Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.108896974A>CCA348047662EDAR,RANBP2c.1280T>G (p.Leu427Trp)
c.1376T>G (p.Leu459Trp)
c.1427T>G (p.Leu476Trp)
c.1331T>G (p.Leu444Trp)
c.707T>G (p.Leu236Trp)
c.1520T>G (p.Leu507Trp)
c.1424T>G (p.Leu475Trp)
c.8370+123928A>C (n.8370+123928A>C)
 ClinVar
2g.108896974A>GCA348047660EDAR,RANBP2c.1280T>C (p.Leu427Ser)
c.1376T>C (p.Leu459Ser)
c.1427T>C (p.Leu476Ser)
c.1331T>C (p.Leu444Ser)
c.707T>C (p.Leu236Ser)
c.1520T>C (p.Leu507Ser)
c.1424T>C (p.Leu475Ser)
c.8370+123928A>G (n.8370+123928A>G)
 ClinVar
2g.108896974A>TCA348047658EDAR,RANBP2c.1280T>A (p.Leu427Ter)
c.1376T>A (p.Leu459Ter)
c.1427T>A (p.Leu476Ter)
c.1331T>A (p.Leu444Ter)
c.707T>A (p.Leu236Ter)
c.1520T>A (p.Leu507Ter)
c.1424T>A (p.Leu475Ter)
c.8370+123928A>T (n.8370+123928A>T)
2g.108896975A>CCA348047663EDAR,RANBP2c.1279T>G (p.Leu427Val)
c.1375T>G (p.Leu459Val)
c.1426T>G (p.Leu476Val)
c.1330T>G (p.Leu444Val)
c.706T>G (p.Leu236Val)
c.1519T>G (p.Leu507Val)
c.1423T>G (p.Leu475Val)
c.8370+123929A>C (n.8370+123929A>C)
2g.108896975A>GCA428203907EDAR,RANBP2c.1279T>C (p.Leu427=)
c.1375T>C (p.Leu459=)
c.1426T>C (p.Leu476=)
c.1330T>C (p.Leu444=)
c.706T>C (p.Leu236=)
c.1519T>C (p.Leu507=)
c.1423T>C (p.Leu475=)
c.8370+123929A>G (n.8370+123929A>G)
2g.108896975A>TCA348047665EDAR,RANBP2c.1279T>A (p.Leu427Met)
c.1375T>A (p.Leu459Met)
c.1426T>A (p.Leu476Met)
c.1330T>A (p.Leu444Met)
c.706T>A (p.Leu236Met)
c.1519T>A (p.Leu507Met)
c.1423T>A (p.Leu475Met)
c.8370+123929A>T (n.8370+123929A>T)
2g.108896976G>ACA428203909EDAR,RANBP2c.1278C>T (p.Ser426=)
c.1374C>T (p.Ser458=)
c.1425C>T (p.Ser475=)
c.1329C>T (p.Ser443=)
c.705C>T (p.Ser235=)
c.1518C>T (p.Ser506=)
c.1422C>T (p.Ser474=)
c.8370+123930G>A (n.8370+123930G>A)
2g.108896976G>CCA428203910EDAR,RANBP2c.1278C>G (p.Ser426=)
c.1374C>G (p.Ser458=)
c.1425C>G (p.Ser475=)
c.1329C>G (p.Ser443=)
c.705C>G (p.Ser235=)
c.1518C>G (p.Ser506=)
c.1422C>G (p.Ser474=)
c.8370+123930G>C (n.8370+123930G>C)
 gnomAD v4
2g.108896976G>TCA428203911EDAR,RANBP2c.1278C>A (p.Ser426=)
c.1374C>A (p.Ser458=)
c.1425C>A (p.Ser475=)
c.1329C>A (p.Ser443=)
c.705C>A (p.Ser235=)
c.1518C>A (p.Ser506=)
c.1422C>A (p.Ser474=)
c.8370+123930G>T (n.8370+123930G>T)
