Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897004_108897006delCA1278354235EDAR,RANBP2c.1249_1251del (p.Gln417del)
c.1345_1347del (p.Gln449del)
c.1396_1398del (p.Gln466del)
c.1300_1302del (p.Gln434del)
c.676_678del (p.Gln226del)
c.1489_1491del (p.Gln497del)
c.1393_1395del (p.Gln465del)
c.8370+123958_8370+123960del (n.8370+123958_8370+123960del)
 dbSNP
2g.108897006C>ACA428203946EDAR,RANBP2c.1248G>T (p.Val416=)
c.1344G>T (p.Val448=)
c.1395G>T (p.Val465=)
c.1299G>T (p.Val433=)
c.675G>T (p.Val225=)
c.1488G>T (p.Val496=)
c.1392G>T (p.Val464=)
c.8370+123960C>A (n.8370+123960C>A)
2g.108897006C>GCA428203945EDAR,RANBP2c.1248G>C (p.Val416=)
c.1344G>C (p.Val448=)
c.1395G>C (p.Val465=)
c.1299G>C (p.Val433=)
c.675G>C (p.Val225=)
c.1488G>C (p.Val496=)
c.1392G>C (p.Val464=)
c.8370+123960C>G (n.8370+123960C>G)
2g.108897006C>TCA428203944EDAR,RANBP2c.1248G>A (p.Val416=)
c.1344G>A (p.Val448=)
c.1395G>A (p.Val465=)
c.1299G>A (p.Val433=)
c.675G>A (p.Val225=)
c.1488G>A (p.Val496=)
c.1392G>A (p.Val464=)
c.8370+123960C>T (n.8370+123960C>T)
2g.108897007A>CCA348047801EDAR,RANBP2c.1247T>G (p.Val416Gly)
c.1343T>G (p.Val448Gly)
c.1394T>G (p.Val465Gly)
c.1298T>G (p.Val433Gly)
c.674T>G (p.Val225Gly)
c.1487T>G (p.Val496Gly)
c.1391T>G (p.Val464Gly)
c.8370+123961A>C (n.8370+123961A>C)
2g.108897007A>GCA348047804EDAR,RANBP2c.1247T>C (p.Val416Ala)
c.1343T>C (p.Val448Ala)
c.1394T>C (p.Val465Ala)
c.1298T>C (p.Val433Ala)
c.674T>C (p.Val225Ala)
c.1487T>C (p.Val496Ala)
c.1391T>C (p.Val464Ala)
c.8370+123961A>G (n.8370+123961A>G)
2g.108897007A>TCA348047805EDAR,RANBP2c.1247T>A (p.Val416Glu)
c.1343T>A (p.Val448Glu)
c.1394T>A (p.Val465Glu)
c.1298T>A (p.Val433Glu)
c.674T>A (p.Val225Glu)
c.1487T>A (p.Val496Glu)
c.1391T>A (p.Val464Glu)
c.8370+123961A>T (n.8370+123961A>T)
2g.108897008C>ACA348047808EDAR,RANBP2c.1246G>T (p.Val416Leu)
c.1342G>T (p.Val448Leu)
c.1393G>T (p.Val465Leu)
c.1297G>T (p.Val433Leu)
c.673G>T (p.Val225Leu)
c.1486G>T (p.Val496Leu)
c.1390G>T (p.Val464Leu)
c.8370+123962C>A (n.8370+123962C>A)
2g.108897008C=CA1278354237EDAR,RANBP2c.1246G= (p.Val416=)
c.1342G= (p.Val448=)
c.1393G= (p.Val465=)
c.1297G= (p.Val433=)
c.673G= (p.Val225=)
c.1486G= (p.Val496=)
c.1390G= (p.Val464=)
c.8370+123962C= (n.8370+123962C=)
2g.108897008C>GCA348047809EDAR,RANBP2c.1246G>C (p.Val416Leu)
c.1342G>C (p.Val448Leu)
c.1393G>C (p.Val465Leu)
c.1297G>C (p.Val433Leu)
c.673G>C (p.Val225Leu)
c.1486G>C (p.Val496Leu)
