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 (n.8370+123999C>A)
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= (n.8370+123999C=)
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 (n.8370+123999C>G)
 gnomAD v4
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 (n.8370+123999C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
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 (n.8370+124000G>A)
 ClinVar dbSNP gnomAD v4
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 (n.8370+124000G>C)
 ClinVar
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= (n.8370+124000G=)
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 (n.8370+124000G>T)
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 (n.8370+124001T>A)
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 (n.8370+124001T>C)
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 (n.8370+124001T>G)
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 (n.8370+124002G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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 (n.8370+124002G>C)
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= (n.8370+124002G=)
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 (n.8370+124002G>T)
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 (n.8370+124003C>A)
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= (n.8370+124003C=)
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 (n.8370+124003C>G)
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 (n.8370+124003C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
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 (n.8370+124004T>A)
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 (n.8370+124004T>C)
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 (n.8370+124004T>G)
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 (n.8370+124005G>A)
 gnomAD v4
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 (n.8370+124005G>C)
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 (n.8370+124005G>T)
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 (n.8370+124006A>C)
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 (n.8370+124006A>G)
 ClinVar gnomAD v4
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 (n.8370+124006A>T)
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 (n.8370+124007T>A)
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 (n.8370+124007T>C)
 dbSNP
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 (n.8370+124007T>G)
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= (n.8370+124007T=)
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 (n.8370+124008G>A)
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 (n.8370+124008G>C)
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 (n.8370+124008G>T)
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 (n.8370+124009C>A)
 dbSNP gnomAD v4
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= (n.8370+124009C=)
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 (n.8370+124009C>G)
 ClinVar
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 (n.8370+124009C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 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 (n.8370+124010G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 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 (n.8370+124010G>C)
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= (n.8370+124010G=)
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 (n.8370+124010G>T)
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 (n.8370+124011G>A)
 gnomAD v4 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 (n.8370+124011G>C)
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= (n.8370+124011G=)
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 (n.8370+124011G>T)
 dbSNP gnomAD v2 gnomAD v4
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 (n.8370+124012T>A)
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 (n.8370+124012T>C)
 gnomAD v4
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 (n.8370+124012T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108897058T=CA1278354254EDAR,RANBP2c.1196A= (p.Asp399=)
c.1292A= (p.Asp431=)
c.1343A= (p.Asp448=)
c.1247A= (p.Asp416=)
c.623A= (p.Asp208=)
c.1436A= (p.Asp479=)
c.1340A= (p.Asp447=)
c.8370+124012T= (n.8370+124012T=)
2g.108897059C>ACA348048014EDAR,RANBP2c.1195G>T (p.Asp399Tyr)
c.1291G>T (p.Asp431Tyr)
c.1342G>T (p.Asp448Tyr)
c.1246G>T (p.Asp416Tyr)
c.622G>T (p.Asp208Tyr)
c.1435G>T (p.Asp479Tyr)
c.1339G>T (p.Asp447Tyr)
c.8370+124013C>A (n.8370+124013C>A)
2g.108897059C=CA1278354255EDAR,RANBP2c.1195G= (p.Asp399=)
c.1291G= (p.Asp431=)
c.1342G= (p.Asp448=)
c.1246G= (p.Asp416=)
c.622G= (p.Asp208=)
c.1435G= (p.Asp479=)
c.1339G= (p.Asp447=)
c.8370+124013C= (n.8370+124013C=)
2g.108897059C>GCA348048015EDAR,RANBP2c.1195G>C (p.Asp399His)
c.1291G>C (p.Asp431His)
c.1342G>C (p.Asp448His)
c.1246G>C (p.Asp416His)
c.622G>C (p.Asp208His)
c.1435G>C (p.Asp479His)
c.1339G>C (p.Asp447His)
c.8370+124013C>G (n.8370+124013C>G)
 dbSNP gnomAD v2
2g.108897059C>TCA348048016EDAR,RANBP2c.1195G>A (p.Asp399Asn)
c.1291G>A (p.Asp431Asn)
c.1342G>A (p.Asp448Asn)
c.1246G>A (p.Asp416Asn)
c.622G>A (p.Asp208Asn)
c.1435G>A (p.Asp479Asn)
c.1339G>A (p.Asp447Asn)
c.8370+124013C>T (n.8370+124013C>T)
2g.108897059_108897061delinsCAACA1278354256EDAR,RANBP2c.1193_1195delinsTTG (p.Phe398=)
c.1289_1291delinsTTG (p.Phe430=)
c.1340_1342delinsTTG (p.Phe447=)
c.1244_1246delinsTTG (p.Phe415=)
c.620_622delinsTTG (p.Phe207=)
c.1433_1435delinsTTG (p.Phe478=)
c.1337_1339delinsTTG (p.Phe446=)
c.8370+124013_8370+124015delinsCAA (n.8370+124013_8370+124015delinsCAA)
2g.108897060A=CA1278354257EDAR,RANBP2c.1194T= (p.Phe398=)
c.1290T= (p.Phe430=)
c.1341T= (p.Phe447=)
c.1245T= (p.Phe415=)
c.621T= (p.Phe207=)
c.1434T= (p.Phe478=)
c.1338T= (p.Phe446=)
c.8370+124014A= (n.8370+124014A=)
2g.108897060A>CCA348048017EDAR,RANBP2c.1194T>G (p.Phe398Leu)
c.1290T>G (p.Phe430Leu)
c.1341T>G (p.Phe447Leu)
c.1245T>G (p.Phe415Leu)
c.621T>G (p.Phe207Leu)
c.1434T>G (p.Phe478Leu)
c.1338T>G (p.Phe446Leu)
c.8370+124014A>C (n.8370+124014A>C)
2g.108897060A>GCA1824802EDAR,RANBP2c.1194T>C (p.Phe398=)
c.1290T>C (p.Phe430=)
c.1341T>C (p.Phe447=)
c.1245T>C (p.Phe415=)
c.621T>C (p.Phe207=)
c.1434T>C (p.Phe478=)
c.1338T>C (p.Phe446=)
c.8370+124014A>G (n.8370+124014A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897060A>TCA348048018EDAR,RANBP2c.1194T>A (p.Phe398Leu)
c.1290T>A (p.Phe430Leu)
c.1341T>A (p.Phe447Leu)
c.1245T>A (p.Phe415Leu)
c.621T>A (p.Phe207Leu)
c.1434T>A (p.Phe478Leu)
c.1338T>A (p.Phe446Leu)
c.8370+124014A>T (n.8370+124014A>T)
 gnomAD v4
2g.108897061_108897062delCA658795840EDAR,RANBP2c.1193_1194del (p.Phe398Ter)
c.1289_1290del (p.Phe430Ter)
c.1340_1341del (p.Phe447Ter)
c.1244_1245del (p.Phe415Ter)
c.620_621del (p.Phe207Ter)
c.1433_1434del (p.Phe478Ter)
c.1337_1338del (p.Phe446Ter)
c.8370+124015_8370+124016del (n.8370+124015_8370+124016del)
 ClinVar dbSNP gnomAD v4
2g.108897061A>CCA348048019EDAR,RANBP2c.1193T>G (p.Phe398Cys)
c.1289T>G (p.Phe430Cys)
c.1340T>G (p.Phe447Cys)
