Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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)
2g.108896982C=CA1278354225EDAR,RANBP2c.1272G= (p.Val424=)
c.1368G= (p.Val456=)
c.1419G= (p.Val473=)
c.1323G= (p.Val441=)
c.699G= (p.Val233=)
c.1512G= (p.Val504=)
c.1416G= (p.Val472=)
c.8370+123936C= (n.8370+123936C=)
2g.108896982C>GCA428203917EDAR,RANBP2c.1272G>C (p.Val424=)
c.1368G>C (p.Val456=)
c.1419G>C (p.Val473=)
c.1323G>C (p.Val441=)
c.699G>C (p.Val233=)
c.1512G>C (p.Val504=)
c.1416G>C (p.Val472=)
c.8370+123936C>G (n.8370+123936C>G)
2g.108896982C>TCA1824794EDAR,RANBP2c.1272G>A (p.Val424=)
c.1368G>A (p.Val456=)
c.1419G>A (p.Val473=)
c.1323G>A (p.Val441=)
c.699G>A (p.Val233=)
c.1512G>A (p.Val504=)
c.1416G>A (p.Val472=)
c.8370+123936C>T (n.8370+123936C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896983A>CCA348047695EDAR,RANBP2c.1271T>G (p.Val424Gly)
c.1367T>G (p.Val456Gly)
c.1418T>G (p.Val473Gly)
c.1322T>G (p.Val441Gly)
c.698T>G (p.Val233Gly)
c.1511T>G (p.Val504Gly)
c.1415T>G (p.Val472Gly)
c.8370+123937A>C (n.8370+123937A>C)
2g.108896983A>GCA348047698EDAR,RANBP2c.1271T>C (p.Val424Ala)
c.1367T>C (p.Val456Ala)
c.1418T>C (p.Val473Ala)
c.1322T>C (p.Val441Ala)
c.698T>C (p.Val233Ala)
c.1511T>C (p.Val504Ala)
c.1415T>C (p.Val472Ala)
c.8370+123937A>G (n.8370+123937A>G)
2g.108896983A>TCA348047700EDAR,RANBP2c.1271T>A (p.Val424Glu)
c.1367T>A (p.Val456Glu)
c.1418T>A (p.Val473Glu)
c.1322T>A (p.Val441Glu)
c.698T>A (p.Val233Glu)
c.1511T>A (p.Val504Glu)
c.1415T>A (p.Val472Glu)
c.8370+123937A>T (n.8370+123937A>T)
2g.108896984C>ACA348047702EDAR,RANBP2c.1270G>T (p.Val424Leu)
c.1366G>T (p.Val456Leu)
c.1417G>T (p.Val473Leu)
c.1321G>T (p.Val441Leu)
c.697G>T (p.Val233Leu)
c.1510G>T (p.Val504Leu)
c.1414G>T (p.Val472Leu)
c.8370+123938C>A (n.8370+123938C>A)
2g.108896984C=CA1278354226EDAR,RANBP2c.1270G= (p.Val424=)
c.1366G= (p.Val456=)
c.1417G= (p.Val473=)
c.1321G= (p.Val441=)
c.697G= (p.Val233=)
c.1510G= (p.Val504=)
c.1414G= (p.Val472=)
c.8370+123938C= (n.8370+123938C=)
2g.108896984C>GCA348047704EDAR,RANBP2c.1270G>C (p.Val424Leu)
c.1366G>C (p.Val456Leu)
c.1417G>C (p.Val473Leu)
c.1321G>C (p.Val441Leu)
c.697G>C (p.Val233Leu)
c.1510G>C (p.Val504Leu)
c.1414G>C (p.Val472Leu)
c.8370+123938C>G (n.8370+123938C>G)
2g.108896984C>TCA348047707EDAR,RANBP2c.1270G>A (p.Val424Met)
c.1366G>A (p.Val456Met)
c.1417G>A (p.Val473Met)
c.1321G>A (p.Val441Met)
c.697G>A (p.Val233Met)
c.1510G>A (p.Val504Met)
c.1414G>A (p.Val472Met)
c.8370+123938C>T (n.8370+123938C>T)
 ClinVar dbSNP
2g.108896985A=CA1278354227EDAR,RANBP2c.1269T= (p.Ala423=)
c.1365T= (p.Ala455=)
c.1416T= (p.Ala472=)
c.1320T= (p.Ala440=)
c.696T= (p.Ala232=)
c.1509T= (p.Ala503=)
c.1413T= (p.Ala471=)
c.8370+123939A= (n.8370+123939A=)
2g.108896985A>CCA428203921EDAR,RANBP2c.1269T>G (p.Ala423=)
c.1365T>G (p.Ala455=)
c.1416T>G (p.Ala472=)
c.1320T>G (p.Ala440=)
c.696T>G (p.Ala232=)
c.1509T>G (p.Ala503=)
c.1413T>G (p.Ala471=)
c.8370+123939A>C (n.8370+123939A>C)
2g.108896985A>GCA1824795EDAR,RANBP2c.1269T>C (p.Ala423=)
c.1365T>C (p.Ala455=)
c.1416T>C (p.Ala472=)
c.1320T>C (p.Ala440=)
c.696T>C (p.Ala232=)
c.1509T>C (p.Ala503=)
c.1413T>C (p.Ala471=)
c.8370+123939A>G (n.8370+123939A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108896985A>TCA428203922EDAR,RANBP2c.1269T>A (p.Ala423=)
c.1365T>A (p.Ala455=)
c.1416T>A (p.Ala472=)
c.1320T>A (p.Ala440=)
c.696T>A (p.Ala232=)
c.1509T>A (p.Ala503=)
c.1413T>A (p.Ala471=)
c.8370+123939A>T (n.8370+123939A>T)
2g.108896986G>ACA348047711EDAR,RANBP2c.1268C>T (p.Ala423Val)
c.1364C>T (p.Ala455Val)
c.1415C>T (p.Ala472Val)
c.1319C>T (p.Ala440Val)
c.695C>T (p.Ala232Val)
c.1508C>T (p.Ala503Val)
c.1412C>T (p.Ala471Val)
c.8370+123940G>A (n.8370+123940G>A)
2g.108896986G>CCA348047712EDAR,RANBP2c.1268C>G (p.Ala423Gly)
c.1364C>G (p.Ala455Gly)
c.1415C>G (p.Ala472Gly)
c.1319C>G (p.Ala440Gly)
c.695C>G (p.Ala232Gly)
c.1508C>G (p.Ala503Gly)
c.1412C>G (p.Ala471Gly)
c.8370+123940G>C (n.8370+123940G>C)
2g.108896986G>TCA348047715EDAR,RANBP2c.1268C>A (p.Ala423Asp)
c.1364C>A (p.Ala455Asp)
c.1415C>A (p.Ala472Asp)
c.1319C>A (p.Ala440Asp)
c.695C>A (p.Ala232Asp)
c.1508C>A (p.Ala503Asp)
c.1412C>A (p.Ala471Asp)
c.8370+123940G>T (n.8370+123940G>T)
2g.108896987C>ACA348047721EDAR,RANBP2c.1267G>T (p.Ala423Ser)
c.1363G>T (p.Ala455Ser)
c.1414G>T (p.Ala472Ser)
c.1318G>T (p.Ala440Ser)
c.694G>T (p.Ala232Ser)
c.1507G>T (p.Ala503Ser)
c.1411G>T (p.Ala471Ser)
c.8370+123941C>A (n.8370+123941C>A)
2g.108896987C>GCA348047719EDAR,RANBP2c.1267G>C (p.Ala423Pro)
c.1363G>C (p.Ala455Pro)
c.1414G>C (p.Ala472Pro)
c.1318G>C (p.Ala440Pro)
c.694G>C (p.Ala232Pro)
c.1507G>C (p.Ala503Pro)
c.1411G>C (p.Ala471Pro)
c.8370+123941C>G (n.8370+123941C>G)
2g.108896987C>TCA348047717EDAR,RANBP2c.1267G>A (p.Ala423Thr)
c.1363G>A (p.Ala455Thr)
c.1414G>A (p.Ala472Thr)
c.1318G>A (p.Ala440Thr)
c.694G>A (p.Ala232Thr)
c.1507G>A (p.Ala503Thr)
c.1411G>A (p.Ala471Thr)
c.8370+123941C>T (n.8370+123941C>T)
 ClinVar COSMIC
2g.108896988A>CCA348047723EDAR,RANBP2c.1266T>G (p.Asp422Glu)
c.1362T>G (p.Asp454Glu)
c.1413T>G (p.Asp471Glu)
c.1317T>G (p.Asp439Glu)
c.693T>G (p.Asp231Glu)
c.1506T>G (p.Asp502Glu)
c.1410T>G (p.Asp470Glu)
c.8370+123942A>C (n.8370+123942A>C)
2g.108896988A>GCA428203924EDAR,RANBP2c.1266T>C (p.Asp422=)
c.1362T>C (p.Asp454=)
c.1413T>C (p.Asp471=)
c.1317T>C (p.Asp439=)
c.693T>C (p.Asp231=)
c.1506T>C (p.Asp502=)
c.1410T>C (p.Asp470=)
c.8370+123942A>G (n.8370+123942A>G)
2g.108896988A>TCA348047725EDAR,RANBP2c.1266T>A (p.Asp422Glu)
c.1362T>A (p.Asp454Glu)
c.1413T>A (p.Asp471Glu)
c.1317T>A (p.Asp439Glu)
c.693T>A (p.Asp231Glu)
c.1506T>A (p.Asp502Glu)
c.1410T>A (p.Asp470Glu)
c.8370+123942A>T (n.8370+123942A>T)
2g.108896989T>ACA348047727EDAR,RANBP2c.1265A>T (p.Asp422Val)
c.1361A>T (p.Asp454Val)
c.1412A>T (p.Asp471Val)
c.1316A>T (p.Asp439Val)
c.692A>T (p.Asp231Val)
c.1505A>T (p.Asp502Val)
c.1409A>T (p.Asp470Val)
c.8370+123943T>A (n.8370+123943T>A)
2g.108896989T>CCA348047729EDAR,RANBP2c.1265A>G (p.Asp422Gly)
c.1361A>G (p.Asp454Gly)
c.1412A>G (p.Asp471Gly)
c.1316A>G (p.Asp439Gly)
c.692A>G (p.Asp231Gly)
c.1505A>G (p.Asp502Gly)
c.1409A>G (p.Asp470Gly)
c.8370+123943T>C (n.8370+123943T>C)
2g.108896989T>GCA348047731EDAR,RANBP2c.1265A>C (p.Asp422Ala)
c.1361A>C (p.Asp454Ala)
c.1412A>C (p.Asp471Ala)
c.1316A>C (p.Asp439Ala)
c.692A>C (p.Asp231Ala)
c.1505A>C (p.Asp502Ala)
c.1409A>C (p.Asp470Ala)
c.8370+123943T>G (n.8370+123943T>G)
2g.108896990C>ACA348047733EDAR,RANBP2c.1264G>T (p.Asp422Tyr)
c.1360G>T (p.Asp454Tyr)
c.1411G>T (p.Asp471Tyr)
c.1315G>T (p.Asp439Tyr)
c.691G>T (p.Asp231Tyr)
c.1504G>T (p.Asp502Tyr)
c.1408G>T (p.Asp470Tyr)
