Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108907881G>ACA427911787EDAR,RANBP2c.942C>T (p.Ala314=)
c.1038C>T (p.Ala346=)
c.1089C>T (p.Ala363=)
c.993C>T (p.Ala331=)
c.369C>T (p.Ala123=)
c.1182C>T (p.Ala394=)
c.1086C>T (p.Ala362=)
c.8370+134835G>A (n.8370+134835G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108907881G>CCA427911788EDAR,RANBP2c.942C>G (p.Ala314=)
c.1038C>G (p.Ala346=)
c.1089C>G (p.Ala363=)
c.993C>G (p.Ala331=)
c.369C>G (p.Ala123=)
c.1182C>G (p.Ala394=)
c.1086C>G (p.Ala362=)
c.8370+134835G>C (n.8370+134835G>C)
2g.108907881G=CA1278358939EDAR,RANBP2c.942C= (p.Ala314=)
c.1038C= (p.Ala346=)
c.1089C= (p.Ala363=)
c.993C= (p.Ala331=)
c.369C= (p.Ala123=)
c.1182C= (p.Ala394=)
c.1086C= (p.Ala362=)
c.8370+134835G= (n.8370+134835G=)
2g.108907881G>TCA427911789EDAR,RANBP2c.942C>A (p.Ala314=)
c.1038C>A (p.Ala346=)
c.1089C>A (p.Ala363=)
c.993C>A (p.Ala331=)
c.369C>A (p.Ala123=)
c.1182C>A (p.Ala394=)
c.1086C>A (p.Ala362=)
c.8370+134835G>T (n.8370+134835G>T)
2g.108907882G>ACA348050764EDAR,RANBP2c.941C>T (p.Ala314Val)
c.1037C>T (p.Ala346Val)
c.1088C>T (p.Ala363Val)
c.992C>T (p.Ala331Val)
c.368C>T (p.Ala123Val)
c.1181C>T (p.Ala394Val)
c.1085C>T (p.Ala362Val)
c.8370+134836G>A (n.8370+134836G>A)
2g.108907882G>CCA348050768EDAR,RANBP2c.941C>G (p.Ala314Gly)
c.1037C>G (p.Ala346Gly)
c.1088C>G (p.Ala363Gly)
c.992C>G (p.Ala331Gly)
c.368C>G (p.Ala123Gly)
c.1181C>G (p.Ala394Gly)
c.1085C>G (p.Ala362Gly)
c.8370+134836G>C (n.8370+134836G>C)
2g.108907882G>TCA348050766EDAR,RANBP2c.941C>A (p.Ala314Asp)
c.1037C>A (p.Ala346Asp)
c.1088C>A (p.Ala363Asp)
c.992C>A (p.Ala331Asp)
c.368C>A (p.Ala123Asp)
c.1181C>A (p.Ala394Asp)
c.1085C>A (p.Ala362Asp)
c.8370+134836G>T (n.8370+134836G>T)
2g.108907883C>ACA348050769EDAR,RANBP2c.940G>T (p.Ala314Ser)
c.1036G>T (p.Ala346Ser)
c.1087G>T (p.Ala363Ser)
c.991G>T (p.Ala331Ser)
c.367G>T (p.Ala123Ser)
c.1180G>T (p.Ala394Ser)
c.1084G>T (p.Ala362Ser)
c.8370+134837C>A (n.8370+134837C>A)
2g.108907883C>GCA348050771EDAR,RANBP2c.940G>C (p.Ala314Pro)
c.1036G>C (p.Ala346Pro)
c.1087G>C (p.Ala363Pro)
c.991G>C (p.Ala331Pro)
c.367G>C (p.Ala123Pro)
c.1180G>C (p.Ala394Pro)
c.1084G>C (p.Ala362Pro)
c.8370+134837C>G (n.8370+134837C>G)
2g.108907883C>TCA348050772EDAR,RANBP2c.940G>A (p.Ala314Thr)
c.1036G>A (p.Ala346Thr)
c.1087G>A (p.Ala363Thr)
c.991G>A (p.Ala331Thr)
c.367G>A (p.Ala123Thr)
c.1180G>A (p.Ala394Thr)
c.1084G>A (p.Ala362Thr)
c.8370+134837C>T (n.8370+134837C>T)
2g.108907884A>CCA427911790EDAR,RANBP2c.939T>G (p.Ser313=)
c.1035T>G (p.Ser345=)
c.1086T>G (p.Ser362=)
c.990T>G (p.Ser330=)
c.366T>G (p.Ser122=)
c.1179T>G (p.Ser393=)
c.1083T>G (p.Ser361=)
c.8370+134838A>C (n.8370+134838A>C)
2g.108907884A>GCA427911791EDAR,RANBP2c.939T>C (p.Ser313=)
c.1035T>C (p.Ser345=)
c.1086T>C (p.Ser362=)
c.990T>C (p.Ser330=)
c.366T>C (p.Ser122=)
c.1179T>C (p.Ser393=)
c.1083T>C (p.Ser361=)
c.8370+134838A>G (n.8370+134838A>G)
 gnomAD v4
2g.108907884A>TCA427911792EDAR,RANBP2c.939T>A (p.Ser313=)
c.1035T>A (p.Ser345=)
c.1086T>A (p.Ser362=)
c.990T>A (p.Ser330=)
c.366T>A (p.Ser122=)
c.1179T>A (p.Ser393=)
c.1083T>A (p.Ser361=)
c.8370+134838A>T (n.8370+134838A>T)
2g.108907885G>ACA348050774EDAR,RANBP2c.938C>T (p.Ser313Phe)
c.1034C>T (p.Ser345Phe)
c.1085C>T (p.Ser362Phe)
c.989C>T (p.Ser330Phe)
c.365C>T (p.Ser122Phe)
c.1178C>T (p.Ser393Phe)
c.1082C>T (p.Ser361Phe)
c.8370+134839G>A (n.8370+134839G>A)
2g.108907885G>CCA348050776EDAR,RANBP2c.938C>G (p.Ser313Cys)
c.1034C>G (p.Ser345Cys)
c.1085C>G (p.Ser362Cys)
c.989C>G (p.Ser330Cys)
c.365C>G (p.Ser122Cys)
c.1178C>G (p.Ser393Cys)
c.1082C>G (p.Ser361Cys)
c.8370+134839G>C (n.8370+134839G>C)
2g.108907885G>TCA348050777EDAR,RANBP2c.938C>A (p.Ser313Tyr)
c.1034C>A (p.Ser345Tyr)
c.1085C>A (p.Ser362Tyr)
c.989C>A (p.Ser330Tyr)
c.365C>A (p.Ser122Tyr)
c.1178C>A (p.Ser393Tyr)
c.1082C>A (p.Ser361Tyr)
c.8370+134839G>T (n.8370+134839G>T)
2g.108907886A>CCA348050779EDAR,RANBP2c.937T>G (p.Ser313Ala)
c.1033T>G (p.Ser345Ala)
c.1084T>G (p.Ser362Ala)
c.988T>G (p.Ser330Ala)
c.364T>G (p.Ser122Ala)
c.1177T>G (p.Ser393Ala)
c.1081T>G (p.Ser361Ala)
c.8370+134840A>C (n.8370+134840A>C)
2g.108907886A>GCA348050780EDAR,RANBP2c.937T>C (p.Ser313Pro)
c.1033T>C (p.Ser345Pro)
c.1084T>C (p.Ser362Pro)
c.988T>C (p.Ser330Pro)
c.364T>C (p.Ser122Pro)
c.1177T>C (p.Ser393Pro)
c.1081T>C (p.Ser361Pro)
c.8370+134840A>G (n.8370+134840A>G)
2g.108907886A>TCA348050781EDAR,RANBP2c.937T>A (p.Ser313Thr)
c.1033T>A (p.Ser345Thr)
c.1084T>A (p.Ser362Thr)
c.988T>A (p.Ser330Thr)
c.364T>A (p.Ser122Thr)
c.1177T>A (p.Ser393Thr)
c.1081T>A (p.Ser361Thr)
c.8370+134840A>T (n.8370+134840A>T)
2g.108907887C>ACA348050783EDAR,RANBP2c.936G>T (p.Lys312Asn)
c.1032G>T (p.Lys344Asn)
c.1083G>T (p.Lys361Asn)
c.987G>T (p.Lys329Asn)
c.363G>T (p.Lys121Asn)
c.1176G>T (p.Lys392Asn)
c.1080G>T (p.Lys360Asn)
c.8370+134841C>A (n.8370+134841C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108907887C=CA1278358940EDAR,RANBP2c.936G= (p.Lys312=)
c.1032G= (p.Lys344=)
c.1083G= (p.Lys361=)
c.987G= (p.Lys329=)
c.363G= (p.Lys121=)
c.1176G= (p.Lys392=)
c.1080G= (p.Lys360=)
c.8370+134841C= (n.8370+134841C=)
2g.108907887C>GCA348050785EDAR,RANBP2c.936G>C (p.Lys312Asn)
c.1032G>C (p.Lys344Asn)
c.1083G>C (p.Lys361Asn)
c.987G>C (p.Lys329Asn)
c.363G>C (p.Lys121Asn)
c.1176G>C (p.Lys392Asn)
c.1080G>C (p.Lys360Asn)
c.8370+134841C>G (n.8370+134841C>G)
 dbSNP COSMIC COSMIC
2g.108907887C>TCA427911793EDAR,RANBP2c.936G>A (p.Lys312=)
c.1032G>A (p.Lys344=)
c.1083G>A (p.Lys361=)
c.987G>A (p.Lys329=)
c.363G>A (p.Lys121=)
c.1176G>A (p.Lys392=)
c.1080G>A (p.Lys360=)
c.8370+134841C>T (n.8370+134841C>T)
2g.108907888T>ACA348050788EDAR,RANBP2c.935A>T (p.Lys312Met)
c.1031A>T (p.Lys344Met)
c.1082A>T (p.Lys361Met)
c.986A>T (p.Lys329Met)
c.362A>T (p.Lys121Met)
c.1175A>T (p.Lys392Met)
c.1079A>T (p.Lys360Met)
c.8370+134842T>A (n.8370+134842T>A)
2g.108907888T>CCA348050790EDAR,RANBP2c.935A>G (p.Lys312Arg)
c.1031A>G (p.Lys344Arg)
c.1082A>G (p.Lys361Arg)
c.986A>G (p.Lys329Arg)
c.362A>G (p.Lys121Arg)
c.1175A>G (p.Lys392Arg)
c.1079A>G (p.Lys360Arg)
c.8370+134842T>C (n.8370+134842T>C)
2g.108907888T>GCA348050787EDAR,RANBP2c.935A>C (p.Lys312Thr)
c.1031A>C (p.Lys344Thr)
c.1082A>C (p.Lys361Thr)
c.986A>C (p.Lys329Thr)
c.362A>C (p.Lys121Thr)
c.1175A>C (p.Lys392Thr)
c.1079A>C (p.Lys360Thr)
c.8370+134842T>G (n.8370+134842T>G)
2g.108907889T>ACA348050792EDAR,RANBP2c.934A>T (p.Lys312Ter)
c.1030A>T (p.Lys344Ter)
c.1081A>T (p.Lys361Ter)
c.985A>T (p.Lys329Ter)
c.361A>T (p.Lys121Ter)
c.1174A>T (p.Lys392Ter)
c.1078A>T (p.Lys360Ter)
c.8370+134843T>A (n.8370+134843T>A)
 gnomAD v4
2g.108907889T>CCA348050794EDAR,RANBP2c.934A>G (p.Lys312Glu)
c.1030A>G (p.Lys344Glu)
c.1081A>G (p.Lys361Glu)
c.985A>G (p.Lys329Glu)
c.361A>G (p.Lys121Glu)
c.1174A>G (p.Lys392Glu)
c.1078A>G (p.Lys360Glu)
c.8370+134843T>C (n.8370+134843T>C)
 dbSNP gnomAD v4
2g.108907889T>GCA348050793EDAR,RANBP2c.934A>C (p.Lys312Gln)
c.1030A>C (p.Lys344Gln)
c.1081A>C (p.Lys361Gln)
c.985A>C (p.Lys329Gln)
c.361A>C (p.Lys121Gln)
c.1174A>C (p.Lys392Gln)
c.1078A>C (p.Lys360Gln)
c.8370+134843T>G (n.8370+134843T>G)
2g.108907889T=CA1278358941EDAR,RANBP2c.934A= (p.Lys312=)
c.1030A= (p.Lys344=)
