Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108896960G>ACA428203893EDAR,RANBP2c.1294C>T (p.Leu432=)
c.1390C>T (p.Leu464=)
c.1441C>T (p.Leu481=)
c.1345C>T (p.Leu449=)
c.721C>T (p.Leu241=)
c.1534C>T (p.Leu512=)
c.1438C>T (p.Leu480=)
c.8370+123914G>A (n.8370+123914G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108896960G>CCA348047603EDAR,RANBP2c.1294C>G (p.Leu432Val)
c.1390C>G (p.Leu464Val)
c.1441C>G (p.Leu481Val)
c.1345C>G (p.Leu449Val)
c.721C>G (p.Leu241Val)
c.1534C>G (p.Leu512Val)
c.1438C>G (p.Leu480Val)
c.8370+123914G>C (n.8370+123914G>C)
2g.108896960G=CA1278354215EDAR,RANBP2c.1294C= (p.Leu432=)
c.1390C= (p.Leu464=)
c.1441C= (p.Leu481=)
c.1345C= (p.Leu449=)
c.721C= (p.Leu241=)
c.1534C= (p.Leu512=)
c.1438C= (p.Leu480=)
c.8370+123914G= (n.8370+123914G=)
2g.108896960G>TCA348047601EDAR,RANBP2c.1294C>A (p.Leu432Met)
c.1390C>A (p.Leu464Met)
c.1441C>A (p.Leu481Met)
c.1345C>A (p.Leu449Met)
c.721C>A (p.Leu241Met)
c.1534C>A (p.Leu512Met)
c.1438C>A (p.Leu480Met)
c.8370+123914G>T (n.8370+123914G>T)
2g.108896961T>ACA428203894EDAR,RANBP2c.1293A>T (p.Ile431=)
c.1389A>T (p.Ile463=)
c.1440A>T (p.Ile480=)
c.1344A>T (p.Ile448=)
c.720A>T (p.Ile240=)
c.1533A>T (p.Ile511=)
c.1437A>T (p.Ile479=)
c.8370+123915T>A (n.8370+123915T>A)
2g.108896961T>CCA348047605EDAR,RANBP2c.1293A>G (p.Ile431Met)
c.1389A>G (p.Ile463Met)
c.1440A>G (p.Ile480Met)
c.1344A>G (p.Ile448Met)
c.720A>G (p.Ile240Met)
c.1533A>G (p.Ile511Met)
c.1437A>G (p.Ile479Met)
c.8370+123915T>C (n.8370+123915T>C)
 ClinVar dbSNP
2g.108896961T>GCA428203895EDAR,RANBP2c.1293A>C (p.Ile431=)
c.1389A>C (p.Ile463=)
c.1440A>C (p.Ile480=)
c.1344A>C (p.Ile448=)
c.720A>C (p.Ile240=)
c.1533A>C (p.Ile511=)
c.1437A>C (p.Ile479=)
c.8370+123915T>G (n.8370+123915T>G)
 dbSNP
2g.108896961T=CA1278354216EDAR,RANBP2c.1293A= (p.Ile431=)
c.1389A= (p.Ile463=)
c.1440A= (p.Ile480=)
c.1344A= (p.Ile448=)
c.720A= (p.Ile240=)
c.1533A= (p.Ile511=)
c.1437A= (p.Ile479=)
c.8370+123915T= (n.8370+123915T=)
2g.108896962A=CA1278354217EDAR,RANBP2c.1292T= (p.Ile431=)
c.1388T= (p.Ile463=)
c.1439T= (p.Ile480=)
c.1343T= (p.Ile448=)
c.719T= (p.Ile240=)
c.1532T= (p.Ile511=)
c.1436T= (p.Ile479=)
c.8370+123916A= (n.8370+123916A=)
2g.108896962A>CCA348047608EDAR,RANBP2c.1292T>G (p.Ile431Arg)
c.1388T>G (p.Ile463Arg)
c.1439T>G (p.Ile480Arg)
c.1343T>G (p.Ile448Arg)
c.719T>G (p.Ile240Arg)
c.1532T>G (p.Ile511Arg)
c.1436T>G (p.Ile479Arg)
c.8370+123916A>C (n.8370+123916A>C)
