Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.121854779T>ACA358066039BBS7c.643A>T (p.Lys215Ter)
c.646A>T (p.Lys216Ter)
c.691A>T (p.Lys231Ter)
c.688A>T (p.Lys230Ter)
4g.121854779T>CCA358066042BBS7c.643A>G (p.Lys215Glu)
c.646A>G (p.Lys216Glu)
c.691A>G (p.Lys231Glu)
c.688A>G (p.Lys230Glu)
4g.121854779T>GCA358066044BBS7c.643A>C (p.Lys215Gln)
c.646A>C (p.Lys216Gln)
c.691A>C (p.Lys231Gln)
c.688A>C (p.Lys230Gln)
4g.121854780T>ACA440922814BBS7c.642A>T (p.Gly214=)
c.645A>T (p.Gly215=)
c.690A>T (p.Gly230=)
c.687A>T (p.Gly229=)
4g.121854780T>CCA440922815BBS7c.642A>G (p.Gly214=)
c.645A>G (p.Gly215=)
c.690A>G (p.Gly230=)
c.687A>G (p.Gly229=)
4g.121854780T>GCA440922816BBS7c.642A>C (p.Gly214=)
c.645A>C (p.Gly215=)
c.690A>C (p.Gly230=)
c.687A>C (p.Gly229=)
4g.121854781C>ACA358066046BBS7c.641G>T (p.Gly214Val)
c.644G>T (p.Gly215Val)
c.689G>T (p.Gly230Val)
c.686G>T (p.Gly229Val)
4g.121854781C>GCA358066050BBS7c.641G>C (p.Gly214Ala)
c.644G>C (p.Gly215Ala)
c.689G>C (p.Gly230Ala)
c.686G>C (p.Gly229Ala)
4g.121854781C>TCA358066053BBS7c.641G>A (p.Gly214Glu)
c.644G>A (p.Gly215Glu)
c.689G>A (p.Gly230Glu)
c.686G>A (p.Gly229Glu)
4g.121854782C>ACA358066056BBS7c.640G>T (p.Gly214Ter)
c.643G>T (p.Gly215Ter)
c.688G>T (p.Gly230Ter)
c.685G>T (p.Gly229Ter)
4g.121854782C=CA1490025996BBS7c.640G= (p.Gly214=)
c.643G= (p.Gly215=)
c.688G= (p.Gly230=)
c.685G= (p.Gly229=)
4g.121854782C>GCA358066059BBS7c.640G>C (p.Gly214Arg)
c.643G>C (p.Gly215Arg)
c.688G>C (p.Gly230Arg)
c.685G>C (p.Gly229Arg)
 ClinVar
4g.121854782C>TCA358066067BBS7c.640G>A (p.Gly214Arg)
c.643G>A (p.Gly215Arg)
c.688G>A (p.Gly230Arg)
c.685G>A (p.Gly229Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854783G>ACA3064446BBS7c.639C>T (p.Asp213=)
c.642C>T (p.Asp214=)
c.687C>T (p.Asp229=)
c.684C>T (p.Asp228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854783G>CCA358066074BBS7c.639C>G (p.Asp213Glu)
c.642C>G (p.Asp214Glu)
c.687C>G (p.Asp229Glu)
c.684C>G (p.Asp228Glu)
4g.121854783G=CA1490025997BBS7c.639C= (p.Asp213=)
c.642C= (p.Asp214=)
c.687C= (p.Asp229=)
c.684C= (p.Asp228=)
4g.121854783G>TCA358066077BBS7c.639C>A (p.Asp213Glu)
c.642C>A (p.Asp214Glu)
c.687C>A (p.Asp229Glu)
c.684C>A (p.Asp228Glu)
4g.121854784T>ACA358066088BBS7c.638A>T (p.Asp213Val)
c.641A>T (p.Asp214Val)
c.686A>T (p.Asp229Val)
c.683A>T (p.Asp228Val)
4g.121854784T>CCA358066086BBS7c.638A>G (p.Asp213Gly)
c.641A>G (p.Asp214Gly)
c.686A>G (p.Asp229Gly)
c.683A>G (p.Asp228Gly)
 gnomAD v4
4g.121854784T>GCA358066085BBS7c.638A>C (p.Asp213Ala)
c.641A>C (p.Asp214Ala)
c.686A>C (p.Asp229Ala)
c.683A>C (p.Asp228Ala)
4g.121854785C>ACA358066090BBS7c.637G>T (p.Asp213Tyr)
c.640G>T (p.Asp214Tyr)
c.685G>T (p.Asp229Tyr)
c.682G>T (p.Asp228Tyr)
4g.121854785C>GCA358066093BBS7c.637G>C (p.Asp213His)
c.640G>C (p.Asp214His)
c.685G>C (p.Asp229His)
c.682G>C (p.Asp228His)
4g.121854785C>TCA358066096BBS7c.637G>A (p.Asp213Asn)
c.640G>A (p.Asp214Asn)
c.685G>A (p.Asp229Asn)
c.682G>A (p.Asp228Asn)
 gnomAD v4
4g.121854786T>ACA440922817BBS7c.636A>T (p.Ser212=)
c.639A>T (p.Ser213=)
c.684A>T (p.Ser228=)
c.681A>T (p.Ser227=)
 gnomAD v4
4g.121854786T>CCA440922818BBS7c.636A>G (p.Ser212=)
c.639A>G (p.Ser213=)
c.684A>G (p.Ser228=)
c.681A>G (p.Ser227=)
4g.121854786T>GCA440922819BBS7c.636A>C (p.Ser212=)
c.639A>C (p.Ser213=)
c.684A>C (p.Ser228=)
c.681A>C (p.Ser227=)
4g.121854787G>ACA358066099BBS7c.635C>T (p.Ser212Leu)
c.638C>T (p.Ser213Leu)
c.683C>T (p.Ser228Leu)
c.680C>T (p.Ser227Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854787G>CCA3064447BBS7c.635C>G (p.Ser212Ter)
c.638C>G (p.Ser213Ter)
c.683C>G (p.Ser228Ter)
c.680C>G (p.Ser227Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854787G=CA1490025998BBS7c.635C= (p.Ser212=)
c.638C= (p.Ser213=)
c.683C= (p.Ser228=)
c.680C= (p.Ser227=)
4g.121854787G>TCA358066103BBS7c.635C>A (p.Ser212Ter)
c.638C>A (p.Ser213Ter)
c.683C>A (p.Ser228Ter)
c.680C>A (p.Ser227Ter)
4g.121854788A>CCA358066106BBS7c.634T>G (p.Ser212Ala)
c.637T>G (p.Ser213Ala)
c.682T>G (p.Ser228Ala)
c.679T>G (p.Ser227Ala)
4g.121854788A>GCA358066109BBS7c.634T>C (p.Ser212Pro)
c.637T>C (p.Ser213Pro)
c.682T>C (p.Ser228Pro)
c.679T>C (p.Ser227Pro)
4g.121854788A>TCA358066112BBS7c.634T>A (p.Ser212Thr)
c.637T>A (p.Ser213Thr)
c.682T>A (p.Ser228Thr)
c.679T>A (p.Ser227Thr)
4g.121854789T>ACA440922820BBS7c.633A>T (p.Thr211=)
c.636A>T (p.Thr212=)
c.681A>T (p.Thr227=)
c.678A>T (p.Thr226=)
4g.121854789T>CCA440922821BBS7c.633A>G (p.Thr211=)
