Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.88136707delCA693103051CEP290c.381del (p.Asp128IlefsTer?)
c.381del (p.Asp128IlefsTer24)
c.381del (p.Asp128IlefsTer21)
n.608del
c.279del (p.Asp94IlefsTer?)
c.240del (p.Asp81IlefsTer21)
n.725del
 ClinVar dbSNP gnomAD v4
12g.88136706_88136707delCA2695217120CEP290c.380_381del (p.Lys127ArgfsTer2)
n.607_608del
c.278_279del (p.Lys93ArgfsTer2)
c.239_240del (p.Lys80ArgfsTer2)
n.724_725del
12g.88136705T>ACA385987413CEP290c.379A>T (p.Lys127Ter)
n.606A>T
c.277A>T (p.Lys93Ter)
c.238A>T (p.Lys80Ter)
n.723A>T
12g.88136705T>CCA385987415CEP290c.379A>G (p.Lys127Glu)
n.606A>G
c.277A>G (p.Lys93Glu)
c.238A>G (p.Lys80Glu)
n.723A>G
 dbSNP gnomAD v2
12g.88136705T>GCA6712818CEP290c.379A>C (p.Lys127Gln)
n.606A>C
c.277A>C (p.Lys93Gln)
c.238A>C (p.Lys80Gln)
n.723A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136705T=CA2052931360CEP290c.379A= (p.Lys127=)
n.606A=
c.277A= (p.Lys93=)
c.238A= (p.Lys80=)
n.723A=
12g.88136706T>ACA385987419CEP290c.378A>T (p.Gln126His)
n.605A>T
c.276A>T (p.Gln92His)
c.237A>T (p.Gln79His)
n.722A>T
12g.88136706T>CCA481054315CEP290c.378A>G (p.Gln126=)
n.605A>G
c.276A>G (p.Gln92=)
c.237A>G (p.Gln79=)
n.722A>G
 gnomAD v4
12g.88136706T>GCA385987421CEP290c.378A>C (p.Gln126His)
n.605A>C
c.276A>C (p.Gln92His)
c.237A>C (p.Gln79His)
n.722A>C
12g.88136707T>ACA6712819CEP290c.377A>T (p.Gln126Leu)
n.604A>T
c.275A>T (p.Gln92Leu)
c.236A>T (p.Gln79Leu)
n.721A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136707T>CCA385987428CEP290c.377A>G (p.Gln126Arg)
n.604A>G
c.275A>G (p.Gln92Arg)
c.236A>G (p.Gln79Arg)
n.721A>G
12g.88136707T>GCA385987423CEP290c.377A>C (p.Gln126Pro)
n.604A>C
c.275A>C (p.Gln92Pro)
c.236A>C (p.Gln79Pro)
n.721A>C
 gnomAD v4
12g.88136707T=CA2052931369CEP290c.377A= (p.Gln126=)
n.604A=
c.275A= (p.Gln92=)
c.236A= (p.Gln79=)
n.721A=
12g.88136708G>ACA385987434CEP290c.376C>T (p.Gln126Ter)
n.603C>T
c.274C>T (p.Gln92Ter)
c.235C>T (p.Gln79Ter)
n.720C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.88136708G>CCA385987436CEP290c.376C>G (p.Gln126Glu)
n.603C>G
c.274C>G (p.Gln92Glu)
c.235C>G (p.Gln79Glu)
n.720C>G
 dbSNP gnomAD v4
12g.88136708G=CA2052931374CEP290c.376C= (p.Gln126=)
n.603C=
c.274C= (p.Gln92=)
c.235C= (p.Gln79=)
n.720C=
12g.88136708G>TCA385987437CEP290c.376C>A (p.Gln126Lys)
n.603C>A
c.274C>A (p.Gln92Lys)
c.235C>A (p.Gln79Lys)
n.720C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.88136709T>ACA385987438CEP290c.375A>T (p.Glu125Asp)
n.602A>T
c.273A>T (p.Glu91Asp)
c.234A>T (p.Glu78Asp)
n.719A>T
12g.88136709T>CCA481054317CEP290c.375A>G (p.Glu125=)
n.602A>G
c.273A>G (p.Glu91=)
c.234A>G (p.Glu78=)
n.719A>G
12g.88136709T>GCA385987440CEP290c.375A>C (p.Glu125Asp)
n.602A>C
c.273A>C (p.Glu91Asp)
c.234A>C (p.Glu78Asp)
n.719A>C
12g.88136710T>ACA385987443CEP290c.374A>T (p.Glu125Val)
n.601A>T
c.272A>T (p.Glu91Val)
c.233A>T (p.Glu78Val)
n.718A>T
12g.88136710T>CCA385987445CEP290c.374A>G (p.Glu125Gly)
n.601A>G
c.272A>G (p.Glu91Gly)
c.233A>G (p.Glu78Gly)
n.718A>G
12g.88136710T>GCA385987447CEP290c.374A>C (p.Glu125Ala)
n.601A>C
c.272A>C (p.Glu91Ala)
