ACA348051037EDAR,RANBP2c.864G>T (p.Glu288Asp)
c.960G>T (p.Glu320Asp)
c.1011G>T (p.Glu337Asp)
c.915G>T (p.Glu305Asp)
c.291G>T (p.Glu97Asp)
c.1104G>T (p.Glu368Asp)
c.1008G>T (p.Glu336Asp)
c.8370+134913C>A (n.8370+134913C>A)
2g.108907959C>GCA348051038EDAR,RANBP2c.864G>C (p.Glu288Asp)
c.960G>C (p.Glu320Asp)
c.1011G>C (p.Glu337Asp)
c.915G>C (p.Glu305Asp)
c.291G>C (p.Glu97Asp)
c.1104G>C (p.Glu368Asp)
c.1008G>C (p.Glu336Asp)
c.8370+134913C>G (n.8370+134913C>G)
2g.108907959C>TCA427911950EDAR,RANBP2c.864G>A (p.Glu288=)
c.960G>A (p.Glu320=)
c.1011G>A (p.Glu337=)
c.915G>A (p.Glu305=)
c.291G>A (p.Glu97=)
c.1104G>A (p.Glu368=)
c.1008G>A (p.Glu336=)
c.8370+134913C>T (n.8370+134913C>T)
2g.108907960T>ACA348051039EDAR,RANBP2c.863A>T (p.Glu288Val)
c.959A>T (p.Glu320Val)
c.1010A>T (p.Glu337Val)
c.914A>T (p.Glu305Val)
c.290A>T (p.Glu97Val)
c.1103A>T (p.Glu368Val)
c.1007A>T (p.Glu336Val)
c.8370+134914T>A (n.8370+134914T>A)
2g.108907960T>CCA348051040EDAR,RANBP2c.863A>G (p.Glu288Gly)
c.959A>G (p.Glu320Gly)
c.1010A>G (p.Glu337Gly)
c.914A>G (p.Glu305Gly)
c.290A>G (p.Glu97Gly)
c.1103A>G (p.Glu368Gly)
c.1007A>G (p.Glu336Gly)
c.8370+134914T>C (n.8370+134914T>C)
2g.108907960T>GCA348051041EDAR,RANBP2c.863A>C (p.Glu288Ala)
c.959A>C (p.Glu320Ala)
c.1010A>C (p.Glu337Ala)
c.914A>C (p.Glu305Ala)
c.290A>C (p.Glu97Ala)
c.1103A>C (p.Glu368Ala)
c.1007A>C (p.Glu336Ala)
c.8370+134914T>G (n.8370+134914T>G)
2g.108907961C>ACA348051043EDAR,RANBP2c.862G>T (p.Glu288Ter)
c.958G>T (p.Glu320Ter)
c.1009G>T (p.Glu337Ter)
c.913G>T (p.Glu305Ter)
c.289G>T (p.Glu97Ter)
c.1102G>T (p.Glu368Ter)
c.1006G>T (p.Glu336Ter)
c.8370+134915C>A (n.8370+134915C>A)
2g.108907961C>GCA348051044EDAR,RANBP2c.862G>C (p.Glu288Gln)
c.958G>C (p.Glu320Gln)
c.1009G>C (p.Glu337Gln)
c.913G>C (p.Glu305Gln)
c.289G>C (p.Glu97Gln)
c.1102G>C (p.Glu368Gln)
c.1006G>C (p.Glu336Gln)
c.8370+134915C>G (n.8370+134915C>G)
2g.108907961C>TCA348051042EDAR,RANBP2c.862G>A (p.Glu288Lys)
c.958G>A (p.Glu320Lys)
c.1009G>A (p.Glu337Lys)
c.913G>A (p.Glu305Lys)
c.289G>A (p.Glu97Lys)
c.1102G>A (p.Glu368Lys)
c.1006G>A (p.Glu336Lys)
c.8370+134915C>T (n.8370+134915C>T)
2g.108907962A>CCA348051045EDAR,RANBP2c.861T>G (p.Asp287Glu)
c.957T>G (p.Asp319Glu)
c.1008T>G (p.Asp336Glu)
c.912T>G (p.Asp304Glu)
c.288T>G (p.Asp96Glu)
c.1101T>G (p.Asp367Glu)
c.1005T>G (p.Asp335Glu)
c.8370+134916A>C (n.8370+134916A>C)
2g.108907962A>GCA427911951EDAR,RANBP2c.861T>C (p.Asp287=)
c.957T>C (p.Asp319=)
c.1008T>C (p.Asp336=)
c.912T>C (p.Asp304=)
c.288T>C (p.Asp96=)
c.1101T>C (p.Asp367=)
c.1005T>C (p.Asp335=)
c.8370+134916A>G (n.8370+134916A>G)
2g.108907962A>TCA348051046EDAR,RANBP2c.861T>A (p.Asp287Glu)
c.957T>A (p.Asp319Glu)
c.1008T>A (p.Asp336Glu)
c.912T>A (p.Asp304Glu)
c.288T>A (p.Asp96Glu)
c.1101T>A (p.Asp367Glu)
c.1005T>A (p.Asp335Glu)
c.8370+134916A>T (n.8370+134916A>T)
2g.108907963T>ACA348051047EDAR,RANBP2c.860A>T (p.Asp287Val)
c.956A>T (p.Asp319Val)
c.1007A>T (p.Asp336Val)
c.911A>T (p.Asp304Val)
c.287A>T (p.Asp96Val)
c.1100A>T (p.Asp367Val)
c.1004A>T (p.Asp335Val)
c.8370+134917T>A (n.8370+134917T>A)
2g.108907963T>CCA348051048EDAR,RANBP2c.860A>G (p.Asp287Gly)
c.956A>G (p.Asp319Gly)
c.1007A>G (p.Asp336Gly)
c.911A>G (p.Asp304Gly)
c.287A>G (p.Asp96Gly)
c.1100A>G (p.Asp367Gly)
c.1004A>G (p.Asp335Gly)
c.8370+134917T>C (n.8370+134917T>C)
2g.108907963T>GCA348051049EDAR,RANBP2c.860A>C (p.Asp287Ala)
c.956A>C (p.Asp319Ala)
c.1007A>C (p.Asp336Ala)
c.911A>C (p.Asp304Ala)
c.287A>C (p.Asp96Ala)
c.1100A>C (p.Asp367Ala)
c.1004A>C (p.Asp335Ala)
c.8370+134917T>G (n.8370+134917T>G)
2g.108907964C>ACA348051050EDAR,RANBP2c.859G>T (p.Asp287Tyr)
c.955G>T (p.Asp319Tyr)
c.1006G>T (p.Asp336Tyr)
c.910G>T (p.Asp304Tyr)
c.286G>T (p.Asp96Tyr)
c.1099G>T (p.Asp367Tyr)
c.1003G>T (p.Asp335Tyr)
c.8370+134918C>A (n.8370+134918C>A)
2g.108907964C>GCA348051051EDAR,RANBP2c.859G>C (p.Asp287His)
c.955G>C (p.Asp319His)
c.1006G>C (p.Asp336His)
c.910G>C (p.Asp304His)
c.286G>C (p.Asp96His)
c.1099G>C (p.Asp367His)
c.1003G>C (p.Asp335His)
c.8370+134918C>G (n.8370+134918C>G)
2g.108907964C>TCA348051052EDAR,RANBP2c.859G>A (p.Asp287Asn)
c.955G>A (p.Asp319Asn)
c.1006G>A (p.Asp336Asn)
c.910G>A (p.Asp304Asn)
c.286G>A (p.Asp96Asn)
c.1099G>A (p.Asp367Asn)
c.1003G>A (p.Asp335Asn)
c.8370+134918C>T (n.8370+134918C>T)
2g.108907965A>CCA348051053EDAR,RANBP2c.858T>G (p.Ser286Arg)
c.954T>G (p.Ser318Arg)
c.1005T>G (p.Ser335Arg)
c.909T>G (p.Ser303Arg)
c.285T>G (p.Ser95Arg)
c.1098T>G (p.Ser366Arg)
c.1002T>G (p.Ser334Arg)
c.8370+134919A>C (n.8370+134919A>C)
2g.108907965A>GCA427911952EDAR,RANBP2c.858T>C (p.Ser286=)
c.954T>C (p.Ser318=)
c.1005T>C (p.Ser335=)
c.909T>C (p.Ser303=)
c.285T>C (p.Ser95=)
c.1098T>C (p.Ser366=)
c.1002T>C (p.Ser334=)
c.8370+134919A>G (n.8370+134919A>G)
2g.108907965A>TCA348051054EDAR,RANBP2c.858T>A (p.Ser286Arg)
c.954T>A (p.Ser318Arg)
c.1005T>A (p.Ser335Arg)
c.909T>A (p.Ser303Arg)
c.285T>A (p.Ser95Arg)
c.1098T>A (p.Ser366Arg)
c.1002T>A (p.Ser334Arg)
c.8370+134919A>T (n.8370+134919A>T)
2g.108907966C>ACA348051055EDAR,RANBP2c.857G>T (p.Ser286Ile)
c.953G>T (p.Ser318Ile)
c.1004G>T (p.Ser335Ile)
c.908G>T (p.Ser303Ile)
c.284G>T (p.Ser95Ile)
c.1097G>T (p.Ser366Ile)
c.1001G>T (p.Ser334Ile)
c.8370+134920C>A (n.8370+134920C>A)
2g.108907966C=CA1278358969EDAR,RANBP2c.857G= (p.Ser286=)
c.953G= (p.Ser318=)
c.1004G= (p.Ser335=)
c.908G= (p.Ser303=)
c.284G= (p.Ser95=)
c.1097G= (p.Ser366=)
c.1001G= (p.Ser334=)
c.8370+134920C= (n.8370+134920C=)
2g.108907966C>GCA53473326EDAR,RANBP2c.857G>C (p.Ser286Thr)
c.953G>C (p.Ser318Thr)
c.1004G>C (p.Ser335Thr)
c.908G>C (p.Ser303Thr)
c.284G>C (p.Ser95Thr)
c.1097G>C (p.Ser366Thr)
c.1001G>C (p.Ser334Thr)
c.8370+134920C>G (n.8370+134920C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108907966C>TCA348051056EDAR,RANBP2c.857G>A (p.Ser286Asn)
c.953G>A (p.Ser318Asn)
c.1004G>A (p.Ser335Asn)
c.908G>A (p.Ser303Asn)
c.284G>A (p.Ser95Asn)
c.1097G>A (p.Ser366Asn)
c.1001G>A (p.Ser334Asn)
c.8370+134920C>T (n.8370+134920C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108907967T>ACA348051059EDAR,RANBP2c.856A>T (p.Ser286Cys)
c.952A>T (p.Ser318Cys)
c.1003A>T (p.Ser335Cys)
c.907A>T (p.Ser303Cys)
c.283A>T (p.Ser95Cys)
c.1096A>T (p.Ser366Cys)
c.1000A>T (p.Ser334Cys)
c.8370+134921T>A (n.8370+134921T>A)
2g.108907967T>CCA348051058EDAR,RANBP2c.856A>G (p.Ser286Gly)
c.952A>G (p.Ser318Gly)
c.1003A>G (p.Ser335Gly)
c.907A>G (p.Ser303Gly)
c.283A>G (p.Ser95Gly)
c.1096A>G (p.Ser366Gly)
c.1000A>G (p.Ser334Gly)
c.8370+134921T>C (n.8370+134921T>C)
2g.108907967T>GCA348051057EDAR,RANBP2c.856A>C (p.Ser286Arg)
c.952A>C (p.Ser318Arg)
c.1003A>C (p.Ser335Arg)
c.907A>C (p.Ser303Arg)
c.283A>C (p.Ser95Arg)
c.1096A>C (p.Ser366Arg)
c.1000A>C (p.Ser334Arg)
c.8370+134921T>G (n.8370+134921T>G)
2g.108907968G>ACA427911953EDAR,RANBP2c.855C>T (p.Asp285=)
c.951C>T (p.Asp317=)
c.1002C>T (p.Asp334=)
c.906C>T (p.Asp302=)
c.282C>T (p.Asp94=)
c.1095C>T (p.Asp365=)
c.999C>T (p.Asp333=)
c.8370+134922G>A (n.8370+134922G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108907968G>CCA348051060EDAR,RANBP2c.855C>G (p.Asp285Glu)
c.951C>G (p.Asp317Glu)
c.1002C>G (p.Asp334Glu)
c.906C>G (p.Asp302Glu)
c.282C>G (p.Asp94Glu)
c.1095C>G (p.Asp365Glu)
c.999C>G (p.Asp333Glu)
c.8370+134922G>C (n.8370+134922G>C)
 gnomAD v4
2g.108907968G=CA1278358970EDAR,RANBP2c.855C= (p.Asp285=)
c.951C= (p.Asp317=)
c.1002C= (p.Asp334=)
c.906C= (p.Asp302=)
c.282C= (p.Asp94=)
c.1095C= (p.Asp365=)
c.999C= (p.Asp333=)
c.8370+134922G= (n.8370+134922G=)
2g.108907968G>TCA348051061EDAR,RANBP2c.855C>A (p.Asp285Glu)
c.951C>A (p.Asp317Glu)
c.1002C>A (p.Asp334Glu)
c.906C>A (p.Asp302Glu)
c.282C>A (p.Asp94Glu)
c.1095C>A (p.Asp365Glu)
c.999C>A (p.Asp333Glu)
c.8370+134922G>T (n.8370+134922G>T)
2g.108907969T>ACA348051062EDAR,RANBP2c.854A>T (p.Asp285Val)
c.950A>T (p.Asp317Val)
c.1001A>T (p.Asp334Val)
c.905A>T (p.Asp302Val)
c.281A>T (p.Asp94Val)
c.1094A>T (p.Asp365Val)
c.998A>T (p.Asp333Val)
c.8370+134923T>A (n.8370+134923T>A)
2g.108907969T>CCA348051063EDAR,RANBP2c.854A>G (p.Asp285Gly)
c.950A>G (p.Asp317Gly)
c.1001A>G (p.Asp334Gly)
c.905A>G (p.Asp302Gly)
c.281A>G (p.Asp94Gly)
