Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897149C>ACA348048210EDAR,RANBP2c.1105G>T (p.Ala369Ser)
c.1201G>T (p.Ala401Ser)
c.1252G>T (p.Ala418Ser)
c.1156G>T (p.Ala386Ser)
c.532G>T (p.Ala178Ser)
c.1345G>T (p.Ala449Ser)
c.1249G>T (p.Ala417Ser)
c.8370+124103C>A (n.8370+124103C>A)
 gnomAD v4
2g.108897149C=CA1278354299EDAR,RANBP2c.1105G= (p.Ala369=)
c.1201G= (p.Ala401=)
c.1252G= (p.Ala418=)
c.1156G= (p.Ala386=)
c.532G= (p.Ala178=)
c.1345G= (p.Ala449=)
c.1249G= (p.Ala417=)
c.8370+124103C= (n.8370+124103C=)
2g.108897149C>GCA1824816EDAR,RANBP2c.1105G>C (p.Ala369Pro)
c.1201G>C (p.Ala401Pro)
c.1252G>C (p.Ala418Pro)
c.1156G>C (p.Ala386Pro)
c.532G>C (p.Ala178Pro)
c.1345G>C (p.Ala449Pro)
c.1249G>C (p.Ala417Pro)
c.8370+124103C>G (n.8370+124103C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897149C>TCA348048212EDAR,RANBP2c.1105G>A (p.Ala369Thr)
c.1201G>A (p.Ala401Thr)
c.1252G>A (p.Ala418Thr)
c.1156G>A (p.Ala386Thr)
c.532G>A (p.Ala178Thr)
c.1345G>A (p.Ala449Thr)
c.1249G>A (p.Ala417Thr)
c.8370+124103C>T (n.8370+124103C>T)
 gnomAD v4
2g.108897150C>ACA348048214EDAR,RANBP2c.1104G>T (p.Lys368Asn)
c.1200G>T (p.Lys400Asn)
c.1251G>T (p.Lys417Asn)
c.1155G>T (p.Lys385Asn)
c.531G>T (p.Lys177Asn)
c.1344G>T (p.Lys448Asn)
c.1248G>T (p.Lys416Asn)
c.8370+124104C>A (n.8370+124104C>A)
2g.108897150C=CA1278354300EDAR,RANBP2c.1104G= (p.Lys368=)
c.1200G= (p.Lys400=)
c.1251G= (p.Lys417=)
c.1155G= (p.Lys385=)
c.531G= (p.Lys177=)
c.1344G= (p.Lys448=)
c.1248G= (p.Lys416=)
c.8370+124104C= (n.8370+124104C=)
2g.108897150C>GCA348048216EDAR,RANBP2c.1104G>C (p.Lys368Asn)
c.1200G>C (p.Lys400Asn)
c.1251G>C (p.Lys417Asn)
c.1155G>C (p.Lys385Asn)
c.531G>C (p.Lys177Asn)
c.1344G>C (p.Lys448Asn)
c.1248G>C (p.Lys416Asn)
c.8370+124104C>G (n.8370+124104C>G)
2g.108897150C>TCA1824817EDAR,RANBP2c.1104G>A (p.Lys368=)
c.1200G>A (p.Lys400=)
c.1251G>A (p.Lys417=)
c.1155G>A (p.Lys385=)
c.531G>A (p.Lys177=)
c.1344G>A (p.Lys448=)
c.1248G>A (p.Lys416=)
c.8370+124104C>T (n.8370+124104C>T)
 dbSNP ExAC
2g.108897151T>ACA348048219EDAR,RANBP2c.1103A>T (p.Lys368Met)
c.1199A>T (p.Lys400Met)
c.1250A>T (p.Lys417Met)
c.1154A>T (p.Lys385Met)
c.530A>T (p.Lys177Met)
c.1343A>T (p.Lys448Met)
c.1247A>T (p.Lys416Met)
c.8370+124105T>A (n.8370+124105T>A)
2g.108897151T>CCA348048221EDAR,RANBP2c.1103A>G (p.Lys368Arg)
c.1199A>G (p.Lys400Arg)
c.1250A>G (p.Lys417Arg)
c.1154A>G (p.Lys385Arg)
c.530A>G (p.Lys177Arg)
c.1343A>G (p.Lys448Arg)
c.1247A>G (p.Lys416Arg)