c.233A>C (p.Glu78Ala)
n.718A>C
 dbSNP
12g.88136710T=CA2052931381CEP290c.374A= (p.Glu125=)
n.601A=
c.272A= (p.Glu91=)
c.233A= (p.Glu78=)
n.718A=
12g.88136711C>ACA385987450CEP290c.373G>T (p.Glu125Ter)
n.600G>T
c.271G>T (p.Glu91Ter)
c.232G>T (p.Glu78Ter)
n.717G>T
 ClinVar dbSNP
12g.88136711C=CA2052931389CEP290c.373G= (p.Glu125=)
n.600G=
c.271G= (p.Glu91=)
c.232G= (p.Glu78=)
n.717G=
12g.88136711C>GCA385987452CEP290c.373G>C (p.Glu125Gln)
n.600G>C
c.271G>C (p.Glu91Gln)
c.232G>C (p.Glu78Gln)
n.717G>C
12g.88136711C>TCA385987454CEP290c.373G>A (p.Glu125Lys)
n.600G>A
c.271G>A (p.Glu91Lys)
c.232G>A (p.Glu78Lys)
n.717G>A
 ClinVar gnomAD v4
12g.88136712T>ACA385987455CEP290c.372A>T (p.Leu124Phe)
n.599A>T
c.270A>T (p.Leu90Phe)
c.231A>T (p.Leu77Phe)
n.716A>T
12g.88136712T>CCA481054322CEP290c.372A>G (p.Leu124=)
n.599A>G
c.270A>G (p.Leu90=)
c.231A>G (p.Leu77=)
n.716A>G
 ClinVar dbSNP gnomAD v4
12g.88136712T>GCA385987457CEP290c.372A>C (p.Leu124Phe)
n.599A>C
c.270A>C (p.Leu90Phe)
c.231A>C (p.Leu77Phe)
n.716A>C
12g.88136712T=CA2052931397CEP290c.372A= (p.Leu124=)
n.599A=
c.270A= (p.Leu90=)
c.231A= (p.Leu77=)
n.716A=
12g.88136713A=CA2052931400CEP290c.371T= (p.Leu124=)
n.598T=
c.269T= (p.Leu90=)
c.230T= (p.Leu77=)
n.715T=
12g.88136713A>CCA385987460CEP290c.371T>G (p.Leu124Ter)
n.598T>G
c.269T>G (p.Leu90Ter)
c.230T>G (p.Leu77Ter)
n.715T>G
12g.88136713A>GCA385987462CEP290c.371T>C (p.Leu124Ser)
n.598T>C
c.269T>C (p.Leu90Ser)
c.230T>C (p.Leu77Ser)
n.715T>C
12g.88136713A>TCA385987464CEP290c.371T>A (p.Leu124Ter)
n.598T>A
c.269T>A (p.Leu90Ter)
c.230T>A (p.Leu77Ter)
n.715T>A
 dbSNP gnomAD v4
12g.88136714A>CCA385987468CEP290c.370T>G (p.Leu124Val)
n.597T>G
c.268T>G (p.Leu90Val)
c.229T>G (p.Leu77Val)
n.714T>G
12g.88136714A>GCA481054324CEP290c.370T>C (p.Leu124=)
n.597T>C
c.268T>C (p.Leu90=)
c.229T>C (p.Leu77=)
n.714T>C
12g.88136714A>TCA385987470CEP290c.370T>A (p.Leu124Ile)
n.597T>A
c.268T>A (p.Leu90Ile)
c.229T>A (p.Leu77Ile)
n.714T>A
12g.88136714_88136715delinsATCA2052931405CEP290c.369_370delinsAT (p.Gln123=)
n.596_597delinsAT
c.267_268delinsAT (p.Gln89=)
c.228_229delinsAT (p.Gln76=)
n.713_714delinsAT
12g.88136715T>ACA385987472CEP290c.369A>T (p.Gln123His)
n.596A>T
c.267A>T (p.Gln89His)
c.228A>T (p.Gln76His)
n.713A>T
12g.88136715T>CCA481054327CEP290c.369A>G (p.Gln123=)
n.596A>G
c.267A>G (p.Gln89=)
c.228A>G (p.Gln76=)
n.713A>G
 gnomAD v4
12g.88136715T>GCA385987474CEP290c.369A>C (p.Gln123His)
n.596A>C
c.267A>C (p.Gln89His)
c.228A>C (p.Gln76His)
n.713A>C
12g.88136716delCA6712820CEP290c.369del (p.Gln123HisfsTer2)
n.596del
c.267del (p.Gln89HisfsTer2)
c.228del (p.Gln76HisfsTer2)
n.713del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136716T>ACA385987478CEP290c.368A>T (p.Gln123Leu)
n.595A>T
c.266A>T (p.Gln89Leu)
c.227A>T (p.Gln76Leu)
n.712A>T
12g.88136716T>CCA385987480CEP290c.368A>G (p.Gln123Arg)
n.595A>G
c.266A>G (p.Gln89Arg)
c.227A>G (p.Gln76Arg)
n.712A>G
12g.88136716T>GCA385987482CEP290c.368A>C (p.Gln123Pro)
n.595A>C
c.266A>C (p.Gln89Pro)
c.227A>C (p.Gln76Pro)
n.712A>C
12g.88136717G>ACA6712821CEP290c.367C>T (p.Gln123Ter)
n.594C>T
c.265C>T (p.Gln89Ter)