c.636A>G (p.Thr212=)
c.681A>G (p.Thr227=)
c.678A>G (p.Thr226=)
 ClinVar dbSNP gnomAD v4
4g.121854789T>GCA440922822BBS7c.633A>C (p.Thr211=)
c.636A>C (p.Thr212=)
c.681A>C (p.Thr227=)
c.678A>C (p.Thr226=)
4g.121854789T=CA1490025999BBS7c.633A= (p.Thr211=)
c.636A= (p.Thr212=)
c.681A= (p.Thr227=)
c.678A= (p.Thr226=)
4g.121854790G>ACA252534BBS7c.632C>T (p.Thr211Ile)
c.635C>T (p.Thr212Ile)
c.680C>T (p.Thr227Ile)
c.677C>T (p.Thr226Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854790G>CCA358066119BBS7c.632C>G (p.Thr211Arg)
c.635C>G (p.Thr212Arg)
c.680C>G (p.Thr227Arg)
c.677C>G (p.Thr226Arg)
 ClinVar dbSNP
4g.121854790G=CA1490026000BBS7c.632C= (p.Thr211=)
c.635C= (p.Thr212=)
c.680C= (p.Thr227=)
c.677C= (p.Thr226=)
4g.121854790G>TCA358066122BBS7c.632C>A (p.Thr211Lys)
c.635C>A (p.Thr212Lys)
c.680C>A (p.Thr227Lys)
c.677C>A (p.Thr226Lys)
4g.121854791T>ACA358066126BBS7c.631A>T (p.Thr211Ser)
c.634A>T (p.Thr212Ser)
c.679A>T (p.Thr227Ser)
c.676A>T (p.Thr226Ser)
 gnomAD v4
4g.121854791T>CCA358066130BBS7c.631A>G (p.Thr211Ala)
c.634A>G (p.Thr212Ala)
c.679A>G (p.Thr227Ala)
c.676A>G (p.Thr226Ala)
 dbSNP gnomAD v4
4g.121854791T>GCA358066125BBS7c.631A>C (p.Thr211Pro)
c.634A>C (p.Thr212Pro)
c.679A>C (p.Thr227Pro)
c.676A>C (p.Thr226Pro)
4g.121854791T=CA1490026001BBS7c.631A= (p.Thr211=)
c.634A= (p.Thr212=)
c.679A= (p.Thr227=)
c.676A= (p.Thr226=)
4g.121854792C>ACA440922825BBS7c.630G>T (p.Gly210=)
c.633G>T (p.Gly211=)
c.678G>T (p.Gly226=)
c.675G>T (p.Gly225=)
4g.121854792C>GCA440922824BBS7c.630G>C (p.Gly210=)
c.633G>C (p.Gly211=)
c.678G>C (p.Gly226=)
c.675G>C (p.Gly225=)
4g.121854792C>TCA440922823BBS7c.630G>A (p.Gly210=)
c.633G>A (p.Gly211=)
c.678G>A (p.Gly226=)
c.675G>A (p.Gly225=)
 gnomAD v4
4g.121854793C>ACA358066133BBS7c.629G>T (p.Gly210Val)
c.632G>T (p.Gly211Val)
c.677G>T (p.Gly226Val)
c.674G>T (p.Gly225Val)
4g.121854793C>GCA358066136BBS7c.629G>C (p.Gly210Ala)
c.632G>C (p.Gly211Ala)
c.677G>C (p.Gly226Ala)
c.674G>C (p.Gly225Ala)
4g.121854793C>TCA358066139BBS7c.629G>A (p.Gly210Glu)
c.632G>A (p.Gly211Glu)
c.677G>A (p.Gly226Glu)
c.674G>A (p.Gly225Glu)
 gnomAD v4
4g.121854794C>ACA358066141BBS7c.628G>T (p.Gly210Trp)
c.631G>T (p.Gly211Trp)
c.676G>T (p.Gly226Trp)
c.673G>T (p.Gly225Trp)
4g.121854794C>GCA358066142BBS7c.628G>C (p.Gly210Arg)
c.631G>C (p.Gly211Arg)
c.676G>C (p.Gly226Arg)
c.673G>C (p.Gly225Arg)
4g.121854794C>TCA358066143BBS7c.628G>A (p.Gly210Arg)
c.631G>A (p.Gly211Arg)
c.676G>A (p.Gly226Arg)
c.673G>A (p.Gly225Arg)
4g.121854795A>CCA358066144BBS7c.627T>G (p.Phe209Leu)
c.630T>G (p.Phe210Leu)
c.675T>G (p.Phe225Leu)
c.672T>G (p.Phe224Leu)
4g.121854795A>GCA440922826BBS7c.627T>C (p.Phe209=)
c.630T>C (p.Phe210=)
c.675T>C (p.Phe225=)
c.672T>C (p.Phe224=)
 ClinVar dbSNP gnomAD v4
4g.121854795A>TCA358066145BBS7c.627T>A (p.Phe209Leu)
c.630T>A (p.Phe210Leu)
c.675T>A (p.Phe225Leu)
c.672T>A (p.Phe224Leu)
4g.121854796A=CA1490026002BBS7c.626T= (p.Phe209=)
c.629T= (p.Phe210=)
c.674T= (p.Phe225=)
c.671T= (p.Phe224=)
4g.121854796A>CCA358066146BBS7c.626T>G (p.Phe209Cys)
c.629T>G (p.Phe210Cys)
c.674T>G (p.Phe225Cys)
c.671T>G (p.Phe224Cys)
4g.121854796A>GCA358066147BBS7c.626T>C (p.Phe209Ser)
c.629T>C (p.Phe210Ser)
c.674T>C (p.Phe225Ser)
c.671T>C (p.Phe224Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.121854796A>TCA358066148BBS7c.626T>A (p.Phe209Tyr)
c.629T>A (p.Phe210Tyr)
c.674T>A (p.Phe225Tyr)
c.671T>A (p.Phe224Tyr)
4g.121854797A>CCA358066151BBS7c.625T>G (p.Phe209Val)
c.628T>G (p.Phe210Val)
c.673T>G (p.Phe225Val)
c.670T>G (p.Phe224Val)
4g.121854797A>GCA358066152BBS7c.625T>C (p.Phe209Leu)
c.628T>C (p.Phe210Leu)
c.673T>C (p.Phe225Leu)
c.670T>C (p.Phe224Leu)
4g.121854797A>TCA358066156BBS7c.625T>A (p.Phe209Ile)
c.628T>A (p.Phe210Ile)
c.673T>A (p.Phe225Ile)
c.670T>A (p.Phe224Ile)
4g.121854798C>ACA104766712BBS7c.624G>T (p.Leu208Phe)
c.627G>T (p.Leu209Phe)
c.672G>T (p.Leu224Phe)
c.669G>T (p.Leu223Phe)
 dbSNP
4g.121854798C=CA1490026003BBS7c.624G= (p.Leu208=)
c.627G= (p.Leu209=)
c.672G= (p.Leu224=)
c.669G= (p.Leu223=)
4g.121854798C>GCA358066159BBS7c.624G>C (p.Leu208Phe)
c.627G>C (p.Leu209Phe)
c.672G>C (p.Leu224Phe)
c.669G>C (p.Leu223Phe)
4g.121854798C>TCA440922827BBS7c.624G>A (p.Leu208=)
c.627G>A (p.Leu209=)
c.672G>A (p.Leu224=)
c.669G>A (p.Leu223=)
4g.121854799A=CA1490026004BBS7c.623T= (p.Leu208=)
c.626T= (p.Leu209=)
c.671T= (p.Leu224=)
c.668T= (p.Leu223=)