c.1081A= (p.Lys361=)
c.985A= (p.Lys329=)
c.361A= (p.Lys121=)
c.1174A= (p.Lys392=)
c.1078A= (p.Lys360=)
c.8370+134843T= (n.8370+134843T=)
2g.108907890C>ACA348050796EDAR,RANBP2c.933G>T (p.Glu311Asp)
c.1029G>T (p.Glu343Asp)
c.1080G>T (p.Glu360Asp)
c.984G>T (p.Glu328Asp)
c.360G>T (p.Glu120Asp)
c.1173G>T (p.Glu391Asp)
c.1077G>T (p.Glu359Asp)
c.8370+134844C>A (n.8370+134844C>A)
2g.108907890C=CA1278358942EDAR,RANBP2c.933G= (p.Glu311=)
c.1029G= (p.Glu343=)
c.1080G= (p.Glu360=)
c.984G= (p.Glu328=)
c.360G= (p.Glu120=)
c.1173G= (p.Glu391=)
c.1077G= (p.Glu359=)
c.8370+134844C= (n.8370+134844C=)
2g.108907890C>GCA1824887EDAR,RANBP2c.933G>C (p.Glu311Asp)
c.1029G>C (p.Glu343Asp)
c.1080G>C (p.Glu360Asp)
c.984G>C (p.Glu328Asp)
c.360G>C (p.Glu120Asp)
c.1173G>C (p.Glu391Asp)
c.1077G>C (p.Glu359Asp)
c.8370+134844C>G (n.8370+134844C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907890C>TCA427911794EDAR,RANBP2c.933G>A (p.Glu311=)
c.1029G>A (p.Glu343=)
c.1080G>A (p.Glu360=)
c.984G>A (p.Glu328=)
c.360G>A (p.Glu120=)
c.1173G>A (p.Glu391=)
c.1077G>A (p.Glu359=)
c.8370+134844C>T (n.8370+134844C>T)
2g.108907891T>ACA348050799EDAR,RANBP2c.932A>T (p.Glu311Val)
c.1028A>T (p.Glu343Val)
c.1079A>T (p.Glu360Val)
c.983A>T (p.Glu328Val)
c.359A>T (p.Glu120Val)
c.1172A>T (p.Glu391Val)
c.1076A>T (p.Glu359Val)
c.8370+134845T>A (n.8370+134845T>A)
2g.108907891T>CCA348050802EDAR,RANBP2c.932A>G (p.Glu311Gly)
c.1028A>G (p.Glu343Gly)
c.1079A>G (p.Glu360Gly)
c.983A>G (p.Glu328Gly)
c.359A>G (p.Glu120Gly)
c.1172A>G (p.Glu391Gly)
c.1076A>G (p.Glu359Gly)
c.8370+134845T>C (n.8370+134845T>C)
2g.108907891T>GCA348050800EDAR,RANBP2c.932A>C (p.Glu311Ala)
c.1028A>C (p.Glu343Ala)
c.1079A>C (p.Glu360Ala)
c.983A>C (p.Glu328Ala)
c.359A>C (p.Glu120Ala)
c.1172A>C (p.Glu391Ala)
c.1076A>C (p.Glu359Ala)
c.8370+134845T>G (n.8370+134845T>G)
2g.108907892C>ACA348050804EDAR,RANBP2c.931G>T (p.Glu311Ter)
c.1027G>T (p.Glu343Ter)
c.1078G>T (p.Glu360Ter)
c.982G>T (p.Glu328Ter)
c.358G>T (p.Glu120Ter)
c.1171G>T (p.Glu391Ter)
c.1075G>T (p.Glu359Ter)
c.8370+134846C>A (n.8370+134846C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108907892C=CA1278358943EDAR,RANBP2c.931G= (p.Glu311=)
c.1027G= (p.Glu343=)
c.1078G= (p.Glu360=)
c.982G= (p.Glu328=)
c.358G= (p.Glu120=)
c.1171G= (p.Glu391=)
c.1075G= (p.Glu359=)
c.8370+134846C= (n.8370+134846C=)
2g.108907892C>GCA348050806EDAR,RANBP2c.931G>C (p.Glu311Gln)
c.1027G>C (p.Glu343Gln)
c.1078G>C (p.Glu360Gln)
c.982G>C (p.Glu328Gln)
c.358G>C (p.Glu120Gln)
c.1171G>C (p.Glu391Gln)
c.1075G>C (p.Glu359Gln)
c.8370+134846C>G (n.8370+134846C>G)
2g.108907892C>TCA348050805EDAR,RANBP2c.931G>A (p.Glu311Lys)
c.1027G>A (p.Glu343Lys)
c.1078G>A (p.Glu360Lys)
c.982G>A (p.Glu328Lys)
c.358G>A (p.Glu120Lys)
c.1171G>A (p.Glu391Lys)
c.1075G>A (p.Glu359Lys)
c.8370+134846C>T (n.8370+134846C>T)
2g.108907894delCA2740095683EDAR,RANBP2c.931del (p.Glu311ArgfsTer?)
c.1027del (p.Glu343ArgfsTer?)
c.1078del (p.Glu360ArgfsTer?)
c.982del (p.Glu328ArgfsTer?)
c.358del (p.Glu120ArgfsTer?)
c.1171del (p.Glu391ArgfsTer?)
c.1075del (p.Glu359ArgfsTer?)
c.8370+134848del (n.8370+134848del)
 ClinVar
2g.108907893C>ACA348050808EDAR,RANBP2c.930G>T (p.Arg310Ser)
c.1026G>T (p.Arg342Ser)
c.1077G>T (p.Arg359Ser)
c.981G>T (p.Arg327Ser)
c.357G>T (p.Arg119Ser)
c.1170G>T (p.Arg390Ser)
c.1074G>T (p.Arg358Ser)
c.8370+134847C>A (n.8370+134847C>A)
2g.108907893C>GCA348050810EDAR,RANBP2c.930G>C (p.Arg310Ser)
c.1026G>C (p.Arg342Ser)
c.1077G>C (p.Arg359Ser)
c.981G>C (p.Arg327Ser)
c.357G>C (p.Arg119Ser)
c.1170G>C (p.Arg390Ser)
c.1074G>C (p.Arg358Ser)
c.8370+134847C>G (n.8370+134847C>G)
2g.108907893C>TCA427911795EDAR,RANBP2c.930G>A (p.Arg310=)
c.1026G>A (p.Arg342=)
c.1077G>A (p.Arg359=)
c.981G>A (p.Arg327=)
c.357G>A (p.Arg119=)
c.1170G>A (p.Arg390=)
c.1074G>A (p.Arg358=)
c.8370+134847C>T (n.8370+134847C>T)
2g.108907894C>ACA348050811EDAR,RANBP2c.929G>T (p.Arg310Met)
c.1025G>T (p.Arg342Met)
c.1076G>T (p.Arg359Met)
c.980G>T (p.Arg327Met)
c.356G>T (p.Arg119Met)
c.1169G>T (p.Arg390Met)
c.1073G>T (p.Arg358Met)
c.8370+134848C>A (n.8370+134848C>A)
 dbSNP
2g.108907894C=CA1278358944EDAR,RANBP2c.929G= (p.Arg310=)
c.1025G= (p.Arg342=)
c.1076G= (p.Arg359=)
c.980G= (p.Arg327=)
c.356G= (p.Arg119=)
c.1169G= (p.Arg390=)
c.1073G= (p.Arg358=)
c.8370+134848C= (n.8370+134848C=)
2g.108907894C>GCA348050814EDAR,RANBP2c.929G>C (p.Arg310Thr)
c.1025G>C (p.Arg342Thr)
c.1076G>C (p.Arg359Thr)
c.980G>C (p.Arg327Thr)
c.356G>C (p.Arg119Thr)
c.1169G>C (p.Arg390Thr)
c.1073G>C (p.Arg358Thr)
c.8370+134848C>G (n.8370+134848C>G)
2g.108907894C>TCA348050812EDAR,RANBP2c.929G>A (p.Arg310Lys)
c.1025G>A (p.Arg342Lys)
c.1076G>A (p.Arg359Lys)
c.980G>A (p.Arg327Lys)
c.356G>A (p.Arg119Lys)
c.1169G>A (p.Arg390Lys)
c.1073G>A (p.Arg358Lys)
c.8370+134848C>T (n.8370+134848C>T)
2g.108907895T>ACA348050815EDAR,RANBP2c.928A>T (p.Arg310Trp)
c.1024A>T (p.Arg342Trp)
c.1075A>T (p.Arg359Trp)
c.979A>T (p.Arg327Trp)
c.355A>T (p.Arg119Trp)
c.1168A>T (p.Arg390Trp)
c.1072A>T (p.Arg358Trp)
c.8370+134849T>A (n.8370+134849T>A)
2g.108907895T>CCA348050817EDAR,RANBP2c.928A>G (p.Arg310Gly)
c.1024A>G (p.Arg342Gly)
c.1075A>G (p.Arg359Gly)
c.979A>G (p.Arg327Gly)
c.355A>G (p.Arg119Gly)
c.1168A>G (p.Arg390Gly)
c.1072A>G (p.Arg358Gly)
c.8370+134849T>C (n.8370+134849T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108907895T>GCA427911796EDAR,RANBP2c.928A>C (p.Arg310=)
c.1024A>C (p.Arg342=)
c.1075A>C (p.Arg359=)
c.979A>C (p.Arg327=)
c.355A>C (p.Arg119=)
c.1168A>C (p.Arg390=)
c.1072A>C (p.Arg358=)
c.8370+134849T>G (n.8370+134849T>G)
2g.108907895T=CA1278358945EDAR,RANBP2c.928A= (p.Arg310=)
c.1024A= (p.Arg342=)
c.1075A= (p.Arg359=)
c.979A= (p.Arg327=)
c.355A= (p.Arg119=)
c.1168A= (p.Arg390=)
c.1072A= (p.Arg358=)
c.8370+134849T= (n.8370+134849T=)
2g.108907896G>ACA427911797EDAR,RANBP2c.927C>T (p.Ala309=)
c.1023C>T (p.Ala341=)
c.1074C>T (p.Ala358=)
c.978C>T (p.Ala326=)
c.354C>T (p.Ala118=)
c.1167C>T (p.Ala389=)
c.1071C>T (p.Ala357=)
c.8370+134850G>A (n.8370+134850G>A)
2g.108907896G>CCA427911798EDAR,RANBP2c.927C>G (p.Ala309=)
c.1023C>G (p.Ala341=)
c.1074C>G (p.Ala358=)
c.978C>G (p.Ala326=)
c.354C>G (p.Ala118=)
c.1167C>G (p.Ala389=)
c.1071C>G (p.Ala357=)
c.8370+134850G>C (n.8370+134850G>C)
2g.108907896G>TCA427911799EDAR,RANBP2c.927C>A (p.Ala309=)
c.1023C>A (p.Ala341=)
c.1074C>A (p.Ala358=)
c.978C>A (p.Ala326=)
c.354C>A (p.Ala118=)
c.1167C>A (p.Ala389=)
c.1071C>A (p.Ala357=)
c.8370+134850G>T (n.8370+134850G>T)
 COSMIC COSMIC
2g.108907897G>ACA348050819EDAR,RANBP2c.926C>T (p.Ala309Val)
c.1022C>T (p.Ala341Val)
c.1073C>T (p.Ala358Val)
c.977C>T (p.Ala326Val)
c.353C>T (p.Ala118Val)
c.1166C>T (p.Ala389Val)
c.1070C>T (p.Ala357Val)
c.8370+134851G>A (n.8370+134851G>A)
2g.108907897G>CCA348050820EDAR,RANBP2c.926C>G (p.Ala309Gly)
c.1022C>G (p.Ala341Gly)
c.1073C>G (p.Ala358Gly)
c.977C>G (p.Ala326Gly)
c.353C>G (p.Ala118Gly)
c.1166C>G (p.Ala389Gly)
c.1070C>G (p.Ala357Gly)
c.8370+134851G>C (n.8370+134851G>C)
2g.108907897G>TCA348050821EDAR,RANBP2c.926C>A (p.Ala309Asp)
c.1022C>A (p.Ala341Asp)
c.1073C>A (p.Ala358Asp)
c.977C>A (p.Ala326Asp)
c.353C>A (p.Ala118Asp)
c.1166C>A (p.Ala389Asp)
c.1070C>A (p.Ala357Asp)
