Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108896829T>CCA2660593146EDAR,RANBP2c.*78A>G (n.*78A>G)
c.8370+123783T>C (n.8370+123783T>C)
 gnomAD v4
2g.108896832delCA2660593145EDAR,RANBP2c.*78del (n.*78del)
c.8370+123786del (n.8370+123786del)
 gnomAD v4
2g.108896831T>CCA2660593147EDAR,RANBP2c.*76A>G (n.*76A>G)
c.8370+123785T>C (n.8370+123785T>C)
 gnomAD v4
2g.108896832T>CCA1278354148EDAR,RANBP2c.*75A>G (n.*75A>G)
c.8370+123786T>C (n.8370+123786T>C)
 dbSNP gnomAD v4
2g.108896832T=CA1278354149EDAR,RANBP2c.*75A= (n.*75A=)
c.8370+123786T= (n.8370+123786T=)
2g.108896833G>TCA2577065475EDAR,RANBP2c.*74C>A (n.*74C>A)
c.8370+123787G>T (n.8370+123787G>T)
 gnomAD v4
2g.108896834G>ACA53464544EDAR,RANBP2c.*73C>T (n.*73C>T)
c.8370+123788G>A (n.8370+123788G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108896834G=CA1278354150EDAR,RANBP2c.*73C= (n.*73C=)
c.8370+123788G= (n.8370+123788G=)
2g.108896834G>TCA646946561EDAR,RANBP2c.*73C>A (n.*73C>A)
c.8370+123788G>T (n.8370+123788G>T)
 gnomAD v4 COSMIC
2g.108896835C>ACA2660593148EDAR,RANBP2c.*72G>T (n.*72G>T)
c.8370+123789C>A (n.8370+123789C>A)
 gnomAD v4
2g.108896835C>TCA2660593149EDAR,RANBP2c.*72G>A (n.*72G>A)
c.8370+123789C>T (n.8370+123789C>T)
 gnomAD v4
2g.108896836A>GCA2660593150EDAR,RANBP2c.*71T>C (n.*71T>C)
c.8370+123790A>G (n.8370+123790A>G)
 gnomAD v4
2g.108896837C>ACA2660593151EDAR,RANBP2c.*70G>T (n.*70G>T)
c.8370+123791C>A (n.8370+123791C>A)
 gnomAD v4
2g.108896837C=CA1278354151EDAR,RANBP2c.*70G= (n.*70G=)
c.8370+123791C= (n.8370+123791C=)
2g.108896837C>GCA1278354152EDAR,RANBP2c.*70G>C (n.*70G>C)
c.8370+123791C>G (n.8370+123791C>G)
 dbSNP gnomAD v4
2g.108896838C>ACA2660593154EDAR,RANBP2c.*69G>T (n.*69G>T)
c.8370+123792C>A (n.8370+123792C>A)
 gnomAD v4
2g.108896838C=CA1278354153EDAR,RANBP2c.*69G= (n.*69G=)
c.8370+123792C= (n.8370+123792C=)
2g.108896838C>TCA53464549EDAR,RANBP2c.*69G>A (n.*69G>A)
c.8370+123792C>T (n.8370+123792C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108896841_108896844dupCA2660593156EDAR,RANBP2c.*66_*69dup (n.*66_*69dup)
c.8370+123795_8370+123798dup (n.8370+123795_8370+123798dup)
 gnomAD v4
2g.108896839A=CA1278354154EDAR,RANBP2c.*68T= (n.*68T=)
c.8370+123793A= (n.8370+123793A=)
2g.108896839A>TCA53464556EDAR,RANBP2c.*68T>A (n.*68T>A)
c.8370+123793A>T (n.8370+123793A>T)
 dbSNP gnomAD v4
2g.108896840C>ACA2660593158EDAR,RANBP2c.*67G>T (n.*67G>T)
c.8370+123794C>A (n.8370+123794C>A)
 gnomAD v4
2g.108896840C>TCA2660593159EDAR,RANBP2c.*67G>A (n.*67G>A)
c.8370+123794C>T (n.8370+123794C>T)
 gnomAD v4
2g.108896841T>ACA2660593160EDAR,RANBP2c.*66A>T (n.*66A>T)
c.8370+123795T>A (n.8370+123795T>A)
 dbSNP gnomAD v4
