Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.121854778T>A | CA358066036 | BBS7 | c.644A>T (p.Lys215Ile) c.647A>T (p.Lys216Ile) c.692A>T (p.Lys231Ile) c.689A>T (p.Lys230Ile) | |
4 | g.121854778T>C | CA358066035 | BBS7 | c.644A>G (p.Lys215Arg) c.647A>G (p.Lys216Arg) c.692A>G (p.Lys231Arg) c.689A>G (p.Lys230Arg) | gnomAD v4 |
4 | g.121854778T>G | CA3064445 | BBS7 | c.644A>C (p.Lys215Thr) c.647A>C (p.Lys216Thr) c.692A>C (p.Lys231Thr) c.689A>C (p.Lys230Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854778T= | CA1490025995 | BBS7 | c.644A= (p.Lys215=) c.647A= (p.Lys216=) c.692A= (p.Lys231=) c.689A= (p.Lys230=) | |
4 | g.121854779T>A | CA358066039 | BBS7 | c.643A>T (p.Lys215Ter) c.646A>T (p.Lys216Ter) c.691A>T (p.Lys231Ter) c.688A>T (p.Lys230Ter) | |
4 | g.121854779T>C | CA358066042 | BBS7 | c.643A>G (p.Lys215Glu) c.646A>G (p.Lys216Glu) c.691A>G (p.Lys231Glu) c.688A>G (p.Lys230Glu) | |
4 | g.121854779T>G | CA358066044 | BBS7 | c.643A>C (p.Lys215Gln) c.646A>C (p.Lys216Gln) c.691A>C (p.Lys231Gln) c.688A>C (p.Lys230Gln) | |
4 | g.121854780T>A | CA440922814 | BBS7 | c.642A>T (p.Gly214=) c.645A>T (p.Gly215=) c.690A>T (p.Gly230=) c.687A>T (p.Gly229=) | |
4 | g.121854780T>C | CA440922815 | BBS7 | c.642A>G (p.Gly214=) c.645A>G (p.Gly215=) c.690A>G (p.Gly230=) c.687A>G (p.Gly229=) | |
4 | g.121854780T>G | CA440922816 | BBS7 | c.642A>C (p.Gly214=) c.645A>C (p.Gly215=) c.690A>C (p.Gly230=) c.687A>C (p.Gly229=) | |
4 | g.121854781C>A | CA358066046 | BBS7 | c.641G>T (p.Gly214Val) c.644G>T (p.Gly215Val) c.689G>T (p.Gly230Val) c.686G>T (p.Gly229Val) | |
4 | g.121854781C>G | CA358066050 | BBS7 | c.641G>C (p.Gly214Ala) c.644G>C (p.Gly215Ala) c.689G>C (p.Gly230Ala) c.686G>C (p.Gly229Ala) | |
4 | g.121854781C>T | CA358066053 | BBS7 | c.641G>A (p.Gly214Glu) c.644G>A (p.Gly215Glu) c.689G>A (p.Gly230Glu) c.686G>A (p.Gly229Glu) | |
4 | g.121854782C>A | CA358066056 | BBS7 | c.640G>T (p.Gly214Ter) c.643G>T (p.Gly215Ter) c.688G>T (p.Gly230Ter) c.685G>T (p.Gly229Ter) | |
4 | g.121854782C= | CA1490025996 | BBS7 | c.640G= (p.Gly214=) c.643G= (p.Gly215=) c.688G= (p.Gly230=) c.685G= (p.Gly229=) | |
4 | g.121854782C>G | CA358066059 | BBS7 | c.640G>C (p.Gly214Arg) c.643G>C (p.Gly215Arg) c.688G>C (p.Gly230Arg) c.685G>C (p.Gly229Arg) | ClinVar |
4 | g.121854782C>T | CA358066067 | BBS7 | c.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 |
4 | g.121854783G>A | CA3064446 | BBS7 | c.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 |
4 | g.121854783G>C | CA358066074 | BBS7 | c.639C>G (p.Asp213Glu) c.642C>G (p.Asp214Glu) c.687C>G (p.Asp229Glu) c.684C>G (p.Asp228Glu) | |
4 | g.121854783G= | CA1490025997 | BBS7 | c.639C= (p.Asp213=) c.642C= (p.Asp214=) c.687C= (p.Asp229=) c.684C= (p.Asp228=) | |
4 | g.121854783G>T | CA358066077 | BBS7 | c.639C>A (p.Asp213Glu) c.642C>A (p.Asp214Glu) c.687C>A (p.Asp229Glu) c.684C>A (p.Asp228Glu) | |
4 | g.121854784T>A | CA358066088 | BBS7 | c.638A>T (p.Asp213Val) c.641A>T (p.Asp214Val) c.686A>T (p.Asp229Val) c.683A>T (p.Asp228Val) | |
4 | g.121854784T>C | CA358066086 | BBS7 | c.638A>G (p.Asp213Gly) c.641A>G (p.Asp214Gly) c.686A>G (p.Asp229Gly) c.683A>G (p.Asp228Gly) | gnomAD v4 |
4 | g.121854784T>G | CA358066085 | BBS7 | c.638A>C (p.Asp213Ala) c.641A>C (p.Asp214Ala) c.686A>C (p.Asp229Ala) c.683A>C (p.Asp228Ala) | |
4 | g.121854785C>A | CA358066090 | BBS7 | c.637G>T (p.Asp213Tyr) c.640G>T (p.Asp214Tyr) c.685G>T (p.Asp229Tyr) c.682G>T (p.Asp228Tyr) | |
4 | g.121854785C>G | CA358066093 | BBS7 | c.637G>C (p.Asp213His) c.640G>C (p.Asp214His) c.685G>C (p.Asp229His) c.682G>C (p.Asp228His) | |
4 | g.121854785C>T | CA358066096 | BBS7 | c.637G>A (p.Asp213Asn) c.640G>A (p.Asp214Asn) c.685G>A (p.Asp229Asn) c.682G>A (p.Asp228Asn) | gnomAD v4 |
4 | g.121854786T>A | CA440922817 | BBS7 | c.636A>T (p.Ser212=) c.639A>T (p.Ser213=) c.684A>T (p.Ser228=) c.681A>T (p.Ser227=) | gnomAD v4 |
4 | g.121854786T>C | CA440922818 | BBS7 | c.636A>G (p.Ser212=) c.639A>G (p.Ser213=) c.684A>G (p.Ser228=) c.681A>G (p.Ser227=) | |
4 | g.121854786T>G | CA440922819 | BBS7 | c.636A>C (p.Ser212=) c.639A>C (p.Ser213=) c.684A>C (p.Ser228=) c.681A>C (p.Ser227=) | |
