Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897045C>ACA428204033EDAR,RANBP2c.1209G>T (p.Thr403=)
c.1305G>T (p.Thr435=)
c.1356G>T (p.Thr452=)
c.1260G>T (p.Thr420=)
c.636G>T (p.Thr212=)
c.1449G>T (p.Thr483=)
c.1353G>T (p.Thr451=)
c.8370+123999C>A (p.=)
2g.108897045C=CA1278354246EDAR,RANBP2c.1209G= (p.Thr403=)
c.1305G= (p.Thr435=)
c.1356G= (p.Thr452=)
c.1260G= (p.Thr420=)
c.636G= (p.Thr212=)
c.1449G= (p.Thr483=)
c.1353G= (p.Thr451=)
c.8370+123999C= (p.=)
2g.108897045C>GCA428204034EDAR,RANBP2c.1209G>C (p.Thr403=)
c.1305G>C (p.Thr435=)
c.1356G>C (p.Thr452=)
c.1260G>C (p.Thr420=)
c.636G>C (p.Thr212=)
c.1449G>C (p.Thr483=)
c.1353G>C (p.Thr451=)
c.8370+123999C>G (p.=)
2g.108897045C>TCA1824799EDAR,RANBP2c.1209G>A (p.Thr403=)
c.1305G>A (p.Thr435=)
c.1356G>A (p.Thr452=)
c.1260G>A (p.Thr420=)
c.636G>A (p.Thr212=)
c.1449G>A (p.Thr483=)
c.1353G>A (p.Thr451=)
c.8370+123999C>T (p.=)
ClinVar dbSNP ExAC gnomAD
2g.108897046G>ACA348047975EDAR,RANBP2c.1208C>T (p.Thr403Met)
c.1304C>T (p.Thr435Met)
c.1355C>T (p.Thr452Met)
c.1259C>T (p.Thr420Met)
c.635C>T (p.Thr212Met)
c.1448C>T (p.Thr483Met)
c.1352C>T (p.Thr451Met)
c.8370+124000G>A (p.=)
ClinVar
2g.108897046G>CCA348047979EDAR,RANBP2c.1208C>G (p.Thr403Arg)
c.1304C>G (p.Thr435Arg)
c.1355C>G (p.Thr452Arg)
c.1259C>G (p.Thr420Arg)
c.635C>G (p.Thr212Arg)
c.1448C>G (p.Thr483Arg)
c.1352C>G (p.Thr451Arg)
c.8370+124000G>C (p.=)
2g.108897046G=CA1278354247EDAR,RANBP2c.1208C= (p.Thr403=)
c.1304C= (p.Thr435=)
c.1355C= (p.Thr452=)
c.1259C= (p.Thr420=)
c.635C= (p.Thr212=)
c.1448C= (p.Thr483=)
c.1352C= (p.Thr451=)
c.8370+124000G= (p.=)
2g.108897046G>TCA348047977EDAR,RANBP2c.1208C>A (p.Thr403Lys)
c.1304C>A (p.Thr435Lys)
c.1355C>A (p.Thr452Lys)
c.1259C>A (p.Thr420Lys)
c.635C>A (p.Thr212Lys)
c.1448C>A (p.Thr483Lys)
c.1352C>A (p.Thr451Lys)
c.8370+124000G>T (p.=)
2g.108897047T>ACA348047982EDAR,RANBP2c.1207A>T (p.Thr403Ser)
c.1303A>T (p.Thr435Ser)
c.1354A>T (p.Thr452Ser)
c.1258A>T (p.Thr420Ser)
c.634A>T (p.Thr212Ser)
c.1447A>T (p.Thr483Ser)
c.1351A>T (p.Thr451Ser)
c.8370+124001T>A (p.=)
2g.108897047T>CCA348047984EDAR,RANBP2c.1207A>G (p.Thr403Ala)
c.1303A>G (p.Thr435Ala)
c.1354A>G (p.Thr452Ala)
c.1258A>G (p.Thr420Ala)
c.634A>G (p.Thr212Ala)
c.1447A>G (p.Thr483Ala)
c.1351A>G (p.Thr451Ala)