2g.108896962A>GCA348047607EDAR,RANBP2c.1292T>C (p.Ile431Thr)
c.1388T>C (p.Ile463Thr)
c.1439T>C (p.Ile480Thr)
c.1343T>C (p.Ile448Thr)
c.719T>C (p.Ile240Thr)
c.1532T>C (p.Ile511Thr)
c.1436T>C (p.Ile479Thr)
c.8370+123916A>G (n.8370+123916A>G)
 ClinVar dbSNP
2g.108896962A>TCA348047611EDAR,RANBP2c.1292T>A (p.Ile431Lys)
c.1388T>A (p.Ile463Lys)
c.1439T>A (p.Ile480Lys)
c.1343T>A (p.Ile448Lys)
c.719T>A (p.Ile240Lys)
c.1532T>A (p.Ile511Lys)
c.1436T>A (p.Ile479Lys)
c.8370+123916A>T (n.8370+123916A>T)
2g.108896963T>ACA348047612EDAR,RANBP2c.1291A>T (p.Ile431Leu)
c.1387A>T (p.Ile463Leu)
c.1438A>T (p.Ile480Leu)
c.1342A>T (p.Ile448Leu)
c.718A>T (p.Ile240Leu)
c.1531A>T (p.Ile511Leu)
c.1435A>T (p.Ile479Leu)
c.8370+123917T>A (n.8370+123917T>A)
2g.108896963T>CCA1824792EDAR,RANBP2c.1291A>G (p.Ile431Val)
c.1387A>G (p.Ile463Val)
c.1438A>G (p.Ile480Val)
c.1342A>G (p.Ile448Val)
c.718A>G (p.Ile240Val)
c.1531A>G (p.Ile511Val)
c.1435A>G (p.Ile479Val)
c.8370+123917T>C (n.8370+123917T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108896963T>GCA348047615EDAR,RANBP2c.1291A>C (p.Ile431Leu)
c.1387A>C (p.Ile463Leu)
c.1438A>C (p.Ile480Leu)
c.1342A>C (p.Ile448Leu)
c.718A>C (p.Ile240Leu)
c.1531A>C (p.Ile511Leu)
c.1435A>C (p.Ile479Leu)
c.8370+123917T>G (n.8370+123917T>G)
2g.108896963T=CA1278354218EDAR,RANBP2c.1291A= (p.Ile431=)
c.1387A= (p.Ile463=)
c.1438A= (p.Ile480=)
c.1342A= (p.Ile448=)
c.718A= (p.Ile240=)
c.1531A= (p.Ile511=)
c.1435A= (p.Ile479=)
c.8370+123917T= (n.8370+123917T=)
2g.108896964G>ACA428203896EDAR,RANBP2c.1290C>T (p.Asp430=)
c.1386C>T (p.Asp462=)
c.1437C>T (p.Asp479=)
c.1341C>T (p.Asp447=)
c.717C>T (p.Asp239=)
c.1530C>T (p.Asp510=)
c.1434C>T (p.Asp478=)
c.8370+123918G>A (n.8370+123918G>A)
2g.108896964G>CCA348047617EDAR,RANBP2c.1290C>G (p.Asp430Glu)
c.1386C>G (p.Asp462Glu)
c.1437C>G (p.Asp479Glu)
c.1341C>G (p.Asp447Glu)
c.717C>G (p.Asp239Glu)
c.1530C>G (p.Asp510Glu)
c.1434C>G (p.Asp478Glu)
c.8370+123918G>C (n.8370+123918G>C)
2g.108896964G=CA1278354219EDAR,RANBP2c.1290C= (p.Asp430=)
c.1386C= (p.Asp462=)
c.1437C= (p.Asp479=)
c.1341C= (p.Asp447=)
c.717C= (p.Asp239=)
c.1530C= (p.Asp510=)
c.1434C= (p.Asp478=)
c.8370+123918G= (n.8370+123918G=)
2g.108896964G>TCA348047619EDAR,RANBP2c.1290C>A (p.Asp430Glu)
c.1386C>A (p.Asp462Glu)
c.1437C>A (p.Asp479Glu)
c.1341C>A (p.Asp447Glu)
c.717C>A (p.Asp239Glu)
c.1530C>A (p.Asp510Glu)
c.1434C>A (p.Asp478Glu)
c.8370+123918G>T (n.8370+123918G>T)
 dbSNP