4 | g.121854787G>A | CA358066099 | BBS7 | c.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 |
4 | g.121854787G>C | CA3064447 | BBS7 | c.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 |
4 | g.121854787G= | CA1490025998 | BBS7 | c.635C= (p.Ser212=) c.638C= (p.Ser213=) c.683C= (p.Ser228=) c.680C= (p.Ser227=) | |
4 | g.121854787G>T | CA358066103 | BBS7 | c.635C>A (p.Ser212Ter) c.638C>A (p.Ser213Ter) c.683C>A (p.Ser228Ter) c.680C>A (p.Ser227Ter) | |
4 | g.121854788A>C | CA358066106 | BBS7 | c.634T>G (p.Ser212Ala) c.637T>G (p.Ser213Ala) c.682T>G (p.Ser228Ala) c.679T>G (p.Ser227Ala) | |
4 | g.121854788A>G | CA358066109 | BBS7 | c.634T>C (p.Ser212Pro) c.637T>C (p.Ser213Pro) c.682T>C (p.Ser228Pro) c.679T>C (p.Ser227Pro) | |
4 | g.121854788A>T | CA358066112 | BBS7 | c.634T>A (p.Ser212Thr) c.637T>A (p.Ser213Thr) c.682T>A (p.Ser228Thr) c.679T>A (p.Ser227Thr) | |
4 | g.121854789T>A | CA440922820 | BBS7 | c.633A>T (p.Thr211=) c.636A>T (p.Thr212=) c.681A>T (p.Thr227=) c.678A>T (p.Thr226=) | |
4 | g.121854789T>C | CA440922821 | BBS7 | c.633A>G (p.Thr211=) c.636A>G (p.Thr212=) c.681A>G (p.Thr227=) c.678A>G (p.Thr226=) | ClinVar dbSNP gnomAD v4 |
4 | g.121854789T>G | CA440922822 | BBS7 | c.633A>C (p.Thr211=) c.636A>C (p.Thr212=) c.681A>C (p.Thr227=) c.678A>C (p.Thr226=) | |
4 | g.121854789T= | CA1490025999 | BBS7 | c.633A= (p.Thr211=) c.636A= (p.Thr212=) c.681A= (p.Thr227=) c.678A= (p.Thr226=) | |
4 | g.121854790G>A | CA252534 | BBS7 | c.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 |
4 | g.121854790G>C | CA358066119 | BBS7 | c.632C>G (p.Thr211Arg) c.635C>G (p.Thr212Arg) c.680C>G (p.Thr227Arg) c.677C>G (p.Thr226Arg) | ClinVar dbSNP |
4 | g.121854790G= | CA1490026000 | BBS7 | c.632C= (p.Thr211=) c.635C= (p.Thr212=) c.680C= (p.Thr227=) c.677C= (p.Thr226=) | |
4 | g.121854790G>T | CA358066122 | BBS7 | c.632C>A (p.Thr211Lys) c.635C>A (p.Thr212Lys) c.680C>A (p.Thr227Lys) c.677C>A (p.Thr226Lys) | |
4 | g.121854791T>A | CA358066126 | BBS7 | c.631A>T (p.Thr211Ser) c.634A>T (p.Thr212Ser) c.679A>T (p.Thr227Ser) c.676A>T (p.Thr226Ser) | gnomAD v4 |
4 | g.121854791T>C | CA358066130 | BBS7 | c.631A>G (p.Thr211Ala) c.634A>G (p.Thr212Ala) c.679A>G (p.Thr227Ala) c.676A>G (p.Thr226Ala) | dbSNP gnomAD v4 |
4 | g.121854791T>G | CA358066125 | BBS7 | c.631A>C (p.Thr211Pro) c.634A>C (p.Thr212Pro) c.679A>C (p.Thr227Pro) c.676A>C (p.Thr226Pro) | |
4 | g.121854791T= | CA1490026001 | BBS7 | c.631A= (p.Thr211=) c.634A= (p.Thr212=) c.679A= (p.Thr227=) c.676A= (p.Thr226=) | |
4 | g.121854792C>A | CA440922825 | BBS7 | c.630G>T (p.Gly210=) c.633G>T (p.Gly211=) c.678G>T (p.Gly226=) c.675G>T (p.Gly225=) | |
4 | g.121854792C>G | CA440922824 | BBS7 | c.630G>C (p.Gly210=) c.633G>C (p.Gly211=) c.678G>C (p.Gly226=) c.675G>C (p.Gly225=) | |
4 | g.121854792C>T | CA440922823 | BBS7 | c.630G>A (p.Gly210=) c.633G>A (p.Gly211=) c.678G>A (p.Gly226=) c.675G>A (p.Gly225=) | gnomAD v4 |
4 | g.121854793C>A | CA358066133 | BBS7 | c.629G>T (p.Gly210Val) c.632G>T (p.Gly211Val) c.677G>T (p.Gly226Val) c.674G>T (p.Gly225Val) | |
4 | g.121854793C>G | CA358066136 | BBS7 | c.629G>C (p.Gly210Ala) c.632G>C (p.Gly211Ala) c.677G>C (p.Gly226Ala) c.674G>C (p.Gly225Ala) | |
4 | g.121854793C>T | CA358066139 | BBS7 | c.629G>A (p.Gly210Glu) c.632G>A (p.Gly211Glu) c.677G>A (p.Gly226Glu) c.674G>A (p.Gly225Glu) | gnomAD v4 |
4 | g.121854794C>A | CA358066141 | BBS7 | c.628G>T (p.Gly210Trp) c.631G>T (p.Gly211Trp) c.676G>T (p.Gly226Trp) c.673G>T (p.Gly225Trp) | |
4 | g.121854794C>G | CA358066142 | BBS7 | c.628G>C (p.Gly210Arg) c.631G>C (p.Gly211Arg) c.676G>C (p.Gly226Arg) c.673G>C (p.Gly225Arg) | |
4 | g.121854794C>T | CA358066143 | BBS7 | c.628G>A (p.Gly210Arg) c.631G>A (p.Gly211Arg) c.676G>A (p.Gly226Arg) c.673G>A (p.Gly225Arg) | |
4 | g.121854795A>C | CA358066144 | BBS7 | c.627T>G (p.Phe209Leu) c.630T>G (p.Phe210Leu) c.675T>G (p.Phe225Leu) c.672T>G (p.Phe224Leu) | |
4 | g.121854795A>G | CA440922826 | BBS7 | c.627T>C (p.Phe209=) c.630T>C (p.Phe210=) c.675T>C (p.Phe225=) c.672T>C (p.Phe224=) | ClinVar dbSNP gnomAD v4 |
4 | g.121854795A>T | CA358066145 | BBS7 | c.627T>A (p.Phe209Leu) c.630T>A (p.Phe210Leu) c.675T>A (p.Phe225Leu) c.672T>A (p.Phe224Leu) | |