c.8370+123944C>A (n.8370+123944C>A)
 ClinVar
2g.108896990C=CA1278354228EDAR,RANBP2c.1264G= (p.Asp422=)
c.1360G= (p.Asp454=)
c.1411G= (p.Asp471=)
c.1315G= (p.Asp439=)
c.691G= (p.Asp231=)
c.1504G= (p.Asp502=)
c.1408G= (p.Asp470=)
c.8370+123944C= (n.8370+123944C=)
2g.108896990C>GCA348047735EDAR,RANBP2c.1264G>C (p.Asp422His)
c.1360G>C (p.Asp454His)
c.1411G>C (p.Asp471His)
c.1315G>C (p.Asp439His)
c.691G>C (p.Asp231His)
c.1504G>C (p.Asp502His)
c.1408G>C (p.Asp470His)
c.8370+123944C>G (n.8370+123944C>G)
2g.108896990C>TCA348047737EDAR,RANBP2c.1264G>A (p.Asp422Asn)
c.1360G>A (p.Asp454Asn)
c.1411G>A (p.Asp471Asn)
c.1315G>A (p.Asp439Asn)
c.691G>A (p.Asp231Asn)
c.1504G>A (p.Asp502Asn)
c.1408G>A (p.Asp470Asn)
c.8370+123944C>T (n.8370+123944C>T)
 ClinVar dbSNP gnomAD v4
2g.108896991C>ACA428203926EDAR,RANBP2c.1263G>T (p.Leu421=)
c.1359G>T (p.Leu453=)
c.1410G>T (p.Leu470=)
c.1314G>T (p.Leu438=)
c.690G>T (p.Leu230=)
c.1503G>T (p.Leu501=)
c.1407G>T (p.Leu469=)
c.8370+123945C>A (n.8370+123945C>A)
2g.108896991C=CA1278354229EDAR,RANBP2c.1263G= (p.Leu421=)
c.1359G= (p.Leu453=)
c.1410G= (p.Leu470=)
c.1314G= (p.Leu438=)
c.690G= (p.Leu230=)
c.1503G= (p.Leu501=)
c.1407G= (p.Leu469=)
c.8370+123945C= (n.8370+123945C=)
2g.108896991C>GCA428203927EDAR,RANBP2c.1263G>C (p.Leu421=)
c.1359G>C (p.Leu453=)
c.1410G>C (p.Leu470=)
c.1314G>C (p.Leu438=)
c.690G>C (p.Leu230=)
c.1503G>C (p.Leu501=)
c.1407G>C (p.Leu469=)
c.8370+123945C>G (n.8370+123945C>G)
2g.108896991C>TCA53464687EDAR,RANBP2c.1263G>A (p.Leu421=)
c.1359G>A (p.Leu453=)
c.1410G>A (p.Leu470=)
c.1314G>A (p.Leu438=)
c.690G>A (p.Leu230=)
c.1503G>A (p.Leu501=)
c.1407G>A (p.Leu469=)
c.8370+123945C>T (n.8370+123945C>T)
 dbSNP gnomAD v2
2g.108896992A>CCA348047739EDAR,RANBP2c.1262T>G (p.Leu421Arg)
c.1358T>G (p.Leu453Arg)
c.1409T>G (p.Leu470Arg)
c.1313T>G (p.Leu438Arg)
c.689T>G (p.Leu230Arg)
c.1502T>G (p.Leu501Arg)
c.1406T>G (p.Leu469Arg)
c.8370+123946A>C (n.8370+123946A>C)
2g.108896992A>GCA348047741EDAR,RANBP2c.1262T>C (p.Leu421Pro)
c.1358T>C (p.Leu453Pro)
c.1409T>C (p.Leu470Pro)
c.1313T>C (p.Leu438Pro)
c.689T>C (p.Leu230Pro)
c.1502T>C (p.Leu501Pro)
c.1406T>C (p.Leu469Pro)
c.8370+123946A>G (n.8370+123946A>G)
2g.108896992A>TCA348047743EDAR,RANBP2c.1262T>A (p.Leu421Gln)
c.1358T>A (p.Leu453Gln)
c.1409T>A (p.Leu470Gln)
c.1313T>A (p.Leu438Gln)
c.689T>A (p.Leu230Gln)
c.1502T>A (p.Leu501Gln)
c.1406T>A (p.Leu469Gln)
c.8370+123946A>T (n.8370+123946A>T)
2g.108896993G>ACA428203931EDAR,RANBP2c.1261C>T (p.Leu421=)
c.1357C>T (p.Leu453=)
c.1408C>T (p.Leu470=)
c.1312C>T (p.Leu438=)
c.688C>T (p.Leu230=)
c.1501C>T (p.Leu501=)
c.1405C>T (p.Leu469=)
c.8370+123947G>A (n.8370+123947G>A)
2g.108896993G>CCA348047745EDAR,RANBP2c.1261C>G (p.Leu421Val)
c.1357C>G (p.Leu453Val)
c.1408C>G (p.Leu470Val)
c.1312C>G (p.Leu438Val)
c.688C>G (p.Leu230Val)
c.1501C>G (p.Leu501Val)
c.1405C>G (p.Leu469Val)
c.8370+123947G>C (n.8370+123947G>C)
2g.108896993G>TCA348047747EDAR,RANBP2c.1261C>A (p.Leu421Met)
c.1357C>A (p.Leu453Met)
c.1408C>A (p.Leu470Met)
c.1312C>A (p.Leu438Met)
c.688C>A (p.Leu230Met)
c.1501C>A (p.Leu501Met)
c.1405C>A (p.Leu469Met)
c.8370+123947G>T (n.8370+123947G>T)
 gnomAD v4
2g.108896994C>ACA428203932EDAR,RANBP2c.1260G>T (p.Arg420=)
c.1356G>T (p.Arg452=)
c.1407G>T (p.Arg469=)
c.1311G>T (p.Arg437=)
c.687G>T (p.Arg229=)
c.1500G>T (p.Arg500=)
c.1404G>T (p.Arg468=)
c.8370+123948C>A (n.8370+123948C>A)
2g.108896994C>GCA428203933EDAR,RANBP2c.1260G>C (p.Arg420=)
c.1356G>C (p.Arg452=)
c.1407G>C (p.Arg469=)
c.1311G>C (p.Arg437=)
c.687G>C (p.Arg229=)
c.1500G>C (p.Arg500=)
c.1404G>C (p.Arg468=)
c.8370+123948C>G (n.8370+123948C>G)
2g.108896994C>TCA428203934EDAR,RANBP2c.1260G>A (p.Arg420=)
c.1356G>A (p.Arg452=)
c.1407G>A (p.Arg469=)
c.1311G>A (p.Arg437=)
c.687G>A (p.Arg229=)
c.1500G>A (p.Arg500=)
c.1404G>A (p.Arg468=)
c.8370+123948C>T (n.8370+123948C>T)
2g.108896995delCA2660593403EDAR,RANBP2c.1260del (p.Leu421TrpfsTer?)
c.1356del (p.Leu453TrpfsTer?)
c.1407del (p.Leu470TrpfsTer?)
c.1311del (p.Leu438TrpfsTer?)
c.687del (p.Leu230TrpfsTer?)
c.1500del (p.Leu501TrpfsTer?)
c.1404del (p.Leu469TrpfsTer?)
c.8370+123949del (n.8370+123949del)
 gnomAD v4
2g.108896995C>ACA348047752EDAR,RANBP2c.1259G>T (p.Arg420Leu)
c.1355G>T (p.Arg452Leu)
c.1406G>T (p.Arg469Leu)
c.1310G>T (p.Arg437Leu)
c.686G>T (p.Arg229Leu)
c.1499G>T (p.Arg500Leu)
c.1403G>T (p.Arg468Leu)
c.8370+123949C>A (n.8370+123949C>A)
2g.108896995C=CA1278354230EDAR,RANBP2c.1259G= (p.Arg420=)
c.1355G= (p.Arg452=)
c.1406G= (p.Arg469=)
c.1310G= (p.Arg437=)
c.686G= (p.Arg229=)
c.1499G= (p.Arg500=)
c.1403G= (p.Arg468=)
c.8370+123949C= (n.8370+123949C=)
2g.108896995C>GCA348047750EDAR,RANBP2c.1259G>C (p.Arg420Pro)
c.1355G>C (p.Arg452Pro)
c.1406G>C (p.Arg469Pro)
c.1310G>C (p.Arg437Pro)
c.686G>C (p.Arg229Pro)
c.1499G>C (p.Arg500Pro)
c.1403G>C (p.Arg468Pro)
c.8370+123949C>G (n.8370+123949C>G)
2g.108896995C>TCA117810EDAR,RANBP2c.1259G>A (p.Arg420Gln)
c.1355G>A (p.Arg452Gln)
c.1406G>A (p.Arg469Gln)
c.1310G>A (p.Arg437Gln)
c.686G>A (p.Arg229Gln)
c.1499G>A (p.Arg500Gln)
c.1403G>A (p.Arg468Gln)
c.8370+123949C>T (n.8370+123949C>T)
 ClinVar dbSNP
2g.108896996G>ACA348047754EDAR,RANBP2c.1258C>T (p.Arg420Trp)
c.1354C>T (p.Arg452Trp)
c.1405C>T (p.Arg469Trp)
c.1309C>T (p.Arg437Trp)
c.685C>T (p.Arg229Trp)
c.1498C>T (p.Arg500Trp)
c.1402C>T (p.Arg468Trp)
c.8370+123950G>A (n.8370+123950G>A)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.108896996G>CCA348047755EDAR,RANBP2c.1258C>G (p.Arg420Gly)
c.1354C>G (p.Arg452Gly)
c.1405C>G (p.Arg469Gly)
c.1309C>G (p.Arg437Gly)
c.685C>G (p.Arg229Gly)
c.1498C>G (p.Arg500Gly)
c.1402C>G (p.Arg468Gly)
c.8370+123950G>C (n.8370+123950G>C)
2g.108896996G=CA1278354231EDAR,RANBP2c.1258C= (p.Arg420=)
c.1354C= (p.Arg452=)
c.1405C= (p.Arg469=)
c.1309C= (p.Arg437=)
c.685C= (p.Arg229=)
c.1498C= (p.Arg500=)
c.1402C= (p.Arg468=)
c.8370+123950G= (n.8370+123950G=)
2g.108896996G>TCA428203936EDAR,RANBP2c.1258C>A (p.Arg420=)
c.1354C>A (p.Arg452=)
c.1405C>A (p.Arg469=)
c.1309C>A (p.Arg437=)
c.685C>A (p.Arg229=)
c.1498C>A (p.Arg500=)
c.1402C>A (p.Arg468=)
c.8370+123950G>T (n.8370+123950G>T)
2g.108896997C>ACA348047757EDAR,RANBP2c.1257G>T (p.Glu419Asp)
c.1353G>T (p.Glu451Asp)
c.1404G>T (p.Glu468Asp)
c.1308G>T (p.Glu436Asp)
c.684G>T (p.Glu228Asp)
c.1497G>T (p.Glu499Asp)
c.1401G>T (p.Glu467Asp)
c.8370+123951C>A (n.8370+123951C>A)
2g.108896997C>GCA348047758EDAR,RANBP2c.1257G>C (p.Glu419Asp)
c.1353G>C (p.Glu451Asp)
c.1404G>C (p.Glu468Asp)
c.1308G>C (p.Glu436Asp)
c.684G>C (p.Glu228Asp)
c.1497G>C (p.Glu499Asp)
c.1401G>C (p.Glu467Asp)
c.8370+123951C>G (n.8370+123951C>G)
2g.108896997C>TCA428203937EDAR,RANBP2c.1257G>A (p.Glu419=)