4g.121854799A>CCA3064448BBS7c.623T>G (p.Leu208Trp)
c.626T>G (p.Leu209Trp)
c.671T>G (p.Leu224Trp)
c.668T>G (p.Leu223Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854799A>GCA358066165BBS7c.623T>C (p.Leu208Ser)
c.626T>C (p.Leu209Ser)
c.671T>C (p.Leu224Ser)
c.668T>C (p.Leu223Ser)
 gnomAD v4
4g.121854799A>TCA358066166BBS7c.623T>A (p.Leu208Ter)
c.626T>A (p.Leu209Ter)
c.671T>A (p.Leu224Ter)
c.668T>A (p.Leu223Ter)
4g.121854799_121854800insCACCCA2763339217BBS7c.622_623insGGTG (p.Leu208TrpfsTer29)
c.625_626insGGTG (p.Leu209TrpfsTer29)
c.670_671insGGTG (p.Leu224TrpfsTer29)
c.667_668insGGTG (p.Leu223TrpfsTer29)
4g.121854799_121854800insCACCCAACACCA2763339218BBS7c.622_623insGTGTTGGGTG (p.Leu208CysfsTer31)
c.625_626insGTGTTGGGTG (p.Leu209CysfsTer31)
c.670_671insGTGTTGGGTG (p.Leu224CysfsTer31)
c.667_668insGTGTTGGGTG (p.Leu223CysfsTer31)
4g.121854800A>CCA358066168BBS7c.622T>G (p.Leu208Val)
c.625T>G (p.Leu209Val)
c.670T>G (p.Leu224Val)
c.667T>G (p.Leu223Val)
4g.121854800A>GCA440922828BBS7c.622T>C (p.Leu208=)
c.625T>C (p.Leu209=)
c.670T>C (p.Leu224=)
c.667T>C (p.Leu223=)
4g.121854800A>TCA358066171BBS7c.622T>A (p.Leu208Met)
c.625T>A (p.Leu209Met)
c.670T>A (p.Leu224Met)
c.667T>A (p.Leu223Met)
4g.121854801A>CCA440922829BBS7c.621T>G (p.Leu207=)
c.624T>G (p.Leu208=)
c.669T>G (p.Leu223=)
c.666T>G (p.Leu222=)
4g.121854801A>GCA440922830BBS7c.621T>C (p.Leu207=)
c.624T>C (p.Leu208=)
c.669T>C (p.Leu223=)
c.666T>C (p.Leu222=)
 gnomAD v4
4g.121854801A>TCA440922831BBS7c.621T>A (p.Leu207=)
c.624T>A (p.Leu208=)
c.669T>A (p.Leu223=)
c.666T>A (p.Leu222=)
4g.121854802A>CCA358066172BBS7c.620T>G (p.Leu207Arg)
c.623T>G (p.Leu208Arg)
c.668T>G (p.Leu223Arg)
c.665T>G (p.Leu222Arg)
4g.121854802A>GCA358066174BBS7c.620T>C (p.Leu207Pro)
c.623T>C (p.Leu208Pro)
c.668T>C (p.Leu223Pro)
c.665T>C (p.Leu222Pro)
4g.121854802A>TCA358066175BBS7c.620T>A (p.Leu207His)
c.623T>A (p.Leu208His)
c.668T>A (p.Leu223His)
c.665T>A (p.Leu222His)
4g.121854802_121854803delinsAGCA1490026005BBS7c.619_620delinsCT (p.Leu207=)
c.622_623delinsCT (p.Leu208=)
c.667_668delinsCT (p.Leu223=)
c.664_665delinsCT (p.Leu222=)
4g.121854803G>ACA3064449BBS7c.619C>T (p.Leu207Phe)
c.622C>T (p.Leu208Phe)
c.667C>T (p.Leu223Phe)
c.664C>T (p.Leu222Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854803G>CCA358066178BBS7c.619C>G (p.Leu207Val)
c.622C>G (p.Leu208Val)
c.667C>G (p.Leu223Val)
c.664C>G (p.Leu222Val)
 gnomAD v4
4g.121854803G=CA1490026007BBS7c.619C= (p.Leu207=)
c.622C= (p.Leu208=)
c.667C= (p.Leu223=)
c.664C= (p.Leu222=)
4g.121854803G>TCA358066183BBS7c.619C>A (p.Leu207Ile)
c.622C>A (p.Leu208Ile)
c.667C>A (p.Leu223Ile)
c.664C>A (p.Leu222Ile)
4g.121854804delCA1490026006BBS7c.619del (p.Leu207PhefsTer?)
c.622del (p.Leu208PhefsTer?)
c.667del (p.Leu223PhefsTer?)
c.664del (p.Leu222PhefsTer?)
4g.121854804G>ACA440922832BBS7c.618C>T (p.Asp206=)
c.621C>T (p.Asp207=)
c.666C>T (p.Asp222=)
c.663C>T (p.Asp221=)
 ClinVar dbSNP gnomAD v4
4g.121854804G>CCA358066190BBS7c.618C>G (p.Asp206Glu)
c.621C>G (p.Asp207Glu)
c.666C>G (p.Asp222Glu)
c.663C>G (p.Asp221Glu)
4g.121854804G=CA1490026008BBS7c.618C= (p.Asp206=)
c.621C= (p.Asp207=)
c.666C= (p.Asp222=)
c.663C= (p.Asp221=)
4g.121854804G>TCA358066193BBS7c.618C>A (p.Asp206Glu)
c.621C>A (p.Asp207Glu)
c.666C>A (p.Asp222Glu)
c.663C>A (p.Asp221Glu)
4g.121854805T>ACA358066200BBS7c.617A>T (p.Asp206Val)
c.620A>T (p.Asp207Val)
c.665A>T (p.Asp222Val)
c.662A>T (p.Asp221Val)
4g.121854805T>CCA358066197BBS7c.617A>G (p.Asp206Gly)
c.620A>G (p.Asp207Gly)
c.665A>G (p.Asp222Gly)
c.662A>G (p.Asp221Gly)
4g.121854805T>GCA3064450BBS7c.617A>C (p.Asp206Ala)
c.620A>C (p.Asp207Ala)
c.665A>C (p.Asp222Ala)
c.662A>C (p.Asp221Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854805T=CA1490026009BBS7c.617A= (p.Asp206=)
c.620A= (p.Asp207=)
c.665A= (p.Asp222=)
c.662A= (p.Asp221=)
4g.121854806C>ACA358066204BBS7c.616G>T (p.Asp206Tyr)
c.619G>T (p.Asp207Tyr)
c.664G>T (p.Asp222Tyr)
c.661G>T (p.Asp221Tyr)
 gnomAD v4
4g.121854806C>GCA358066206BBS7c.616G>C (p.Asp206His)
c.619G>C (p.Asp207His)
c.664G>C (p.Asp222His)
c.661G>C (p.Asp221His)
4g.121854806C>TCA358066209BBS7c.616G>A (p.Asp206Asn)
c.619G>A (p.Asp207Asn)
c.664G>A (p.Asp222Asn)
c.661G>A (p.Asp221Asn)
4g.121854807T>ACA358066211BBS7c.615A>T (p.Glu205Asp)
c.618A>T (p.Glu206Asp)
c.663A>T (p.Glu221Asp)
c.660A>T (p.Glu220Asp)
4g.121854807T>CCA440922833BBS7c.615A>G (p.Glu205=)
c.618A>G (p.Glu206=)
c.663A>G (p.Glu221=)
