Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108896907dupCA535593630EDAR,RANBP2c.*3dup (n.*3dup)
c.8370+123861dup (n.8370+123861dup)
 dbSNP gnomAD v2 gnomAD v4
2g.108896907T>ACA348047398EDAR,RANBP2c.1347A>T (p.Ter449Cys)
c.1443A>T (p.Ter481Cys)
c.1494A>T (p.Ter498Cys)
c.1398A>T (p.Ter466Cys)
c.774A>T (p.Ter258Cys)
c.1587A>T (p.Ter529Cys)
c.1491A>T (p.Ter497Cys)
c.8370+123861T>A (n.8370+123861T>A)
2g.108896907T>CCA348047394EDAR,RANBP2c.1347A>G (p.Ter449Trp)
c.1443A>G (p.Ter481Trp)
c.1494A>G (p.Ter498Trp)
c.1398A>G (p.Ter466Trp)
c.774A>G (p.Ter258Trp)
c.1587A>G (p.Ter529Trp)
c.1491A>G (p.Ter497Trp)
c.8370+123861T>C (n.8370+123861T>C)
2g.108896907T>GCA348047396EDAR,RANBP2c.1347A>C (p.Ter449Cys)
c.1443A>C (p.Ter481Cys)
c.1494A>C (p.Ter498Cys)
c.1398A>C (p.Ter466Cys)
c.774A>C (p.Ter258Cys)
c.1587A>C (p.Ter529Cys)
c.1491A>C (p.Ter497Cys)
c.8370+123861T>G (n.8370+123861T>G)
2g.108896908C>ACA348047400EDAR,RANBP2c.1346G>T (p.Ter449Leu)
c.1442G>T (p.Ter481Leu)
c.1493G>T (p.Ter498Leu)
c.1397G>T (p.Ter466Leu)
c.773G>T (p.Ter258Leu)
c.1586G>T (p.Ter529Leu)
c.1490G>T (p.Ter497Leu)
c.8370+123862C>A (n.8370+123862C>A)
2g.108896908C>GCA348047402EDAR,RANBP2c.1346G>C (p.Ter449Ser)
c.1442G>C (p.Ter481Ser)
c.1493G>C (p.Ter498Ser)
c.1397G>C (p.Ter466Ser)
c.773G>C (p.Ter258Ser)
c.1586G>C (p.Ter529Ser)
c.1490G>C (p.Ter497Ser)
c.8370+123862C>G (n.8370+123862C>G)
2g.108896908C>TCA428203857EDAR,RANBP2c.1346G>A (p.Ter449=)
c.1442G>A (p.Ter481=)
c.1493G>A (p.Ter498=)
c.1397G>A (p.Ter466=)
c.773G>A (p.Ter258=)
c.1586G>A (p.Ter529=)
c.1490G>A (p.Ter497=)
c.8370+123862C>T (n.8370+123862C>T)
2g.108896909A=CA1278354188EDAR,RANBP2c.1345T= (p.Ter449=)
c.1441T= (p.Ter481=)
c.1492T= (p.Ter498=)
c.1396T= (p.Ter466=)
c.772T= (p.Ter258=)
c.1585T= (p.Ter529=)
c.1489T= (p.Ter497=)
c.8370+123863A= (n.8370+123863A=)
2g.108896909A>CCA348047404EDAR,RANBP2c.1345T>G (p.Ter449Gly)
c.1441T>G (p.Ter481Gly)
c.1492T>G (p.Ter498Gly)
c.1396T>G (p.Ter466Gly)
c.772T>G (p.Ter258Gly)
c.1585T>G (p.Ter529Gly)
c.1489T>G (p.Ter497Gly)
c.8370+123863A>C (n.8370+123863A>C)
2g.108896909A>GCA348047406EDAR,RANBP2c.1345T>C (p.Ter449Arg)
c.1441T>C (p.Ter481Arg)
c.1492T>C (p.Ter498Arg)
c.1396T>C (p.Ter466Arg)
c.772T>C (p.Ter258Arg)
c.1585T>C (p.Ter529Arg)
c.1489T>C (p.Ter497Arg)
c.8370+123863A>G (n.8370+123863A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108896909A>TCA348047407EDAR,RANBP2c.1345T>A (p.Ter449Arg)
c.1441T>A (p.Ter481Arg)
c.1492T>A (p.Ter498Arg)
c.1396T>A (p.Ter466Arg)
c.772T>A (p.Ter258Arg)
c.1585T>A (p.Ter529Arg)
c.1489T>A (p.Ter497Arg)