c.1353G>A (p.Glu451=)
c.1404G>A (p.Glu468=)
c.1308G>A (p.Glu436=)
c.684G>A (p.Glu228=)
c.1497G>A (p.Glu499=)
c.1401G>A (p.Glu467=)
c.8370+123951C>T (n.8370+123951C>T)
 gnomAD v4
2g.108896998T>ACA348047760EDAR,RANBP2c.1256A>T (p.Glu419Val)
c.1352A>T (p.Glu451Val)
c.1403A>T (p.Glu468Val)
c.1307A>T (p.Glu436Val)
c.683A>T (p.Glu228Val)
c.1496A>T (p.Glu499Val)
c.1400A>T (p.Glu467Val)
c.8370+123952T>A (n.8370+123952T>A)
2g.108896998T>CCA348047762EDAR,RANBP2c.1256A>G (p.Glu419Gly)
c.1352A>G (p.Glu451Gly)
c.1403A>G (p.Glu468Gly)
c.1307A>G (p.Glu436Gly)
c.683A>G (p.Glu228Gly)
c.1496A>G (p.Glu499Gly)
c.1400A>G (p.Glu467Gly)
c.8370+123952T>C (n.8370+123952T>C)
2g.108896998T>GCA348047764EDAR,RANBP2c.1256A>C (p.Glu419Ala)
c.1352A>C (p.Glu451Ala)
c.1403A>C (p.Glu468Ala)
c.1307A>C (p.Glu436Ala)
c.683A>C (p.Glu228Ala)
c.1496A>C (p.Glu499Ala)
c.1400A>C (p.Glu467Ala)
c.8370+123952T>G (n.8370+123952T>G)
2g.108896999C>ACA348047767EDAR,RANBP2c.1255G>T (p.Glu419Ter)
c.1351G>T (p.Glu451Ter)
c.1402G>T (p.Glu468Ter)
c.1306G>T (p.Glu436Ter)
c.682G>T (p.Glu228Ter)
c.1495G>T (p.Glu499Ter)
c.1399G>T (p.Glu467Ter)
c.8370+123953C>A (n.8370+123953C>A)
 gnomAD v4
2g.108896999C>GCA348047769EDAR,RANBP2c.1255G>C (p.Glu419Gln)
c.1351G>C (p.Glu451Gln)
c.1402G>C (p.Glu468Gln)
c.1306G>C (p.Glu436Gln)
c.682G>C (p.Glu228Gln)
c.1495G>C (p.Glu499Gln)
c.1399G>C (p.Glu467Gln)
c.8370+123953C>G (n.8370+123953C>G)
2g.108896999C>TCA348047771EDAR,RANBP2c.1255G>A (p.Glu419Lys)
c.1351G>A (p.Glu451Lys)
c.1402G>A (p.Glu468Lys)
c.1306G>A (p.Glu436Lys)
c.682G>A (p.Glu228Lys)
c.1495G>A (p.Glu499Lys)
c.1399G>A (p.Glu467Lys)
c.8370+123953C>T (n.8370+123953C>T)
2g.108897000A>CCA348047773EDAR,RANBP2c.1254T>G (p.Ile418Met)
c.1350T>G (p.Ile450Met)
c.1401T>G (p.Ile467Met)
c.1305T>G (p.Ile435Met)
c.681T>G (p.Ile227Met)
c.1494T>G (p.Ile498Met)
c.1398T>G (p.Ile466Met)
c.8370+123954A>C (n.8370+123954A>C)
2g.108897000A>GCA428203939EDAR,RANBP2c.1254T>C (p.Ile418=)
c.1350T>C (p.Ile450=)
c.1401T>C (p.Ile467=)
c.1305T>C (p.Ile435=)
c.681T>C (p.Ile227=)
c.1494T>C (p.Ile498=)
c.1398T>C (p.Ile466=)
c.8370+123954A>G (n.8370+123954A>G)
2g.108897000A>TCA428203940EDAR,RANBP2c.1254T>A (p.Ile418=)
c.1350T>A (p.Ile450=)
c.1401T>A (p.Ile467=)
c.1305T>A (p.Ile435=)
c.681T>A (p.Ile227=)
c.1494T>A (p.Ile498=)
c.1398T>A (p.Ile466=)
c.8370+123954A>T (n.8370+123954A>T)
2g.108897001A=CA1278354232EDAR,RANBP2c.1253T= (p.Ile418=)
c.1349T= (p.Ile450=)
c.1400T= (p.Ile467=)
c.1304T= (p.Ile435=)
c.680T= (p.Ile227=)
c.1493T= (p.Ile498=)
c.1397T= (p.Ile466=)
c.8370+123955A= (n.8370+123955A=)
2g.108897001A>CCA348047775EDAR,RANBP2c.1253T>G (p.Ile418Ser)
c.1349T>G (p.Ile450Ser)
c.1400T>G (p.Ile467Ser)
c.1304T>G (p.Ile435Ser)
c.680T>G (p.Ile227Ser)
c.1493T>G (p.Ile498Ser)
c.1397T>G (p.Ile466Ser)
c.8370+123955A>C (n.8370+123955A>C)
2g.108897001A>GCA348047777EDAR,RANBP2c.1253T>C (p.Ile418Thr)
c.1349T>C (p.Ile450Thr)
c.1400T>C (p.Ile467Thr)
c.1304T>C (p.Ile435Thr)
c.680T>C (p.Ile227Thr)
c.1493T>C (p.Ile498Thr)
c.1397T>C (p.Ile466Thr)
c.8370+123955A>G (n.8370+123955A>G)
 dbSNP
2g.108897001A>TCA348047779EDAR,RANBP2c.1253T>A (p.Ile418Asn)
c.1349T>A (p.Ile450Asn)
c.1400T>A (p.Ile467Asn)
c.1304T>A (p.Ile435Asn)
c.680T>A (p.Ile227Asn)
c.1493T>A (p.Ile498Asn)
c.1397T>A (p.Ile466Asn)
c.8370+123955A>T (n.8370+123955A>T)
2g.108897002T>ACA348047782EDAR,RANBP2c.1252A>T (p.Ile418Phe)
c.1348A>T (p.Ile450Phe)
c.1399A>T (p.Ile467Phe)
c.1303A>T (p.Ile435Phe)
c.679A>T (p.Ile227Phe)
c.1492A>T (p.Ile498Phe)
c.1396A>T (p.Ile466Phe)
c.8370+123956T>A (n.8370+123956T>A)
2g.108897002T>CCA348047784EDAR,RANBP2c.1252A>G (p.Ile418Val)
c.1348A>G (p.Ile450Val)
c.1399A>G (p.Ile467Val)
c.1303A>G (p.Ile435Val)
c.679A>G (p.Ile227Val)
c.1492A>G (p.Ile498Val)
c.1396A>G (p.Ile466Val)
c.8370+123956T>C (n.8370+123956T>C)
2g.108897002T>GCA348047781EDAR,RANBP2c.1252A>C (p.Ile418Leu)
c.1348A>C (p.Ile450Leu)
c.1399A>C (p.Ile467Leu)
c.1303A>C (p.Ile435Leu)
c.679A>C (p.Ile227Leu)
c.1492A>C (p.Ile498Leu)
c.1396A>C (p.Ile466Leu)
c.8370+123956T>G (n.8370+123956T>G)
2g.108897002_108897005delinsTCTGCA1278354233EDAR,RANBP2c.1249_1252delinsCAGA (p.Gln417=)
c.1345_1348delinsCAGA (p.Gln449=)
c.1396_1399delinsCAGA (p.Gln466=)
c.1300_1303delinsCAGA (p.Gln434=)
c.676_679delinsCAGA (p.Gln226=)
c.1489_1492delinsCAGA (p.Gln497=)
c.1393_1396delinsCAGA (p.Gln465=)
c.8370+123956_8370+123959delinsTCTG (n.8370+123956_8370+123959delinsTCTG)
2g.108897002_108897003insATTTTCCCTGCGACTATGGGCTGCTTGACTCGATTGCAACTTAGCTACTTCGATTTGCTTTTCCAAATCACTGATCAAACGAGTGACCTCAAGCAAGCTCGCCTGGTCCTCAGCTAAGCTCTCATCCAACA2522173515EDAR,RANBP2c.1251_1252insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln417_Ile418insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1347_1348insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln449_Ile450insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1398_1399insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln466_Ile467insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1302_1303insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln434_Ile435insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.678_679insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln226_Ile227insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1491_1492insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln497_Ile498insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1395_1396insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln465_Ile466insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.8370+123956_8370+123957insATTTTCCCTGCGACTATGGGCTGCTTGACTCGATTGCAACTTAGCTACTTCGATTTGCTTTTCCAAATCACTGATCAAACGAGTGACCTCAAGCAAGCTCGCCTGGTCCTCAGCTAAGCTCTCATCCAA (n.8370+123956_8370+123957insATTTTCCCTGCGACTATGGGCTGCTTGACTCGATTGCAACTTAGCTACTTCGATTTGCTTTTCCAAATCACTGATCAAACGAGTGACCTCAAGCAAGCTCGCCTGGTCCTCAGCTAAGCTCTCATCCAA)
2g.108897003C>ACA348047786EDAR,RANBP2c.1251G>T (p.Gln417His)
c.1347G>T (p.Gln449His)
c.1398G>T (p.Gln466His)
c.1302G>T (p.Gln434His)
c.678G>T (p.Gln226His)
c.1491G>T (p.Gln497His)
c.1395G>T (p.Gln465His)
c.8370+123957C>A (n.8370+123957C>A)
 dbSNP
2g.108897003C=CA1278354234EDAR,RANBP2c.1251G= (p.Gln417=)
c.1347G= (p.Gln449=)
c.1398G= (p.Gln466=)
c.1302G= (p.Gln434=)
c.678G= (p.Gln226=)
c.1491G= (p.Gln497=)
c.1395G= (p.Gln465=)
c.8370+123957C= (n.8370+123957C=)
2g.108897003C>GCA348047788EDAR,RANBP2c.1251G>C (p.Gln417His)
c.1347G>C (p.Gln449His)
c.1398G>C (p.Gln466His)
c.1302G>C (p.Gln434His)
c.678G>C (p.Gln226His)
c.1491G>C (p.Gln497His)
c.1395G>C (p.Gln465His)
c.8370+123957C>G (n.8370+123957C>G)
 COSMIC COSMIC