c.8370+124001T>C (p.=)
2g.108897047T>GCA348047986EDAR,RANBP2c.1207A>C (p.Thr403Pro)
c.1303A>C (p.Thr435Pro)
c.1354A>C (p.Thr452Pro)
c.1258A>C (p.Thr420Pro)
c.634A>C (p.Thr212Pro)
c.1447A>C (p.Thr483Pro)
c.1351A>C (p.Thr451Pro)
c.8370+124001T>G (p.=)
2g.108897048G>ACA428204043EDAR,RANBP2c.1206C>T (p.Ser402=)
c.1302C>T (p.Ser434=)
c.1353C>T (p.Ser451=)
c.1257C>T (p.Ser419=)
c.633C>T (p.Ser211=)
c.1446C>T (p.Ser482=)
c.1350C>T (p.Ser450=)
c.8370+124002G>A (p.=)
gnomAD
2g.108897048G>CCA348047987EDAR,RANBP2c.1206C>G (p.Ser402Arg)
c.1302C>G (p.Ser434Arg)
c.1353C>G (p.Ser451Arg)
c.1257C>G (p.Ser419Arg)
c.633C>G (p.Ser211Arg)
c.1446C>G (p.Ser482Arg)
c.1350C>G (p.Ser450Arg)
c.8370+124002G>C (p.=)
2g.108897048G=CA1278354248EDAR,RANBP2c.1206C= (p.Ser402=)
c.1302C= (p.Ser434=)
c.1353C= (p.Ser451=)
c.1257C= (p.Ser419=)
c.633C= (p.Ser211=)
c.1446C= (p.Ser482=)
c.1350C= (p.Ser450=)
c.8370+124002G= (p.=)
2g.108897048G>TCA348047989EDAR,RANBP2c.1206C>A (p.Ser402Arg)
c.1302C>A (p.Ser434Arg)
c.1353C>A (p.Ser451Arg)
c.1257C>A (p.Ser419Arg)
c.633C>A (p.Ser211Arg)
c.1446C>A (p.Ser482Arg)
c.1350C>A (p.Ser450Arg)
c.8370+124002G>T (p.=)
2g.108897049C>ACA348047991EDAR,RANBP2c.1205G>T (p.Ser402Ile)
c.1301G>T (p.Ser434Ile)
c.1352G>T (p.Ser451Ile)
c.1256G>T (p.Ser419Ile)
c.632G>T (p.Ser211Ile)
c.1445G>T (p.Ser482Ile)
c.1349G>T (p.Ser450Ile)
c.8370+124003C>A (p.=)
2g.108897049C=CA1278354249EDAR,RANBP2c.1205G= (p.Ser402=)
c.1301G= (p.Ser434=)
c.1352G= (p.Ser451=)
c.1256G= (p.Ser419=)
c.632G= (p.Ser211=)
c.1445G= (p.Ser482=)
c.1349G= (p.Ser450=)
c.8370+124003C= (p.=)
2g.108897049C>GCA348047993EDAR,RANBP2c.1205G>C (p.Ser402Thr)
c.1301G>C (p.Ser434Thr)
c.1352G>C (p.Ser451Thr)
c.1256G>C (p.Ser419Thr)
c.632G>C (p.Ser211Thr)
c.1445G>C (p.Ser482Thr)
c.1349G>C (p.Ser450Thr)
c.8370+124003C>G (p.=)
2g.108897049C>TCA348047994EDAR,RANBP2c.1205G>A (p.Ser402Asn)
c.1301G>A (p.Ser434Asn)
c.1352G>A (p.Ser451Asn)
c.1256G>A (p.Ser419Asn)
c.632G>A (p.Ser211Asn)
c.1445G>A (p.Ser482Asn)
c.1349G>A (p.Ser450Asn)
c.8370+124003C>T (p.=)
gnomAD
2g.108897050T>ACA348047995EDAR,RANBP2c.1204A>T (p.Ser402Cys)
c.1300A>T (p.Ser434Cys)
c.1351A>T (p.Ser451Cys)
c.1255A>T (p.Ser419Cys)
c.631A>T (p.Ser211Cys)
c.1444A>T (p.Ser482Cys)
c.1348A>T (p.Ser450Cys)
c.8370+124004T>A (p.=)
