Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897118_108897119delCA2660593629EDAR,RANBP2c.1138_1139del (p.Ser380LeufsTer7)
c.1234_1235del (p.Ser412LeufsTer7)
c.1285_1286del (p.Ser429LeufsTer7)
c.1189_1190del (p.Ser397LeufsTer7)
c.565_566del (p.Ser189LeufsTer7)
c.1378_1379del (p.Ser460LeufsTer7)
c.1282_1283del (p.Ser428LeufsTer7)
c.8370+124072_8370+124073del (n.8370+124072_8370+124073del)
 gnomAD v4
2g.108897117C>ACA348048144EDAR,RANBP2c.1137G>T (p.Glu379Asp)
c.1233G>T (p.Glu411Asp)
c.1284G>T (p.Glu428Asp)
c.1188G>T (p.Glu396Asp)
c.564G>T (p.Glu188Asp)
c.1377G>T (p.Glu459Asp)
c.1281G>T (p.Glu427Asp)
c.8370+124071C>A (n.8370+124071C>A)
 dbSNP gnomAD v4
2g.108897117C=CA1278354283EDAR,RANBP2c.1137G= (p.Glu379=)
c.1233G= (p.Glu411=)
c.1284G= (p.Glu428=)
c.1188G= (p.Glu396=)
c.564G= (p.Glu188=)
c.1377G= (p.Glu459=)
c.1281G= (p.Glu427=)
c.8370+124071C= (n.8370+124071C=)
2g.108897117C>GCA348048145EDAR,RANBP2c.1137G>C (p.Glu379Asp)
c.1233G>C (p.Glu411Asp)
c.1284G>C (p.Glu428Asp)
c.1188G>C (p.Glu396Asp)
c.564G>C (p.Glu188Asp)
c.1377G>C (p.Glu459Asp)
c.1281G>C (p.Glu427Asp)
c.8370+124071C>G (n.8370+124071C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108897117C>TCA428204143EDAR,RANBP2c.1137G>A (p.Glu379=)
c.1233G>A (p.Glu411=)
c.1284G>A (p.Glu428=)
c.1188G>A (p.Glu396=)
c.564G>A (p.Glu188=)
c.1377G>A (p.Glu459=)
c.1281G>A (p.Glu427=)
c.8370+124071C>T (n.8370+124071C>T)
2g.108897118T>ACA348048148EDAR,RANBP2c.1136A>T (p.Glu379Val)
c.1232A>T (p.Glu411Val)
c.1283A>T (p.Glu428Val)
c.1187A>T (p.Glu396Val)
c.563A>T (p.Glu188Val)
c.1376A>T (p.Glu459Val)
c.1280A>T (p.Glu427Val)
c.8370+124072T>A (n.8370+124072T>A)
2g.108897118T>CCA348048146EDAR,RANBP2c.1136A>G (p.Glu379Gly)
c.1232A>G (p.Glu411Gly)
c.1283A>G (p.Glu428Gly)
c.1187A>G (p.Glu396Gly)
c.563A>G (p.Glu188Gly)
c.1376A>G (p.Glu459Gly)
c.1280A>G (p.Glu427Gly)
c.8370+124072T>C (n.8370+124072T>C)
2g.108897118T>GCA348048147EDAR,RANBP2c.1136A>C (p.Glu379Ala)
c.1232A>C (p.Glu411Ala)
c.1283A>C (p.Glu428Ala)
c.1187A>C (p.Glu396Ala)
c.563A>C (p.Glu188Ala)
c.1376A>C (p.Glu459Ala)
c.1280A>C (p.Glu427Ala)
c.8370+124072T>G (n.8370+124072T>G)
2g.108897119C>ACA348048149EDAR,RANBP2c.1135G>T (p.Glu379Ter)
c.1231G>T (p.Glu411Ter)
c.1282G>T (p.Glu428Ter)
c.1186G>T (p.Glu396Ter)
c.562G>T (p.Glu188Ter)
c.1375G>T (p.Glu459Ter)
c.1279G>T (p.Glu427Ter)
c.8370+124073C>A (n.8370+124073C>A)
2g.108897119C=CA1278354284EDAR,RANBP2c.1135G= (p.Glu379=)
c.1231G= (p.Glu411=)