c.8370+134851G>T (n.8370+134851G>T)
2g.108907897_108907899delCA2577065588EDAR,RANBP2c.924_926del (p.Ala309del)
c.1020_1022del (p.Ala341del)
c.1071_1073del (p.Ala358del)
c.975_977del (p.Ala326del)
c.351_353del (p.Ala118del)
c.1164_1166del (p.Ala389del)
c.1068_1070del (p.Ala357del)
c.8370+134851_8370+134853del (n.8370+134851_8370+134853del)
2g.108907898C>ACA348050822EDAR,RANBP2c.925G>T (p.Ala309Ser)
c.1021G>T (p.Ala341Ser)
c.1072G>T (p.Ala358Ser)
c.976G>T (p.Ala326Ser)
c.352G>T (p.Ala118Ser)
c.1165G>T (p.Ala389Ser)
c.1069G>T (p.Ala357Ser)
c.8370+134852C>A (n.8370+134852C>A)
2g.108907898C=CA1278358946EDAR,RANBP2c.925G= (p.Ala309=)
c.1021G= (p.Ala341=)
c.1072G= (p.Ala358=)
c.976G= (p.Ala326=)
c.352G= (p.Ala118=)
c.1165G= (p.Ala389=)
c.1069G= (p.Ala357=)
c.8370+134852C= (n.8370+134852C=)
2g.108907898C>GCA348050824EDAR,RANBP2c.925G>C (p.Ala309Pro)
c.1021G>C (p.Ala341Pro)
c.1072G>C (p.Ala358Pro)
c.976G>C (p.Ala326Pro)
c.352G>C (p.Ala118Pro)
c.1165G>C (p.Ala389Pro)
c.1069G>C (p.Ala357Pro)
c.8370+134852C>G (n.8370+134852C>G)
2g.108907898C>TCA348050825EDAR,RANBP2c.925G>A (p.Ala309Thr)
c.1021G>A (p.Ala341Thr)
c.1072G>A (p.Ala358Thr)
c.976G>A (p.Ala326Thr)
c.352G>A (p.Ala118Thr)
c.1165G>A (p.Ala389Thr)
c.1069G>A (p.Ala357Thr)
c.8370+134852C>T (n.8370+134852C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108907899C>ACA427911802EDAR,RANBP2c.924G>T (p.Leu308=)
c.1020G>T (p.Leu340=)
c.1071G>T (p.Leu357=)
c.975G>T (p.Leu325=)
c.351G>T (p.Leu117=)
c.1164G>T (p.Leu388=)
c.1068G>T (p.Leu356=)
c.8370+134853C>A (n.8370+134853C>A)
2g.108907899C=CA1278358947EDAR,RANBP2c.924G= (p.Leu308=)
c.1020G= (p.Leu340=)
c.1071G= (p.Leu357=)
c.975G= (p.Leu325=)
c.351G= (p.Leu117=)
c.1164G= (p.Leu388=)
c.1068G= (p.Leu356=)
c.8370+134853C= (n.8370+134853C=)
2g.108907899C>GCA427911801EDAR,RANBP2c.924G>C (p.Leu308=)
c.1020G>C (p.Leu340=)
c.1071G>C (p.Leu357=)
c.975G>C (p.Leu325=)
c.351G>C (p.Leu117=)
c.1164G>C (p.Leu388=)
c.1068G>C (p.Leu356=)
c.8370+134853C>G (n.8370+134853C>G)
2g.108907899C>TCA427911800EDAR,RANBP2c.924G>A (p.Leu308=)
c.1020G>A (p.Leu340=)
c.1071G>A (p.Leu357=)
c.975G>A (p.Leu325=)
c.351G>A (p.Leu117=)
c.1164G>A (p.Leu388=)
c.1068G>A (p.Leu356=)
c.8370+134853C>T (n.8370+134853C>T)
 dbSNP
2g.108907900A>CCA348050826EDAR,RANBP2c.923T>G (p.Leu308Arg)
c.1019T>G (p.Leu340Arg)
c.1070T>G (p.Leu357Arg)
c.974T>G (p.Leu325Arg)
c.350T>G (p.Leu117Arg)
c.1163T>G (p.Leu388Arg)
c.1067T>G (p.Leu356Arg)
c.8370+134854A>C (n.8370+134854A>C)
 gnomAD v4
2g.108907900A>GCA348050827EDAR,RANBP2c.923T>C (p.Leu308Pro)
c.1019T>C (p.Leu340Pro)
c.1070T>C (p.Leu357Pro)
c.974T>C (p.Leu325Pro)
c.350T>C (p.Leu117Pro)
c.1163T>C (p.Leu388Pro)
c.1067T>C (p.Leu356Pro)
c.8370+134854A>G (n.8370+134854A>G)
2g.108907900A>TCA348050829EDAR,RANBP2c.923T>A (p.Leu308Gln)
c.1019T>A (p.Leu340Gln)
c.1070T>A (p.Leu357Gln)
c.974T>A (p.Leu325Gln)
c.350T>A (p.Leu117Gln)
c.1163T>A (p.Leu388Gln)
c.1067T>A (p.Leu356Gln)
c.8370+134854A>T (n.8370+134854A>T)
2g.108907901G>ACA427911803EDAR,RANBP2c.922C>T (p.Leu308=)
c.1018C>T (p.Leu340=)
c.1069C>T (p.Leu357=)
c.973C>T (p.Leu325=)
c.349C>T (p.Leu117=)
c.1162C>T (p.Leu388=)
c.1066C>T (p.Leu356=)
c.8370+134855G>A (n.8370+134855G>A)
 ClinVar
2g.108907901G>CCA348050832EDAR,RANBP2c.922C>G (p.Leu308Val)
c.1018C>G (p.Leu340Val)
c.1069C>G (p.Leu357Val)
c.973C>G (p.Leu325Val)
c.349C>G (p.Leu117Val)
c.1162C>G (p.Leu388Val)
c.1066C>G (p.Leu356Val)
c.8370+134855G>C (n.8370+134855G>C)
2g.108907901G>TCA348050830EDAR,RANBP2c.922C>A (p.Leu308Met)
c.1018C>A (p.Leu340Met)
c.1069C>A (p.Leu357Met)
c.973C>A (p.Leu325Met)
c.349C>A (p.Leu117Met)
c.1162C>A (p.Leu388Met)
c.1066C>A (p.Leu356Met)
c.8370+134855G>T (n.8370+134855G>T)
2g.108907902G>ACA427911804EDAR,RANBP2c.921C>T (p.His307=)
c.1017C>T (p.His339=)
c.1068C>T (p.His356=)
c.972C>T (p.His324=)
c.348C>T (p.His116=)
c.1161C>T (p.His387=)
c.1065C>T (p.His355=)
c.8370+134856G>A (n.8370+134856G>A)
2g.108907902G>CCA348050833EDAR,RANBP2c.921C>G (p.His307Gln)
c.1017C>G (p.His339Gln)
c.1068C>G (p.His356Gln)
c.972C>G (p.His324Gln)
c.348C>G (p.His116Gln)
c.1161C>G (p.His387Gln)
c.1065C>G (p.His355Gln)
c.8370+134856G>C (n.8370+134856G>C)
2g.108907902G>TCA348050834EDAR,RANBP2c.921C>A (p.His307Gln)
c.1017C>A (p.His339Gln)
c.1068C>A (p.His356Gln)
c.972C>A (p.His324Gln)
c.348C>A (p.His116Gln)
c.1161C>A (p.His387Gln)
c.1065C>A (p.His355Gln)
c.8370+134856G>T (n.8370+134856G>T)
 gnomAD v4
2g.108907903T>ACA348050835EDAR,RANBP2c.920A>T (p.His307Leu)
c.1016A>T (p.His339Leu)
c.1067A>T (p.His356Leu)
c.971A>T (p.His324Leu)
c.347A>T (p.His116Leu)
c.1160A>T (p.His387Leu)
c.1064A>T (p.His355Leu)
c.8370+134857T>A (n.8370+134857T>A)
2g.108907903T>CCA348050837EDAR,RANBP2c.920A>G (p.His307Arg)
c.1016A>G (p.His339Arg)
c.1067A>G (p.His356Arg)
c.971A>G (p.His324Arg)
c.347A>G (p.His116Arg)
c.1160A>G (p.His387Arg)
c.1064A>G (p.His355Arg)
c.8370+134857T>C (n.8370+134857T>C)
2g.108907903T>GCA348050839EDAR,RANBP2c.920A>C (p.His307Pro)
c.1016A>C (p.His339Pro)
c.1067A>C (p.His356Pro)
c.971A>C (p.His324Pro)
c.347A>C (p.His116Pro)
c.1160A>C (p.His387Pro)
c.1064A>C (p.His355Pro)
c.8370+134857T>G (n.8370+134857T>G)
 dbSNP
2g.108907903T=CA1278358948EDAR,RANBP2c.920A= (p.His307=)
c.1016A= (p.His339=)
c.1067A= (p.His356=)
c.971A= (p.His324=)
c.347A= (p.His116=)
c.1160A= (p.His387=)
c.1064A= (p.His355=)
c.8370+134857T= (n.8370+134857T=)
2g.108907904G>ACA53473273EDAR,RANBP2c.919C>T (p.His307Tyr)
c.1015C>T (p.His339Tyr)
c.1066C>T (p.His356Tyr)
c.970C>T (p.His324Tyr)
c.346C>T (p.His116Tyr)
c.1159C>T (p.His387Tyr)
c.1063C>T (p.His355Tyr)
c.8370+134858G>A (n.8370+134858G>A)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.108907904G>CCA348050841EDAR,RANBP2c.919C>G (p.His307Asp)
c.1015C>G (p.His339Asp)
c.1066C>G (p.His356Asp)
c.970C>G (p.His324Asp)
c.346C>G (p.His116Asp)
c.1159C>G (p.His387Asp)
c.1063C>G (p.His355Asp)
c.8370+134858G>C (n.8370+134858G>C)
2g.108907904G=CA1278358949EDAR,RANBP2c.919C= (p.His307=)
c.1015C= (p.His339=)
c.1066C= (p.His356=)
c.970C= (p.His324=)
c.346C= (p.His116=)
c.1159C= (p.His387=)
c.1063C= (p.His355=)
c.8370+134858G= (n.8370+134858G=)
2g.108907904G>TCA1824888EDAR,RANBP2c.919C>A (p.His307Asn)
c.1015C>A (p.His339Asn)
c.1066C>A (p.His356Asn)
c.970C>A (p.His324Asn)
c.346C>A (p.His116Asn)
c.1159C>A (p.His387Asn)
c.1063C>A (p.His355Asn)
c.8370+134858G>T (n.8370+134858G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907905A>CCA427911806EDAR,RANBP2c.918T>G (p.Val306=)
c.1014T>G (p.Val338=)
c.1065T>G (p.Val355=)
c.969T>G (p.Val323=)
c.345T>G (p.Val115=)
c.1158T>G (p.Val386=)
c.1062T>G (p.Val354=)
c.8370+134859A>C (n.8370+134859A>C)
2g.108907905A>GCA427911808EDAR,RANBP2c.918T>C (p.Val306=)
c.1014T>C (p.Val338=)
c.1065T>C (p.Val355=)
c.969T>C (p.Val323=)
c.345T>C (p.Val115=)
c.1158T>C (p.Val386=)
c.1062T>C (p.Val354=)
c.8370+134859A>G (n.8370+134859A>G)
2g.108907905A>TCA427911807EDAR,RANBP2c.918T>A (p.Val306=)
c.1014T>A (p.Val338=)
c.1065T>A (p.Val355=)
c.969T>A (p.Val323=)
c.345T>A (p.Val115=)
c.1158T>A (p.Val386=)
c.1062T>A (p.Val354=)
c.8370+134859A>T (n.8370+134859A>T)
2g.108907906A>CCA348050844EDAR,RANBP2c.917T>G (p.Val306Gly)