c.1094A>G (p.Asp365Gly)
c.998A>G (p.Asp333Gly)
c.8370+134923T>C (n.8370+134923T>C)
2g.108907969T>GCA348051064EDAR,RANBP2c.854A>C (p.Asp285Ala)
c.950A>C (p.Asp317Ala)
c.1001A>C (p.Asp334Ala)
c.905A>C (p.Asp302Ala)
c.281A>C (p.Asp94Ala)
c.1094A>C (p.Asp365Ala)
c.998A>C (p.Asp333Ala)
c.8370+134923T>G (n.8370+134923T>G)
2g.108907970C>ACA348051065EDAR,RANBP2c.853G>T (p.Asp285Tyr)
c.949G>T (p.Asp317Tyr)
c.1000G>T (p.Asp334Tyr)
c.904G>T (p.Asp302Tyr)
c.280G>T (p.Asp94Tyr)
c.1093G>T (p.Asp365Tyr)
c.997G>T (p.Asp333Tyr)
c.8370+134924C>A (n.8370+134924C>A)
 gnomAD v4
2g.108907970C=CA1278358971EDAR,RANBP2c.853G= (p.Asp285=)
c.949G= (p.Asp317=)
c.1000G= (p.Asp334=)
c.904G= (p.Asp302=)
c.280G= (p.Asp94=)
c.1093G= (p.Asp365=)
c.997G= (p.Asp333=)
c.8370+134924C= (n.8370+134924C=)
2g.108907970C>GCA348051066EDAR,RANBP2c.853G>C (p.Asp285His)
c.949G>C (p.Asp317His)
c.1000G>C (p.Asp334His)
c.904G>C (p.Asp302His)
c.280G>C (p.Asp94His)
c.1093G>C (p.Asp365His)
c.997G>C (p.Asp333His)
c.8370+134924C>G (n.8370+134924C>G)
2g.108907970C>TCA348051067EDAR,RANBP2c.853G>A (p.Asp285Asn)
c.949G>A (p.Asp317Asn)
c.1000G>A (p.Asp334Asn)
c.904G>A (p.Asp302Asn)
c.280G>A (p.Asp94Asn)
c.1093G>A (p.Asp365Asn)
c.997G>A (p.Asp333Asn)
c.8370+134924C>T (n.8370+134924C>T)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.108907971G>ACA1824901EDAR,RANBP2c.852C>T (p.Val284=)
c.948C>T (p.Val316=)
c.999C>T (p.Val333=)
c.903C>T (p.Val301=)
c.279C>T (p.Val93=)
c.1092C>T (p.Val364=)
c.996C>T (p.Val332=)
c.8370+134925G>A (n.8370+134925G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907971G>CCA427911955EDAR,RANBP2c.852C>G (p.Val284=)
c.948C>G (p.Val316=)
c.999C>G (p.Val333=)
c.903C>G (p.Val301=)
c.279C>G (p.Val93=)
c.1092C>G (p.Val364=)
c.996C>G (p.Val332=)
c.8370+134925G>C (n.8370+134925G>C)
 gnomAD v4
2g.108907971G=CA1278358972EDAR,RANBP2c.852C= (p.Val284=)
c.948C= (p.Val316=)
c.999C= (p.Val333=)
c.903C= (p.Val301=)
c.279C= (p.Val93=)
c.1092C= (p.Val364=)
c.996C= (p.Val332=)
c.8370+134925G= (n.8370+134925G=)
2g.108907971G>TCA427911954EDAR,RANBP2c.852C>A (p.Val284=)
c.948C>A (p.Val316=)
c.999C>A (p.Val333=)
c.903C>A (p.Val301=)
c.279C>A (p.Val93=)
c.1092C>A (p.Val364=)
c.996C>A (p.Val332=)
c.8370+134925G>T (n.8370+134925G>T)
2g.108907972A>CCA348051068EDAR,RANBP2c.851T>G (p.Val284Gly)
c.947T>G (p.Val316Gly)
c.998T>G (p.Val333Gly)
c.902T>G (p.Val301Gly)
c.278T>G (p.Val93Gly)
c.1091T>G (p.Val364Gly)
c.995T>G (p.Val332Gly)
c.8370+134926A>C (n.8370+134926A>C)
2g.108907972A>GCA348051069EDAR,RANBP2c.851T>C (p.Val284Ala)
c.947T>C (p.Val316Ala)
c.998T>C (p.Val333Ala)
c.902T>C (p.Val301Ala)
c.278T>C (p.Val93Ala)
c.1091T>C (p.Val364Ala)
c.995T>C (p.Val332Ala)
c.8370+134926A>G (n.8370+134926A>G)
2g.108907972A>TCA348051070EDAR,RANBP2c.851T>A (p.Val284Asp)
c.947T>A (p.Val316Asp)
c.998T>A (p.Val333Asp)
c.902T>A (p.Val301Asp)
c.278T>A (p.Val93Asp)
c.1091T>A (p.Val364Asp)
c.995T>A (p.Val332Asp)
c.8370+134926A>T (n.8370+134926A>T)
2g.108907973C>ACA348051072EDAR,RANBP2c.850G>T (p.Val284Phe)
c.946G>T (p.Val316Phe)
c.997G>T (p.Val333Phe)
c.901G>T (p.Val301Phe)
c.277G>T (p.Val93Phe)
c.1090G>T (p.Val364Phe)
c.994G>T (p.Val332Phe)
c.8370+134927C>A (n.8370+134927C>A)
 dbSNP
2g.108907973C=CA1278358973EDAR,RANBP2c.850G= (p.Val284=)
c.946G= (p.Val316=)
c.997G= (p.Val333=)
c.901G= (p.Val301=)
c.277G= (p.Val93=)
c.1090G= (p.Val364=)
c.994G= (p.Val332=)
c.8370+134927C= (n.8370+134927C=)
2g.108907973C>GCA348051071EDAR,RANBP2c.850G>C (p.Val284Leu)
c.946G>C (p.Val316Leu)
c.997G>C (p.Val333Leu)
c.901G>C (p.Val301Leu)
c.277G>C (p.Val93Leu)
c.1090G>C (p.Val364Leu)
c.994G>C (p.Val332Leu)
c.8370+134927C>G (n.8370+134927C>G)
2g.108907973C>TCA1824902EDAR,RANBP2c.850G>A (p.Val284Ile)
c.946G>A (p.Val316Ile)
c.997G>A (p.Val333Ile)
c.901G>A (p.Val301Ile)
c.277G>A (p.Val93Ile)
c.1090G>A (p.Val364Ile)
c.994G>A (p.Val332Ile)
c.8370+134927C>T (n.8370+134927C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907974G>ACA1824903EDAR,RANBP2c.849C>T (p.Ser283=)
c.945C>T (p.Ser315=)
c.996C>T (p.Ser332=)
c.900C>T (p.Ser300=)
c.276C>T (p.Ser92=)
c.1089C>T (p.Ser363=)
c.993C>T (p.Ser331=)
c.8370+134928G>A (n.8370+134928G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108907974G>CCA348051074EDAR,RANBP2c.849C>G (p.Ser283Arg)
c.945C>G (p.Ser315Arg)
c.996C>G (p.Ser332Arg)
c.900C>G (p.Ser300Arg)
c.276C>G (p.Ser92Arg)
c.1089C>G (p.Ser363Arg)
c.993C>G (p.Ser331Arg)
c.8370+134928G>C (n.8370+134928G>C)
2g.108907974G=CA1278358974EDAR,RANBP2c.849C= (p.Ser283=)
c.945C= (p.Ser315=)
c.996C= (p.Ser332=)
c.900C= (p.Ser300=)
c.276C= (p.Ser92=)
c.1089C= (p.Ser363=)
c.993C= (p.Ser331=)
c.8370+134928G= (n.8370+134928G=)
2g.108907974G>TCA348051073EDAR,RANBP2c.849C>A (p.Ser283Arg)
c.945C>A (p.Ser315Arg)
c.996C>A (p.Ser332Arg)
c.900C>A (p.Ser300Arg)
c.276C>A (p.Ser92Arg)
c.1089C>A (p.Ser363Arg)
c.993C>A (p.Ser331Arg)
c.8370+134928G>T (n.8370+134928G>T)
 ClinVar dbSNP
2g.108907975C>ACA348051075EDAR,RANBP2c.848G>T (p.Ser283Ile)
c.944G>T (p.Ser315Ile)
c.995G>T (p.Ser332Ile)
c.899G>T (p.Ser300Ile)
c.275G>T (p.Ser92Ile)
c.1088G>T (p.Ser363Ile)
c.992G>T (p.Ser331Ile)
c.8370+134929C>A (n.8370+134929C>A)
2g.108907975C=CA1278358975EDAR,RANBP2c.848G= (p.Ser283=)
c.944G= (p.Ser315=)
c.995G= (p.Ser332=)
c.899G= (p.Ser300=)
c.275G= (p.Ser92=)
c.1088G= (p.Ser363=)
c.992G= (p.Ser331=)
c.8370+134929C= (n.8370+134929C=)
2g.108907975C>GCA348051076EDAR,RANBP2c.848G>C (p.Ser283Thr)
c.944G>C (p.Ser315Thr)
c.995G>C (p.Ser332Thr)
c.899G>C (p.Ser300Thr)
c.275G>C (p.Ser92Thr)
c.1088G>C (p.Ser363Thr)
c.992G>C (p.Ser331Thr)
c.8370+134929C>G (n.8370+134929C>G)
 dbSNP
2g.108907975C>TCA53473340EDAR,RANBP2c.848G>A (p.Ser283Asn)
c.944G>A (p.Ser315Asn)
c.995G>A (p.Ser332Asn)
c.899G>A (p.Ser300Asn)
c.275G>A (p.Ser92Asn)
c.1088G>A (p.Ser363Asn)
c.992G>A (p.Ser331Asn)
c.8370+134929C>T (n.8370+134929C>T)
 dbSNP gnomAD v4
2g.108907976T>ACA348051077EDAR,RANBP2c.847A>T (p.Ser283Cys)
c.943A>T (p.Ser315Cys)
c.994A>T (p.Ser332Cys)
c.898A>T (p.Ser300Cys)
c.274A>T (p.Ser92Cys)
c.1087A>T (p.Ser363Cys)
c.991A>T (p.Ser331Cys)
c.8370+134930T>A (n.8370+134930T>A)
2g.108907976T>CCA348051078EDAR,RANBP2c.847A>G (p.Ser283Gly)
c.943A>G (p.Ser315Gly)
c.994A>G (p.Ser332Gly)
c.898A>G (p.Ser300Gly)
c.274A>G (p.Ser92Gly)
c.1087A>G (p.Ser363Gly)
c.991A>G (p.Ser331Gly)
c.8370+134930T>C (n.8370+134930T>C)
 gnomAD v4
2g.108907976T>GCA348051079EDAR,RANBP2c.847A>C (p.Ser283Arg)
c.943A>C (p.Ser315Arg)
c.994A>C (p.Ser332Arg)
c.898A>C (p.Ser300Arg)
c.274A>C (p.Ser92Arg)
c.1087A>C (p.Ser363Arg)
c.991A>C (p.Ser331Arg)
c.8370+134930T>G (n.8370+134930T>G)
2g.108907977C>ACA427911956EDAR,RANBP2c.846G>T (p.Arg282=)
c.942G>T (p.Arg314=)
c.993G>T (p.Arg331=)
c.897G>T (p.Arg299=)
c.273G>T (p.Arg91=)
c.1086G>T (p.Arg362=)
c.990G>T (p.Arg330=)
c.8370+134931C>A (n.8370+134931C>A)
2g.108907977C>GCA427911957EDAR,RANBP2c.846G>C (p.Arg282=)
c.942G>C (p.Arg314=)
c.993G>C (p.Arg331=)
c.897G>C (p.Arg299=)
c.273G>C (p.Arg91=)
c.1086G>C (p.Arg362=)
c.990G>C (p.Arg330=)
c.8370+134931C>G (n.8370+134931C>G)
2g.108907977C>TCA427911958EDAR,RANBP2c.846G>A (p.Arg282=)
c.942G>A (p.Arg314=)
c.993G>A (p.Arg331=)
c.897G>A (p.Arg299=)
c.273G>A (p.Arg91=)
c.1086G>A (p.Arg362=)
c.990G>A (p.Arg330=)
c.8370+134931C>T (n.8370+134931C>T)
 gnomAD v4 COSMIC
2g.108907978C>ACA348051080EDAR,RANBP2c.845G>T (p.Arg282Leu)
c.941G>T (p.Arg314Leu)
c.992G>T (p.Arg331Leu)
c.896G>T (p.Arg299Leu)
c.272G>T (p.Arg91Leu)
c.1085G>T (p.Arg362Leu)
c.989G>T (p.Arg330Leu)
c.8370+134932C>A (n.8370+134932C>A)
2g.108907978C=CA1278358976EDAR,RANBP2c.845G= (p.Arg282=)
c.941G= (p.Arg314=)
c.992G= (p.Arg331=)
c.896G= (p.Arg299=)
c.272G= (p.Arg91=)
c.1085G= (p.Arg362=)
c.989G= (p.Arg330=)
c.8370+134932C= (n.8370+134932C=)
2g.108907978C>GCA348051081EDAR,RANBP2c.845G>C (p.Arg282Pro)
c.941G>C (p.Arg314Pro)
c.992G>C (p.Arg331Pro)
c.896G>C (p.Arg299Pro)
c.272G>C (p.Arg91Pro)
c.1085G>C (p.Arg362Pro)
c.989G>C (p.Arg330Pro)
c.8370+134932C>G (n.8370+134932C>G)
2g.108907978C>TCA1824904EDAR,RANBP2c.845G>A (p.Arg282Gln)
c.941G>A (p.Arg314Gln)
c.992G>A (p.Arg331Gln)