c.1282G= (p.Glu428=)
c.1186G= (p.Glu396=)
c.562G= (p.Glu188=)
c.1375G= (p.Glu459=)
c.1279G= (p.Glu427=)
c.8370+124073C= (n.8370+124073C=)
2g.108897119C>GCA348048150EDAR,RANBP2c.1135G>C (p.Glu379Gln)
c.1231G>C (p.Glu411Gln)
c.1282G>C (p.Glu428Gln)
c.1186G>C (p.Glu396Gln)
c.562G>C (p.Glu188Gln)
c.1375G>C (p.Glu459Gln)
c.1279G>C (p.Glu427Gln)
c.8370+124073C>G (n.8370+124073C>G)
2g.108897119C>TCA1824812EDAR,RANBP2c.1135G>A (p.Glu379Lys)
c.1231G>A (p.Glu411Lys)
c.1282G>A (p.Glu428Lys)
c.1186G>A (p.Glu396Lys)
c.562G>A (p.Glu188Lys)
c.1375G>A (p.Glu459Lys)
c.1279G>A (p.Glu427Lys)
c.8370+124073C>T (n.8370+124073C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897120G>ACA428204147EDAR,RANBP2c.1134C>T (p.Ala378=)
c.1230C>T (p.Ala410=)
c.1281C>T (p.Ala427=)
c.1185C>T (p.Ala395=)
c.561C>T (p.Ala187=)
c.1374C>T (p.Ala458=)
c.1278C>T (p.Ala426=)
c.8370+124074G>A (n.8370+124074G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108897120G>CCA428204146EDAR,RANBP2c.1134C>G (p.Ala378=)
c.1230C>G (p.Ala410=)
c.1281C>G (p.Ala427=)
c.1185C>G (p.Ala395=)
c.561C>G (p.Ala187=)
c.1374C>G (p.Ala458=)
c.1278C>G (p.Ala426=)
c.8370+124074G>C (n.8370+124074G>C)
2g.108897120G=CA1278354285EDAR,RANBP2c.1134C= (p.Ala378=)
c.1230C= (p.Ala410=)
c.1281C= (p.Ala427=)
c.1185C= (p.Ala395=)
c.561C= (p.Ala187=)
c.1374C= (p.Ala458=)
c.1278C= (p.Ala426=)
c.8370+124074G= (n.8370+124074G=)
2g.108897120G>TCA428204145EDAR,RANBP2c.1134C>A (p.Ala378=)
c.1230C>A (p.Ala410=)
c.1281C>A (p.Ala427=)
c.1185C>A (p.Ala395=)
c.561C>A (p.Ala187=)
c.1374C>A (p.Ala458=)
c.1278C>A (p.Ala426=)
c.8370+124074G>T (n.8370+124074G>T)
2g.108897121G>ACA348048151EDAR,RANBP2c.1133C>T (p.Ala378Val)
c.1229C>T (p.Ala410Val)
c.1280C>T (p.Ala427Val)
c.1184C>T (p.Ala395Val)
c.560C>T (p.Ala187Val)
c.1373C>T (p.Ala458Val)
c.1277C>T (p.Ala426Val)
c.8370+124075G>A (n.8370+124075G>A)
 ClinVar dbSNP
2g.108897121G>CCA348048152EDAR,RANBP2c.1133C>G (p.Ala378Gly)
c.1229C>G (p.Ala410Gly)
c.1280C>G (p.Ala427Gly)
c.1184C>G (p.Ala395Gly)
c.560C>G (p.Ala187Gly)
c.1373C>G (p.Ala458Gly)
c.1277C>G (p.Ala426Gly)
c.8370+124075G>C (n.8370+124075G>C)
2g.108897121G>TCA348048153EDAR,RANBP2c.1133C>A (p.Ala378Asp)
c.1229C>A (p.Ala410Asp)
c.1280C>A (p.Ala427Asp)
c.1184C>A (p.Ala395Asp)
c.560C>A (p.Ala187Asp)
c.1373C>A (p.Ala458Asp)
c.1277C>A (p.Ala426Asp)
c.8370+124075G>T (n.8370+124075G>T)
2g.108897122C>ACA348048156EDAR,RANBP2c.1132G>T (p.Ala378Ser)
c.1228G>T (p.Ala410Ser)