c.1013T>G (p.Val338Gly)
c.1064T>G (p.Val355Gly)
c.968T>G (p.Val323Gly)
c.344T>G (p.Val115Gly)
c.1157T>G (p.Val386Gly)
c.1061T>G (p.Val354Gly)
c.8370+134860A>C (n.8370+134860A>C)
2g.108907906A>GCA348050846EDAR,RANBP2c.917T>C (p.Val306Ala)
c.1013T>C (p.Val338Ala)
c.1064T>C (p.Val355Ala)
c.968T>C (p.Val323Ala)
c.344T>C (p.Val115Ala)
c.1157T>C (p.Val386Ala)
c.1061T>C (p.Val354Ala)
c.8370+134860A>G (n.8370+134860A>G)
2g.108907906A>TCA348050847EDAR,RANBP2c.917T>A (p.Val306Asp)
c.1013T>A (p.Val338Asp)
c.1064T>A (p.Val355Asp)
c.968T>A (p.Val323Asp)
c.344T>A (p.Val115Asp)
c.1157T>A (p.Val386Asp)
c.1061T>A (p.Val354Asp)
c.8370+134860A>T (n.8370+134860A>T)
2g.108907907C>ACA348050936EDAR,RANBP2c.916G>T (p.Val306Phe)
c.1012G>T (p.Val338Phe)
c.1063G>T (p.Val355Phe)
c.967G>T (p.Val323Phe)
c.343G>T (p.Val115Phe)
c.1156G>T (p.Val386Phe)
c.1060G>T (p.Val354Phe)
c.8370+134861C>A (n.8370+134861C>A)
2g.108907907C>GCA348050935EDAR,RANBP2c.916G>C (p.Val306Leu)
c.1012G>C (p.Val338Leu)
c.1063G>C (p.Val355Leu)
c.967G>C (p.Val323Leu)
c.343G>C (p.Val115Leu)
c.1156G>C (p.Val386Leu)
c.1060G>C (p.Val354Leu)
c.8370+134861C>G (n.8370+134861C>G)
2g.108907907C>TCA348050934EDAR,RANBP2c.916G>A (p.Val306Ile)
c.1012G>A (p.Val338Ile)
c.1063G>A (p.Val355Ile)
c.967G>A (p.Val323Ile)
c.343G>A (p.Val115Ile)
c.1156G>A (p.Val386Ile)
c.1060G>A (p.Val354Ile)
c.8370+134861C>T (n.8370+134861C>T)
 gnomAD v4
2g.108907908C>ACA427911910EDAR,RANBP2c.915G>T (p.Leu305=)
c.1011G>T (p.Leu337=)
c.1062G>T (p.Leu354=)
c.966G>T (p.Leu322=)
c.342G>T (p.Leu114=)
c.1155G>T (p.Leu385=)
c.1059G>T (p.Leu353=)
c.8370+134862C>A (n.8370+134862C>A)
2g.108907908C>GCA427911911EDAR,RANBP2c.915G>C (p.Leu305=)
c.1011G>C (p.Leu337=)
c.1062G>C (p.Leu354=)
c.966G>C (p.Leu322=)
c.342G>C (p.Leu114=)
c.1155G>C (p.Leu385=)
c.1059G>C (p.Leu353=)
c.8370+134862C>G (n.8370+134862C>G)
2g.108907908C>TCA427911912EDAR,RANBP2c.915G>A (p.Leu305=)
c.1011G>A (p.Leu337=)
c.1062G>A (p.Leu354=)
c.966G>A (p.Leu322=)
c.342G>A (p.Leu114=)
c.1155G>A (p.Leu385=)
c.1059G>A (p.Leu353=)
c.8370+134862C>T (n.8370+134862C>T)
2g.108907909A>CCA348050937EDAR,RANBP2c.914T>G (p.Leu305Arg)
c.1010T>G (p.Leu337Arg)
c.1061T>G (p.Leu354Arg)
c.965T>G (p.Leu322Arg)
c.341T>G (p.Leu114Arg)
c.1154T>G (p.Leu385Arg)
c.1058T>G (p.Leu353Arg)
c.8370+134863A>C (n.8370+134863A>C)
2g.108907909A>GCA348050938EDAR,RANBP2c.914T>C (p.Leu305Pro)
c.1010T>C (p.Leu337Pro)
c.1061T>C (p.Leu354Pro)
c.965T>C (p.Leu322Pro)
c.341T>C (p.Leu114Pro)
c.1154T>C (p.Leu385Pro)
c.1058T>C (p.Leu353Pro)
c.8370+134863A>G (n.8370+134863A>G)
2g.108907909A>TCA348050939EDAR,RANBP2c.914T>A (p.Leu305Gln)
c.1010T>A (p.Leu337Gln)
c.1061T>A (p.Leu354Gln)
c.965T>A (p.Leu322Gln)
c.341T>A (p.Leu114Gln)
c.1154T>A (p.Leu385Gln)
c.1058T>A (p.Leu353Gln)
c.8370+134863A>T (n.8370+134863A>T)
2g.108907910G>ACA427911913EDAR,RANBP2c.913C>T (p.Leu305=)
c.1009C>T (p.Leu337=)
c.1060C>T (p.Leu354=)
c.964C>T (p.Leu322=)
c.340C>T (p.Leu114=)
c.1153C>T (p.Leu385=)
c.1057C>T (p.Leu353=)
c.8370+134864G>A (n.8370+134864G>A)
 ClinVar gnomAD v4
2g.108907910G>CCA348050940EDAR,RANBP2c.913C>G (p.Leu305Val)
c.1009C>G (p.Leu337Val)
c.1060C>G (p.Leu354Val)
c.964C>G (p.Leu322Val)
c.340C>G (p.Leu114Val)
c.1153C>G (p.Leu385Val)
c.1057C>G (p.Leu353Val)
c.8370+134864G>C (n.8370+134864G>C)
 gnomAD v4
2g.108907910G>TCA348050941EDAR,RANBP2c.913C>A (p.Leu305Met)
c.1009C>A (p.Leu337Met)
c.1060C>A (p.Leu354Met)
c.964C>A (p.Leu322Met)
c.340C>A (p.Leu114Met)
c.1153C>A (p.Leu385Met)
c.1057C>A (p.Leu353Met)
c.8370+134864G>T (n.8370+134864G>T)
 gnomAD v4
2g.108907911C>ACA427911914EDAR,RANBP2c.912G>T (p.Ser304=)
c.1008G>T (p.Ser336=)
c.1059G>T (p.Ser353=)
c.963G>T (p.Ser321=)
c.339G>T (p.Ser113=)
c.1152G>T (p.Ser384=)
c.1056G>T (p.Ser352=)
c.8370+134865C>A (n.8370+134865C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108907911C=CA1278358950EDAR,RANBP2c.912G= (p.Ser304=)
c.1008G= (p.Ser336=)
c.1059G= (p.Ser353=)
c.963G= (p.Ser321=)
c.339G= (p.Ser113=)
c.1152G= (p.Ser384=)
c.1056G= (p.Ser352=)
c.8370+134865C= (n.8370+134865C=)
2g.108907911C>GCA427911916EDAR,RANBP2c.912G>C (p.Ser304=)
c.1008G>C (p.Ser336=)
c.1059G>C (p.Ser353=)
c.963G>C (p.Ser321=)
c.339G>C (p.Ser113=)
c.1152G>C (p.Ser384=)
c.1056G>C (p.Ser352=)
c.8370+134865C>G (n.8370+134865C>G)
2g.108907911C>TCA427911915EDAR,RANBP2c.912G>A (p.Ser304=)
c.1008G>A (p.Ser336=)
c.1059G>A (p.Ser353=)
c.963G>A (p.Ser321=)
c.339G>A (p.Ser113=)
c.1152G>A (p.Ser384=)
c.1056G>A (p.Ser352=)
c.8370+134865C>T (n.8370+134865C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108907912G>ACA348050942EDAR,RANBP2c.911C>T (p.Ser304Leu)
c.1007C>T (p.Ser336Leu)
c.1058C>T (p.Ser353Leu)
c.962C>T (p.Ser321Leu)
c.338C>T (p.Ser113Leu)
c.1151C>T (p.Ser384Leu)
c.1055C>T (p.Ser352Leu)
c.8370+134866G>A (n.8370+134866G>A)
 ClinVar dbSNP gnomAD v4
2g.108907912G>CCA348050943EDAR,RANBP2c.911C>G (p.Ser304Trp)
c.1007C>G (p.Ser336Trp)
c.1058C>G (p.Ser353Trp)
c.962C>G (p.Ser321Trp)
c.338C>G (p.Ser113Trp)
c.1151C>G (p.Ser384Trp)
c.1055C>G (p.Ser352Trp)
c.8370+134866G>C (n.8370+134866G>C)
 dbSNP gnomAD v2
2g.108907912G=CA1278358951EDAR,RANBP2c.911C= (p.Ser304=)
c.1007C= (p.Ser336=)
c.1058C= (p.Ser353=)
c.962C= (p.Ser321=)
c.338C= (p.Ser113=)
c.1151C= (p.Ser384=)
c.1055C= (p.Ser352=)
c.8370+134866G= (n.8370+134866G=)
2g.108907912G>TCA348050944EDAR,RANBP2c.911C>A (p.Ser304Ter)
c.1007C>A (p.Ser336Ter)
c.1058C>A (p.Ser353Ter)
c.962C>A (p.Ser321Ter)
c.338C>A (p.Ser113Ter)
c.1151C>A (p.Ser384Ter)
c.1055C>A (p.Ser352Ter)
c.8370+134866G>T (n.8370+134866G>T)
 gnomAD v4
2g.108907913A>CCA348050945EDAR,RANBP2c.910T>G (p.Ser304Ala)
c.1006T>G (p.Ser336Ala)
c.1057T>G (p.Ser353Ala)
c.961T>G (p.Ser321Ala)
c.337T>G (p.Ser113Ala)
c.1150T>G (p.Ser384Ala)
c.1054T>G (p.Ser352Ala)
c.8370+134867A>C (n.8370+134867A>C)
2g.108907913A>GCA348050946EDAR,RANBP2c.910T>C (p.Ser304Pro)
c.1006T>C (p.Ser336Pro)
c.1057T>C (p.Ser353Pro)
c.961T>C (p.Ser321Pro)
c.337T>C (p.Ser113Pro)
c.1150T>C (p.Ser384Pro)
c.1054T>C (p.Ser352Pro)
c.8370+134867A>G (n.8370+134867A>G)
2g.108907913A>TCA348050947EDAR,RANBP2c.910T>A (p.Ser304Thr)
c.1006T>A (p.Ser336Thr)
c.1057T>A (p.Ser353Thr)
c.961T>A (p.Ser321Thr)
c.337T>A (p.Ser113Thr)
c.1150T>A (p.Ser384Thr)
c.1054T>A (p.Ser352Thr)
c.8370+134867A>T (n.8370+134867A>T)
2g.108907914C>ACA427911917EDAR,RANBP2c.909G>T (p.Leu303=)
c.1005G>T (p.Leu335=)
c.1056G>T (p.Leu352=)
c.960G>T (p.Leu320=)
c.336G>T (p.Leu112=)
c.1149G>T (p.Leu383=)
c.1053G>T (p.Leu351=)
c.8370+134868C>A (n.8370+134868C>A)
2g.108907914C>GCA427911918EDAR,RANBP2c.909G>C (p.Leu303=)
c.1005G>C (p.Leu335=)
c.1056G>C (p.Leu352=)
c.960G>C (p.Leu320=)
c.336G>C (p.Leu112=)
c.1149G>C (p.Leu383=)
c.1053G>C (p.Leu351=)
c.8370+134868C>G (n.8370+134868C>G)
2g.108907914C>TCA427911919EDAR,RANBP2c.909G>A (p.Leu303=)
c.1005G>A (p.Leu335=)
c.1056G>A (p.Leu352=)
c.960G>A (p.Leu320=)
c.336G>A (p.Leu112=)
c.1149G>A (p.Leu383=)
c.1053G>A (p.Leu351=)
c.8370+134868C>T (n.8370+134868C>T)
2g.108907915A=CA1278358952EDAR,RANBP2c.908T= (p.Leu303=)
c.1004T= (p.Leu335=)
c.1055T= (p.Leu352=)
c.959T= (p.Leu320=)
c.335T= (p.Leu112=)
c.1148T= (p.Leu383=)
c.1052T= (p.Leu351=)