4 | g.121854796A= | CA1490026002 | BBS7 | c.626T= (p.Phe209=) c.629T= (p.Phe210=) c.674T= (p.Phe225=) c.671T= (p.Phe224=) | |
4 | g.121854796A>C | CA358066146 | BBS7 | c.626T>G (p.Phe209Cys) c.629T>G (p.Phe210Cys) c.674T>G (p.Phe225Cys) c.671T>G (p.Phe224Cys) | |
4 | g.121854796A>G | CA358066147 | BBS7 | c.626T>C (p.Phe209Ser) c.629T>C (p.Phe210Ser) c.674T>C (p.Phe225Ser) c.671T>C (p.Phe224Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854796A>T | CA358066148 | BBS7 | c.626T>A (p.Phe209Tyr) c.629T>A (p.Phe210Tyr) c.674T>A (p.Phe225Tyr) c.671T>A (p.Phe224Tyr) | |
4 | g.121854797A>C | CA358066151 | BBS7 | c.625T>G (p.Phe209Val) c.628T>G (p.Phe210Val) c.673T>G (p.Phe225Val) c.670T>G (p.Phe224Val) | |
4 | g.121854797A>G | CA358066152 | BBS7 | c.625T>C (p.Phe209Leu) c.628T>C (p.Phe210Leu) c.673T>C (p.Phe225Leu) c.670T>C (p.Phe224Leu) | |
4 | g.121854797A>T | CA358066156 | BBS7 | c.625T>A (p.Phe209Ile) c.628T>A (p.Phe210Ile) c.673T>A (p.Phe225Ile) c.670T>A (p.Phe224Ile) | |
4 | g.121854798C>A | CA104766712 | BBS7 | c.624G>T (p.Leu208Phe) c.627G>T (p.Leu209Phe) c.672G>T (p.Leu224Phe) c.669G>T (p.Leu223Phe) | dbSNP |
4 | g.121854798C= | CA1490026003 | BBS7 | c.624G= (p.Leu208=) c.627G= (p.Leu209=) c.672G= (p.Leu224=) c.669G= (p.Leu223=) | |
4 | g.121854798C>G | CA358066159 | BBS7 | c.624G>C (p.Leu208Phe) c.627G>C (p.Leu209Phe) c.672G>C (p.Leu224Phe) c.669G>C (p.Leu223Phe) | |
4 | g.121854798C>T | CA440922827 | BBS7 | c.624G>A (p.Leu208=) c.627G>A (p.Leu209=) c.672G>A (p.Leu224=) c.669G>A (p.Leu223=) | |
4 | g.121854799A= | CA1490026004 | BBS7 | c.623T= (p.Leu208=) c.626T= (p.Leu209=) c.671T= (p.Leu224=) c.668T= (p.Leu223=) | |
4 | g.121854799A>C | CA3064448 | BBS7 | c.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 |
4 | g.121854799A>G | CA358066165 | BBS7 | c.623T>C (p.Leu208Ser) c.626T>C (p.Leu209Ser) c.671T>C (p.Leu224Ser) c.668T>C (p.Leu223Ser) | gnomAD v4 |
4 | g.121854799A>T | CA358066166 | BBS7 | c.623T>A (p.Leu208Ter) c.626T>A (p.Leu209Ter) c.671T>A (p.Leu224Ter) c.668T>A (p.Leu223Ter) | |
4 | g.121854799_121854800insCACC | CA2763339217 | BBS7 | c.622_623insGGTG (p.Leu208TrpfsTer29) c.625_626insGGTG (p.Leu209TrpfsTer29) c.670_671insGGTG (p.Leu224TrpfsTer29) c.667_668insGGTG (p.Leu223TrpfsTer29) | |
4 | g.121854799_121854800insCACCCAACAC | CA2763339218 | BBS7 | c.622_623insGTGTTGGGTG (p.Leu208CysfsTer31) c.625_626insGTGTTGGGTG (p.Leu209CysfsTer31) c.670_671insGTGTTGGGTG (p.Leu224CysfsTer31) c.667_668insGTGTTGGGTG (p.Leu223CysfsTer31) | |
4 | g.121854800A>C | CA358066168 | BBS7 | c.622T>G (p.Leu208Val) c.625T>G (p.Leu209Val) c.670T>G (p.Leu224Val) c.667T>G (p.Leu223Val) | |
4 | g.121854800A>G | CA440922828 | BBS7 | c.622T>C (p.Leu208=) c.625T>C (p.Leu209=) c.670T>C (p.Leu224=) c.667T>C (p.Leu223=) | |
4 | g.121854800A>T | CA358066171 | BBS7 | c.622T>A (p.Leu208Met) c.625T>A (p.Leu209Met) c.670T>A (p.Leu224Met) c.667T>A (p.Leu223Met) | |
4 | g.121854801A>C | CA440922829 | BBS7 | c.621T>G (p.Leu207=) c.624T>G (p.Leu208=) c.669T>G (p.Leu223=) c.666T>G (p.Leu222=) | |
4 | g.121854801A>G | CA440922830 | BBS7 | c.621T>C (p.Leu207=) c.624T>C (p.Leu208=) c.669T>C (p.Leu223=) c.666T>C (p.Leu222=) | gnomAD v4 |
4 | g.121854801A>T | CA440922831 | BBS7 | c.621T>A (p.Leu207=) c.624T>A (p.Leu208=) c.669T>A (p.Leu223=) c.666T>A (p.Leu222=) | |
4 | g.121854802A>C | CA358066172 | BBS7 | c.620T>G (p.Leu207Arg) c.623T>G (p.Leu208Arg) c.668T>G (p.Leu223Arg) c.665T>G (p.Leu222Arg) | |
4 | g.121854802A>G | CA358066174 | BBS7 | c.620T>C (p.Leu207Pro) c.623T>C (p.Leu208Pro) c.668T>C (p.Leu223Pro) c.665T>C (p.Leu222Pro) | |
4 | g.121854802A>T | CA358066175 | BBS7 | c.620T>A (p.Leu207His) c.623T>A (p.Leu208His) c.668T>A (p.Leu223His) c.665T>A (p.Leu222His) | |
4 | g.121854802_121854803delinsAG | CA1490026005 | BBS7 | c.619_620delinsCT (p.Leu207=) c.622_623delinsCT (p.Leu208=) c.667_668delinsCT (p.Leu223=) c.664_665delinsCT (p.Leu222=) | |
4 | g.121854803G>A | CA3064449 | BBS7 | c.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 |
4 | g.121854803G>C | CA358066178 | BBS7 | c.619C>G (p.Leu207Val) c.622C>G (p.Leu208Val) c.667C>G (p.Leu223Val) c.664C>G (p.Leu222Val) | gnomAD v4 |