c.1279G>T (p.Ala427Ser)
c.1183G>T (p.Ala395Ser)
c.559G>T (p.Ala187Ser)
c.1372G>T (p.Ala458Ser)
c.1276G>T (p.Ala426Ser)
c.8370+124076C>A (n.8370+124076C>A)
2g.108897122C=CA1278354286EDAR,RANBP2c.1132G= (p.Ala378=)
c.1228G= (p.Ala410=)
c.1279G= (p.Ala427=)
c.1183G= (p.Ala395=)
c.559G= (p.Ala187=)
c.1372G= (p.Ala458=)
c.1276G= (p.Ala426=)
c.8370+124076C= (n.8370+124076C=)
2g.108897122C>GCA348048155EDAR,RANBP2c.1132G>C (p.Ala378Pro)
c.1228G>C (p.Ala410Pro)
c.1279G>C (p.Ala427Pro)
c.1183G>C (p.Ala395Pro)
c.559G>C (p.Ala187Pro)
c.1372G>C (p.Ala458Pro)
c.1276G>C (p.Ala426Pro)
c.8370+124076C>G (n.8370+124076C>G)
2g.108897122C>TCA348048154EDAR,RANBP2c.1132G>A (p.Ala378Thr)
c.1228G>A (p.Ala410Thr)
c.1279G>A (p.Ala427Thr)
c.1183G>A (p.Ala395Thr)
c.559G>A (p.Ala187Thr)
c.1372G>A (p.Ala458Thr)
c.1276G>A (p.Ala426Thr)
c.8370+124076C>T (n.8370+124076C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897123G>ACA1824813EDAR,RANBP2c.1131C>T (p.Leu377=)
c.1227C>T (p.Leu409=)
c.1278C>T (p.Leu426=)
c.1182C>T (p.Leu394=)
c.558C>T (p.Leu186=)
c.1371C>T (p.Leu457=)
c.1275C>T (p.Leu425=)
c.8370+124077G>A (n.8370+124077G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108897123G>CCA428204149EDAR,RANBP2c.1131C>G (p.Leu377=)
c.1227C>G (p.Leu409=)
c.1278C>G (p.Leu426=)
c.1182C>G (p.Leu394=)
c.558C>G (p.Leu186=)
c.1371C>G (p.Leu457=)
c.1275C>G (p.Leu425=)
c.8370+124077G>C (n.8370+124077G>C)
2g.108897123G=CA1278354287EDAR,RANBP2c.1131C= (p.Leu377=)
c.1227C= (p.Leu409=)
c.1278C= (p.Leu426=)
c.1182C= (p.Leu394=)
c.558C= (p.Leu186=)
c.1371C= (p.Leu457=)
c.1275C= (p.Leu425=)
c.8370+124077G= (n.8370+124077G=)
2g.108897123G>TCA428204148EDAR,RANBP2c.1131C>A (p.Leu377=)
c.1227C>A (p.Leu409=)
c.1278C>A (p.Leu426=)
c.1182C>A (p.Leu394=)
c.558C>A (p.Leu186=)
c.1371C>A (p.Leu457=)
c.1275C>A (p.Leu425=)
c.8370+124077G>T (n.8370+124077G>T)
 dbSNP
2g.108897124A=CA1278354288EDAR,RANBP2c.1130T= (p.Leu377=)
c.1226T= (p.Leu409=)
c.1277T= (p.Leu426=)
c.1181T= (p.Leu394=)
c.557T= (p.Leu186=)
c.1370T= (p.Leu457=)
c.1274T= (p.Leu425=)
c.8370+124078A= (n.8370+124078A=)
2g.108897124A>CCA348048157EDAR,RANBP2c.1130T>G (p.Leu377Arg)
c.1226T>G (p.Leu409Arg)
c.1277T>G (p.Leu426Arg)
c.1181T>G (p.Leu394Arg)
c.557T>G (p.Leu186Arg)
c.1370T>G (p.Leu457Arg)
c.1274T>G (p.Leu425Arg)
c.8370+124078A>C (n.8370+124078A>C)
2g.108897124A>GCA348048159EDAR,RANBP2c.1130T>C (p.Leu377Pro)
c.1226T>C (p.Leu409Pro)
c.1277T>C (p.Leu426Pro)
c.1181T>C (p.Leu394Pro)