c.660A>G (p.Glu220=)
4g.121854807T>GCA358066219BBS7c.615A>C (p.Glu205Asp)
c.618A>C (p.Glu206Asp)
c.663A>C (p.Glu221Asp)
c.660A>C (p.Glu220Asp)
4g.121854807_121854809delinsTTCCA1490026010BBS7c.613_615delinsGAA (p.Glu205=)
c.616_618delinsGAA (p.Glu206=)
c.661_663delinsGAA (p.Glu221=)
c.658_660delinsGAA (p.Glu220=)
4g.121854808T>ACA358066222BBS7c.614A>T (p.Glu205Val)
c.617A>T (p.Glu206Val)
c.662A>T (p.Glu221Val)
c.659A>T (p.Glu220Val)
4g.121854808T>CCA358066226BBS7c.614A>G (p.Glu205Gly)
c.617A>G (p.Glu206Gly)
c.662A>G (p.Glu221Gly)
c.659A>G (p.Glu220Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854808T>GCA358066229BBS7c.614A>C (p.Glu205Ala)
c.617A>C (p.Glu206Ala)
c.662A>C (p.Glu221Ala)
c.659A>C (p.Glu220Ala)
4g.121854808T=CA1490026011BBS7c.614A= (p.Glu205=)
c.617A= (p.Glu206=)
c.662A= (p.Glu221=)
c.659A= (p.Glu220=)
4g.121854810_121854811delCA554188417BBS7c.613_614del (p.Glu205ArgfsTer30)
c.616_617del (p.Glu206ArgfsTer30)
c.661_662del (p.Glu221ArgfsTer30)
c.658_659del (p.Glu220ArgfsTer30)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.121854809C>ACA358066233BBS7c.613G>T (p.Glu205Ter)
c.616G>T (p.Glu206Ter)
c.661G>T (p.Glu221Ter)
c.658G>T (p.Glu220Ter)
4g.121854809C>GCA358066234BBS7c.613G>C (p.Glu205Gln)
c.616G>C (p.Glu206Gln)
c.661G>C (p.Glu221Gln)
c.658G>C (p.Glu220Gln)
4g.121854809C>TCA358066238BBS7c.613G>A (p.Glu205Lys)
c.616G>A (p.Glu206Lys)
c.661G>A (p.Glu221Lys)
c.658G>A (p.Glu220Lys)
4g.121854810T>ACA440922834BBS7c.612A>T (p.Gly204=)
c.615A>T (p.Gly205=)
c.660A>T (p.Gly220=)
c.657A>T (p.Gly219=)
4g.121854810T>CCA440922835BBS7c.612A>G (p.Gly204=)
c.615A>G (p.Gly205=)
c.660A>G (p.Gly220=)
c.657A>G (p.Gly219=)
4g.121854810T>GCA440922836BBS7c.612A>C (p.Gly204=)
c.615A>C (p.Gly205=)
c.660A>C (p.Gly220=)
c.657A>C (p.Gly219=)
4g.121854811C>ACA358066243BBS7c.611G>T (p.Gly204Val)
c.614G>T (p.Gly205Val)
c.659G>T (p.Gly220Val)
c.656G>T (p.Gly219Val)
4g.121854811C=CA1490026012BBS7c.611G= (p.Gly204=)
c.614G= (p.Gly205=)
c.659G= (p.Gly220=)
c.656G= (p.Gly219=)
4g.121854811C>GCA358066244BBS7c.611G>C (p.Gly204Ala)
c.614G>C (p.Gly205Ala)
c.659G>C (p.Gly220Ala)
c.656G>C (p.Gly219Ala)
 COSMIC
4g.121854811C>TCA3064451BBS7c.611G>A (p.Gly204Glu)
c.614G>A (p.Gly205Glu)
c.659G>A (p.Gly220Glu)
c.656G>A (p.Gly219Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854812C>ACA358066246BBS7c.610G>T (p.Gly204Ter)
c.613G>T (p.Gly205Ter)
c.658G>T (p.Gly220Ter)
c.655G>T (p.Gly219Ter)
4g.121854812C>GCA358066247BBS7c.610G>C (p.Gly204Arg)
c.613G>C (p.Gly205Arg)
c.658G>C (p.Gly220Arg)
c.655G>C (p.Gly219Arg)
 gnomAD v4
4g.121854812C>TCA358066245BBS7c.610G>A (p.Gly204Arg)
c.613G>A (p.Gly205Arg)
c.658G>A (p.Gly220Arg)
c.655G>A (p.Gly219Arg)
 gnomAD v4
4g.121854813A>CCA440922839BBS7c.609T>G (p.Ser203=)
c.612T>G (p.Ser204=)
c.657T>G (p.Ser219=)
c.654T>G (p.Ser218=)
4g.121854813A>GCA440922838BBS7c.609T>C (p.Ser203=)
c.612T>C (p.Ser204=)
c.657T>C (p.Ser219=)
c.654T>C (p.Ser218=)
 gnomAD v4
4g.121854813A>TCA440922837BBS7c.609T>A (p.Ser203=)
c.612T>A (p.Ser204=)
c.657T>A (p.Ser219=)
c.654T>A (p.Ser218=)
4g.121854814G>ACA358066248BBS7c.608C>T (p.Ser203Phe)
c.611C>T (p.Ser204Phe)
c.656C>T (p.Ser219Phe)
c.653C>T (p.Ser218Phe)
 dbSNP gnomAD v4
4g.121854814G>CCA358066250BBS7c.608C>G (p.Ser203Cys)
c.611C>G (p.Ser204Cys)
c.656C>G (p.Ser219Cys)
c.653C>G (p.Ser218Cys)
4g.121854814G=CA1490026013BBS7c.608C= (p.Ser203=)
c.611C= (p.Ser204=)
c.656C= (p.Ser219=)
c.653C= (p.Ser218=)
4g.121854814G>TCA358066252BBS7c.608C>A (p.Ser203Tyr)
c.611C>A (p.Ser204Tyr)
c.656C>A (p.Ser219Tyr)
c.653C>A (p.Ser218Tyr)
4g.121854815A>CCA358066256BBS7c.607T>G (p.Ser203Ala)
c.610T>G (p.Ser204Ala)
c.655T>G (p.Ser219Ala)
c.652T>G (p.Ser218Ala)
4g.121854815A>GCA358066259BBS7c.607T>C (p.Ser203Pro)
c.610T>C (p.Ser204Pro)
c.655T>C (p.Ser219Pro)
c.652T>C (p.Ser218Pro)
4g.121854815A>TCA358066263BBS7c.607T>A (p.Ser203Thr)
c.610T>A (p.Ser204Thr)
c.655T>A (p.Ser219Thr)
c.652T>A (p.Ser218Thr)
4g.121854816G>ACA440922840BBS7c.606C>T (p.Asp202=)
c.609C>T (p.Asp203=)
c.654C>T (p.Asp218=)
c.651C>T (p.Asp217=)
 gnomAD v4
4g.121854816G>CCA358066268BBS7c.606C>G (p.Asp202Glu)
c.609C>G (p.Asp203Glu)
c.654C>G (p.Asp218Glu)
c.651C>G (p.Asp217Glu)
4g.121854816G>TCA358066265BBS7c.606C>A (p.Asp202Glu)
c.609C>A (p.Asp203Glu)
c.654C>A (p.Asp218Glu)
c.651C>A (p.Asp217Glu)
4g.121854817delCA2671949187BBS7c.605del (p.Asp202AlafsTer?)
c.608del (p.Asp203AlafsTer?)
