Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897065G>ACA348048028EDAR,RANBP2c.1189C>T (p.Leu397Phe)
c.1285C>T (p.Leu429Phe)
c.1336C>T (p.Leu446Phe)
c.1240C>T (p.Leu414Phe)
c.616C>T (p.Leu206Phe)
c.1429C>T (p.Leu477Phe)
c.1333C>T (p.Leu445Phe)
c.8370+124019G>A (n.8370+124019G>A)
2g.108897065G>CCA348048029EDAR,RANBP2c.1189C>G (p.Leu397Val)
c.1285C>G (p.Leu429Val)
c.1336C>G (p.Leu446Val)
c.1240C>G (p.Leu414Val)
c.616C>G (p.Leu206Val)
c.1429C>G (p.Leu477Val)
c.1333C>G (p.Leu445Val)
c.8370+124019G>C (n.8370+124019G>C)
2g.108897065G>TCA348048030EDAR,RANBP2c.1189C>A (p.Leu397Ile)
c.1285C>A (p.Leu429Ile)
c.1336C>A (p.Leu446Ile)
c.1240C>A (p.Leu414Ile)
c.616C>A (p.Leu206Ile)
c.1429C>A (p.Leu477Ile)
c.1333C>A (p.Leu445Ile)
c.8370+124019G>T (n.8370+124019G>T)
2g.108897066_108897068dupCA2586969740EDAR,RANBP2c.1187_1189dup (p.Gln396_Leu397insGln)
c.1283_1285dup (p.Gln428_Leu429insGln)
c.1334_1336dup (p.Gln445_Leu446insGln)
c.1238_1240dup (p.Gln413_Leu414insGln)
c.614_616dup (p.Gln205_Leu206insGln)
c.1427_1429dup (p.Gln476_Leu477insGln)
c.1331_1333dup (p.Gln444_Leu445insGln)
c.8370+124020_8370+124022dup (n.8370+124020_8370+124022dup)
2g.108897066T>ACA348048031EDAR,RANBP2c.1188A>T (p.Gln396His)
c.1284A>T (p.Gln428His)
c.1335A>T (p.Gln445His)
c.1239A>T (p.Gln413His)
c.615A>T (p.Gln205His)
c.1428A>T (p.Gln476His)
c.1332A>T (p.Gln444His)
c.8370+124020T>A (n.8370+124020T>A)
2g.108897066T>CCA428204080EDAR,RANBP2c.1188A>G (p.Gln396=)
c.1284A>G (p.Gln428=)
c.1335A>G (p.Gln445=)
c.1239A>G (p.Gln413=)
c.615A>G (p.Gln205=)
c.1428A>G (p.Gln476=)
c.1332A>G (p.Gln444=)
c.8370+124020T>C (n.8370+124020T>C)
 gnomAD v4
2g.108897066T>GCA348048032EDAR,RANBP2c.1188A>C (p.Gln396His)
c.1284A>C (p.Gln428His)
c.1335A>C (p.Gln445His)
c.1239A>C (p.Gln413His)
c.615A>C (p.Gln205His)
c.1428A>C (p.Gln476His)
c.1332A>C (p.Gln444His)
c.8370+124020T>G (n.8370+124020T>G)
2g.108897067T>ACA348048035EDAR,RANBP2c.1187A>T (p.Gln396Leu)
c.1283A>T (p.Gln428Leu)
c.1334A>T (p.Gln445Leu)
c.1238A>T (p.Gln413Leu)
c.614A>T (p.Gln205Leu)
c.1427A>T (p.Gln476Leu)
c.1331A>T (p.Gln444Leu)
c.8370+124021T>A (n.8370+124021T>A)
2g.108897067T>CCA348048033EDAR,RANBP2c.1187A>G (p.Gln396Arg)
c.1283A>G (p.Gln428Arg)
c.1334A>G (p.Gln445Arg)
c.1238A>G (p.Gln413Arg)
c.614A>G (p.Gln205Arg)
c.1427A>G (p.Gln476Arg)
c.1331A>G (p.Gln444Arg)
c.8370+124021T>C (n.8370+124021T>C)
2g.108897067T>GCA348048034EDAR,RANBP2c.1187A>C (p.Gln396Pro)
c.1283A>C (p.Gln428Pro)
c.1334A>C (p.Gln445Pro)
c.1238A>C (p.Gln413Pro)
c.614A>C (p.Gln205Pro)