c.557T>C (p.Leu186Pro)
c.1370T>C (p.Leu457Pro)
c.1274T>C (p.Leu425Pro)
c.8370+124078A>G (n.8370+124078A>G)
 ClinVar dbSNP
2g.108897124A>TCA348048158EDAR,RANBP2c.1130T>A (p.Leu377His)
c.1226T>A (p.Leu409His)
c.1277T>A (p.Leu426His)
c.1181T>A (p.Leu394His)
c.557T>A (p.Leu186His)
c.1370T>A (p.Leu457His)
c.1274T>A (p.Leu425His)
c.8370+124078A>T (n.8370+124078A>T)
2g.108897125G>ACA348048160EDAR,RANBP2c.1129C>T (p.Leu377Phe)
c.1225C>T (p.Leu409Phe)
c.1276C>T (p.Leu426Phe)
c.1180C>T (p.Leu394Phe)
c.556C>T (p.Leu186Phe)
c.1369C>T (p.Leu457Phe)
c.1273C>T (p.Leu425Phe)
c.8370+124079G>A (n.8370+124079G>A)
2g.108897125G>CCA348048162EDAR,RANBP2c.1129C>G (p.Leu377Val)
c.1225C>G (p.Leu409Val)
c.1276C>G (p.Leu426Val)
c.1180C>G (p.Leu394Val)
c.556C>G (p.Leu186Val)
c.1369C>G (p.Leu457Val)
c.1273C>G (p.Leu425Val)
c.8370+124079G>C (n.8370+124079G>C)
2g.108897125G>TCA348048161EDAR,RANBP2c.1129C>A (p.Leu377Ile)
c.1225C>A (p.Leu409Ile)
c.1276C>A (p.Leu426Ile)
c.1180C>A (p.Leu394Ile)
c.556C>A (p.Leu186Ile)
c.1369C>A (p.Leu457Ile)
c.1273C>A (p.Leu425Ile)
c.8370+124079G>T (n.8370+124079G>T)
2g.108897126G>ACA428204150EDAR,RANBP2c.1128C>T (p.His376=)
c.1224C>T (p.His408=)
c.1275C>T (p.His425=)
c.1179C>T (p.His393=)
c.555C>T (p.His185=)
c.1368C>T (p.His456=)
c.1272C>T (p.His424=)
c.8370+124080G>A (n.8370+124080G>A)
 ClinVar
2g.108897126G>CCA348048163EDAR,RANBP2c.1128C>G (p.His376Gln)
c.1224C>G (p.His408Gln)
c.1275C>G (p.His425Gln)
c.1179C>G (p.His393Gln)
c.555C>G (p.His185Gln)
c.1368C>G (p.His456Gln)
c.1272C>G (p.His424Gln)
c.8370+124080G>C (n.8370+124080G>C)
2g.108897126G>TCA348048164EDAR,RANBP2c.1128C>A (p.His376Gln)
c.1224C>A (p.His408Gln)
c.1275C>A (p.His425Gln)
c.1179C>A (p.His393Gln)
c.555C>A (p.His185Gln)
c.1368C>A (p.His456Gln)
c.1272C>A (p.His424Gln)
c.8370+124080G>T (n.8370+124080G>T)
2g.108897127T>ACA348048165EDAR,RANBP2c.1127A>T (p.His376Leu)
c.1223A>T (p.His408Leu)
c.1274A>T (p.His425Leu)
c.1178A>T (p.His393Leu)
c.554A>T (p.His185Leu)
c.1367A>T (p.His456Leu)
c.1271A>T (p.His424Leu)
c.8370+124081T>A (n.8370+124081T>A)
2g.108897127T>CCA348048166EDAR,RANBP2c.1127A>G (p.His376Arg)
c.1223A>G (p.His408Arg)
c.1274A>G (p.His425Arg)
c.1178A>G (p.His393Arg)
c.554A>G (p.His185Arg)
c.1367A>G (p.His456Arg)
c.1271A>G (p.His424Arg)
c.8370+124081T>C (n.8370+124081T>C)
2g.108897127T>GCA348048167EDAR,RANBP2c.1127A>C (p.His376Pro)
c.1223A>C (p.His408Pro)
c.1274A>C (p.His425Pro)
c.1178A>C (p.His393Pro)
c.554A>C (p.His185Pro)