c.8370+134869A= (n.8370+134869A=)
2g.108907915A>CCA348050950EDAR,RANBP2c.908T>G (p.Leu303Arg)
c.1004T>G (p.Leu335Arg)
c.1055T>G (p.Leu352Arg)
c.959T>G (p.Leu320Arg)
c.335T>G (p.Leu112Arg)
c.1148T>G (p.Leu383Arg)
c.1052T>G (p.Leu351Arg)
c.8370+134869A>C (n.8370+134869A>C)
2g.108907915A>GCA348050949EDAR,RANBP2c.908T>C (p.Leu303Pro)
c.1004T>C (p.Leu335Pro)
c.1055T>C (p.Leu352Pro)
c.959T>C (p.Leu320Pro)
c.335T>C (p.Leu112Pro)
c.1148T>C (p.Leu383Pro)
c.1052T>C (p.Leu351Pro)
c.8370+134869A>G (n.8370+134869A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108907915A>TCA348050948EDAR,RANBP2c.908T>A (p.Leu303Gln)
c.1004T>A (p.Leu335Gln)
c.1055T>A (p.Leu352Gln)
c.959T>A (p.Leu320Gln)
c.335T>A (p.Leu112Gln)
c.1148T>A (p.Leu383Gln)
c.1052T>A (p.Leu351Gln)
c.8370+134869A>T (n.8370+134869A>T)
2g.108907916G>ACA427911920EDAR,RANBP2c.907C>T (p.Leu303=)
c.1003C>T (p.Leu335=)
c.1054C>T (p.Leu352=)
c.958C>T (p.Leu320=)
c.334C>T (p.Leu112=)
c.1147C>T (p.Leu383=)
c.1051C>T (p.Leu351=)
c.8370+134870G>A (n.8370+134870G>A)
2g.108907916G>CCA348050951EDAR,RANBP2c.907C>G (p.Leu303Val)
c.1003C>G (p.Leu335Val)
c.1054C>G (p.Leu352Val)
c.958C>G (p.Leu320Val)
c.334C>G (p.Leu112Val)
c.1147C>G (p.Leu383Val)
c.1051C>G (p.Leu351Val)
c.8370+134870G>C (n.8370+134870G>C)
2g.108907916G>TCA348050952EDAR,RANBP2c.907C>A (p.Leu303Met)
c.1003C>A (p.Leu335Met)
c.1054C>A (p.Leu352Met)
c.958C>A (p.Leu320Met)
c.334C>A (p.Leu112Met)
c.1147C>A (p.Leu383Met)
c.1051C>A (p.Leu351Met)
c.8370+134870G>T (n.8370+134870G>T)
2g.108907917C>ACA427911921EDAR,RANBP2c.906G>T (p.Leu302=)
c.1002G>T (p.Leu334=)
c.1053G>T (p.Leu351=)
c.957G>T (p.Leu319=)
c.333G>T (p.Leu111=)
c.1146G>T (p.Leu382=)
c.1050G>T (p.Leu350=)
c.8370+134871C>A (n.8370+134871C>A)
2g.108907917C>GCA427911922EDAR,RANBP2c.906G>C (p.Leu302=)
c.1002G>C (p.Leu334=)
c.1053G>C (p.Leu351=)
c.957G>C (p.Leu319=)
c.333G>C (p.Leu111=)
c.1146G>C (p.Leu382=)
c.1050G>C (p.Leu350=)
c.8370+134871C>G (n.8370+134871C>G)
2g.108907917C>TCA427911923EDAR,RANBP2c.906G>A (p.Leu302=)
c.1002G>A (p.Leu334=)
c.1053G>A (p.Leu351=)
c.957G>A (p.Leu319=)
c.333G>A (p.Leu111=)
c.1146G>A (p.Leu382=)
c.1050G>A (p.Leu350=)
c.8370+134871C>T (n.8370+134871C>T)
2g.108907918A>CCA348050953EDAR,RANBP2c.905T>G (p.Leu302Arg)
c.1001T>G (p.Leu334Arg)
c.1052T>G (p.Leu351Arg)
c.956T>G (p.Leu319Arg)
c.332T>G (p.Leu111Arg)
c.1145T>G (p.Leu382Arg)
c.1049T>G (p.Leu350Arg)
c.8370+134872A>C (n.8370+134872A>C)
2g.108907918A>GCA348050954EDAR,RANBP2c.905T>C (p.Leu302Pro)
c.1001T>C (p.Leu334Pro)
c.1052T>C (p.Leu351Pro)
c.956T>C (p.Leu319Pro)
c.332T>C (p.Leu111Pro)
c.1145T>C (p.Leu382Pro)
c.1049T>C (p.Leu350Pro)
c.8370+134872A>G (n.8370+134872A>G)
2g.108907918A>TCA348050955EDAR,RANBP2c.905T>A (p.Leu302Gln)
c.1001T>A (p.Leu334Gln)
c.1052T>A (p.Leu351Gln)
c.956T>A (p.Leu319Gln)
c.332T>A (p.Leu111Gln)
c.1145T>A (p.Leu382Gln)
c.1049T>A (p.Leu350Gln)
c.8370+134872A>T (n.8370+134872A>T)
2g.108907919G>ACA427911924EDAR,RANBP2c.904C>T (p.Leu302=)
c.1000C>T (p.Leu334=)
c.1051C>T (p.Leu351=)
c.955C>T (p.Leu319=)
c.331C>T (p.Leu111=)
c.1144C>T (p.Leu382=)
c.1048C>T (p.Leu350=)
c.8370+134873G>A (n.8370+134873G>A)
2g.108907919G>CCA348050956EDAR,RANBP2c.904C>G (p.Leu302Val)
c.1000C>G (p.Leu334Val)
c.1051C>G (p.Leu351Val)
c.955C>G (p.Leu319Val)
c.331C>G (p.Leu111Val)
c.1144C>G (p.Leu382Val)
c.1048C>G (p.Leu350Val)
c.8370+134873G>C (n.8370+134873G>C)
2g.108907919G>TCA348050957EDAR,RANBP2c.904C>A (p.Leu302Met)
c.1000C>A (p.Leu334Met)
c.1051C>A (p.Leu351Met)
c.955C>A (p.Leu319Met)
c.331C>A (p.Leu111Met)
c.1144C>A (p.Leu382Met)
c.1048C>A (p.Leu350Met)
c.8370+134873G>T (n.8370+134873G>T)
2g.108907920G>ACA427911925EDAR,RANBP2c.903C>T (p.Cys301=)
c.999C>T (p.Cys333=)
c.1050C>T (p.Cys350=)
c.954C>T (p.Cys318=)
c.330C>T (p.Cys110=)
c.1143C>T (p.Cys381=)
c.1047C>T (p.Cys349=)
c.8370+134874G>A (n.8370+134874G>A)
 dbSNP gnomAD v4
2g.108907920G>CCA348050958EDAR,RANBP2c.903C>G (p.Cys301Trp)
c.999C>G (p.Cys333Trp)
c.1050C>G (p.Cys350Trp)
c.954C>G (p.Cys318Trp)
c.330C>G (p.Cys110Trp)
c.1143C>G (p.Cys381Trp)
c.1047C>G (p.Cys349Trp)
c.8370+134874G>C (n.8370+134874G>C)
2g.108907920G=CA1278358953EDAR,RANBP2c.903C= (p.Cys301=)
c.999C= (p.Cys333=)
c.1050C= (p.Cys350=)
c.954C= (p.Cys318=)
c.330C= (p.Cys110=)
c.1143C= (p.Cys381=)
c.1047C= (p.Cys349=)
c.8370+134874G= (n.8370+134874G=)
2g.108907920G>TCA1824889EDAR,RANBP2c.903C>A (p.Cys301Ter)
c.999C>A (p.Cys333Ter)
c.1050C>A (p.Cys350Ter)
c.954C>A (p.Cys318Ter)
c.330C>A (p.Cys110Ter)
c.1143C>A (p.Cys381Ter)
c.1047C>A (p.Cys349Ter)
c.8370+134874G>T (n.8370+134874G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907921C>ACA348050959EDAR,RANBP2c.902G>T (p.Cys301Phe)
c.998G>T (p.Cys333Phe)
c.1049G>T (p.Cys350Phe)
c.953G>T (p.Cys318Phe)
c.329G>T (p.Cys110Phe)
c.1142G>T (p.Cys381Phe)
c.1046G>T (p.Cys349Phe)
c.8370+134875C>A (n.8370+134875C>A)
2g.108907921C>GCA348050960EDAR,RANBP2c.902G>C (p.Cys301Ser)
c.998G>C (p.Cys333Ser)
c.1049G>C (p.Cys350Ser)
c.953G>C (p.Cys318Ser)
c.329G>C (p.Cys110Ser)
c.1142G>C (p.Cys381Ser)
c.1046G>C (p.Cys349Ser)
c.8370+134875C>G (n.8370+134875C>G)
2g.108907921C>TCA348050961EDAR,RANBP2c.902G>A (p.Cys301Tyr)
c.998G>A (p.Cys333Tyr)
c.1049G>A (p.Cys350Tyr)
c.953G>A (p.Cys318Tyr)
c.329G>A (p.Cys110Tyr)
c.1142G>A (p.Cys381Tyr)
c.1046G>A (p.Cys349Tyr)
c.8370+134875C>T (n.8370+134875C>T)
 COSMIC COSMIC
2g.108907922A>CCA348050964EDAR,RANBP2c.901T>G (p.Cys301Gly)
c.997T>G (p.Cys333Gly)
c.1048T>G (p.Cys350Gly)
c.952T>G (p.Cys318Gly)
c.328T>G (p.Cys110Gly)
c.1141T>G (p.Cys381Gly)
c.1045T>G (p.Cys349Gly)
c.8370+134876A>C (n.8370+134876A>C)
2g.108907922A>GCA348050963EDAR,RANBP2c.901T>C (p.Cys301Arg)
c.997T>C (p.Cys333Arg)
c.1048T>C (p.Cys350Arg)
c.952T>C (p.Cys318Arg)
c.328T>C (p.Cys110Arg)
c.1141T>C (p.Cys381Arg)
c.1045T>C (p.Cys349Arg)
c.8370+134876A>G (n.8370+134876A>G)
2g.108907922A>TCA348050962EDAR,RANBP2c.901T>A (p.Cys301Ser)
c.997T>A (p.Cys333Ser)
c.1048T>A (p.Cys350Ser)
c.952T>A (p.Cys318Ser)
c.328T>A (p.Cys110Ser)
c.1141T>A (p.Cys381Ser)
c.1045T>A (p.Cys349Ser)
c.8370+134876A>T (n.8370+134876A>T)
2g.108907923C>ACA427911926EDAR,RANBP2c.900G>T (p.Leu300=)
c.996G>T (p.Leu332=)
c.1047G>T (p.Leu349=)
c.951G>T (p.Leu317=)
c.327G>T (p.Leu109=)
c.1140G>T (p.Leu380=)
c.1044G>T (p.Leu348=)
c.8370+134877C>A (n.8370+134877C>A)
2g.108907923C=CA1278358954EDAR,RANBP2c.900G= (p.Leu300=)
c.996G= (p.Leu332=)
c.1047G= (p.Leu349=)
c.951G= (p.Leu317=)
c.327G= (p.Leu109=)
c.1140G= (p.Leu380=)
c.1044G= (p.Leu348=)
c.8370+134877C= (n.8370+134877C=)
2g.108907923C>GCA427911927EDAR,RANBP2c.900G>C (p.Leu300=)
c.996G>C (p.Leu332=)
c.1047G>C (p.Leu349=)
c.951G>C (p.Leu317=)
c.327G>C (p.Leu109=)
c.1140G>C (p.Leu380=)
c.1044G>C (p.Leu348=)
c.8370+134877C>G (n.8370+134877C>G)
2g.108907923C>TCA53473282EDAR,RANBP2c.900G>A (p.Leu300=)
c.996G>A (p.Leu332=)
c.1047G>A (p.Leu349=)
c.951G>A (p.Leu317=)
c.327G>A (p.Leu109=)
c.1140G>A (p.Leu380=)
c.1044G>A (p.Leu348=)
c.8370+134877C>T (n.8370+134877C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108907924A>CCA348050967EDAR,RANBP2c.899T>G (p.Leu300Arg)
c.995T>G (p.Leu332Arg)
c.1046T>G (p.Leu349Arg)
c.950T>G (p.Leu317Arg)
c.326T>G (p.Leu109Arg)