2g.108896965T>ACA348047624EDAR,RANBP2c.1289A>T (p.Asp430Val)
c.1385A>T (p.Asp462Val)
c.1436A>T (p.Asp479Val)
c.1340A>T (p.Asp447Val)
c.716A>T (p.Asp239Val)
c.1529A>T (p.Asp510Val)
c.1433A>T (p.Asp478Val)
c.8370+123919T>A (n.8370+123919T>A)
2g.108896965T>CCA348047622EDAR,RANBP2c.1289A>G (p.Asp430Gly)
c.1385A>G (p.Asp462Gly)
c.1436A>G (p.Asp479Gly)
c.1340A>G (p.Asp447Gly)
c.716A>G (p.Asp239Gly)
c.1529A>G (p.Asp510Gly)
c.1433A>G (p.Asp478Gly)
c.8370+123919T>C (n.8370+123919T>C)
2g.108896965T>GCA348047621EDAR,RANBP2c.1289A>C (p.Asp430Ala)
c.1385A>C (p.Asp462Ala)
c.1436A>C (p.Asp479Ala)
c.1340A>C (p.Asp447Ala)
c.716A>C (p.Asp239Ala)
c.1529A>C (p.Asp510Ala)
c.1433A>C (p.Asp478Ala)
c.8370+123919T>G (n.8370+123919T>G)
2g.108896966C>ACA348047626EDAR,RANBP2c.1288G>T (p.Asp430Tyr)
c.1384G>T (p.Asp462Tyr)
c.1435G>T (p.Asp479Tyr)
c.1339G>T (p.Asp447Tyr)
c.715G>T (p.Asp239Tyr)
c.1528G>T (p.Asp510Tyr)
c.1432G>T (p.Asp478Tyr)
c.8370+123920C>A (n.8370+123920C>A)
2g.108896966C=CA1278354220EDAR,RANBP2c.1288G= (p.Asp430=)
c.1384G= (p.Asp462=)
c.1435G= (p.Asp479=)
c.1339G= (p.Asp447=)
c.715G= (p.Asp239=)
c.1528G= (p.Asp510=)
c.1432G= (p.Asp478=)
c.8370+123920C= (n.8370+123920C=)
2g.108896966C>GCA348047627EDAR,RANBP2c.1288G>C (p.Asp430His)
c.1384G>C (p.Asp462His)
c.1435G>C (p.Asp479His)
c.1339G>C (p.Asp447His)
c.715G>C (p.Asp239His)
c.1528G>C (p.Asp510His)
c.1432G>C (p.Asp478His)
c.8370+123920C>G (n.8370+123920C>G)
2g.108896966C>TCA10611771EDAR,RANBP2c.1288G>A (p.Asp430Asn)
c.1384G>A (p.Asp462Asn)
c.1435G>A (p.Asp479Asn)
c.1339G>A (p.Asp447Asn)
c.715G>A (p.Asp239Asn)
c.1528G>A (p.Asp510Asn)
c.1432G>A (p.Asp478Asn)
c.8370+123920C>T (n.8370+123920C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108896967T>ACA428203900EDAR,RANBP2c.1287A>T (p.Ala429=)
c.1383A>T (p.Ala461=)
c.1434A>T (p.Ala478=)
c.1338A>T (p.Ala446=)
c.714A>T (p.Ala238=)
c.1527A>T (p.Ala509=)
c.1431A>T (p.Ala477=)
c.8370+123921T>A (n.8370+123921T>A)
2g.108896967T>CCA428203901EDAR,RANBP2c.1287A>G (p.Ala429=)
c.1383A>G (p.Ala461=)
c.1434A>G (p.Ala478=)
c.1338A>G (p.Ala446=)
c.714A>G (p.Ala238=)
c.1527A>G (p.Ala509=)
c.1431A>G (p.Ala477=)
c.8370+123921T>C (n.8370+123921T>C)
 gnomAD v4
2g.108896967T>GCA428203902EDAR,RANBP2c.1287A>C (p.Ala429=)
c.1383A>C (p.Ala461=)
c.1434A>C (p.Ala478=)
c.1338A>C (p.Ala446=)
c.714A>C (p.Ala238=)
c.1527A>C (p.Ala509=)
c.1431A>C (p.Ala477=)
c.8370+123921T>G (n.8370+123921T>G)
2g.108896968G>ACA348047631EDAR,RANBP2c.1286C>T (p.Ala429Val)