c.1367A>C (p.His456Pro)
c.1271A>C (p.His424Pro)
c.8370+124081T>G (n.8370+124081T>G)
 dbSNP
2g.108897127T=CA1278354289EDAR,RANBP2c.1127A= (p.His376=)
c.1223A= (p.His408=)
c.1274A= (p.His425=)
c.1178A= (p.His393=)
c.554A= (p.His185=)
c.1367A= (p.His456=)
c.1271A= (p.His424=)
c.8370+124081T= (n.8370+124081T=)
2g.108897128G>ACA348048168EDAR,RANBP2c.1126C>T (p.His376Tyr)
c.1222C>T (p.His408Tyr)
c.1273C>T (p.His425Tyr)
c.1177C>T (p.His393Tyr)
c.553C>T (p.His185Tyr)
c.1366C>T (p.His456Tyr)
c.1270C>T (p.His424Tyr)
c.8370+124082G>A (n.8370+124082G>A)
2g.108897128G>CCA348048169EDAR,RANBP2c.1126C>G (p.His376Asp)
c.1222C>G (p.His408Asp)
c.1273C>G (p.His425Asp)
c.1177C>G (p.His393Asp)
c.553C>G (p.His185Asp)
c.1366C>G (p.His456Asp)
c.1270C>G (p.His424Asp)
c.8370+124082G>C (n.8370+124082G>C)
2g.108897128G>TCA348048170EDAR,RANBP2c.1126C>A (p.His376Asn)
c.1222C>A (p.His408Asn)
c.1273C>A (p.His425Asn)
c.1177C>A (p.His393Asn)
c.553C>A (p.His185Asn)
c.1366C>A (p.His456Asn)
c.1270C>A (p.His424Asn)
c.8370+124082G>T (n.8370+124082G>T)
2g.108897129G>ACA428204151EDAR,RANBP2c.1125C>T (p.Arg375=)
c.1221C>T (p.Arg407=)
c.1272C>T (p.Arg424=)
c.1176C>T (p.Arg392=)
c.552C>T (p.Arg184=)
c.1365C>T (p.Arg455=)
c.1269C>T (p.Arg423=)
c.8370+124083G>A (n.8370+124083G>A)
2g.108897129G>CCA428204152EDAR,RANBP2c.1125C>G (p.Arg375=)
c.1221C>G (p.Arg407=)
c.1272C>G (p.Arg424=)
c.1176C>G (p.Arg392=)
c.552C>G (p.Arg184=)
c.1365C>G (p.Arg455=)
c.1269C>G (p.Arg423=)
c.8370+124083G>C (n.8370+124083G>C)
2g.108897129G>TCA428204153EDAR,RANBP2c.1125C>A (p.Arg375=)
c.1221C>A (p.Arg407=)
c.1272C>A (p.Arg424=)
c.1176C>A (p.Arg392=)
c.552C>A (p.Arg184=)
c.1365C>A (p.Arg455=)
c.1269C>A (p.Arg423=)
c.8370+124083G>T (n.8370+124083G>T)
2g.108897130C>ACA348048172EDAR,RANBP2c.1124G>T (p.Arg375Leu)
c.1220G>T (p.Arg407Leu)
c.1271G>T (p.Arg424Leu)
c.1175G>T (p.Arg392Leu)
c.551G>T (p.Arg184Leu)
c.1364G>T (p.Arg455Leu)
c.1268G>T (p.Arg423Leu)
c.8370+124084C>A (n.8370+124084C>A)
2g.108897130C=CA1278354290EDAR,RANBP2c.1124G= (p.Arg375=)
c.1220G= (p.Arg407=)
c.1271G= (p.Arg424=)
c.1175G= (p.Arg392=)
c.551G= (p.Arg184=)
c.1364G= (p.Arg455=)
c.1268G= (p.Arg423=)
c.8370+124084C= (n.8370+124084C=)
2g.108897130C>GCA348048171EDAR,RANBP2c.1124G>C (p.Arg375Pro)
c.1220G>C (p.Arg407Pro)
c.1271G>C (p.Arg424Pro)
c.1175G>C (p.Arg392Pro)
c.551G>C (p.Arg184Pro)
c.1364G>C (p.Arg455Pro)
c.1268G>C (p.Arg423Pro)
c.8370+124084C>G (n.8370+124084C>G)
 gnomAD v4

Number of alleles fetched