c.653del (p.Asp218AlafsTer?)
c.650del (p.Asp217AlafsTer?)
 gnomAD v4
4g.121854817T>ACA358066269BBS7c.605A>T (p.Asp202Val)
c.608A>T (p.Asp203Val)
c.653A>T (p.Asp218Val)
c.650A>T (p.Asp217Val)
4g.121854817T>CCA358066270BBS7c.605A>G (p.Asp202Gly)
c.608A>G (p.Asp203Gly)
c.653A>G (p.Asp218Gly)
c.650A>G (p.Asp217Gly)
4g.121854817T>GCA358066271BBS7c.605A>C (p.Asp202Ala)
c.608A>C (p.Asp203Ala)
c.653A>C (p.Asp218Ala)
c.650A>C (p.Asp217Ala)
4g.121854818C>ACA358066274BBS7c.604G>T (p.Asp202Tyr)
c.607G>T (p.Asp203Tyr)
c.652G>T (p.Asp218Tyr)
c.649G>T (p.Asp217Tyr)
 gnomAD v4
4g.121854818C>GCA358066276BBS7c.604G>C (p.Asp202His)
c.607G>C (p.Asp203His)
c.652G>C (p.Asp218His)
c.649G>C (p.Asp217His)
4g.121854818C>TCA358066279BBS7c.604G>A (p.Asp202Asn)
c.607G>A (p.Asp203Asn)
c.652G>A (p.Asp218Asn)
c.649G>A (p.Asp217Asn)
4g.121854819A>CCA440922841BBS7c.603T>G (p.Gly201=)
c.606T>G (p.Gly202=)
c.651T>G (p.Gly217=)
c.648T>G (p.Ser216Arg)
4g.121854819A>GCA440922842BBS7c.603T>C (p.Gly201=)
c.606T>C (p.Gly202=)
c.651T>C (p.Gly217=)
c.648T>C (p.Ser216=)
4g.121854819A>TCA440922843BBS7c.603T>A (p.Gly201=)
c.606T>A (p.Gly202=)
c.651T>A (p.Gly217=)
c.648T>A (p.Ser216Arg)
4g.121854820C>ACA358066283BBS7c.602G>T (p.Gly201Val)
c.605G>T (p.Gly202Val)
c.650G>T (p.Gly217Val)
c.647G>T (p.Ser216Ile)
4g.121854820C=CA1490026014BBS7c.602G= (p.Gly201=)
c.605G= (p.Gly202=)
c.650G= (p.Gly217=)
c.647G= (p.Ser216=)
4g.121854820C>GCA358066290BBS7c.602G>C (p.Gly201Ala)
c.605G>C (p.Gly202Ala)
c.650G>C (p.Gly217Ala)
c.647G>C (p.Ser216Thr)
4g.121854820C>TCA358066286BBS7c.602G>A (p.Gly201Asp)
c.605G>A (p.Gly202Asp)
c.650G>A (p.Gly217Asp)
c.647G>A (p.Ser216Asn)
 dbSNP gnomAD v4
4g.121854821C>ACA358066294BBS7c.602-1G>T (n.602-1G>T)
c.604G>T (p.Gly202Cys)
c.649G>T (p.Gly217Cys)
c.647-1G>T (n.647-1G>T)
4g.121854821C>GCA358066307BBS7c.602-1G>C (n.602-1G>C)
c.604G>C (p.Gly202Arg)
c.649G>C (p.Gly217Arg)
c.647-1G>C (n.647-1G>C)
4g.121854821C>TCA358066309BBS7c.602-1G>A (n.602-1G>A)
c.604G>A (p.Gly202Ser)
c.649G>A (p.Gly217Ser)
c.647-1G>A (n.647-1G>A)
4g.121854822T>ACA358066313BBS7c.602-2A>T (n.602-2A>T)
c.603A>T (p.Val201=)
c.648A>T (p.Ile216=)
c.647-2A>T (n.647-2A>T)
 ClinVar
4g.121854822T>CCA358066317BBS7c.602-2A>G (n.602-2A>G)
c.603A>G (p.Val201=)
c.648A>G (p.Ile216Met)
c.647-2A>G (n.647-2A>G)
4g.121854822T>GCA358066322BBS7c.602-2A>C (n.602-2A>C)
c.603A>C (p.Val201=)
c.648A>C (p.Ile216=)
c.647-2A>C (n.647-2A>C)
4g.121854822_121854826delCA2763339221BBS7c.602-6_602-2del (n.602-6_602-2del)
c.602-3_603del
c.647-3_648del
c.647-6_647-2del (n.647-6_647-2del)
4g.121854824C>ACA2580071438BBS7c.602-4G>T (n.602-4G>T)
c.602-1G>T (n.602-1G>T)
c.647-1G>T (n.647-1G>T)
c.647-4G>T (n.647-4G>T)
 ClinVar
4g.121854824C>GCA2707118045BBS7c.602-4G>C (n.602-4G>C)
c.602-1G>C (n.602-1G>C)
c.647-1G>C (n.647-1G>C)
c.647-4G>C (n.647-4G>C)
 dbSNP
4g.121854824C>TCA2671949188BBS7c.602-4G>A (n.602-4G>A)
c.602-1G>A (n.602-1G>A)
c.647-1G>A (n.647-1G>A)
c.647-4G>A (n.647-4G>A)
 gnomAD v4
4g.121854825_121854826insAGACA2763339222BBS7c.602-6_602-5insTCT (n.602-6_602-5insTCT)
c.602-3_602-2insTCT (n.602-3_602-2insTCT)
c.647-3_647-2insTCT (n.647-3_647-2insTCT)
c.647-6_647-5insTCT (n.647-6_647-5insTCT)
4g.121854826T>CCA1490026016BBS7c.602-6A>G (n.602-6A>G)
c.602-3A>G (n.602-3A>G)
c.647-3A>G (n.647-3A>G)
c.647-6A>G (n.647-6A>G)
 dbSNP
4g.121854826T=CA1490026015BBS7c.602-6A= (n.602-6A=)
c.602-3A= (n.602-3A=)
c.647-3A= (n.647-3A=)
c.647-6A= (n.647-6A=)
4g.121854828T>ACA104766728BBS7c.602-8A>T (n.602-8A>T)
c.602-5A>T (n.602-5A>T)
c.647-5A>T (n.647-5A>T)
c.647-8A>T (n.647-8A>T)
 dbSNP
4g.121854828T>CCA2697546888BBS7c.602-8A>G (n.602-8A>G)
c.602-5A>G (n.602-5A>G)
c.647-5A>G (n.647-5A>G)
c.647-8A>G (n.647-8A>G)
 ClinVar
4g.121854828T>GCA2763339226BBS7c.602-8A>C (n.602-8A>C)
c.602-5A>C (n.602-5A>C)
c.647-5A>C (n.647-5A>C)
c.647-8A>C (n.647-8A>C)
4g.121854828T=CA1490026017BBS7c.602-8A= (n.602-8A=)
c.602-5A= (n.602-5A=)
c.647-5A= (n.647-5A=)
c.647-8A= (n.647-8A=)
4g.121854830A=CA1490026018BBS7c.602-10T= (n.602-10T=)
c.602-7T= (n.602-7T=)
c.647-7T= (n.647-7T=)
c.647-10T= (n.647-10T=)
4g.121854830A>GCA3064452BBS7c.602-10T>C (n.602-10T>C)
c.602-7T>C (n.602-7T>C)
c.647-7T>C (n.647-7T>C)
c.647-10T>C (n.647-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854832delCA2763339227BBS7c.602-11del (n.602-11del)
c.602-8del (n.602-8del)
c.647-8del (n.647-8del)
c.647-11del (n.647-11del)
4g.121854832T>GCA2578181053BBS7c.602-12A>C (n.602-12A>C)
c.602-9A>C (n.602-9A>C)
c.647-9A>C (n.647-9A>C)
c.647-12A>C (n.647-12A>C)
4g.121854834A=CA1490026019BBS7c.602-14T= (n.602-14T=)
c.602-11T= (n.602-11T=)
c.647-11T= (n.647-11T=)
c.647-14T= (n.647-14T=)
4g.121854834A>CCA104766731BBS7c.602-14T>G (n.602-14T>G)
c.602-11T>G (n.602-11T>G)