c.1427A>C (p.Gln476Pro)
c.1331A>C (p.Gln444Pro)
c.8370+124021T>G (n.8370+124021T>G)
2g.108897068G>ACA348048036EDAR,RANBP2c.1186C>T (p.Gln396Ter)
c.1282C>T (p.Gln428Ter)
c.1333C>T (p.Gln445Ter)
c.1237C>T (p.Gln413Ter)
c.613C>T (p.Gln205Ter)
c.1426C>T (p.Gln476Ter)
c.1330C>T (p.Gln444Ter)
c.8370+124022G>A (n.8370+124022G>A)
2g.108897068G>CCA348048037EDAR,RANBP2c.1186C>G (p.Gln396Glu)
c.1282C>G (p.Gln428Glu)
c.1333C>G (p.Gln445Glu)
c.1237C>G (p.Gln413Glu)
c.613C>G (p.Gln205Glu)
c.1426C>G (p.Gln476Glu)
c.1330C>G (p.Gln444Glu)
c.8370+124022G>C (n.8370+124022G>C)
 gnomAD v4
2g.108897068G>TCA348048038EDAR,RANBP2c.1186C>A (p.Gln396Lys)
c.1282C>A (p.Gln428Lys)
c.1333C>A (p.Gln445Lys)
c.1237C>A (p.Gln413Lys)
c.613C>A (p.Gln205Lys)
c.1426C>A (p.Gln476Lys)
c.1330C>A (p.Gln444Lys)
c.8370+124022G>T (n.8370+124022G>T)
 dbSNP
2g.108897069C>ACA348048039EDAR,RANBP2c.1185G>T (p.Met395Ile)
c.1281G>T (p.Met427Ile)
c.1332G>T (p.Met444Ile)
c.1236G>T (p.Met412Ile)
c.612G>T (p.Met204Ile)
c.1425G>T (p.Met475Ile)
c.1329G>T (p.Met443Ile)
c.8370+124023C>A (n.8370+124023C>A)
2g.108897069C>GCA348048040EDAR,RANBP2c.1185G>C (p.Met395Ile)
c.1281G>C (p.Met427Ile)
c.1332G>C (p.Met444Ile)
c.1236G>C (p.Met412Ile)
c.612G>C (p.Met204Ile)
c.1425G>C (p.Met475Ile)
c.1329G>C (p.Met443Ile)
c.8370+124023C>G (n.8370+124023C>G)
2g.108897069C>TCA348048041EDAR,RANBP2c.1185G>A (p.Met395Ile)
c.1281G>A (p.Met427Ile)
c.1332G>A (p.Met444Ile)
c.1236G>A (p.Met412Ile)
c.612G>A (p.Met204Ile)
c.1425G>A (p.Met475Ile)
c.1329G>A (p.Met443Ile)
c.8370+124023C>T (n.8370+124023C>T)
2g.108897075_108897086delCA2740095682EDAR,RANBP2c.1174_1185del (p.Thr392_Met395del)
c.1270_1281del (p.Thr424_Met427del)
c.1321_1332del (p.Thr441_Met444del)
c.1225_1236del (p.Thr409_Met412del)
c.601_612del (p.Thr201_Met204del)
c.1414_1425del (p.Thr472_Met475del)
c.1318_1329del (p.Thr440_Met443del)
c.8370+124029_8370+124040del (n.8370+124029_8370+124040del)
 ClinVar
2g.108897070A>CCA348048043EDAR,RANBP2c.1184T>G (p.Met395Arg)
c.1280T>G (p.Met427Arg)
c.1331T>G (p.Met444Arg)
c.1235T>G (p.Met412Arg)
c.611T>G (p.Met204Arg)
c.1424T>G (p.Met475Arg)
c.1328T>G (p.Met443Arg)
c.8370+124024A>C (n.8370+124024A>C)
2g.108897070A>GCA348048044EDAR,RANBP2c.1184T>C (p.Met395Thr)
c.1280T>C (p.Met427Thr)
c.1331T>C (p.Met444Thr)
c.1235T>C (p.Met412Thr)
c.611T>C (p.Met204Thr)
c.1424T>C (p.Met475Thr)
c.1328T>C (p.Met443Thr)
c.8370+124024A>G (n.8370+124024A>G)
 gnomAD v4
2g.108897070A>TCA348048042EDAR,RANBP2c.1184T>A (p.Met395Lys)
c.1280T>A (p.Met427Lys)