c.896G>A (p.Arg299Gln)
c.272G>A (p.Arg91Gln)
c.1085G>A (p.Arg362Gln)
c.989G>A (p.Arg330Gln)
c.8370+134932C>T (n.8370+134932C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907979G>ACA1824905EDAR,RANBP2c.844C>T (p.Arg282Trp)
c.940C>T (p.Arg314Trp)
c.991C>T (p.Arg331Trp)
c.895C>T (p.Arg299Trp)
c.271C>T (p.Arg91Trp)
c.1084C>T (p.Arg362Trp)
c.988C>T (p.Arg330Trp)
c.8370+134933G>A (n.8370+134933G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108907979G>CCA1824906EDAR,RANBP2c.844C>G (p.Arg282Gly)
c.940C>G (p.Arg314Gly)
c.991C>G (p.Arg331Gly)
c.895C>G (p.Arg299Gly)
c.271C>G (p.Arg91Gly)
c.1084C>G (p.Arg362Gly)
c.988C>G (p.Arg330Gly)
c.8370+134933G>C (n.8370+134933G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907979G=CA1278358977EDAR,RANBP2c.844C= (p.Arg282=)
c.940C= (p.Arg314=)
c.991C= (p.Arg331=)
c.895C= (p.Arg299=)
c.271C= (p.Arg91=)
c.1084C= (p.Arg362=)
c.988C= (p.Arg330=)
c.8370+134933G= (n.8370+134933G=)
2g.108907979G>TCA427911959EDAR,RANBP2c.844C>A (p.Arg282=)
c.940C>A (p.Arg314=)
c.991C>A (p.Arg331=)
c.895C>A (p.Arg299=)
c.271C>A (p.Arg91=)
c.1084C>A (p.Arg362=)
c.988C>A (p.Arg330=)
c.8370+134933G>T (n.8370+134933G>T)
 gnomAD v4
2g.108907980G>ACA427911960EDAR,RANBP2c.843C>T (p.Ser281=)
c.939C>T (p.Ser313=)
c.990C>T (p.Ser330=)
c.894C>T (p.Ser298=)
c.270C>T (p.Ser90=)
c.1083C>T (p.Ser361=)
c.987C>T (p.Ser329=)
c.8370+134934G>A (n.8370+134934G>A)
 gnomAD v4
2g.108907980G>CCA348051082EDAR,RANBP2c.843C>G (p.Ser281Arg)
c.939C>G (p.Ser313Arg)
c.990C>G (p.Ser330Arg)
c.894C>G (p.Ser298Arg)
c.270C>G (p.Ser90Arg)
c.1083C>G (p.Ser361Arg)
c.987C>G (p.Ser329Arg)
c.8370+134934G>C (n.8370+134934G>C)
2g.108907980G>TCA348051083EDAR,RANBP2c.843C>A (p.Ser281Arg)
c.939C>A (p.Ser313Arg)
c.990C>A (p.Ser330Arg)
c.894C>A (p.Ser298Arg)
c.270C>A (p.Ser90Arg)
c.1083C>A (p.Ser361Arg)
c.987C>A (p.Ser329Arg)
c.8370+134934G>T (n.8370+134934G>T)
2g.108907981C>ACA348051084EDAR,RANBP2c.842G>T (p.Ser281Ile)
c.938G>T (p.Ser313Ile)
c.989G>T (p.Ser330Ile)
c.893G>T (p.Ser298Ile)
c.269G>T (p.Ser90Ile)
c.1082G>T (p.Ser361Ile)
c.986G>T (p.Ser329Ile)
c.8370+134935C>A (n.8370+134935C>A)
2g.108907981C>GCA348051086EDAR,RANBP2c.842G>C (p.Ser281Thr)
c.938G>C (p.Ser313Thr)
c.989G>C (p.Ser330Thr)
c.893G>C (p.Ser298Thr)
c.269G>C (p.Ser90Thr)
c.1082G>C (p.Ser361Thr)
c.986G>C (p.Ser329Thr)
c.8370+134935C>G (n.8370+134935C>G)
2g.108907981C>TCA348051085EDAR,RANBP2c.842G>A (p.Ser281Asn)
c.938G>A (p.Ser313Asn)
c.989G>A (p.Ser330Asn)
c.893G>A (p.Ser298Asn)
c.269G>A (p.Ser90Asn)
c.1082G>A (p.Ser361Asn)
c.986G>A (p.Ser329Asn)
c.8370+134935C>T (n.8370+134935C>T)
2g.108907982T>ACA348051087EDAR,RANBP2c.841A>T (p.Ser281Cys)
c.937A>T (p.Ser313Cys)
c.988A>T (p.Ser330Cys)
c.892A>T (p.Ser298Cys)
c.268A>T (p.Ser90Cys)
c.1081A>T (p.Ser361Cys)
c.985A>T (p.Ser329Cys)
c.8370+134936T>A (n.8370+134936T>A)
2g.108907982T>CCA348051088EDAR,RANBP2c.841A>G (p.Ser281Gly)
c.937A>G (p.Ser313Gly)
c.988A>G (p.Ser330Gly)
c.892A>G (p.Ser298Gly)
c.268A>G (p.Ser90Gly)
c.1081A>G (p.Ser361Gly)
c.985A>G (p.Ser329Gly)
c.8370+134936T>C (n.8370+134936T>C)
 gnomAD v4
2g.108907982T>GCA348051089EDAR,RANBP2c.841A>C (p.Ser281Arg)
c.937A>C (p.Ser313Arg)
c.988A>C (p.Ser330Arg)
c.892A>C (p.Ser298Arg)
c.268A>C (p.Ser90Arg)
c.1081A>C (p.Ser361Arg)
c.985A>C (p.Ser329Arg)
c.8370+134936T>G (n.8370+134936T>G)
2g.108907983C>ACA427911961EDAR,RANBP2c.840G>T (p.Leu280=)
c.936G>T (p.Leu312=)
c.987G>T (p.Leu329=)
c.891G>T (p.Leu297=)
c.267G>T (p.Leu89=)
c.1080G>T (p.Leu360=)
c.984G>T (p.Leu328=)
c.8370+134937C>A (n.8370+134937C>A)
2g.108907983C>GCA427911962EDAR,RANBP2c.840G>C (p.Leu280=)
c.936G>C (p.Leu312=)
c.987G>C (p.Leu329=)
c.891G>C (p.Leu297=)
c.267G>C (p.Leu89=)
c.1080G>C (p.Leu360=)
c.984G>C (p.Leu328=)
c.8370+134937C>G (n.8370+134937C>G)
2g.108907983C>TCA427911963EDAR,RANBP2c.840G>A (p.Leu280=)
c.936G>A (p.Leu312=)
c.987G>A (p.Leu329=)
c.891G>A (p.Leu297=)
c.267G>A (p.Leu89=)
c.1080G>A (p.Leu360=)
c.984G>A (p.Leu328=)
c.8370+134937C>T (n.8370+134937C>T)
2g.108907984A>CCA348051090EDAR,RANBP2c.839T>G (p.Leu280Arg)
c.935T>G (p.Leu312Arg)
c.986T>G (p.Leu329Arg)
c.890T>G (p.Leu297Arg)
c.266T>G (p.Leu89Arg)
c.1079T>G (p.Leu360Arg)
c.983T>G (p.Leu328Arg)
c.8370+134938A>C (n.8370+134938A>C)
2g.108907984A>GCA348051091EDAR,RANBP2c.839T>C (p.Leu280Pro)
c.935T>C (p.Leu312Pro)
c.986T>C (p.Leu329Pro)
c.890T>C (p.Leu297Pro)
c.266T>C (p.Leu89Pro)
c.1079T>C (p.Leu360Pro)
c.983T>C (p.Leu328Pro)
c.8370+134938A>G (n.8370+134938A>G)
2g.108907984A>TCA348051092EDAR,RANBP2c.839T>A (p.Leu280Gln)
c.935T>A (p.Leu312Gln)
c.986T>A (p.Leu329Gln)
c.890T>A (p.Leu297Gln)
c.266T>A (p.Leu89Gln)
c.1079T>A (p.Leu360Gln)
c.983T>A (p.Leu328Gln)
c.8370+134938A>T (n.8370+134938A>T)
2g.108907985G>ACA427911964EDAR,RANBP2c.838C>T (p.Leu280=)
c.934C>T (p.Leu312=)
c.985C>T (p.Leu329=)
c.889C>T (p.Leu297=)
c.265C>T (p.Leu89=)
c.1078C>T (p.Leu360=)
c.982C>T (p.Leu328=)
c.8370+134939G>A (n.8370+134939G>A)
2g.108907985G>CCA348051093EDAR,RANBP2c.838C>G (p.Leu280Val)
c.934C>G (p.Leu312Val)
c.985C>G (p.Leu329Val)
c.889C>G (p.Leu297Val)
c.265C>G (p.Leu89Val)
c.1078C>G (p.Leu360Val)
c.982C>G (p.Leu328Val)
c.8370+134939G>C (n.8370+134939G>C)
2g.108907985G>TCA348051094EDAR,RANBP2c.838C>A (p.Leu280Met)
c.934C>A (p.Leu312Met)
c.985C>A (p.Leu329Met)
c.889C>A (p.Leu297Met)
c.265C>A (p.Leu89Met)
c.1078C>A (p.Leu360Met)
c.982C>A (p.Leu328Met)
c.8370+134939G>T (n.8370+134939G>T)
2g.108907987_108907992delCA2568859052EDAR,RANBP2c.833_838del (p.Gln278_Leu279del)
c.929_934del (p.Gln310_Leu311del)
c.980_985del (p.Gln327_Leu328del)
c.884_889del (p.Gln295_Leu296del)
c.260_265del (p.Gln87_Leu88del)
c.1073_1078del (p.Gln358_Leu359del)
c.977_982del (p.Gln326_Leu327del)
c.8370+134941_8370+134946del (n.8370+134941_8370+134946del)
2g.108907986C>ACA427911965EDAR,RANBP2c.837G>T (p.Leu279=)
c.933G>T (p.Leu311=)
c.984G>T (p.Leu328=)
c.888G>T (p.Leu296=)
c.264G>T (p.Leu88=)
c.1077G>T (p.Leu359=)
c.981G>T (p.Leu327=)
c.8370+134940C>A (n.8370+134940C>A)
2g.108907986C=CA1278358978EDAR,RANBP2c.837G= (p.Leu279=)
c.933G= (p.Leu311=)
c.984G= (p.Leu328=)
c.888G= (p.Leu296=)
c.264G= (p.Leu88=)
c.1077G= (p.Leu359=)
c.981G= (p.Leu327=)
c.8370+134940C= (n.8370+134940C=)
2g.108907986C>GCA427911966EDAR,RANBP2c.837G>C (p.Leu279=)
c.933G>C (p.Leu311=)
c.984G>C (p.Leu328=)
c.888G>C (p.Leu296=)
c.264G>C (p.Leu88=)
c.1077G>C (p.Leu359=)
c.981G>C (p.Leu327=)
c.8370+134940C>G (n.8370+134940C>G)
2g.108907986C>TCA427911967EDAR,RANBP2c.837G>A (p.Leu279=)
c.933G>A (p.Leu311=)
c.984G>A (p.Leu328=)
c.888G>A (p.Leu296=)
c.264G>A (p.Leu88=)
c.1077G>A (p.Leu359=)
c.981G>A (p.Leu327=)
c.8370+134940C>T (n.8370+134940C>T)
 dbSNP gnomAD v4
2g.108907987A>CCA348051095EDAR,RANBP2c.836T>G (p.Leu279Arg)
c.932T>G (p.Leu311Arg)
c.983T>G (p.Leu328Arg)
c.887T>G (p.Leu296Arg)
c.263T>G (p.Leu88Arg)
c.1076T>G (p.Leu359Arg)
c.980T>G (p.Leu327Arg)
c.8370+134941A>C (n.8370+134941A>C)
2g.108907987A>GCA348051096EDAR,RANBP2c.836T>C (p.Leu279Pro)
c.932T>C (p.Leu311Pro)
c.983T>C (p.Leu328Pro)
c.887T>C (p.Leu296Pro)
c.263T>C (p.Leu88Pro)
c.1076T>C (p.Leu359Pro)
c.980T>C (p.Leu327Pro)
c.8370+134941A>G (n.8370+134941A>G)
2g.108907987A>TCA348051097EDAR,RANBP2c.836T>A (p.Leu279Gln)
c.932T>A (p.Leu311Gln)
c.983T>A (p.Leu328Gln)
c.887T>A (p.Leu296Gln)
c.263T>A (p.Leu88Gln)
c.1076T>A (p.Leu359Gln)
c.980T>A (p.Leu327Gln)
c.8370+134941A>T (n.8370+134941A>T)
2g.108907988G>ACA427911968EDAR,RANBP2c.835C>T (p.Leu279=)
c.931C>T (p.Leu311=)
c.982C>T (p.Leu328=)
c.886C>T (p.Leu296=)
c.262C>T (p.Leu88=)
c.1075C>T (p.Leu359=)
c.979C>T (p.Leu327=)
c.8370+134942G>A (n.8370+134942G>A)
2g.108907988G>CCA348051098EDAR,RANBP2c.835C>G (p.Leu279Val)
c.931C>G (p.Leu311Val)
c.982C>G (p.Leu328Val)
c.886C>G (p.Leu296Val)
c.262C>G (p.Leu88Val)
c.1075C>G (p.Leu359Val)
c.979C>G (p.Leu327Val)
c.8370+134942G>C (n.8370+134942G>C)
2g.108907988G>TCA348051099EDAR,RANBP2c.835C>A (p.Leu279Met)
c.931C>A (p.Leu311Met)
c.982C>A (p.Leu328Met)
c.886C>A (p.Leu296Met)
c.262C>A (p.Leu88Met)
c.1075C>A (p.Leu359Met)
c.979C>A (p.Leu327Met)
c.8370+134942G>T (n.8370+134942G>T)