4 | g.121854803G= | CA1490026007 | BBS7 | c.619C= (p.Leu207=) c.622C= (p.Leu208=) c.667C= (p.Leu223=) c.664C= (p.Leu222=) | |
4 | g.121854803G>T | CA358066183 | BBS7 | c.619C>A (p.Leu207Ile) c.622C>A (p.Leu208Ile) c.667C>A (p.Leu223Ile) c.664C>A (p.Leu222Ile) | |
4 | g.121854804del | CA1490026006 | BBS7 | c.619del (p.Leu207PhefsTer?) c.622del (p.Leu208PhefsTer?) c.667del (p.Leu223PhefsTer?) c.664del (p.Leu222PhefsTer?) | |
4 | g.121854804G>A | CA440922832 | BBS7 | c.618C>T (p.Asp206=) c.621C>T (p.Asp207=) c.666C>T (p.Asp222=) c.663C>T (p.Asp221=) | ClinVar dbSNP gnomAD v4 |
4 | g.121854804G>C | CA358066190 | BBS7 | c.618C>G (p.Asp206Glu) c.621C>G (p.Asp207Glu) c.666C>G (p.Asp222Glu) c.663C>G (p.Asp221Glu) | |
4 | g.121854804G= | CA1490026008 | BBS7 | c.618C= (p.Asp206=) c.621C= (p.Asp207=) c.666C= (p.Asp222=) c.663C= (p.Asp221=) | |
4 | g.121854804G>T | CA358066193 | BBS7 | c.618C>A (p.Asp206Glu) c.621C>A (p.Asp207Glu) c.666C>A (p.Asp222Glu) c.663C>A (p.Asp221Glu) | |
4 | g.121854805T>A | CA358066200 | BBS7 | c.617A>T (p.Asp206Val) c.620A>T (p.Asp207Val) c.665A>T (p.Asp222Val) c.662A>T (p.Asp221Val) | |
4 | g.121854805T>C | CA358066197 | BBS7 | c.617A>G (p.Asp206Gly) c.620A>G (p.Asp207Gly) c.665A>G (p.Asp222Gly) c.662A>G (p.Asp221Gly) | |
4 | g.121854805T>G | CA3064450 | BBS7 | c.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 |
4 | g.121854805T= | CA1490026009 | BBS7 | c.617A= (p.Asp206=) c.620A= (p.Asp207=) c.665A= (p.Asp222=) c.662A= (p.Asp221=) | |
4 | g.121854806C>A | CA358066204 | BBS7 | c.616G>T (p.Asp206Tyr) c.619G>T (p.Asp207Tyr) c.664G>T (p.Asp222Tyr) c.661G>T (p.Asp221Tyr) | gnomAD v4 |
4 | g.121854806C>G | CA358066206 | BBS7 | c.616G>C (p.Asp206His) c.619G>C (p.Asp207His) c.664G>C (p.Asp222His) c.661G>C (p.Asp221His) | |
4 | g.121854806C>T | CA358066209 | BBS7 | c.616G>A (p.Asp206Asn) c.619G>A (p.Asp207Asn) c.664G>A (p.Asp222Asn) c.661G>A (p.Asp221Asn) | |
4 | g.121854807T>A | CA358066211 | BBS7 | c.615A>T (p.Glu205Asp) c.618A>T (p.Glu206Asp) c.663A>T (p.Glu221Asp) c.660A>T (p.Glu220Asp) | |
4 | g.121854807T>C | CA440922833 | BBS7 | c.615A>G (p.Glu205=) c.618A>G (p.Glu206=) c.663A>G (p.Glu221=) c.660A>G (p.Glu220=) | |
4 | g.121854807T>G | CA358066219 | BBS7 | c.615A>C (p.Glu205Asp) c.618A>C (p.Glu206Asp) c.663A>C (p.Glu221Asp) c.660A>C (p.Glu220Asp) | |
4 | g.121854807_121854809delinsTTC | CA1490026010 | BBS7 | c.613_615delinsGAA (p.Glu205=) c.616_618delinsGAA (p.Glu206=) c.661_663delinsGAA (p.Glu221=) c.658_660delinsGAA (p.Glu220=) | |
4 | g.121854808T>A | CA358066222 | BBS7 | c.614A>T (p.Glu205Val) c.617A>T (p.Glu206Val) c.662A>T (p.Glu221Val) c.659A>T (p.Glu220Val) | |
4 | g.121854808T>C | CA358066226 | BBS7 | c.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 |
4 | g.121854808T>G | CA358066229 | BBS7 | c.614A>C (p.Glu205Ala) c.617A>C (p.Glu206Ala) c.662A>C (p.Glu221Ala) c.659A>C (p.Glu220Ala) | |
4 | g.121854808T= | CA1490026011 | BBS7 | c.614A= (p.Glu205=) c.617A= (p.Glu206=) c.662A= (p.Glu221=) c.659A= (p.Glu220=) | |
4 | g.121854810_121854811del | CA554188417 | BBS7 | c.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 |
4 | g.121854809C>A | CA358066233 | BBS7 | c.613G>T (p.Glu205Ter) c.616G>T (p.Glu206Ter) c.661G>T (p.Glu221Ter) c.658G>T (p.Glu220Ter) | |
4 | g.121854809C>G | CA358066234 | BBS7 | c.613G>C (p.Glu205Gln) c.616G>C (p.Glu206Gln) c.661G>C (p.Glu221Gln) c.658G>C (p.Glu220Gln) | |
4 | g.121854809C>T | CA358066238 | BBS7 | c.613G>A (p.Glu205Lys) c.616G>A (p.Glu206Lys) c.661G>A (p.Glu221Lys) c.658G>A (p.Glu220Lys) | |
4 | g.121854810T>A | CA440922834 | BBS7 | c.612A>T (p.Gly204=) c.615A>T (p.Gly205=) c.660A>T (p.Gly220=) c.657A>T (p.Gly219=) | |
4 | g.121854810T>C | CA440922835 | BBS7 | c.612A>G (p.Gly204=) c.615A>G (p.Gly205=) c.660A>G (p.Gly220=) c.657A>G (p.Gly219=) | |
4 | g.121854810T>G | CA440922836 | BBS7 | c.612A>C (p.Gly204=) c.615A>C (p.Gly205=) c.660A>C (p.Gly220=) c.657A>C (p.Gly219=) | |
4 | g.121854811C>A | CA358066243 | BBS7 | c.611G>T (p.Gly204Val) c.614G>T (p.Gly205Val) c.659G>T (p.Gly220Val) c.656G>T (p.Gly219Val) | |
4 | g.121854811C= | CA1490026012 | BBS7 | c.611G= (p.Gly204=) c.614G= (p.Gly205=) c.659G= (p.Gly220=) c.656G= (p.Gly219=) | |