c.226C>T (p.Gln76Ter)
n.711C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136717G>CCA385987487CEP290c.367C>G (p.Gln123Glu)
n.594C>G
c.265C>G (p.Gln89Glu)
c.226C>G (p.Gln76Glu)
n.711C>G
12g.88136717G=CA2052931417CEP290c.367C= (p.Gln123=)
n.594C=
c.265C= (p.Gln89=)
c.226C= (p.Gln76=)
n.711C=
12g.88136717G>TCA385987485CEP290c.367C>A (p.Gln123Lys)
n.594C>A
c.265C>A (p.Gln89Lys)
c.226C>A (p.Gln76Lys)
n.711C>A
12g.88136718T>ACA385987492CEP290c.366A>T (p.Lys122Asn)
n.593A>T
c.264A>T (p.Lys88Asn)
c.225A>T (p.Lys75Asn)
n.710A>T
12g.88136718T>CCA6712822CEP290c.366A>G (p.Lys122=)
n.593A>G
c.264A>G (p.Lys88=)
c.225A>G (p.Lys75=)
n.710A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136718T>GCA385987494CEP290c.366A>C (p.Lys122Asn)
n.593A>C
c.264A>C (p.Lys88Asn)
c.225A>C (p.Lys75Asn)
n.710A>C
12g.88136718T=CA2052931428CEP290c.366A= (p.Lys122=)
n.593A=
c.264A= (p.Lys88=)
c.225A= (p.Lys75=)
n.710A=
12g.88136722delCA2580617508CEP290c.366del (p.Lys122AsnfsTer3)
n.593del
c.264del (p.Lys88AsnfsTer3)
c.225del (p.Lys75AsnfsTer3)
n.710del
 ClinVar gnomAD v4
12g.88136719T>ACA385987498CEP290c.365A>T (p.Lys122Ile)
n.592A>T
c.263A>T (p.Lys88Ile)
c.224A>T (p.Lys75Ile)
n.709A>T
12g.88136719T>CCA385987503CEP290c.365A>G (p.Lys122Arg)
n.592A>G
c.263A>G (p.Lys88Arg)
c.224A>G (p.Lys75Arg)
n.709A>G
12g.88136719T>GCA385987504CEP290c.365A>C (p.Lys122Thr)
n.592A>C
c.263A>C (p.Lys88Thr)
c.224A>C (p.Lys75Thr)
n.709A>C
12g.88136720T>ACA385987506CEP290c.364A>T (p.Lys122Ter)
n.591A>T
c.262A>T (p.Lys88Ter)
c.223A>T (p.Lys75Ter)
n.708A>T
12g.88136720T>CCA385987509CEP290c.364A>G (p.Lys122Glu)
n.591A>G
c.262A>G (p.Lys88Glu)
c.223A>G (p.Lys75Glu)
n.708A>G
12g.88136720T>GCA385987510CEP290c.364A>C (p.Lys122Gln)
n.591A>C
c.262A>C (p.Lys88Gln)
c.223A>C (p.Lys75Gln)
n.708A>C
 COSMIC
12g.88136721T>ACA385987512CEP290c.363A>T (p.Glu121Asp)
n.590A>T
c.261A>T (p.Glu87Asp)
c.222A>T (p.Glu74Asp)
n.707A>T
 gnomAD v4
12g.88136721T>CCA481054335CEP290c.363A>G (p.Glu121=)
n.590A>G
c.261A>G (p.Glu87=)
c.222A>G (p.Glu74=)
n.707A>G
 gnomAD v4
12g.88136721T>GCA385987514CEP290c.363A>C (p.Glu121Asp)
n.590A>C
c.261A>C (p.Glu87Asp)
c.222A>C (p.Glu74Asp)
n.707A>C
12g.88136722T>ACA385987517CEP290c.362A>T (p.Glu121Val)
n.589A>T
c.260A>T (p.Glu87Val)
c.221A>T (p.Glu74Val)
n.706A>T
12g.88136722T>CCA385987518CEP290c.362A>G (p.Glu121Gly)
n.589A>G
c.260A>G (p.Glu87Gly)
c.221A>G (p.Glu74Gly)
n.706A>G
 ClinVar dbSNP gnomAD v4
12g.88136722T>GCA385987521CEP290c.362A>C (p.Glu121Ala)
n.589A>C
c.260A>C (p.Glu87Ala)
c.221A>C (p.Glu74Ala)
n.706A>C
 ClinVar dbSNP
12g.88136722T=CA2052931433CEP290c.362A= (p.Glu121=)
n.589A=
c.260A= (p.Glu87=)
c.221A= (p.Glu74=)
n.706A=
12g.88136723C>ACA385987523CEP290c.361G>T (p.Glu121Ter)
n.588G>T
c.259G>T (p.Glu87Ter)
c.220G>T (p.Glu74Ter)
n.705G>T
 ClinVar dbSNP
12g.88136723C>GCA385987530CEP290c.361G>C (p.Glu121Gln)
n.588G>C
c.259G>C (p.Glu87Gln)
c.220G>C (p.Glu74Gln)
n.705G>C
12g.88136723C>TCA385987527CEP290c.361G>A (p.Glu121Lys)
n.588G>A
c.259G>A (p.Glu87Lys)
c.220G>A (p.Glu74Lys)
n.705G>A
12g.88136724A>CCA481054343CEP290c.360T>G (p.Leu120=)