c.647-11T>G (n.647-11T>G)
c.647-14T>G (n.647-14T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854835A>TCA2578181054BBS7c.602-15T>A (n.602-15T>A)
c.602-12T>A (n.602-12T>A)
c.647-12T>A (n.647-12T>A)
c.647-15T>A (n.647-15T>A)
4g.121854836G>CCA554188420BBS7c.602-16C>G (n.602-16C>G)
c.602-13C>G (n.602-13C>G)
c.647-13C>G (n.647-13C>G)
c.647-16C>G (n.647-16C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.121854836G=CA1490026020BBS7c.602-16C= (n.602-16C=)
c.602-13C= (n.602-13C=)
c.647-13C= (n.647-13C=)
c.647-16C= (n.647-16C=)
4g.121854838C>ACA2671949189BBS7c.602-18G>T (n.602-18G>T)
c.602-15G>T (n.602-15G>T)
c.647-15G>T (n.647-15G>T)
c.647-18G>T (n.647-18G>T)
 gnomAD v4
4g.121854838C=CA1490026021BBS7c.602-18G= (n.602-18G=)
c.602-15G= (n.602-15G=)
c.647-15G= (n.647-15G=)
c.647-18G= (n.647-18G=)
4g.121854838C>TCA3064453BBS7c.602-18G>A (n.602-18G>A)
c.602-15G>A (n.602-15G>A)
c.647-15G>A (n.647-15G>A)
c.647-18G>A (n.647-18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854842_121854845delinsATATCA1490026022BBS7c.602-25_602-22delinsATAT (n.602-25_602-22delinsATAT)
c.602-22_602-19delinsATAT (n.602-22_602-19delinsATAT)
c.647-22_647-19delinsATAT (n.647-22_647-19delinsATAT)
c.647-25_647-22delinsATAT (n.647-25_647-22delinsATAT)
4g.121854844_121854845delCA2671949190BBS7c.602-23_602-22del (n.602-23_602-22del)
c.602-20_602-19del (n.602-20_602-19del)
c.647-20_647-19del (n.647-20_647-19del)
c.647-23_647-22del (n.647-23_647-22del)
 gnomAD v4
4g.121854847_121854851delCA2671949191BBS7c.602-26_602-22del (n.602-26_602-22del)
c.602-23_602-19del (n.602-23_602-19del)
c.647-23_647-19del (n.647-23_647-19del)
c.647-26_647-22del (n.647-26_647-22del)
 gnomAD v4
4g.121854846_121854848delCA1490026023BBS7c.602-25_602-23del (n.602-25_602-23del)
c.602-22_602-20del (n.602-22_602-20del)
c.647-22_647-20del (n.647-22_647-20del)
c.647-25_647-23del (n.647-25_647-23del)
 dbSNP
4g.121854845T>CCA2671949192BBS7c.602-25A>G (n.602-25A>G)
c.602-22A>G (n.602-22A>G)
c.647-22A>G (n.647-22A>G)
c.647-25A>G (n.647-25A>G)
 gnomAD v4
4g.121854845T>GCA1490026025BBS7c.602-25A>C (n.602-25A>C)
c.602-22A>C (n.602-22A>C)
c.647-22A>C (n.647-22A>C)
c.647-25A>C (n.647-25A>C)
 dbSNP
4g.121854845T=CA1490026024BBS7c.602-25A= (n.602-25A=)
c.602-22A= (n.602-22A=)
c.647-22A= (n.647-22A=)
c.647-25A= (n.647-25A=)
4g.121854846_121854857delCA2763339229BBS7c.602-36_602-25del (n.602-36_602-25del)
c.602-33_602-22del (n.602-33_602-22del)
c.647-33_647-22del (n.647-33_647-22del)
c.647-36_647-25del (n.647-36_647-25del)
4g.121854846T>ACA2671949193BBS7c.602-26A>T (n.602-26A>T)
c.602-23A>T (n.602-23A>T)
c.647-23A>T (n.647-23A>T)
c.647-26A>T (n.647-26A>T)
 gnomAD v4
4g.121854847_121854852delinsATATTTCA1490026026BBS7c.602-32_602-27delinsAAATAT (n.602-32_602-27delinsAAATAT)
c.602-29_602-24delinsAAATAT (n.602-29_602-24delinsAAATAT)
c.647-29_647-24delinsAAATAT (n.647-29_647-24delinsAAATAT)
c.647-32_647-27delinsAAATAT (n.647-32_647-27delinsAAATAT)
4g.121854848T>CCA554188423BBS7c.602-28A>G (n.602-28A>G)
c.602-25A>G (n.602-25A>G)
c.647-25A>G (n.647-25A>G)
c.647-28A>G (n.647-28A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.121854848T=CA1490026027BBS7c.602-28A= (n.602-28A=)
c.602-25A= (n.602-25A=)
c.647-25A= (n.647-25A=)
c.647-28A= (n.647-28A=)
4g.121854848_121854852delCA786316357BBS7c.602-32_602-28del (n.602-32_602-28del)
c.602-29_602-25del (n.602-29_602-25del)
c.647-29_647-25del (n.647-29_647-25del)
c.647-32_647-28del (n.647-32_647-28del)
 dbSNP gnomAD v3 gnomAD v4
4g.121854850T>CCA2671949194BBS7c.602-30A>G (n.602-30A>G)
c.602-27A>G (n.602-27A>G)
c.647-27A>G (n.647-27A>G)
c.647-30A>G (n.647-30A>G)
 gnomAD v4
4g.121854850T>GCA2671949195BBS7c.602-30A>C (n.602-30A>C)
c.602-27A>C (n.602-27A>C)
c.647-27A>C (n.647-27A>C)
c.647-30A>C (n.647-30A>C)
 gnomAD v4
4g.121854853A=CA1490026028BBS7c.602-33T= (n.602-33T=)
c.602-30T= (n.602-30T=)
c.647-30T= (n.647-30T=)
c.647-33T= (n.647-33T=)
4g.121854853A>GCA1490026029BBS7c.602-33T>C (n.602-33T>C)
c.602-30T>C (n.602-30T>C)
c.647-30T>C (n.647-30T>C)
c.647-33T>C (n.647-33T>C)
 dbSNP gnomAD v4
4g.121854854T>CCA2671949196BBS7c.602-34A>G (n.602-34A>G)
c.602-31A>G (n.602-31A>G)
c.647-31A>G (n.647-31A>G)
c.647-34A>G (n.647-34A>G)
 gnomAD v4
4g.121854855C>ACA2763339231BBS7c.602-35G>T (n.602-35G>T)
c.602-32G>T (n.602-32G>T)
c.647-32G>T (n.647-32G>T)
c.647-35G>T (n.647-35G>T)
4g.121854855C=CA1490026030BBS7c.602-35G= (n.602-35G=)
c.602-32G= (n.602-32G=)
c.647-32G= (n.647-32G=)
c.647-35G= (n.647-35G=)
4g.121854855C>GCA1067454955BBS7c.602-35G>C (n.602-35G>C)
c.602-32G>C (n.602-32G>C)
c.647-32G>C (n.647-32G>C)
c.647-35G>C (n.647-35G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.121854855C>TCA2671949197BBS7c.602-35G>A (n.602-35G>A)