2g.108897003C>TCA428203942EDAR,RANBP2c.1251G>A (p.Gln417=)
c.1347G>A (p.Gln449=)
c.1398G>A (p.Gln466=)
c.1302G>A (p.Gln434=)
c.678G>A (p.Gln226=)
c.1491G>A (p.Gln497=)
c.1395G>A (p.Gln465=)
c.8370+123957C>T (n.8370+123957C>T)
2g.108897004_108897006delCA1278354235EDAR,RANBP2c.1249_1251del (p.Gln417del)
c.1345_1347del (p.Gln449del)
c.1396_1398del (p.Gln466del)
c.1300_1302del (p.Gln434del)
c.676_678del (p.Gln226del)
c.1489_1491del (p.Gln497del)
c.1393_1395del (p.Gln465del)
c.8370+123958_8370+123960del (n.8370+123958_8370+123960del)
 dbSNP
2g.108897004T>ACA348047790EDAR,RANBP2c.1250A>T (p.Gln417Leu)
c.1346A>T (p.Gln449Leu)
c.1397A>T (p.Gln466Leu)
c.1301A>T (p.Gln434Leu)
c.677A>T (p.Gln226Leu)
c.1490A>T (p.Gln497Leu)
c.1394A>T (p.Gln465Leu)
c.8370+123958T>A (n.8370+123958T>A)
2g.108897004T>CCA348047792EDAR,RANBP2c.1250A>G (p.Gln417Arg)
c.1346A>G (p.Gln449Arg)
c.1397A>G (p.Gln466Arg)
c.1301A>G (p.Gln434Arg)
c.677A>G (p.Gln226Arg)
c.1490A>G (p.Gln497Arg)
c.1394A>G (p.Gln465Arg)
c.8370+123958T>C (n.8370+123958T>C)
2g.108897004T>GCA348047794EDAR,RANBP2c.1250A>C (p.Gln417Pro)
c.1346A>C (p.Gln449Pro)
c.1397A>C (p.Gln466Pro)
c.1301A>C (p.Gln434Pro)
c.677A>C (p.Gln226Pro)
c.1490A>C (p.Gln497Pro)
c.1394A>C (p.Gln465Pro)
c.8370+123958T>G (n.8370+123958T>G)
2g.108897005G>ACA1824796EDAR,RANBP2c.1249C>T (p.Gln417Ter)
c.1345C>T (p.Gln449Ter)
c.1396C>T (p.Gln466Ter)
c.1300C>T (p.Gln434Ter)
c.676C>T (p.Gln226Ter)
c.1489C>T (p.Gln497Ter)
c.1393C>T (p.Gln465Ter)
c.8370+123959G>A (n.8370+123959G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897005G>CCA348047798EDAR,RANBP2c.1249C>G (p.Gln417Glu)
c.1345C>G (p.Gln449Glu)
c.1396C>G (p.Gln466Glu)
c.1300C>G (p.Gln434Glu)
c.676C>G (p.Gln226Glu)
c.1489C>G (p.Gln497Glu)
c.1393C>G (p.Gln465Glu)
c.8370+123959G>C (n.8370+123959G>C)
2g.108897005G=CA1278354236EDAR,RANBP2c.1249C= (p.Gln417=)
c.1345C= (p.Gln449=)
c.1396C= (p.Gln466=)
c.1300C= (p.Gln434=)
c.676C= (p.Gln226=)
c.1489C= (p.Gln497=)
c.1393C= (p.Gln465=)
c.8370+123959G= (n.8370+123959G=)
2g.108897005G>TCA348047796EDAR,RANBP2c.1249C>A (p.Gln417Lys)
c.1345C>A (p.Gln449Lys)
c.1396C>A (p.Gln466Lys)
c.1300C>A (p.Gln434Lys)
c.676C>A (p.Gln226Lys)
c.1489C>A (p.Gln497Lys)
c.1393C>A (p.Gln465Lys)
c.8370+123959G>T (n.8370+123959G>T)
2g.108897006C>ACA428203946EDAR,RANBP2c.1248G>T (p.Val416=)
c.1344G>T (p.Val448=)
c.1395G>T (p.Val465=)
c.1299G>T (p.Val433=)
c.675G>T (p.Val225=)
c.1488G>T (p.Val496=)
c.1392G>T (p.Val464=)
c.8370+123960C>A (n.8370+123960C>A)
2g.108897006C>GCA428203945EDAR,RANBP2c.1248G>C (p.Val416=)
c.1344G>C (p.Val448=)
c.1395G>C (p.Val465=)
c.1299G>C (p.Val433=)
c.675G>C (p.Val225=)
c.1488G>C (p.Val496=)
c.1392G>C (p.Val464=)
c.8370+123960C>G (n.8370+123960C>G)
2g.108897006C>TCA428203944EDAR,RANBP2c.1248G>A (p.Val416=)
c.1344G>A (p.Val448=)
c.1395G>A (p.Val465=)
c.1299G>A (p.Val433=)
c.675G>A (p.Val225=)
c.1488G>A (p.Val496=)
c.1392G>A (p.Val464=)
c.8370+123960C>T (n.8370+123960C>T)
2g.108897007A>CCA348047801EDAR,RANBP2c.1247T>G (p.Val416Gly)
c.1343T>G (p.Val448Gly)
c.1394T>G (p.Val465Gly)
c.1298T>G (p.Val433Gly)
c.674T>G (p.Val225Gly)
c.1487T>G (p.Val496Gly)
c.1391T>G (p.Val464Gly)
c.8370+123961A>C (n.8370+123961A>C)
2g.108897007A>GCA348047804EDAR,RANBP2c.1247T>C (p.Val416Ala)
c.1343T>C (p.Val448Ala)
c.1394T>C (p.Val465Ala)
c.1298T>C (p.Val433Ala)
c.674T>C (p.Val225Ala)
c.1487T>C (p.Val496Ala)
c.1391T>C (p.Val464Ala)
c.8370+123961A>G (n.8370+123961A>G)
2g.108897007A>TCA348047805EDAR,RANBP2c.1247T>A (p.Val416Glu)
c.1343T>A (p.Val448Glu)
c.1394T>A (p.Val465Glu)
c.1298T>A (p.Val433Glu)
c.674T>A (p.Val225Glu)
c.1487T>A (p.Val496Glu)
c.1391T>A (p.Val464Glu)
c.8370+123961A>T (n.8370+123961A>T)
2g.108897008C>ACA348047808EDAR,RANBP2c.1246G>T (p.Val416Leu)
c.1342G>T (p.Val448Leu)
c.1393G>T (p.Val465Leu)
c.1297G>T (p.Val433Leu)
c.673G>T (p.Val225Leu)
c.1486G>T (p.Val496Leu)
c.1390G>T (p.Val464Leu)
c.8370+123962C>A (n.8370+123962C>A)
2g.108897008C=CA1278354237EDAR,RANBP2c.1246G= (p.Val416=)
c.1342G= (p.Val448=)
c.1393G= (p.Val465=)
c.1297G= (p.Val433=)
c.673G= (p.Val225=)
c.1486G= (p.Val496=)
c.1390G= (p.Val464=)
c.8370+123962C= (n.8370+123962C=)
2g.108897008C>GCA348047809EDAR,RANBP2c.1246G>C (p.Val416Leu)
c.1342G>C (p.Val448Leu)
c.1393G>C (p.Val465Leu)
c.1297G>C (p.Val433Leu)
c.673G>C (p.Val225Leu)
c.1486G>C (p.Val496Leu)
c.1390G>C (p.Val464Leu)
c.8370+123962C>G (n.8370+123962C>G)
2g.108897008C>TCA1824797EDAR,RANBP2c.1246G>A (p.Val416Met)
c.1342G>A (p.Val448Met)
c.1393G>A (p.Val465Met)
c.1297G>A (p.Val433Met)
c.673G>A (p.Val225Met)
c.1486G>A (p.Val496Met)
c.1390G>A (p.Val464Met)
c.8370+123962C>T (n.8370+123962C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108897009C>ACA428203950EDAR,RANBP2c.1245G>T (p.Leu415=)
c.1341G>T (p.Leu447=)
c.1392G>T (p.Leu464=)
c.1296G>T (p.Leu432=)
c.672G>T (p.Leu224=)
c.1485G>T (p.Leu495=)
c.1389G>T (p.Leu463=)
c.8370+123963C>A (n.8370+123963C>A)
2g.108897009C>GCA428203951EDAR,RANBP2c.1245G>C (p.Leu415=)
c.1341G>C (p.Leu447=)
c.1392G>C (p.Leu464=)
c.1296G>C (p.Leu432=)
c.672G>C (p.Leu224=)
c.1485G>C (p.Leu495=)
c.1389G>C (p.Leu463=)
c.8370+123963C>G (n.8370+123963C>G)
2g.108897009C>TCA428203952EDAR,RANBP2c.1245G>A (p.Leu415=)
c.1341G>A (p.Leu447=)
c.1392G>A (p.Leu464=)
c.1296G>A (p.Leu432=)
c.672G>A (p.Leu224=)
c.1485G>A (p.Leu495=)
c.1389G>A (p.Leu463=)
c.8370+123963C>T (n.8370+123963C>T)
2g.108897010A>CCA348047813EDAR,RANBP2c.1244T>G (p.Leu415Arg)
c.1340T>G (p.Leu447Arg)
c.1391T>G (p.Leu464Arg)
c.1295T>G (p.Leu432Arg)
c.671T>G (p.Leu224Arg)
c.1484T>G (p.Leu495Arg)
c.1388T>G (p.Leu463Arg)
c.8370+123964A>C (n.8370+123964A>C)
2g.108897010A>GCA348047817EDAR,RANBP2c.1244T>C (p.Leu415Pro)
c.1340T>C (p.Leu447Pro)
c.1391T>C (p.Leu464Pro)
c.1295T>C (p.Leu432Pro)
c.671T>C (p.Leu224Pro)
c.1484T>C (p.Leu495Pro)
c.1388T>C (p.Leu463Pro)
c.8370+123964A>G (n.8370+123964A>G)
2g.108897010A>TCA348047815EDAR,RANBP2c.1244T>A (p.Leu415Gln)
c.1340T>A (p.Leu447Gln)
c.1391T>A (p.Leu464Gln)
c.1295T>A (p.Leu432Gln)
c.671T>A (p.Leu224Gln)
c.1484T>A (p.Leu495Gln)
c.1388T>A (p.Leu463Gln)
c.8370+123964A>T (n.8370+123964A>T)
2g.108897011G>ACA428203956EDAR,RANBP2c.1243C>T (p.Leu415=)
c.1339C>T (p.Leu447=)
c.1390C>T (p.Leu464=)
c.1294C>T (p.Leu432=)
c.670C>T (p.Leu224=)
c.1483C>T (p.Leu495=)
c.1387C>T (p.Leu463=)
c.8370+123965G>A (n.8370+123965G>A)
2g.108897011G>CCA348047819EDAR,RANBP2c.1243C>G (p.Leu415Val)
c.1339C>G (p.Leu447Val)
c.1390C>G (p.Leu464Val)
c.1294C>G (p.Leu432Val)
c.670C>G (p.Leu224Val)
c.1483C>G (p.Leu495Val)
c.1387C>G (p.Leu463Val)
c.8370+123965G>C (n.8370+123965G>C)
2g.108897011G>TCA348047821EDAR,RANBP2c.1243C>A (p.Leu415Met)