2g.108907989C>ACA348051100EDAR,RANBP2c.834G>T (p.Gln278His)
c.930G>T (p.Gln310His)
c.981G>T (p.Gln327His)
c.885G>T (p.Gln295His)
c.261G>T (p.Gln87His)
c.1074G>T (p.Gln358His)
c.978G>T (p.Gln326His)
c.8370+134943C>A (n.8370+134943C>A)
2g.108907989C>GCA348051101EDAR,RANBP2c.834G>C (p.Gln278His)
c.930G>C (p.Gln310His)
c.981G>C (p.Gln327His)
c.885G>C (p.Gln295His)
c.261G>C (p.Gln87His)
c.1074G>C (p.Gln358His)
c.978G>C (p.Gln326His)
c.8370+134943C>G (n.8370+134943C>G)
 gnomAD v4
2g.108907989C>TCA427911969EDAR,RANBP2c.834G>A (p.Gln278=)
c.930G>A (p.Gln310=)
c.981G>A (p.Gln327=)
c.885G>A (p.Gln295=)
c.261G>A (p.Gln87=)
c.1074G>A (p.Gln358=)
c.978G>A (p.Gln326=)
c.8370+134943C>T (n.8370+134943C>T)
2g.108907990T>ACA348051102EDAR,RANBP2c.833A>T (p.Gln278Leu)
c.929A>T (p.Gln310Leu)
c.980A>T (p.Gln327Leu)
c.884A>T (p.Gln295Leu)
c.260A>T (p.Gln87Leu)
c.1073A>T (p.Gln358Leu)
c.977A>T (p.Gln326Leu)
c.8370+134944T>A (n.8370+134944T>A)
2g.108907990T>CCA348051103EDAR,RANBP2c.833A>G (p.Gln278Arg)
c.929A>G (p.Gln310Arg)
c.980A>G (p.Gln327Arg)
c.884A>G (p.Gln295Arg)
c.260A>G (p.Gln87Arg)
c.1073A>G (p.Gln358Arg)
c.977A>G (p.Gln326Arg)
c.8370+134944T>C (n.8370+134944T>C)
2g.108907990T>GCA348051104EDAR,RANBP2c.833A>C (p.Gln278Pro)
c.929A>C (p.Gln310Pro)
c.980A>C (p.Gln327Pro)
c.884A>C (p.Gln295Pro)
c.260A>C (p.Gln87Pro)
c.1073A>C (p.Gln358Pro)
c.977A>C (p.Gln326Pro)
c.8370+134944T>G (n.8370+134944T>G)
2g.108907991G>ACA348051107EDAR,RANBP2c.832C>T (p.Gln278Ter)
c.928C>T (p.Gln310Ter)
c.979C>T (p.Gln327Ter)
c.883C>T (p.Gln295Ter)
c.259C>T (p.Gln87Ter)
c.1072C>T (p.Gln358Ter)
c.976C>T (p.Gln326Ter)
c.8370+134945G>A (n.8370+134945G>A)
2g.108907991G>CCA348051106EDAR,RANBP2c.832C>G (p.Gln278Glu)
c.928C>G (p.Gln310Glu)
c.979C>G (p.Gln327Glu)
c.883C>G (p.Gln295Glu)
c.259C>G (p.Gln87Glu)
c.1072C>G (p.Gln358Glu)
c.976C>G (p.Gln326Glu)
c.8370+134945G>C (n.8370+134945G>C)
 gnomAD v4
2g.108907991G>TCA348051105EDAR,RANBP2c.832C>A (p.Gln278Lys)
c.928C>A (p.Gln310Lys)
c.979C>A (p.Gln327Lys)
c.883C>A (p.Gln295Lys)
c.259C>A (p.Gln87Lys)
c.1072C>A (p.Gln358Lys)
c.976C>A (p.Gln326Lys)
c.8370+134945G>T (n.8370+134945G>T)
2g.108907992C>ACA348051108EDAR,RANBP2c.831G>T (p.Glu277Asp)
c.927G>T (p.Glu309Asp)
c.978G>T (p.Glu326Asp)
c.882G>T (p.Glu294Asp)
c.258G>T (p.Glu86Asp)
c.1071G>T (p.Glu357Asp)
c.975G>T (p.Glu325Asp)
c.8370+134946C>A (n.8370+134946C>A)
2g.108907992C=CA1278358979EDAR,RANBP2c.831G= (p.Glu277=)
c.927G= (p.Glu309=)
c.978G= (p.Glu326=)
c.882G= (p.Glu294=)
c.258G= (p.Glu86=)
c.1071G= (p.Glu357=)
c.975G= (p.Glu325=)
c.8370+134946C= (n.8370+134946C=)
2g.108907992C>GCA348051109EDAR,RANBP2c.831G>C (p.Glu277Asp)
c.927G>C (p.Glu309Asp)
c.978G>C (p.Glu326Asp)
c.882G>C (p.Glu294Asp)
c.258G>C (p.Glu86Asp)
c.1071G>C (p.Glu357Asp)
c.975G>C (p.Glu325Asp)
c.8370+134946C>G (n.8370+134946C>G)
2g.108907992C>TCA1824907EDAR,RANBP2c.831G>A (p.Glu277=)
c.927G>A (p.Glu309=)
c.978G>A (p.Glu326=)
c.882G>A (p.Glu294=)
c.258G>A (p.Glu86=)
c.1071G>A (p.Glu357=)
c.975G>A (p.Glu325=)
c.8370+134946C>T (n.8370+134946C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907993T>ACA348051110EDAR,RANBP2c.830A>T (p.Glu277Val)
c.926A>T (p.Glu309Val)
c.977A>T (p.Glu326Val)
c.881A>T (p.Glu294Val)
c.257A>T (p.Glu86Val)
c.1070A>T (p.Glu357Val)
c.974A>T (p.Glu325Val)
c.8370+134947T>A (n.8370+134947T>A)
2g.108907993T>CCA348051111EDAR,RANBP2c.830A>G (p.Glu277Gly)
c.926A>G (p.Glu309Gly)
c.977A>G (p.Glu326Gly)
c.881A>G (p.Glu294Gly)
c.257A>G (p.Glu86Gly)
c.1070A>G (p.Glu357Gly)
c.974A>G (p.Glu325Gly)
c.8370+134947T>C (n.8370+134947T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108907993T>GCA348051112EDAR,RANBP2c.830A>C (p.Glu277Ala)
c.926A>C (p.Glu309Ala)
c.977A>C (p.Glu326Ala)
c.881A>C (p.Glu294Ala)
c.257A>C (p.Glu86Ala)
c.1070A>C (p.Glu357Ala)
c.974A>C (p.Glu325Ala)
c.8370+134947T>G (n.8370+134947T>G)
2g.108907993T=CA1278358980EDAR,RANBP2c.830A= (p.Glu277=)
c.926A= (p.Glu309=)
c.977A= (p.Glu326=)
c.881A= (p.Glu294=)
c.257A= (p.Glu86=)
c.1070A= (p.Glu357=)
c.974A= (p.Glu325=)
c.8370+134947T= (n.8370+134947T=)
2g.108907994C>ACA348051113EDAR,RANBP2c.829G>T (p.Glu277Ter)
c.925G>T (p.Glu309Ter)
c.976G>T (p.Glu326Ter)
c.880G>T (p.Glu294Ter)
c.256G>T (p.Glu86Ter)
c.1069G>T (p.Glu357Ter)
c.973G>T (p.Glu325Ter)
c.8370+134948C>A (n.8370+134948C>A)
2g.108907994C=CA1278358981EDAR,RANBP2c.829G= (p.Glu277=)
c.925G= (p.Glu309=)
c.976G= (p.Glu326=)
c.880G= (p.Glu294=)
c.256G= (p.Glu86=)
c.1069G= (p.Glu357=)
c.973G= (p.Glu325=)
c.8370+134948C= (n.8370+134948C=)
2g.108907994C>GCA348051115EDAR,RANBP2c.829G>C (p.Glu277Gln)
c.925G>C (p.Glu309Gln)
c.976G>C (p.Glu326Gln)
c.880G>C (p.Glu294Gln)
c.256G>C (p.Glu86Gln)
c.1069G>C (p.Glu357Gln)
c.973G>C (p.Glu325Gln)
c.8370+134948C>G (n.8370+134948C>G)
 gnomAD v4
2g.108907994C>TCA348051114EDAR,RANBP2c.829G>A (p.Glu277Lys)
c.925G>A (p.Glu309Lys)
c.976G>A (p.Glu326Lys)
c.880G>A (p.Glu294Lys)
c.256G>A (p.Glu86Lys)
c.1069G>A (p.Glu357Lys)
c.973G>A (p.Glu325Lys)
c.8370+134948C>T (n.8370+134948C>T)
 dbSNP
2g.108907995A=CA1278358982EDAR,RANBP2c.828T= (p.Asn276=)
c.924T= (p.Asn308=)
c.975T= (p.Asn325=)
c.879T= (p.Asn293=)
c.255T= (p.Asn85=)
c.1068T= (p.Asn356=)
c.972T= (p.Asn324=)
c.8370+134949A= (n.8370+134949A=)
2g.108907995A>CCA348051116EDAR,RANBP2c.828T>G (p.Asn276Lys)
c.924T>G (p.Asn308Lys)
c.975T>G (p.Asn325Lys)
c.879T>G (p.Asn293Lys)
c.255T>G (p.Asn85Lys)
c.1068T>G (p.Asn356Lys)
c.972T>G (p.Asn324Lys)
c.8370+134949A>C (n.8370+134949A>C)
2g.108907995A>GCA1824908EDAR,RANBP2c.828T>C (p.Asn276=)
c.924T>C (p.Asn308=)
c.975T>C (p.Asn325=)
c.879T>C (p.Asn293=)
c.255T>C (p.Asn85=)
c.1068T>C (p.Asn356=)
c.972T>C (p.Asn324=)
c.8370+134949A>G (n.8370+134949A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907995A>TCA348051117EDAR,RANBP2c.828T>A (p.Asn276Lys)
c.924T>A (p.Asn308Lys)
c.975T>A (p.Asn325Lys)
c.879T>A (p.Asn293Lys)
c.255T>A (p.Asn85Lys)
c.1068T>A (p.Asn356Lys)
c.972T>A (p.Asn324Lys)
c.8370+134949A>T (n.8370+134949A>T)
2g.108907996T>ACA348051118EDAR,RANBP2c.827A>T (p.Asn276Ile)
c.923A>T (p.Asn308Ile)
c.974A>T (p.Asn325Ile)
c.878A>T (p.Asn293Ile)
c.254A>T (p.Asn85Ile)
c.1067A>T (p.Asn356Ile)
c.971A>T (p.Asn324Ile)
c.8370+134950T>A (n.8370+134950T>A)
2g.108907996T>CCA348051119EDAR,RANBP2c.827A>G (p.Asn276Ser)
c.923A>G (p.Asn308Ser)
c.974A>G (p.Asn325Ser)
c.878A>G (p.Asn293Ser)
c.254A>G (p.Asn85Ser)
c.1067A>G (p.Asn356Ser)
c.971A>G (p.Asn324Ser)
c.8370+134950T>C (n.8370+134950T>C)
2g.108907996T>GCA348051120EDAR,RANBP2c.827A>C (p.Asn276Thr)
c.923A>C (p.Asn308Thr)
c.974A>C (p.Asn325Thr)
c.878A>C (p.Asn293Thr)
c.254A>C (p.Asn85Thr)
c.1067A>C (p.Asn356Thr)
c.971A>C (p.Asn324Thr)
c.8370+134950T>G (n.8370+134950T>G)
2g.108907997T>ACA348051121EDAR,RANBP2c.826A>T (p.Asn276Tyr)
c.922A>T (p.Asn308Tyr)
c.973A>T (p.Asn325Tyr)
c.877A>T (p.Asn293Tyr)
c.253A>T (p.Asn85Tyr)
c.1066A>T (p.Asn356Tyr)
c.970A>T (p.Asn324Tyr)
c.8370+134951T>A (n.8370+134951T>A)
2g.108907997T>CCA348051122EDAR,RANBP2c.826A>G (p.Asn276Asp)
c.922A>G (p.Asn308Asp)
c.973A>G (p.Asn325Asp)
c.877A>G (p.Asn293Asp)
c.253A>G (p.Asn85Asp)
c.1066A>G (p.Asn356Asp)
c.970A>G (p.Asn324Asp)
c.8370+134951T>C (n.8370+134951T>C)
 ClinVar dbSNP gnomAD v4
2g.108907997T>GCA348051123EDAR,RANBP2c.826A>C (p.Asn276His)
c.922A>C (p.Asn308His)
c.973A>C (p.Asn325His)
c.877A>C (p.Asn293His)
c.253A>C (p.Asn85His)
c.1066A>C (p.Asn356His)
c.970A>C (p.Asn324His)
c.8370+134951T>G (n.8370+134951T>G)
2g.108907998C>ACA348051124EDAR,RANBP2c.825G>T (p.Glu275Asp)
c.921G>T (p.Glu307Asp)
c.972G>T (p.Glu324Asp)
c.876G>T (p.Glu292Asp)
c.252G>T (p.Glu84Asp)
c.1065G>T (p.Glu355Asp)
c.969G>T (p.Glu323Asp)
c.8370+134952C>A (n.8370+134952C>A)
2g.108907998C>GCA348051125EDAR,RANBP2c.825G>C (p.Glu275Asp)
c.921G>C (p.Glu307Asp)
c.972G>C (p.Glu324Asp)
c.876G>C (p.Glu292Asp)
c.252G>C (p.Glu84Asp)
c.1065G>C (p.Glu355Asp)
c.969G>C (p.Glu323Asp)
c.8370+134952C>G (n.8370+134952C>G)
 gnomAD v4
2g.108907998C>TCA427911970EDAR,RANBP2c.825G>A (p.Glu275=)
c.921G>A (p.Glu307=)
c.972G>A (p.Glu324=)
c.876G>A (p.Glu292=)
c.252G>A (p.Glu84=)
c.1065G>A (p.Glu355=)
c.969G>A (p.Glu323=)