2g.108896841T>CCA2660593161EDAR,RANBP2c.*66A>G (n.*66A>G)
c.8370+123795T>C (n.8370+123795T>C)
 gnomAD v4
2g.108896842C>ACA2660593165EDAR,RANBP2c.*65G>T (n.*65G>T)
c.8370+123796C>A (n.8370+123796C>A)
 gnomAD v4
2g.108896842C=CA1278354156EDAR,RANBP2c.*65G= (n.*65G=)
c.8370+123796C= (n.8370+123796C=)
2g.108896842C>GCA2660593166EDAR,RANBP2c.*65G>C (n.*65G>C)
c.8370+123796C>G (n.8370+123796C>G)
 gnomAD v4
2g.108896842C>TCA1278354155EDAR,RANBP2c.*65G>A (n.*65G>A)
c.8370+123796C>T (n.8370+123796C>T)
 dbSNP gnomAD v4
2g.108896844_108896845delCA2660593164EDAR,RANBP2c.*64_*65del (n.*64_*65del)
c.8370+123798_8370+123799del (n.8370+123798_8370+123799del)
 gnomAD v4
2g.108896843A>TCA2660593169EDAR,RANBP2c.*64T>A (n.*64T>A)
c.8370+123797A>T (n.8370+123797A>T)
 gnomAD v4
2g.108896844C>ACA2660593170EDAR,RANBP2c.*63G>T (n.*63G>T)
c.8370+123798C>A (n.8370+123798C>A)
 gnomAD v4
2g.108896844C>GCA2660593171EDAR,RANBP2c.*63G>C (n.*63G>C)
c.8370+123798C>G (n.8370+123798C>G)
 gnomAD v4
2g.108896844C>TCA2660593173EDAR,RANBP2c.*63G>A (n.*63G>A)
c.8370+123798C>T (n.8370+123798C>T)
 gnomAD v4
2g.108896845A>GCA2577065478EDAR,RANBP2c.*62T>C (n.*62T>C)
c.8370+123799A>G (n.8370+123799A>G)
 gnomAD v4
2g.108896845A>TCA2660593174EDAR,RANBP2c.*62T>A (n.*62T>A)
c.8370+123799A>T (n.8370+123799A>T)
 gnomAD v4
2g.108896848_108896855delCA2577065477EDAR,RANBP2c.*55_*62del (n.*55_*62del)
c.8370+123802_8370+123809del (n.8370+123802_8370+123809del)
2g.108896846G>ACA2660593175EDAR,RANBP2c.*61C>T (n.*61C>T)
c.8370+123800G>A (n.8370+123800G>A)
 gnomAD v4
2g.108896846G>TCA2660593176EDAR,RANBP2c.*61C>A (n.*61C>A)
c.8370+123800G>T (n.8370+123800G>T)
 gnomAD v4
2g.108896847C>ACA2660593179EDAR,RANBP2c.*60G>T (n.*60G>T)
c.8370+123801C>A (n.8370+123801C>A)
 gnomAD v4
2g.108896847C>TCA2660593181EDAR,RANBP2c.*60G>A (n.*60G>A)
c.8370+123801C>T (n.8370+123801C>T)
 gnomAD v4
2g.108896848T>ACA2660593182EDAR,RANBP2c.*59A>T (n.*59A>T)
c.8370+123802T>A (n.8370+123802T>A)
 gnomAD v4
2g.108896849C>ACA2660593183EDAR,RANBP2c.*58G>T (n.*58G>T)
c.8370+123803C>A (n.8370+123803C>A)
 gnomAD v4
2g.108896850C>ACA2660593185EDAR,RANBP2c.*57G>T (n.*57G>T)
c.8370+123804C>A (n.8370+123804C>A)
 gnomAD v4
2g.108896850C>TCA2660593187EDAR,RANBP2c.*57G>A (n.*57G>A)
c.8370+123804C>T (n.8370+123804C>T)
 gnomAD v4
2g.108896851A>CCA2660593189EDAR,RANBP2c.*56T>G (n.*56T>G)
c.8370+123805A>C (n.8370+123805A>C)
 gnomAD v4
2g.108896852G>ACA914451796EDAR,RANBP2c.*55C>T (n.*55C>T)
c.8370+123806G>A (n.8370+123806G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108896852G>CCA2660593192EDAR,RANBP2c.*55C>G (n.*55C>G)
c.8370+123806G>C (n.8370+123806G>C)
 gnomAD v4
2g.108896852G=CA1278354157EDAR,RANBP2c.*55C= (n.*55C=)