c.1339C>A (p.Leu447Met)
c.1390C>A (p.Leu464Met)
c.1294C>A (p.Leu432Met)
c.670C>A (p.Leu224Met)
c.1483C>A (p.Leu495Met)
c.1387C>A (p.Leu463Met)
c.8370+123965G>T (n.8370+123965G>T)
2g.108897012T>ACA348047822EDAR,RANBP2c.1242A>T (p.Lys414Asn)
c.1338A>T (p.Lys446Asn)
c.1389A>T (p.Lys463Asn)
c.1293A>T (p.Lys431Asn)
c.669A>T (p.Lys223Asn)
c.1482A>T (p.Lys494Asn)
c.1386A>T (p.Lys462Asn)
c.8370+123966T>A (n.8370+123966T>A)
2g.108897012T>CCA428203957EDAR,RANBP2c.1242A>G (p.Lys414=)
c.1338A>G (p.Lys446=)
c.1389A>G (p.Lys463=)
c.1293A>G (p.Lys431=)
c.669A>G (p.Lys223=)
c.1482A>G (p.Lys494=)
c.1386A>G (p.Lys462=)
c.8370+123966T>C (n.8370+123966T>C)
2g.108897012T>GCA348047823EDAR,RANBP2c.1242A>C (p.Lys414Asn)
c.1338A>C (p.Lys446Asn)
c.1389A>C (p.Lys463Asn)
c.1293A>C (p.Lys431Asn)
c.669A>C (p.Lys223Asn)
c.1482A>C (p.Lys494Asn)
c.1386A>C (p.Lys462Asn)
c.8370+123966T>G (n.8370+123966T>G)
2g.108897013T>ACA348047826EDAR,RANBP2c.1241A>T (p.Lys414Ile)
c.1337A>T (p.Lys446Ile)
c.1388A>T (p.Lys463Ile)
c.1292A>T (p.Lys431Ile)
c.668A>T (p.Lys223Ile)
c.1481A>T (p.Lys494Ile)
c.1385A>T (p.Lys462Ile)
c.8370+123967T>A (n.8370+123967T>A)
2g.108897013T>CCA348047828EDAR,RANBP2c.1241A>G (p.Lys414Arg)
c.1337A>G (p.Lys446Arg)
c.1388A>G (p.Lys463Arg)
c.1292A>G (p.Lys431Arg)
c.668A>G (p.Lys223Arg)
c.1481A>G (p.Lys494Arg)
c.1385A>G (p.Lys462Arg)
c.8370+123967T>C (n.8370+123967T>C)
2g.108897013T>GCA348047830EDAR,RANBP2c.1241A>C (p.Lys414Thr)
c.1337A>C (p.Lys446Thr)
c.1388A>C (p.Lys463Thr)
c.1292A>C (p.Lys431Thr)
c.668A>C (p.Lys223Thr)
c.1481A>C (p.Lys494Thr)
c.1385A>C (p.Lys462Thr)
c.8370+123967T>G (n.8370+123967T>G)
2g.108897014T>ACA348047832EDAR,RANBP2c.1240A>T (p.Lys414Ter)
c.1336A>T (p.Lys446Ter)
c.1387A>T (p.Lys463Ter)
c.1291A>T (p.Lys431Ter)
c.667A>T (p.Lys223Ter)
c.1480A>T (p.Lys494Ter)
c.1384A>T (p.Lys462Ter)
c.8370+123968T>A (n.8370+123968T>A)
2g.108897014T>CCA348047834EDAR,RANBP2c.1240A>G (p.Lys414Glu)
c.1336A>G (p.Lys446Glu)
c.1387A>G (p.Lys463Glu)
c.1291A>G (p.Lys431Glu)
c.667A>G (p.Lys223Glu)
c.1480A>G (p.Lys494Glu)
c.1384A>G (p.Lys462Glu)
c.8370+123968T>C (n.8370+123968T>C)
2g.108897014T>GCA348047836EDAR,RANBP2c.1240A>C (p.Lys414Gln)
c.1336A>C (p.Lys446Gln)
c.1387A>C (p.Lys463Gln)
c.1291A>C (p.Lys431Gln)
c.667A>C (p.Lys223Gln)
c.1480A>C (p.Lys494Gln)
c.1384A>C (p.Lys462Gln)
c.8370+123968T>G (n.8370+123968T>G)
2g.108897015T>ACA428203958EDAR,RANBP2c.1239A>T (p.Thr413=)
c.1335A>T (p.Thr445=)
c.1386A>T (p.Thr462=)
c.1290A>T (p.Thr430=)
c.666A>T (p.Thr222=)
c.1479A>T (p.Thr493=)
c.1383A>T (p.Thr461=)
c.8370+123969T>A (n.8370+123969T>A)
2g.108897015T>CCA428203959EDAR,RANBP2c.1239A>G (p.Thr413=)
c.1335A>G (p.Thr445=)
c.1386A>G (p.Thr462=)
c.1290A>G (p.Thr430=)
c.666A>G (p.Thr222=)
c.1479A>G (p.Thr493=)
c.1383A>G (p.Thr461=)
c.8370+123969T>C (n.8370+123969T>C)
2g.108897015T>GCA428203960EDAR,RANBP2c.1239A>C (p.Thr413=)
c.1335A>C (p.Thr445=)
c.1386A>C (p.Thr462=)
c.1290A>C (p.Thr430=)
c.666A>C (p.Thr222=)
c.1479A>C (p.Thr493=)
c.1383A>C (p.Thr461=)
c.8370+123969T>G (n.8370+123969T>G)
2g.108897016G>ACA348047842EDAR,RANBP2c.1238C>T (p.Thr413Ile)
c.1334C>T (p.Thr445Ile)
c.1385C>T (p.Thr462Ile)
c.1289C>T (p.Thr430Ile)
c.665C>T (p.Thr222Ile)
c.1478C>T (p.Thr493Ile)
c.1382C>T (p.Thr461Ile)
c.8370+123970G>A (n.8370+123970G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108897016G>CCA348047841EDAR,RANBP2c.1238C>G (p.Thr413Arg)
c.1334C>G (p.Thr445Arg)
c.1385C>G (p.Thr462Arg)
c.1289C>G (p.Thr430Arg)
c.665C>G (p.Thr222Arg)
c.1478C>G (p.Thr493Arg)
c.1382C>G (p.Thr461Arg)
c.8370+123970G>C (n.8370+123970G>C)
2g.108897016G=CA1278354238EDAR,RANBP2c.1238C= (p.Thr413=)
c.1334C= (p.Thr445=)
c.1385C= (p.Thr462=)
c.1289C= (p.Thr430=)
c.665C= (p.Thr222=)
c.1478C= (p.Thr493=)
c.1382C= (p.Thr461=)
c.8370+123970G= (n.8370+123970G=)
2g.108897016G>TCA348047839EDAR,RANBP2c.1238C>A (p.Thr413Lys)
c.1334C>A (p.Thr445Lys)
c.1385C>A (p.Thr462Lys)
c.1289C>A (p.Thr430Lys)
c.665C>A (p.Thr222Lys)
c.1478C>A (p.Thr493Lys)
c.1382C>A (p.Thr461Lys)
c.8370+123970G>T (n.8370+123970G>T)
 gnomAD v4
2g.108897017T>ACA348047844EDAR,RANBP2c.1237A>T (p.Thr413Ser)
c.1333A>T (p.Thr445Ser)
c.1384A>T (p.Thr462Ser)
c.1288A>T (p.Thr430Ser)
c.664A>T (p.Thr222Ser)
c.1477A>T (p.Thr493Ser)
c.1381A>T (p.Thr461Ser)
c.8370+123971T>A (n.8370+123971T>A)
2g.108897017T>CCA348047848EDAR,RANBP2c.1237A>G (p.Thr413Ala)
c.1333A>G (p.Thr445Ala)
c.1384A>G (p.Thr462Ala)
c.1288A>G (p.Thr430Ala)
c.664A>G (p.Thr222Ala)
c.1477A>G (p.Thr493Ala)
c.1381A>G (p.Thr461Ala)
c.8370+123971T>C (n.8370+123971T>C)
2g.108897017T>GCA348047846EDAR,RANBP2c.1237A>C (p.Thr413Pro)
c.1333A>C (p.Thr445Pro)
c.1384A>C (p.Thr462Pro)
c.1288A>C (p.Thr430Pro)
c.664A>C (p.Thr222Pro)
c.1477A>C (p.Thr493Pro)
c.1381A>C (p.Thr461Pro)
c.8370+123971T>G (n.8370+123971T>G)
2g.108897018G>ACA428203962EDAR,RANBP2c.1236C>T (p.Leu412=)
c.1332C>T (p.Leu444=)
c.1383C>T (p.Leu461=)
c.1287C>T (p.Leu429=)
c.663C>T (p.Leu221=)
c.1476C>T (p.Leu492=)
c.1380C>T (p.Leu460=)
c.8370+123972G>A (n.8370+123972G>A)
 gnomAD v4 COSMIC COSMIC
2g.108897018G>CCA428203964EDAR,RANBP2c.1236C>G (p.Leu412=)
c.1332C>G (p.Leu444=)
c.1383C>G (p.Leu461=)
c.1287C>G (p.Leu429=)
c.663C>G (p.Leu221=)
c.1476C>G (p.Leu492=)
c.1380C>G (p.Leu460=)
c.8370+123972G>C (n.8370+123972G>C)
2g.108897018G>TCA428203963EDAR,RANBP2c.1236C>A (p.Leu412=)
c.1332C>A (p.Leu444=)
c.1383C>A (p.Leu461=)
c.1287C>A (p.Leu429=)
c.663C>A (p.Leu221=)
c.1476C>A (p.Leu492=)
c.1380C>A (p.Leu460=)
c.8370+123972G>T (n.8370+123972G>T)
 gnomAD v4
2g.108897019A>CCA348047851EDAR,RANBP2c.1235T>G (p.Leu412Arg)
c.1331T>G (p.Leu444Arg)
c.1382T>G (p.Leu461Arg)
c.1286T>G (p.Leu429Arg)
c.662T>G (p.Leu221Arg)
c.1475T>G (p.Leu492Arg)
c.1379T>G (p.Leu460Arg)
c.8370+123973A>C (n.8370+123973A>C)
2g.108897019A>GCA348047854EDAR,RANBP2c.1235T>C (p.Leu412Pro)
c.1331T>C (p.Leu444Pro)
c.1382T>C (p.Leu461Pro)
c.1286T>C (p.Leu429Pro)
c.662T>C (p.Leu221Pro)
c.1475T>C (p.Leu492Pro)
c.1379T>C (p.Leu460Pro)
c.8370+123973A>G (n.8370+123973A>G)
2g.108897019A>TCA348047852EDAR,RANBP2c.1235T>A (p.Leu412His)
c.1331T>A (p.Leu444His)
c.1382T>A (p.Leu461His)
c.1286T>A (p.Leu429His)
c.662T>A (p.Leu221His)
c.1475T>A (p.Leu492His)
c.1379T>A (p.Leu460His)
c.8370+123973A>T (n.8370+123973A>T)
2g.108897020G>ACA348047857EDAR,RANBP2c.1234C>T (p.Leu412Phe)
c.1330C>T (p.Leu444Phe)
c.1381C>T (p.Leu461Phe)
c.1285C>T (p.Leu429Phe)
c.661C>T (p.Leu221Phe)
c.1474C>T (p.Leu492Phe)
c.1378C>T (p.Leu460Phe)
c.8370+123974G>A (n.8370+123974G>A)
2g.108897020G>CCA348047859EDAR,RANBP2c.1234C>G (p.Leu412Val)
c.1330C>G (p.Leu444Val)
c.1381C>G (p.Leu461Val)