c.1390G>C (p.Val464Leu)
c.8370+123962C>G (n.8370+123962C>G)
2g.108897008C>TCA1824797EDAR,RANBP2c.1246G>A (p.Val416Met)
c.1342G>A (p.Val448Met)
c.1393G>A (p.Val465Met)
c.1297G>A (p.Val433Met)
c.673G>A (p.Val225Met)
c.1486G>A (p.Val496Met)
c.1390G>A (p.Val464Met)
c.8370+123962C>T (n.8370+123962C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108897009C>ACA428203950EDAR,RANBP2c.1245G>T (p.Leu415=)
c.1341G>T (p.Leu447=)
c.1392G>T (p.Leu464=)
c.1296G>T (p.Leu432=)
c.672G>T (p.Leu224=)
c.1485G>T (p.Leu495=)
c.1389G>T (p.Leu463=)
c.8370+123963C>A (n.8370+123963C>A)
2g.108897009C>GCA428203951EDAR,RANBP2c.1245G>C (p.Leu415=)
c.1341G>C (p.Leu447=)
c.1392G>C (p.Leu464=)
c.1296G>C (p.Leu432=)
c.672G>C (p.Leu224=)
c.1485G>C (p.Leu495=)
c.1389G>C (p.Leu463=)
c.8370+123963C>G (n.8370+123963C>G)
2g.108897009C>TCA428203952EDAR,RANBP2c.1245G>A (p.Leu415=)
c.1341G>A (p.Leu447=)
c.1392G>A (p.Leu464=)
c.1296G>A (p.Leu432=)
c.672G>A (p.Leu224=)
c.1485G>A (p.Leu495=)
c.1389G>A (p.Leu463=)
c.8370+123963C>T (n.8370+123963C>T)
2g.108897010A>CCA348047813EDAR,RANBP2c.1244T>G (p.Leu415Arg)
c.1340T>G (p.Leu447Arg)
c.1391T>G (p.Leu464Arg)
c.1295T>G (p.Leu432Arg)
c.671T>G (p.Leu224Arg)
c.1484T>G (p.Leu495Arg)
c.1388T>G (p.Leu463Arg)
c.8370+123964A>C (n.8370+123964A>C)
2g.108897010A>GCA348047817EDAR,RANBP2c.1244T>C (p.Leu415Pro)
c.1340T>C (p.Leu447Pro)
c.1391T>C (p.Leu464Pro)
c.1295T>C (p.Leu432Pro)
c.671T>C (p.Leu224Pro)
c.1484T>C (p.Leu495Pro)
c.1388T>C (p.Leu463Pro)
c.8370+123964A>G (n.8370+123964A>G)
2g.108897010A>TCA348047815EDAR,RANBP2c.1244T>A (p.Leu415Gln)
c.1340T>A (p.Leu447Gln)
c.1391T>A (p.Leu464Gln)
c.1295T>A (p.Leu432Gln)
c.671T>A (p.Leu224Gln)
c.1484T>A (p.Leu495Gln)
c.1388T>A (p.Leu463Gln)
c.8370+123964A>T (n.8370+123964A>T)
2g.108897011G>ACA428203956EDAR,RANBP2c.1243C>T (p.Leu415=)
c.1339C>T (p.Leu447=)
c.1390C>T (p.Leu464=)
c.1294C>T (p.Leu432=)
c.670C>T (p.Leu224=)
c.1483C>T (p.Leu495=)
c.1387C>T (p.Leu463=)
c.8370+123965G>A (n.8370+123965G>A)
2g.108897011G>CCA348047819EDAR,RANBP2c.1243C>G (p.Leu415Val)
c.1339C>G (p.Leu447Val)
c.1390C>G (p.Leu464Val)
c.1294C>G (p.Leu432Val)
c.670C>G (p.Leu224Val)
c.1483C>G (p.Leu495Val)
c.1387C>G (p.Leu463Val)
c.8370+123965G>C (n.8370+123965G>C)
2g.108897011G>TCA348047821EDAR,RANBP2c.1243C>A (p.Leu415Met)
c.1339C>A (p.Leu447Met)
c.1390C>A (p.Leu464Met)
c.1294C>A (p.Leu432Met)
c.670C>A (p.Leu224Met)
c.1483C>A (p.Leu495Met)
c.1387C>A (p.Leu463Met)