 COSMIC COSMIC
2g.108896977G>ACA1824793EDAR,RANBP2c.1277C>T (p.Ser426Phe)
c.1373C>T (p.Ser458Phe)
c.1424C>T (p.Ser475Phe)
c.1328C>T (p.Ser443Phe)
c.704C>T (p.Ser235Phe)
c.1517C>T (p.Ser506Phe)
c.1421C>T (p.Ser474Phe)
c.8370+123931G>A (n.8370+123931G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108896977G>CCA348047667EDAR,RANBP2c.1277C>G (p.Ser426Cys)
c.1373C>G (p.Ser458Cys)
c.1424C>G (p.Ser475Cys)
c.1328C>G (p.Ser443Cys)
c.704C>G (p.Ser235Cys)
c.1517C>G (p.Ser506Cys)
c.1421C>G (p.Ser474Cys)
c.8370+123931G>C (n.8370+123931G>C)
2g.108896977G=CA1278354223EDAR,RANBP2c.1277C= (p.Ser426=)
c.1373C= (p.Ser458=)
c.1424C= (p.Ser475=)
c.1328C= (p.Ser443=)
c.704C= (p.Ser235=)
c.1517C= (p.Ser506=)
c.1421C= (p.Ser474=)
c.8370+123931G= (n.8370+123931G=)
2g.108896977G>TCA348047669EDAR,RANBP2c.1277C>A (p.Ser426Tyr)
c.1373C>A (p.Ser458Tyr)
c.1424C>A (p.Ser475Tyr)
c.1328C>A (p.Ser443Tyr)
c.704C>A (p.Ser235Tyr)
c.1517C>A (p.Ser506Tyr)
c.1421C>A (p.Ser474Tyr)
c.8370+123931G>T (n.8370+123931G>T)
2g.108896978A=CA1278354224EDAR,RANBP2c.1276T= (p.Ser426=)
c.1372T= (p.Ser458=)
c.1423T= (p.Ser475=)
c.1327T= (p.Ser443=)
c.703T= (p.Ser235=)
c.1516T= (p.Ser506=)
c.1420T= (p.Ser474=)
c.8370+123932A= (n.8370+123932A=)
2g.108896978A>CCA348047671EDAR,RANBP2c.1276T>G (p.Ser426Ala)
c.1372T>G (p.Ser458Ala)
c.1423T>G (p.Ser475Ala)
c.1327T>G (p.Ser443Ala)
c.703T>G (p.Ser235Ala)
c.1516T>G (p.Ser506Ala)
c.1420T>G (p.Ser474Ala)
c.8370+123932A>C (n.8370+123932A>C)
 dbSNP
2g.108896978A>GCA348047673EDAR,RANBP2c.1276T>C (p.Ser426Pro)
c.1372T>C (p.Ser458Pro)
c.1423T>C (p.Ser475Pro)
c.1327T>C (p.Ser443Pro)
c.703T>C (p.Ser235Pro)
c.1516T>C (p.Ser506Pro)
c.1420T>C (p.Ser474Pro)
c.8370+123932A>G (n.8370+123932A>G)
2g.108896978A>TCA348047675EDAR,RANBP2c.1276T>A (p.Ser426Thr)
c.1372T>A (p.Ser458Thr)
c.1423T>A (p.Ser475Thr)
c.1327T>A (p.Ser443Thr)
c.703T>A (p.Ser235Thr)
c.1516T>A (p.Ser506Thr)
c.1420T>A (p.Ser474Thr)
c.8370+123932A>T (n.8370+123932A>T)
2g.108896979C>ACA348047677EDAR,RANBP2c.1275G>T (p.Glu425Asp)
c.1371G>T (p.Glu457Asp)
c.1422G>T (p.Glu474Asp)
c.1326G>T (p.Glu442Asp)
c.702G>T (p.Glu234Asp)
c.1515G>T (p.Glu505Asp)
c.1419G>T (p.Glu473Asp)
c.8370+123933C>A (n.8370+123933C>A)