c.1285C>G (p.Leu429Val)
c.661C>G (p.Leu221Val)
c.1474C>G (p.Leu492Val)
c.1378C>G (p.Leu460Val)
c.8370+123974G>C (n.8370+123974G>C)
 gnomAD v4
2g.108897020G>TCA348047861EDAR,RANBP2c.1234C>A (p.Leu412Ile)
c.1330C>A (p.Leu444Ile)
c.1381C>A (p.Leu461Ile)
c.1285C>A (p.Leu429Ile)
c.661C>A (p.Leu221Ile)
c.1474C>A (p.Leu492Ile)
c.1378C>A (p.Leu460Ile)
c.8370+123974G>T (n.8370+123974G>T)
2g.108897021T>ACA428203966EDAR,RANBP2c.1233A>T (p.Leu411=)
c.1329A>T (p.Leu443=)
c.1380A>T (p.Leu460=)
c.1284A>T (p.Leu428=)
c.660A>T (p.Leu220=)
c.1473A>T (p.Leu491=)
c.1377A>T (p.Leu459=)
c.8370+123975T>A (n.8370+123975T>A)
2g.108897021T>CCA428203967EDAR,RANBP2c.1233A>G (p.Leu411=)
c.1329A>G (p.Leu443=)
c.1380A>G (p.Leu460=)
c.1284A>G (p.Leu428=)
c.660A>G (p.Leu220=)
c.1473A>G (p.Leu491=)
c.1377A>G (p.Leu459=)
c.8370+123975T>C (n.8370+123975T>C)
2g.108897021T>GCA428203969EDAR,RANBP2c.1233A>C (p.Leu411=)
c.1329A>C (p.Leu443=)
c.1380A>C (p.Leu460=)
c.1284A>C (p.Leu428=)
c.660A>C (p.Leu220=)
c.1473A>C (p.Leu491=)
c.1377A>C (p.Leu459=)
c.8370+123975T>G (n.8370+123975T>G)
2g.108897022A>CCA348047864EDAR,RANBP2c.1232T>G (p.Leu411Arg)
c.1328T>G (p.Leu443Arg)
c.1379T>G (p.Leu460Arg)
c.1283T>G (p.Leu428Arg)
c.659T>G (p.Leu220Arg)
c.1472T>G (p.Leu491Arg)
c.1376T>G (p.Leu459Arg)
c.8370+123976A>C (n.8370+123976A>C)
2g.108897022A>GCA348047866EDAR,RANBP2c.1232T>C (p.Leu411Pro)
c.1328T>C (p.Leu443Pro)
c.1379T>C (p.Leu460Pro)
c.1283T>C (p.Leu428Pro)
c.659T>C (p.Leu220Pro)
c.1472T>C (p.Leu491Pro)
c.1376T>C (p.Leu459Pro)
c.8370+123976A>G (n.8370+123976A>G)
2g.108897022A>TCA348047867EDAR,RANBP2c.1232T>A (p.Leu411Gln)
c.1328T>A (p.Leu443Gln)
c.1379T>A (p.Leu460Gln)
c.1283T>A (p.Leu428Gln)
c.659T>A (p.Leu220Gln)
c.1472T>A (p.Leu491Gln)
c.1376T>A (p.Leu459Gln)
c.8370+123976A>T (n.8370+123976A>T)
2g.108897023G>ACA428203974EDAR,RANBP2c.1231C>T (p.Leu411=)
c.1327C>T (p.Leu443=)
c.1378C>T (p.Leu460=)
c.1282C>T (p.Leu428=)
c.658C>T (p.Leu220=)
c.1471C>T (p.Leu491=)
c.1375C>T (p.Leu459=)
c.8370+123977G>A (n.8370+123977G>A)
2g.108897023G>CCA348047870EDAR,RANBP2c.1231C>G (p.Leu411Val)
c.1327C>G (p.Leu443Val)
c.1378C>G (p.Leu460Val)
c.1282C>G (p.Leu428Val)
c.658C>G (p.Leu220Val)
c.1471C>G (p.Leu491Val)
c.1375C>G (p.Leu459Val)
c.8370+123977G>C (n.8370+123977G>C)
2g.108897023G>TCA348047872EDAR,RANBP2c.1231C>A (p.Leu411Ile)
c.1327C>A (p.Leu443Ile)
c.1378C>A (p.Leu460Ile)
c.1282C>A (p.Leu428Ile)
c.658C>A (p.Leu220Ile)
c.1471C>A (p.Leu491Ile)
c.1375C>A (p.Leu459Ile)
c.8370+123977G>T (n.8370+123977G>T)
2g.108897024C>ACA348047874EDAR,RANBP2c.1230G>T (p.Glu410Asp)
c.1326G>T (p.Glu442Asp)
c.1377G>T (p.Glu459Asp)
c.1281G>T (p.Glu427Asp)
c.657G>T (p.Glu219Asp)
c.1470G>T (p.Glu490Asp)
c.1374G>T (p.Glu458Asp)
c.8370+123978C>A (n.8370+123978C>A)
2g.108897024C=CA1278354239EDAR,RANBP2c.1230G= (p.Glu410=)
c.1326G= (p.Glu442=)
c.1377G= (p.Glu459=)
c.1281G= (p.Glu427=)
c.657G= (p.Glu219=)
c.1470G= (p.Glu490=)
c.1374G= (p.Glu458=)
c.8370+123978C= (n.8370+123978C=)
2g.108897024C>GCA348047876EDAR,RANBP2c.1230G>C (p.Glu410Asp)
c.1326G>C (p.Glu442Asp)
c.1377G>C (p.Glu459Asp)
c.1281G>C (p.Glu427Asp)
c.657G>C (p.Glu219Asp)
c.1470G>C (p.Glu490Asp)
c.1374G>C (p.Glu458Asp)
c.8370+123978C>G (n.8370+123978C>G)
 dbSNP gnomAD v4
2g.108897024C>TCA1824798EDAR,RANBP2c.1230G>A (p.Glu410=)
c.1326G>A (p.Glu442=)
c.1377G>A (p.Glu459=)
c.1281G>A (p.Glu427=)
c.657G>A (p.Glu219=)
c.1470G>A (p.Glu490=)
c.1374G>A (p.Glu458=)
c.8370+123978C>T (n.8370+123978C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897025T>ACA348047882EDAR,RANBP2c.1229A>T (p.Glu410Val)
c.1325A>T (p.Glu442Val)
c.1376A>T (p.Glu459Val)
c.1280A>T (p.Glu427Val)
c.656A>T (p.Glu219Val)
c.1469A>T (p.Glu490Val)
c.1373A>T (p.Glu458Val)
c.8370+123979T>A (n.8370+123979T>A)
2g.108897025T>CCA16617224EDAR,RANBP2c.1229A>G (p.Glu410Gly)
c.1325A>G (p.Glu442Gly)
c.1376A>G (p.Glu459Gly)
c.1280A>G (p.Glu427Gly)
c.656A>G (p.Glu219Gly)
c.1469A>G (p.Glu490Gly)
c.1373A>G (p.Glu458Gly)
c.8370+123979T>C (n.8370+123979T>C)
 ClinVar dbSNP
2g.108897025T>GCA348047880EDAR,RANBP2c.1229A>C (p.Glu410Ala)
c.1325A>C (p.Glu442Ala)
c.1376A>C (p.Glu459Ala)
c.1280A>C (p.Glu427Ala)
c.656A>C (p.Glu219Ala)
c.1469A>C (p.Glu490Ala)
c.1373A>C (p.Glu458Ala)
c.8370+123979T>G (n.8370+123979T>G)
2g.108897025T=CA1278354240EDAR,RANBP2c.1229A= (p.Glu410=)
c.1325A= (p.Glu442=)
c.1376A= (p.Glu459=)
c.1280A= (p.Glu427=)
c.656A= (p.Glu219=)
c.1469A= (p.Glu490=)
c.1373A= (p.Glu458=)
c.8370+123979T= (n.8370+123979T=)
2g.108897026C>ACA348047884EDAR,RANBP2c.1228G>T (p.Glu410Ter)
c.1324G>T (p.Glu442Ter)
c.1375G>T (p.Glu459Ter)
c.1279G>T (p.Glu427Ter)
c.655G>T (p.Glu219Ter)
c.1468G>T (p.Glu490Ter)
c.1372G>T (p.Glu458Ter)
c.8370+123980C>A (n.8370+123980C>A)
2g.108897026C>GCA348047886EDAR,RANBP2c.1228G>C (p.Glu410Gln)
c.1324G>C (p.Glu442Gln)
c.1375G>C (p.Glu459Gln)
c.1279G>C (p.Glu427Gln)
c.655G>C (p.Glu219Gln)
c.1468G>C (p.Glu490Gln)
c.1372G>C (p.Glu458Gln)
c.8370+123980C>G (n.8370+123980C>G)
2g.108897026C>TCA348047888EDAR,RANBP2c.1228G>A (p.Glu410Lys)
c.1324G>A (p.Glu442Lys)
c.1375G>A (p.Glu459Lys)
c.1279G>A (p.Glu427Lys)
c.655G>A (p.Glu219Lys)
c.1468G>A (p.Glu490Lys)
c.1372G>A (p.Glu458Lys)
c.8370+123980C>T (n.8370+123980C>T)
2g.108897027A=CA1278354241EDAR,RANBP2c.1227T= (p.Pro409=)
c.1323T= (p.Pro441=)
c.1374T= (p.Pro458=)
c.1278T= (p.Pro426=)
c.654T= (p.Pro218=)
c.1467T= (p.Pro489=)
c.1371T= (p.Pro457=)
c.8370+123981A= (n.8370+123981A=)
2g.108897027A>CCA428203988EDAR,RANBP2c.1227T>G (p.Pro409=)
c.1323T>G (p.Pro441=)
c.1374T>G (p.Pro458=)
c.1278T>G (p.Pro426=)
c.654T>G (p.Pro218=)
c.1467T>G (p.Pro489=)
c.1371T>G (p.Pro457=)
c.8370+123981A>C (n.8370+123981A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897027A>GCA428203983EDAR,RANBP2c.1227T>C (p.Pro409=)
c.1323T>C (p.Pro441=)
c.1374T>C (p.Pro458=)
c.1278T>C (p.Pro426=)
c.654T>C (p.Pro218=)
c.1467T>C (p.Pro489=)
c.1371T>C (p.Pro457=)
c.8370+123981A>G (n.8370+123981A>G)
2g.108897027A>TCA428203987EDAR,RANBP2c.1227T>A (p.Pro409=)
c.1323T>A (p.Pro441=)
c.1374T>A (p.Pro458=)
c.1278T>A (p.Pro426=)
c.654T>A (p.Pro218=)
c.1467T>A (p.Pro489=)
c.1371T>A (p.Pro457=)
c.8370+123981A>T (n.8370+123981A>T)
2g.108897028G>ACA348047890EDAR,RANBP2c.1226C>T (p.Pro409Leu)
c.1322C>T (p.Pro441Leu)
c.1373C>T (p.Pro458Leu)
c.1277C>T (p.Pro426Leu)
c.653C>T (p.Pro218Leu)
c.1466C>T (p.Pro489Leu)
c.1370C>T (p.Pro457Leu)
c.8370+123982G>A (n.8370+123982G>A)
 COSMIC
2g.108897028G>CCA348047892EDAR,RANBP2c.1226C>G (p.Pro409Arg)
c.1322C>G (p.Pro441Arg)
c.1373C>G (p.Pro458Arg)
c.1277C>G (p.Pro426Arg)
c.653C>G (p.Pro218Arg)
c.1466C>G (p.Pro489Arg)
c.1370C>G (p.Pro457Arg)