c.8370+123965G>T (n.8370+123965G>T)
2g.108897012T>ACA348047822EDAR,RANBP2c.1242A>T (p.Lys414Asn)
c.1338A>T (p.Lys446Asn)
c.1389A>T (p.Lys463Asn)
c.1293A>T (p.Lys431Asn)
c.669A>T (p.Lys223Asn)
c.1482A>T (p.Lys494Asn)
c.1386A>T (p.Lys462Asn)
c.8370+123966T>A (n.8370+123966T>A)
2g.108897012T>CCA428203957EDAR,RANBP2c.1242A>G (p.Lys414=)
c.1338A>G (p.Lys446=)
c.1389A>G (p.Lys463=)
c.1293A>G (p.Lys431=)
c.669A>G (p.Lys223=)
c.1482A>G (p.Lys494=)
c.1386A>G (p.Lys462=)
c.8370+123966T>C (n.8370+123966T>C)
2g.108897012T>GCA348047823EDAR,RANBP2c.1242A>C (p.Lys414Asn)
c.1338A>C (p.Lys446Asn)
c.1389A>C (p.Lys463Asn)
c.1293A>C (p.Lys431Asn)
c.669A>C (p.Lys223Asn)
c.1482A>C (p.Lys494Asn)
c.1386A>C (p.Lys462Asn)
c.8370+123966T>G (n.8370+123966T>G)
2g.108897013T>ACA348047826EDAR,RANBP2c.1241A>T (p.Lys414Ile)
c.1337A>T (p.Lys446Ile)
c.1388A>T (p.Lys463Ile)
c.1292A>T (p.Lys431Ile)
c.668A>T (p.Lys223Ile)
c.1481A>T (p.Lys494Ile)
c.1385A>T (p.Lys462Ile)
c.8370+123967T>A (n.8370+123967T>A)
2g.108897013T>CCA348047828EDAR,RANBP2c.1241A>G (p.Lys414Arg)
c.1337A>G (p.Lys446Arg)
c.1388A>G (p.Lys463Arg)
c.1292A>G (p.Lys431Arg)
c.668A>G (p.Lys223Arg)
c.1481A>G (p.Lys494Arg)
c.1385A>G (p.Lys462Arg)
c.8370+123967T>C (n.8370+123967T>C)
2g.108897013T>GCA348047830EDAR,RANBP2c.1241A>C (p.Lys414Thr)
c.1337A>C (p.Lys446Thr)
c.1388A>C (p.Lys463Thr)
c.1292A>C (p.Lys431Thr)
c.668A>C (p.Lys223Thr)
c.1481A>C (p.Lys494Thr)
c.1385A>C (p.Lys462Thr)
c.8370+123967T>G (n.8370+123967T>G)
2g.108897014T>ACA348047832EDAR,RANBP2c.1240A>T (p.Lys414Ter)
c.1336A>T (p.Lys446Ter)
c.1387A>T (p.Lys463Ter)
c.1291A>T (p.Lys431Ter)
c.667A>T (p.Lys223Ter)
c.1480A>T (p.Lys494Ter)
c.1384A>T (p.Lys462Ter)
c.8370+123968T>A (n.8370+123968T>A)
2g.108897014T>CCA348047834EDAR,RANBP2c.1240A>G (p.Lys414Glu)
c.1336A>G (p.Lys446Glu)
c.1387A>G (p.Lys463Glu)
c.1291A>G (p.Lys431Glu)
c.667A>G (p.Lys223Glu)
c.1480A>G (p.Lys494Glu)
c.1384A>G (p.Lys462Glu)
c.8370+123968T>C (n.8370+123968T>C)
2g.108897014T>GCA348047836EDAR,RANBP2c.1240A>C (p.Lys414Gln)
c.1336A>C (p.Lys446Gln)
c.1387A>C (p.Lys463Gln)
c.1291A>C (p.Lys431Gln)
c.667A>C (p.Lys223Gln)
c.1480A>C (p.Lys494Gln)
c.1384A>C (p.Lys462Gln)
c.8370+123968T>G (n.8370+123968T>G)
2g.108897015T>ACA428203958EDAR,RANBP2c.1239A>T (p.Thr413=)
c.1335A>T (p.Thr445=)
c.1386A>T (p.Thr462=)
c.1290A>T (p.Thr430=)
c.666A>T (p.Thr222=)
c.1479A>T (p.Thr493=)
c.1383A>T (p.Thr461=)
c.8370+123969T>A (n.8370+123969T>A)
