Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108896895C>ACA2660593308EDAR,RANBP2c.*12G>T (n.*12G>T)
c.8370+123849C>A (n.8370+123849C>A)
gnomAD v4
2g.108896895C=CA1278354179EDAR,RANBP2c.*12G= (n.*12G=)
c.8370+123849C= (n.8370+123849C=)
2g.108896895C>GCA1824777EDAR,RANBP2c.*12G>C (n.*12G>C)
c.8370+123849C>G (n.8370+123849C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896895C>TCA2577065491EDAR,RANBP2c.*12G>A (n.*12G>A)
c.8370+123849C>T (n.8370+123849C>T)
gnomAD v4
2g.108896895_108896896delinsCACA1278354178EDAR,RANBP2c.*11_*12delinsTG (n.*11_*12delinsTG)
c.8370+123849_8370+123850delinsCA (n.8370+123849_8370+123850delinsCA)
2g.108896896delCA1824778EDAR,RANBP2c.*11del (n.*11del)
c.8370+123850del (n.8370+123850del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896896A=CA1278354180EDAR,RANBP2c.*11T= (n.*11T=)
c.8370+123850A= (n.8370+123850A=)
2g.108896896A>GCA1278354181EDAR,RANBP2c.*11T>C (n.*11T>C)
c.8370+123850A>G (n.8370+123850A>G)
dbSNP
2g.108896898delCA348047390EDAR,RANBP2c.*10del (n.*10del)
c.8370+123852del (n.8370+123852del)
2g.108896898G>ACA2660593310EDAR,RANBP2c.*9C>T (n.*9C>T)
c.8370+123852G>A (n.8370+123852G>A)
gnomAD v4
2g.108896898G>CCA1824779EDAR,RANBP2c.*9C>G (n.*9C>G)
c.8370+123852G>C (n.8370+123852G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896898G=CA1278354182EDAR,RANBP2c.*9C= (n.*9C=)
c.8370+123852G= (n.8370+123852G=)
2g.108896899C>ACA2660593312EDAR,RANBP2c.*8G>T (n.*8G>T)
c.8370+123853C>A (n.8370+123853C>A)
gnomAD v4
2g.108896900A>GCA2660593313EDAR,RANBP2c.*7T>C (n.*7T>C)
c.8370+123854A>G (n.8370+123854A>G)
gnomAD v4
2g.108896901T>ACA2660593315EDAR,RANBP2c.*6A>T (n.*6A>T)
c.8370+123855T>A (n.8370+123855T>A)
gnomAD v4
2g.108896901T>CCA2660593316EDAR,RANBP2c.*6A>G (n.*6A>G)
c.8370+123855T>C (n.8370+123855T>C)
gnomAD v4
2g.108896901_108896902delinsTGCA1278354183EDAR,RANBP2c.*5_*6delinsCA (n.*5_*6delinsCA)
c.8370+123855_8370+123856delinsTG (n.8370+123855_8370+123856delinsTG)
2g.108896902delCA1278354184EDAR,RANBP2c.*5del (n.*5del)
c.8370+123856del (n.8370+123856del)
dbSNP
2g.108896902G>CCA1278354186EDAR,RANBP2c.*5C>G (n.*5C>G)
c.8370+123856G>C (n.8370+123856G>C)
dbSNP
2g.108896902G=CA1278354185EDAR,RANBP2c.*5C= (n.*5C=)
c.8370+123856G= (n.8370+123856G=)
2g.108896903C=CA1278354187EDAR,RANBP2c.*4G= (n.*4G=)
c.8370+123857C= (n.8370+123857C=)
2g.108896903C>TCA2660593317EDAR,RANBP2c.*4G>A (n.*4G>A)
c.8370+123857C>T (n.8370+123857C>T)
gnomAD v4
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)

Number of alleles fetched