c.8370+123863A>T (n.8370+123863A>T)
2g.108896910G>ACA428203860EDAR,RANBP2c.1344C>T (p.Ser448=)
c.1440C>T (p.Ser480=)
c.1491C>T (p.Ser497=)
c.1395C>T (p.Ser465=)
c.771C>T (p.Ser257=)
c.1584C>T (p.Ser528=)
c.1488C>T (p.Ser496=)
c.8370+123864G>A (n.8370+123864G>A)
2g.108896910G>CCA428203859EDAR,RANBP2c.1344C>G (p.Ser448=)
c.1440C>G (p.Ser480=)
c.1491C>G (p.Ser497=)
c.1395C>G (p.Ser465=)
c.771C>G (p.Ser257=)
c.1584C>G (p.Ser528=)
c.1488C>G (p.Ser496=)
c.8370+123864G>C (n.8370+123864G>C)
2g.108896910G>TCA428203858EDAR,RANBP2c.1344C>A (p.Ser448=)
c.1440C>A (p.Ser480=)
c.1491C>A (p.Ser497=)
c.1395C>A (p.Ser465=)
c.771C>A (p.Ser257=)
c.1584C>A (p.Ser528=)
c.1488C>A (p.Ser496=)
c.8370+123864G>T (n.8370+123864G>T)
2g.108896911G>ACA348047409EDAR,RANBP2c.1343C>T (p.Ser448Phe)
c.1439C>T (p.Ser480Phe)
c.1490C>T (p.Ser497Phe)
c.1394C>T (p.Ser465Phe)
c.770C>T (p.Ser257Phe)
c.1583C>T (p.Ser528Phe)
c.1487C>T (p.Ser496Phe)
c.8370+123865G>A (n.8370+123865G>A)
2g.108896911G>CCA348047410EDAR,RANBP2c.1343C>G (p.Ser448Cys)
c.1439C>G (p.Ser480Cys)
c.1490C>G (p.Ser497Cys)
c.1394C>G (p.Ser465Cys)
c.770C>G (p.Ser257Cys)
c.1583C>G (p.Ser528Cys)
c.1487C>G (p.Ser496Cys)
c.8370+123865G>C (n.8370+123865G>C)
2g.108896911G>TCA348047412EDAR,RANBP2c.1343C>A (p.Ser448Tyr)
c.1439C>A (p.Ser480Tyr)
c.1490C>A (p.Ser497Tyr)
c.1394C>A (p.Ser465Tyr)
c.770C>A (p.Ser257Tyr)
c.1583C>A (p.Ser528Tyr)
c.1487C>A (p.Ser496Tyr)
c.8370+123865G>T (n.8370+123865G>T)
2g.108896912A>CCA348047415EDAR,RANBP2c.1342T>G (p.Ser448Ala)
c.1438T>G (p.Ser480Ala)
c.1489T>G (p.Ser497Ala)
c.1393T>G (p.Ser465Ala)
c.769T>G (p.Ser257Ala)
c.1582T>G (p.Ser528Ala)
c.1486T>G (p.Ser496Ala)
c.8370+123866A>C (n.8370+123866A>C)
2g.108896912A>GCA348047416EDAR,RANBP2c.1342T>C (p.Ser448Pro)
c.1438T>C (p.Ser480Pro)
c.1489T>C (p.Ser497Pro)
c.1393T>C (p.Ser465Pro)
c.769T>C (p.Ser257Pro)
c.1582T>C (p.Ser528Pro)
c.1486T>C (p.Ser496Pro)
c.8370+123866A>G (n.8370+123866A>G)
2g.108896912A>TCA348047418EDAR,RANBP2c.1342T>A (p.Ser448Thr)
c.1438T>A (p.Ser480Thr)
c.1489T>A (p.Ser497Thr)
c.1393T>A (p.Ser465Thr)
c.769T>A (p.Ser257Thr)
c.1582T>A (p.Ser528Thr)
c.1486T>A (p.Ser496Thr)
c.8370+123866A>T (n.8370+123866A>T)
2g.108896913T>ACA428203861EDAR,RANBP2c.1341A>T (p.Ala447=)
c.1437A>T (p.Ala479=)
c.1488A>T (p.Ala496=)
c.1392A>T (p.Ala464=)
c.768A>T (p.Ala256=)
c.1581A>T (p.Ala527=)
c.1485A>T (p.Ala495=)
c.8370+123867T>A (n.8370+123867T>A)
2g.108896913T>CCA428203862EDAR,RANBP2c.1341A>G (p.Ala447=)
c.1437A>G (p.Ala479=)
c.1488A>G (p.Ala496=)
c.1392A>G (p.Ala464=)
c.768A>G (p.Ala256=)
c.1581A>G (p.Ala527=)
c.1485A>G (p.Ala495=)