c.8370+123806G= (n.8370+123806G=)
2g.108896852G>TCA2660593194EDAR,RANBP2c.*55C>A (n.*55C>A)
c.8370+123806G>T (n.8370+123806G>T)
 gnomAD v4
2g.108896853A=CA1278354158EDAR,RANBP2c.*54T= (n.*54T=)
c.8370+123807A= (n.8370+123807A=)
2g.108896853A>GCA1278354159EDAR,RANBP2c.*54T>C (n.*54T>C)
c.8370+123807A>G (n.8370+123807A>G)
 dbSNP gnomAD v4
2g.108896854G>ACA2660593199EDAR,RANBP2c.*53C>T (n.*53C>T)
c.8370+123808G>A (n.8370+123808G>A)
 gnomAD v4
2g.108896854G>TCA2660593201EDAR,RANBP2c.*53C>A (n.*53C>A)
c.8370+123808G>T (n.8370+123808G>T)
 gnomAD v4
2g.108896855C>ACA2660593202EDAR,RANBP2c.*52G>T (n.*52G>T)
c.8370+123809C>A (n.8370+123809C>A)
 gnomAD v4
2g.108896855C>TCA2660593203EDAR,RANBP2c.*52G>A (n.*52G>A)
c.8370+123809C>T (n.8370+123809C>T)
 gnomAD v4
2g.108896857delCA2577065480EDAR,RANBP2c.*52del (n.*52del)
c.8370+123811del (n.8370+123811del)
2g.108896856C>ACA1824772EDAR,RANBP2c.*51G>T (n.*51G>T)
c.8370+123810C>A (n.8370+123810C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896856C=CA1278354160EDAR,RANBP2c.*51G= (n.*51G=)
c.8370+123810C= (n.8370+123810C=)
2g.108896857C>ACA2660593208EDAR,RANBP2c.*50G>T (n.*50G>T)
c.8370+123811C>A (n.8370+123811C>A)
 gnomAD v4
2g.108896857C=CA1278354161EDAR,RANBP2c.*50G= (n.*50G=)
c.8370+123811C= (n.8370+123811C=)
2g.108896857C>TCA754955485EDAR,RANBP2c.*50G>A (n.*50G>A)
c.8370+123811C>T (n.8370+123811C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.108896859C>ACA2660593210EDAR,RANBP2c.*48G>T (n.*48G>T)
c.8370+123813C>A (n.8370+123813C>A)
 gnomAD v4
2g.108896859C=CA1278354162EDAR,RANBP2c.*48G= (n.*48G=)
c.8370+123813C= (n.8370+123813C=)
2g.108896859C>TCA1824773EDAR,RANBP2c.*48G>A (n.*48G>A)
c.8370+123813C>T (n.8370+123813C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896860G>ACA1824774EDAR,RANBP2c.*47C>T (n.*47C>T)
c.8370+123814G>A (n.8370+123814G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896860G>CCA2577065481EDAR,RANBP2c.*47C>G (n.*47C>G)
c.8370+123814G>C (n.8370+123814G>C)
 gnomAD v4
2g.108896860G=CA1278354163EDAR,RANBP2c.*47C= (n.*47C=)
c.8370+123814G= (n.8370+123814G=)
2g.108896860G>TCA2660593212EDAR,RANBP2c.*47C>A (n.*47C>A)
c.8370+123814G>T (n.8370+123814G>T)
 gnomAD v4
2g.108896861T>CCA53464563EDAR,RANBP2c.*46A>G (n.*46A>G)
c.8370+123815T>C (n.8370+123815T>C)
 dbSNP gnomAD v4
2g.108896861T=CA1278354164EDAR,RANBP2c.*46A= (n.*46A=)
c.8370+123815T= (n.8370+123815T=)
2g.108896863G>TCA2660593214EDAR,RANBP2c.*44C>A (n.*44C>A)
c.8370+123817G>T (n.8370+123817G>T)
 gnomAD v4
2g.108896864G>TCA2577065482EDAR,RANBP2c.*43C>A (n.*43C>A)
c.8370+123818G>T (n.8370+123818G>T)
 gnomAD v4
2g.108896865C>ACA249809EDAR,RANBP2c.*42G>T (n.*42G>T)