c.8370+124105T>C (n.8370+124105T>C)
2g.108897151T>GCA348048222EDAR,RANBP2c.1103A>C (p.Lys368Thr)
c.1199A>C (p.Lys400Thr)
c.1250A>C (p.Lys417Thr)
c.1154A>C (p.Lys385Thr)
c.530A>C (p.Lys177Thr)
c.1343A>C (p.Lys448Thr)
c.1247A>C (p.Lys416Thr)
c.8370+124105T>G (n.8370+124105T>G)
2g.108897152T>ACA348048224EDAR,RANBP2c.1102A>T (p.Lys368Ter)
c.1198A>T (p.Lys400Ter)
c.1249A>T (p.Lys417Ter)
c.1153A>T (p.Lys385Ter)
c.529A>T (p.Lys177Ter)
c.1342A>T (p.Lys448Ter)
c.1246A>T (p.Lys416Ter)
c.8370+124106T>A (n.8370+124106T>A)
2g.108897152T>CCA348048229EDAR,RANBP2c.1102A>G (p.Lys368Glu)
c.1198A>G (p.Lys400Glu)
c.1249A>G (p.Lys417Glu)
c.1153A>G (p.Lys385Glu)
c.529A>G (p.Lys177Glu)
c.1342A>G (p.Lys448Glu)
c.1246A>G (p.Lys416Glu)
c.8370+124106T>C (n.8370+124106T>C)
2g.108897152T>GCA348048226EDAR,RANBP2c.1102A>C (p.Lys368Gln)
c.1198A>C (p.Lys400Gln)
c.1249A>C (p.Lys417Gln)
c.1153A>C (p.Lys385Gln)
c.529A>C (p.Lys177Gln)
c.1342A>C (p.Lys448Gln)
c.1246A>C (p.Lys416Gln)
c.8370+124106T>G (n.8370+124106T>G)
2g.108897153C>ACA348048230EDAR,RANBP2c.1101G>T (p.Glu367Asp)
c.1197G>T (p.Glu399Asp)
c.1248G>T (p.Glu416Asp)
c.1152G>T (p.Glu384Asp)
c.528G>T (p.Glu176Asp)
c.1341G>T (p.Glu447Asp)
c.1245G>T (p.Glu415Asp)
c.8370+124107C>A (n.8370+124107C>A)
2g.108897153C>GCA348048232EDAR,RANBP2c.1101G>C (p.Glu367Asp)
c.1197G>C (p.Glu399Asp)
c.1248G>C (p.Glu416Asp)
c.1152G>C (p.Glu384Asp)
c.528G>C (p.Glu176Asp)
c.1341G>C (p.Glu447Asp)
c.1245G>C (p.Glu415Asp)
c.8370+124107C>G (n.8370+124107C>G)
2g.108897153C>TCA428204191EDAR,RANBP2c.1101G>A (p.Glu367=)
c.1197G>A (p.Glu399=)
c.1248G>A (p.Glu416=)
c.1152G>A (p.Glu384=)
c.528G>A (p.Glu176=)
c.1341G>A (p.Glu447=)
c.1245G>A (p.Glu415=)
c.8370+124107C>T (n.8370+124107C>T)
2g.108897154T>ACA348048234EDAR,RANBP2c.1100A>T (p.Glu367Val)
c.1196A>T (p.Glu399Val)
c.1247A>T (p.Glu416Val)
c.1151A>T (p.Glu384Val)
c.527A>T (p.Glu176Val)
c.1340A>T (p.Glu447Val)
c.1244A>T (p.Glu415Val)
c.8370+124108T>A (n.8370+124108T>A)
2g.108897154T>CCA348048236EDAR,RANBP2c.1100A>G (p.Glu367Gly)
c.1196A>G (p.Glu399Gly)
c.1247A>G (p.Glu416Gly)
c.1151A>G (p.Glu384Gly)
c.527A>G (p.Glu176Gly)
c.1340A>G (p.Glu447Gly)
c.1244A>G (p.Glu415Gly)
c.8370+124108T>C (n.8370+124108T>C)
2g.108897154T>GCA348048238EDAR,RANBP2c.1100A>C (p.Glu367Ala)
c.1196A>C (p.Glu399Ala)
c.1247A>C (p.Glu416Ala)
c.1151A>C (p.Glu384Ala)
c.527A>C (p.Glu176Ala)
c.1340A>C (p.Glu447Ala)
c.1244A>C (p.Glu415Ala)
c.8370+124108T>G (n.8370+124108T>G)