4 | g.121854811C>G | CA358066244 | BBS7 | c.611G>C (p.Gly204Ala) c.614G>C (p.Gly205Ala) c.659G>C (p.Gly220Ala) c.656G>C (p.Gly219Ala) | COSMIC |
4 | g.121854811C>T | CA3064451 | BBS7 | c.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 |
4 | g.121854812C>A | CA358066246 | BBS7 | c.610G>T (p.Gly204Ter) c.613G>T (p.Gly205Ter) c.658G>T (p.Gly220Ter) c.655G>T (p.Gly219Ter) | |
4 | g.121854812C>G | CA358066247 | BBS7 | c.610G>C (p.Gly204Arg) c.613G>C (p.Gly205Arg) c.658G>C (p.Gly220Arg) c.655G>C (p.Gly219Arg) | gnomAD v4 |
4 | g.121854812C>T | CA358066245 | BBS7 | c.610G>A (p.Gly204Arg) c.613G>A (p.Gly205Arg) c.658G>A (p.Gly220Arg) c.655G>A (p.Gly219Arg) | gnomAD v4 |
4 | g.121854813A>C | CA440922839 | BBS7 | c.609T>G (p.Ser203=) c.612T>G (p.Ser204=) c.657T>G (p.Ser219=) c.654T>G (p.Ser218=) | |
4 | g.121854813A>G | CA440922838 | BBS7 | c.609T>C (p.Ser203=) c.612T>C (p.Ser204=) c.657T>C (p.Ser219=) c.654T>C (p.Ser218=) | gnomAD v4 |
4 | g.121854813A>T | CA440922837 | BBS7 | c.609T>A (p.Ser203=) c.612T>A (p.Ser204=) c.657T>A (p.Ser219=) c.654T>A (p.Ser218=) | |
4 | g.121854814G>A | CA358066248 | BBS7 | c.608C>T (p.Ser203Phe) c.611C>T (p.Ser204Phe) c.656C>T (p.Ser219Phe) c.653C>T (p.Ser218Phe) | dbSNP gnomAD v4 |
4 | g.121854814G>C | CA358066250 | BBS7 | c.608C>G (p.Ser203Cys) c.611C>G (p.Ser204Cys) c.656C>G (p.Ser219Cys) c.653C>G (p.Ser218Cys) | |
4 | g.121854814G= | CA1490026013 | BBS7 | c.608C= (p.Ser203=) c.611C= (p.Ser204=) c.656C= (p.Ser219=) c.653C= (p.Ser218=) | |
4 | g.121854814G>T | CA358066252 | BBS7 | c.608C>A (p.Ser203Tyr) c.611C>A (p.Ser204Tyr) c.656C>A (p.Ser219Tyr) c.653C>A (p.Ser218Tyr) | |
4 | g.121854815A>C | CA358066256 | BBS7 | c.607T>G (p.Ser203Ala) c.610T>G (p.Ser204Ala) c.655T>G (p.Ser219Ala) c.652T>G (p.Ser218Ala) | |
4 | g.121854815A>G | CA358066259 | BBS7 | c.607T>C (p.Ser203Pro) c.610T>C (p.Ser204Pro) c.655T>C (p.Ser219Pro) c.652T>C (p.Ser218Pro) | |
4 | g.121854815A>T | CA358066263 | BBS7 | c.607T>A (p.Ser203Thr) c.610T>A (p.Ser204Thr) c.655T>A (p.Ser219Thr) c.652T>A (p.Ser218Thr) | |
4 | g.121854816G>A | CA440922840 | BBS7 | c.606C>T (p.Asp202=) c.609C>T (p.Asp203=) c.654C>T (p.Asp218=) c.651C>T (p.Asp217=) | gnomAD v4 |
4 | g.121854816G>C | CA358066268 | BBS7 | c.606C>G (p.Asp202Glu) c.609C>G (p.Asp203Glu) c.654C>G (p.Asp218Glu) c.651C>G (p.Asp217Glu) | |
4 | g.121854816G>T | CA358066265 | BBS7 | c.606C>A (p.Asp202Glu) c.609C>A (p.Asp203Glu) c.654C>A (p.Asp218Glu) c.651C>A (p.Asp217Glu) | |
4 | g.121854817del | CA2671949187 | BBS7 | c.605del (p.Asp202AlafsTer?) c.608del (p.Asp203AlafsTer?) c.653del (p.Asp218AlafsTer?) c.650del (p.Asp217AlafsTer?) | gnomAD v4 |
4 | g.121854817T>A | CA358066269 | BBS7 | c.605A>T (p.Asp202Val) c.608A>T (p.Asp203Val) c.653A>T (p.Asp218Val) c.650A>T (p.Asp217Val) | |
4 | g.121854817T>C | CA358066270 | BBS7 | c.605A>G (p.Asp202Gly) c.608A>G (p.Asp203Gly) c.653A>G (p.Asp218Gly) c.650A>G (p.Asp217Gly) | |
4 | g.121854817T>G | CA358066271 | BBS7 | c.605A>C (p.Asp202Ala) c.608A>C (p.Asp203Ala) c.653A>C (p.Asp218Ala) c.650A>C (p.Asp217Ala) | |
4 | g.121854818C>A | CA358066274 | BBS7 | c.604G>T (p.Asp202Tyr) c.607G>T (p.Asp203Tyr) c.652G>T (p.Asp218Tyr) c.649G>T (p.Asp217Tyr) | gnomAD v4 |
4 | g.121854818C>G | CA358066276 | BBS7 | c.604G>C (p.Asp202His) c.607G>C (p.Asp203His) c.652G>C (p.Asp218His) c.649G>C (p.Asp217His) | |
4 | g.121854818C>T | CA358066279 | BBS7 | c.604G>A (p.Asp202Asn) c.607G>A (p.Asp203Asn) c.652G>A (p.Asp218Asn) c.649G>A (p.Asp217Asn) | |
4 | g.121854819A>C | CA440922841 | BBS7 | c.603T>G (p.Gly201=) c.606T>G (p.Gly202=) c.651T>G (p.Gly217=) c.648T>G (p.Ser216Arg) | |
4 | g.121854819A>G | CA440922842 | BBS7 | c.603T>C (p.Gly201=) c.606T>C (p.Gly202=) c.651T>C (p.Gly217=) c.648T>C (p.Ser216=) | |
4 | g.121854819A>T | CA440922843 | BBS7 | c.603T>A (p.Gly201=) c.606T>A (p.Gly202=) c.651T>A (p.Gly217=) c.648T>A (p.Ser216Arg) | |
4 | g.121854820C>A | CA358066283 | BBS7 | c.602G>T (p.Gly201Val) c.605G>T (p.Gly202Val) c.650G>T (p.Gly217Val) c.647G>T (p.Ser216Ile) | |
4 | g.121854820C= | CA1490026014 | BBS7 | c.602G= (p.Gly201=) c.605G= (p.Gly202=) c.650G= (p.Gly217=) c.647G= (p.Ser216=) | |