c.8370+123819C>A (n.8370+123819C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896865C=CA1278354165EDAR,RANBP2c.*42G= (n.*42G=)
c.8370+123819C= (n.8370+123819C=)
2g.108896865C>GCA754955492EDAR,RANBP2c.*42G>C (n.*42G>C)
c.8370+123819C>G (n.8370+123819C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.108896865C>TCA2581817406EDAR,RANBP2c.*42G>A (n.*42G>A)
c.8370+123819C>T (n.8370+123819C>T)
 gnomAD v4
2g.108896865_108896866insACA2660593218EDAR,RANBP2c.*41_*42insT (n.*41_*42insT)
c.8370+123819_8370+123820insA (n.8370+123819_8370+123820insA)
 gnomAD v4
2g.108896867C>ACA2577065486EDAR,RANBP2c.*40G>T (n.*40G>T)
c.8370+123821C>A (n.8370+123821C>A)
 gnomAD v4
2g.108896867C=CA1278354166EDAR,RANBP2c.*40G= (n.*40G=)
c.8370+123821C= (n.8370+123821C=)
2g.108896867C>GCA1278354167EDAR,RANBP2c.*40G>C (n.*40G>C)
c.8370+123821C>G (n.8370+123821C>G)
 dbSNP
2g.108896868C>ACA2660593220EDAR,RANBP2c.*39G>T (n.*39G>T)
c.8370+123822C>A (n.8370+123822C>A)
 gnomAD v4
2g.108896868C=CA1278354168EDAR,RANBP2c.*39G= (n.*39G=)
c.8370+123822C= (n.8370+123822C=)
2g.108896868C>TCA535593597EDAR,RANBP2c.*39G>A (n.*39G>A)
c.8370+123822C>T (n.8370+123822C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.108896870T>GCA2577065487EDAR,RANBP2c.*37A>C (n.*37A>C)
c.8370+123824T>G (n.8370+123824T>G)
2g.108896871G>CCA2660593221EDAR,RANBP2c.*36C>G (n.*36C>G)
c.8370+123825G>C (n.8370+123825G>C)
 gnomAD v4
2g.108896871G>TCA2660593222EDAR,RANBP2c.*36C>A (n.*36C>A)
c.8370+123825G>T (n.8370+123825G>T)
 gnomAD v4
2g.108896872G>TCA2660593223EDAR,RANBP2c.*35C>A (n.*35C>A)
c.8370+123826G>T (n.8370+123826G>T)
 gnomAD v4
2g.108896873C=CA1278354169EDAR,RANBP2c.*34G= (n.*34G=)
c.8370+123827C= (n.8370+123827C=)
2g.108896873C>GCA2660593224EDAR,RANBP2c.*34G>C (n.*34G>C)
c.8370+123827C>G (n.8370+123827C>G)
 gnomAD v4
2g.108896873C>TCA535593598EDAR,RANBP2c.*34G>A (n.*34G>A)
c.8370+123827C>T (n.8370+123827C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108896875T>CCA2660593226EDAR,RANBP2c.*32A>G (n.*32A>G)
c.8370+123829T>C (n.8370+123829T>C)
 gnomAD v4
2g.108896876G>ACA1278354171EDAR,RANBP2c.*31C>T (n.*31C>T)
c.8370+123830G>A (n.8370+123830G>A)
 dbSNP gnomAD v4
2g.108896876G>CCA2660593229EDAR,RANBP2c.*31C>G (n.*31C>G)
c.8370+123830G>C (n.8370+123830G>C)
 gnomAD v4
2g.108896876G=CA1278354170EDAR,RANBP2c.*31C= (n.*31C=)
c.8370+123830G= (n.8370+123830G=)
2g.108896876G>TCA2521066207EDAR,RANBP2c.*31C>A (n.*31C>A)
c.8370+123830G>T (n.8370+123830G>T)
 gnomAD v4
2g.108896878C>ACA2660593232EDAR,RANBP2c.*29G>T (n.*29G>T)
c.8370+123832C>A (n.8370+123832C>A)
 gnomAD v4
2g.108896878C>TCA2660593234EDAR,RANBP2c.*29G>A (n.*29G>A)