c.1331T>A (p.Met444Lys)
c.1235T>A (p.Met412Lys)
c.611T>A (p.Met204Lys)
c.1424T>A (p.Met475Lys)
c.1328T>A (p.Met443Lys)
c.8370+124024A>T (n.8370+124024A>T)
2g.108897071T>ACA348048045EDAR,RANBP2c.1183A>T (p.Met395Leu)
c.1279A>T (p.Met427Leu)
c.1330A>T (p.Met444Leu)
c.1234A>T (p.Met412Leu)
c.610A>T (p.Met204Leu)
c.1423A>T (p.Met475Leu)
c.1327A>T (p.Met443Leu)
c.8370+124025T>A (n.8370+124025T>A)
2g.108897071T>CCA10610572EDAR,RANBP2c.1183A>G (p.Met395Val)
c.1279A>G (p.Met427Val)
c.1330A>G (p.Met444Val)
c.1234A>G (p.Met412Val)
c.610A>G (p.Met204Val)
c.1423A>G (p.Met475Val)
c.1327A>G (p.Met443Val)
c.8370+124025T>C (n.8370+124025T>C)
 ClinVar dbSNP gnomAD v4
2g.108897071T>GCA348048046EDAR,RANBP2c.1183A>C (p.Met395Leu)
c.1279A>C (p.Met427Leu)
c.1330A>C (p.Met444Leu)
c.1234A>C (p.Met412Leu)
c.610A>C (p.Met204Leu)
c.1423A>C (p.Met475Leu)
c.1327A>C (p.Met443Leu)
c.8370+124025T>G (n.8370+124025T>G)
2g.108897071T=CA1278354258EDAR,RANBP2c.1183A= (p.Met395=)
c.1279A= (p.Met427=)
c.1330A= (p.Met444=)
c.1234A= (p.Met412=)
c.610A= (p.Met204=)
c.1423A= (p.Met475=)
c.1327A= (p.Met443=)
c.8370+124025T= (n.8370+124025T=)
2g.108897072G>ACA428204089EDAR,RANBP2c.1182C>T (p.Gly394=)
c.1278C>T (p.Gly426=)
c.1329C>T (p.Gly443=)
c.1233C>T (p.Gly411=)
c.609C>T (p.Gly203=)
c.1422C>T (p.Gly474=)
c.1326C>T (p.Gly442=)
c.8370+124026G>A (n.8370+124026G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108897072G>CCA428204090EDAR,RANBP2c.1182C>G (p.Gly394=)
c.1278C>G (p.Gly426=)
c.1329C>G (p.Gly443=)
c.1233C>G (p.Gly411=)
c.609C>G (p.Gly203=)
c.1422C>G (p.Gly474=)
c.1326C>G (p.Gly442=)
c.8370+124026G>C (n.8370+124026G>C)
2g.108897072G=CA1278354259EDAR,RANBP2c.1182C= (p.Gly394=)
c.1278C= (p.Gly426=)
c.1329C= (p.Gly443=)
c.1233C= (p.Gly411=)
c.609C= (p.Gly203=)
c.1422C= (p.Gly474=)
c.1326C= (p.Gly442=)
c.8370+124026G= (n.8370+124026G=)
2g.108897072G>TCA428204095EDAR,RANBP2c.1182C>A (p.Gly394=)
c.1278C>A (p.Gly426=)
c.1329C>A (p.Gly443=)
c.1233C>A (p.Gly411=)
c.609C>A (p.Gly203=)
c.1422C>A (p.Gly474=)
c.1326C>A (p.Gly442=)
c.8370+124026G>T (n.8370+124026G>T)
2g.108897073C>ACA348048047EDAR,RANBP2c.1181G>T (p.Gly394Val)
c.1277G>T (p.Gly426Val)
c.1328G>T (p.Gly443Val)
c.1232G>T (p.Gly411Val)
c.608G>T (p.Gly203Val)
c.1421G>T (p.Gly474Val)
c.1325G>T (p.Gly442Val)
c.8370+124027C>A (n.8370+124027C>A)
2g.108897073C>GCA348048049EDAR,RANBP2c.1181G>C (p.Gly394Ala)
c.1277G>C (p.Gly426Ala)
c.1328G>C (p.Gly443Ala)
c.1232G>C (p.Gly411Ala)
c.608G>C (p.Gly203Ala)
c.1421G>C (p.Gly474Ala)
c.1325G>C (p.Gly442Ala)