c.8370+123982G>C (n.8370+123982G>C)
2g.108897028G>TCA348047894EDAR,RANBP2c.1226C>A (p.Pro409His)
c.1322C>A (p.Pro441His)
c.1373C>A (p.Pro458His)
c.1277C>A (p.Pro426His)
c.653C>A (p.Pro218His)
c.1466C>A (p.Pro489His)
c.1370C>A (p.Pro457His)
c.8370+123982G>T (n.8370+123982G>T)
2g.108897029G>ACA348047896EDAR,RANBP2c.1225C>T (p.Pro409Ser)
c.1321C>T (p.Pro441Ser)
c.1372C>T (p.Pro458Ser)
c.1276C>T (p.Pro426Ser)
c.652C>T (p.Pro218Ser)
c.1465C>T (p.Pro489Ser)
c.1369C>T (p.Pro457Ser)
c.8370+123983G>A (n.8370+123983G>A)
2g.108897029G>CCA348047897EDAR,RANBP2c.1225C>G (p.Pro409Ala)
c.1321C>G (p.Pro441Ala)
c.1372C>G (p.Pro458Ala)
c.1276C>G (p.Pro426Ala)
c.652C>G (p.Pro218Ala)
c.1465C>G (p.Pro489Ala)
c.1369C>G (p.Pro457Ala)
c.8370+123983G>C (n.8370+123983G>C)
2g.108897029G>TCA348047900EDAR,RANBP2c.1225C>A (p.Pro409Thr)
c.1321C>A (p.Pro441Thr)
c.1372C>A (p.Pro458Thr)
c.1276C>A (p.Pro426Thr)
c.652C>A (p.Pro218Thr)
c.1465C>A (p.Pro489Thr)
c.1369C>A (p.Pro457Thr)
c.8370+123983G>T (n.8370+123983G>T)
 gnomAD v4
2g.108897030G>ACA428203996EDAR,RANBP2c.1224C>T (p.Ile408=)
c.1320C>T (p.Ile440=)
c.1371C>T (p.Ile457=)
c.1275C>T (p.Ile425=)
c.651C>T (p.Ile217=)
c.1464C>T (p.Ile488=)
c.1368C>T (p.Ile456=)
c.8370+123984G>A (n.8370+123984G>A)
2g.108897030G>CCA348047902EDAR,RANBP2c.1224C>G (p.Ile408Met)
c.1320C>G (p.Ile440Met)
c.1371C>G (p.Ile457Met)
c.1275C>G (p.Ile425Met)
c.651C>G (p.Ile217Met)
c.1464C>G (p.Ile488Met)
c.1368C>G (p.Ile456Met)
c.8370+123984G>C (n.8370+123984G>C)
2g.108897030G>TCA428203998EDAR,RANBP2c.1224C>A (p.Ile408=)
c.1320C>A (p.Ile440=)
c.1371C>A (p.Ile457=)
c.1275C>A (p.Ile425=)
c.651C>A (p.Ile217=)
c.1464C>A (p.Ile488=)
c.1368C>A (p.Ile456=)
c.8370+123984G>T (n.8370+123984G>T)
2g.108897031A>CCA348047906EDAR,RANBP2c.1223T>G (p.Ile408Ser)
c.1319T>G (p.Ile440Ser)
c.1370T>G (p.Ile457Ser)
c.1274T>G (p.Ile425Ser)
c.650T>G (p.Ile217Ser)
c.1463T>G (p.Ile488Ser)
c.1367T>G (p.Ile456Ser)
c.8370+123985A>C (n.8370+123985A>C)
2g.108897031A>GCA348047908EDAR,RANBP2c.1223T>C (p.Ile408Thr)
c.1319T>C (p.Ile440Thr)
c.1370T>C (p.Ile457Thr)
c.1274T>C (p.Ile425Thr)
c.650T>C (p.Ile217Thr)
c.1463T>C (p.Ile488Thr)
c.1367T>C (p.Ile456Thr)
c.8370+123985A>G (n.8370+123985A>G)
2g.108897031A>TCA348047905EDAR,RANBP2c.1223T>A (p.Ile408Asn)
c.1319T>A (p.Ile440Asn)
c.1370T>A (p.Ile457Asn)
c.1274T>A (p.Ile425Asn)
c.650T>A (p.Ile217Asn)
c.1463T>A (p.Ile488Asn)
c.1367T>A (p.Ile456Asn)
c.8370+123985A>T (n.8370+123985A>T)
2g.108897032T>ACA348047911EDAR,RANBP2c.1222A>T (p.Ile408Phe)
c.1318A>T (p.Ile440Phe)
c.1369A>T (p.Ile457Phe)
c.1273A>T (p.Ile425Phe)
c.649A>T (p.Ile217Phe)
c.1462A>T (p.Ile488Phe)
c.1366A>T (p.Ile456Phe)
c.8370+123986T>A (n.8370+123986T>A)
2g.108897032T>CCA348047912EDAR,RANBP2c.1222A>G (p.Ile408Val)
c.1318A>G (p.Ile440Val)
c.1369A>G (p.Ile457Val)
c.1273A>G (p.Ile425Val)
c.649A>G (p.Ile217Val)
c.1462A>G (p.Ile488Val)
c.1366A>G (p.Ile456Val)
c.8370+123986T>C (n.8370+123986T>C)
2g.108897032T>GCA348047913EDAR,RANBP2c.1222A>C (p.Ile408Leu)
c.1318A>C (p.Ile440Leu)
c.1369A>C (p.Ile457Leu)
c.1273A>C (p.Ile425Leu)
c.649A>C (p.Ile217Leu)
c.1462A>C (p.Ile488Leu)
c.1366A>C (p.Ile456Leu)
c.8370+123986T>G (n.8370+123986T>G)
2g.108897033delCA2740095681EDAR,RANBP2c.1221del (p.Ser407ArgfsTer?)
c.1317del (p.Ser439ArgfsTer?)
c.1368del (p.Ser456ArgfsTer?)
c.1272del (p.Ser424ArgfsTer?)
c.648del (p.Ser216ArgfsTer?)
c.1461del (p.Ser487ArgfsTer?)
c.1365del (p.Ser455ArgfsTer?)
c.8370+123987del (n.8370+123987del)
 ClinVar
2g.108897033G>ACA428204006EDAR,RANBP2c.1221C>T (p.Ser407=)
c.1317C>T (p.Ser439=)
c.1368C>T (p.Ser456=)
c.1272C>T (p.Ser424=)
c.648C>T (p.Ser216=)
c.1461C>T (p.Ser487=)
c.1365C>T (p.Ser455=)
c.8370+123987G>A (n.8370+123987G>A)
2g.108897033G>CCA348047915EDAR,RANBP2c.1221C>G (p.Ser407Arg)
c.1317C>G (p.Ser439Arg)
c.1368C>G (p.Ser456Arg)
c.1272C>G (p.Ser424Arg)
c.648C>G (p.Ser216Arg)
c.1461C>G (p.Ser487Arg)
c.1365C>G (p.Ser455Arg)
c.8370+123987G>C (n.8370+123987G>C)
2g.108897033G>TCA348047917EDAR,RANBP2c.1221C>A (p.Ser407Arg)
c.1317C>A (p.Ser439Arg)
c.1368C>A (p.Ser456Arg)
c.1272C>A (p.Ser424Arg)
c.648C>A (p.Ser216Arg)
c.1461C>A (p.Ser487Arg)
c.1365C>A (p.Ser455Arg)
c.8370+123987G>T (n.8370+123987G>T)
2g.108897034C>ACA348047924EDAR,RANBP2c.1220G>T (p.Ser407Ile)
c.1316G>T (p.Ser439Ile)
c.1367G>T (p.Ser456Ile)
c.1271G>T (p.Ser424Ile)
c.647G>T (p.Ser216Ile)
c.1460G>T (p.Ser487Ile)
c.1364G>T (p.Ser455Ile)
c.8370+123988C>A (n.8370+123988C>A)
 COSMIC COSMIC
2g.108897034C>GCA348047920EDAR,RANBP2c.1220G>C (p.Ser407Thr)
c.1316G>C (p.Ser439Thr)
c.1367G>C (p.Ser456Thr)
c.1271G>C (p.Ser424Thr)
c.647G>C (p.Ser216Thr)
c.1460G>C (p.Ser487Thr)
c.1364G>C (p.Ser455Thr)
c.8370+123988C>G (n.8370+123988C>G)
2g.108897034C>TCA348047921EDAR,RANBP2c.1220G>A (p.Ser407Asn)
c.1316G>A (p.Ser439Asn)
c.1367G>A (p.Ser456Asn)
c.1271G>A (p.Ser424Asn)
c.647G>A (p.Ser216Asn)
c.1460G>A (p.Ser487Asn)
c.1364G>A (p.Ser455Asn)
c.8370+123988C>T (n.8370+123988C>T)
2g.108897035T>ACA348047927EDAR,RANBP2c.1219A>T (p.Ser407Cys)
c.1315A>T (p.Ser439Cys)
c.1366A>T (p.Ser456Cys)
c.1270A>T (p.Ser424Cys)
c.646A>T (p.Ser216Cys)
c.1459A>T (p.Ser487Cys)
c.1363A>T (p.Ser455Cys)
c.8370+123989T>A (n.8370+123989T>A)
2g.108897035T>CCA348047929EDAR,RANBP2c.1219A>G (p.Ser407Gly)
c.1315A>G (p.Ser439Gly)
c.1366A>G (p.Ser456Gly)
c.1270A>G (p.Ser424Gly)
c.646A>G (p.Ser216Gly)
c.1459A>G (p.Ser487Gly)
c.1363A>G (p.Ser455Gly)
c.8370+123989T>C (n.8370+123989T>C)
2g.108897035T>GCA348047931EDAR,RANBP2c.1219A>C (p.Ser407Arg)
c.1315A>C (p.Ser439Arg)
c.1366A>C (p.Ser456Arg)
c.1270A>C (p.Ser424Arg)
c.646A>C (p.Ser216Arg)
c.1459A>C (p.Ser487Arg)
c.1363A>C (p.Ser455Arg)
c.8370+123989T>G (n.8370+123989T>G)
2g.108897036G>ACA428204012EDAR,RANBP2c.1218C>T (p.Tyr406=)
c.1314C>T (p.Tyr438=)
c.1365C>T (p.Tyr455=)
c.1269C>T (p.Tyr423=)
c.645C>T (p.Tyr215=)
c.1458C>T (p.Tyr486=)
c.1362C>T (p.Tyr454=)
c.8370+123990G>A (n.8370+123990G>A)
 gnomAD v4
2g.108897036G>CCA348047933EDAR,RANBP2c.1218C>G (p.Tyr406Ter)
c.1314C>G (p.Tyr438Ter)
c.1365C>G (p.Tyr455Ter)
c.1269C>G (p.Tyr423Ter)
c.645C>G (p.Tyr215Ter)
c.1458C>G (p.Tyr486Ter)
c.1362C>G (p.Tyr454Ter)
c.8370+123990G>C (n.8370+123990G>C)
 ClinVar
2g.108897036G>TCA348047935EDAR,RANBP2c.1218C>A (p.Tyr406Ter)
c.1314C>A (p.Tyr438Ter)
c.1365C>A (p.Tyr455Ter)
c.1269C>A (p.Tyr423Ter)
c.645C>A (p.Tyr215Ter)
c.1458C>A (p.Tyr486Ter)
c.1362C>A (p.Tyr454Ter)
c.8370+123990G>T (n.8370+123990G>T)
2g.108897037T>ACA348047938EDAR,RANBP2c.1217A>T (p.Tyr406Phe)
c.1313A>T (p.Tyr438Phe)
c.1364A>T (p.Tyr455Phe)
c.1268A>T (p.Tyr423Phe)
c.644A>T (p.Tyr215Phe)
c.1457A>T (p.Tyr486Phe)
c.1361A>T (p.Tyr454Phe)