c.8370+123832C>T (n.8370+123832C>T)
 gnomAD v4
2g.108896879C>ACA2660593235EDAR,RANBP2c.*28G>T (n.*28G>T)
c.8370+123833C>A (n.8370+123833C>A)
 gnomAD v4
2g.108896879C>TCA2660593238EDAR,RANBP2c.*28G>A (n.*28G>A)
c.8370+123833C>T (n.8370+123833C>T)
 gnomAD v4
2g.108896880T>CCA2660593239EDAR,RANBP2c.*27A>G (n.*27A>G)
c.8370+123834T>C (n.8370+123834T>C)
 gnomAD v4
2g.108896881G>ACA2660593247EDAR,RANBP2c.*26C>T (n.*26C>T)
c.8370+123835G>A (n.8370+123835G>A)
 gnomAD v4
2g.108896881G>CCA1824775EDAR,RANBP2c.*26C>G (n.*26C>G)
c.8370+123835G>C (n.8370+123835G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108896881G=CA1278354172EDAR,RANBP2c.*26C= (n.*26C=)
c.8370+123835G= (n.8370+123835G=)
2g.108896881G>TCA2577065488EDAR,RANBP2c.*26C>A (n.*26C>A)
c.8370+123835G>T (n.8370+123835G>T)
 gnomAD v4
2g.108896883delCA2660593243EDAR,RANBP2c.*26del (n.*26del)
c.8370+123837del (n.8370+123837del)
 gnomAD v4
2g.108896882G>ACA2603223506EDAR,RANBP2c.*25C>T (n.*25C>T)
c.8370+123836G>A (n.8370+123836G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.108896883G>ACA2660593252EDAR,RANBP2c.*24C>T (n.*24C>T)
c.8370+123837G>A (n.8370+123837G>A)
 gnomAD v4
2g.108896883G>CCA535593600EDAR,RANBP2c.*24C>G (n.*24C>G)
c.8370+123837G>C (n.8370+123837G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108896883G=CA1278354173EDAR,RANBP2c.*24C= (n.*24C=)
c.8370+123837G= (n.8370+123837G=)
2g.108896884A>GCA2660593257EDAR,RANBP2c.*23T>C (n.*23T>C)
c.8370+123838A>G (n.8370+123838A>G)
 gnomAD v4
2g.108896885G>TCA2660593260EDAR,RANBP2c.*22C>A (n.*22C>A)
c.8370+123839G>T (n.8370+123839G>T)
 gnomAD v4
2g.108896886G>ACA535593601EDAR,RANBP2c.*21C>T (n.*21C>T)
c.8370+123840G>A (n.8370+123840G>A)
 dbSNP gnomAD v2
2g.108896886G=CA1278354174EDAR,RANBP2c.*21C= (n.*21C=)
c.8370+123840G= (n.8370+123840G=)
2g.108896886G>TCA2660593261EDAR,RANBP2c.*21C>A (n.*21C>A)
c.8370+123840G>T (n.8370+123840G>T)
 gnomAD v4
2g.108896888C=CA1278354175EDAR,RANBP2c.*19G= (n.*19G=)
c.8370+123842C= (n.8370+123842C=)
2g.108896888C>GCA1278354176EDAR,RANBP2c.*19G>C (n.*19G>C)
c.8370+123842C>G (n.8370+123842C>G)
 dbSNP
2g.108896888C>TCA53464573EDAR,RANBP2c.*19G>A (n.*19G>A)
c.8370+123842C>T (n.8370+123842C>T)
 dbSNP gnomAD v4
2g.108896890G>ACA2519613081EDAR,RANBP2c.*17C>T (n.*17C>T)
c.8370+123844G>A (n.8370+123844G>A)
2g.108896890G>TCA2660593264EDAR,RANBP2c.*17C>A (n.*17C>A)
c.8370+123844G>T (n.8370+123844G>T)
 gnomAD v4
2g.108896891C>ACA2660593268EDAR,RANBP2c.*16G>T (n.*16G>T)
c.8370+123845C>A (n.8370+123845C>A)
 gnomAD v4
2g.108896891C=CA1278354177EDAR,RANBP2c.*16G= (n.*16G=)
c.8370+123845C= (n.8370+123845C=)
2g.108896891C>GCA1824776EDAR,RANBP2c.*16G>C (n.*16G>C)