c.8370+124027C>G (n.8370+124027C>G)
2g.108897073C>TCA348048048EDAR,RANBP2c.1181G>A (p.Gly394Asp)
c.1277G>A (p.Gly426Asp)
c.1328G>A (p.Gly443Asp)
c.1232G>A (p.Gly411Asp)
c.608G>A (p.Gly203Asp)
c.1421G>A (p.Gly474Asp)
c.1325G>A (p.Gly442Asp)
c.8370+124027C>T (n.8370+124027C>T)
 gnomAD v4
2g.108897074C>ACA348048050EDAR,RANBP2c.1180G>T (p.Gly394Cys)
c.1276G>T (p.Gly426Cys)
c.1327G>T (p.Gly443Cys)
c.1231G>T (p.Gly411Cys)
c.607G>T (p.Gly203Cys)
c.1420G>T (p.Gly474Cys)
c.1324G>T (p.Gly442Cys)
c.8370+124028C>A (n.8370+124028C>A)
2g.108897074C=CA1278354260EDAR,RANBP2c.1180G= (p.Gly394=)
c.1276G= (p.Gly426=)
c.1327G= (p.Gly443=)
c.1231G= (p.Gly411=)
c.607G= (p.Gly203=)
c.1420G= (p.Gly474=)
c.1324G= (p.Gly442=)
c.8370+124028C= (n.8370+124028C=)
2g.108897074C>GCA348048051EDAR,RANBP2c.1180G>C (p.Gly394Arg)
c.1276G>C (p.Gly426Arg)
c.1327G>C (p.Gly443Arg)
c.1231G>C (p.Gly411Arg)
c.607G>C (p.Gly203Arg)
c.1420G>C (p.Gly474Arg)
c.1324G>C (p.Gly442Arg)
c.8370+124028C>G (n.8370+124028C>G)
2g.108897074C>TCA1824803EDAR,RANBP2c.1180G>A (p.Gly394Ser)
c.1276G>A (p.Gly426Ser)
c.1327G>A (p.Gly443Ser)
c.1231G>A (p.Gly411Ser)
c.607G>A (p.Gly203Ser)
c.1420G>A (p.Gly474Ser)
c.1324G>A (p.Gly442Ser)
c.8370+124028C>T (n.8370+124028C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897075G>ACA1824804EDAR,RANBP2c.1179C>T (p.Asp393=)
c.1275C>T (p.Asp425=)
c.1326C>T (p.Asp442=)
c.1230C>T (p.Asp410=)
c.606C>T (p.Asp202=)
c.1419C>T (p.Asp473=)
c.1323C>T (p.Asp441=)
c.8370+124029G>A (n.8370+124029G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897075G>CCA348048052EDAR,RANBP2c.1179C>G (p.Asp393Glu)
c.1275C>G (p.Asp425Glu)
c.1326C>G (p.Asp442Glu)
c.1230C>G (p.Asp410Glu)
c.606C>G (p.Asp202Glu)
c.1419C>G (p.Asp473Glu)
c.1323C>G (p.Asp441Glu)
c.8370+124029G>C (n.8370+124029G>C)
2g.108897075G=CA1278354261EDAR,RANBP2c.1179C= (p.Asp393=)
c.1275C= (p.Asp425=)
c.1326C= (p.Asp442=)
c.1230C= (p.Asp410=)
c.606C= (p.Asp202=)
c.1419C= (p.Asp473=)
c.1323C= (p.Asp441=)
c.8370+124029G= (n.8370+124029G=)
2g.108897075G>TCA348048053EDAR,RANBP2c.1179C>A (p.Asp393Glu)
c.1275C>A (p.Asp425Glu)
c.1326C>A (p.Asp442Glu)
c.1230C>A (p.Asp410Glu)
c.606C>A (p.Asp202Glu)
c.1419C>A (p.Asp473Glu)
c.1323C>A (p.Asp441Glu)
c.8370+124029G>T (n.8370+124029G>T)
 gnomAD v4
2g.108897076T>ACA348048054EDAR,RANBP2c.1178A>T (p.Asp393Val)
c.1274A>T (p.Asp425Val)
c.1325A>T (p.Asp442Val)
c.1229A>T (p.Asp410Val)
c.605A>T (p.Asp202Val)
c.1418A>T (p.Asp473Val)
c.1322A>T (p.Asp441Val)
c.8370+124030T>A (n.8370+124030T>A)