c.1244T>G (p.Phe415Cys)
c.620T>G (p.Phe207Cys)
c.1433T>G (p.Phe478Cys)
c.1337T>G (p.Phe446Cys)
c.8370+124015A>C (n.8370+124015A>C)
2g.108897061A>GCA348048020EDAR,RANBP2c.1193T>C (p.Phe398Ser)
c.1289T>C (p.Phe430Ser)
c.1340T>C (p.Phe447Ser)
c.1244T>C (p.Phe415Ser)
c.620T>C (p.Phe207Ser)
c.1433T>C (p.Phe478Ser)
c.1337T>C (p.Phe446Ser)
c.8370+124015A>G (n.8370+124015A>G)
2g.108897061A>TCA348048021EDAR,RANBP2c.1193T>A (p.Phe398Tyr)
c.1289T>A (p.Phe430Tyr)
c.1340T>A (p.Phe447Tyr)
c.1244T>A (p.Phe415Tyr)
c.620T>A (p.Phe207Tyr)
c.1433T>A (p.Phe478Tyr)
c.1337T>A (p.Phe446Tyr)
c.8370+124015A>T (n.8370+124015A>T)
2g.108897062A>CCA348048022EDAR,RANBP2c.1192T>G (p.Phe398Val)
c.1288T>G (p.Phe430Val)
c.1339T>G (p.Phe447Val)
c.1243T>G (p.Phe415Val)
c.619T>G (p.Phe207Val)
c.1432T>G (p.Phe478Val)
c.1336T>G (p.Phe446Val)
c.8370+124016A>C (n.8370+124016A>C)
2g.108897062A>GCA348048023EDAR,RANBP2c.1192T>C (p.Phe398Leu)
c.1288T>C (p.Phe430Leu)
c.1339T>C (p.Phe447Leu)
c.1243T>C (p.Phe415Leu)
c.619T>C (p.Phe207Leu)
c.1432T>C (p.Phe478Leu)
c.1336T>C (p.Phe446Leu)
c.8370+124016A>G (n.8370+124016A>G)
2g.108897062A>TCA348048024EDAR,RANBP2c.1192T>A (p.Phe398Ile)
c.1288T>A (p.Phe430Ile)
c.1339T>A (p.Phe447Ile)
c.1243T>A (p.Phe415Ile)
c.619T>A (p.Phe207Ile)
c.1432T>A (p.Phe478Ile)
c.1336T>A (p.Phe446Ile)
c.8370+124016A>T (n.8370+124016A>T)
2g.108897063G>ACA428204073EDAR,RANBP2c.1191C>T (p.Leu397=)
c.1287C>T (p.Leu429=)
c.1338C>T (p.Leu446=)
c.1242C>T (p.Leu414=)
c.618C>T (p.Leu206=)
c.1431C>T (p.Leu477=)
c.1335C>T (p.Leu445=)
c.8370+124017G>A (n.8370+124017G>A)
2g.108897063G>CCA428204074EDAR,RANBP2c.1191C>G (p.Leu397=)
c.1287C>G (p.Leu429=)
c.1338C>G (p.Leu446=)
c.1242C>G (p.Leu414=)
c.618C>G (p.Leu206=)
c.1431C>G (p.Leu477=)
c.1335C>G (p.Leu445=)
c.8370+124017G>C (n.8370+124017G>C)
2g.108897063G>TCA428204075EDAR,RANBP2c.1191C>A (p.Leu397=)
c.1287C>A (p.Leu429=)
c.1338C>A (p.Leu446=)
c.1242C>A (p.Leu414=)
c.618C>A (p.Leu206=)
c.1431C>A (p.Leu477=)
c.1335C>A (p.Leu445=)
c.8370+124017G>T (n.8370+124017G>T)
2g.108897064A>CCA348048026EDAR,RANBP2c.1190T>G (p.Leu397Arg)
c.1286T>G (p.Leu429Arg)
c.1337T>G (p.Leu446Arg)
c.1241T>G (p.Leu414Arg)
c.617T>G (p.Leu206Arg)
c.1430T>G (p.Leu477Arg)
c.1334T>G (p.Leu445Arg)
c.8370+124018A>C (n.8370+124018A>C)
2g.108897064A>GCA348048027EDAR,RANBP2c.1190T>C (p.Leu397Pro)
c.1286T>C (p.Leu429Pro)
c.1337T>C (p.Leu446Pro)
c.1241T>C (p.Leu414Pro)
c.617T>C (p.Leu206Pro)
c.1430T>C (p.Leu477Pro)
c.1334T>C (p.Leu445Pro)
c.8370+124018A>G (n.8370+124018A>G)
2g.108897064A>TCA348048025EDAR,RANBP2c.1190T>A (p.Leu397His)
c.1286T>A (p.Leu429His)
c.1337T>A (p.Leu446His)
c.1241T>A (p.Leu414His)
c.617T>A (p.Leu206His)
c.1430T>A (p.Leu477His)
c.1334T>A (p.Leu445His)
c.8370+124018A>T (n.8370+124018A>T)
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)
2g.108897079G>ACA53464748EDAR,RANBP2c.1175C>T (p.Thr392Ile)
c.1271C>T (p.Thr424Ile)
c.1322C>T (p.Thr441Ile)
c.1226C>T (p.Thr409Ile)
c.602C>T (p.Thr201Ile)
c.1415C>T (p.Thr472Ile)
c.1319C>T (p.Thr440Ile)
c.8370+124033G>A (n.8370+124033G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897079G>CCA348048061EDAR,RANBP2c.1175C>G (p.Thr392Arg)
c.1271C>G (p.Thr424Arg)
c.1322C>G (p.Thr441Arg)
c.1226C>G (p.Thr409Arg)
c.602C>G (p.Thr201Arg)
c.1415C>G (p.Thr472Arg)
c.1319C>G (p.Thr440Arg)
c.8370+124033G>C (n.8370+124033G>C)
 gnomAD v4
2g.108897079G=CA1278354263EDAR,RANBP2c.1175C= (p.Thr392=)
c.1271C= (p.Thr424=)
c.1322C= (p.Thr441=)
c.1226C= (p.Thr409=)
c.602C= (p.Thr201=)
c.1415C= (p.Thr472=)
c.1319C= (p.Thr440=)
c.8370+124033G= (n.8370+124033G=)
2g.108897079G>TCA348048060EDAR,RANBP2c.1175C>A (p.Thr392Lys)
c.1271C>A (p.Thr424Lys)
c.1322C>A (p.Thr441Lys)
c.1226C>A (p.Thr409Lys)
c.602C>A (p.Thr201Lys)
c.1415C>A (p.Thr472Lys)
c.1319C>A (p.Thr440Lys)
c.8370+124033G>T (n.8370+124033G>T)
2g.108897080T>ACA348048062EDAR,RANBP2c.1174A>T (p.Thr392Ser)
c.1270A>T (p.Thr424Ser)
c.1321A>T (p.Thr441Ser)
c.1225A>T (p.Thr409Ser)
c.601A>T (p.Thr201Ser)
c.1414A>T (p.Thr472Ser)
c.1318A>T (p.Thr440Ser)
c.8370+124034T>A (n.8370+124034T>A)
2g.108897080T>CCA348048063EDAR,RANBP2c.1174A>G (p.Thr392Ala)
c.1270A>G (p.Thr424Ala)
c.1321A>G (p.Thr441Ala)
c.1225A>G (p.Thr409Ala)
c.601A>G (p.Thr201Ala)
c.1414A>G (p.Thr472Ala)
c.1318A>G (p.Thr440Ala)
c.8370+124034T>C (n.8370+124034T>C)
2g.108897080T>GCA348048064EDAR,RANBP2c.1174A>C (p.Thr392Pro)
c.1270A>C (p.Thr424Pro)
c.1321A>C (p.Thr441Pro)
c.1225A>C (p.Thr409Pro)
c.601A>C (p.Thr201Pro)
c.1414A>C (p.Thr472Pro)
c.1318A>C (p.Thr440Pro)
c.8370+124034T>G (n.8370+124034T>G)
2g.108897081C>ACA348048065EDAR,RANBP2c.1173G>T (p.Met391Ile)
c.1269G>T (p.Met423Ile)
c.1320G>T (p.Met440Ile)
c.1224G>T (p.Met408Ile)
c.600G>T (p.Met200Ile)
c.1413G>T (p.Met471Ile)
c.1317G>T (p.Met439Ile)
c.8370+124035C>A (n.8370+124035C>A)
2g.108897081C>GCA348048066EDAR,RANBP2c.1173G>C (p.Met391Ile)
c.1269G>C (p.Met423Ile)
c.1320G>C (p.Met440Ile)
c.1224G>C (p.Met408Ile)
c.600G>C (p.Met200Ile)
c.1413G>C (p.Met471Ile)
c.1317G>C (p.Met439Ile)
c.8370+124035C>G (n.8370+124035C>G)
2g.108897081C>TCA348048067EDAR,RANBP2c.1173G>A (p.Met391Ile)
c.1269G>A (p.Met423Ile)
c.1320G>A (p.Met440Ile)
c.1224G>A (p.Met408Ile)
c.600G>A (p.Met200Ile)
c.1413G>A (p.Met471Ile)
c.1317G>A (p.Met439Ile)
c.8370+124035C>T (n.8370+124035C>T)
 gnomAD v4
2g.108897082A>CCA348048068EDAR,RANBP2c.1172T>G (p.Met391Arg)
c.1268T>G (p.Met423Arg)
c.1319T>G (p.Met440Arg)
c.1223T>G (p.Met408Arg)
c.599T>G (p.Met200Arg)
c.1412T>G (p.Met471Arg)
c.1316T>G (p.Met439Arg)
c.8370+124036A>C (n.8370+124036A>C)
2g.108897082A>GCA348048069EDAR,RANBP2c.1172T>C (p.Met391Thr)
c.1268T>C (p.Met423Thr)
c.1319T>C (p.Met440Thr)
c.1223T>C (p.Met408Thr)
c.599T>C (p.Met200Thr)
c.1412T>C (p.Met471Thr)
c.1316T>C (p.Met439Thr)
c.8370+124036A>G (n.8370+124036A>G)
 gnomAD v4 COSMIC COSMIC
2g.108897082A>TCA348048070EDAR,RANBP2c.1172T>A (p.Met391Lys)
c.1268T>A (p.Met423Lys)
c.1319T>A (p.Met440Lys)
c.1223T>A (p.Met408Lys)
c.599T>A (p.Met200Lys)
c.1412T>A (p.Met471Lys)
c.1316T>A (p.Met439Lys)
c.8370+124036A>T (n.8370+124036A>T)
 gnomAD v4
2g.108897083T>ACA348048073EDAR,RANBP2c.1171A>T (p.Met391Leu)
c.1267A>T (p.Met423Leu)
c.1318A>T (p.Met440Leu)
c.1222A>T (p.Met408Leu)
c.598A>T (p.Met200Leu)
c.1411A>T (p.Met471Leu)
c.1315A>T (p.Met439Leu)
c.8370+124037T>A (n.8370+124037T>A)
2g.108897083T>CCA348048072EDAR,RANBP2c.1171A>G (p.Met391Val)
c.1267A>G (p.Met423Val)
c.1318A>G (p.Met440Val)
c.1222A>G (p.Met408Val)
c.598A>G (p.Met200Val)
c.1411A>G (p.Met471Val)
c.1315A>G (p.Met439Val)
c.8370+124037T>C (n.8370+124037T>C)
2g.108897083T>GCA348048071EDAR,RANBP2c.1171A>C (p.Met391Leu)
c.1267A>C (p.Met423Leu)
c.1318A>C (p.Met440Leu)
c.1222A>C (p.Met408Leu)
c.598A>C (p.Met200Leu)
c.1411A>C (p.Met471Leu)
c.1315A>C (p.Met439Leu)
c.8370+124037T>G (n.8370+124037T>G)
2g.108897084G>ACA428204117EDAR,RANBP2c.1170C>T (p.Gly390=)
c.1266C>T (p.Gly422=)
c.1317C>T (p.Gly439=)
c.1221C>T (p.Gly407=)
c.597C>T (p.Gly199=)
c.1410C>T (p.Gly470=)
c.1314C>T (p.Gly438=)
c.8370+124038G>A (n.8370+124038G>A)
 gnomAD v4
2g.108897084G>CCA428204118EDAR,RANBP2c.1170C>G (p.Gly390=)
c.1266C>G (p.Gly422=)
c.1317C>G (p.Gly439=)