2g.108897015T>CCA428203959EDAR,RANBP2c.1239A>G (p.Thr413=)
c.1335A>G (p.Thr445=)
c.1386A>G (p.Thr462=)
c.1290A>G (p.Thr430=)
c.666A>G (p.Thr222=)
c.1479A>G (p.Thr493=)
c.1383A>G (p.Thr461=)
c.8370+123969T>C (n.8370+123969T>C)
2g.108897015T>GCA428203960EDAR,RANBP2c.1239A>C (p.Thr413=)
c.1335A>C (p.Thr445=)
c.1386A>C (p.Thr462=)
c.1290A>C (p.Thr430=)
c.666A>C (p.Thr222=)
c.1479A>C (p.Thr493=)
c.1383A>C (p.Thr461=)
c.8370+123969T>G (n.8370+123969T>G)
2g.108897016G>ACA348047842EDAR,RANBP2c.1238C>T (p.Thr413Ile)
c.1334C>T (p.Thr445Ile)
c.1385C>T (p.Thr462Ile)
c.1289C>T (p.Thr430Ile)
c.665C>T (p.Thr222Ile)
c.1478C>T (p.Thr493Ile)
c.1382C>T (p.Thr461Ile)
c.8370+123970G>A (n.8370+123970G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108897016G>CCA348047841EDAR,RANBP2c.1238C>G (p.Thr413Arg)
c.1334C>G (p.Thr445Arg)
c.1385C>G (p.Thr462Arg)
c.1289C>G (p.Thr430Arg)
c.665C>G (p.Thr222Arg)
c.1478C>G (p.Thr493Arg)
c.1382C>G (p.Thr461Arg)
c.8370+123970G>C (n.8370+123970G>C)
2g.108897016G=CA1278354238EDAR,RANBP2c.1238C= (p.Thr413=)
c.1334C= (p.Thr445=)
c.1385C= (p.Thr462=)
c.1289C= (p.Thr430=)
c.665C= (p.Thr222=)
c.1478C= (p.Thr493=)
c.1382C= (p.Thr461=)
c.8370+123970G= (n.8370+123970G=)
2g.108897016G>TCA348047839EDAR,RANBP2c.1238C>A (p.Thr413Lys)
c.1334C>A (p.Thr445Lys)
c.1385C>A (p.Thr462Lys)
c.1289C>A (p.Thr430Lys)
c.665C>A (p.Thr222Lys)
c.1478C>A (p.Thr493Lys)
c.1382C>A (p.Thr461Lys)
c.8370+123970G>T (n.8370+123970G>T)
 gnomAD v4
2g.108897017T>ACA348047844EDAR,RANBP2c.1237A>T (p.Thr413Ser)
c.1333A>T (p.Thr445Ser)
c.1384A>T (p.Thr462Ser)
c.1288A>T (p.Thr430Ser)
c.664A>T (p.Thr222Ser)
c.1477A>T (p.Thr493Ser)
c.1381A>T (p.Thr461Ser)
c.8370+123971T>A (n.8370+123971T>A)
2g.108897017T>CCA348047848EDAR,RANBP2c.1237A>G (p.Thr413Ala)
c.1333A>G (p.Thr445Ala)
c.1384A>G (p.Thr462Ala)
c.1288A>G (p.Thr430Ala)
c.664A>G (p.Thr222Ala)
c.1477A>G (p.Thr493Ala)
c.1381A>G (p.Thr461Ala)
c.8370+123971T>C (n.8370+123971T>C)
2g.108897017T>GCA348047846EDAR,RANBP2c.1237A>C (p.Thr413Pro)
c.1333A>C (p.Thr445Pro)
c.1384A>C (p.Thr462Pro)
c.1288A>C (p.Thr430Pro)
c.664A>C (p.Thr222Pro)
c.1477A>C (p.Thr493Pro)
c.1381A>C (p.Thr461Pro)
c.8370+123971T>G (n.8370+123971T>G)
2g.108897018G>ACA428203962EDAR,RANBP2c.1236C>T (p.Leu412=)
c.1332C>T (p.Leu444=)
c.1383C>T (p.Leu461=)
c.1287C>T (p.Leu429=)
c.663C>T (p.Leu221=)
c.1476C>T (p.Leu492=)
c.1380C>T (p.Leu460=)
c.8370+123972G>A (n.8370+123972G>A)