c.8370+123867T>C (n.8370+123867T>C)
 gnomAD v4
2g.108896913T>GCA428203863EDAR,RANBP2c.1341A>C (p.Ala447=)
c.1437A>C (p.Ala479=)
c.1488A>C (p.Ala496=)
c.1392A>C (p.Ala464=)
c.768A>C (p.Ala256=)
c.1581A>C (p.Ala527=)
c.1485A>C (p.Ala495=)
c.8370+123867T>G (n.8370+123867T>G)
2g.108896914G>ACA348047423EDAR,RANBP2c.1340C>T (p.Ala447Val)
c.1436C>T (p.Ala479Val)
c.1487C>T (p.Ala496Val)
c.1391C>T (p.Ala464Val)
c.767C>T (p.Ala256Val)
c.1580C>T (p.Ala527Val)
c.1484C>T (p.Ala495Val)
c.8370+123868G>A (n.8370+123868G>A)
 gnomAD v4
2g.108896914G>CCA348047421EDAR,RANBP2c.1340C>G (p.Ala447Gly)
c.1436C>G (p.Ala479Gly)
c.1487C>G (p.Ala496Gly)
c.1391C>G (p.Ala464Gly)
c.767C>G (p.Ala256Gly)
c.1580C>G (p.Ala527Gly)
c.1484C>G (p.Ala495Gly)
c.8370+123868G>C (n.8370+123868G>C)
2g.108896914G>TCA348047420EDAR,RANBP2c.1340C>A (p.Ala447Glu)
c.1436C>A (p.Ala479Glu)
c.1487C>A (p.Ala496Glu)
c.1391C>A (p.Ala464Glu)
c.767C>A (p.Ala256Glu)
c.1580C>A (p.Ala527Glu)
c.1484C>A (p.Ala495Glu)
c.8370+123868G>T (n.8370+123868G>T)
2g.108896915C>ACA348047426EDAR,RANBP2c.1339G>T (p.Ala447Ser)
c.1435G>T (p.Ala479Ser)
c.1486G>T (p.Ala496Ser)
c.1390G>T (p.Ala464Ser)
c.766G>T (p.Ala256Ser)
c.1579G>T (p.Ala527Ser)
c.1483G>T (p.Ala495Ser)
c.8370+123869C>A (n.8370+123869C>A)
2g.108896915C>GCA348047428EDAR,RANBP2c.1339G>C (p.Ala447Pro)
c.1435G>C (p.Ala479Pro)
c.1486G>C (p.Ala496Pro)
c.1390G>C (p.Ala464Pro)
c.766G>C (p.Ala256Pro)
c.1579G>C (p.Ala527Pro)
c.1483G>C (p.Ala495Pro)
c.8370+123869C>G (n.8370+123869C>G)
2g.108896915C>TCA348047429EDAR,RANBP2c.1339G>A (p.Ala447Thr)
c.1435G>A (p.Ala479Thr)
c.1486G>A (p.Ala496Thr)
c.1390G>A (p.Ala464Thr)
c.766G>A (p.Ala256Thr)
c.1579G>A (p.Ala527Thr)
c.1483G>A (p.Ala495Thr)
c.8370+123869C>T (n.8370+123869C>T)
 gnomAD v4
2g.108896916A=CA1278354189EDAR,RANBP2c.1338T= (p.Ala446=)
c.1434T= (p.Ala478=)
c.1485T= (p.Ala495=)
c.1389T= (p.Ala463=)
c.765T= (p.Ala255=)
c.1578T= (p.Ala526=)
c.1482T= (p.Ala494=)
c.8370+123870A= (n.8370+123870A=)
2g.108896916A>CCA428203864EDAR,RANBP2c.1338T>G (p.Ala446=)
c.1434T>G (p.Ala478=)
c.1485T>G (p.Ala495=)
c.1389T>G (p.Ala463=)
c.765T>G (p.Ala255=)
c.1578T>G (p.Ala526=)
c.1482T>G (p.Ala494=)
c.8370+123870A>C (n.8370+123870A>C)
2g.108896916A>GCA1824780EDAR,RANBP2c.1338T>C (p.Ala446=)
c.1434T>C (p.Ala478=)
c.1485T>C (p.Ala495=)
c.1389T>C (p.Ala463=)
c.765T>C (p.Ala255=)
c.1578T>C (p.Ala526=)
c.1482T>C (p.Ala494=)
c.8370+123870A>G (n.8370+123870A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896916A>TCA428203865EDAR,RANBP2c.1338T>A (p.Ala446=)
c.1434T>A (p.Ala478=)
c.1485T>A (p.Ala495=)