c.1221C>G (p.Gly407=)
c.597C>G (p.Gly199=)
c.1410C>G (p.Gly470=)
c.1314C>G (p.Gly438=)
c.8370+124038G>C (n.8370+124038G>C)
2g.108897084G>TCA428204119EDAR,RANBP2c.1170C>A (p.Gly390=)
c.1266C>A (p.Gly422=)
c.1317C>A (p.Gly439=)
c.1221C>A (p.Gly407=)
c.597C>A (p.Gly199=)
c.1410C>A (p.Gly470=)
c.1314C>A (p.Gly438=)
c.8370+124038G>T (n.8370+124038G>T)
 dbSNP gnomAD v4
2g.108897084_108897085delinsGCCA1278354264EDAR,RANBP2c.1169_1170delinsGC (p.Gly390=)
c.1265_1266delinsGC (p.Gly422=)
c.1316_1317delinsGC (p.Gly439=)
c.1220_1221delinsGC (p.Gly407=)
c.596_597delinsGC (p.Gly199=)
c.1409_1410delinsGC (p.Gly470=)
c.1313_1314delinsGC (p.Gly438=)
c.8370+124038_8370+124039delinsGC (n.8370+124038_8370+124039delinsGC)
2g.108897085C>ACA348048074EDAR,RANBP2c.1169G>T (p.Gly390Val)
c.1265G>T (p.Gly422Val)
c.1316G>T (p.Gly439Val)
c.1220G>T (p.Gly407Val)
c.596G>T (p.Gly199Val)
c.1409G>T (p.Gly470Val)
c.1313G>T (p.Gly438Val)
c.8370+124039C>A (n.8370+124039C>A)
2g.108897085C=CA1278354265EDAR,RANBP2c.1169G= (p.Gly390=)
c.1265G= (p.Gly422=)
c.1316G= (p.Gly439=)
c.1220G= (p.Gly407=)
c.596G= (p.Gly199=)
c.1409G= (p.Gly470=)
c.1313G= (p.Gly438=)
c.8370+124039C= (n.8370+124039C=)
2g.108897085C>GCA348048075EDAR,RANBP2c.1169G>C (p.Gly390Ala)
c.1265G>C (p.Gly422Ala)
c.1316G>C (p.Gly439Ala)
c.1220G>C (p.Gly407Ala)
c.596G>C (p.Gly199Ala)
c.1409G>C (p.Gly470Ala)
c.1313G>C (p.Gly438Ala)
c.8370+124039C>G (n.8370+124039C>G)
2g.108897085C>TCA348048076EDAR,RANBP2c.1169G>A (p.Gly390Asp)
c.1265G>A (p.Gly422Asp)
c.1316G>A (p.Gly439Asp)
c.1220G>A (p.Gly407Asp)
c.596G>A (p.Gly199Asp)
c.1409G>A (p.Gly470Asp)
c.1313G>A (p.Gly438Asp)
c.8370+124039C>T (n.8370+124039C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108897089dupCA891842934EDAR,RANBP2c.1169dup (p.Met391HisfsTer9)
c.1265dup (p.Met423HisfsTer9)
c.1316dup (p.Met440HisfsTer9)
c.1220dup (p.Met408HisfsTer9)
c.596dup (p.Met200HisfsTer9)
c.1409dup (p.Met471HisfsTer9)
c.1313dup (p.Met439HisfsTer9)
c.8370+124043dup (n.8370+124043dup)
 ClinVar dbSNP
2g.108897089delCA916082193EDAR,RANBP2c.1169del (p.Gly390AlafsTer2)
c.1265del (p.Gly422AlafsTer2)
c.1316del (p.Gly439AlafsTer2)
c.1220del (p.Gly407AlafsTer2)
c.596del (p.Gly199AlafsTer2)
c.1409del (p.Gly470AlafsTer2)
c.1313del (p.Gly438AlafsTer2)
c.8370+124043del (n.8370+124043del)
 ClinVar dbSNP
2g.108897086C>ACA348048077EDAR,RANBP2c.1168G>T (p.Gly390Cys)
c.1264G>T (p.Gly422Cys)
c.1315G>T (p.Gly439Cys)
c.1219G>T (p.Gly407Cys)
c.595G>T (p.Gly199Cys)
c.1408G>T (p.Gly470Cys)
c.1312G>T (p.Gly438Cys)
c.8370+124040C>A (n.8370+124040C>A)
2g.108897086C=CA1278354266EDAR,RANBP2c.1168G= (p.Gly390=)
c.1264G= (p.Gly422=)
c.1315G= (p.Gly439=)
c.1219G= (p.Gly407=)
c.595G= (p.Gly199=)
c.1408G= (p.Gly470=)
c.1312G= (p.Gly438=)
c.8370+124040C= (n.8370+124040C=)
2g.108897086C>GCA348048078EDAR,RANBP2c.1168G>C (p.Gly390Arg)
c.1264G>C (p.Gly422Arg)
c.1315G>C (p.Gly439Arg)
c.1219G>C (p.Gly407Arg)
c.595G>C (p.Gly199Arg)
c.1408G>C (p.Gly470Arg)
c.1312G>C (p.Gly438Arg)
c.8370+124040C>G (n.8370+124040C>G)
2g.108897086C>TCA348048079EDAR,RANBP2c.1168G>A (p.Gly390Ser)
c.1264G>A (p.Gly422Ser)
c.1315G>A (p.Gly439Ser)
c.1219G>A (p.Gly407Ser)
c.595G>A (p.Gly199Ser)
c.1408G>A (p.Gly470Ser)
c.1312G>A (p.Gly438Ser)
c.8370+124040C>T (n.8370+124040C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108897087C>ACA428204120EDAR,RANBP2c.1167G>T (p.Gly389=)
c.1263G>T (p.Gly421=)
c.1314G>T (p.Gly438=)
c.1218G>T (p.Gly406=)
c.594G>T (p.Gly198=)
c.1407G>T (p.Gly469=)
c.1311G>T (p.Gly437=)
c.8370+124041C>A (n.8370+124041C>A)
2g.108897087C=CA1278354267EDAR,RANBP2c.1167G= (p.Gly389=)
c.1263G= (p.Gly421=)
c.1314G= (p.Gly438=)
c.1218G= (p.Gly406=)
c.594G= (p.Gly198=)
c.1407G= (p.Gly469=)
c.1311G= (p.Gly437=)
c.8370+124041C= (n.8370+124041C=)
2g.108897087C>GCA428204121EDAR,RANBP2c.1167G>C (p.Gly389=)
c.1263G>C (p.Gly421=)
c.1314G>C (p.Gly438=)
c.1218G>C (p.Gly406=)
c.594G>C (p.Gly198=)
c.1407G>C (p.Gly469=)
c.1311G>C (p.Gly437=)
c.8370+124041C>G (n.8370+124041C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897087C>TCA428204122EDAR,RANBP2c.1167G>A (p.Gly389=)
c.1263G>A (p.Gly421=)
c.1314G>A (p.Gly438=)
c.1218G>A (p.Gly406=)
c.594G>A (p.Gly198=)
c.1407G>A (p.Gly469=)
c.1311G>A (p.Gly437=)
c.8370+124041C>T (n.8370+124041C>T)
2g.108897088C>ACA348048080EDAR,RANBP2c.1166G>T (p.Gly389Val)
c.1262G>T (p.Gly421Val)
c.1313G>T (p.Gly438Val)
c.1217G>T (p.Gly406Val)
c.593G>T (p.Gly198Val)
c.1406G>T (p.Gly469Val)
c.1310G>T (p.Gly437Val)
c.8370+124042C>A (n.8370+124042C>A)
2g.108897088C=CA1278354268EDAR,RANBP2c.1166G= (p.Gly389=)
c.1262G= (p.Gly421=)
c.1313G= (p.Gly438=)
c.1217G= (p.Gly406=)
c.593G= (p.Gly198=)
c.1406G= (p.Gly469=)
c.1310G= (p.Gly437=)
c.8370+124042C= (n.8370+124042C=)
2g.108897088C>GCA1824805EDAR,RANBP2c.1166G>C (p.Gly389Ala)
c.1262G>C (p.Gly421Ala)
c.1313G>C (p.Gly438Ala)
c.1217G>C (p.Gly406Ala)
c.593G>C (p.Gly198Ala)
c.1406G>C (p.Gly469Ala)
c.1310G>C (p.Gly437Ala)
c.8370+124042C>G (n.8370+124042C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897088C>TCA348048081EDAR,RANBP2c.1166G>A (p.Gly389Glu)
c.1262G>A (p.Gly421Glu)
c.1313G>A (p.Gly438Glu)
c.1217G>A (p.Gly406Glu)
c.593G>A (p.Gly198Glu)
c.1406G>A (p.Gly469Glu)
c.1310G>A (p.Gly437Glu)
c.8370+124042C>T (n.8370+124042C>T)
2g.108897089C>ACA348048082EDAR,RANBP2c.1165G>T (p.Gly389Trp)
c.1261G>T (p.Gly421Trp)
c.1312G>T (p.Gly438Trp)
c.1216G>T (p.Gly406Trp)
c.592G>T (p.Gly198Trp)
c.1405G>T (p.Gly469Trp)
c.1309G>T (p.Gly437Trp)
c.8370+124043C>A (n.8370+124043C>A)
2g.108897089C=CA1278354269EDAR,RANBP2c.1165G= (p.Gly389=)
c.1261G= (p.Gly421=)
c.1312G= (p.Gly438=)
c.1216G= (p.Gly406=)
c.592G= (p.Gly198=)
c.1405G= (p.Gly469=)
c.1309G= (p.Gly437=)
c.8370+124043C= (n.8370+124043C=)
2g.108897089C>GCA348048083EDAR,RANBP2c.1165G>C (p.Gly389Arg)
c.1261G>C (p.Gly421Arg)
c.1312G>C (p.Gly438Arg)
c.1216G>C (p.Gly406Arg)
c.592G>C (p.Gly198Arg)
c.1405G>C (p.Gly469Arg)
c.1309G>C (p.Gly437Arg)
c.8370+124043C>G (n.8370+124043C>G)
2g.108897089C>TCA1824806EDAR,RANBP2c.1165G>A (p.Gly389Arg)
c.1261G>A (p.Gly421Arg)
c.1312G>A (p.Gly438Arg)
c.1216G>A (p.Gly406Arg)
c.592G>A (p.Gly198Arg)
c.1405G>A (p.Gly469Arg)
c.1309G>A (p.Gly437Arg)
c.8370+124043C>T (n.8370+124043C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897090A>CCA348048084EDAR,RANBP2c.1164T>G (p.Ile388Met)
c.1260T>G (p.Ile420Met)
c.1311T>G (p.Ile437Met)
c.1215T>G (p.Ile405Met)
c.591T>G (p.Ile197Met)
c.1404T>G (p.Ile468Met)
c.1308T>G (p.Ile436Met)
c.8370+124044A>C (n.8370+124044A>C)
2g.108897090A>GCA428204127EDAR,RANBP2c.1164T>C (p.Ile388=)
c.1260T>C (p.Ile420=)
c.1311T>C (p.Ile437=)
c.1215T>C (p.Ile405=)
c.591T>C (p.Ile197=)
c.1404T>C (p.Ile468=)
c.1308T>C (p.Ile436=)
c.8370+124044A>G (n.8370+124044A>G)
2g.108897090A>TCA428204128EDAR,RANBP2c.1164T>A (p.Ile388=)
c.1260T>A (p.Ile420=)
c.1311T>A (p.Ile437=)
c.1215T>A (p.Ile405=)
c.591T>A (p.Ile197=)
c.1404T>A (p.Ile468=)
c.1308T>A (p.Ile436=)
c.8370+124044A>T (n.8370+124044A>T)
2g.108897091A=CA1278354270EDAR,RANBP2c.1163T= (p.Ile388=)
c.1259T= (p.Ile420=)
c.1310T= (p.Ile437=)
c.1214T= (p.Ile405=)
c.590T= (p.Ile197=)
c.1403T= (p.Ile468=)
c.1307T= (p.Ile436=)