 gnomAD v4 COSMIC COSMIC
2g.108897018G>CCA428203964EDAR,RANBP2c.1236C>G (p.Leu412=)
c.1332C>G (p.Leu444=)
c.1383C>G (p.Leu461=)
c.1287C>G (p.Leu429=)
c.663C>G (p.Leu221=)
c.1476C>G (p.Leu492=)
c.1380C>G (p.Leu460=)
c.8370+123972G>C (n.8370+123972G>C)
2g.108897018G>TCA428203963EDAR,RANBP2c.1236C>A (p.Leu412=)
c.1332C>A (p.Leu444=)
c.1383C>A (p.Leu461=)
c.1287C>A (p.Leu429=)
c.663C>A (p.Leu221=)
c.1476C>A (p.Leu492=)
c.1380C>A (p.Leu460=)
c.8370+123972G>T (n.8370+123972G>T)
 gnomAD v4
2g.108897019A>CCA348047851EDAR,RANBP2c.1235T>G (p.Leu412Arg)
c.1331T>G (p.Leu444Arg)
c.1382T>G (p.Leu461Arg)
c.1286T>G (p.Leu429Arg)
c.662T>G (p.Leu221Arg)
c.1475T>G (p.Leu492Arg)
c.1379T>G (p.Leu460Arg)
c.8370+123973A>C (n.8370+123973A>C)
2g.108897019A>GCA348047854EDAR,RANBP2c.1235T>C (p.Leu412Pro)
c.1331T>C (p.Leu444Pro)
c.1382T>C (p.Leu461Pro)
c.1286T>C (p.Leu429Pro)
c.662T>C (p.Leu221Pro)
c.1475T>C (p.Leu492Pro)
c.1379T>C (p.Leu460Pro)
c.8370+123973A>G (n.8370+123973A>G)
2g.108897019A>TCA348047852EDAR,RANBP2c.1235T>A (p.Leu412His)
c.1331T>A (p.Leu444His)
c.1382T>A (p.Leu461His)
c.1286T>A (p.Leu429His)
c.662T>A (p.Leu221His)
c.1475T>A (p.Leu492His)
c.1379T>A (p.Leu460His)
c.8370+123973A>T (n.8370+123973A>T)
2g.108897020G>ACA348047857EDAR,RANBP2c.1234C>T (p.Leu412Phe)
c.1330C>T (p.Leu444Phe)
c.1381C>T (p.Leu461Phe)
c.1285C>T (p.Leu429Phe)
c.661C>T (p.Leu221Phe)
c.1474C>T (p.Leu492Phe)
c.1378C>T (p.Leu460Phe)
c.8370+123974G>A (n.8370+123974G>A)
2g.108897020G>CCA348047859EDAR,RANBP2c.1234C>G (p.Leu412Val)
c.1330C>G (p.Leu444Val)
c.1381C>G (p.Leu461Val)
c.1285C>G (p.Leu429Val)
c.661C>G (p.Leu221Val)
c.1474C>G (p.Leu492Val)
c.1378C>G (p.Leu460Val)
c.8370+123974G>C (n.8370+123974G>C)
 gnomAD v4
2g.108897020G>TCA348047861EDAR,RANBP2c.1234C>A (p.Leu412Ile)
c.1330C>A (p.Leu444Ile)
c.1381C>A (p.Leu461Ile)
c.1285C>A (p.Leu429Ile)
c.661C>A (p.Leu221Ile)
c.1474C>A (p.Leu492Ile)
c.1378C>A (p.Leu460Ile)
c.8370+123974G>T (n.8370+123974G>T)
2g.108897021T>ACA428203966EDAR,RANBP2c.1233A>T (p.Leu411=)
c.1329A>T (p.Leu443=)
c.1380A>T (p.Leu460=)
c.1284A>T (p.Leu428=)
c.660A>T (p.Leu220=)
c.1473A>T (p.Leu491=)
c.1377A>T (p.Leu459=)
c.8370+123975T>A (n.8370+123975T>A)
2g.108897021T>CCA428203967EDAR,RANBP2c.1233A>G (p.Leu411=)
c.1329A>G (p.Leu443=)
c.1380A>G (p.Leu460=)
c.1284A>G (p.Leu428=)
c.660A>G (p.Leu220=)
c.1473A>G (p.Leu491=)
c.1377A>G (p.Leu459=)
c.8370+123975T>C (n.8370+123975T>C)

Number of alleles fetched