 gnomAD v4
2g.108896979C>GCA348047679EDAR,RANBP2c.1275G>C (p.Glu425Asp)
c.1371G>C (p.Glu457Asp)
c.1422G>C (p.Glu474Asp)
c.1326G>C (p.Glu442Asp)
c.702G>C (p.Glu234Asp)
c.1515G>C (p.Glu505Asp)
c.1419G>C (p.Glu473Asp)
c.8370+123933C>G (n.8370+123933C>G)
2g.108896979C>TCA428203913EDAR,RANBP2c.1275G>A (p.Glu425=)
c.1371G>A (p.Glu457=)
c.1422G>A (p.Glu474=)
c.1326G>A (p.Glu442=)
c.702G>A (p.Glu234=)
c.1515G>A (p.Glu505=)
c.1419G>A (p.Glu473=)
c.8370+123933C>T (n.8370+123933C>T)
2g.108896980T>ACA348047681EDAR,RANBP2c.1274A>T (p.Glu425Val)
c.1370A>T (p.Glu457Val)
c.1421A>T (p.Glu474Val)
c.1325A>T (p.Glu442Val)
c.701A>T (p.Glu234Val)
c.1514A>T (p.Glu505Val)
c.1418A>T (p.Glu473Val)
c.8370+123934T>A (n.8370+123934T>A)
2g.108896980T>CCA348047683EDAR,RANBP2c.1274A>G (p.Glu425Gly)
c.1370A>G (p.Glu457Gly)
c.1421A>G (p.Glu474Gly)
c.1325A>G (p.Glu442Gly)
c.701A>G (p.Glu234Gly)
c.1514A>G (p.Glu505Gly)
c.1418A>G (p.Glu473Gly)
c.8370+123934T>C (n.8370+123934T>C)
2g.108896980T>GCA348047685EDAR,RANBP2c.1274A>C (p.Glu425Ala)
c.1370A>C (p.Glu457Ala)
c.1421A>C (p.Glu474Ala)
c.1325A>C (p.Glu442Ala)
c.701A>C (p.Glu234Ala)
c.1514A>C (p.Glu505Ala)
c.1418A>C (p.Glu473Ala)
c.8370+123934T>G (n.8370+123934T>G)
2g.108896981C>ACA348047691EDAR,RANBP2c.1273G>T (p.Glu425Ter)
c.1369G>T (p.Glu457Ter)
c.1420G>T (p.Glu474Ter)
c.1324G>T (p.Glu442Ter)
c.700G>T (p.Glu234Ter)
c.1513G>T (p.Glu505Ter)
c.1417G>T (p.Glu473Ter)
c.8370+123935C>A (n.8370+123935C>A)
2g.108896981C>GCA348047687EDAR,RANBP2c.1273G>C (p.Glu425Gln)
c.1369G>C (p.Glu457Gln)
c.1420G>C (p.Glu474Gln)
c.1324G>C (p.Glu442Gln)
c.700G>C (p.Glu234Gln)
c.1513G>C (p.Glu505Gln)
c.1417G>C (p.Glu473Gln)
c.8370+123935C>G (n.8370+123935C>G)
2g.108896981C>TCA348047689EDAR,RANBP2c.1273G>A (p.Glu425Lys)
c.1369G>A (p.Glu457Lys)
c.1420G>A (p.Glu474Lys)
c.1324G>A (p.Glu442Lys)
c.700G>A (p.Glu234Lys)
c.1513G>A (p.Glu505Lys)
c.1417G>A (p.Glu473Lys)
c.8370+123935C>T (n.8370+123935C>T)
 ClinVar dbSNP
2g.108896982C>ACA428203918EDAR,RANBP2c.1272G>T (p.Val424=)
c.1368G>T (p.Val456=)
c.1419G>T (p.Val473=)
c.1323G>T (p.Val441=)
c.699G>T (p.Val233=)
c.1512G>T (p.Val504=)
c.1416G>T (p.Val472=)
c.8370+123936C>A (n.8370+123936C>A)

Number of alleles fetched