c.8370+124045A= (n.8370+124045A=)
2g.108897091A>CCA348048085EDAR,RANBP2c.1163T>G (p.Ile388Ser)
c.1259T>G (p.Ile420Ser)
c.1310T>G (p.Ile437Ser)
c.1214T>G (p.Ile405Ser)
c.590T>G (p.Ile197Ser)
c.1403T>G (p.Ile468Ser)
c.1307T>G (p.Ile436Ser)
c.8370+124045A>C (n.8370+124045A>C)
2g.108897091A>GCA53464780EDAR,RANBP2c.1163T>C (p.Ile388Thr)
c.1259T>C (p.Ile420Thr)
c.1310T>C (p.Ile437Thr)
c.1214T>C (p.Ile405Thr)
c.590T>C (p.Ile197Thr)
c.1403T>C (p.Ile468Thr)
c.1307T>C (p.Ile436Thr)
c.8370+124045A>G (n.8370+124045A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897091A>TCA348048086EDAR,RANBP2c.1163T>A (p.Ile388Asn)
c.1259T>A (p.Ile420Asn)
c.1310T>A (p.Ile437Asn)
c.1214T>A (p.Ile405Asn)
c.590T>A (p.Ile197Asn)
c.1403T>A (p.Ile468Asn)
c.1307T>A (p.Ile436Asn)
c.8370+124045A>T (n.8370+124045A>T)
2g.108897092T>ACA348048087EDAR,RANBP2c.1162A>T (p.Ile388Phe)
c.1258A>T (p.Ile420Phe)
c.1309A>T (p.Ile437Phe)
c.1213A>T (p.Ile405Phe)
c.589A>T (p.Ile197Phe)
c.1402A>T (p.Ile468Phe)
c.1306A>T (p.Ile436Phe)
c.8370+124046T>A (n.8370+124046T>A)
2g.108897092T>CCA348048088EDAR,RANBP2c.1162A>G (p.Ile388Val)
c.1258A>G (p.Ile420Val)
c.1309A>G (p.Ile437Val)
c.1213A>G (p.Ile405Val)
c.589A>G (p.Ile197Val)
c.1402A>G (p.Ile468Val)
c.1306A>G (p.Ile436Val)
c.8370+124046T>C (n.8370+124046T>C)
 dbSNP gnomAD v4
2g.108897092T>GCA348048089EDAR,RANBP2c.1162A>C (p.Ile388Leu)
c.1258A>C (p.Ile420Leu)
c.1309A>C (p.Ile437Leu)
c.1213A>C (p.Ile405Leu)
c.589A>C (p.Ile197Leu)
c.1402A>C (p.Ile468Leu)
c.1306A>C (p.Ile436Leu)
c.8370+124046T>G (n.8370+124046T>G)
 gnomAD v4
2g.108897093C>ACA348048090EDAR,RANBP2c.1161G>T (p.Glu387Asp)
c.1257G>T (p.Glu419Asp)
c.1308G>T (p.Glu436Asp)
c.1212G>T (p.Glu404Asp)
c.588G>T (p.Glu196Asp)
c.1401G>T (p.Glu467Asp)
c.1305G>T (p.Glu435Asp)
c.8370+124047C>A (n.8370+124047C>A)
 COSMIC COSMIC
2g.108897093C>GCA348048091EDAR,RANBP2c.1161G>C (p.Glu387Asp)
c.1257G>C (p.Glu419Asp)
c.1308G>C (p.Glu436Asp)
c.1212G>C (p.Glu404Asp)
c.588G>C (p.Glu196Asp)
c.1401G>C (p.Glu467Asp)
c.1305G>C (p.Glu435Asp)
c.8370+124047C>G (n.8370+124047C>G)
2g.108897093C>TCA428204129EDAR,RANBP2c.1161G>A (p.Glu387=)
c.1257G>A (p.Glu419=)
c.1308G>A (p.Glu436=)
c.1212G>A (p.Glu404=)
c.588G>A (p.Glu196=)
c.1401G>A (p.Glu467=)
c.1305G>A (p.Glu435=)
c.8370+124047C>T (n.8370+124047C>T)
 COSMIC COSMIC
2g.108897094T>ACA348048092EDAR,RANBP2c.1160A>T (p.Glu387Val)
c.1256A>T (p.Glu419Val)
c.1307A>T (p.Glu436Val)
c.1211A>T (p.Glu404Val)
c.587A>T (p.Glu196Val)
c.1400A>T (p.Glu467Val)
c.1304A>T (p.Glu435Val)
c.8370+124048T>A (n.8370+124048T>A)
2g.108897094T>CCA348048093EDAR,RANBP2c.1160A>G (p.Glu387Gly)
c.1256A>G (p.Glu419Gly)
c.1307A>G (p.Glu436Gly)
c.1211A>G (p.Glu404Gly)
c.587A>G (p.Glu196Gly)
c.1400A>G (p.Glu467Gly)
c.1304A>G (p.Glu435Gly)
c.8370+124048T>C (n.8370+124048T>C)
2g.108897094T>GCA348048094EDAR,RANBP2c.1160A>C (p.Glu387Ala)
c.1256A>C (p.Glu419Ala)
c.1307A>C (p.Glu436Ala)
c.1211A>C (p.Glu404Ala)
c.587A>C (p.Glu196Ala)
c.1400A>C (p.Glu467Ala)
c.1304A>C (p.Glu435Ala)
c.8370+124048T>G (n.8370+124048T>G)
2g.108897095C>ACA348048095EDAR,RANBP2c.1159G>T (p.Glu387Ter)
c.1255G>T (p.Glu419Ter)
c.1306G>T (p.Glu436Ter)
c.1210G>T (p.Glu404Ter)
c.586G>T (p.Glu196Ter)
c.1399G>T (p.Glu467Ter)
c.1303G>T (p.Glu435Ter)
c.8370+124049C>A (n.8370+124049C>A)
2g.108897095C>GCA348048096EDAR,RANBP2c.1159G>C (p.Glu387Gln)
c.1255G>C (p.Glu419Gln)
c.1306G>C (p.Glu436Gln)
c.1210G>C (p.Glu404Gln)
c.586G>C (p.Glu196Gln)
c.1399G>C (p.Glu467Gln)
c.1303G>C (p.Glu435Gln)
c.8370+124049C>G (n.8370+124049C>G)
2g.108897095C>TCA348048097EDAR,RANBP2c.1159G>A (p.Glu387Lys)
c.1255G>A (p.Glu419Lys)
c.1306G>A (p.Glu436Lys)
c.1210G>A (p.Glu404Lys)
c.586G>A (p.Glu196Lys)
c.1399G>A (p.Glu467Lys)
c.1303G>A (p.Glu435Lys)
c.8370+124049C>T (n.8370+124049C>T)
2g.108897096A>CCA348048099EDAR,RANBP2c.1158T>G (p.Asp386Glu)
c.1254T>G (p.Asp418Glu)
c.1305T>G (p.Asp435Glu)
c.1209T>G (p.Asp403Glu)
c.585T>G (p.Asp195Glu)
c.1398T>G (p.Asp466Glu)
c.1302T>G (p.Asp434Glu)
c.8370+124050A>C (n.8370+124050A>C)
2g.108897096A>GCA428204130EDAR,RANBP2c.1158T>C (p.Asp386=)
c.1254T>C (p.Asp418=)
c.1305T>C (p.Asp435=)
c.1209T>C (p.Asp403=)
c.585T>C (p.Asp195=)
c.1398T>C (p.Asp466=)
c.1302T>C (p.Asp434=)
c.8370+124050A>G (n.8370+124050A>G)
2g.108897096A>TCA348048098EDAR,RANBP2c.1158T>A (p.Asp386Glu)
c.1254T>A (p.Asp418Glu)
c.1305T>A (p.Asp435Glu)
c.1209T>A (p.Asp403Glu)
c.585T>A (p.Asp195Glu)
c.1398T>A (p.Asp466Glu)
c.1302T>A (p.Asp434Glu)
c.8370+124050A>T (n.8370+124050A>T)
2g.108897097T>ACA348048100EDAR,RANBP2c.1157A>T (p.Asp386Val)
c.1253A>T (p.Asp418Val)
c.1304A>T (p.Asp435Val)
c.1208A>T (p.Asp403Val)
c.584A>T (p.Asp195Val)
c.1397A>T (p.Asp466Val)
c.1301A>T (p.Asp434Val)
c.8370+124051T>A (n.8370+124051T>A)
2g.108897097T>CCA1824807EDAR,RANBP2c.1157A>G (p.Asp386Gly)
c.1253A>G (p.Asp418Gly)
c.1304A>G (p.Asp435Gly)
c.1208A>G (p.Asp403Gly)
c.584A>G (p.Asp195Gly)
c.1397A>G (p.Asp466Gly)
c.1301A>G (p.Asp434Gly)
c.8370+124051T>C (n.8370+124051T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897097T>GCA348048101EDAR,RANBP2c.1157A>C (p.Asp386Ala)
c.1253A>C (p.Asp418Ala)
c.1304A>C (p.Asp435Ala)
c.1208A>C (p.Asp403Ala)
c.584A>C (p.Asp195Ala)
c.1397A>C (p.Asp466Ala)
c.1301A>C (p.Asp434Ala)
c.8370+124051T>G (n.8370+124051T>G)
 gnomAD v4
2g.108897097T=CA1278354271EDAR,RANBP2c.1157A= (p.Asp386=)
c.1253A= (p.Asp418=)
c.1304A= (p.Asp435=)
c.1208A= (p.Asp403=)
c.584A= (p.Asp195=)
c.1397A= (p.Asp466=)
c.1301A= (p.Asp434=)
c.8370+124051T= (n.8370+124051T=)
2g.108897098C>ACA348048102EDAR,RANBP2c.1156G>T (p.Asp386Tyr)
c.1252G>T (p.Asp418Tyr)
c.1303G>T (p.Asp435Tyr)
c.1207G>T (p.Asp403Tyr)
c.583G>T (p.Asp195Tyr)
c.1396G>T (p.Asp466Tyr)
c.1300G>T (p.Asp434Tyr)
c.8370+124052C>A (n.8370+124052C>A)
 gnomAD v4
2g.108897098C=CA1278354272EDAR,RANBP2c.1156G= (p.Asp386=)
c.1252G= (p.Asp418=)
c.1303G= (p.Asp435=)
c.1207G= (p.Asp403=)
c.583G= (p.Asp195=)
c.1396G= (p.Asp466=)
c.1300G= (p.Asp434=)
c.8370+124052C= (n.8370+124052C=)
2g.108897098C>GCA348048103EDAR,RANBP2c.1156G>C (p.Asp386His)
c.1252G>C (p.Asp418His)
c.1303G>C (p.Asp435His)
c.1207G>C (p.Asp403His)
c.583G>C (p.Asp195His)
c.1396G>C (p.Asp466His)
c.1300G>C (p.Asp434His)
c.8370+124052C>G (n.8370+124052C>G)
 COSMIC COSMIC
2g.108897098C>TCA1824808EDAR,RANBP2c.1156G>A (p.Asp386Asn)
c.1252G>A (p.Asp418Asn)
c.1303G>A (p.Asp435Asn)
c.1207G>A (p.Asp403Asn)
c.583G>A (p.Asp195Asn)
c.1396G>A (p.Asp466Asn)
c.1300G>A (p.Asp434Asn)
c.8370+124052C>T (n.8370+124052C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897099C>ACA348048104EDAR,RANBP2c.1155G>T (p.Arg385Ser)
c.1251G>T (p.Arg417Ser)
c.1302G>T (p.Arg434Ser)
c.1206G>T (p.Arg402Ser)
c.582G>T (p.Arg194Ser)
c.1395G>T (p.Arg465Ser)
c.1299G>T (p.Arg433Ser)
c.8370+124053C>A (n.8370+124053C>A)
 gnomAD v4
2g.108897099C>GCA348048105EDAR,RANBP2c.1155G>C (p.Arg385Ser)
c.1251G>C (p.Arg417Ser)
c.1302G>C (p.Arg434Ser)
c.1206G>C (p.Arg402Ser)
c.582G>C (p.Arg194Ser)
c.1395G>C (p.Arg465Ser)
c.1299G>C (p.Arg433Ser)
c.8370+124053C>G (n.8370+124053C>G)
2g.108897099C>TCA428204132EDAR,RANBP2c.1155G>A (p.Arg385=)
c.1251G>A (p.Arg417=)
c.1302G>A (p.Arg434=)
c.1206G>A (p.Arg402=)