c.1139T>G (p.Leu380Arg)
c.1043T>G (p.Leu348Arg)
c.8370+134878A>C (n.8370+134878A>C)
2g.108907924A>GCA348050965EDAR,RANBP2c.899T>C (p.Leu300Pro)
c.995T>C (p.Leu332Pro)
c.1046T>C (p.Leu349Pro)
c.950T>C (p.Leu317Pro)
c.326T>C (p.Leu109Pro)
c.1139T>C (p.Leu380Pro)
c.1043T>C (p.Leu348Pro)
c.8370+134878A>G (n.8370+134878A>G)
 gnomAD v4
2g.108907924A>TCA348050966EDAR,RANBP2c.899T>A (p.Leu300Gln)
c.995T>A (p.Leu332Gln)
c.1046T>A (p.Leu349Gln)
c.950T>A (p.Leu317Gln)
c.326T>A (p.Leu109Gln)
c.1139T>A (p.Leu380Gln)
c.1043T>A (p.Leu348Gln)
c.8370+134878A>T (n.8370+134878A>T)
2g.108907925G>ACA427911928EDAR,RANBP2c.898C>T (p.Leu300=)
c.994C>T (p.Leu332=)
c.1045C>T (p.Leu349=)
c.949C>T (p.Leu317=)
c.325C>T (p.Leu109=)
c.1138C>T (p.Leu380=)
c.1042C>T (p.Leu348=)
c.8370+134879G>A (n.8370+134879G>A)
2g.108907925G>CCA348050968EDAR,RANBP2c.898C>G (p.Leu300Val)
c.994C>G (p.Leu332Val)
c.1045C>G (p.Leu349Val)
c.949C>G (p.Leu317Val)
c.325C>G (p.Leu109Val)
c.1138C>G (p.Leu380Val)
c.1042C>G (p.Leu348Val)
c.8370+134879G>C (n.8370+134879G>C)
2g.108907925G>TCA348050969EDAR,RANBP2c.898C>A (p.Leu300Met)
c.994C>A (p.Leu332Met)
c.1045C>A (p.Leu349Met)
c.949C>A (p.Leu317Met)
c.325C>A (p.Leu109Met)
c.1138C>A (p.Leu380Met)
c.1042C>A (p.Leu348Met)
c.8370+134879G>T (n.8370+134879G>T)
2g.108907926C>ACA348050970EDAR,RANBP2c.897G>T (p.Glu299Asp)
c.993G>T (p.Glu331Asp)
c.1044G>T (p.Glu348Asp)
c.948G>T (p.Glu316Asp)
c.324G>T (p.Glu108Asp)
c.1137G>T (p.Glu379Asp)
c.1041G>T (p.Glu347Asp)
c.8370+134880C>A (n.8370+134880C>A)
2g.108907926C=CA1278358955EDAR,RANBP2c.897G= (p.Glu299=)
c.993G= (p.Glu331=)
c.1044G= (p.Glu348=)
c.948G= (p.Glu316=)
c.324G= (p.Glu108=)
c.1137G= (p.Glu379=)
c.1041G= (p.Glu347=)
c.8370+134880C= (n.8370+134880C=)
2g.108907926C>GCA348050971EDAR,RANBP2c.897G>C (p.Glu299Asp)
c.993G>C (p.Glu331Asp)
c.1044G>C (p.Glu348Asp)
c.948G>C (p.Glu316Asp)
c.324G>C (p.Glu108Asp)
c.1137G>C (p.Glu379Asp)
c.1041G>C (p.Glu347Asp)
c.8370+134880C>G (n.8370+134880C>G)
2g.108907926C>TCA1824890EDAR,RANBP2c.897G>A (p.Glu299=)
c.993G>A (p.Glu331=)
c.1044G>A (p.Glu348=)
c.948G>A (p.Glu316=)
c.324G>A (p.Glu108=)
c.1137G>A (p.Glu379=)
c.1041G>A (p.Glu347=)
c.8370+134880C>T (n.8370+134880C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907927T>ACA348050972EDAR,RANBP2c.896A>T (p.Glu299Val)
c.992A>T (p.Glu331Val)
c.1043A>T (p.Glu348Val)
c.947A>T (p.Glu316Val)
c.323A>T (p.Glu108Val)
c.1136A>T (p.Glu379Val)
c.1040A>T (p.Glu347Val)
c.8370+134881T>A (n.8370+134881T>A)
 gnomAD v4
2g.108907927T>CCA348050973EDAR,RANBP2c.896A>G (p.Glu299Gly)
c.992A>G (p.Glu331Gly)
c.1043A>G (p.Glu348Gly)
c.947A>G (p.Glu316Gly)
c.323A>G (p.Glu108Gly)
c.1136A>G (p.Glu379Gly)
c.1040A>G (p.Glu347Gly)
c.8370+134881T>C (n.8370+134881T>C)
2g.108907927T>GCA348050974EDAR,RANBP2c.896A>C (p.Glu299Ala)
c.992A>C (p.Glu331Ala)
c.1043A>C (p.Glu348Ala)
c.947A>C (p.Glu316Ala)
c.323A>C (p.Glu108Ala)
c.1136A>C (p.Glu379Ala)
c.1040A>C (p.Glu347Ala)
c.8370+134881T>G (n.8370+134881T>G)
2g.108907928C>ACA348050975EDAR,RANBP2c.895G>T (p.Glu299Ter)
c.991G>T (p.Glu331Ter)
c.1042G>T (p.Glu348Ter)
c.946G>T (p.Glu316Ter)
c.322G>T (p.Glu108Ter)
c.1135G>T (p.Glu379Ter)
c.1039G>T (p.Glu347Ter)
c.8370+134882C>A (n.8370+134882C>A)
2g.108907928C=CA1278358956EDAR,RANBP2c.895G= (p.Glu299=)
c.991G= (p.Glu331=)
c.1042G= (p.Glu348=)
c.946G= (p.Glu316=)
c.322G= (p.Glu108=)
c.1135G= (p.Glu379=)
c.1039G= (p.Glu347=)
c.8370+134882C= (n.8370+134882C=)
2g.108907928C>GCA1824891EDAR,RANBP2c.895G>C (p.Glu299Gln)
c.991G>C (p.Glu331Gln)
c.1042G>C (p.Glu348Gln)
c.946G>C (p.Glu316Gln)
c.322G>C (p.Glu108Gln)
c.1135G>C (p.Glu379Gln)
c.1039G>C (p.Glu347Gln)
c.8370+134882C>G (n.8370+134882C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108907928C>TCA348050976EDAR,RANBP2c.895G>A (p.Glu299Lys)
c.991G>A (p.Glu331Lys)
c.1042G>A (p.Glu348Lys)
c.946G>A (p.Glu316Lys)
c.322G>A (p.Glu108Lys)
c.1135G>A (p.Glu379Lys)
c.1039G>A (p.Glu347Lys)
c.8370+134882C>T (n.8370+134882C>T)
 COSMIC COSMIC
2g.108907929C>ACA427911930EDAR,RANBP2c.894G>T (p.Pro298=)
c.990G>T (p.Pro330=)
c.1041G>T (p.Pro347=)
c.945G>T (p.Pro315=)
c.321G>T (p.Pro107=)
c.1134G>T (p.Pro378=)
c.1038G>T (p.Pro346=)
c.8370+134883C>A (n.8370+134883C>A)
2g.108907929C=CA1278358957EDAR,RANBP2c.894G= (p.Pro298=)
c.990G= (p.Pro330=)
c.1041G= (p.Pro347=)
c.945G= (p.Pro315=)
c.321G= (p.Pro107=)
c.1134G= (p.Pro378=)
c.1038G= (p.Pro346=)
c.8370+134883C= (n.8370+134883C=)
2g.108907929C>GCA427911931EDAR,RANBP2c.894G>C (p.Pro298=)
c.990G>C (p.Pro330=)
c.1041G>C (p.Pro347=)
c.945G>C (p.Pro315=)
c.321G>C (p.Pro107=)
c.1134G>C (p.Pro378=)
c.1038G>C (p.Pro346=)
c.8370+134883C>G (n.8370+134883C>G)
2g.108907929C>TCA1824892EDAR,RANBP2c.894G>A (p.Pro298=)
c.990G>A (p.Pro330=)
c.1041G>A (p.Pro347=)
c.945G>A (p.Pro315=)
c.321G>A (p.Pro107=)
c.1134G>A (p.Pro378=)
c.1038G>A (p.Pro346=)
c.8370+134883C>T (n.8370+134883C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907930G>ACA1824894EDAR,RANBP2c.893C>T (p.Pro298Leu)
c.989C>T (p.Pro330Leu)
c.1040C>T (p.Pro347Leu)
c.944C>T (p.Pro315Leu)
c.320C>T (p.Pro107Leu)
c.1133C>T (p.Pro378Leu)
c.1037C>T (p.Pro346Leu)
c.8370+134884G>A (n.8370+134884G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108907930G>CCA1824893EDAR,RANBP2c.893C>G (p.Pro298Arg)
c.989C>G (p.Pro330Arg)
c.1040C>G (p.Pro347Arg)
c.944C>G (p.Pro315Arg)
c.320C>G (p.Pro107Arg)
c.1133C>G (p.Pro378Arg)
c.1037C>G (p.Pro346Arg)
c.8370+134884G>C (n.8370+134884G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907930G=CA1278358958EDAR,RANBP2c.893C= (p.Pro298=)
c.989C= (p.Pro330=)
c.1040C= (p.Pro347=)
c.944C= (p.Pro315=)
c.320C= (p.Pro107=)
c.1133C= (p.Pro378=)
c.1037C= (p.Pro346=)
c.8370+134884G= (n.8370+134884G=)
2g.108907930G>TCA348050977EDAR,RANBP2c.893C>A (p.Pro298Gln)
c.989C>A (p.Pro330Gln)
c.1040C>A (p.Pro347Gln)
c.944C>A (p.Pro315Gln)
c.320C>A (p.Pro107Gln)
c.1133C>A (p.Pro378Gln)
c.1037C>A (p.Pro346Gln)
c.8370+134884G>T (n.8370+134884G>T)
 gnomAD v4
2g.108907931G>ACA348050978EDAR,RANBP2c.892C>T (p.Pro298Ser)
c.988C>T (p.Pro330Ser)
c.1039C>T (p.Pro347Ser)
c.943C>T (p.Pro315Ser)
c.319C>T (p.Pro107Ser)
c.1132C>T (p.Pro378Ser)
c.1036C>T (p.Pro346Ser)
c.8370+134885G>A (n.8370+134885G>A)
2g.108907931G>CCA348050979EDAR,RANBP2c.892C>G (p.Pro298Ala)
c.988C>G (p.Pro330Ala)
c.1039C>G (p.Pro347Ala)
c.943C>G (p.Pro315Ala)
c.319C>G (p.Pro107Ala)
c.1132C>G (p.Pro378Ala)
c.1036C>G (p.Pro346Ala)
c.8370+134885G>C (n.8370+134885G>C)
2g.108907931G>TCA348050980EDAR,RANBP2c.892C>A (p.Pro298Thr)
c.988C>A (p.Pro330Thr)
c.1039C>A (p.Pro347Thr)
c.943C>A (p.Pro315Thr)
c.319C>A (p.Pro107Thr)
c.1132C>A (p.Pro378Thr)
c.1036C>A (p.Pro346Thr)
c.8370+134885G>T (n.8370+134885G>T)
2g.108907932G>ACA427911932EDAR,RANBP2c.891C>T (p.Ser297=)
c.987C>T (p.Ser329=)
c.1038C>T (p.Ser346=)
c.942C>T (p.Ser314=)
c.318C>T (p.Ser106=)
c.1131C>T (p.Ser377=)
c.1035C>T (p.Ser345=)
c.8370+134886G>A (n.8370+134886G>A)
 gnomAD v4
2g.108907932G>CCA427911933EDAR,RANBP2c.891C>G (p.Ser297=)
c.987C>G (p.Ser329=)
c.1038C>G (p.Ser346=)
c.942C>G (p.Ser314=)
c.318C>G (p.Ser106=)
c.1131C>G (p.Ser377=)
c.1035C>G (p.Ser345=)
c.8370+134886G>C (n.8370+134886G>C)