2g.108897050T>CCA348047996EDAR,RANBP2c.1204A>G (p.Ser402Gly)
c.1300A>G (p.Ser434Gly)
c.1351A>G (p.Ser451Gly)
c.1255A>G (p.Ser419Gly)
c.631A>G (p.Ser211Gly)
c.1444A>G (p.Ser482Gly)
c.1348A>G (p.Ser450Gly)
c.8370+124004T>C (p.=)
2g.108897050T>GCA348047997EDAR,RANBP2c.1204A>C (p.Ser402Arg)
c.1300A>C (p.Ser434Arg)
c.1351A>C (p.Ser451Arg)
c.1255A>C (p.Ser419Arg)
c.631A>C (p.Ser211Arg)
c.1444A>C (p.Ser482Arg)
c.1348A>C (p.Ser450Arg)
c.8370+124004T>G (p.=)
2g.108897051G>ACA428204054EDAR,RANBP2c.1203C>T (p.Ile401=)
c.1299C>T (p.Ile433=)
c.1350C>T (p.Ile450=)
c.1254C>T (p.Ile418=)
c.630C>T (p.Ile210=)
c.1443C>T (p.Ile481=)
c.1347C>T (p.Ile449=)
c.8370+124005G>A (p.=)
2g.108897051G>CCA348047998EDAR,RANBP2c.1203C>G (p.Ile401Met)
c.1299C>G (p.Ile433Met)
c.1350C>G (p.Ile450Met)
c.1254C>G (p.Ile418Met)
c.630C>G (p.Ile210Met)
c.1443C>G (p.Ile481Met)
c.1347C>G (p.Ile449Met)
c.8370+124005G>C (p.=)
2g.108897051G>TCA428204055EDAR,RANBP2c.1203C>A (p.Ile401=)
c.1299C>A (p.Ile433=)
c.1350C>A (p.Ile450=)
c.1254C>A (p.Ile418=)
c.630C>A (p.Ile210=)
c.1443C>A (p.Ile481=)
c.1347C>A (p.Ile449=)
c.8370+124005G>T (p.=)
2g.108897052A>CCA348048001EDAR,RANBP2c.1202T>G (p.Ile401Ser)
c.1298T>G (p.Ile433Ser)
c.1349T>G (p.Ile450Ser)
c.1253T>G (p.Ile418Ser)
c.629T>G (p.Ile210Ser)
c.1442T>G (p.Ile481Ser)
c.1346T>G (p.Ile449Ser)
c.8370+124006A>C (p.=)
2g.108897052A>GCA348047999EDAR,RANBP2c.1202T>C (p.Ile401Thr)
c.1298T>C (p.Ile433Thr)
c.1349T>C (p.Ile450Thr)
c.1253T>C (p.Ile418Thr)
c.629T>C (p.Ile210Thr)
c.1442T>C (p.Ile481Thr)
c.1346T>C (p.Ile449Thr)
c.8370+124006A>G (p.=)
2g.108897052A>TCA348048000EDAR,RANBP2c.1202T>A (p.Ile401Asn)
c.1298T>A (p.Ile433Asn)
c.1349T>A (p.Ile450Asn)
c.1253T>A (p.Ile418Asn)
c.629T>A (p.Ile210Asn)
c.1442T>A (p.Ile481Asn)
c.1346T>A (p.Ile449Asn)
c.8370+124006A>T (p.=)
2g.108897053T>ACA348048002EDAR,RANBP2c.1201A>T (p.Ile401Phe)
c.1297A>T (p.Ile433Phe)
c.1348A>T (p.Ile450Phe)
c.1252A>T (p.Ile418Phe)
c.628A>T (p.Ile210Phe)
c.1441A>T (p.Ile481Phe)
c.1345A>T (p.Ile449Phe)
c.8370+124007T>A (p.=)
2g.108897053T>CCA348048003EDAR,RANBP2c.1201A>G (p.Ile401Val)
c.1297A>G (p.Ile433Val)
c.1348A>G (p.Ile450Val)
c.1252A>G (p.Ile418Val)
c.628A>G (p.Ile210Val)
c.1441A>G (p.Ile481Val)
c.1345A>G (p.Ile449Val)
c.8370+124007T>C (p.=)