c.582G>A (p.Arg194=)
c.1395G>A (p.Arg465=)
c.1299G>A (p.Arg433=)
c.8370+124053C>T (n.8370+124053C>T)
 gnomAD v4 COSMIC COSMIC
2g.108897100C>ACA348048106EDAR,RANBP2c.1154G>T (p.Arg385Met)
c.1250G>T (p.Arg417Met)
c.1301G>T (p.Arg434Met)
c.1205G>T (p.Arg402Met)
c.581G>T (p.Arg194Met)
c.1394G>T (p.Arg465Met)
c.1298G>T (p.Arg433Met)
c.8370+124054C>A (n.8370+124054C>A)
2g.108897100C=CA1278354273EDAR,RANBP2c.1154G= (p.Arg385=)
c.1250G= (p.Arg417=)
c.1301G= (p.Arg434=)
c.1205G= (p.Arg402=)
c.581G= (p.Arg194=)
c.1394G= (p.Arg465=)
c.1298G= (p.Arg433=)
c.8370+124054C= (n.8370+124054C=)
2g.108897100C>GCA348048107EDAR,RANBP2c.1154G>C (p.Arg385Thr)
c.1250G>C (p.Arg417Thr)
c.1301G>C (p.Arg434Thr)
c.1205G>C (p.Arg402Thr)
c.581G>C (p.Arg194Thr)
c.1394G>C (p.Arg465Thr)
c.1298G>C (p.Arg433Thr)
c.8370+124054C>G (n.8370+124054C>G)
2g.108897100C>TCA348048108EDAR,RANBP2c.1154G>A (p.Arg385Lys)
c.1250G>A (p.Arg417Lys)
c.1301G>A (p.Arg434Lys)
c.1205G>A (p.Arg402Lys)
c.581G>A (p.Arg194Lys)
c.1394G>A (p.Arg465Lys)
c.1298G>A (p.Arg433Lys)
c.8370+124054C>T (n.8370+124054C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108897100_108897103dupCA2580611685EDAR,RANBP2c.1151_1154dup (p.Asp386GlufsTer3)
c.1247_1250dup (p.Asp418GlufsTer3)
c.1298_1301dup (p.Asp435GlufsTer3)
c.1202_1205dup (p.Asp403GlufsTer3)
c.578_581dup (p.Asp195GlufsTer3)
c.1391_1394dup (p.Asp466GlufsTer3)
c.1295_1298dup (p.Asp434GlufsTer3)
c.8370+124054_8370+124057dup (n.8370+124054_8370+124057dup)
 ClinVar dbSNP
2g.108897101T>ACA348048109EDAR,RANBP2c.1153A>T (p.Arg385Trp)
c.1249A>T (p.Arg417Trp)
c.1300A>T (p.Arg434Trp)
c.1204A>T (p.Arg402Trp)
c.580A>T (p.Arg194Trp)
c.1393A>T (p.Arg465Trp)
c.1297A>T (p.Arg433Trp)
c.8370+124055T>A (n.8370+124055T>A)
2g.108897101T>CCA348048110EDAR,RANBP2c.1153A>G (p.Arg385Gly)
c.1249A>G (p.Arg417Gly)
c.1300A>G (p.Arg434Gly)
c.1204A>G (p.Arg402Gly)
c.580A>G (p.Arg194Gly)
c.1393A>G (p.Arg465Gly)
c.1297A>G (p.Arg433Gly)
c.8370+124055T>C (n.8370+124055T>C)
 gnomAD v4
2g.108897101T>GCA428204133EDAR,RANBP2c.1153A>C (p.Arg385=)
c.1249A>C (p.Arg417=)
c.1300A>C (p.Arg434=)
c.1204A>C (p.Arg402=)
c.580A>C (p.Arg194=)
c.1393A>C (p.Arg465=)
c.1297A>C (p.Arg433=)
c.8370+124055T>G (n.8370+124055T>G)
2g.108897102C>ACA348048111EDAR,RANBP2c.1152G>T (p.Lys384Asn)
c.1248G>T (p.Lys416Asn)
c.1299G>T (p.Lys433Asn)
c.1203G>T (p.Lys401Asn)
c.579G>T (p.Lys193Asn)
c.1392G>T (p.Lys464Asn)
c.1296G>T (p.Lys432Asn)
c.8370+124056C>A (n.8370+124056C>A)
2g.108897102C=CA1278354274EDAR,RANBP2c.1152G= (p.Lys384=)
c.1248G= (p.Lys416=)
c.1299G= (p.Lys433=)
c.1203G= (p.Lys401=)
c.579G= (p.Lys193=)
c.1392G= (p.Lys464=)
c.1296G= (p.Lys432=)
c.8370+124056C= (n.8370+124056C=)
2g.108897102C>GCA348048112EDAR,RANBP2c.1152G>C (p.Lys384Asn)
c.1248G>C (p.Lys416Asn)
c.1299G>C (p.Lys433Asn)
c.1203G>C (p.Lys401Asn)
c.579G>C (p.Lys193Asn)
c.1392G>C (p.Lys464Asn)
c.1296G>C (p.Lys432Asn)
c.8370+124056C>G (n.8370+124056C>G)
2g.108897102C>TCA428204134EDAR,RANBP2c.1152G>A (p.Lys384=)
c.1248G>A (p.Lys416=)
c.1299G>A (p.Lys433=)
c.1203G>A (p.Lys401=)
c.579G>A (p.Lys193=)
c.1392G>A (p.Lys464=)
c.1296G>A (p.Lys432=)
c.8370+124056C>T (n.8370+124056C>T)
 dbSNP
2g.108897103T>ACA348048115EDAR,RANBP2c.1151A>T (p.Lys384Met)
c.1247A>T (p.Lys416Met)
c.1298A>T (p.Lys433Met)
c.1202A>T (p.Lys401Met)
c.578A>T (p.Lys193Met)
c.1391A>T (p.Lys464Met)
c.1295A>T (p.Lys432Met)
c.8370+124057T>A (n.8370+124057T>A)
2g.108897103T>CCA348048113EDAR,RANBP2c.1151A>G (p.Lys384Arg)
c.1247A>G (p.Lys416Arg)
c.1298A>G (p.Lys433Arg)
c.1202A>G (p.Lys401Arg)
c.578A>G (p.Lys193Arg)
c.1391A>G (p.Lys464Arg)
c.1295A>G (p.Lys432Arg)
c.8370+124057T>C (n.8370+124057T>C)
2g.108897103T>GCA348048114EDAR,RANBP2c.1151A>C (p.Lys384Thr)
c.1247A>C (p.Lys416Thr)
c.1298A>C (p.Lys433Thr)
c.1202A>C (p.Lys401Thr)
c.578A>C (p.Lys193Thr)
c.1391A>C (p.Lys464Thr)
c.1295A>C (p.Lys432Thr)
c.8370+124057T>G (n.8370+124057T>G)
2g.108897104T>ACA348048116EDAR,RANBP2c.1150A>T (p.Lys384Ter)
c.1246A>T (p.Lys416Ter)
c.1297A>T (p.Lys433Ter)
c.1201A>T (p.Lys401Ter)
c.577A>T (p.Lys193Ter)
c.1390A>T (p.Lys464Ter)
c.1294A>T (p.Lys432Ter)
c.8370+124058T>A (n.8370+124058T>A)
2g.108897104T>CCA348048117EDAR,RANBP2c.1150A>G (p.Lys384Glu)
c.1246A>G (p.Lys416Glu)
c.1297A>G (p.Lys433Glu)
c.1201A>G (p.Lys401Glu)
c.577A>G (p.Lys193Glu)
c.1390A>G (p.Lys464Glu)
c.1294A>G (p.Lys432Glu)
c.8370+124058T>C (n.8370+124058T>C)
2g.108897104T>GCA348048118EDAR,RANBP2c.1150A>C (p.Lys384Gln)
c.1246A>C (p.Lys416Gln)
c.1297A>C (p.Lys433Gln)
c.1201A>C (p.Lys401Gln)
c.577A>C (p.Lys193Gln)
c.1390A>C (p.Lys464Gln)
c.1294A>C (p.Lys432Gln)
c.8370+124058T>G (n.8370+124058T>G)
2g.108897105C>ACA428204135EDAR,RANBP2c.1149G>T (p.Leu383=)
c.1245G>T (p.Leu415=)
c.1296G>T (p.Leu432=)
c.1200G>T (p.Leu400=)
c.576G>T (p.Leu192=)
c.1389G>T (p.Leu463=)
c.1293G>T (p.Leu431=)
c.8370+124059C>A (n.8370+124059C>A)
2g.108897105C=CA1278354275EDAR,RANBP2c.1149G= (p.Leu383=)
c.1245G= (p.Leu415=)
c.1296G= (p.Leu432=)
c.1200G= (p.Leu400=)
c.576G= (p.Leu192=)
c.1389G= (p.Leu463=)
c.1293G= (p.Leu431=)
c.8370+124059C= (n.8370+124059C=)
2g.108897105C>GCA428204136EDAR,RANBP2c.1149G>C (p.Leu383=)
c.1245G>C (p.Leu415=)
c.1296G>C (p.Leu432=)
c.1200G>C (p.Leu400=)
c.576G>C (p.Leu192=)
c.1389G>C (p.Leu463=)
c.1293G>C (p.Leu431=)
c.8370+124059C>G (n.8370+124059C>G)
2g.108897105C>TCA53464798EDAR,RANBP2c.1149G>A (p.Leu383=)
c.1245G>A (p.Leu415=)
c.1296G>A (p.Leu432=)
c.1200G>A (p.Leu400=)
c.576G>A (p.Leu192=)
c.1389G>A (p.Leu463=)
c.1293G>A (p.Leu431=)
c.8370+124059C>T (n.8370+124059C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897106_108897109delCA2586969741EDAR,RANBP2c.1146_1149del (p.Leu383ArgfsTer8)
c.1242_1245del (p.Leu415ArgfsTer8)
c.1293_1296del (p.Leu432ArgfsTer8)
c.1197_1200del (p.Leu400ArgfsTer8)
c.573_576del (p.Leu192ArgfsTer8)
c.1386_1389del (p.Leu463ArgfsTer8)
c.1290_1293del (p.Leu431ArgfsTer8)
c.8370+124060_8370+124063del (n.8370+124060_8370+124063del)
2g.108897106A>CCA348048119EDAR,RANBP2c.1148T>G (p.Leu383Arg)
c.1244T>G (p.Leu415Arg)
c.1295T>G (p.Leu432Arg)
c.1199T>G (p.Leu400Arg)
c.575T>G (p.Leu192Arg)
c.1388T>G (p.Leu463Arg)
c.1292T>G (p.Leu431Arg)
c.8370+124060A>C (n.8370+124060A>C)
2g.108897106A>GCA348048120EDAR,RANBP2c.1148T>C (p.Leu383Pro)
c.1244T>C (p.Leu415Pro)
c.1295T>C (p.Leu432Pro)
c.1199T>C (p.Leu400Pro)
c.575T>C (p.Leu192Pro)
c.1388T>C (p.Leu463Pro)
c.1292T>C (p.Leu431Pro)
c.8370+124060A>G (n.8370+124060A>G)
 ClinVar
2g.108897106A>TCA348048121EDAR,RANBP2c.1148T>A (p.Leu383Gln)
c.1244T>A (p.Leu415Gln)
c.1295T>A (p.Leu432Gln)
c.1199T>A (p.Leu400Gln)
c.575T>A (p.Leu192Gln)
c.1388T>A (p.Leu463Gln)
c.1292T>A (p.Leu431Gln)
c.8370+124060A>T (n.8370+124060A>T)
2g.108897107G>ACA428204138EDAR,RANBP2c.1147C>T (p.Leu383=)
c.1243C>T (p.Leu415=)
c.1294C>T (p.Leu432=)
c.1198C>T (p.Leu400=)
c.574C>T (p.Leu192=)
c.1387C>T (p.Leu463=)
c.1291C>T (p.Leu431=)
c.8370+124061G>A (n.8370+124061G>A)
2g.108897107G>CCA348048122EDAR,RANBP2c.1147C>G (p.Leu383Val)
c.1243C>G (p.Leu415Val)
c.1294C>G (p.Leu432Val)
c.1198C>G (p.Leu400Val)
c.574C>G (p.Leu192Val)
c.1387C>G (p.Leu463Val)
c.1291C>G (p.Leu431Val)
c.8370+124061G>C (n.8370+124061G>C)