n.587T>G
c.258T>G (p.Leu86=)
c.219T>G (p.Leu73=)
n.704T>G
12g.88136724A>GCA481054340CEP290c.360T>C (p.Leu120=)
n.587T>C
c.258T>C (p.Leu86=)
c.219T>C (p.Leu73=)
n.704T>C
12g.88136724A>TCA481054342CEP290c.360T>A (p.Leu120=)
n.587T>A
c.258T>A (p.Leu86=)
c.219T>A (p.Leu73=)
n.704T>A
12g.88136725A>CCA385987532CEP290c.359T>G (p.Leu120Arg)
n.586T>G
c.257T>G (p.Leu86Arg)
c.218T>G (p.Leu73Arg)
n.703T>G
12g.88136725A>GCA385987535CEP290c.359T>C (p.Leu120Pro)
n.586T>C
c.257T>C (p.Leu86Pro)
c.218T>C (p.Leu73Pro)
n.703T>C
12g.88136725A>TCA385987540CEP290c.359T>A (p.Leu120His)
n.586T>A
c.257T>A (p.Leu86His)
c.218T>A (p.Leu73His)
n.703T>A
12g.88136726G>ACA385987542CEP290c.358C>T (p.Leu120Phe)
n.585C>T
c.256C>T (p.Leu86Phe)
c.217C>T (p.Leu73Phe)
n.702C>T
12g.88136726G>CCA385987544CEP290c.358C>G (p.Leu120Val)
n.585C>G
c.256C>G (p.Leu86Val)
c.217C>G (p.Leu73Val)
n.702C>G
12g.88136726G>TCA385987546CEP290c.358C>A (p.Leu120Ile)
n.585C>A
c.256C>A (p.Leu86Ile)
c.217C>A (p.Leu73Ile)
n.702C>A
12g.88136727T>ACA385987550CEP290c.357A>T (p.Gln119His)
n.584A>T
c.255A>T (p.Gln85His)
c.216A>T (p.Gln72His)
n.701A>T
12g.88136727T>CCA241165226CEP290c.357A>G (p.Gln119=)
n.584A>G
c.255A>G (p.Gln85=)
c.216A>G (p.Gln72=)
n.701A>G
 dbSNP gnomAD v4
12g.88136727T>GCA385987552CEP290c.357A>C (p.Gln119His)
n.584A>C
c.255A>C (p.Gln85His)
c.216A>C (p.Gln72His)
n.701A>C
12g.88136727T=CA2052931437CEP290c.357A= (p.Gln119=)
n.584A=
c.255A= (p.Gln85=)
c.216A= (p.Gln72=)
n.701A=
12g.88136727_88136728insGCA2523350650CEP290c.356_357insC (p.Gln119HisfsTer3)
n.583_584insC
c.254_255insC (p.Gln85HisfsTer3)
c.215_216insC (p.Gln72HisfsTer3)
n.700_701insC
12g.88136728T>ACA385987560CEP290c.356A>T (p.Gln119Leu)
n.583A>T
c.254A>T (p.Gln85Leu)
c.215A>T (p.Gln72Leu)
n.700A>T
12g.88136728T>CCA385987557CEP290c.356A>G (p.Gln119Arg)
n.583A>G
c.254A>G (p.Gln85Arg)
c.215A>G (p.Gln72Arg)
n.700A>G
12g.88136728T>GCA385987555CEP290c.356A>C (p.Gln119Pro)
n.583A>C
c.254A>C (p.Gln85Pro)
c.215A>C (p.Gln72Pro)
n.700A>C
12g.88136729G>ACA385987566CEP290c.355C>T (p.Gln119Ter)
n.582C>T
c.253C>T (p.Gln85Ter)
c.214C>T (p.Gln72Ter)
n.699C>T
 ClinVar dbSNP gnomAD v4
12g.88136729G>CCA385987562CEP290c.355C>G (p.Gln119Glu)
n.582C>G
c.253C>G (p.Gln85Glu)
c.214C>G (p.Gln72Glu)
n.699C>G
12g.88136729G>TCA385987565CEP290c.355C>A (p.Gln119Lys)
n.582C>A
c.253C>A (p.Gln85Lys)
c.214C>A (p.Gln72Lys)
n.699C>A
12g.88136730G>ACA6712823CEP290c.354C>T (p.Cys118=)
n.581C>T
c.252C>T (p.Cys84=)
c.213C>T (p.Cys71=)
n.698C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136730G>CCA385987570CEP290c.354C>G (p.Cys118Trp)
n.581C>G
c.252C>G (p.Cys84Trp)
c.213C>G (p.Cys71Trp)
n.698C>G
12g.88136730G=CA2052931444CEP290c.354C= (p.Cys118=)
n.581C=
c.252C= (p.Cys84=)
c.213C= (p.Cys71=)
n.698C=
12g.88136730G>TCA385987572CEP290c.354C>A (p.Cys118Ter)
n.581C>A
c.252C>A (p.Cys84Ter)
c.213C>A (p.Cys71Ter)
n.698C>A
12g.88136731C>ACA385987574CEP290c.353G>T (p.Cys118Phe)
n.580G>T
c.251G>T (p.Cys84Phe)
c.212G>T (p.Cys71Phe)
n.697G>T
12g.88136731C>GCA385987577CEP290c.353G>C (p.Cys118Ser)
n.580G>C
c.251G>C (p.Cys84Ser)
c.212G>C (p.Cys71Ser)