2g.108897155C>ACA348048240EDAR,RANBP2c.1099G>T (p.Glu367Ter)
c.1195G>T (p.Glu399Ter)
c.1246G>T (p.Glu416Ter)
c.1150G>T (p.Glu384Ter)
c.526G>T (p.Glu176Ter)
c.1339G>T (p.Glu447Ter)
c.1243G>T (p.Glu415Ter)
c.8370+124109C>A (n.8370+124109C>A)
2g.108897155C=CA1278354301EDAR,RANBP2c.1099G= (p.Glu367=)
c.1195G= (p.Glu399=)
c.1246G= (p.Glu416=)
c.1150G= (p.Glu384=)
c.526G= (p.Glu176=)
c.1339G= (p.Glu447=)
c.1243G= (p.Glu415=)
c.8370+124109C= (n.8370+124109C=)
2g.108897155C>GCA348048242EDAR,RANBP2c.1099G>C (p.Glu367Gln)
c.1195G>C (p.Glu399Gln)
c.1246G>C (p.Glu416Gln)
c.1150G>C (p.Glu384Gln)
c.526G>C (p.Glu176Gln)
c.1339G>C (p.Glu447Gln)
c.1243G>C (p.Glu415Gln)
c.8370+124109C>G (n.8370+124109C>G)
2g.108897155C>TCA1824818EDAR,RANBP2c.1099G>A (p.Glu367Lys)
c.1195G>A (p.Glu399Lys)
c.1246G>A (p.Glu416Lys)
c.1150G>A (p.Glu384Lys)
c.526G>A (p.Glu176Lys)
c.1339G>A (p.Glu447Lys)
c.1243G>A (p.Glu415Lys)
c.8370+124109C>T (n.8370+124109C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897156A>CCA427910818EDAR,RANBP2c.1098T>G (p.Ser366=)
c.1194T>G (p.Ser398=)
c.1245T>G (p.Ser415=)
c.1149T>G (p.Ser383=)
c.525T>G (p.Ser175=)
c.1338T>G (p.Ser446=)
c.1242T>G (p.Ser414=)
c.8370+124110A>C (n.8370+124110A>C)
2g.108897156A>GCA427910819EDAR,RANBP2c.1098T>C (p.Ser366=)
c.1194T>C (p.Ser398=)
c.1245T>C (p.Ser415=)
c.1149T>C (p.Ser383=)
c.525T>C (p.Ser175=)
c.1338T>C (p.Ser446=)
c.1242T>C (p.Ser414=)
c.8370+124110A>G (n.8370+124110A>G)
2g.108897156A>TCA427910820EDAR,RANBP2c.1098T>A (p.Ser366=)
c.1194T>A (p.Ser398=)
c.1245T>A (p.Ser415=)
c.1149T>A (p.Ser383=)
c.525T>A (p.Ser175=)
c.1338T>A (p.Ser446=)
c.1242T>A (p.Ser414=)
c.8370+124110A>T (n.8370+124110A>T)
2g.108897158_108897159delCA2580611686EDAR,RANBP2c.1097_1098del (p.Ser366Ter)
c.1193_1194del (p.Ser398Ter)
c.1244_1245del (p.Ser415Ter)
c.1148_1149del (p.Ser383Ter)
c.524_525del (p.Ser175Ter)
c.1337_1338del (p.Ser446Ter)
c.1241_1242del (p.Ser414Ter)
c.8370+124112_8370+124113del (n.8370+124112_8370+124113del)
 ClinVar dbSNP
2g.108897157G>ACA348048245EDAR,RANBP2c.1097C>T (p.Ser366Phe)
c.1193C>T (p.Ser398Phe)
c.1244C>T (p.Ser415Phe)
c.1148C>T (p.Ser383Phe)
c.524C>T (p.Ser175Phe)
c.1337C>T (p.Ser446Phe)
c.1241C>T (p.Ser414Phe)
c.8370+124111G>A (n.8370+124111G>A)
 dbSNP COSMIC COSMIC
2g.108897157G>CCA348048248EDAR,RANBP2c.1097C>G (p.Ser366Cys)
c.1193C>G (p.Ser398Cys)
c.1244C>G (p.Ser415Cys)
c.1148C>G (p.Ser383Cys)
c.524C>G (p.Ser175Cys)
c.1337C>G (p.Ser446Cys)
c.1241C>G (p.Ser414Cys)