2g.108907932G>TCA427911934EDAR,RANBP2c.891C>A (p.Ser297=)
c.987C>A (p.Ser329=)
c.1038C>A (p.Ser346=)
c.942C>A (p.Ser314=)
c.318C>A (p.Ser106=)
c.1131C>A (p.Ser377=)
c.1035C>A (p.Ser345=)
c.8370+134886G>T (n.8370+134886G>T)
2g.108907933G>ACA1824895EDAR,RANBP2c.890C>T (p.Ser297Phe)
c.986C>T (p.Ser329Phe)
c.1037C>T (p.Ser346Phe)
c.941C>T (p.Ser314Phe)
c.317C>T (p.Ser106Phe)
c.1130C>T (p.Ser377Phe)
c.1034C>T (p.Ser345Phe)
c.8370+134887G>A (n.8370+134887G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108907933G>CCA348050981EDAR,RANBP2c.890C>G (p.Ser297Cys)
c.986C>G (p.Ser329Cys)
c.1037C>G (p.Ser346Cys)
c.941C>G (p.Ser314Cys)
c.317C>G (p.Ser106Cys)
c.1130C>G (p.Ser377Cys)
c.1034C>G (p.Ser345Cys)
c.8370+134887G>C (n.8370+134887G>C)
 gnomAD v4
2g.108907933G=CA1278358959EDAR,RANBP2c.890C= (p.Ser297=)
c.986C= (p.Ser329=)
c.1037C= (p.Ser346=)
c.941C= (p.Ser314=)
c.317C= (p.Ser106=)
c.1130C= (p.Ser377=)
c.1034C= (p.Ser345=)
c.8370+134887G= (n.8370+134887G=)
2g.108907933G>TCA348050982EDAR,RANBP2c.890C>A (p.Ser297Tyr)
c.986C>A (p.Ser329Tyr)
c.1037C>A (p.Ser346Tyr)
c.941C>A (p.Ser314Tyr)
c.317C>A (p.Ser106Tyr)
c.1130C>A (p.Ser377Tyr)
c.1034C>A (p.Ser345Tyr)
c.8370+134887G>T (n.8370+134887G>T)
 gnomAD v4
2g.108907933_108907940delinsGAGCCCTGCA1278358960EDAR,RANBP2c.883_890delinsCAGGGCTC (p.Gln295=)
c.979_986delinsCAGGGCTC (p.Gln327=)
c.1030_1037delinsCAGGGCTC (p.Gln344=)
c.934_941delinsCAGGGCTC (p.Gln312=)
c.310_317delinsCAGGGCTC (p.Gln104=)
c.1123_1130delinsCAGGGCTC (p.Gln375=)
c.1027_1034delinsCAGGGCTC (p.Gln343=)
c.8370+134887_8370+134894delinsGAGCCCTG (n.8370+134887_8370+134894delinsGAGCCCTG)
2g.108907934A>CCA348050983EDAR,RANBP2c.889T>G (p.Ser297Ala)
c.985T>G (p.Ser329Ala)
c.1036T>G (p.Ser346Ala)
c.940T>G (p.Ser314Ala)
c.316T>G (p.Ser106Ala)
c.1129T>G (p.Ser377Ala)
c.1033T>G (p.Ser345Ala)
c.8370+134888A>C (n.8370+134888A>C)
2g.108907934A>GCA348050984EDAR,RANBP2c.889T>C (p.Ser297Pro)
c.985T>C (p.Ser329Pro)
c.1036T>C (p.Ser346Pro)
c.940T>C (p.Ser314Pro)
c.316T>C (p.Ser106Pro)
c.1129T>C (p.Ser377Pro)
c.1033T>C (p.Ser345Pro)
c.8370+134888A>G (n.8370+134888A>G)
 gnomAD v4
2g.108907934A>TCA348050985EDAR,RANBP2c.889T>A (p.Ser297Thr)
c.985T>A (p.Ser329Thr)
c.1036T>A (p.Ser346Thr)
c.940T>A (p.Ser314Thr)
c.316T>A (p.Ser106Thr)
c.1129T>A (p.Ser377Thr)
c.1033T>A (p.Ser345Thr)
c.8370+134888A>T (n.8370+134888A>T)
2g.108907934_108907940delinsCGGGCTCCTCATCACA16617225EDAR,RANBP2c.883_889delinsTGATGAGGAGCCCG (p.Gln295Ter)
c.979_985delinsTGATGAGGAGCCCG (p.Gln327Ter)
c.1030_1036delinsTGATGAGGAGCCCG (p.Gln344Ter)
c.934_940delinsTGATGAGGAGCCCG (p.Gln312Ter)
c.310_316delinsTGATGAGGAGCCCG (p.Gln104Ter)
c.1123_1129delinsTGATGAGGAGCCCG (p.Gln375Ter)
c.1027_1033delinsTGATGAGGAGCCCG (p.Gln343Ter)
c.8370+134888_8370+134894delinsCGGGCTCCTCATCA (n.8370+134888_8370+134894delinsCGGGCTCCTCATCA)
 ClinVar dbSNP
2g.108907935G>ACA427911935EDAR,RANBP2c.888C>T (p.Gly296=)
c.984C>T (p.Gly328=)
c.1035C>T (p.Gly345=)
c.939C>T (p.Gly313=)
c.315C>T (p.Gly105=)
c.1128C>T (p.Gly376=)
c.1032C>T (p.Gly344=)
c.8370+134889G>A (n.8370+134889G>A)
 gnomAD v4
2g.108907935G>CCA427911936EDAR,RANBP2c.888C>G (p.Gly296=)
c.984C>G (p.Gly328=)
c.1035C>G (p.Gly345=)
c.939C>G (p.Gly313=)
c.315C>G (p.Gly105=)
c.1128C>G (p.Gly376=)
c.1032C>G (p.Gly344=)
c.8370+134889G>C (n.8370+134889G>C)
2g.108907935G>TCA427911937EDAR,RANBP2c.888C>A (p.Gly296=)
c.984C>A (p.Gly328=)
c.1035C>A (p.Gly345=)
c.939C>A (p.Gly313=)
c.315C>A (p.Gly105=)
c.1128C>A (p.Gly376=)
c.1032C>A (p.Gly344=)
c.8370+134889G>T (n.8370+134889G>T)
 gnomAD v4
2g.108907936C>ACA53473309EDAR,RANBP2c.887G>T (p.Gly296Val)
c.983G>T (p.Gly328Val)
c.1034G>T (p.Gly345Val)
c.938G>T (p.Gly313Val)
c.314G>T (p.Gly105Val)
c.1127G>T (p.Gly376Val)
c.1031G>T (p.Gly344Val)
c.8370+134890C>A (n.8370+134890C>A)
 dbSNP
2g.108907936C=CA1278358961EDAR,RANBP2c.887G= (p.Gly296=)
c.983G= (p.Gly328=)
c.1034G= (p.Gly345=)
c.938G= (p.Gly313=)
c.314G= (p.Gly105=)
c.1127G= (p.Gly376=)
c.1031G= (p.Gly344=)
c.8370+134890C= (n.8370+134890C=)
2g.108907936C>GCA348050987EDAR,RANBP2c.887G>C (p.Gly296Ala)
c.983G>C (p.Gly328Ala)
c.1034G>C (p.Gly345Ala)
c.938G>C (p.Gly313Ala)
c.314G>C (p.Gly105Ala)
c.1127G>C (p.Gly376Ala)
c.1031G>C (p.Gly344Ala)
c.8370+134890C>G (n.8370+134890C>G)
2g.108907936C>TCA348050986EDAR,RANBP2c.887G>A (p.Gly296Asp)
c.983G>A (p.Gly328Asp)
c.1034G>A (p.Gly345Asp)
c.938G>A (p.Gly313Asp)
c.314G>A (p.Gly105Asp)
c.1127G>A (p.Gly376Asp)
c.1031G>A (p.Gly344Asp)
c.8370+134890C>T (n.8370+134890C>T)
2g.108907937C>ACA348050988EDAR,RANBP2c.886G>T (p.Gly296Cys)
c.982G>T (p.Gly328Cys)
c.1033G>T (p.Gly345Cys)
c.937G>T (p.Gly313Cys)
c.313G>T (p.Gly105Cys)
c.1126G>T (p.Gly376Cys)
c.1030G>T (p.Gly344Cys)
c.8370+134891C>A (n.8370+134891C>A)
2g.108907937C=CA1278358962EDAR,RANBP2c.886G= (p.Gly296=)
c.982G= (p.Gly328=)
c.1033G= (p.Gly345=)
c.937G= (p.Gly313=)
c.313G= (p.Gly105=)
c.1126G= (p.Gly376=)
c.1030G= (p.Gly344=)
c.8370+134891C= (n.8370+134891C=)
2g.108907937C>GCA1824896EDAR,RANBP2c.886G>C (p.Gly296Arg)
c.982G>C (p.Gly328Arg)
c.1033G>C (p.Gly345Arg)
c.937G>C (p.Gly313Arg)
c.313G>C (p.Gly105Arg)
c.1126G>C (p.Gly376Arg)
c.1030G>C (p.Gly344Arg)
c.8370+134891C>G (n.8370+134891C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108907937C>TCA348050989EDAR,RANBP2c.886G>A (p.Gly296Ser)
c.982G>A (p.Gly328Ser)
c.1033G>A (p.Gly345Ser)
c.937G>A (p.Gly313Ser)
c.313G>A (p.Gly105Ser)
c.1126G>A (p.Gly376Ser)
c.1030G>A (p.Gly344Ser)
c.8370+134891C>T (n.8370+134891C>T)
2g.108907938C>ACA348050990EDAR,RANBP2c.885G>T (p.Gln295His)
c.981G>T (p.Gln327His)
c.1032G>T (p.Gln344His)
c.936G>T (p.Gln312His)
c.312G>T (p.Gln104His)
c.1125G>T (p.Gln375His)
c.1029G>T (p.Gln343His)
c.8370+134892C>A (n.8370+134892C>A)
2g.108907938C>GCA348050991EDAR,RANBP2c.885G>C (p.Gln295His)
c.981G>C (p.Gln327His)
c.1032G>C (p.Gln344His)
c.936G>C (p.Gln312His)
c.312G>C (p.Gln104His)
c.1125G>C (p.Gln375His)
c.1029G>C (p.Gln343His)
c.8370+134892C>G (n.8370+134892C>G)
2g.108907938C>TCA427911938EDAR,RANBP2c.885G>A (p.Gln295=)
c.981G>A (p.Gln327=)
c.1032G>A (p.Gln344=)
c.936G>A (p.Gln312=)
c.312G>A (p.Gln104=)
c.1125G>A (p.Gln375=)
c.1029G>A (p.Gln343=)
c.8370+134892C>T (n.8370+134892C>T)
2g.108907939T>ACA348050992EDAR,RANBP2c.884A>T (p.Gln295Leu)
c.980A>T (p.Gln327Leu)
c.1031A>T (p.Gln344Leu)
c.935A>T (p.Gln312Leu)
c.311A>T (p.Gln104Leu)
c.1124A>T (p.Gln375Leu)
c.1028A>T (p.Gln343Leu)
c.8370+134893T>A (n.8370+134893T>A)
2g.108907939T>CCA348050993EDAR,RANBP2c.884A>G (p.Gln295Arg)
c.980A>G (p.Gln327Arg)
c.1031A>G (p.Gln344Arg)
c.935A>G (p.Gln312Arg)
c.311A>G (p.Gln104Arg)
c.1124A>G (p.Gln375Arg)
c.1028A>G (p.Gln343Arg)
c.8370+134893T>C (n.8370+134893T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108907939T>GCA348050994EDAR,RANBP2c.884A>C (p.Gln295Pro)
c.980A>C (p.Gln327Pro)
c.1031A>C (p.Gln344Pro)
c.935A>C (p.Gln312Pro)
c.311A>C (p.Gln104Pro)
c.1124A>C (p.Gln375Pro)
c.1028A>C (p.Gln343Pro)
c.8370+134893T>G (n.8370+134893T>G)
 gnomAD v4
2g.108907939T=CA1278358963EDAR,RANBP2c.884A= (p.Gln295=)
c.980A= (p.Gln327=)
c.1031A= (p.Gln344=)
c.935A= (p.Gln312=)
c.311A= (p.Gln104=)
c.1124A= (p.Gln375=)