2g.108897107G>TCA348048123EDAR,RANBP2c.1147C>A (p.Leu383Met)
c.1243C>A (p.Leu415Met)
c.1294C>A (p.Leu432Met)
c.1198C>A (p.Leu400Met)
c.574C>A (p.Leu192Met)
c.1387C>A (p.Leu463Met)
c.1291C>A (p.Leu431Met)
c.8370+124061G>T (n.8370+124061G>T)
2g.108897108G>ACA428204139EDAR,RANBP2c.1146C>T (p.Gly382=)
c.1242C>T (p.Gly414=)
c.1293C>T (p.Gly431=)
c.1197C>T (p.Gly399=)
c.573C>T (p.Gly191=)
c.1386C>T (p.Gly462=)
c.1290C>T (p.Gly430=)
c.8370+124062G>A (n.8370+124062G>A)
2g.108897108G>CCA428204140EDAR,RANBP2c.1146C>G (p.Gly382=)
c.1242C>G (p.Gly414=)
c.1293C>G (p.Gly431=)
c.1197C>G (p.Gly399=)
c.573C>G (p.Gly191=)
c.1386C>G (p.Gly462=)
c.1290C>G (p.Gly430=)
c.8370+124062G>C (n.8370+124062G>C)
2g.108897108G>TCA428204141EDAR,RANBP2c.1146C>A (p.Gly382=)
c.1242C>A (p.Gly414=)
c.1293C>A (p.Gly431=)
c.1197C>A (p.Gly399=)
c.573C>A (p.Gly191=)
c.1386C>A (p.Gly462=)
c.1290C>A (p.Gly430=)
c.8370+124062G>T (n.8370+124062G>T)
2g.108897109C>ACA348048124EDAR,RANBP2c.1145G>T (p.Gly382Val)
c.1241G>T (p.Gly414Val)
c.1292G>T (p.Gly431Val)
c.1196G>T (p.Gly399Val)
c.572G>T (p.Gly191Val)
c.1385G>T (p.Gly462Val)
c.1289G>T (p.Gly430Val)
c.8370+124063C>A (n.8370+124063C>A)
2g.108897109C=CA1278354276EDAR,RANBP2c.1145G= (p.Gly382=)
c.1241G= (p.Gly414=)
c.1292G= (p.Gly431=)
c.1196G= (p.Gly399=)
c.572G= (p.Gly191=)
c.1385G= (p.Gly462=)
c.1289G= (p.Gly430=)
c.8370+124063C= (n.8370+124063C=)
2g.108897109C>GCA348048125EDAR,RANBP2c.1145G>C (p.Gly382Ala)
c.1241G>C (p.Gly414Ala)
c.1292G>C (p.Gly431Ala)
c.1196G>C (p.Gly399Ala)
c.572G>C (p.Gly191Ala)
c.1385G>C (p.Gly462Ala)
c.1289G>C (p.Gly430Ala)
c.8370+124063C>G (n.8370+124063C>G)
2g.108897109C>TCA348048126EDAR,RANBP2c.1145G>A (p.Gly382Asp)
c.1241G>A (p.Gly414Asp)
c.1292G>A (p.Gly431Asp)
c.1196G>A (p.Gly399Asp)
c.572G>A (p.Gly191Asp)
c.1385G>A (p.Gly462Asp)
c.1289G>A (p.Gly430Asp)
c.8370+124063C>T (n.8370+124063C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108897110C>ACA348048128EDAR,RANBP2c.1144G>T (p.Gly382Cys)
c.1240G>T (p.Gly414Cys)
c.1291G>T (p.Gly431Cys)
c.1195G>T (p.Gly399Cys)
c.571G>T (p.Gly191Cys)
c.1384G>T (p.Gly462Cys)
c.1288G>T (p.Gly430Cys)
c.8370+124064C>A (n.8370+124064C>A)
2g.108897110C=CA1278354277EDAR,RANBP2c.1144G= (p.Gly382=)
c.1240G= (p.Gly414=)
c.1291G= (p.Gly431=)
c.1195G= (p.Gly399=)
c.571G= (p.Gly191=)
c.1384G= (p.Gly462=)
c.1288G= (p.Gly430=)
c.8370+124064C= (n.8370+124064C=)
2g.108897110C>GCA348048127EDAR,RANBP2c.1144G>C (p.Gly382Arg)
c.1240G>C (p.Gly414Arg)
c.1291G>C (p.Gly431Arg)
c.1195G>C (p.Gly399Arg)
c.571G>C (p.Gly191Arg)
c.1384G>C (p.Gly462Arg)
c.1288G>C (p.Gly430Arg)
c.8370+124064C>G (n.8370+124064C>G)
2g.108897110C>TCA274979EDAR,RANBP2c.1144G>A (p.Gly382Ser)
c.1240G>A (p.Gly414Ser)
c.1291G>A (p.Gly431Ser)
c.1195G>A (p.Gly399Ser)
c.571G>A (p.Gly191Ser)
c.1384G>A (p.Gly462Ser)
c.1288G>A (p.Gly430Ser)
c.8370+124064C>T (n.8370+124064C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897111G>ACA1824809EDAR,RANBP2c.1143C>T (p.Phe381=)
c.1239C>T (p.Phe413=)
c.1290C>T (p.Phe430=)
c.1194C>T (p.Phe398=)
c.570C>T (p.Phe190=)
c.1383C>T (p.Phe461=)
c.1287C>T (p.Phe429=)
c.8370+124065G>A (n.8370+124065G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897111G>CCA348048129EDAR,RANBP2c.1143C>G (p.Phe381Leu)
c.1239C>G (p.Phe413Leu)
c.1290C>G (p.Phe430Leu)
c.1194C>G (p.Phe398Leu)
c.570C>G (p.Phe190Leu)
c.1383C>G (p.Phe461Leu)
c.1287C>G (p.Phe429Leu)
c.8370+124065G>C (n.8370+124065G>C)
2g.108897111G=CA1278354278EDAR,RANBP2c.1143C= (p.Phe381=)
c.1239C= (p.Phe413=)
c.1290C= (p.Phe430=)
c.1194C= (p.Phe398=)
c.570C= (p.Phe190=)
c.1383C= (p.Phe461=)
c.1287C= (p.Phe429=)
c.8370+124065G= (n.8370+124065G=)
2g.108897111G>TCA348048130EDAR,RANBP2c.1143C>A (p.Phe381Leu)
c.1239C>A (p.Phe413Leu)
c.1290C>A (p.Phe430Leu)
c.1194C>A (p.Phe398Leu)
c.570C>A (p.Phe190Leu)
c.1383C>A (p.Phe461Leu)
c.1287C>A (p.Phe429Leu)
c.8370+124065G>T (n.8370+124065G>T)
2g.108897112A=CA1278354279EDAR,RANBP2c.1142T= (p.Phe381=)
c.1238T= (p.Phe413=)
c.1289T= (p.Phe430=)
c.1193T= (p.Phe398=)
c.569T= (p.Phe190=)
c.1382T= (p.Phe461=)
c.1286T= (p.Phe429=)
c.8370+124066A= (n.8370+124066A=)
2g.108897112A>CCA348048131EDAR,RANBP2c.1142T>G (p.Phe381Cys)
c.1238T>G (p.Phe413Cys)
c.1289T>G (p.Phe430Cys)
c.1193T>G (p.Phe398Cys)
c.569T>G (p.Phe190Cys)
c.1382T>G (p.Phe461Cys)
c.1286T>G (p.Phe429Cys)
c.8370+124066A>C (n.8370+124066A>C)
2g.108897112A>GCA348048132EDAR,RANBP2c.1142T>C (p.Phe381Ser)
c.1238T>C (p.Phe413Ser)
c.1289T>C (p.Phe430Ser)
c.1193T>C (p.Phe398Ser)
c.569T>C (p.Phe190Ser)
c.1382T>C (p.Phe461Ser)
c.1286T>C (p.Phe429Ser)
c.8370+124066A>G (n.8370+124066A>G)
 ClinVar dbSNP
2g.108897112A>TCA348048133EDAR,RANBP2c.1142T>A (p.Phe381Tyr)
c.1238T>A (p.Phe413Tyr)
c.1289T>A (p.Phe430Tyr)
c.1193T>A (p.Phe398Tyr)
c.569T>A (p.Phe190Tyr)
c.1382T>A (p.Phe461Tyr)
c.1286T>A (p.Phe429Tyr)
c.8370+124066A>T (n.8370+124066A>T)
2g.108897113A>CCA348048134EDAR,RANBP2c.1141T>G (p.Phe381Val)
c.1237T>G (p.Phe413Val)
c.1288T>G (p.Phe430Val)
c.1192T>G (p.Phe398Val)
c.568T>G (p.Phe190Val)
c.1381T>G (p.Phe461Val)
c.1285T>G (p.Phe429Val)
c.8370+124067A>C (n.8370+124067A>C)
2g.108897113A>GCA348048135EDAR,RANBP2c.1141T>C (p.Phe381Leu)
c.1237T>C (p.Phe413Leu)
c.1288T>C (p.Phe430Leu)
c.1192T>C (p.Phe398Leu)
c.568T>C (p.Phe190Leu)
c.1381T>C (p.Phe461Leu)
c.1285T>C (p.Phe429Leu)
c.8370+124067A>G (n.8370+124067A>G)
2g.108897113A>TCA348048136EDAR,RANBP2c.1141T>A (p.Phe381Ile)
c.1237T>A (p.Phe413Ile)
c.1288T>A (p.Phe430Ile)
c.1192T>A (p.Phe398Ile)
c.568T>A (p.Phe190Ile)
c.1381T>A (p.Phe461Ile)
c.1285T>A (p.Phe429Ile)
c.8370+124067A>T (n.8370+124067A>T)
2g.108897114G>ACA1824810EDAR,RANBP2c.1140C>T (p.Ser380=)
c.1236C>T (p.Ser412=)
c.1287C>T (p.Ser429=)
c.1191C>T (p.Ser397=)
c.567C>T (p.Ser189=)
c.1380C>T (p.Ser460=)
c.1284C>T (p.Ser428=)
c.8370+124068G>A (n.8370+124068G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897114G>CCA348048137EDAR,RANBP2c.1140C>G (p.Ser380Arg)
c.1236C>G (p.Ser412Arg)
c.1287C>G (p.Ser429Arg)
c.1191C>G (p.Ser397Arg)
c.567C>G (p.Ser189Arg)
c.1380C>G (p.Ser460Arg)
c.1284C>G (p.Ser428Arg)
c.8370+124068G>C (n.8370+124068G>C)
2g.108897114G=CA1278354280EDAR,RANBP2c.1140C= (p.Ser380=)
c.1236C= (p.Ser412=)
c.1287C= (p.Ser429=)
c.1191C= (p.Ser397=)
c.567C= (p.Ser189=)
c.1380C= (p.Ser460=)
c.1284C= (p.Ser428=)
c.8370+124068G= (n.8370+124068G=)
2g.108897114G>TCA348048138EDAR,RANBP2c.1140C>A (p.Ser380Arg)
c.1236C>A (p.Ser412Arg)
c.1287C>A (p.Ser429Arg)
c.1191C>A (p.Ser397Arg)
c.567C>A (p.Ser189Arg)
c.1380C>A (p.Ser460Arg)
c.1284C>A (p.Ser428Arg)
c.8370+124068G>T (n.8370+124068G>T)
 gnomAD v4
2g.108897115C>ACA348048140EDAR,RANBP2c.1139G>T (p.Ser380Ile)
c.1235G>T (p.Ser412Ile)
c.1286G>T (p.Ser429Ile)
c.1190G>T (p.Ser397Ile)
c.566G>T (p.Ser189Ile)
c.1379G>T (p.Ser460Ile)
c.1283G>T (p.Ser428Ile)
c.8370+124069C>A (n.8370+124069C>A)
2g.108897115C=CA1278354281EDAR,RANBP2c.1139G= (p.Ser380=)
c.1235G= (p.Ser412=)
c.1286G= (p.Ser429=)
c.1190G= (p.Ser397=)
c.566G= (p.Ser189=)
c.1379G= (p.Ser460=)
c.1283G= (p.Ser428=)
c.8370+124069C= (n.8370+124069C=)
2g.108897115C>GCA348048141EDAR,RANBP2c.1139G>C (p.Ser380Thr)
c.1235G>C (p.Ser412Thr)