c.8370+123991T>A (n.8370+123991T>A)
2g.108897037T>CCA348047941EDAR,RANBP2c.1217A>G (p.Tyr406Cys)
c.1313A>G (p.Tyr438Cys)
c.1364A>G (p.Tyr455Cys)
c.1268A>G (p.Tyr423Cys)
c.644A>G (p.Tyr215Cys)
c.1457A>G (p.Tyr486Cys)
c.1361A>G (p.Tyr454Cys)
c.8370+123991T>C (n.8370+123991T>C)
2g.108897037T>GCA348047940EDAR,RANBP2c.1217A>C (p.Tyr406Ser)
c.1313A>C (p.Tyr438Ser)
c.1364A>C (p.Tyr455Ser)
c.1268A>C (p.Tyr423Ser)
c.644A>C (p.Tyr215Ser)
c.1457A>C (p.Tyr486Ser)
c.1361A>C (p.Tyr454Ser)
c.8370+123991T>G (n.8370+123991T>G)
2g.108897038A>CCA348047943EDAR,RANBP2c.1216T>G (p.Tyr406Asp)
c.1312T>G (p.Tyr438Asp)
c.1363T>G (p.Tyr455Asp)
c.1267T>G (p.Tyr423Asp)
c.643T>G (p.Tyr215Asp)
c.1456T>G (p.Tyr486Asp)
c.1360T>G (p.Tyr454Asp)
c.8370+123992A>C (n.8370+123992A>C)
2g.108897038A>GCA348047945EDAR,RANBP2c.1216T>C (p.Tyr406His)
c.1312T>C (p.Tyr438His)
c.1363T>C (p.Tyr455His)
c.1267T>C (p.Tyr423His)
c.643T>C (p.Tyr215His)
c.1456T>C (p.Tyr486His)
c.1360T>C (p.Tyr454His)
c.8370+123992A>G (n.8370+123992A>G)
2g.108897038A>TCA348047947EDAR,RANBP2c.1216T>A (p.Tyr406Asn)
c.1312T>A (p.Tyr438Asn)
c.1363T>A (p.Tyr455Asn)
c.1267T>A (p.Tyr423Asn)
c.643T>A (p.Tyr215Asn)
c.1456T>A (p.Tyr486Asn)
c.1360T>A (p.Tyr454Asn)
c.8370+123992A>T (n.8370+123992A>T)
2g.108897039G>ACA428204018EDAR,RANBP2c.1215C>T (p.Gly405=)
c.1311C>T (p.Gly437=)
c.1362C>T (p.Gly454=)
c.1266C>T (p.Gly422=)
c.642C>T (p.Gly214=)
c.1455C>T (p.Gly485=)
c.1359C>T (p.Gly453=)
c.8370+123993G>A (n.8370+123993G>A)
2g.108897039G>CCA428204019EDAR,RANBP2c.1215C>G (p.Gly405=)
c.1311C>G (p.Gly437=)
c.1362C>G (p.Gly454=)
c.1266C>G (p.Gly422=)
c.642C>G (p.Gly214=)
c.1455C>G (p.Gly485=)
c.1359C>G (p.Gly453=)
c.8370+123993G>C (n.8370+123993G>C)
 dbSNP
2g.108897039G=CA1278354242EDAR,RANBP2c.1215C= (p.Gly405=)
c.1311C= (p.Gly437=)
c.1362C= (p.Gly454=)
c.1266C= (p.Gly422=)
c.642C= (p.Gly214=)
c.1455C= (p.Gly485=)
c.1359C= (p.Gly453=)
c.8370+123993G= (n.8370+123993G=)
2g.108897039G>TCA428204020EDAR,RANBP2c.1215C>A (p.Gly405=)
c.1311C>A (p.Gly437=)
c.1362C>A (p.Gly454=)
c.1266C>A (p.Gly422=)
c.642C>A (p.Gly214=)
c.1455C>A (p.Gly485=)
c.1359C>A (p.Gly453=)
c.8370+123993G>T (n.8370+123993G>T)
2g.108897040C>ACA348047949EDAR,RANBP2c.1214G>T (p.Gly405Val)
c.1310G>T (p.Gly437Val)
c.1361G>T (p.Gly454Val)
c.1265G>T (p.Gly422Val)
c.641G>T (p.Gly214Val)
c.1454G>T (p.Gly485Val)
c.1358G>T (p.Gly453Val)
c.8370+123994C>A (n.8370+123994C>A)
2g.108897040C=CA1278354243EDAR,RANBP2c.1214G= (p.Gly405=)
c.1310G= (p.Gly437=)
c.1361G= (p.Gly454=)
c.1265G= (p.Gly422=)
c.641G= (p.Gly214=)
c.1454G= (p.Gly485=)
c.1358G= (p.Gly453=)
c.8370+123994C= (n.8370+123994C=)
2g.108897040C>GCA348047951EDAR,RANBP2c.1214G>C (p.Gly405Ala)
c.1310G>C (p.Gly437Ala)
c.1361G>C (p.Gly454Ala)
c.1265G>C (p.Gly422Ala)
c.641G>C (p.Gly214Ala)
c.1454G>C (p.Gly485Ala)
c.1358G>C (p.Gly453Ala)
c.8370+123994C>G (n.8370+123994C>G)
 ClinVar dbSNP
2g.108897040C>TCA348047953EDAR,RANBP2c.1214G>A (p.Gly405Asp)
c.1310G>A (p.Gly437Asp)
c.1361G>A (p.Gly454Asp)
c.1265G>A (p.Gly422Asp)
c.641G>A (p.Gly214Asp)
c.1454G>A (p.Gly485Asp)
c.1358G>A (p.Gly453Asp)
c.8370+123994C>T (n.8370+123994C>T)
 ClinVar dbSNP
2g.108897041C>ACA348047955EDAR,RANBP2c.1213G>T (p.Gly405Cys)
c.1309G>T (p.Gly437Cys)
c.1360G>T (p.Gly454Cys)
c.1264G>T (p.Gly422Cys)
c.640G>T (p.Gly214Cys)
c.1453G>T (p.Gly485Cys)
c.1357G>T (p.Gly453Cys)
c.8370+123995C>A (n.8370+123995C>A)
2g.108897041C=CA1278354244EDAR,RANBP2c.1213G= (p.Gly405=)
c.1309G= (p.Gly437=)
c.1360G= (p.Gly454=)
c.1264G= (p.Gly422=)
c.640G= (p.Gly214=)
c.1453G= (p.Gly485=)
c.1357G= (p.Gly453=)
c.8370+123995C= (n.8370+123995C=)
2g.108897041C>GCA348047957EDAR,RANBP2c.1213G>C (p.Gly405Arg)
c.1309G>C (p.Gly437Arg)
c.1360G>C (p.Gly454Arg)
c.1264G>C (p.Gly422Arg)
c.640G>C (p.Gly214Arg)
c.1453G>C (p.Gly485Arg)
c.1357G>C (p.Gly453Arg)
c.8370+123995C>G (n.8370+123995C>G)
 ClinVar dbSNP
2g.108897041C>TCA348047959EDAR,RANBP2c.1213G>A (p.Gly405Ser)
c.1309G>A (p.Gly437Ser)
c.1360G>A (p.Gly454Ser)
c.1264G>A (p.Gly422Ser)
c.640G>A (p.Gly214Ser)
c.1453G>A (p.Gly485Ser)
c.1357G>A (p.Gly453Ser)
c.8370+123995C>T (n.8370+123995C>T)
2g.108897042T>ACA428204024EDAR,RANBP2c.1212A>T (p.Ala404=)
c.1308A>T (p.Ala436=)
c.1359A>T (p.Ala453=)
c.1263A>T (p.Ala421=)
c.639A>T (p.Ala213=)
c.1452A>T (p.Ala484=)
c.1356A>T (p.Ala452=)
c.8370+123996T>A (n.8370+123996T>A)
2g.108897042T>CCA428204025EDAR,RANBP2c.1212A>G (p.Ala404=)
c.1308A>G (p.Ala436=)
c.1359A>G (p.Ala453=)
c.1263A>G (p.Ala421=)
c.639A>G (p.Ala213=)
c.1452A>G (p.Ala484=)
c.1356A>G (p.Ala452=)
c.8370+123996T>C (n.8370+123996T>C)
 dbSNP gnomAD v4
2g.108897042T>GCA428204027EDAR,RANBP2c.1212A>C (p.Ala404=)
c.1308A>C (p.Ala436=)
c.1359A>C (p.Ala453=)
c.1263A>C (p.Ala421=)
c.639A>C (p.Ala213=)
c.1452A>C (p.Ala484=)
c.1356A>C (p.Ala452=)
c.8370+123996T>G (n.8370+123996T>G)
2g.108897042T=CA1278354245EDAR,RANBP2c.1212A= (p.Ala404=)
c.1308A= (p.Ala436=)
c.1359A= (p.Ala453=)
c.1263A= (p.Ala421=)
c.639A= (p.Ala213=)
c.1452A= (p.Ala484=)
c.1356A= (p.Ala452=)
c.8370+123996T= (n.8370+123996T=)
2g.108897043G>ACA348047962EDAR,RANBP2c.1211C>T (p.Ala404Val)
c.1307C>T (p.Ala436Val)
c.1358C>T (p.Ala453Val)
c.1262C>T (p.Ala421Val)
c.638C>T (p.Ala213Val)
c.1451C>T (p.Ala484Val)
c.1355C>T (p.Ala452Val)
c.8370+123997G>A (n.8370+123997G>A)
2g.108897043G>CCA348047963EDAR,RANBP2c.1211C>G (p.Ala404Gly)
c.1307C>G (p.Ala436Gly)
c.1358C>G (p.Ala453Gly)
c.1262C>G (p.Ala421Gly)
c.638C>G (p.Ala213Gly)
c.1451C>G (p.Ala484Gly)
c.1355C>G (p.Ala452Gly)
c.8370+123997G>C (n.8370+123997G>C)
2g.108897043G>TCA348047965EDAR,RANBP2c.1211C>A (p.Ala404Glu)
c.1307C>A (p.Ala436Glu)
c.1358C>A (p.Ala453Glu)
c.1262C>A (p.Ala421Glu)
c.638C>A (p.Ala213Glu)
c.1451C>A (p.Ala484Glu)
c.1355C>A (p.Ala452Glu)
c.8370+123997G>T (n.8370+123997G>T)
2g.108897044C>ACA348047971EDAR,RANBP2c.1210G>T (p.Ala404Ser)
c.1306G>T (p.Ala436Ser)
c.1357G>T (p.Ala453Ser)
c.1261G>T (p.Ala421Ser)
c.637G>T (p.Ala213Ser)
c.1450G>T (p.Ala484Ser)
c.1354G>T (p.Ala452Ser)
c.8370+123998C>A (n.8370+123998C>A)
2g.108897044C>GCA348047969EDAR,RANBP2c.1210G>C (p.Ala404Pro)
c.1306G>C (p.Ala436Pro)
c.1357G>C (p.Ala453Pro)
c.1261G>C (p.Ala421Pro)
c.637G>C (p.Ala213Pro)
c.1450G>C (p.Ala484Pro)
c.1354G>C (p.Ala452Pro)
c.8370+123998C>G (n.8370+123998C>G)
2g.108897044C>TCA348047967EDAR,RANBP2c.1210G>A (p.Ala404Thr)
c.1306G>A (p.Ala436Thr)
c.1357G>A (p.Ala453Thr)
c.1261G>A (p.Ala421Thr)
c.637G>A (p.Ala213Thr)
c.1450G>A (p.Ala484Thr)
c.1354G>A (p.Ala452Thr)
c.8370+123998C>T (n.8370+123998C>T)
 gnomAD v4 COSMIC COSMIC
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)

Number of alleles fetched