c.8370+123845C>G (n.8370+123845C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896892C>ACA2660593270EDAR,RANBP2c.*15G>T (n.*15G>T)
c.8370+123846C>A (n.8370+123846C>A)
 gnomAD v4
2g.108896893C>TCA2660593306EDAR,RANBP2c.*14G>A (n.*14G>A)
c.8370+123847C>T (n.8370+123847C>T)
 gnomAD v4
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)
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)
2g.108896921G>ACA1824781EDAR,RANBP2c.1333C>T (p.His445Tyr)
c.1429C>T (p.His477Tyr)
c.1480C>T (p.His494Tyr)
c.1384C>T (p.His462Tyr)
c.760C>T (p.His254Tyr)
c.1573C>T (p.His525Tyr)
c.1477C>T (p.His493Tyr)
c.8370+123875G>A (n.8370+123875G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896921G>CCA348047447EDAR,RANBP2c.1333C>G (p.His445Asp)
c.1429C>G (p.His477Asp)
c.1480C>G (p.His494Asp)
c.1384C>G (p.His462Asp)
c.760C>G (p.His254Asp)
c.1573C>G (p.His525Asp)
c.1477C>G (p.His493Asp)
c.8370+123875G>C (n.8370+123875G>C)
2g.108896921G=CA1278354194EDAR,RANBP2c.1333C= (p.His445=)
c.1429C= (p.His477=)
c.1480C= (p.His494=)
c.1384C= (p.His462=)
c.760C= (p.His254=)
c.1573C= (p.His525=)
c.1477C= (p.His493=)
c.8370+123875G= (n.8370+123875G=)
2g.108896921G>TCA348047449EDAR,RANBP2c.1333C>A (p.His445Asn)
c.1429C>A (p.His477Asn)
c.1480C>A (p.His494Asn)
c.1384C>A (p.His462Asn)
c.760C>A (p.His254Asn)
c.1573C>A (p.His525Asn)
c.1477C>A (p.His493Asn)
c.8370+123875G>T (n.8370+123875G>T)
2g.108896922T>ACA428203867EDAR,RANBP2c.1332A>T (p.Pro444=)
c.1428A>T (p.Pro476=)
c.1479A>T (p.Pro493=)
c.1383A>T (p.Pro461=)
c.759A>T (p.Pro253=)
c.1572A>T (p.Pro524=)
c.1476A>T (p.Pro492=)
c.8370+123876T>A (n.8370+123876T>A)
2g.108896922T>CCA428203868EDAR,RANBP2c.1332A>G (p.Pro444=)
c.1428A>G (p.Pro476=)
c.1479A>G (p.Pro493=)
c.1383A>G (p.Pro461=)
c.759A>G (p.Pro253=)
c.1572A>G (p.Pro524=)
c.1476A>G (p.Pro492=)
c.8370+123876T>C (n.8370+123876T>C)
2g.108896922T>GCA428203869EDAR,RANBP2c.1332A>C (p.Pro444=)
c.1428A>C (p.Pro476=)
c.1479A>C (p.Pro493=)
c.1383A>C (p.Pro461=)
c.759A>C (p.Pro253=)
c.1572A>C (p.Pro524=)
c.1476A>C (p.Pro492=)
c.8370+123876T>G (n.8370+123876T>G)
2g.108896923G>ACA1824782EDAR,RANBP2c.1331C>T (p.Pro444Leu)
c.1427C>T (p.Pro476Leu)
c.1478C>T (p.Pro493Leu)
c.1382C>T (p.Pro461Leu)
c.758C>T (p.Pro253Leu)
c.1571C>T (p.Pro524Leu)
c.1475C>T (p.Pro492Leu)
c.8370+123877G>A (n.8370+123877G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108896923G>CCA348047451EDAR,RANBP2c.1331C>G (p.Pro444Arg)
c.1427C>G (p.Pro476Arg)
c.1478C>G (p.Pro493Arg)
c.1382C>G (p.Pro461Arg)
c.758C>G (p.Pro253Arg)
c.1571C>G (p.Pro524Arg)
c.1475C>G (p.Pro492Arg)
c.8370+123877G>C (n.8370+123877G>C)
2g.108896923G=CA1278354195EDAR,RANBP2c.1331C= (p.Pro444=)
c.1427C= (p.Pro476=)