2g.108897076T>CCA348048055EDAR,RANBP2c.1178A>G (p.Asp393Gly)
c.1274A>G (p.Asp425Gly)
c.1325A>G (p.Asp442Gly)
c.1229A>G (p.Asp410Gly)
c.605A>G (p.Asp202Gly)
c.1418A>G (p.Asp473Gly)
c.1322A>G (p.Asp441Gly)
c.8370+124030T>C (n.8370+124030T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108897076T>GCA348048056EDAR,RANBP2c.1178A>C (p.Asp393Ala)
c.1274A>C (p.Asp425Ala)
c.1325A>C (p.Asp442Ala)
c.1229A>C (p.Asp410Ala)
c.605A>C (p.Asp202Ala)
c.1418A>C (p.Asp473Ala)
c.1322A>C (p.Asp441Ala)
c.8370+124030T>G (n.8370+124030T>G)
2g.108897076T=CA1278354262EDAR,RANBP2c.1178A= (p.Asp393=)
c.1274A= (p.Asp425=)
c.1325A= (p.Asp442=)
c.1229A= (p.Asp410=)
c.605A= (p.Asp202=)
c.1418A= (p.Asp473=)
c.1322A= (p.Asp441=)
c.8370+124030T= (n.8370+124030T=)
2g.108897077_108897078dupCA2577065494EDAR,RANBP2c.1177_1178dup (p.Asp393GlufsTer?)
c.1273_1274dup (p.Asp425GlufsTer?)
c.1324_1325dup (p.Asp442GlufsTer?)
c.1228_1229dup (p.Asp410GlufsTer?)
c.604_605dup (p.Asp202GlufsTer?)
c.1417_1418dup (p.Asp473GlufsTer?)
c.1321_1322dup (p.Asp441GlufsTer?)
c.8370+124031_8370+124032dup (n.8370+124031_8370+124032dup)
2g.108897077C>ACA348048057EDAR,RANBP2c.1177G>T (p.Asp393Tyr)
c.1273G>T (p.Asp425Tyr)
c.1324G>T (p.Asp442Tyr)
c.1228G>T (p.Asp410Tyr)
c.604G>T (p.Asp202Tyr)
c.1417G>T (p.Asp473Tyr)
c.1321G>T (p.Asp441Tyr)
c.8370+124031C>A (n.8370+124031C>A)
2g.108897077C>GCA348048058EDAR,RANBP2c.1177G>C (p.Asp393His)
c.1273G>C (p.Asp425His)
c.1324G>C (p.Asp442His)
c.1228G>C (p.Asp410His)
c.604G>C (p.Asp202His)
c.1417G>C (p.Asp473His)
c.1321G>C (p.Asp441His)
c.8370+124031C>G (n.8370+124031C>G)
2g.108897077C>TCA348048059EDAR,RANBP2c.1177G>A (p.Asp393Asn)
c.1273G>A (p.Asp425Asn)
c.1324G>A (p.Asp442Asn)
c.1228G>A (p.Asp410Asn)
c.604G>A (p.Asp202Asn)
c.1417G>A (p.Asp473Asn)
c.1321G>A (p.Asp441Asn)
c.8370+124031C>T (n.8370+124031C>T)
2g.108897078T>ACA428204109EDAR,RANBP2c.1176A>T (p.Thr392=)
c.1272A>T (p.Thr424=)
c.1323A>T (p.Thr441=)
c.1227A>T (p.Thr409=)
c.603A>T (p.Thr201=)
c.1416A>T (p.Thr472=)
c.1320A>T (p.Thr440=)
c.8370+124032T>A (n.8370+124032T>A)
2g.108897078T>CCA428204110EDAR,RANBP2c.1176A>G (p.Thr392=)
c.1272A>G (p.Thr424=)
c.1323A>G (p.Thr441=)
c.1227A>G (p.Thr409=)
c.603A>G (p.Thr201=)
c.1416A>G (p.Thr472=)
c.1320A>G (p.Thr440=)
c.8370+124032T>C (n.8370+124032T>C)
2g.108897078T>GCA428204111EDAR,RANBP2c.1176A>C (p.Thr392=)
c.1272A>C (p.Thr424=)
c.1323A>C (p.Thr441=)
c.1227A>C (p.Thr409=)
c.603A>C (p.Thr201=)
c.1416A>C (p.Thr472=)
c.1320A>C (p.Thr440=)
c.8370+124032T>G (n.8370+124032T>G)

Number of alleles fetched