c.1028A= (p.Gln343=)
c.8370+134893T= (n.8370+134893T=)
2g.108907940G>ACA348050995EDAR,RANBP2c.883C>T (p.Gln295Ter)
c.979C>T (p.Gln327Ter)
c.1030C>T (p.Gln344Ter)
c.934C>T (p.Gln312Ter)
c.310C>T (p.Gln104Ter)
c.1123C>T (p.Gln375Ter)
c.1027C>T (p.Gln343Ter)
c.8370+134894G>A (n.8370+134894G>A)
2g.108907940G>CCA348050996EDAR,RANBP2c.883C>G (p.Gln295Glu)
c.979C>G (p.Gln327Glu)
c.1030C>G (p.Gln344Glu)
c.934C>G (p.Gln312Glu)
c.310C>G (p.Gln104Glu)
c.1123C>G (p.Gln375Glu)
c.1027C>G (p.Gln343Glu)
c.8370+134894G>C (n.8370+134894G>C)
2g.108907940G=CA1278358964EDAR,RANBP2c.883C= (p.Gln295=)
c.979C= (p.Gln327=)
c.1030C= (p.Gln344=)
c.934C= (p.Gln312=)
c.310C= (p.Gln104=)
c.1123C= (p.Gln375=)
c.1027C= (p.Gln343=)
c.8370+134894G= (n.8370+134894G=)
2g.108907940G>TCA348050997EDAR,RANBP2c.883C>A (p.Gln295Lys)
c.979C>A (p.Gln327Lys)
c.1030C>A (p.Gln344Lys)
c.934C>A (p.Gln312Lys)
c.310C>A (p.Gln104Lys)
c.1123C>A (p.Gln375Lys)
c.1027C>A (p.Gln343Lys)
c.8370+134894G>T (n.8370+134894G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108907941C>ACA348050998EDAR,RANBP2c.882G>T (p.Lys294Asn)
c.978G>T (p.Lys326Asn)
c.1029G>T (p.Lys343Asn)
c.933G>T (p.Lys311Asn)
c.309G>T (p.Lys103Asn)
c.1122G>T (p.Lys374Asn)
c.1026G>T (p.Lys342Asn)
c.8370+134895C>A (n.8370+134895C>A)
 gnomAD v4
2g.108907941C>GCA348050999EDAR,RANBP2c.882G>C (p.Lys294Asn)
c.978G>C (p.Lys326Asn)
c.1029G>C (p.Lys343Asn)
c.933G>C (p.Lys311Asn)
c.309G>C (p.Lys103Asn)
c.1122G>C (p.Lys374Asn)
c.1026G>C (p.Lys342Asn)
c.8370+134895C>G (n.8370+134895C>G)
2g.108907941C>TCA427911939EDAR,RANBP2c.882G>A (p.Lys294=)
c.978G>A (p.Lys326=)
c.1029G>A (p.Lys343=)
c.933G>A (p.Lys311=)
c.309G>A (p.Lys103=)
c.1122G>A (p.Lys374=)
c.1026G>A (p.Lys342=)
c.8370+134895C>T (n.8370+134895C>T)
 gnomAD v4
2g.108907942T>ACA348051000EDAR,RANBP2c.881A>T (p.Lys294Met)
c.977A>T (p.Lys326Met)
c.1028A>T (p.Lys343Met)
c.932A>T (p.Lys311Met)
c.308A>T (p.Lys103Met)
c.1121A>T (p.Lys374Met)
c.1025A>T (p.Lys342Met)
c.8370+134896T>A (n.8370+134896T>A)
2g.108907942T>CCA1824897EDAR,RANBP2c.881A>G (p.Lys294Arg)
c.977A>G (p.Lys326Arg)
c.1028A>G (p.Lys343Arg)
c.932A>G (p.Lys311Arg)
c.308A>G (p.Lys103Arg)
c.1121A>G (p.Lys374Arg)
c.1025A>G (p.Lys342Arg)
c.8370+134896T>C (n.8370+134896T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.108907942T>GCA348051001EDAR,RANBP2c.881A>C (p.Lys294Thr)
c.977A>C (p.Lys326Thr)
c.1028A>C (p.Lys343Thr)
c.932A>C (p.Lys311Thr)
c.308A>C (p.Lys103Thr)
c.1121A>C (p.Lys374Thr)
c.1025A>C (p.Lys342Thr)
c.8370+134896T>G (n.8370+134896T>G)
2g.108907942T=CA1278358965EDAR,RANBP2c.881A= (p.Lys294=)
c.977A= (p.Lys326=)
c.1028A= (p.Lys343=)
c.932A= (p.Lys311=)
c.308A= (p.Lys103=)
c.1121A= (p.Lys374=)
c.1025A= (p.Lys342=)
c.8370+134896T= (n.8370+134896T=)
2g.108907943T>ACA348051002EDAR,RANBP2c.880A>T (p.Lys294Ter)
c.976A>T (p.Lys326Ter)
c.1027A>T (p.Lys343Ter)
c.931A>T (p.Lys311Ter)
c.307A>T (p.Lys103Ter)
c.1120A>T (p.Lys374Ter)
c.1024A>T (p.Lys342Ter)
c.8370+134897T>A (n.8370+134897T>A)
2g.108907943T>CCA348051003EDAR,RANBP2c.880A>G (p.Lys294Glu)
c.976A>G (p.Lys326Glu)
c.1027A>G (p.Lys343Glu)
c.931A>G (p.Lys311Glu)
c.307A>G (p.Lys103Glu)
c.1120A>G (p.Lys374Glu)
c.1024A>G (p.Lys342Glu)
c.8370+134897T>C (n.8370+134897T>C)
 gnomAD v4
2g.108907943T>GCA348051004EDAR,RANBP2c.880A>C (p.Lys294Gln)
c.976A>C (p.Lys326Gln)
c.1027A>C (p.Lys343Gln)
c.931A>C (p.Lys311Gln)
c.307A>C (p.Lys103Gln)
c.1120A>C (p.Lys374Gln)
c.1024A>C (p.Lys342Gln)
c.8370+134897T>G (n.8370+134897T>G)
 gnomAD v4
2g.108907944G>ACA427911940EDAR,RANBP2c.879C>T (p.Asp293=)
c.975C>T (p.Asp325=)
c.1026C>T (p.Asp342=)
c.930C>T (p.Asp310=)
c.306C>T (p.Asp102=)
c.1119C>T (p.Asp373=)
c.1023C>T (p.Asp341=)
c.8370+134898G>A (n.8370+134898G>A)
2g.108907944G>CCA348051005EDAR,RANBP2c.879C>G (p.Asp293Glu)
c.975C>G (p.Asp325Glu)
c.1026C>G (p.Asp342Glu)
c.930C>G (p.Asp310Glu)
c.306C>G (p.Asp102Glu)
c.1119C>G (p.Asp373Glu)
c.1023C>G (p.Asp341Glu)
c.8370+134898G>C (n.8370+134898G>C)
 gnomAD v4
2g.108907944G>TCA348051006EDAR,RANBP2c.879C>A (p.Asp293Glu)
c.975C>A (p.Asp325Glu)
c.1026C>A (p.Asp342Glu)
c.930C>A (p.Asp310Glu)
c.306C>A (p.Asp102Glu)
c.1119C>A (p.Asp373Glu)
c.1023C>A (p.Asp341Glu)
c.8370+134898G>T (n.8370+134898G>T)
2g.108907945T>ACA348051007EDAR,RANBP2c.878A>T (p.Asp293Val)
c.974A>T (p.Asp325Val)
c.1025A>T (p.Asp342Val)
c.929A>T (p.Asp310Val)
c.305A>T (p.Asp102Val)
c.1118A>T (p.Asp373Val)
c.1022A>T (p.Asp341Val)
c.8370+134899T>A (n.8370+134899T>A)
2g.108907945T>CCA348051008EDAR,RANBP2c.878A>G (p.Asp293Gly)
c.974A>G (p.Asp325Gly)
c.1025A>G (p.Asp342Gly)
c.929A>G (p.Asp310Gly)
c.305A>G (p.Asp102Gly)
c.1118A>G (p.Asp373Gly)
c.1022A>G (p.Asp341Gly)
c.8370+134899T>C (n.8370+134899T>C)
2g.108907945T>GCA348051009EDAR,RANBP2c.878A>C (p.Asp293Ala)
c.974A>C (p.Asp325Ala)
c.1025A>C (p.Asp342Ala)
c.929A>C (p.Asp310Ala)
c.305A>C (p.Asp102Ala)
c.1118A>C (p.Asp373Ala)
c.1022A>C (p.Asp341Ala)
c.8370+134899T>G (n.8370+134899T>G)
2g.108907946C>ACA348051010EDAR,RANBP2c.877G>T (p.Asp293Tyr)
c.973G>T (p.Asp325Tyr)
c.1024G>T (p.Asp342Tyr)
c.928G>T (p.Asp310Tyr)
c.304G>T (p.Asp102Tyr)
c.1117G>T (p.Asp373Tyr)
c.1021G>T (p.Asp341Tyr)
c.8370+134900C>A (n.8370+134900C>A)
2g.108907946C>GCA348051011EDAR,RANBP2c.877G>C (p.Asp293His)
c.973G>C (p.Asp325His)
c.1024G>C (p.Asp342His)
c.928G>C (p.Asp310His)
c.304G>C (p.Asp102His)
c.1117G>C (p.Asp373His)
c.1021G>C (p.Asp341His)
c.8370+134900C>G (n.8370+134900C>G)
2g.108907946C>TCA348051012EDAR,RANBP2c.877G>A (p.Asp293Asn)
c.973G>A (p.Asp325Asn)
c.1024G>A (p.Asp342Asn)
c.928G>A (p.Asp310Asn)
c.304G>A (p.Asp102Asn)
c.1117G>A (p.Asp373Asn)
c.1021G>A (p.Asp341Asn)
c.8370+134900C>T (n.8370+134900C>T)
2g.108907947A>CCA427911941EDAR,RANBP2c.876T>G (p.Pro292=)
c.972T>G (p.Pro324=)
c.1023T>G (p.Pro341=)
c.927T>G (p.Pro309=)
c.303T>G (p.Pro101=)
c.1116T>G (p.Pro372=)
c.1020T>G (p.Pro340=)
c.8370+134901A>C (n.8370+134901A>C)
2g.108907947A>GCA427911943EDAR,RANBP2c.876T>C (p.Pro292=)
c.972T>C (p.Pro324=)
c.1023T>C (p.Pro341=)
c.927T>C (p.Pro309=)
c.303T>C (p.Pro101=)
c.1116T>C (p.Pro372=)
c.1020T>C (p.Pro340=)
c.8370+134901A>G (n.8370+134901A>G)
2g.108907947A>TCA427911942EDAR,RANBP2c.876T>A (p.Pro292=)
c.972T>A (p.Pro324=)
c.1023T>A (p.Pro341=)
c.927T>A (p.Pro309=)
c.303T>A (p.Pro101=)
c.1116T>A (p.Pro372=)
c.1020T>A (p.Pro340=)
c.8370+134901A>T (n.8370+134901A>T)
2g.108907948G>ACA348051014EDAR,RANBP2c.875C>T (p.Pro292Leu)
c.971C>T (p.Pro324Leu)
c.1022C>T (p.Pro341Leu)
c.926C>T (p.Pro309Leu)
c.302C>T (p.Pro101Leu)
c.1115C>T (p.Pro372Leu)
c.1019C>T (p.Pro340Leu)
c.8370+134902G>A (n.8370+134902G>A)
2g.108907948G>CCA348051015EDAR,RANBP2c.875C>G (p.Pro292Arg)
c.971C>G (p.Pro324Arg)
c.1022C>G (p.Pro341Arg)
c.926C>G (p.Pro309Arg)
c.302C>G (p.Pro101Arg)
c.1115C>G (p.Pro372Arg)
c.1019C>G (p.Pro340Arg)
c.8370+134902G>C (n.8370+134902G>C)
2g.108907948G>TCA348051013EDAR,RANBP2c.875C>A (p.Pro292His)
c.971C>A (p.Pro324His)
c.1022C>A (p.Pro341His)
c.926C>A (p.Pro309His)
c.302C>A (p.Pro101His)
c.1115C>A (p.Pro372His)
c.1019C>A (p.Pro340His)
c.8370+134902G>T (n.8370+134902G>T)
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)

Number of alleles fetched