c.1389T>A (p.Ala463=)
c.765T>A (p.Ala255=)
c.1578T>A (p.Ala526=)
c.1482T>A (p.Ala494=)
c.8370+123870A>T (n.8370+123870A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.108896917G>ACA348047430EDAR,RANBP2c.1337C>T (p.Ala446Val)
c.1433C>T (p.Ala478Val)
c.1484C>T (p.Ala495Val)
c.1388C>T (p.Ala463Val)
c.764C>T (p.Ala255Val)
c.1577C>T (p.Ala526Val)
c.1481C>T (p.Ala494Val)
c.8370+123871G>A (n.8370+123871G>A)
2g.108896917G>CCA348047431EDAR,RANBP2c.1337C>G (p.Ala446Gly)
c.1433C>G (p.Ala478Gly)
c.1484C>G (p.Ala495Gly)
c.1388C>G (p.Ala463Gly)
c.764C>G (p.Ala255Gly)
c.1577C>G (p.Ala526Gly)
c.1481C>G (p.Ala494Gly)
c.8370+123871G>C (n.8370+123871G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108896917G=CA1278354190EDAR,RANBP2c.1337C= (p.Ala446=)
c.1433C= (p.Ala478=)
c.1484C= (p.Ala495=)
c.1388C= (p.Ala463=)
c.764C= (p.Ala255=)
c.1577C= (p.Ala526=)
c.1481C= (p.Ala494=)
c.8370+123871G= (n.8370+123871G=)
2g.108896917G>TCA348047432EDAR,RANBP2c.1337C>A (p.Ala446Asp)
c.1433C>A (p.Ala478Asp)
c.1484C>A (p.Ala495Asp)
c.1388C>A (p.Ala463Asp)
c.764C>A (p.Ala255Asp)
c.1577C>A (p.Ala526Asp)
c.1481C>A (p.Ala494Asp)
c.8370+123871G>T (n.8370+123871G>T)
2g.108896918C>ACA348047433EDAR,RANBP2c.1336G>T (p.Ala446Ser)
c.1432G>T (p.Ala478Ser)
c.1483G>T (p.Ala495Ser)
c.1387G>T (p.Ala463Ser)
c.763G>T (p.Ala255Ser)
c.1576G>T (p.Ala526Ser)
c.1480G>T (p.Ala494Ser)
c.8370+123872C>A (n.8370+123872C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108896918C=CA1278354192EDAR,RANBP2c.1336G= (p.Ala446=)
c.1432G= (p.Ala478=)
c.1483G= (p.Ala495=)
c.1387G= (p.Ala463=)
c.763G= (p.Ala255=)
c.1576G= (p.Ala526=)
c.1480G= (p.Ala494=)
c.8370+123872C= (n.8370+123872C=)
2g.108896918C>GCA348047434EDAR,RANBP2c.1336G>C (p.Ala446Pro)
c.1432G>C (p.Ala478Pro)
c.1483G>C (p.Ala495Pro)
c.1387G>C (p.Ala463Pro)
c.763G>C (p.Ala255Pro)
c.1576G>C (p.Ala526Pro)
c.1480G>C (p.Ala494Pro)
c.8370+123872C>G (n.8370+123872C>G)
2g.108896918C>TCA348047435EDAR,RANBP2c.1336G>A (p.Ala446Thr)
c.1432G>A (p.Ala478Thr)
c.1483G>A (p.Ala495Thr)
c.1387G>A (p.Ala463Thr)
c.763G>A (p.Ala255Thr)
c.1576G>A (p.Ala526Thr)
c.1480G>A (p.Ala494Thr)
c.8370+123872C>T (n.8370+123872C>T)
2g.108896918_108896919delinsCACA1278354191EDAR,RANBP2c.1335_1336delinsTG (p.His445=)
c.1431_1432delinsTG (p.His477=)
c.1482_1483delinsTG (p.His494=)
c.1386_1387delinsTG (p.His462=)
c.762_763delinsTG (p.His254=)
c.1575_1576delinsTG (p.His525=)
c.1479_1480delinsTG (p.His493=)
c.8370+123872_8370+123873delinsCA (n.8370+123872_8370+123873delinsCA)
2g.108896919delCA53464610EDAR,RANBP2c.1335del (p.His445GlnfsTer?)