c.1478C= (p.Pro493=)
c.1382C= (p.Pro461=)
c.758C= (p.Pro253=)
c.1571C= (p.Pro524=)
c.1475C= (p.Pro492=)
c.8370+123877G= (n.8370+123877G=)
2g.108896923G>TCA348047453EDAR,RANBP2c.1331C>A (p.Pro444Gln)
c.1427C>A (p.Pro476Gln)
c.1478C>A (p.Pro493Gln)
c.1382C>A (p.Pro461Gln)
c.758C>A (p.Pro253Gln)
c.1571C>A (p.Pro524Gln)
c.1475C>A (p.Pro492Gln)
c.8370+123877G>T (n.8370+123877G>T)
2g.108896924G>ACA348047456EDAR,RANBP2c.1330C>T (p.Pro444Ser)
c.1426C>T (p.Pro476Ser)
c.1477C>T (p.Pro493Ser)
c.1381C>T (p.Pro461Ser)
c.757C>T (p.Pro253Ser)
c.1570C>T (p.Pro524Ser)
c.1474C>T (p.Pro492Ser)
c.8370+123878G>A (n.8370+123878G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108896924G>CCA348047458EDAR,RANBP2c.1330C>G (p.Pro444Ala)
c.1426C>G (p.Pro476Ala)
c.1477C>G (p.Pro493Ala)
c.1381C>G (p.Pro461Ala)
c.757C>G (p.Pro253Ala)
c.1570C>G (p.Pro524Ala)
c.1474C>G (p.Pro492Ala)
c.8370+123878G>C (n.8370+123878G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108896924G=CA1278354196EDAR,RANBP2c.1330C= (p.Pro444=)
c.1426C= (p.Pro476=)
c.1477C= (p.Pro493=)
c.1381C= (p.Pro461=)
c.757C= (p.Pro253=)
c.1570C= (p.Pro524=)
c.1474C= (p.Pro492=)
c.8370+123878G= (n.8370+123878G=)
2g.108896924G>TCA348047460EDAR,RANBP2c.1330C>A (p.Pro444Thr)
c.1426C>A (p.Pro476Thr)
c.1477C>A (p.Pro493Thr)
c.1381C>A (p.Pro461Thr)
c.757C>A (p.Pro253Thr)
c.1570C>A (p.Pro524Thr)
c.1474C>A (p.Pro492Thr)
c.8370+123878G>T (n.8370+123878G>T)
 dbSNP gnomAD v4
2g.108896925C>ACA348047461EDAR,RANBP2c.1329G>T (p.Gln443His)
c.1425G>T (p.Gln475His)
c.1476G>T (p.Gln492His)
c.1380G>T (p.Gln460His)
c.756G>T (p.Gln252His)
c.1569G>T (p.Gln523His)
c.1473G>T (p.Gln491His)
c.8370+123879C>A (n.8370+123879C>A)
2g.108896925C>GCA348047462EDAR,RANBP2c.1329G>C (p.Gln443His)
c.1425G>C (p.Gln475His)
c.1476G>C (p.Gln492His)
c.1380G>C (p.Gln460His)
c.756G>C (p.Gln252His)
c.1569G>C (p.Gln523His)
c.1473G>C (p.Gln491His)
c.8370+123879C>G (n.8370+123879C>G)
2g.108896925C>TCA428203870EDAR,RANBP2c.1329G>A (p.Gln443=)
c.1425G>A (p.Gln475=)
c.1476G>A (p.Gln492=)
c.1380G>A (p.Gln460=)
c.756G>A (p.Gln252=)
c.1569G>A (p.Gln523=)
c.1473G>A (p.Gln491=)
c.8370+123879C>T (n.8370+123879C>T)
2g.108896926T>ACA348047466EDAR,RANBP2c.1328A>T (p.Gln443Leu)
c.1424A>T (p.Gln475Leu)
c.1475A>T (p.Gln492Leu)
c.1379A>T (p.Gln460Leu)
c.755A>T (p.Gln252Leu)
c.1568A>T (p.Gln523Leu)
c.1472A>T (p.Gln491Leu)
c.8370+123880T>A (n.8370+123880T>A)
2g.108896926T>CCA348047465EDAR,RANBP2c.1328A>G (p.Gln443Arg)
c.1424A>G (p.Gln475Arg)
c.1475A>G (p.Gln492Arg)
c.1379A>G (p.Gln460Arg)
c.755A>G (p.Gln252Arg)
c.1568A>G (p.Gln523Arg)
c.1472A>G (p.Gln491Arg)
c.8370+123880T>C (n.8370+123880T>C)