n.697G>C
12g.88136731C>TCA385987578CEP290c.353G>A (p.Cys118Tyr)
n.580G>A
c.251G>A (p.Cys84Tyr)
c.212G>A (p.Cys71Tyr)
n.697G>A
 COSMIC
12g.88136733_88136734insTTGCCAACA2695217121CEP290c.353_354insGCAATTG (p.Cys118TrpfsTer6)
n.580_581insGCAATTG
c.251_252insGCAATTG (p.Cys84TrpfsTer6)
c.212_213insGCAATTG (p.Cys71TrpfsTer6)
n.697_698insGCAATTG
12g.88136732A>CCA385987579CEP290c.352T>G (p.Cys118Gly)
n.579T>G
c.250T>G (p.Cys84Gly)
c.211T>G (p.Cys71Gly)
n.696T>G
12g.88136732A>GCA385987582CEP290c.352T>C (p.Cys118Arg)
n.579T>C
c.250T>C (p.Cys84Arg)
c.211T>C (p.Cys71Arg)
n.696T>C
12g.88136732A>TCA385987585CEP290c.352T>A (p.Cys118Ser)
n.579T>A
c.250T>A (p.Cys84Ser)
c.211T>A (p.Cys71Ser)
n.696T>A
12g.88136733A=CA2052931450CEP290c.351T= (p.Ile117=)
n.578T=
c.249T= (p.Ile83=)
c.210T= (p.Ile70=)
n.695T=
12g.88136733A>CCA385987588CEP290c.351T>G (p.Ile117Met)
n.578T>G
c.249T>G (p.Ile83Met)
c.210T>G (p.Ile70Met)
n.695T>G
12g.88136733A>GCA6712824CEP290c.351T>C (p.Ile117=)
n.578T>C
c.249T>C (p.Ile83=)
c.210T>C (p.Ile70=)
n.695T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136733A>TCA481054353CEP290c.351T>A (p.Ile117=)
n.578T>A
c.249T>A (p.Ile83=)
c.210T>A (p.Ile70=)
n.695T>A
12g.88136734A>CCA385987591CEP290c.350T>G (p.Ile117Ser)
n.577T>G
c.248T>G (p.Ile83Ser)
c.209T>G (p.Ile70Ser)
n.694T>G
12g.88136734A>GCA385987594CEP290c.350T>C (p.Ile117Thr)
n.577T>C
c.248T>C (p.Ile83Thr)
c.209T>C (p.Ile70Thr)
n.694T>C
12g.88136734A>TCA385987595CEP290c.350T>A (p.Ile117Asn)
n.577T>A
c.248T>A (p.Ile83Asn)
c.209T>A (p.Ile70Asn)
n.694T>A
12g.88136734_88136735insATCTCGTCCACA2831089466CEP290c.350_351insGGACGAGATT (p.Ile117MetfsTer8)
n.577_578insGGACGAGATT
c.248_249insGGACGAGATT (p.Ile83MetfsTer8)
c.209_210insGGACGAGATT (p.Ile70MetfsTer8)
n.694_695insGGACGAGATT
12g.88136734_88136735insATCTCGTCCATTCA2541506722CEP290c.349_350insAATGGACGAGAT (p.Ile117delinsLysTrpThrArgPhe)
n.576_577insAATGGACGAGAT
c.247_248insAATGGACGAGAT (p.Ile83delinsLysTrpThrArgPhe)
c.208_209insAATGGACGAGAT (p.Ile70delinsLysTrpThrArgPhe)
n.693_694insAATGGACGAGAT
12g.88136735T>ACA385987596CEP290c.349A>T (p.Ile117Phe)
n.576A>T
c.247A>T (p.Ile83Phe)
c.208A>T (p.Ile70Phe)
n.693A>T
12g.88136735T>CCA385987597CEP290c.349A>G (p.Ile117Val)
n.576A>G
c.247A>G (p.Ile83Val)
c.208A>G (p.Ile70Val)
n.693A>G
12g.88136735T>GCA385987599CEP290c.349A>C (p.Ile117Leu)
n.576A>C
c.247A>C (p.Ile83Leu)
c.208A>C (p.Ile70Leu)
n.693A>C
12g.88136737delCA2620110416CEP290c.349del (p.Ile117PhefsTer8)
n.576del
c.247del (p.Ile83PhefsTer8)
c.208del (p.Ile70PhefsTer8)
n.693del
 gnomAD v4
12g.88136736T>ACA385987601CEP290c.348A>T (p.Glu116Asp)
n.575A>T
c.246A>T (p.Glu82Asp)
c.207A>T (p.Glu69Asp)
n.692A>T
12g.88136736T>CCA481054354CEP290c.348A>G (p.Glu116=)
n.575A>G
c.246A>G (p.Glu82=)
c.207A>G (p.Glu69=)
n.692A>G
 ClinVar
12g.88136736T>GCA385987603CEP290c.348A>C (p.Glu116Asp)
n.575A>C
c.246A>C (p.Glu82Asp)
c.207A>C (p.Glu69Asp)
n.692A>C
12g.88136737T>ACA385987606CEP290c.347A>T (p.Glu116Val)
n.574A>T
c.245A>T (p.Glu82Val)
c.206A>T (p.Glu69Val)
n.691A>T
12g.88136737T>CCA385987608CEP290c.347A>G (p.Glu116Gly)
n.574A>G