c.8370+124111G>C (n.8370+124111G>C)
2g.108897157G=CA1278354302EDAR,RANBP2c.1097C= (p.Ser366=)
c.1193C= (p.Ser398=)
c.1244C= (p.Ser415=)
c.1148C= (p.Ser383=)
c.524C= (p.Ser175=)
c.1337C= (p.Ser446=)
c.1241C= (p.Ser414=)
c.8370+124111G= (n.8370+124111G=)
2g.108897157G>TCA348048250EDAR,RANBP2c.1097C>A (p.Ser366Tyr)
c.1193C>A (p.Ser398Tyr)
c.1244C>A (p.Ser415Tyr)
c.1148C>A (p.Ser383Tyr)
c.524C>A (p.Ser175Tyr)
c.1337C>A (p.Ser446Tyr)
c.1241C>A (p.Ser414Tyr)
c.8370+124111G>T (n.8370+124111G>T)
2g.108897158A>CCA348048252EDAR,RANBP2c.1096T>G (p.Ser366Ala)
c.1192T>G (p.Ser398Ala)
c.1243T>G (p.Ser415Ala)
c.1147T>G (p.Ser383Ala)
c.523T>G (p.Ser175Ala)
c.1336T>G (p.Ser446Ala)
c.1240T>G (p.Ser414Ala)
c.8370+124112A>C (n.8370+124112A>C)
2g.108897158A>GCA348048253EDAR,RANBP2c.1096T>C (p.Ser366Pro)
c.1192T>C (p.Ser398Pro)
c.1243T>C (p.Ser415Pro)
c.1147T>C (p.Ser383Pro)
c.523T>C (p.Ser175Pro)
c.1336T>C (p.Ser446Pro)
c.1240T>C (p.Ser414Pro)
c.8370+124112A>G (n.8370+124112A>G)
 gnomAD v4
2g.108897158A>TCA348048255EDAR,RANBP2c.1096T>A (p.Ser366Thr)
c.1192T>A (p.Ser398Thr)
c.1243T>A (p.Ser415Thr)
c.1147T>A (p.Ser383Thr)
c.523T>A (p.Ser175Thr)
c.1336T>A (p.Ser446Thr)
c.1240T>A (p.Ser414Thr)
c.8370+124112A>T (n.8370+124112A>T)
2g.108897159G>ACA427910823EDAR,RANBP2c.1095C>T (p.Asn365=)
c.1191C>T (p.Asn397=)
c.1242C>T (p.Asn414=)
c.1146C>T (p.Asn382=)
c.522C>T (p.Asn174=)
c.1335C>T (p.Asn445=)
c.1239C>T (p.Asn413=)
c.8370+124113G>A (n.8370+124113G>A)
2g.108897159G>CCA348048257EDAR,RANBP2c.1095C>G (p.Asn365Lys)
c.1191C>G (p.Asn397Lys)
c.1242C>G (p.Asn414Lys)
c.1146C>G (p.Asn382Lys)
c.522C>G (p.Asn174Lys)
c.1335C>G (p.Asn445Lys)
c.1239C>G (p.Asn413Lys)
c.8370+124113G>C (n.8370+124113G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.108897159G=CA1278354303EDAR,RANBP2c.1095C= (p.Asn365=)
c.1191C= (p.Asn397=)
c.1242C= (p.Asn414=)
c.1146C= (p.Asn382=)
c.522C= (p.Asn174=)
c.1335C= (p.Asn445=)
c.1239C= (p.Asn413=)
c.8370+124113G= (n.8370+124113G=)
2g.108897159G>TCA348048259EDAR,RANBP2c.1095C>A (p.Asn365Lys)
c.1191C>A (p.Asn397Lys)
c.1242C>A (p.Asn414Lys)
c.1146C>A (p.Asn382Lys)
c.522C>A (p.Asn174Lys)
c.1335C>A (p.Asn445Lys)
c.1239C>A (p.Asn413Lys)
c.8370+124113G>T (n.8370+124113G>T)
2g.108897160T>ACA348048260EDAR,RANBP2c.1094A>T (p.Asn365Ile)
c.1190A>T (p.Asn397Ile)
c.1241A>T (p.Asn414Ile)
c.1145A>T (p.Asn382Ile)
c.521A>T (p.Asn174Ile)
c.1334A>T (p.Asn445Ile)
c.1238A>T (p.Asn413Ile)
c.8370+124114T>A (n.8370+124114T>A)