c.602-32G>A (n.602-32G>A)
c.647-32G>A (n.647-32G>A)
c.647-35G>A (n.647-35G>A)
 gnomAD v4
4g.121854856C>ACA104766732BBS7c.602-36G>T (n.602-36G>T)
c.602-33G>T (n.602-33G>T)
c.647-33G>T (n.647-33G>T)
c.647-36G>T (n.647-36G>T)
 dbSNP gnomAD v3 gnomAD v4
4g.121854856C=CA1490026031BBS7c.602-36G= (n.602-36G=)
c.602-33G= (n.602-33G=)
c.647-33G= (n.647-33G=)
c.647-36G= (n.647-36G=)
4g.121854857_121854859delCA2763339233BBS7c.602-38_602-36del (n.602-38_602-36del)
c.602-35_602-33del (n.602-35_602-33del)
c.647-35_647-33del (n.647-35_647-33del)
c.647-38_647-36del (n.647-38_647-36del)
4g.121854857delCA2763339234BBS7c.602-37del (n.602-37del)
c.602-34del (n.602-34del)
c.647-34del (n.647-34del)
c.647-37del (n.647-37del)
4g.121854858A=CA1490026032BBS7c.602-38T= (n.602-38T=)
c.602-35T= (n.602-35T=)
c.647-35T= (n.647-35T=)
c.647-38T= (n.647-38T=)
4g.121854858A>TCA3064454BBS7c.602-38T>A (n.602-38T>A)
c.602-35T>A (n.602-35T>A)
c.647-35T>A (n.647-35T>A)
c.647-38T>A (n.647-38T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854858_121854859insAGTCA2763339236BBS7c.602-39_602-38insACT (n.602-39_602-38insACT)
c.602-36_602-35insACT (n.602-36_602-35insACT)
c.647-36_647-35insACT (n.647-36_647-35insACT)
c.647-39_647-38insACT (n.647-39_647-38insACT)
4g.121854859delCA2763339237BBS7c.602-39del (n.602-39del)
c.602-36del (n.602-36del)
c.647-36del (n.647-36del)
c.647-39del (n.647-39del)
4g.121854859C>ACA3064455BBS7c.602-39G>T (n.602-39G>T)
c.602-36G>T (n.602-36G>T)
c.647-36G>T (n.647-36G>T)
c.647-39G>T (n.647-39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854859C=CA1490026033BBS7c.602-39G= (n.602-39G=)
c.602-36G= (n.602-36G=)
c.647-36G= (n.647-36G=)
c.647-39G= (n.647-39G=)
4g.121854859C>TCA2671949198BBS7c.602-39G>A (n.602-39G>A)
c.602-36G>A (n.602-36G>A)
c.647-36G>A (n.647-36G>A)
c.647-39G>A (n.647-39G>A)
 gnomAD v4
4g.121854860A=CA1490026034BBS7c.602-40T= (n.602-40T=)
c.602-37T= (n.602-37T=)
c.647-37T= (n.647-37T=)
c.647-40T= (n.647-40T=)
4g.121854860A>CCA915014590BBS7c.602-40T>G (n.602-40T>G)
c.602-37T>G (n.602-37T>G)
c.647-37T>G (n.647-37T>G)
c.647-40T>G (n.647-40T>G)
 dbSNP gnomAD v2 gnomAD v4
4g.121854861A=CA1490026035BBS7c.602-41T= (n.602-41T=)
c.602-38T= (n.602-38T=)
c.647-38T= (n.647-38T=)
c.647-41T= (n.647-41T=)
4g.121854861A>CCA2763339238BBS7c.602-41T>G (n.602-41T>G)
c.602-38T>G (n.602-38T>G)
c.647-38T>G (n.647-38T>G)
c.647-41T>G (n.647-41T>G)
4g.121854861A>GCA3064456BBS7c.602-41T>C (n.602-41T>C)
c.602-38T>C (n.602-38T>C)
c.647-38T>C (n.647-38T>C)
c.647-41T>C (n.647-41T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854862T>CCA3064457BBS7c.602-42A>G (n.602-42A>G)
c.602-39A>G (n.602-39A>G)
c.647-39A>G (n.647-39A>G)
c.647-42A>G (n.647-42A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854862T=CA1490026036BBS7c.602-42A= (n.602-42A=)
c.602-39A= (n.602-39A=)
c.647-39A= (n.647-39A=)
c.647-42A= (n.647-42A=)
4g.121854863delCA2763339239BBS7c.602-42del (n.602-42del)
c.602-39del (n.602-39del)
c.647-39del (n.647-39del)
c.647-42del (n.647-42del)
4g.121854862_121854863insACA2763339240BBS7c.602-43_602-42insT (n.602-43_602-42insT)
c.602-40_602-39insT (n.602-40_602-39insT)
c.647-40_647-39insT (n.647-40_647-39insT)
c.647-43_647-42insT (n.647-43_647-42insT)
4g.121854863T>CCA2763339241BBS7c.602-43A>G (n.602-43A>G)
c.602-40A>G (n.602-40A>G)
c.647-40A>G (n.647-40A>G)
c.647-43A>G (n.647-43A>G)
4g.121854865_121854867delCA2671949199BBS7c.602-45_602-43del (n.602-45_602-43del)
c.602-42_602-40del (n.602-42_602-40del)
c.647-42_647-40del (n.647-42_647-40del)
c.647-45_647-43del (n.647-45_647-43del)
 gnomAD v4
4g.121854865G>CCA554188429BBS7c.602-45C>G (n.602-45C>G)
c.602-42C>G (n.602-42C>G)
c.647-42C>G (n.647-42C>G)
c.647-45C>G (n.647-45C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.121854865G=CA1490026037BBS7c.602-45C= (n.602-45C=)
c.602-42C= (n.602-42C=)
c.647-42C= (n.647-42C=)
c.647-45C= (n.647-45C=)
4g.121854865G>TCA2671949200BBS7c.602-45C>A (n.602-45C>A)
c.602-42C>A (n.602-42C>A)
c.647-42C>A (n.647-42C>A)
c.647-45C>A (n.647-45C>A)
 gnomAD v4
4g.121854865_121854866insACCA2763339242BBS7c.602-46_602-45insGT (n.602-46_602-45insGT)
c.602-43_602-42insGT (n.602-43_602-42insGT)
c.647-43_647-42insGT (n.647-43_647-42insGT)
c.647-46_647-45insGT (n.647-46_647-45insGT)
4g.121854869T>ACA2671949201BBS7c.602-49A>T (n.602-49A>T)
c.602-46A>T (n.602-46A>T)
c.647-46A>T (n.647-46A>T)
c.647-49A>T (n.647-49A>T)
 gnomAD v4
4g.121854870C>ACA3064458BBS7c.602-50G>T (n.602-50G>T)
c.602-47G>T (n.602-47G>T)
c.647-47G>T (n.647-47G>T)
c.647-50G>T (n.647-50G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854870C=CA1490026038BBS7c.602-50G= (n.602-50G=)
c.602-47G= (n.602-47G=)
c.647-47G= (n.647-47G=)
c.647-50G= (n.647-50G=)