c.1382C>T (p.Ala461Val)
c.1433C>T (p.Ala478Val)
c.1337C>T (p.Ala446Val)
c.713C>T (p.Ala238Val)
c.1526C>T (p.Ala509Val)
c.1430C>T (p.Ala477Val)
c.8370+123922G>A (n.8370+123922G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108896968G>CCA348047633EDAR,RANBP2c.1286C>G (p.Ala429Gly)
c.1382C>G (p.Ala461Gly)
c.1433C>G (p.Ala478Gly)
c.1337C>G (p.Ala446Gly)
c.713C>G (p.Ala238Gly)
c.1526C>G (p.Ala509Gly)
c.1430C>G (p.Ala477Gly)
c.8370+123922G>C (n.8370+123922G>C)
2g.108896968G=CA1278354221EDAR,RANBP2c.1286C= (p.Ala429=)
c.1382C= (p.Ala461=)
c.1433C= (p.Ala478=)
c.1337C= (p.Ala446=)
c.713C= (p.Ala238=)
c.1526C= (p.Ala509=)
c.1430C= (p.Ala477=)
c.8370+123922G= (n.8370+123922G=)
2g.108896968G>TCA348047635EDAR,RANBP2c.1286C>A (p.Ala429Glu)
c.1382C>A (p.Ala461Glu)
c.1433C>A (p.Ala478Glu)
c.1337C>A (p.Ala446Glu)
c.713C>A (p.Ala238Glu)
c.1526C>A (p.Ala509Glu)
c.1430C>A (p.Ala477Glu)
c.8370+123922G>T (n.8370+123922G>T)
2g.108896969C>ACA348047637EDAR,RANBP2c.1285G>T (p.Ala429Ser)
c.1381G>T (p.Ala461Ser)
c.1432G>T (p.Ala478Ser)
c.1336G>T (p.Ala446Ser)
c.712G>T (p.Ala238Ser)
c.1525G>T (p.Ala509Ser)
c.1429G>T (p.Ala477Ser)
c.8370+123923C>A (n.8370+123923C>A)
2g.108896969C>GCA348047641EDAR,RANBP2c.1285G>C (p.Ala429Pro)
c.1381G>C (p.Ala461Pro)
c.1432G>C (p.Ala478Pro)
c.1336G>C (p.Ala446Pro)
c.712G>C (p.Ala238Pro)
c.1525G>C (p.Ala509Pro)
c.1429G>C (p.Ala477Pro)
c.8370+123923C>G (n.8370+123923C>G)
2g.108896969C>TCA348047639EDAR,RANBP2c.1285G>A (p.Ala429Thr)
c.1381G>A (p.Ala461Thr)
c.1432G>A (p.Ala478Thr)
c.1336G>A (p.Ala446Thr)
c.712G>A (p.Ala238Thr)
c.1525G>A (p.Ala509Thr)
c.1429G>A (p.Ala477Thr)
c.8370+123923C>T (n.8370+123923C>T)
 gnomAD v4
2g.108896970A=CA1278354222EDAR,RANBP2c.1284T= (p.Cys428=)
c.1380T= (p.Cys460=)
c.1431T= (p.Cys477=)
c.1335T= (p.Cys445=)
c.711T= (p.Cys237=)
c.1524T= (p.Cys508=)
c.1428T= (p.Cys476=)
c.8370+123924A= (n.8370+123924A=)
2g.108896970A>CCA16617223EDAR,RANBP2c.1284T>G (p.Cys428Trp)
c.1380T>G (p.Cys460Trp)
c.1431T>G (p.Cys477Trp)
c.1335T>G (p.Cys445Trp)
c.711T>G (p.Cys237Trp)
c.1524T>G (p.Cys508Trp)
c.1428T>G (p.Cys476Trp)
c.8370+123924A>C (n.8370+123924A>C)
 ClinVar dbSNP
2g.108896970A>GCA428203904EDAR,RANBP2c.1284T>C (p.Cys428=)
c.1380T>C (p.Cys460=)
c.1431T>C (p.Cys477=)
c.1335T>C (p.Cys445=)
c.711T>C (p.Cys237=)
c.1524T>C (p.Cys508=)
c.1428T>C (p.Cys476=)
c.8370+123924A>G (n.8370+123924A>G)
2g.108896970A>TCA10602612EDAR,RANBP2c.1284T>A (p.Cys428Ter)