c.245A>G (p.Glu82Gly)
c.206A>G (p.Glu69Gly)
n.691A>G
12g.88136737T>GCA385987610CEP290c.347A>C (p.Glu116Ala)
n.574A>C
c.245A>C (p.Glu82Ala)
c.206A>C (p.Glu69Ala)
n.691A>C
12g.88136737_88136738insTTTACCGCACTTTGTTTTGCGACGGCA2831089467CEP290c.346_347insCCGTCGCAAAACAAAGTGCGGTAAA (p.Glu116AlafsTer14)
n.573_574insCCGTCGCAAAACAAAGTGCGGTAAA
c.244_245insCCGTCGCAAAACAAAGTGCGGTAAA (p.Glu82AlafsTer14)
c.205_206insCCGTCGCAAAACAAAGTGCGGTAAA (p.Glu69AlafsTer14)
n.690_691insCCGTCGCAAAACAAAGTGCGGTAAA
12g.88136738C>ACA385987615CEP290c.346G>T (p.Glu116Ter)
n.573G>T
c.244G>T (p.Glu82Ter)
c.205G>T (p.Glu69Ter)
n.690G>T
12g.88136738C>GCA385987616CEP290c.346G>C (p.Glu116Gln)
n.573G>C
c.244G>C (p.Glu82Gln)
c.205G>C (p.Glu69Gln)
n.690G>C
12g.88136738C>TCA385987613CEP290c.346G>A (p.Glu116Lys)
n.573G>A
c.244G>A (p.Glu82Lys)
c.205G>A (p.Glu69Lys)
n.690G>A
12g.88136739A>CCA385987617CEP290c.345T>G (p.Asn115Lys)
n.572T>G
c.243T>G (p.Asn81Lys)
c.204T>G (p.Asn68Lys)
n.689T>G
12g.88136739A>GCA481054357CEP290c.345T>C (p.Asn115=)
n.572T>C
c.243T>C (p.Asn81=)
c.204T>C (p.Asn68=)
n.689T>C
12g.88136739A>TCA385987618CEP290c.345T>A (p.Asn115Lys)
n.572T>A
c.243T>A (p.Asn81Lys)
c.204T>A (p.Asn68Lys)
n.689T>A
 ClinVar
12g.88136739_88136740insCCGCACCA2545988178CEP290c.344_345insGTGCGG (p.Asn115delinsLysCysGly)
n.571_572insGTGCGG
c.242_243insGTGCGG (p.Asn81delinsLysCysGly)
c.203_204insGTGCGG (p.Asn68delinsLysCysGly)
n.688_689insGTGCGG
12g.88136740T>ACA385987619CEP290c.344A>T (p.Asn115Ile)
n.571A>T
c.242A>T (p.Asn81Ile)
c.203A>T (p.Asn68Ile)
n.688A>T
12g.88136740T>CCA385987620CEP290c.344A>G (p.Asn115Ser)
n.571A>G
c.242A>G (p.Asn81Ser)
c.203A>G (p.Asn68Ser)
n.688A>G
12g.88136740T>GCA385987622CEP290c.344A>C (p.Asn115Thr)
n.571A>C
c.242A>C (p.Asn81Thr)
c.203A>C (p.Asn68Thr)
n.688A>C
12g.88136740_88136741insATTGCA2831089468CEP290c.343_344insCAAT (p.Asn115ThrfsTer3)
n.570_571insCAAT
c.241_242insCAAT (p.Asn81ThrfsTer3)
c.202_203insCAAT (p.Asn68ThrfsTer3)
n.687_688insCAAT
12g.88136741T>ACA385987625CEP290c.343A>T (p.Asn115Tyr)
n.570A>T
c.241A>T (p.Asn81Tyr)
c.202A>T (p.Asn68Tyr)
n.687A>T
12g.88136741T>CCA246815CEP290c.343A>G (p.Asn115Asp)
n.570A>G
c.241A>G (p.Asn81Asp)
c.202A>G (p.Asn68Asp)
n.687A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136741T>GCA385987628CEP290c.343A>C (p.Asn115His)
n.570A>C
c.241A>C (p.Asn81His)
c.202A>C (p.Asn68His)
n.687A>C
12g.88136741T=CA2052931455CEP290c.343A= (p.Asn115=)
n.570A=
c.241A= (p.Asn81=)
c.202A= (p.Asn68=)
n.687A=
12g.88136741_88136742insTGTTTTGCGCA2508039253CEP290c.342_343insCGCAAAACA (p.Arg114_Asn115insArgLysThr)
n.569_570insCGCAAAACA
c.240_241insCGCAAAACA (p.Arg80_Asn81insArgLysThr)
c.201_202insCGCAAAACA (p.Arg67_Asn68insArgLysThr)
n.686_687insCGCAAAACA
12g.88136742A=CA2052931460CEP290c.342T= (p.Arg114=)
n.569T=
c.240T= (p.Arg80=)
c.201T= (p.Arg67=)
n.686T=
12g.88136742A>CCA481054358CEP290c.342T>G (p.Arg114=)
n.569T>G
c.240T>G (p.Arg80=)
c.201T>G (p.Arg67=)
n.686T>G
12g.88136742A>GCA481054359CEP290c.342T>C (p.Arg114=)
n.569T>C
c.240T>C (p.Arg80=)
c.201T>C (p.Arg67=)
n.686T>C
12g.88136742A>TCA6712825CEP290c.342T>A (p.Arg114=)