c.8370+134952C>T (n.8370+134952C>T)
 gnomAD v4
2g.108907999T>ACA348051127EDAR,RANBP2c.824A>T (p.Glu275Val)
c.920A>T (p.Glu307Val)
c.971A>T (p.Glu324Val)
c.875A>T (p.Glu292Val)
c.251A>T (p.Glu84Val)
c.1064A>T (p.Glu355Val)
c.968A>T (p.Glu323Val)
c.8370+134953T>A (n.8370+134953T>A)
2g.108907999T>CCA348051128EDAR,RANBP2c.824A>G (p.Glu275Gly)
c.920A>G (p.Glu307Gly)
c.971A>G (p.Glu324Gly)
c.875A>G (p.Glu292Gly)
c.251A>G (p.Glu84Gly)
c.1064A>G (p.Glu355Gly)
c.968A>G (p.Glu323Gly)
c.8370+134953T>C (n.8370+134953T>C)
2g.108907999T>GCA348051126EDAR,RANBP2c.824A>C (p.Glu275Ala)
c.920A>C (p.Glu307Ala)
c.971A>C (p.Glu324Ala)
c.875A>C (p.Glu292Ala)
c.251A>C (p.Glu84Ala)
c.1064A>C (p.Glu355Ala)
c.968A>C (p.Glu323Ala)
c.8370+134953T>G (n.8370+134953T>G)
2g.108908000C>ACA348051131EDAR,RANBP2c.823G>T (p.Glu275Ter)
c.919G>T (p.Glu307Ter)
c.970G>T (p.Glu324Ter)
c.874G>T (p.Glu292Ter)
c.250G>T (p.Glu84Ter)
c.1063G>T (p.Glu355Ter)
c.967G>T (p.Glu323Ter)
c.8370+134954C>A (n.8370+134954C>A)
2g.108908000C=CA1278358983EDAR,RANBP2c.823G= (p.Glu275=)
c.919G= (p.Glu307=)
c.970G= (p.Glu324=)
c.874G= (p.Glu292=)
c.250G= (p.Glu84=)
c.1063G= (p.Glu355=)
c.967G= (p.Glu323=)
c.8370+134954C= (n.8370+134954C=)
2g.108908000C>GCA348051129EDAR,RANBP2c.823G>C (p.Glu275Gln)
c.919G>C (p.Glu307Gln)
c.970G>C (p.Glu324Gln)
c.874G>C (p.Glu292Gln)
c.250G>C (p.Glu84Gln)
c.1063G>C (p.Glu355Gln)
c.967G>C (p.Glu323Gln)
c.8370+134954C>G (n.8370+134954C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108908000C>TCA348051130EDAR,RANBP2c.823G>A (p.Glu275Lys)
c.919G>A (p.Glu307Lys)
c.970G>A (p.Glu324Lys)
c.874G>A (p.Glu292Lys)
c.250G>A (p.Glu84Lys)
c.1063G>A (p.Glu355Lys)
c.967G>A (p.Glu323Lys)
c.8370+134954C>T (n.8370+134954C>T)
 gnomAD v4 COSMIC COSMIC
2g.108908001G>ACA1824910EDAR,RANBP2c.822C>T (p.Ser274=)
c.918C>T (p.Ser306=)
c.969C>T (p.Ser323=)
c.873C>T (p.Ser291=)
c.249C>T (p.Ser83=)
c.1062C>T (p.Ser354=)
c.966C>T (p.Ser322=)
c.8370+134955G>A (n.8370+134955G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908001G>CCA427911975EDAR,RANBP2c.822C>G (p.Ser274=)
c.918C>G (p.Ser306=)
c.969C>G (p.Ser323=)
c.873C>G (p.Ser291=)
c.249C>G (p.Ser83=)
c.1062C>G (p.Ser354=)
c.966C>G (p.Ser322=)
c.8370+134955G>C (n.8370+134955G>C)
2g.108908001G=CA1278358984EDAR,RANBP2c.822C= (p.Ser274=)
c.918C= (p.Ser306=)
c.969C= (p.Ser323=)
c.873C= (p.Ser291=)
c.249C= (p.Ser83=)
c.1062C= (p.Ser354=)
c.966C= (p.Ser322=)
c.8370+134955G= (n.8370+134955G=)
2g.108908001G>TCA1824909EDAR,RANBP2c.822C>A (p.Ser274=)
c.918C>A (p.Ser306=)
c.969C>A (p.Ser323=)
c.873C>A (p.Ser291=)
c.249C>A (p.Ser83=)
c.1062C>A (p.Ser354=)
c.966C>A (p.Ser322=)
c.8370+134955G>T (n.8370+134955G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908002G>ACA348051132EDAR,RANBP2c.821C>T (p.Ser274Phe)
c.917C>T (p.Ser306Phe)
c.968C>T (p.Ser323Phe)
c.872C>T (p.Ser291Phe)
c.248C>T (p.Ser83Phe)
c.1061C>T (p.Ser354Phe)
c.965C>T (p.Ser322Phe)
c.8370+134956G>A (n.8370+134956G>A)
2g.108908002G>CCA348051133EDAR,RANBP2c.821C>G (p.Ser274Cys)
c.917C>G (p.Ser306Cys)
c.968C>G (p.Ser323Cys)
c.872C>G (p.Ser291Cys)
c.248C>G (p.Ser83Cys)
c.1061C>G (p.Ser354Cys)
c.965C>G (p.Ser322Cys)
c.8370+134956G>C (n.8370+134956G>C)
2g.108908002G>TCA348051134EDAR,RANBP2c.821C>A (p.Ser274Tyr)
c.917C>A (p.Ser306Tyr)
c.968C>A (p.Ser323Tyr)
c.872C>A (p.Ser291Tyr)
c.248C>A (p.Ser83Tyr)
c.1061C>A (p.Ser354Tyr)
c.965C>A (p.Ser322Tyr)
c.8370+134956G>T (n.8370+134956G>T)
2g.108908003A=CA1278358985EDAR,RANBP2c.820T= (p.Ser274=)
c.916T= (p.Ser306=)
c.967T= (p.Ser323=)
c.871T= (p.Ser291=)
c.247T= (p.Ser83=)
c.1060T= (p.Ser354=)
c.964T= (p.Ser322=)
c.8370+134957A= (n.8370+134957A=)
2g.108908003A>CCA348051137EDAR,RANBP2c.820T>G (p.Ser274Ala)
c.916T>G (p.Ser306Ala)
c.967T>G (p.Ser323Ala)
c.871T>G (p.Ser291Ala)
c.247T>G (p.Ser83Ala)
c.1060T>G (p.Ser354Ala)
c.964T>G (p.Ser322Ala)
c.8370+134957A>C (n.8370+134957A>C)
2g.108908003A>GCA348051135EDAR,RANBP2c.820T>C (p.Ser274Pro)
c.916T>C (p.Ser306Pro)
c.967T>C (p.Ser323Pro)
c.871T>C (p.Ser291Pro)
c.247T>C (p.Ser83Pro)
c.1060T>C (p.Ser354Pro)
c.964T>C (p.Ser322Pro)
c.8370+134957A>G (n.8370+134957A>G)
2g.108908003A>TCA348051136EDAR,RANBP2c.820T>A (p.Ser274Thr)
c.916T>A (p.Ser306Thr)
c.967T>A (p.Ser323Thr)
c.871T>A (p.Ser291Thr)
c.247T>A (p.Ser83Thr)
c.1060T>A (p.Ser354Thr)
c.964T>A (p.Ser322Thr)
c.8370+134957A>T (n.8370+134957A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108908004T>ACA53473400EDAR,RANBP2c.819A>T (p.Ser273=)
c.915A>T (p.Ser305=)
c.966A>T (p.Ser322=)
c.870A>T (p.Ser290=)
c.246A>T (p.Ser82=)
c.1059A>T (p.Ser353=)
c.963A>T (p.Ser321=)
c.8370+134958T>A (n.8370+134958T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108908004T>CCA427911976EDAR,RANBP2c.819A>G (p.Ser273=)
c.915A>G (p.Ser305=)
c.966A>G (p.Ser322=)
c.870A>G (p.Ser290=)
c.246A>G (p.Ser82=)
c.1059A>G (p.Ser353=)
c.963A>G (p.Ser321=)
c.8370+134958T>C (n.8370+134958T>C)
2g.108908004T>GCA427911977EDAR,RANBP2c.819A>C (p.Ser273=)
c.915A>C (p.Ser305=)
c.966A>C (p.Ser322=)
c.870A>C (p.Ser290=)
c.246A>C (p.Ser82=)
c.1059A>C (p.Ser353=)
c.963A>C (p.Ser321=)
c.8370+134958T>G (n.8370+134958T>G)
2g.108908004T=CA1278358986EDAR,RANBP2c.819A= (p.Ser273=)
c.915A= (p.Ser305=)
c.966A= (p.Ser322=)
c.870A= (p.Ser290=)
c.246A= (p.Ser82=)
c.1059A= (p.Ser353=)
c.963A= (p.Ser321=)
c.8370+134958T= (n.8370+134958T=)
2g.108908005G>ACA348051138EDAR,RANBP2c.818C>T (p.Ser273Leu)
c.914C>T (p.Ser305Leu)
c.965C>T (p.Ser322Leu)
c.869C>T (p.Ser290Leu)
c.245C>T (p.Ser82Leu)
c.1058C>T (p.Ser353Leu)
c.962C>T (p.Ser321Leu)
c.8370+134959G>A (n.8370+134959G>A)
2g.108908005G>CCA348051139EDAR,RANBP2c.818C>G (p.Ser273Ter)
c.914C>G (p.Ser305Ter)
c.965C>G (p.Ser322Ter)
c.869C>G (p.Ser290Ter)
c.245C>G (p.Ser82Ter)
c.1058C>G (p.Ser353Ter)
c.962C>G (p.Ser321Ter)
c.8370+134959G>C (n.8370+134959G>C)
2g.108908005G>TCA348051140EDAR,RANBP2c.818C>A (p.Ser273Ter)
c.914C>A (p.Ser305Ter)
c.965C>A (p.Ser322Ter)
c.869C>A (p.Ser290Ter)
c.245C>A (p.Ser82Ter)
c.1058C>A (p.Ser353Ter)
c.962C>A (p.Ser321Ter)
c.8370+134959G>T (n.8370+134959G>T)
2g.108908006A>CCA348051141EDAR,RANBP2c.817T>G (p.Ser273Ala)
c.913T>G (p.Ser305Ala)
c.964T>G (p.Ser322Ala)
c.868T>G (p.Ser290Ala)
c.244T>G (p.Ser82Ala)
c.1057T>G (p.Ser353Ala)
c.961T>G (p.Ser321Ala)
c.8370+134960A>C (n.8370+134960A>C)
2g.108908006A>GCA348051142EDAR,RANBP2c.817T>C (p.Ser273Pro)
c.913T>C (p.Ser305Pro)
c.964T>C (p.Ser322Pro)
c.868T>C (p.Ser290Pro)
c.244T>C (p.Ser82Pro)
c.1057T>C (p.Ser353Pro)
c.961T>C (p.Ser321Pro)
c.8370+134960A>G (n.8370+134960A>G)
2g.108908006A>TCA348051143EDAR,RANBP2c.817T>A (p.Ser273Thr)
c.913T>A (p.Ser305Thr)
c.964T>A (p.Ser322Thr)
c.868T>A (p.Ser290Thr)
c.244T>A (p.Ser82Thr)
c.1057T>A (p.Ser353Thr)
c.961T>A (p.Ser321Thr)
c.8370+134960A>T (n.8370+134960A>T)
2g.108908007G>ACA427911978EDAR,RANBP2c.816C>T (p.Ala272=)
c.912C>T (p.Ala304=)
c.963C>T (p.Ala321=)
c.867C>T (p.Ala289=)
c.243C>T (p.Ala81=)
c.1056C>T (p.Ala352=)
c.960C>T (p.Ala320=)
c.8370+134961G>A (n.8370+134961G>A)
2g.108908007G>CCA427911979EDAR,RANBP2c.816C>G (p.Ala272=)
c.912C>G (p.Ala304=)
c.963C>G (p.Ala321=)
c.867C>G (p.Ala289=)
c.243C>G (p.Ala81=)
c.1056C>G (p.Ala352=)
c.960C>G (p.Ala320=)
c.8370+134961G>C (n.8370+134961G>C)
2g.108908007G>TCA427911980EDAR,RANBP2c.816C>A (p.Ala272=)
c.912C>A (p.Ala304=)
c.963C>A (p.Ala321=)
c.867C>A (p.Ala289=)
c.243C>A (p.Ala81=)
c.1056C>A (p.Ala352=)
c.960C>A (p.Ala320=)
c.8370+134961G>T (n.8370+134961G>T)
2g.108908008G>ACA348051144EDAR,RANBP2c.815C>T (p.Ala272Val)
c.911C>T (p.Ala304Val)
c.962C>T (p.Ala321Val)
c.866C>T (p.Ala289Val)
c.242C>T (p.Ala81Val)
c.1055C>T (p.Ala352Val)
c.959C>T (p.Ala320Val)
c.8370+134962G>A (n.8370+134962G>A)
 dbSNP gnomAD v4
2g.108908008G>CCA348051146EDAR,RANBP2c.815C>G (p.Ala272Gly)
c.911C>G (p.Ala304Gly)
c.962C>G (p.Ala321Gly)
c.866C>G (p.Ala289Gly)
c.242C>G (p.Ala81Gly)
c.1055C>G (p.Ala352Gly)
c.959C>G (p.Ala320Gly)
c.8370+134962G>C (n.8370+134962G>C)
2g.108908008G=CA1278358987EDAR,RANBP2c.815C= (p.Ala272=)
c.911C= (p.Ala304=)
c.962C= (p.Ala321=)
c.866C= (p.Ala289=)
c.242C= (p.Ala81=)
c.1055C= (p.Ala352=)