c.1286G>C (p.Ser429Thr)
c.1190G>C (p.Ser397Thr)
c.566G>C (p.Ser189Thr)
c.1379G>C (p.Ser460Thr)
c.1283G>C (p.Ser428Thr)
c.8370+124069C>G (n.8370+124069C>G)
2g.108897115C>TCA348048139EDAR,RANBP2c.1139G>A (p.Ser380Asn)
c.1235G>A (p.Ser412Asn)
c.1286G>A (p.Ser429Asn)
c.1190G>A (p.Ser397Asn)
c.566G>A (p.Ser189Asn)
c.1379G>A (p.Ser460Asn)
c.1283G>A (p.Ser428Asn)
c.8370+124069C>T (n.8370+124069C>T)
 dbSNP gnomAD v4
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.108897116T>ACA348048142EDAR,RANBP2c.1138A>T (p.Ser380Cys)
c.1234A>T (p.Ser412Cys)
c.1285A>T (p.Ser429Cys)
c.1189A>T (p.Ser397Cys)
c.565A>T (p.Ser189Cys)
c.1378A>T (p.Ser460Cys)
c.1282A>T (p.Ser428Cys)
c.8370+124070T>A (n.8370+124070T>A)
2g.108897116T>CCA348048143EDAR,RANBP2c.1138A>G (p.Ser380Gly)
c.1234A>G (p.Ser412Gly)
c.1285A>G (p.Ser429Gly)
c.1189A>G (p.Ser397Gly)
c.565A>G (p.Ser189Gly)
c.1378A>G (p.Ser460Gly)
c.1282A>G (p.Ser428Gly)
c.8370+124070T>C (n.8370+124070T>C)
2g.108897116T>GCA1824811EDAR,RANBP2c.1138A>C (p.Ser380Arg)
c.1234A>C (p.Ser412Arg)
c.1285A>C (p.Ser429Arg)
c.1189A>C (p.Ser397Arg)
c.565A>C (p.Ser189Arg)
c.1378A>C (p.Ser460Arg)
c.1282A>C (p.Ser428Arg)
c.8370+124070T>G (n.8370+124070T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897116T=CA1278354282EDAR,RANBP2c.1138A= (p.Ser380=)
c.1234A= (p.Ser412=)
c.1285A= (p.Ser429=)
c.1189A= (p.Ser397=)
c.565A= (p.Ser189=)
c.1378A= (p.Ser460=)
c.1282A= (p.Ser428=)
c.8370+124070T= (n.8370+124070T=)
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
2g.108897130C>TCA253631EDAR,RANBP2c.1124G>A (p.Arg375His)
c.1220G>A (p.Arg407His)
c.1271G>A (p.Arg424His)
c.1175G>A (p.Arg392His)
c.551G>A (p.Arg184His)
c.1364G>A (p.Arg455His)
c.1268G>A (p.Arg423His)
c.8370+124084C>T (n.8370+124084C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108897131G>ACA1824814EDAR,RANBP2c.1123C>T (p.Arg375Cys)
c.1219C>T (p.Arg407Cys)
c.1270C>T (p.Arg424Cys)
c.1174C>T (p.Arg392Cys)
c.550C>T (p.Arg184Cys)
c.1363C>T (p.Arg455Cys)
c.1267C>T (p.Arg423Cys)
c.8370+124085G>A (n.8370+124085G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108897131G>CCA348048173EDAR,RANBP2c.1123C>G (p.Arg375Gly)
c.1219C>G (p.Arg407Gly)
c.1270C>G (p.Arg424Gly)
c.1174C>G (p.Arg392Gly)
c.550C>G (p.Arg184Gly)
c.1363C>G (p.Arg455Gly)
c.1267C>G (p.Arg423Gly)
c.8370+124085G>C (n.8370+124085G>C)
2g.108897131G=CA1278354291EDAR,RANBP2c.1123C= (p.Arg375=)
c.1219C= (p.Arg407=)
c.1270C= (p.Arg424=)
c.1174C= (p.Arg392=)
c.550C= (p.Arg184=)
c.1363C= (p.Arg455=)
c.1267C= (p.Arg423=)
c.8370+124085G= (n.8370+124085G=)
2g.108897131G>TCA348048174EDAR,RANBP2c.1123C>A (p.Arg375Ser)
c.1219C>A (p.Arg407Ser)
c.1270C>A (p.Arg424Ser)
c.1174C>A (p.Arg392Ser)
c.550C>A (p.Arg184Ser)
c.1363C>A (p.Arg455Ser)
c.1267C>A (p.Arg423Ser)
c.8370+124085G>T (n.8370+124085G>T)
2g.108897132C>ACA348048175EDAR,RANBP2c.1122G>T (p.Trp374Cys)
c.1218G>T (p.Trp406Cys)
c.1269G>T (p.Trp423Cys)
c.1173G>T (p.Trp391Cys)
c.549G>T (p.Trp183Cys)
c.1362G>T (p.Trp454Cys)
c.1266G>T (p.Trp422Cys)
c.8370+124086C>A (n.8370+124086C>A)
2g.108897132C>GCA348048176EDAR,RANBP2c.1122G>C (p.Trp374Cys)
c.1218G>C (p.Trp406Cys)
c.1269G>C (p.Trp423Cys)
c.1173G>C (p.Trp391Cys)
c.549G>C (p.Trp183Cys)
c.1362G>C (p.Trp454Cys)
c.1266G>C (p.Trp422Cys)
c.8370+124086C>G (n.8370+124086C>G)
2g.108897132C>TCA348048177EDAR,RANBP2c.1122G>A (p.Trp374Ter)
c.1218G>A (p.Trp406Ter)
c.1269G>A (p.Trp423Ter)
c.1173G>A (p.Trp391Ter)
c.549G>A (p.Trp183Ter)
c.1362G>A (p.Trp454Ter)
c.1266G>A (p.Trp422Ter)
c.8370+124086C>T (n.8370+124086C>T)
2g.108897133C>ACA53464866EDAR,RANBP2c.1121G>T (p.Trp374Leu)
c.1217G>T (p.Trp406Leu)
c.1268G>T (p.Trp423Leu)
c.1172G>T (p.Trp391Leu)
c.548G>T (p.Trp183Leu)
c.1361G>T (p.Trp454Leu)
c.1265G>T (p.Trp422Leu)
c.8370+124087C>A (n.8370+124087C>A)
 dbSNP
2g.108897133C=CA1278354292EDAR,RANBP2c.1121G= (p.Trp374=)
c.1217G= (p.Trp406=)
c.1268G= (p.Trp423=)
c.1172G= (p.Trp391=)
c.548G= (p.Trp183=)
c.1361G= (p.Trp454=)
c.1265G= (p.Trp422=)
c.8370+124087C= (n.8370+124087C=)
2g.108897133C>GCA348048178EDAR,RANBP2c.1121G>C (p.Trp374Ser)
c.1217G>C (p.Trp406Ser)
c.1268G>C (p.Trp423Ser)
c.1172G>C (p.Trp391Ser)
c.548G>C (p.Trp183Ser)
c.1361G>C (p.Trp454Ser)
c.1265G>C (p.Trp422Ser)
c.8370+124087C>G (n.8370+124087C>G)
2g.108897133C>TCA10588306EDAR,RANBP2c.1121G>A (p.Trp374Ter)
c.1217G>A (p.Trp406Ter)
c.1268G>A (p.Trp423Ter)
c.1172G>A (p.Trp391Ter)
c.548G>A (p.Trp183Ter)
c.1361G>A (p.Trp454Ter)
c.1265G>A (p.Trp422Ter)
c.8370+124087C>T (n.8370+124087C>T)
 ClinVar dbSNP gnomAD v4
2g.108897134A>CCA348048179EDAR,RANBP2c.1120T>G (p.Trp374Gly)
c.1216T>G (p.Trp406Gly)
c.1267T>G (p.Trp423Gly)
c.1171T>G (p.Trp391Gly)
c.547T>G (p.Trp183Gly)
c.1360T>G (p.Trp454Gly)
c.1264T>G (p.Trp422Gly)
c.8370+124088A>C (n.8370+124088A>C)
2g.108897134A>GCA348048180EDAR,RANBP2c.1120T>C (p.Trp374Arg)
c.1216T>C (p.Trp406Arg)
c.1267T>C (p.Trp423Arg)
c.1171T>C (p.Trp391Arg)
c.547T>C (p.Trp183Arg)
c.1360T>C (p.Trp454Arg)
c.1264T>C (p.Trp422Arg)
c.8370+124088A>G (n.8370+124088A>G)
2g.108897134A>TCA348048181EDAR,RANBP2c.1120T>A (p.Trp374Arg)
c.1216T>A (p.Trp406Arg)
c.1267T>A (p.Trp423Arg)
c.1171T>A (p.Trp391Arg)
c.547T>A (p.Trp183Arg)
c.1360T>A (p.Trp454Arg)
c.1264T>A (p.Trp422Arg)
c.8370+124088A>T (n.8370+124088A>T)
2g.108897135C>ACA428204164EDAR,RANBP2c.1119G>T (p.Thr373=)
c.1215G>T (p.Thr405=)
c.1266G>T (p.Thr422=)
c.1170G>T (p.Thr390=)
c.546G>T (p.Thr182=)
c.1359G>T (p.Thr453=)
c.1263G>T (p.Thr421=)
c.8370+124089C>A (n.8370+124089C>A)
2g.108897135C=CA1278354293EDAR,RANBP2c.1119G= (p.Thr373=)
c.1215G= (p.Thr405=)
c.1266G= (p.Thr422=)
c.1170G= (p.Thr390=)
c.546G= (p.Thr182=)
c.1359G= (p.Thr453=)
c.1263G= (p.Thr421=)
c.8370+124089C= (n.8370+124089C=)
2g.108897135C>GCA428204165EDAR,RANBP2c.1119G>C (p.Thr373=)
c.1215G>C (p.Thr405=)
c.1266G>C (p.Thr422=)
c.1170G>C (p.Thr390=)
c.546G>C (p.Thr182=)
c.1359G>C (p.Thr453=)
c.1263G>C (p.Thr421=)
c.8370+124089C>G (n.8370+124089C>G)
 dbSNP gnomAD v2
2g.108897135C>TCA1824815EDAR,RANBP2c.1119G>A (p.Thr373=)
c.1215G>A (p.Thr405=)
c.1266G>A (p.Thr422=)
c.1170G>A (p.Thr390=)
c.546G>A (p.Thr182=)
c.1359G>A (p.Thr453=)
c.1263G>A (p.Thr421=)
c.8370+124089C>T (n.8370+124089C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897136G>ACA348048182EDAR,RANBP2c.1118C>T (p.Thr373Met)
c.1214C>T (p.Thr405Met)
c.1265C>T (p.Thr422Met)
c.1169C>T (p.Thr390Met)
c.545C>T (p.Thr182Met)
c.1358C>T (p.Thr453Met)
c.1262C>T (p.Thr421Met)
c.8370+124090G>A (n.8370+124090G>A)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.108897136G>CCA348048183EDAR,RANBP2c.1118C>G (p.Thr373Arg)
c.1214C>G (p.Thr405Arg)
c.1265C>G (p.Thr422Arg)
c.1169C>G (p.Thr390Arg)
c.545C>G (p.Thr182Arg)
c.1358C>G (p.Thr453Arg)
c.1262C>G (p.Thr421Arg)
c.8370+124090G>C (n.8370+124090G>C)
2g.108897136G=CA1278354294EDAR,RANBP2c.1118C= (p.Thr373=)
c.1214C= (p.Thr405=)
c.1265C= (p.Thr422=)
c.1169C= (p.Thr390=)
c.545C= (p.Thr182=)
c.1358C= (p.Thr453=)
c.1262C= (p.Thr421=)
c.8370+124090G= (n.8370+124090G=)
2g.108897136G>TCA348048184EDAR,RANBP2c.1118C>A (p.Thr373Lys)
c.1214C>A (p.Thr405Lys)
c.1265C>A (p.Thr422Lys)
c.1169C>A (p.Thr390Lys)
c.545C>A (p.Thr182Lys)
c.1358C>A (p.Thr453Lys)