4 | g.121854820C>G | CA358066290 | BBS7 | c.602G>C (p.Gly201Ala) c.605G>C (p.Gly202Ala) c.650G>C (p.Gly217Ala) c.647G>C (p.Ser216Thr) | |
4 | g.121854820C>T | CA358066286 | BBS7 | c.602G>A (p.Gly201Asp) c.605G>A (p.Gly202Asp) c.650G>A (p.Gly217Asp) c.647G>A (p.Ser216Asn) | dbSNP gnomAD v4 |
4 | g.121854821C>A | CA358066294 | BBS7 | c.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) | |
4 | g.121854821C>G | CA358066307 | BBS7 | c.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) | |
4 | g.121854821C>T | CA358066309 | BBS7 | c.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) | |
4 | g.121854822T>A | CA358066313 | BBS7 | c.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 |
4 | g.121854822T>C | CA358066317 | BBS7 | c.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) | |
4 | g.121854822T>G | CA358066322 | BBS7 | c.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) | |
4 | g.121854822_121854826del | CA2763339221 | BBS7 | c.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) | |
4 | g.121854824C>A | CA2580071438 | BBS7 | c.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 |
4 | g.121854824C>G | CA2707118045 | BBS7 | c.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 |
4 | g.121854824C>T | CA2671949188 | BBS7 | c.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 |
4 | g.121854825_121854826insAGA | CA2763339222 | BBS7 | c.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) | |
4 | g.121854826T>C | CA1490026016 | BBS7 | c.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 |
4 | g.121854826T= | CA1490026015 | BBS7 | c.602-6A= (n.602-6A=) c.602-3A= (n.602-3A=) c.647-3A= (n.647-3A=) c.647-6A= (n.647-6A=) | |
4 | g.121854828T>A | CA104766728 | BBS7 | c.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 |
4 | g.121854828T>C | CA2697546888 | BBS7 | c.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 |
4 | g.121854828T>G | CA2763339226 | BBS7 | c.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) | |
4 | g.121854828T= | CA1490026017 | BBS7 | c.602-8A= (n.602-8A=) c.602-5A= (n.602-5A=) c.647-5A= (n.647-5A=) c.647-8A= (n.647-8A=) | |
4 | g.121854830A= | CA1490026018 | BBS7 | c.602-10T= (n.602-10T=) c.602-7T= (n.602-7T=) c.647-7T= (n.647-7T=) c.647-10T= (n.647-10T=) | |
4 | g.121854830A>G | CA3064452 | BBS7 | c.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 |
4 | g.121854832del | CA2763339227 | BBS7 | c.602-11del (n.602-11del) c.602-8del (n.602-8del) c.647-8del (n.647-8del) c.647-11del (n.647-11del) | |
4 | g.121854832T>G | CA2578181053 | BBS7 | c.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) | |
4 | g.121854834A= | CA1490026019 | BBS7 | c.602-14T= (n.602-14T=) c.602-11T= (n.602-11T=) c.647-11T= (n.647-11T=) c.647-14T= (n.647-14T=) | |
4 | g.121854834A>C | CA104766731 | BBS7 | c.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 |
4 | g.121854835A>T | CA2578181054 | BBS7 | c.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) | |
4 | g.121854836G>C | CA554188420 | BBS7 | c.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 |
4 | g.121854836G= | CA1490026020 | BBS7 | c.602-16C= (n.602-16C=) c.602-13C= (n.602-13C=) c.647-13C= (n.647-13C=) c.647-16C= (n.647-16C=) | |
4 | g.121854838C>A | CA2671949189 | BBS7 | c.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 |
4 | g.121854838C= | CA1490026021 | BBS7 | c.602-18G= (n.602-18G=) c.602-15G= (n.602-15G=) c.647-15G= (n.647-15G=) c.647-18G= (n.647-18G=) | |
4 | g.121854838C>T | CA3064453 | BBS7 | c.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 |
4 | g.121854842_121854845delinsATAT | CA1490026022 | BBS7 | c.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) | |
4 | g.121854844_121854845del | CA2671949190 | BBS7 | c.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 |
4 | g.121854847_121854851del | CA2671949191 | BBS7 | c.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 |
4 | g.121854846_121854848del | CA1490026023 | BBS7 | c.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 |
4 | g.121854845T>C | CA2671949192 | BBS7 | c.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 |
4 | g.121854845T>G | CA1490026025 | BBS7 | c.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 |