c.1431del (p.His477GlnfsTer?)
c.1482del (p.His494GlnfsTer?)
c.1386del (p.His462GlnfsTer?)
c.762del (p.His254GlnfsTer?)
c.1575del (p.His525GlnfsTer?)
c.1479del (p.His493GlnfsTer?)
c.8370+123873del (n.8370+123873del)
 dbSNP gnomAD v4
2g.108896919A=CA1278354193EDAR,RANBP2c.1335T= (p.His445=)
c.1431T= (p.His477=)
c.1482T= (p.His494=)
c.1386T= (p.His462=)
c.762T= (p.His254=)
c.1575T= (p.His525=)
c.1479T= (p.His493=)
c.8370+123873A= (n.8370+123873A=)
2g.108896919A>CCA348047436EDAR,RANBP2c.1335T>G (p.His445Gln)
c.1431T>G (p.His477Gln)
c.1482T>G (p.His494Gln)
c.1386T>G (p.His462Gln)
c.762T>G (p.His254Gln)
c.1575T>G (p.His525Gln)
c.1479T>G (p.His493Gln)
c.8370+123873A>C (n.8370+123873A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108896919A>GCA428203866EDAR,RANBP2c.1335T>C (p.His445=)
c.1431T>C (p.His477=)
c.1482T>C (p.His494=)
c.1386T>C (p.His462=)
c.762T>C (p.His254=)
c.1575T>C (p.His525=)
c.1479T>C (p.His493=)
c.8370+123873A>G (n.8370+123873A>G)
2g.108896919A>TCA348047437EDAR,RANBP2c.1335T>A (p.His445Gln)
c.1431T>A (p.His477Gln)
c.1482T>A (p.His494Gln)
c.1386T>A (p.His462Gln)
c.762T>A (p.His254Gln)
c.1575T>A (p.His525Gln)
c.1479T>A (p.His493Gln)
c.8370+123873A>T (n.8370+123873A>T)
2g.108896920T>ACA348047442EDAR,RANBP2c.1334A>T (p.His445Leu)
c.1430A>T (p.His477Leu)
c.1481A>T (p.His494Leu)
c.1385A>T (p.His462Leu)
c.761A>T (p.His254Leu)
c.1574A>T (p.His525Leu)
c.1478A>T (p.His493Leu)
c.8370+123874T>A (n.8370+123874T>A)
 gnomAD v4
2g.108896920T>CCA348047444EDAR,RANBP2c.1334A>G (p.His445Arg)
c.1430A>G (p.His477Arg)
c.1481A>G (p.His494Arg)
c.1385A>G (p.His462Arg)
c.761A>G (p.His254Arg)
c.1574A>G (p.His525Arg)
c.1478A>G (p.His493Arg)
c.8370+123874T>C (n.8370+123874T>C)
2g.108896920T>GCA348047440EDAR,RANBP2c.1334A>C (p.His445Pro)
c.1430A>C (p.His477Pro)
c.1481A>C (p.His494Pro)
c.1385A>C (p.His462Pro)
c.761A>C (p.His254Pro)
c.1574A>C (p.His525Pro)
c.1478A>C (p.His493Pro)
c.8370+123874T>G (n.8370+123874T>G)

Number of alleles fetched