2g.108897053T>GCA348048004EDAR,RANBP2c.1201A>C (p.Ile401Leu)
c.1297A>C (p.Ile433Leu)
c.1348A>C (p.Ile450Leu)
c.1252A>C (p.Ile418Leu)
c.628A>C (p.Ile210Leu)
c.1441A>C (p.Ile481Leu)
c.1345A>C (p.Ile449Leu)
c.8370+124007T>G (p.=)
2g.108897053T=CA1278354250EDAR,RANBP2c.1201A= (p.Ile401=)
c.1297A= (p.Ile433=)
c.1348A= (p.Ile450=)
c.1252A= (p.Ile418=)
c.628A= (p.Ile210=)
c.1441A= (p.Ile481=)
c.1345A= (p.Ile449=)
c.8370+124007T= (p.=)
2g.108897054G>ACA428204060EDAR,RANBP2c.1200C>T (p.Arg400=)
c.1296C>T (p.Arg432=)
c.1347C>T (p.Arg449=)
c.1251C>T (p.Arg417=)
c.627C>T (p.Arg209=)
c.1440C>T (p.Arg480=)
c.1344C>T (p.Arg448=)
c.8370+124008G>A (p.=)
2g.108897054G>CCA428204062EDAR,RANBP2c.1200C>G (p.Arg400=)
c.1296C>G (p.Arg432=)
c.1347C>G (p.Arg449=)
c.1251C>G (p.Arg417=)
c.627C>G (p.Arg209=)
c.1440C>G (p.Arg480=)
c.1344C>G (p.Arg448=)
c.8370+124008G>C (p.=)
2g.108897054G>TCA428204061EDAR,RANBP2c.1200C>A (p.Arg400=)
c.1296C>A (p.Arg432=)
c.1347C>A (p.Arg449=)
c.1251C>A (p.Arg417=)
c.627C>A (p.Arg209=)
c.1440C>A (p.Arg480=)
c.1344C>A (p.Arg448=)
c.8370+124008G>T (p.=)
2g.108897055C>ACA348048005EDAR,RANBP2c.1199G>T (p.Arg400Leu)
c.1295G>T (p.Arg432Leu)
c.1346G>T (p.Arg449Leu)
c.1250G>T (p.Arg417Leu)
c.626G>T (p.Arg209Leu)
c.1439G>T (p.Arg480Leu)
c.1343G>T (p.Arg448Leu)
c.8370+124009C>A (p.=)
2g.108897055C=CA1278354251EDAR,RANBP2c.1199G= (p.Arg400=)
c.1295G= (p.Arg432=)
c.1346G= (p.Arg449=)
c.1250G= (p.Arg417=)
c.626G= (p.Arg209=)
c.1439G= (p.Arg480=)
c.1343G= (p.Arg448=)
c.8370+124009C= (p.=)
2g.108897055C>GCA348048006EDAR,RANBP2c.1199G>C (p.Arg400Pro)
c.1295G>C (p.Arg432Pro)
c.1346G>C (p.Arg449Pro)
c.1250G>C (p.Arg417Pro)
c.626G>C (p.Arg209Pro)
c.1439G>C (p.Arg480Pro)
c.1343G>C (p.Arg448Pro)
c.8370+124009C>G (p.=)
2g.108897055C>TCA1824800EDAR,RANBP2c.1199G>A (p.Arg400His)
c.1295G>A (p.Arg432His)
c.1346G>A (p.Arg449His)
c.1250G>A (p.Arg417His)
c.626G>A (p.Arg209His)
c.1439G>A (p.Arg480His)
c.1343G>A (p.Arg448His)
c.8370+124009C>T (p.=)
dbSNP ExAC gnomAD COSMIC COSMIC
2g.108897056G>ACA1824801EDAR,RANBP2c.1198C>T (p.Arg400Cys)
c.1294C>T (p.Arg432Cys)
c.1345C>T (p.Arg449Cys)
c.1249C>T (p.Arg417Cys)
c.625C>T (p.Arg209Cys)
c.1438C>T (p.Arg480Cys)
c.1342C>T (p.Arg448Cys)
c.8370+124010G>A (p.=)
dbSNP ExAC gnomAD COSMIC COSMIC