4 | g.121854845T= | CA1490026024 | BBS7 | c.602-25A= (n.602-25A=) c.602-22A= (n.602-22A=) c.647-22A= (n.647-22A=) c.647-25A= (n.647-25A=) | |
4 | g.121854846_121854857del | CA2763339229 | BBS7 | c.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) | |
4 | g.121854846T>A | CA2671949193 | BBS7 | c.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 |
4 | g.121854847_121854852delinsATATTT | CA1490026026 | BBS7 | c.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) | |
4 | g.121854848T>C | CA554188423 | BBS7 | c.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 |
4 | g.121854848T= | CA1490026027 | BBS7 | c.602-28A= (n.602-28A=) c.602-25A= (n.602-25A=) c.647-25A= (n.647-25A=) c.647-28A= (n.647-28A=) | |
4 | g.121854848_121854852del | CA786316357 | BBS7 | c.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 |
4 | g.121854850T>C | CA2671949194 | BBS7 | c.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 |
4 | g.121854850T>G | CA2671949195 | BBS7 | c.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 |
4 | g.121854853A= | CA1490026028 | BBS7 | c.602-33T= (n.602-33T=) c.602-30T= (n.602-30T=) c.647-30T= (n.647-30T=) c.647-33T= (n.647-33T=) | |
4 | g.121854853A>G | CA1490026029 | BBS7 | c.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 |
4 | g.121854854T>C | CA2671949196 | BBS7 | c.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 |
4 | g.121854855C>A | CA2763339231 | BBS7 | c.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) | |
4 | g.121854855C= | CA1490026030 | BBS7 | c.602-35G= (n.602-35G=) c.602-32G= (n.602-32G=) c.647-32G= (n.647-32G=) c.647-35G= (n.647-35G=) | |
4 | g.121854855C>G | CA1067454955 | BBS7 | c.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 |
4 | g.121854855C>T | CA2671949197 | BBS7 | c.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 |
4 | g.121854856C>A | CA104766732 | BBS7 | c.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 |
4 | g.121854856C= | CA1490026031 | BBS7 | c.602-36G= (n.602-36G=) c.602-33G= (n.602-33G=) c.647-33G= (n.647-33G=) c.647-36G= (n.647-36G=) | |
4 | g.121854857_121854859del | CA2763339233 | BBS7 | c.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) | |
4 | g.121854857del | CA2763339234 | BBS7 | c.602-37del (n.602-37del) c.602-34del (n.602-34del) c.647-34del (n.647-34del) c.647-37del (n.647-37del) | |
4 | g.121854858A= | CA1490026032 | BBS7 | c.602-38T= (n.602-38T=) c.602-35T= (n.602-35T=) c.647-35T= (n.647-35T=) c.647-38T= (n.647-38T=) | |
4 | g.121854858A>T | CA3064454 | BBS7 | c.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 |
4 | g.121854858_121854859insAGT | CA2763339236 | BBS7 | c.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) | |
4 | g.121854859del | CA2763339237 | BBS7 | c.602-39del (n.602-39del) c.602-36del (n.602-36del) c.647-36del (n.647-36del) c.647-39del (n.647-39del) | |
4 | g.121854859C>A | CA3064455 | BBS7 | c.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 |
4 | g.121854859C= | CA1490026033 | BBS7 | c.602-39G= (n.602-39G=) c.602-36G= (n.602-36G=) c.647-36G= (n.647-36G=) c.647-39G= (n.647-39G=) | |
4 | g.121854859C>T | CA2671949198 | BBS7 | c.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 |
4 | g.121854860A= | CA1490026034 | BBS7 | c.602-40T= (n.602-40T=) c.602-37T= (n.602-37T=) c.647-37T= (n.647-37T=) c.647-40T= (n.647-40T=) | |
4 | g.121854860A>C | CA915014590 | BBS7 | c.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 |
4 | g.121854861A= | CA1490026035 | BBS7 | c.602-41T= (n.602-41T=) c.602-38T= (n.602-38T=) c.647-38T= (n.647-38T=) c.647-41T= (n.647-41T=) | |
4 | g.121854861A>C | CA2763339238 | BBS7 | c.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) | |
4 | g.121854861A>G | CA3064456 | BBS7 | c.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 |
4 | g.121854862T>C | CA3064457 | BBS7 | c.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 |
4 | g.121854862T= | CA1490026036 | BBS7 | c.602-42A= (n.602-42A=) c.602-39A= (n.602-39A=) c.647-39A= (n.647-39A=) c.647-42A= (n.647-42A=) | |
4 | g.121854863del | CA2763339239 | BBS7 | c.602-42del (n.602-42del) c.602-39del (n.602-39del) c.647-39del (n.647-39del) c.647-42del (n.647-42del) | |