n.569T>A
c.240T>A (p.Arg80=)
c.201T>A (p.Arg67=)
n.686T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136743C>ACA385987630CEP290c.341G>T (p.Arg114Leu)
n.568G>T
c.239G>T (p.Arg80Leu)
c.200G>T (p.Arg67Leu)
n.685G>T
12g.88136743C=CA2052931466CEP290c.341G= (p.Arg114=)
n.568G=
c.239G= (p.Arg80=)
c.200G= (p.Arg67=)
n.685G=
12g.88136743C>GCA385987631CEP290c.341G>C (p.Arg114Pro)
n.568G>C
c.239G>C (p.Arg80Pro)
c.200G>C (p.Arg67Pro)
n.685G>C
 dbSNP gnomAD v3 gnomAD v4
12g.88136743C>TCA246817CEP290c.341G>A (p.Arg114His)
n.568G>A
c.239G>A (p.Arg80His)
c.200G>A (p.Arg67His)
n.685G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.88136744_88136745insATTGCTGTTTCGCA2831089469CEP290c.341_342insAAACAGCAATCG (p.Arg114_Asn115insAsnSerAsnArg)
n.568_569insAAACAGCAATCG
c.239_240insAAACAGCAATCG (p.Arg80_Asn81insAsnSerAsnArg)
c.200_201insAAACAGCAATCG (p.Arg67_Asn68insAsnSerAsnArg)
n.685_686insAAACAGCAATCG
12g.88136744G>ACA6712826CEP290c.340C>T (p.Arg114Cys)
n.567C>T
c.238C>T (p.Arg80Cys)
c.199C>T (p.Arg67Cys)
n.684C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.88136744G>CCA385987638CEP290c.340C>G (p.Arg114Gly)
n.567C>G
c.238C>G (p.Arg80Gly)
c.199C>G (p.Arg67Gly)
n.684C>G
12g.88136744G=CA2052931481CEP290c.340C= (p.Arg114=)
n.567C=
c.238C= (p.Arg80=)
c.199C= (p.Arg67=)
n.684C=
12g.88136744G>TCA385987636CEP290c.340C>A (p.Arg114Ser)
n.567C>A
c.238C>A (p.Arg80Ser)
c.199C>A (p.Arg67Ser)
n.684C>A
 dbSNP
12g.88136744_88136745insGCATATTGCA2528190266CEP290c.340_341insAATATGCC (p.Arg114GlnfsTer14)
n.567_568insAATATGCC
c.238_239insAATATGCC (p.Arg80GlnfsTer14)
c.199_200insAATATGCC (p.Arg67GlnfsTer14)
n.684_685insAATATGCC
12g.88136745T>ACA385987641CEP290c.339A>T (p.Leu113Phe)
n.566A>T
c.237A>T (p.Leu79Phe)
c.198A>T (p.Leu66Phe)
n.683A>T
12g.88136745T>CCA481054364CEP290c.339A>G (p.Leu113=)
n.566A>G
c.237A>G (p.Leu79=)
c.198A>G (p.Leu66=)
n.683A>G
12g.88136745T>GCA385987642CEP290c.339A>C (p.Leu113Phe)
n.566A>C
c.237A>C (p.Leu79Phe)
c.198A>C (p.Leu66Phe)
n.683A>C
12g.88136746A=CA2052931488CEP290c.338T= (p.Leu113=)
n.565T=
c.236T= (p.Leu79=)
c.197T= (p.Leu66=)
n.682T=
12g.88136746A>CCA385987644CEP290c.338T>G (p.Leu113Ter)
n.565T>G
c.236T>G (p.Leu79Ter)
c.197T>G (p.Leu66Ter)
n.682T>G
12g.88136746A>GCA385987647CEP290c.338T>C (p.Leu113Ser)
n.565T>C
c.236T>C (p.Leu79Ser)
c.197T>C (p.Leu66Ser)
n.682T>C
12g.88136746A>TCA385987649CEP290c.338T>A (p.Leu113Ter)
n.565T>A
c.236T>A (p.Leu79Ter)
c.197T>A (p.Leu66Ter)
n.682T>A
 ClinVar dbSNP
12g.88136747A>CCA385987652CEP290c.337T>G (p.Leu113Val)
n.564T>G
c.235T>G (p.Leu79Val)
c.196T>G (p.Leu66Val)
n.681T>G
12g.88136747A>GCA481054365CEP290c.337T>C (p.Leu113=)
n.564T>C
c.235T>C (p.Leu79=)
c.196T>C (p.Leu66=)
n.681T>C
12g.88136747A>TCA385987658CEP290c.337T>A (p.Leu113Ile)
n.564T>A
c.235T>A (p.Leu79Ile)
c.196T>A (p.Leu66Ile)
n.681T>A
12g.88136747_88136751delCA2562961629CEP290c.333_337del (p.Phe112ThrfsTer2)
n.560_564del
c.231_235del (p.Phe78ThrfsTer2)
c.192_196del (p.Phe65ThrfsTer2)
n.677_681del
12g.88136748A>CCA385987659CEP290c.336T>G (p.Phe112Leu)
n.563T>G
c.234T>G (p.Phe78Leu)