4g.121854870_121854882delCA2763339243BBS7c.602-62_602-50del (n.602-62_602-50del)
c.602-59_602-47del (n.602-59_602-47del)
c.647-59_647-47del (n.647-59_647-47del)
c.647-62_647-50del (n.647-62_647-50del)
4g.121854870_121854871insAGCA2763339244BBS7c.602-51_602-50insCT (n.602-51_602-50insCT)
c.602-48_602-47insCT (n.602-48_602-47insCT)
c.647-48_647-47insCT (n.647-48_647-47insCT)
c.647-51_647-50insCT (n.647-51_647-50insCT)
4g.121854871T>ACA1490026040BBS7c.602-51A>T (n.602-51A>T)
c.602-48A>T (n.602-48A>T)
c.647-48A>T (n.647-48A>T)
c.647-51A>T (n.647-51A>T)
 dbSNP
4g.121854871T>CCA2671949202BBS7c.602-51A>G (n.602-51A>G)
c.602-48A>G (n.602-48A>G)
c.647-48A>G (n.647-48A>G)
c.647-51A>G (n.647-51A>G)
 gnomAD v4
4g.121854871T>GCA2671949203BBS7c.602-51A>C (n.602-51A>C)
c.602-48A>C (n.602-48A>C)
c.647-48A>C (n.647-48A>C)
c.647-51A>C (n.647-51A>C)
 gnomAD v4
4g.121854871T=CA1490026039BBS7c.602-51A= (n.602-51A=)
c.602-48A= (n.602-48A=)
c.647-48A= (n.647-48A=)
c.647-51A= (n.647-51A=)
4g.121854872_121854875delCA2763339245BBS7c.602-54_602-51del (n.602-54_602-51del)
c.602-51_602-48del (n.602-51_602-48del)
c.647-51_647-48del (n.647-51_647-48del)
c.647-54_647-51del (n.647-54_647-51del)
4g.121854872C>ACA2671949204BBS7c.602-52G>T (n.602-52G>T)
c.602-49G>T (n.602-49G>T)
c.647-49G>T (n.647-49G>T)
c.647-52G>T (n.647-52G>T)
 gnomAD v4
4g.121854873T>CCA2763339248BBS7c.602-53A>G (n.602-53A>G)
c.602-50A>G (n.602-50A>G)
c.647-50A>G (n.647-50A>G)
c.647-53A>G (n.647-53A>G)
4g.121854873_121854875delCA2763339247BBS7c.602-55_602-53del (n.602-55_602-53del)
c.602-52_602-50del (n.602-52_602-50del)
c.647-52_647-50del (n.647-52_647-50del)
c.647-55_647-53del (n.647-55_647-53del)
4g.121854875delCA2763339246BBS7c.602-53del (n.602-53del)
c.602-50del (n.602-50del)
c.647-50del (n.647-50del)
c.647-53del (n.647-53del)
4g.121854873_121854874insAGTACA2763339249BBS7c.602-54_602-53insTACT (n.602-54_602-53insTACT)
c.602-51_602-50insTACT (n.602-51_602-50insTACT)
c.647-51_647-50insTACT (n.647-51_647-50insTACT)
c.647-54_647-53insTACT (n.647-54_647-53insTACT)
4g.121854874T>ACA2763339250BBS7c.602-54A>T (n.602-54A>T)
c.602-51A>T (n.602-51A>T)
c.647-51A>T (n.647-51A>T)
c.647-54A>T (n.647-54A>T)
4g.121854874T>CCA786316374BBS7c.602-54A>G (n.602-54A>G)
c.602-51A>G (n.602-51A>G)
c.647-51A>G (n.647-51A>G)
c.647-54A>G (n.647-54A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.121854874T=CA1490026041BBS7c.602-54A= (n.602-54A=)
c.602-51A= (n.602-51A=)
c.647-51A= (n.647-51A=)
c.647-54A= (n.647-54A=)
4g.121854875T>ACA2578181055BBS7c.602-55A>T (n.602-55A>T)
c.602-52A>T (n.602-52A>T)
c.647-52A>T (n.647-52A>T)
c.647-55A>T (n.647-55A>T)
 gnomAD v4
4g.121854875T>CCA104766756BBS7c.602-55A>G (n.602-55A>G)
c.602-52A>G (n.602-52A>G)
c.647-52A>G (n.647-52A>G)
c.647-55A>G (n.647-55A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.121854875T>GCA2671949205BBS7c.602-55A>C (n.602-55A>C)
c.602-52A>C (n.602-52A>C)
c.647-52A>C (n.647-52A>C)
c.647-55A>C (n.647-55A>C)
 gnomAD v4
4g.121854875T=CA1490026042BBS7c.602-55A= (n.602-55A=)
c.602-52A= (n.602-52A=)
c.647-52A= (n.647-52A=)
c.647-55A= (n.647-55A=)
4g.121854875_121854877delCA2763339252BBS7c.602-57_602-55del (n.602-57_602-55del)
c.602-54_602-52del (n.602-54_602-52del)
c.647-54_647-52del (n.647-54_647-52del)
c.647-57_647-55del (n.647-57_647-55del)
4g.121854876A>CCA2578181056BBS7c.602-56T>G (n.602-56T>G)
c.602-53T>G (n.602-53T>G)
c.647-53T>G (n.647-53T>G)
c.647-56T>G (n.647-56T>G)
4g.121854879dupCA2671949206BBS7c.602-56dup (n.602-56dup)
c.602-53dup (n.602-53dup)
c.647-53dup (n.647-53dup)
c.647-56dup (n.647-56dup)
 gnomAD v4
4g.121854878_121854879delCA2763339253BBS7c.602-57_602-56del (n.602-57_602-56del)
c.602-54_602-53del (n.602-54_602-53del)
c.647-54_647-53del (n.647-54_647-53del)
c.647-57_647-56del (n.647-57_647-56del)
4g.121854877A>CCA2763339255BBS7c.602-57T>G (n.602-57T>G)
c.602-54T>G (n.602-54T>G)
c.647-54T>G (n.647-54T>G)
c.647-57T>G (n.647-57T>G)
4g.121854877A>GCA2763339254BBS7c.602-57T>C (n.602-57T>C)
c.602-54T>C (n.602-54T>C)
c.647-54T>C (n.647-54T>C)
c.647-57T>C (n.647-57T>C)
4g.121854877_121854886delCA2763339256BBS7c.602-66_602-57del (n.602-66_602-57del)
c.602-63_602-54del (n.602-63_602-54del)
c.647-63_647-54del (n.647-63_647-54del)
c.647-66_647-57del (n.647-66_647-57del)
4g.121854878A>GCA2671949207BBS7c.602-58T>C (n.602-58T>C)
c.602-55T>C (n.602-55T>C)
c.647-55T>C (n.647-55T>C)
c.647-58T>C (n.647-58T>C)
 gnomAD v4
4g.121854879A>CCA2763339257BBS7c.602-59T>G (n.602-59T>G)
c.602-56T>G (n.602-56T>G)
c.647-56T>G (n.647-56T>G)
c.647-59T>G (n.647-59T>G)
4g.121854879A>GCA2671949208BBS7c.602-59T>C (n.602-59T>C)
c.602-56T>C (n.602-56T>C)
c.647-56T>C (n.647-56T>C)
c.647-59T>C (n.647-59T>C)
 gnomAD v4

Number of alleles fetched