c.959C= (p.Ala320=)
c.8370+134962G= (n.8370+134962G=)
2g.108908008G>TCA348051145EDAR,RANBP2c.815C>A (p.Ala272Asp)
c.911C>A (p.Ala304Asp)
c.962C>A (p.Ala321Asp)
c.866C>A (p.Ala289Asp)
c.242C>A (p.Ala81Asp)
c.1055C>A (p.Ala352Asp)
c.959C>A (p.Ala320Asp)
c.8370+134962G>T (n.8370+134962G>T)
2g.108908009C>ACA348051147EDAR,RANBP2c.814G>T (p.Ala272Ser)
c.910G>T (p.Ala304Ser)
c.961G>T (p.Ala321Ser)
c.865G>T (p.Ala289Ser)
c.241G>T (p.Ala81Ser)
c.1054G>T (p.Ala352Ser)
c.958G>T (p.Ala320Ser)
c.8370+134963C>A (n.8370+134963C>A)
2g.108908009C>GCA348051148EDAR,RANBP2c.814G>C (p.Ala272Pro)
c.910G>C (p.Ala304Pro)
c.961G>C (p.Ala321Pro)
c.865G>C (p.Ala289Pro)
c.241G>C (p.Ala81Pro)
c.1054G>C (p.Ala352Pro)
c.958G>C (p.Ala320Pro)
c.8370+134963C>G (n.8370+134963C>G)
2g.108908009C>TCA348051149EDAR,RANBP2c.814G>A (p.Ala272Thr)
c.910G>A (p.Ala304Thr)
c.961G>A (p.Ala321Thr)
c.865G>A (p.Ala289Thr)
c.241G>A (p.Ala81Thr)
c.1054G>A (p.Ala352Thr)
c.958G>A (p.Ala320Thr)
c.8370+134963C>T (n.8370+134963C>T)
2g.108908010A=CA1278358988EDAR,RANBP2c.813T= (p.Asp271=)
c.909T= (p.Asp303=)
c.960T= (p.Asp320=)
c.864T= (p.Asp288=)
c.240T= (p.Asp80=)
c.1053T= (p.Asp351=)
c.957T= (p.Asp319=)
c.8370+134964A= (n.8370+134964A=)
2g.108908010A>CCA348051150EDAR,RANBP2c.813T>G (p.Asp271Glu)
c.909T>G (p.Asp303Glu)
c.960T>G (p.Asp320Glu)
c.864T>G (p.Asp288Glu)
c.240T>G (p.Asp80Glu)
c.1053T>G (p.Asp351Glu)
c.957T>G (p.Asp319Glu)
c.8370+134964A>C (n.8370+134964A>C)
2g.108908010A>GCA1824911EDAR,RANBP2c.813T>C (p.Asp271=)
c.909T>C (p.Asp303=)
c.960T>C (p.Asp320=)
c.864T>C (p.Asp288=)
c.240T>C (p.Asp80=)
c.1053T>C (p.Asp351=)
c.957T>C (p.Asp319=)
c.8370+134964A>G (n.8370+134964A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908010A>TCA348051151EDAR,RANBP2c.813T>A (p.Asp271Glu)
c.909T>A (p.Asp303Glu)
c.960T>A (p.Asp320Glu)
c.864T>A (p.Asp288Glu)
c.240T>A (p.Asp80Glu)
c.1053T>A (p.Asp351Glu)
c.957T>A (p.Asp319Glu)
c.8370+134964A>T (n.8370+134964A>T)
2g.108908011T>ACA348051152EDAR,RANBP2c.812A>T (p.Asp271Val)
c.908A>T (p.Asp303Val)
c.959A>T (p.Asp320Val)
c.863A>T (p.Asp288Val)
c.239A>T (p.Asp80Val)
c.1052A>T (p.Asp351Val)
c.956A>T (p.Asp319Val)
c.8370+134965T>A (n.8370+134965T>A)
2g.108908011T>CCA348051153EDAR,RANBP2c.812A>G (p.Asp271Gly)
c.908A>G (p.Asp303Gly)
c.959A>G (p.Asp320Gly)
c.863A>G (p.Asp288Gly)
c.239A>G (p.Asp80Gly)
c.1052A>G (p.Asp351Gly)
c.956A>G (p.Asp319Gly)
c.8370+134965T>C (n.8370+134965T>C)
2g.108908011T>GCA348051154EDAR,RANBP2c.812A>C (p.Asp271Ala)
c.908A>C (p.Asp303Ala)
c.959A>C (p.Asp320Ala)
c.863A>C (p.Asp288Ala)
c.239A>C (p.Asp80Ala)
c.1052A>C (p.Asp351Ala)
c.956A>C (p.Asp319Ala)
c.8370+134965T>G (n.8370+134965T>G)
2g.108908012C>ACA348051155EDAR,RANBP2c.811G>T (p.Asp271Tyr)
c.907G>T (p.Asp303Tyr)
c.958G>T (p.Asp320Tyr)
c.862G>T (p.Asp288Tyr)
c.238G>T (p.Asp80Tyr)
c.1051G>T (p.Asp351Tyr)
c.955G>T (p.Asp319Tyr)
c.8370+134966C>A (n.8370+134966C>A)
2g.108908012C=CA1278358989EDAR,RANBP2c.811G= (p.Asp271=)
c.907G= (p.Asp303=)
c.958G= (p.Asp320=)
c.862G= (p.Asp288=)
c.238G= (p.Asp80=)
c.1051G= (p.Asp351=)
c.955G= (p.Asp319=)
c.8370+134966C= (n.8370+134966C=)
2g.108908012C>GCA348051156EDAR,RANBP2c.811G>C (p.Asp271His)
c.907G>C (p.Asp303His)
c.958G>C (p.Asp320His)
c.862G>C (p.Asp288His)
c.238G>C (p.Asp80His)
c.1051G>C (p.Asp351His)
c.955G>C (p.Asp319His)
c.8370+134966C>G (n.8370+134966C>G)
2g.108908012C>TCA1824912EDAR,RANBP2c.811G>A (p.Asp271Asn)
c.907G>A (p.Asp303Asn)
c.958G>A (p.Asp320Asn)
c.862G>A (p.Asp288Asn)
c.238G>A (p.Asp80Asn)
c.1051G>A (p.Asp351Asn)
c.955G>A (p.Asp319Asn)
c.8370+134966C>T (n.8370+134966C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108908013G>ACA1824913EDAR,RANBP2c.810C>T (p.Asn270=)
c.906C>T (p.Asn302=)
c.957C>T (p.Asn319=)
c.861C>T (p.Asn287=)
c.237C>T (p.Asn79=)
c.1050C>T (p.Asn350=)
c.954C>T (p.Asn318=)
c.8370+134967G>A (n.8370+134967G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908013G>CCA348051157EDAR,RANBP2c.810C>G (p.Asn270Lys)
c.906C>G (p.Asn302Lys)
c.957C>G (p.Asn319Lys)
c.861C>G (p.Asn287Lys)
c.237C>G (p.Asn79Lys)
c.1050C>G (p.Asn350Lys)
c.954C>G (p.Asn318Lys)
c.8370+134967G>C (n.8370+134967G>C)
 COSMIC
2g.108908013G=CA1278358990EDAR,RANBP2c.810C= (p.Asn270=)
c.906C= (p.Asn302=)
c.957C= (p.Asn319=)
c.861C= (p.Asn287=)
c.237C= (p.Asn79=)
c.1050C= (p.Asn350=)
c.954C= (p.Asn318=)
c.8370+134967G= (n.8370+134967G=)
2g.108908013G>TCA348051158EDAR,RANBP2c.810C>A (p.Asn270Lys)
c.906C>A (p.Asn302Lys)
c.957C>A (p.Asn319Lys)
c.861C>A (p.Asn287Lys)
c.237C>A (p.Asn79Lys)
c.1050C>A (p.Asn350Lys)
c.954C>A (p.Asn318Lys)
c.8370+134967G>T (n.8370+134967G>T)
 gnomAD v4
2g.108908014T>ACA348051159EDAR,RANBP2c.809A>T (p.Asn270Ile)
c.905A>T (p.Asn302Ile)
c.956A>T (p.Asn319Ile)
c.860A>T (p.Asn287Ile)
c.236A>T (p.Asn79Ile)
c.1049A>T (p.Asn350Ile)
c.953A>T (p.Asn318Ile)
c.8370+134968T>A (n.8370+134968T>A)
2g.108908014T>CCA348051160EDAR,RANBP2c.809A>G (p.Asn270Ser)
c.905A>G (p.Asn302Ser)
c.956A>G (p.Asn319Ser)
c.860A>G (p.Asn287Ser)
c.236A>G (p.Asn79Ser)
c.1049A>G (p.Asn350Ser)
c.953A>G (p.Asn318Ser)
c.8370+134968T>C (n.8370+134968T>C)
2g.108908014T>GCA348051161EDAR,RANBP2c.809A>C (p.Asn270Thr)
c.905A>C (p.Asn302Thr)
c.956A>C (p.Asn319Thr)
c.860A>C (p.Asn287Thr)
c.236A>C (p.Asn79Thr)
c.1049A>C (p.Asn350Thr)
c.953A>C (p.Asn318Thr)
c.8370+134968T>G (n.8370+134968T>G)
2g.108908015T>ACA348051162EDAR,RANBP2c.808A>T (p.Asn270Tyr)
c.904A>T (p.Asn302Tyr)
c.955A>T (p.Asn319Tyr)
c.859A>T (p.Asn287Tyr)
c.235A>T (p.Asn79Tyr)
c.1048A>T (p.Asn350Tyr)
c.952A>T (p.Asn318Tyr)
c.8370+134969T>A (n.8370+134969T>A)
2g.108908015T>CCA348051163EDAR,RANBP2c.808A>G (p.Asn270Asp)
c.904A>G (p.Asn302Asp)
c.955A>G (p.Asn319Asp)
c.859A>G (p.Asn287Asp)
c.235A>G (p.Asn79Asp)
c.1048A>G (p.Asn350Asp)
c.952A>G (p.Asn318Asp)
c.8370+134969T>C (n.8370+134969T>C)
2g.108908015T>GCA348051164EDAR,RANBP2c.808A>C (p.Asn270His)
c.904A>C (p.Asn302His)
c.955A>C (p.Asn319His)
c.859A>C (p.Asn287His)
c.235A>C (p.Asn79His)
c.1048A>C (p.Asn350His)
c.952A>C (p.Asn318His)
c.8370+134969T>G (n.8370+134969T>G)
2g.108908016C>ACA348051166EDAR,RANBP2c.807G>T (p.Glu269Asp)
c.903G>T (p.Glu301Asp)
c.954G>T (p.Glu318Asp)
c.858G>T (p.Glu286Asp)
c.234G>T (p.Glu78Asp)
c.1047G>T (p.Glu349Asp)
c.951G>T (p.Glu317Asp)
c.8370+134970C>A (n.8370+134970C>A)
 gnomAD v4
2g.108908016C=CA1278358991EDAR,RANBP2c.807G= (p.Glu269=)
c.903G= (p.Glu301=)
c.954G= (p.Glu318=)
c.858G= (p.Glu286=)
c.234G= (p.Glu78=)
c.1047G= (p.Glu349=)
c.951G= (p.Glu317=)
c.8370+134970C= (n.8370+134970C=)
2g.108908016C>GCA348051165EDAR,RANBP2c.807G>C (p.Glu269Asp)
c.903G>C (p.Glu301Asp)
c.954G>C (p.Glu318Asp)
c.858G>C (p.Glu286Asp)
c.234G>C (p.Glu78Asp)
c.1047G>C (p.Glu349Asp)
c.951G>C (p.Glu317Asp)
c.8370+134970C>G (n.8370+134970C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108908016C>TCA427911981EDAR,RANBP2c.807G>A (p.Glu269=)
c.903G>A (p.Glu301=)
c.954G>A (p.Glu318=)
c.858G>A (p.Glu286=)
c.234G>A (p.Glu78=)
c.1047G>A (p.Glu349=)
c.951G>A (p.Glu317=)
c.8370+134970C>T (n.8370+134970C>T)
 gnomAD v4
2g.108908017T>ACA348051167EDAR,RANBP2c.806A>T (p.Glu269Val)
c.902A>T (p.Glu301Val)
c.953A>T (p.Glu318Val)
c.857A>T (p.Glu286Val)
c.233A>T (p.Glu78Val)
c.1046A>T (p.Glu349Val)
c.950A>T (p.Glu317Val)
c.8370+134971T>A (n.8370+134971T>A)
2g.108908017T>CCA348051168EDAR,RANBP2c.806A>G (p.Glu269Gly)
c.902A>G (p.Glu301Gly)
c.953A>G (p.Glu318Gly)
c.857A>G (p.Glu286Gly)
c.233A>G (p.Glu78Gly)
c.1046A>G (p.Glu349Gly)
c.950A>G (p.Glu317Gly)
c.8370+134971T>C (n.8370+134971T>C)
2g.108908017T>GCA348051169EDAR,RANBP2c.806A>C (p.Glu269Ala)
c.902A>C (p.Glu301Ala)
c.953A>C (p.Glu318Ala)
c.857A>C (p.Glu286Ala)
c.233A>C (p.Glu78Ala)
c.1046A>C (p.Glu349Ala)
c.950A>C (p.Glu317Ala)
c.8370+134971T>G (n.8370+134971T>G)
2g.108908018C>ACA348051170EDAR,RANBP2c.805G>T (p.Glu269Ter)
c.901G>T (p.Glu301Ter)
c.952G>T (p.Glu318Ter)
c.856G>T (p.Glu286Ter)
c.232G>T (p.Glu78Ter)
c.1045G>T (p.Glu349Ter)
c.949G>T (p.Glu317Ter)
c.8370+134972C>A (n.8370+134972C>A)
 gnomAD v4
2g.108908018C=CA1278358992EDAR,RANBP2c.805G= (p.Glu269=)
c.901G= (p.Glu301=)
c.952G= (p.Glu318=)