2g.108897056G>CCA348048007EDAR,RANBP2c.1198C>G (p.Arg400Gly)
c.1294C>G (p.Arg432Gly)
c.1345C>G (p.Arg449Gly)
c.1249C>G (p.Arg417Gly)
c.625C>G (p.Arg209Gly)
c.1438C>G (p.Arg480Gly)
c.1342C>G (p.Arg448Gly)
c.8370+124010G>C (p.=)
2g.108897056G=CA1278354252EDAR,RANBP2c.1198C= (p.Arg400=)
c.1294C= (p.Arg432=)
c.1345C= (p.Arg449=)
c.1249C= (p.Arg417=)
c.625C= (p.Arg209=)
c.1438C= (p.Arg480=)
c.1342C= (p.Arg448=)
c.8370+124010G= (p.=)
2g.108897056G>TCA348048008EDAR,RANBP2c.1198C>A (p.Arg400Ser)
c.1294C>A (p.Arg432Ser)
c.1345C>A (p.Arg449Ser)
c.1249C>A (p.Arg417Ser)
c.625C>A (p.Arg209Ser)
c.1438C>A (p.Arg480Ser)
c.1342C>A (p.Arg448Ser)
c.8370+124010G>T (p.=)
2g.108897057G>ACA428204067EDAR,RANBP2c.1197C>T (p.Asp399=)
c.1293C>T (p.Asp431=)
c.1344C>T (p.Asp448=)
c.1248C>T (p.Asp416=)
c.624C>T (p.Asp208=)
c.1437C>T (p.Asp479=)
c.1341C>T (p.Asp447=)
c.8370+124011G>A (p.=)
COSMIC COSMIC
2g.108897057G>CCA348048009EDAR,RANBP2c.1197C>G (p.Asp399Glu)
c.1293C>G (p.Asp431Glu)
c.1344C>G (p.Asp448Glu)
c.1248C>G (p.Asp416Glu)
c.624C>G (p.Asp208Glu)
c.1437C>G (p.Asp479Glu)
c.1341C>G (p.Asp447Glu)
c.8370+124011G>C (p.=)
2g.108897057G=CA1278354253EDAR,RANBP2c.1197C= (p.Asp399=)
c.1293C= (p.Asp431=)
c.1344C= (p.Asp448=)
c.1248C= (p.Asp416=)
c.624C= (p.Asp208=)
c.1437C= (p.Asp479=)
c.1341C= (p.Asp447=)
c.8370+124011G= (p.=)
2g.108897057G>TCA348048010EDAR,RANBP2c.1197C>A (p.Asp399Glu)
c.1293C>A (p.Asp431Glu)
c.1344C>A (p.Asp448Glu)
c.1248C>A (p.Asp416Glu)
c.624C>A (p.Asp208Glu)
c.1437C>A (p.Asp479Glu)
c.1341C>A (p.Asp447Glu)
c.8370+124011G>T (p.=)
gnomAD
2g.108897058T>ACA348048013EDAR,RANBP2c.1196A>T (p.Asp399Val)
c.1292A>T (p.Asp431Val)
c.1343A>T (p.Asp448Val)
c.1247A>T (p.Asp416Val)
c.623A>T (p.Asp208Val)
c.1436A>T (p.Asp479Val)
c.1340A>T (p.Asp447Val)
c.8370+124012T>A (p.=)
2g.108897058T>CCA348048012EDAR,RANBP2c.1196A>G (p.Asp399Gly)
c.1292A>G (p.Asp431Gly)
c.1343A>G (p.Asp448Gly)
c.1247A>G (p.Asp416Gly)
c.623A>G (p.Asp208Gly)
c.1436A>G (p.Asp479Gly)
c.1340A>G (p.Asp447Gly)
c.8370+124012T>C (p.=)
2g.108897058T>GCA348048011EDAR,RANBP2c.1196A>C (p.Asp399Ala)
c.1292A>C (p.Asp431Ala)
c.1343A>C (p.Asp448Ala)
c.1247A>C (p.Asp416Ala)
c.623A>C (p.Asp208Ala)
c.1436A>C (p.Asp479Ala)
c.1340A>C (p.Asp447Ala)
c.8370+124012T>G (p.=)
gnomAD

Number of alleles fetched