c.1262C>A (p.Thr421Lys)
c.8370+124090G>T (n.8370+124090G>T)
2g.108897137T>ACA348048185EDAR,RANBP2c.1117A>T (p.Thr373Ser)
c.1213A>T (p.Thr405Ser)
c.1264A>T (p.Thr422Ser)
c.1168A>T (p.Thr390Ser)
c.544A>T (p.Thr182Ser)
c.1357A>T (p.Thr453Ser)
c.1261A>T (p.Thr421Ser)
c.8370+124091T>A (n.8370+124091T>A)
2g.108897137T>CCA348048186EDAR,RANBP2c.1117A>G (p.Thr373Ala)
c.1213A>G (p.Thr405Ala)
c.1264A>G (p.Thr422Ala)
c.1168A>G (p.Thr390Ala)
c.544A>G (p.Thr182Ala)
c.1357A>G (p.Thr453Ala)
c.1261A>G (p.Thr421Ala)
c.8370+124091T>C (n.8370+124091T>C)
2g.108897137T>GCA348048187EDAR,RANBP2c.1117A>C (p.Thr373Pro)
c.1213A>C (p.Thr405Pro)
c.1264A>C (p.Thr422Pro)
c.1168A>C (p.Thr390Pro)
c.544A>C (p.Thr182Pro)
c.1357A>C (p.Thr453Pro)
c.1261A>C (p.Thr421Pro)
c.8370+124091T>G (n.8370+124091T>G)
2g.108897138T>ACA348048188EDAR,RANBP2c.1116A>T (p.Lys372Asn)
c.1212A>T (p.Lys404Asn)
c.1263A>T (p.Lys421Asn)
c.1167A>T (p.Lys389Asn)
c.543A>T (p.Lys181Asn)
c.1356A>T (p.Lys452Asn)
c.1260A>T (p.Lys420Asn)
c.8370+124092T>A (n.8370+124092T>A)
2g.108897138T>CCA428204170EDAR,RANBP2c.1116A>G (p.Lys372=)
c.1212A>G (p.Lys404=)
c.1263A>G (p.Lys421=)
c.1167A>G (p.Lys389=)
c.543A>G (p.Lys181=)
c.1356A>G (p.Lys452=)
c.1260A>G (p.Lys420=)
c.8370+124092T>C (n.8370+124092T>C)
2g.108897138T>GCA348048189EDAR,RANBP2c.1116A>C (p.Lys372Asn)
c.1212A>C (p.Lys404Asn)
c.1263A>C (p.Lys421Asn)
c.1167A>C (p.Lys389Asn)
c.543A>C (p.Lys181Asn)
c.1356A>C (p.Lys452Asn)
c.1260A>C (p.Lys420Asn)
c.8370+124092T>G (n.8370+124092T>G)
2g.108897139T>ACA348048190EDAR,RANBP2c.1115A>T (p.Lys372Ile)
c.1211A>T (p.Lys404Ile)
c.1262A>T (p.Lys421Ile)
c.1166A>T (p.Lys389Ile)
c.542A>T (p.Lys181Ile)
c.1355A>T (p.Lys452Ile)
c.1259A>T (p.Lys420Ile)
c.8370+124093T>A (n.8370+124093T>A)
2g.108897139T>CCA348048192EDAR,RANBP2c.1115A>G (p.Lys372Arg)
c.1211A>G (p.Lys404Arg)
c.1262A>G (p.Lys421Arg)
c.1166A>G (p.Lys389Arg)
c.542A>G (p.Lys181Arg)
c.1355A>G (p.Lys452Arg)
c.1259A>G (p.Lys420Arg)
c.8370+124093T>C (n.8370+124093T>C)
2g.108897139T>GCA348048191EDAR,RANBP2c.1115A>C (p.Lys372Thr)
c.1211A>C (p.Lys404Thr)
c.1262A>C (p.Lys421Thr)
c.1166A>C (p.Lys389Thr)
c.542A>C (p.Lys181Thr)
c.1355A>C (p.Lys452Thr)
c.1259A>C (p.Lys420Thr)
c.8370+124093T>G (n.8370+124093T>G)
2g.108897140T>ACA348048193EDAR,RANBP2c.1114A>T (p.Lys372Ter)
c.1210A>T (p.Lys404Ter)
c.1261A>T (p.Lys421Ter)
c.1165A>T (p.Lys389Ter)
c.541A>T (p.Lys181Ter)
c.1354A>T (p.Lys452Ter)
c.1258A>T (p.Lys420Ter)
c.8370+124094T>A (n.8370+124094T>A)
2g.108897140T>CCA348048194EDAR,RANBP2c.1114A>G (p.Lys372Glu)
c.1210A>G (p.Lys404Glu)
c.1261A>G (p.Lys421Glu)
c.1165A>G (p.Lys389Glu)
c.541A>G (p.Lys181Glu)
c.1354A>G (p.Lys452Glu)
c.1258A>G (p.Lys420Glu)
c.8370+124094T>C (n.8370+124094T>C)
2g.108897140T>GCA348048195EDAR,RANBP2c.1114A>C (p.Lys372Gln)
c.1210A>C (p.Lys404Gln)
c.1261A>C (p.Lys421Gln)
c.1165A>C (p.Lys389Gln)
c.541A>C (p.Lys181Gln)
c.1354A>C (p.Lys452Gln)
c.1258A>C (p.Lys420Gln)
c.8370+124094T>G (n.8370+124094T>G)
 COSMIC COSMIC
2g.108897141C>ACA428204174EDAR,RANBP2c.1113G>T (p.Val371=)
c.1209G>T (p.Val403=)
c.1260G>T (p.Val420=)
c.1164G>T (p.Val388=)
c.540G>T (p.Val180=)
c.1353G>T (p.Val451=)
c.1257G>T (p.Val419=)
c.8370+124095C>A (n.8370+124095C>A)
2g.108897141C>GCA428204175EDAR,RANBP2c.1113G>C (p.Val371=)
c.1209G>C (p.Val403=)
c.1260G>C (p.Val420=)
c.1164G>C (p.Val388=)
c.540G>C (p.Val180=)
c.1353G>C (p.Val451=)
c.1257G>C (p.Val419=)
c.8370+124095C>G (n.8370+124095C>G)
2g.108897141C>TCA428204176EDAR,RANBP2c.1113G>A (p.Val371=)
c.1209G>A (p.Val403=)
c.1260G>A (p.Val420=)
c.1164G>A (p.Val388=)
c.540G>A (p.Val180=)
c.1353G>A (p.Val451=)
c.1257G>A (p.Val419=)
c.8370+124095C>T (n.8370+124095C>T)
 COSMIC COSMIC
2g.108897142A=CA1278354295EDAR,RANBP2c.1112T= (p.Val371=)
c.1208T= (p.Val403=)
c.1259T= (p.Val420=)
c.1163T= (p.Val388=)
c.539T= (p.Val180=)
c.1352T= (p.Val451=)
c.1256T= (p.Val419=)
c.8370+124096A= (n.8370+124096A=)
2g.108897142A>CCA348048196EDAR,RANBP2c.1112T>G (p.Val371Gly)
c.1208T>G (p.Val403Gly)
c.1259T>G (p.Val420Gly)
c.1163T>G (p.Val388Gly)
c.539T>G (p.Val180Gly)
c.1352T>G (p.Val451Gly)
c.1256T>G (p.Val419Gly)
c.8370+124096A>C (n.8370+124096A>C)
 gnomAD v4
2g.108897142A>GCA348048197EDAR,RANBP2c.1112T>C (p.Val371Ala)
c.1208T>C (p.Val403Ala)
c.1259T>C (p.Val420Ala)
c.1163T>C (p.Val388Ala)
c.539T>C (p.Val180Ala)
c.1352T>C (p.Val451Ala)
c.1256T>C (p.Val419Ala)
c.8370+124096A>G (n.8370+124096A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897142A>TCA348048198EDAR,RANBP2c.1112T>A (p.Val371Glu)
c.1208T>A (p.Val403Glu)
c.1259T>A (p.Val420Glu)
c.1163T>A (p.Val388Glu)
c.539T>A (p.Val180Glu)
c.1352T>A (p.Val451Glu)
c.1256T>A (p.Val419Glu)
c.8370+124096A>T (n.8370+124096A>T)
2g.108897143C>ACA348048199EDAR,RANBP2c.1111G>T (p.Val371Leu)
c.1207G>T (p.Val403Leu)
c.1258G>T (p.Val420Leu)
c.1162G>T (p.Val388Leu)
c.538G>T (p.Val180Leu)
c.1351G>T (p.Val451Leu)
c.1255G>T (p.Val419Leu)
c.8370+124097C>A (n.8370+124097C>A)
2g.108897143C>GCA348048200EDAR,RANBP2c.1111G>C (p.Val371Leu)
c.1207G>C (p.Val403Leu)
c.1258G>C (p.Val420Leu)
c.1162G>C (p.Val388Leu)
c.538G>C (p.Val180Leu)
c.1351G>C (p.Val451Leu)
c.1255G>C (p.Val419Leu)
c.8370+124097C>G (n.8370+124097C>G)
2g.108897143C>TCA348048201EDAR,RANBP2c.1111G>A (p.Val371Met)
c.1207G>A (p.Val403Met)
c.1258G>A (p.Val420Met)
c.1162G>A (p.Val388Met)
c.538G>A (p.Val180Met)
c.1351G>A (p.Val451Met)
c.1255G>A (p.Val419Met)
c.8370+124097C>T (n.8370+124097C>T)
2g.108897144A>CCA428204182EDAR,RANBP2c.1110T>G (p.Val370=)
c.1206T>G (p.Val402=)
c.1257T>G (p.Val419=)
c.1161T>G (p.Val387=)
c.537T>G (p.Val179=)
c.1350T>G (p.Val450=)
c.1254T>G (p.Val418=)
c.8370+124098A>C (n.8370+124098A>C)
2g.108897144A>GCA428204178EDAR,RANBP2c.1110T>C (p.Val370=)
c.1206T>C (p.Val402=)
c.1257T>C (p.Val419=)
c.1161T>C (p.Val387=)
c.537T>C (p.Val179=)
c.1350T>C (p.Val450=)
c.1254T>C (p.Val418=)
c.8370+124098A>G (n.8370+124098A>G)
2g.108897144A>TCA428204180EDAR,RANBP2c.1110T>A (p.Val370=)
c.1206T>A (p.Val402=)
c.1257T>A (p.Val419=)
c.1161T>A (p.Val387=)
c.537T>A (p.Val179=)
c.1350T>A (p.Val450=)
c.1254T>A (p.Val418=)
c.8370+124098A>T (n.8370+124098A>T)
2g.108897145A=CA1278354296EDAR,RANBP2c.1109T= (p.Val370=)
c.1205T= (p.Val402=)
c.1256T= (p.Val419=)
c.1160T= (p.Val387=)
c.536T= (p.Val179=)
c.1349T= (p.Val450=)
c.1253T= (p.Val418=)
c.8370+124099A= (n.8370+124099A=)
2g.108897145A>CCA348048202EDAR,RANBP2c.1109T>G (p.Val370Gly)
c.1205T>G (p.Val402Gly)
c.1256T>G (p.Val419Gly)
c.1160T>G (p.Val387Gly)
c.536T>G (p.Val179Gly)
c.1349T>G (p.Val450Gly)
c.1253T>G (p.Val418Gly)
c.8370+124099A>C (n.8370+124099A>C)
 dbSNP
2g.108897145A>GCA117813EDAR,RANBP2c.1109T>C (p.Val370Ala)
c.1205T>C (p.Val402Ala)
c.1256T>C (p.Val419Ala)
c.1160T>C (p.Val387Ala)
c.536T>C (p.Val179Ala)
c.1349T>C (p.Val450Ala)
c.1253T>C (p.Val418Ala)
c.8370+124099A>G (n.8370+124099A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897145A>TCA348048203EDAR,RANBP2c.1109T>A (p.Val370Asp)
c.1205T>A (p.Val402Asp)
c.1256T>A (p.Val419Asp)
c.1160T>A (p.Val387Asp)
c.536T>A (p.Val179Asp)
c.1349T>A (p.Val450Asp)
c.1253T>A (p.Val418Asp)
c.8370+124099A>T (n.8370+124099A>T)

Number of alleles fetched