c.856G= (p.Glu286=)
c.232G= (p.Glu78=)
c.1045G= (p.Glu349=)
c.949G= (p.Glu317=)
c.8370+134972C= (n.8370+134972C=)
2g.108908018C>GCA348051171EDAR,RANBP2c.805G>C (p.Glu269Gln)
c.901G>C (p.Glu301Gln)
c.952G>C (p.Glu318Gln)
c.856G>C (p.Glu286Gln)
c.232G>C (p.Glu78Gln)
c.1045G>C (p.Glu349Gln)
c.949G>C (p.Glu317Gln)
c.8370+134972C>G (n.8370+134972C>G)
2g.108908018C>TCA348051172EDAR,RANBP2c.805G>A (p.Glu269Lys)
c.901G>A (p.Glu301Lys)
c.952G>A (p.Glu318Lys)
c.856G>A (p.Glu286Lys)
c.232G>A (p.Glu78Lys)
c.1045G>A (p.Glu349Lys)
c.949G>A (p.Glu317Lys)
c.8370+134972C>T (n.8370+134972C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108908019G>ACA1824914EDAR,RANBP2c.804C>T (p.Ser268=)
c.900C>T (p.Ser300=)
c.951C>T (p.Ser317=)
c.855C>T (p.Ser285=)
c.231C>T (p.Ser77=)
c.1044C>T (p.Ser348=)
c.948C>T (p.Ser316=)
c.8370+134973G>A (n.8370+134973G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108908019G>CCA348051173EDAR,RANBP2c.804C>G (p.Ser268Arg)
c.900C>G (p.Ser300Arg)
c.951C>G (p.Ser317Arg)
c.855C>G (p.Ser285Arg)
c.231C>G (p.Ser77Arg)
c.1044C>G (p.Ser348Arg)
c.948C>G (p.Ser316Arg)
c.8370+134973G>C (n.8370+134973G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108908019G=CA1278358993EDAR,RANBP2c.804C= (p.Ser268=)
c.900C= (p.Ser300=)
c.951C= (p.Ser317=)
c.855C= (p.Ser285=)
c.231C= (p.Ser77=)
c.1044C= (p.Ser348=)
c.948C= (p.Ser316=)
c.8370+134973G= (n.8370+134973G=)
2g.108908019G>TCA348051174EDAR,RANBP2c.804C>A (p.Ser268Arg)
c.900C>A (p.Ser300Arg)
c.951C>A (p.Ser317Arg)
c.855C>A (p.Ser285Arg)
c.231C>A (p.Ser77Arg)
c.1044C>A (p.Ser348Arg)
c.948C>A (p.Ser316Arg)
c.8370+134973G>T (n.8370+134973G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108908020C>ACA348051175EDAR,RANBP2c.804-1G>T (n.804-1G>T)
c.900-1G>T (n.900-1G>T)
c.951-1G>T (n.951-1G>T)
c.855-1G>T (n.855-1G>T)
c.231-1G>T (n.231-1G>T)
c.1044-1G>T (n.1044-1G>T)
c.948-1G>T (n.948-1G>T)
c.8370+134974C>A (n.8370+134974C>A)
2g.108908020C>GCA348051176EDAR,RANBP2c.804-1G>C (n.804-1G>C)
c.900-1G>C (n.900-1G>C)
c.951-1G>C (n.951-1G>C)
c.855-1G>C (n.855-1G>C)
c.231-1G>C (n.231-1G>C)
c.1044-1G>C (n.1044-1G>C)
c.948-1G>C (n.948-1G>C)
c.8370+134974C>G (n.8370+134974C>G)
2g.108908020C>TCA348051177EDAR,RANBP2c.804-1G>A (n.804-1G>A)
c.900-1G>A (n.900-1G>A)
c.951-1G>A (n.951-1G>A)
c.855-1G>A (n.855-1G>A)
c.231-1G>A (n.231-1G>A)
c.1044-1G>A (n.1044-1G>A)
c.948-1G>A (n.948-1G>A)
c.8370+134974C>T (n.8370+134974C>T)
2g.108908021T>ACA348051178EDAR,RANBP2c.804-2A>T (n.804-2A>T)
c.900-2A>T (n.900-2A>T)
c.951-2A>T (n.951-2A>T)
c.855-2A>T (n.855-2A>T)
c.231-2A>T (n.231-2A>T)
c.1044-2A>T (n.1044-2A>T)
c.948-2A>T (n.948-2A>T)
c.8370+134975T>A (n.8370+134975T>A)
2g.108908021T>CCA348051179EDAR,RANBP2c.804-2A>G (n.804-2A>G)
c.900-2A>G (n.900-2A>G)
c.951-2A>G (n.951-2A>G)
c.855-2A>G (n.855-2A>G)
c.231-2A>G (n.231-2A>G)
c.1044-2A>G (n.1044-2A>G)
c.948-2A>G (n.948-2A>G)
c.8370+134975T>C (n.8370+134975T>C)
2g.108908021T>GCA348051180EDAR,RANBP2c.804-2A>C (n.804-2A>C)
c.900-2A>C (n.900-2A>C)
c.951-2A>C (n.951-2A>C)
c.855-2A>C (n.855-2A>C)
c.231-2A>C (n.231-2A>C)
c.1044-2A>C (n.1044-2A>C)
c.948-2A>C (n.948-2A>C)
c.8370+134975T>G (n.8370+134975T>G)
2g.108908022G>ACA2660592731EDAR,RANBP2c.804-3C>T (n.804-3C>T)
c.900-3C>T (n.900-3C>T)
c.951-3C>T (n.951-3C>T)
c.855-3C>T (n.855-3C>T)
c.231-3C>T (n.231-3C>T)
c.1044-3C>T (n.1044-3C>T)
c.948-3C>T (n.948-3C>T)
c.8370+134976G>A (n.8370+134976G>A)
 gnomAD v4
2g.108908023C>ACA535180018EDAR,RANBP2c.804-4G>T (n.804-4G>T)
c.900-4G>T (n.900-4G>T)
c.951-4G>T (n.951-4G>T)
c.855-4G>T (n.855-4G>T)
c.231-4G>T (n.231-4G>T)
c.1044-4G>T (n.1044-4G>T)
c.948-4G>T (n.948-4G>T)
c.8370+134977C>A (n.8370+134977C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108908023C=CA1278358994EDAR,RANBP2c.804-4G= (n.804-4G=)
c.900-4G= (n.900-4G=)
c.951-4G= (n.951-4G=)
c.855-4G= (n.855-4G=)
c.231-4G= (n.231-4G=)
c.1044-4G= (n.1044-4G=)
c.948-4G= (n.948-4G=)
c.8370+134977C= (n.8370+134977C=)
2g.108908023C>TCA2660592733EDAR,RANBP2c.804-4G>A (n.804-4G>A)
c.900-4G>A (n.900-4G>A)
c.951-4G>A (n.951-4G>A)
c.855-4G>A (n.855-4G>A)
c.231-4G>A (n.231-4G>A)
c.1044-4G>A (n.1044-4G>A)
c.948-4G>A (n.948-4G>A)
c.8370+134977C>T (n.8370+134977C>T)
 gnomAD v4
2g.108908024A=CA1278358995EDAR,RANBP2c.804-5T= (n.804-5T=)
c.900-5T= (n.900-5T=)
c.951-5T= (n.951-5T=)
c.855-5T= (n.855-5T=)
c.231-5T= (n.231-5T=)
c.1044-5T= (n.1044-5T=)
c.948-5T= (n.948-5T=)
c.8370+134978A= (n.8370+134978A=)
2g.108908024A>CCA535180019EDAR,RANBP2c.804-5T>G (n.804-5T>G)
c.900-5T>G (n.900-5T>G)
c.951-5T>G (n.951-5T>G)
c.855-5T>G (n.855-5T>G)
c.231-5T>G (n.231-5T>G)
c.1044-5T>G (n.1044-5T>G)
c.948-5T>G (n.948-5T>G)
c.8370+134978A>C (n.8370+134978A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108908028delCA2660592736EDAR,RANBP2c.804-5del (n.804-5del)
c.900-5del (n.900-5del)
c.951-5del (n.951-5del)
c.855-5del (n.855-5del)
c.231-5del (n.231-5del)
c.1044-5del (n.1044-5del)
c.948-5del (n.948-5del)
c.8370+134982del (n.8370+134982del)
 gnomAD v4
2g.108908025A=CA1278358996EDAR,RANBP2c.804-6T= (n.804-6T=)
c.900-6T= (n.900-6T=)
c.951-6T= (n.951-6T=)
c.855-6T= (n.855-6T=)
c.231-6T= (n.231-6T=)
c.1044-6T= (n.1044-6T=)
c.948-6T= (n.948-6T=)
c.8370+134979A= (n.8370+134979A=)
2g.108908025A>GCA1278358997EDAR,RANBP2c.804-6T>C (n.804-6T>C)
c.900-6T>C (n.900-6T>C)
c.951-6T>C (n.951-6T>C)
c.855-6T>C (n.855-6T>C)
c.231-6T>C (n.231-6T>C)
c.1044-6T>C (n.1044-6T>C)
c.948-6T>C (n.948-6T>C)
c.8370+134979A>G (n.8370+134979A>G)
 dbSNP
2g.108908027A>CCA2660592738EDAR,RANBP2c.804-8T>G (n.804-8T>G)
c.900-8T>G (n.900-8T>G)
c.951-8T>G (n.951-8T>G)
c.855-8T>G (n.855-8T>G)
c.231-8T>G (n.231-8T>G)
c.1044-8T>G (n.1044-8T>G)
c.948-8T>G (n.948-8T>G)
c.8370+134981A>C (n.8370+134981A>C)
 gnomAD v4
2g.108908028A=CA1278358999EDAR,RANBP2c.804-9T= (n.804-9T=)
c.900-9T= (n.900-9T=)
c.951-9T= (n.951-9T=)
c.855-9T= (n.855-9T=)
c.231-9T= (n.231-9T=)
c.1044-9T= (n.1044-9T=)
c.948-9T= (n.948-9T=)
c.8370+134982A= (n.8370+134982A=)
2g.108908028A>GCA535180020EDAR,RANBP2c.804-9T>C (n.804-9T>C)
c.900-9T>C (n.900-9T>C)
c.951-9T>C (n.951-9T>C)
c.855-9T>C (n.855-9T>C)
c.231-9T>C (n.231-9T>C)
c.1044-9T>C (n.1044-9T>C)
c.948-9T>C (n.948-9T>C)
c.8370+134982A>G (n.8370+134982A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108908028A>TCA1278358998EDAR,RANBP2c.804-9T>A (n.804-9T>A)
c.900-9T>A (n.900-9T>A)
c.951-9T>A (n.951-9T>A)
c.855-9T>A (n.855-9T>A)
c.231-9T>A (n.231-9T>A)
c.1044-9T>A (n.1044-9T>A)
c.948-9T>A (n.948-9T>A)
c.8370+134982A>T (n.8370+134982A>T)
 dbSNP gnomAD v4
2g.108908029C=CA1278359001EDAR,RANBP2c.804-10G= (n.804-10G=)
c.900-10G= (n.900-10G=)
c.951-10G= (n.951-10G=)
c.855-10G= (n.855-10G=)
c.231-10G= (n.231-10G=)
c.1044-10G= (n.1044-10G=)
c.948-10G= (n.948-10G=)
c.8370+134983C= (n.8370+134983C=)
2g.108908029C>TCA754961390EDAR,RANBP2c.804-10G>A (n.804-10G>A)
c.900-10G>A (n.900-10G>A)
c.951-10G>A (n.951-10G>A)
c.855-10G>A (n.855-10G>A)
c.231-10G>A (n.231-10G>A)
c.1044-10G>A (n.1044-10G>A)
c.948-10G>A (n.948-10G>A)
c.8370+134983C>T (n.8370+134983C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108908029_108908031delinsCAACA1278359000EDAR,RANBP2c.804-12_804-10delinsTTG (n.804-12_804-10delinsTTG)
c.900-12_900-10delinsTTG (n.900-12_900-10delinsTTG)
c.951-12_951-10delinsTTG (n.951-12_951-10delinsTTG)
c.855-12_855-10delinsTTG (n.855-12_855-10delinsTTG)
c.231-12_231-10delinsTTG (n.231-12_231-10delinsTTG)
c.1044-12_1044-10delinsTTG (n.1044-12_1044-10delinsTTG)
c.948-12_948-10delinsTTG (n.948-12_948-10delinsTTG)
c.8370+134983_8370+134985delinsCAA (n.8370+134983_8370+134985delinsCAA)
2g.108908030A=CA1278359002EDAR,RANBP2c.804-11T= (n.804-11T=)
c.900-11T= (n.900-11T=)
c.951-11T= (n.951-11T=)
c.855-11T= (n.855-11T=)
c.231-11T= (n.231-11T=)
c.1044-11T= (n.1044-11T=)
c.948-11T= (n.948-11T=)
c.8370+134984A= (n.8370+134984A=)
2g.108908030A>GCA1824916EDAR,RANBP2c.804-11T>C (n.804-11T>C)
c.900-11T>C (n.900-11T>C)
c.951-11T>C (n.951-11T>C)
c.855-11T>C (n.855-11T>C)
c.231-11T>C (n.231-11T>C)
c.1044-11T>C (n.1044-11T>C)
c.948-11T>C (n.948-11T>C)