2g.108896926T>GCA348047463EDAR,RANBP2c.1328A>C (p.Gln443Pro)
c.1424A>C (p.Gln475Pro)
c.1475A>C (p.Gln492Pro)
c.1379A>C (p.Gln460Pro)
c.755A>C (p.Gln252Pro)
c.1568A>C (p.Gln523Pro)
c.1472A>C (p.Gln491Pro)
c.8370+123880T>G (n.8370+123880T>G)
2g.108896927G>ACA348047468EDAR,RANBP2c.1327C>T (p.Gln443Ter)
c.1423C>T (p.Gln475Ter)
c.1474C>T (p.Gln492Ter)
c.1378C>T (p.Gln460Ter)
c.754C>T (p.Gln252Ter)
c.1567C>T (p.Gln523Ter)
c.1471C>T (p.Gln491Ter)
c.8370+123881G>A (n.8370+123881G>A)
 COSMIC COSMIC
2g.108896927G>CCA348047470EDAR,RANBP2c.1327C>G (p.Gln443Glu)
c.1423C>G (p.Gln475Glu)
c.1474C>G (p.Gln492Glu)
c.1378C>G (p.Gln460Glu)
c.754C>G (p.Gln252Glu)
c.1567C>G (p.Gln523Glu)
c.1471C>G (p.Gln491Glu)
c.8370+123881G>C (n.8370+123881G>C)
2g.108896927G>TCA348047471EDAR,RANBP2c.1327C>A (p.Gln443Lys)
c.1423C>A (p.Gln475Lys)
c.1474C>A (p.Gln492Lys)
c.1378C>A (p.Gln460Lys)
c.754C>A (p.Gln252Lys)
c.1567C>A (p.Gln523Lys)
c.1471C>A (p.Gln491Lys)
c.8370+123881G>T (n.8370+123881G>T)
2g.108896928G>ACA53464624EDAR,RANBP2c.1326C>T (p.Ser442=)
c.1422C>T (p.Ser474=)
c.1473C>T (p.Ser491=)
c.1377C>T (p.Ser459=)
c.753C>T (p.Ser251=)
c.1566C>T (p.Ser522=)
c.1470C>T (p.Ser490=)
c.8370+123882G>A (n.8370+123882G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108896928G>CCA428203871EDAR,RANBP2c.1326C>G (p.Ser442=)
c.1422C>G (p.Ser474=)
c.1473C>G (p.Ser491=)
c.1377C>G (p.Ser459=)
c.753C>G (p.Ser251=)
c.1566C>G (p.Ser522=)
c.1470C>G (p.Ser490=)
c.8370+123882G>C (n.8370+123882G>C)
2g.108896928G=CA1278354197EDAR,RANBP2c.1326C= (p.Ser442=)
c.1422C= (p.Ser474=)
c.1473C= (p.Ser491=)
c.1377C= (p.Ser459=)
c.753C= (p.Ser251=)
c.1566C= (p.Ser522=)
c.1470C= (p.Ser490=)
c.8370+123882G= (n.8370+123882G=)
2g.108896928G>TCA428203872EDAR,RANBP2c.1326C>A (p.Ser442=)
c.1422C>A (p.Ser474=)
c.1473C>A (p.Ser491=)
c.1377C>A (p.Ser459=)
c.753C>A (p.Ser251=)
c.1566C>A (p.Ser522=)
c.1470C>A (p.Ser490=)
c.8370+123882G>T (n.8370+123882G>T)
2g.108896929G>ACA348047474EDAR,RANBP2c.1325C>T (p.Ser442Phe)
c.1421C>T (p.Ser474Phe)
c.1472C>T (p.Ser491Phe)
c.1376C>T (p.Ser459Phe)
c.752C>T (p.Ser251Phe)
c.1565C>T (p.Ser522Phe)
c.1469C>T (p.Ser490Phe)
c.8370+123883G>A (n.8370+123883G>A)
2g.108896929G>CCA348047475EDAR,RANBP2c.1325C>G (p.Ser442Cys)
c.1421C>G (p.Ser474Cys)
c.1472C>G (p.Ser491Cys)
c.1376C>G (p.Ser459Cys)
c.752C>G (p.Ser251Cys)
c.1565C>G (p.Ser522Cys)
c.1469C>G (p.Ser490Cys)
c.8370+123883G>C (n.8370+123883G>C)
2g.108896929G>TCA348047478EDAR,RANBP2c.1325C>A (p.Ser442Tyr)
c.1421C>A (p.Ser474Tyr)
c.1472C>A (p.Ser491Tyr)
c.1376C>A (p.Ser459Tyr)
c.752C>A (p.Ser251Tyr)
c.1565C>A (p.Ser522Tyr)
c.1469C>A (p.Ser490Tyr)
c.8370+123883G>T (n.8370+123883G>T)

Number of alleles fetched