4 | g.121854862_121854863insA | CA2763339240 | BBS7 | c.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) | |
4 | g.121854863T>C | CA2763339241 | BBS7 | c.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) | |
4 | g.121854865_121854867del | CA2671949199 | BBS7 | c.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 |
4 | g.121854865G>C | CA554188429 | BBS7 | c.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 |
4 | g.121854865G= | CA1490026037 | BBS7 | c.602-45C= (n.602-45C=) c.602-42C= (n.602-42C=) c.647-42C= (n.647-42C=) c.647-45C= (n.647-45C=) | |
4 | g.121854865G>T | CA2671949200 | BBS7 | c.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 |
4 | g.121854865_121854866insAC | CA2763339242 | BBS7 | c.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) | |
4 | g.121854869T>A | CA2671949201 | BBS7 | c.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 |
4 | g.121854870C>A | CA3064458 | BBS7 | c.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 |
4 | g.121854870C= | CA1490026038 | BBS7 | c.602-50G= (n.602-50G=) c.602-47G= (n.602-47G=) c.647-47G= (n.647-47G=) c.647-50G= (n.647-50G=) | |
4 | g.121854870_121854882del | CA2763339243 | BBS7 | c.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) | |
4 | g.121854870_121854871insAG | CA2763339244 | BBS7 | c.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) | |
4 | g.121854871T>A | CA1490026040 | BBS7 | c.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 |
4 | g.121854871T>C | CA2671949202 | BBS7 | c.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 |
4 | g.121854871T>G | CA2671949203 | BBS7 | c.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 |
4 | g.121854871T= | CA1490026039 | BBS7 | c.602-51A= (n.602-51A=) c.602-48A= (n.602-48A=) c.647-48A= (n.647-48A=) c.647-51A= (n.647-51A=) | |
4 | g.121854872_121854875del | CA2763339245 | BBS7 | c.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) | |
4 | g.121854872C>A | CA2671949204 | BBS7 | c.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 |
4 | g.121854873T>C | CA2763339248 | BBS7 | c.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) | |
4 | g.121854873_121854875del | CA2763339247 | BBS7 | c.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) | |
4 | g.121854875del | CA2763339246 | BBS7 | c.602-53del (n.602-53del) c.602-50del (n.602-50del) c.647-50del (n.647-50del) c.647-53del (n.647-53del) | |
4 | g.121854873_121854874insAGTA | CA2763339249 | BBS7 | c.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) | |
4 | g.121854874T>A | CA2763339250 | BBS7 | c.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) | |
4 | g.121854874T>C | CA786316374 | BBS7 | c.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 |
4 | g.121854874T= | CA1490026041 | BBS7 | c.602-54A= (n.602-54A=) c.602-51A= (n.602-51A=) c.647-51A= (n.647-51A=) c.647-54A= (n.647-54A=) | |
4 | g.121854875T>A | CA2578181055 | BBS7 | c.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 |
4 | g.121854875T>C | CA104766756 | BBS7 | c.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 |
4 | g.121854875T>G | CA2671949205 | BBS7 | c.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 |
4 | g.121854875T= | CA1490026042 | BBS7 | c.602-55A= (n.602-55A=) c.602-52A= (n.602-52A=) c.647-52A= (n.647-52A=) c.647-55A= (n.647-55A=) | |
4 | g.121854875_121854877del | CA2763339252 | BBS7 | c.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) | |
4 | g.121854876A>C | CA2578181056 | BBS7 | c.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) | |
4 | g.121854879dup | CA2671949206 | BBS7 | c.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 |
4 | g.121854878_121854879del | CA2763339253 | BBS7 | c.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) | |
4 | g.121854877A>C | CA2763339255 | BBS7 | c.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) | |
4 | g.121854877A>G | CA2763339254 | BBS7 | c.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) | |
4 | g.121854877_121854886del | CA2763339256 | BBS7 | c.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) | |
4 | g.121854878A>G | CA2671949207 | BBS7 | c.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 |