c.8370+134984A>G (n.8370+134984A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908030_108908031delCA1824915EDAR,RANBP2c.804-12_804-11del (n.804-12_804-11del)
c.900-12_900-11del (n.900-12_900-11del)
c.951-12_951-11del (n.951-12_951-11del)
c.855-12_855-11del (n.855-12_855-11del)
c.231-12_231-11del (n.231-12_231-11del)
c.1044-12_1044-11del (n.1044-12_1044-11del)
c.948-12_948-11del (n.948-12_948-11del)
c.8370+134984_8370+134985del (n.8370+134984_8370+134985del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908031A=CA1278359003EDAR,RANBP2c.804-12T= (n.804-12T=)
c.900-12T= (n.900-12T=)
c.951-12T= (n.951-12T=)
c.855-12T= (n.855-12T=)
c.231-12T= (n.231-12T=)
c.1044-12T= (n.1044-12T=)
c.948-12T= (n.948-12T=)
c.8370+134985A= (n.8370+134985A=)
2g.108908031A>GCA53473441EDAR,RANBP2c.804-12T>C (n.804-12T>C)
c.900-12T>C (n.900-12T>C)
c.951-12T>C (n.951-12T>C)
c.855-12T>C (n.855-12T>C)
c.231-12T>C (n.231-12T>C)
c.1044-12T>C (n.1044-12T>C)
c.948-12T>C (n.948-12T>C)
c.8370+134985A>G (n.8370+134985A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108908032G>ACA2751632624EDAR,RANBP2c.804-13C>T (n.804-13C>T)
c.900-13C>T (n.900-13C>T)
c.951-13C>T (n.951-13C>T)
c.855-13C>T (n.855-13C>T)
c.231-13C>T (n.231-13C>T)
c.1044-13C>T (n.1044-13C>T)
c.948-13C>T (n.948-13C>T)
c.8370+134986G>A (n.8370+134986G>A)
2g.108908032G>TCA2660592743EDAR,RANBP2c.804-13C>A (n.804-13C>A)
c.900-13C>A (n.900-13C>A)
c.951-13C>A (n.951-13C>A)
c.855-13C>A (n.855-13C>A)
c.231-13C>A (n.231-13C>A)
c.1044-13C>A (n.1044-13C>A)
c.948-13C>A (n.948-13C>A)
c.8370+134986G>T (n.8370+134986G>T)
 gnomAD v4
2g.108908032_108908033delinsGACA1278359004EDAR,RANBP2c.804-14_804-13delinsTC (n.804-14_804-13delinsTC)
c.900-14_900-13delinsTC (n.900-14_900-13delinsTC)
c.951-14_951-13delinsTC (n.951-14_951-13delinsTC)
c.855-14_855-13delinsTC (n.855-14_855-13delinsTC)
c.231-14_231-13delinsTC (n.231-14_231-13delinsTC)
c.1044-14_1044-13delinsTC (n.1044-14_1044-13delinsTC)
c.948-14_948-13delinsTC (n.948-14_948-13delinsTC)
c.8370+134986_8370+134987delinsGA (n.8370+134986_8370+134987delinsGA)
2g.108908033delCA535180021EDAR,RANBP2c.804-14del (n.804-14del)
c.900-14del (n.900-14del)
c.951-14del (n.951-14del)
c.855-14del (n.855-14del)
c.231-14del (n.231-14del)
c.1044-14del (n.1044-14del)
c.948-14del (n.948-14del)
c.8370+134987del (n.8370+134987del)
 dbSNP gnomAD v2 gnomAD v4
2g.108908033A=CA1278359005EDAR,RANBP2c.804-14T= (n.804-14T=)
c.900-14T= (n.900-14T=)
c.951-14T= (n.951-14T=)
c.855-14T= (n.855-14T=)
c.231-14T= (n.231-14T=)
c.1044-14T= (n.1044-14T=)
c.948-14T= (n.948-14T=)
c.8370+134987A= (n.8370+134987A=)
2g.108908033A>CCA1278359006EDAR,RANBP2c.804-14T>G (n.804-14T>G)
c.900-14T>G (n.900-14T>G)
c.951-14T>G (n.951-14T>G)
c.855-14T>G (n.855-14T>G)
c.231-14T>G (n.231-14T>G)
c.1044-14T>G (n.1044-14T>G)
c.948-14T>G (n.948-14T>G)
c.8370+134987A>C (n.8370+134987A>C)
 dbSNP
2g.108908034G>ACA53473445EDAR,RANBP2c.804-15C>T (n.804-15C>T)
c.900-15C>T (n.900-15C>T)
c.951-15C>T (n.951-15C>T)
c.855-15C>T (n.855-15C>T)
c.231-15C>T (n.231-15C>T)
c.1044-15C>T (n.1044-15C>T)
c.948-15C>T (n.948-15C>T)
c.8370+134988G>A (n.8370+134988G>A)
 dbSNP gnomAD v4
2g.108908034G=CA1278359007EDAR,RANBP2c.804-15C= (n.804-15C=)
c.900-15C= (n.900-15C=)
c.951-15C= (n.951-15C=)
c.855-15C= (n.855-15C=)
c.231-15C= (n.231-15C=)
c.1044-15C= (n.1044-15C=)
c.948-15C= (n.948-15C=)
c.8370+134988G= (n.8370+134988G=)
2g.108908035C>ACA2660592744EDAR,RANBP2c.804-16G>T (n.804-16G>T)
c.900-16G>T (n.900-16G>T)
c.951-16G>T (n.951-16G>T)
c.855-16G>T (n.855-16G>T)
c.231-16G>T (n.231-16G>T)
c.1044-16G>T (n.1044-16G>T)
c.948-16G>T (n.948-16G>T)
c.8370+134989C>A (n.8370+134989C>A)
 gnomAD v4
2g.108908035C=CA1278359008EDAR,RANBP2c.804-16G= (n.804-16G=)
c.900-16G= (n.900-16G=)
c.951-16G= (n.951-16G=)
c.855-16G= (n.855-16G=)
c.231-16G= (n.231-16G=)
c.1044-16G= (n.1044-16G=)
c.948-16G= (n.948-16G=)
c.8370+134989C= (n.8370+134989C=)
2g.108908035C>GCA535180022EDAR,RANBP2c.804-16G>C (n.804-16G>C)
c.900-16G>C (n.900-16G>C)
c.951-16G>C (n.951-16G>C)
c.855-16G>C (n.855-16G>C)
c.231-16G>C (n.231-16G>C)
c.1044-16G>C (n.1044-16G>C)
c.948-16G>C (n.948-16G>C)
c.8370+134989C>G (n.8370+134989C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108908035C>TCA1824917EDAR,RANBP2c.804-16G>A (n.804-16G>A)
c.900-16G>A (n.900-16G>A)
c.951-16G>A (n.951-16G>A)
c.855-16G>A (n.855-16G>A)
c.231-16G>A (n.231-16G>A)
c.1044-16G>A (n.1044-16G>A)
c.948-16G>A (n.948-16G>A)
c.8370+134989C>T (n.8370+134989C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908036G>ACA1824918EDAR,RANBP2c.804-17C>T (n.804-17C>T)
c.900-17C>T (n.900-17C>T)
c.951-17C>T (n.951-17C>T)
c.855-17C>T (n.855-17C>T)
c.231-17C>T (n.231-17C>T)
c.1044-17C>T (n.1044-17C>T)
c.948-17C>T (n.948-17C>T)
c.8370+134990G>A (n.8370+134990G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108908036G=CA1278359009EDAR,RANBP2c.804-17C= (n.804-17C=)
c.900-17C= (n.900-17C=)
c.951-17C= (n.951-17C=)
c.855-17C= (n.855-17C=)
c.231-17C= (n.231-17C=)
c.1044-17C= (n.1044-17C=)
c.948-17C= (n.948-17C=)
c.8370+134990G= (n.8370+134990G=)
2g.108908036G>TCA2660592745EDAR,RANBP2c.804-17C>A (n.804-17C>A)
c.900-17C>A (n.900-17C>A)
c.951-17C>A (n.951-17C>A)
c.855-17C>A (n.855-17C>A)
c.231-17C>A (n.231-17C>A)
c.1044-17C>A (n.1044-17C>A)
c.948-17C>A (n.948-17C>A)
c.8370+134990G>T (n.8370+134990G>T)
 gnomAD v4
2g.108908038T>ACA535180023EDAR,RANBP2c.804-19A>T (n.804-19A>T)
c.900-19A>T (n.900-19A>T)
c.951-19A>T (n.951-19A>T)
c.855-19A>T (n.855-19A>T)
c.231-19A>T (n.231-19A>T)
c.1044-19A>T (n.1044-19A>T)
c.948-19A>T (n.948-19A>T)
c.8370+134992T>A (n.8370+134992T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108908038T=CA1278359010EDAR,RANBP2c.804-19A= (n.804-19A=)
c.900-19A= (n.900-19A=)
c.951-19A= (n.951-19A=)
c.855-19A= (n.855-19A=)
c.231-19A= (n.231-19A=)
c.1044-19A= (n.1044-19A=)
c.948-19A= (n.948-19A=)
c.8370+134992T= (n.8370+134992T=)
2g.108908039G>ACA2660592747EDAR,RANBP2c.804-20C>T (n.804-20C>T)
c.900-20C>T (n.900-20C>T)
c.951-20C>T (n.951-20C>T)
c.855-20C>T (n.855-20C>T)
c.231-20C>T (n.231-20C>T)
c.1044-20C>T (n.1044-20C>T)
c.948-20C>T (n.948-20C>T)
c.8370+134993G>A (n.8370+134993G>A)
 gnomAD v4
2g.108908040dupCA2751632625EDAR,RANBP2c.804-20dup (n.804-20dup)
c.900-20dup (n.900-20dup)
c.951-20dup (n.951-20dup)
c.855-20dup (n.855-20dup)
c.231-20dup (n.231-20dup)
c.1044-20dup (n.1044-20dup)
c.948-20dup (n.948-20dup)
c.8370+134994dup (n.8370+134994dup)
2g.108908042C>ACA2660592748EDAR,RANBP2c.804-23G>T (n.804-23G>T)
c.900-23G>T (n.900-23G>T)
c.951-23G>T (n.951-23G>T)
c.855-23G>T (n.855-23G>T)
c.231-23G>T (n.231-23G>T)
c.1044-23G>T (n.1044-23G>T)
c.948-23G>T (n.948-23G>T)
c.8370+134996C>A (n.8370+134996C>A)
 gnomAD v4
2g.108908042C>TCA2660592750EDAR,RANBP2c.804-23G>A (n.804-23G>A)
c.900-23G>A (n.900-23G>A)
c.951-23G>A (n.951-23G>A)
c.855-23G>A (n.855-23G>A)
c.231-23G>A (n.231-23G>A)
c.1044-23G>A (n.1044-23G>A)
c.948-23G>A (n.948-23G>A)
c.8370+134996C>T (n.8370+134996C>T)
 gnomAD v4
2g.108908043A>GCA2660592752EDAR,RANBP2c.804-24T>C (n.804-24T>C)
c.900-24T>C (n.900-24T>C)
c.951-24T>C (n.951-24T>C)
c.855-24T>C (n.855-24T>C)
c.231-24T>C (n.231-24T>C)
c.1044-24T>C (n.1044-24T>C)
c.948-24T>C (n.948-24T>C)
c.8370+134997A>G (n.8370+134997A>G)
 gnomAD v4
2g.108908044T>CCA2660592754EDAR,RANBP2c.804-25A>G (n.804-25A>G)
c.900-25A>G (n.900-25A>G)
c.951-25A>G (n.951-25A>G)
c.855-25A>G (n.855-25A>G)
c.231-25A>G (n.231-25A>G)
c.1044-25A>G (n.1044-25A>G)
c.948-25A>G (n.948-25A>G)
c.8370+134998T>C (n.8370+134998T>C)
 gnomAD v4
2g.108908048C>ACA2660592756EDAR,RANBP2c.804-29G>T (n.804-29G>T)
c.900-29G>T (n.900-29G>T)
c.951-29G>T (n.951-29G>T)
c.855-29G>T (n.855-29G>T)
c.231-29G>T (n.231-29G>T)
c.1044-29G>T (n.1044-29G>T)
c.948-29G>T (n.948-29G>T)
c.8370+135002C>A (n.8370+135002C>A)
 gnomAD v4
2g.108908048C>TCA2660592758EDAR,RANBP2c.804-29G>A (n.804-29G>A)
c.900-29G>A (n.900-29G>A)
c.951-29G>A (n.951-29G>A)
c.855-29G>A (n.855-29G>A)
c.231-29G>A (n.231-29G>A)
c.1044-29G>A (n.1044-29G>A)
c.948-29G>A (n.948-29G>A)
c.8370+135002C>T (n.8370+135002C>T)
 gnomAD v4

Number of alleles fetched