c.1380T>A (p.Cys460Ter)
c.1431T>A (p.Cys477Ter)
c.1335T>A (p.Cys445Ter)
c.711T>A (p.Cys237Ter)
c.1524T>A (p.Cys508Ter)
c.1428T>A (p.Cys476Ter)
c.8370+123924A>T (n.8370+123924A>T)
 ClinVar dbSNP
2g.108896971C>ACA348047643EDAR,RANBP2c.1283G>T (p.Cys428Phe)
c.1379G>T (p.Cys460Phe)
c.1430G>T (p.Cys477Phe)
c.1334G>T (p.Cys445Phe)
c.710G>T (p.Cys237Phe)
c.1523G>T (p.Cys508Phe)
c.1427G>T (p.Cys476Phe)
c.8370+123925C>A (n.8370+123925C>A)
2g.108896971C>GCA348047645EDAR,RANBP2c.1283G>C (p.Cys428Ser)
c.1379G>C (p.Cys460Ser)
c.1430G>C (p.Cys477Ser)
c.1334G>C (p.Cys445Ser)
c.710G>C (p.Cys237Ser)
c.1523G>C (p.Cys508Ser)
c.1427G>C (p.Cys476Ser)
c.8370+123925C>G (n.8370+123925C>G)
2g.108896971C>TCA348047646EDAR,RANBP2c.1283G>A (p.Cys428Tyr)
c.1379G>A (p.Cys460Tyr)
c.1430G>A (p.Cys477Tyr)
c.1334G>A (p.Cys445Tyr)
c.710G>A (p.Cys237Tyr)
c.1523G>A (p.Cys508Tyr)
c.1427G>A (p.Cys476Tyr)
c.8370+123925C>T (n.8370+123925C>T)
2g.108896972A>CCA348047650EDAR,RANBP2c.1282T>G (p.Cys428Gly)
c.1378T>G (p.Cys460Gly)
c.1429T>G (p.Cys477Gly)
c.1333T>G (p.Cys445Gly)
c.709T>G (p.Cys237Gly)
c.1522T>G (p.Cys508Gly)
c.1426T>G (p.Cys476Gly)
c.8370+123926A>C (n.8370+123926A>C)
 gnomAD v4
2g.108896972A>GCA348047651EDAR,RANBP2c.1282T>C (p.Cys428Arg)
c.1378T>C (p.Cys460Arg)
c.1429T>C (p.Cys477Arg)
c.1333T>C (p.Cys445Arg)
c.709T>C (p.Cys237Arg)
c.1522T>C (p.Cys508Arg)
c.1426T>C (p.Cys476Arg)
c.8370+123926A>G (n.8370+123926A>G)
 ClinVar
2g.108896972A>TCA348047652EDAR,RANBP2c.1282T>A (p.Cys428Ser)
c.1378T>A (p.Cys460Ser)
c.1429T>A (p.Cys477Ser)
c.1333T>A (p.Cys445Ser)
c.709T>A (p.Cys237Ser)
c.1522T>A (p.Cys508Ser)
c.1426T>A (p.Cys476Ser)
c.8370+123926A>T (n.8370+123926A>T)
2g.108896973C>ACA348047654EDAR,RANBP2c.1281G>T (p.Leu427Phe)
c.1377G>T (p.Leu459Phe)
c.1428G>T (p.Leu476Phe)
c.1332G>T (p.Leu444Phe)
c.708G>T (p.Leu236Phe)
c.1521G>T (p.Leu507Phe)
c.1425G>T (p.Leu475Phe)
c.8370+123927C>A (n.8370+123927C>A)
2g.108896973C>GCA348047656EDAR,RANBP2c.1281G>C (p.Leu427Phe)
c.1377G>C (p.Leu459Phe)
c.1428G>C (p.Leu476Phe)
c.1332G>C (p.Leu444Phe)
c.708G>C (p.Leu236Phe)
c.1521G>C (p.Leu507Phe)
c.1425G>C (p.Leu475Phe)
c.8370+123927C>G (n.8370+123927C>G)
2g.108896973C>TCA428203906EDAR,RANBP2c.1281G>A (p.Leu427=)
c.1377G>A (p.Leu459=)
c.1428G>A (p.Leu476=)
c.1332G>A (p.Leu444=)
c.708G>A (p.Leu236=)
c.1521G>A (p.Leu507=)
c.1425G>A (p.Leu475=)
c.8370+123927C>T (n.8370+123927C>T)
 gnomAD v4

Number of alleles fetched