2g.108897160T>CCA348048262EDAR,RANBP2c.1094A>G (p.Asn365Ser)
c.1190A>G (p.Asn397Ser)
c.1241A>G (p.Asn414Ser)
c.1145A>G (p.Asn382Ser)
c.521A>G (p.Asn174Ser)
c.1334A>G (p.Asn445Ser)
c.1238A>G (p.Asn413Ser)
c.8370+124114T>C (n.8370+124114T>C)
 ClinVar dbSNP COSMIC COSMIC
2g.108897160T>GCA348048263EDAR,RANBP2c.1094A>C (p.Asn365Thr)
c.1190A>C (p.Asn397Thr)
c.1241A>C (p.Asn414Thr)
c.1145A>C (p.Asn382Thr)
c.521A>C (p.Asn174Thr)
c.1334A>C (p.Asn445Thr)
c.1238A>C (p.Asn413Thr)
c.8370+124114T>G (n.8370+124114T>G)
2g.108897160T=CA1278354304EDAR,RANBP2c.1094A= (p.Asn365=)
c.1190A= (p.Asn397=)
c.1241A= (p.Asn414=)
c.1145A= (p.Asn382=)
c.521A= (p.Asn174=)
c.1334A= (p.Asn445=)
c.1238A= (p.Asn413=)
c.8370+124114T= (n.8370+124114T=)
2g.108897161T>ACA348048265EDAR,RANBP2c.1093A>T (p.Asn365Tyr)
c.1189A>T (p.Asn397Tyr)
c.1240A>T (p.Asn414Tyr)
c.1144A>T (p.Asn382Tyr)
c.520A>T (p.Asn174Tyr)
c.1333A>T (p.Asn445Tyr)
c.1237A>T (p.Asn413Tyr)
c.8370+124115T>A (n.8370+124115T>A)
2g.108897161T>CCA348048267EDAR,RANBP2c.1093A>G (p.Asn365Asp)
c.1189A>G (p.Asn397Asp)
c.1240A>G (p.Asn414Asp)
c.1144A>G (p.Asn382Asp)
c.520A>G (p.Asn174Asp)
c.1333A>G (p.Asn445Asp)
c.1237A>G (p.Asn413Asp)
c.8370+124115T>C (n.8370+124115T>C)
2g.108897161T>GCA348048269EDAR,RANBP2c.1093A>C (p.Asn365His)
c.1189A>C (p.Asn397His)
c.1240A>C (p.Asn414His)
c.1144A>C (p.Asn382His)
c.520A>C (p.Asn174His)
c.1333A>C (p.Asn445His)
c.1237A>C (p.Asn413His)
c.8370+124115T>G (n.8370+124115T>G)
2g.108897162G>ACA427910826EDAR,RANBP2c.1092C>T (p.Tyr364=)
c.1188C>T (p.Tyr396=)
c.1239C>T (p.Tyr413=)
c.1143C>T (p.Tyr381=)
c.519C>T (p.Tyr173=)
c.1332C>T (p.Tyr444=)
c.1236C>T (p.Tyr412=)
c.8370+124116G>A (n.8370+124116G>A)
2g.108897162G>CCA348048273EDAR,RANBP2c.1092C>G (p.Tyr364Ter)
c.1188C>G (p.Tyr396Ter)
c.1239C>G (p.Tyr413Ter)
c.1143C>G (p.Tyr381Ter)
c.519C>G (p.Tyr173Ter)
c.1332C>G (p.Tyr444Ter)
c.1236C>G (p.Tyr412Ter)
c.8370+124116G>C (n.8370+124116G>C)
2g.108897162G>TCA348048275EDAR,RANBP2c.1092C>A (p.Tyr364Ter)
c.1188C>A (p.Tyr396Ter)
c.1239C>A (p.Tyr413Ter)
c.1143C>A (p.Tyr381Ter)
c.519C>A (p.Tyr173Ter)
c.1332C>A (p.Tyr444Ter)
c.1236C>A (p.Tyr412Ter)
c.8370+124116G>T (n.8370+124116G>T)
2g.108897163T>ACA348048278EDAR,RANBP2c.1091A>T (p.Tyr364Phe)
c.1187A>T (p.Tyr396Phe)
c.1238A>T (p.Tyr413Phe)
c.1142A>T (p.Tyr381Phe)
c.518A>T (p.Tyr173Phe)
c.1331A>T (p.Tyr444Phe)
c.1235A>T (p.Tyr412Phe)
c.8370+124117T>A (n.8370+124117T>A)
 dbSNP gnomAD v2

Number of alleles fetched