c.195T>G (p.Phe65Leu)
n.680T>G
12g.88136748A>GCA481054367CEP290c.336T>C (p.Phe112=)
n.563T>C
c.234T>C (p.Phe78=)
c.195T>C (p.Phe65=)
n.680T>C
12g.88136748A>TCA385987661CEP290c.336T>A (p.Phe112Leu)
n.563T>A
c.234T>A (p.Phe78Leu)
c.195T>A (p.Phe65Leu)
n.680T>A
12g.88136749A>CCA385987664CEP290c.335T>G (p.Phe112Cys)
n.562T>G
c.233T>G (p.Phe78Cys)
c.194T>G (p.Phe65Cys)
n.679T>G
12g.88136749A>GCA385987668CEP290c.335T>C (p.Phe112Ser)
n.562T>C
c.233T>C (p.Phe78Ser)
c.194T>C (p.Phe65Ser)
n.679T>C
12g.88136749A>TCA385987666CEP290c.335T>A (p.Phe112Tyr)
n.562T>A
c.233T>A (p.Phe78Tyr)
c.194T>A (p.Phe65Tyr)
n.679T>A
12g.88136750A>CCA385987671CEP290c.334T>G (p.Phe112Val)
n.561T>G
c.232T>G (p.Phe78Val)
c.193T>G (p.Phe65Val)
n.678T>G
12g.88136750A>GCA385987673CEP290c.334T>C (p.Phe112Leu)
n.561T>C
c.232T>C (p.Phe78Leu)
c.193T>C (p.Phe65Leu)
n.678T>C
12g.88136750A>TCA385987675CEP290c.334T>A (p.Phe112Ile)
n.561T>A
c.232T>A (p.Phe78Ile)
c.193T>A (p.Phe65Ile)
n.678T>A
12g.88136751C>ACA481054370CEP290c.333G>T (p.Arg111=)
n.560G>T
c.231G>T (p.Arg77=)
c.192G>T (p.Arg64=)
n.677G>T
 ClinVar dbSNP
12g.88136751C>GCA481054372CEP290c.333G>C (p.Arg111=)
n.560G>C
c.231G>C (p.Arg77=)
c.192G>C (p.Arg64=)
n.677G>C
12g.88136751C>TCA481054371CEP290c.333G>A (p.Arg111=)
n.560G>A
c.231G>A (p.Arg77=)
c.192G>A (p.Arg64=)
n.677G>A
12g.88136752C>ACA385987678CEP290c.332G>T (p.Arg111Leu)
n.559G>T
c.230G>T (p.Arg77Leu)
c.191G>T (p.Arg64Leu)
n.676G>T
12g.88136752C=CA2052931498CEP290c.332G= (p.Arg111=)
n.559G=
c.230G= (p.Arg77=)
c.191G= (p.Arg64=)
n.676G=
12g.88136752C>GCA385987680CEP290c.332G>C (p.Arg111Pro)
n.559G>C
c.230G>C (p.Arg77Pro)
c.191G>C (p.Arg64Pro)
n.676G>C
12g.88136752C>TCA6712827CEP290c.332G>A (p.Arg111Gln)
n.559G>A
c.230G>A (p.Arg77Gln)
c.191G>A (p.Arg64Gln)
n.676G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136753G>ACA241165275CEP290c.331C>T (p.Arg111Trp)
n.558C>T
c.229C>T (p.Arg77Trp)
c.190C>T (p.Arg64Trp)
n.675C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.88136753G>CCA385987687CEP290c.331C>G (p.Arg111Gly)
n.558C>G
c.229C>G (p.Arg77Gly)
c.190C>G (p.Arg64Gly)
n.675C>G
12g.88136753G=CA2052931510CEP290c.331C= (p.Arg111=)
n.558C=
c.229C= (p.Arg77=)
c.190C= (p.Arg64=)
n.675C=
12g.88136753G>TCA481054374CEP290c.331C>A (p.Arg111=)
n.558C>A
c.229C>A (p.Arg77=)
c.190C>A (p.Arg64=)
n.675C>A
12g.88136754A>CCA481054375CEP290c.330T>G (p.Thr110=)
n.557T>G
c.228T>G (p.Thr76=)
c.189T>G (p.Thr63=)
n.674T>G
12g.88136754A>GCA481054377CEP290c.330T>C (p.Thr110=)
n.557T>C
c.228T>C (p.Thr76=)
c.189T>C (p.Thr63=)
n.674T>C
12g.88136754A>TCA481054378CEP290c.330T>A (p.Thr110=)
n.557T>A
c.228T>A (p.Thr76=)
c.189T>A (p.Thr63=)
n.674T>A
12g.88136754_88136755insTTGCTCA2572758562CEP290c.329_330insAGCAA (p.Arg111AlafsTer16)
n.556_557insAGCAA
c.227_228insAGCAA (p.Arg77AlafsTer16)
c.188_189insAGCAA (p.Arg64AlafsTer16)
n.673_674insAGCAA
12g.88136755G>ACA6712828CEP290c.329C>T (p.Thr110Ile)
n.556C>T
c.227C>T (p.Thr76Ile)
c.188C>T (p.Thr63Ile)
n.673C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136755G>CCA385987689CEP290c.329C>G (p.Thr110Ser)
n.556C>G
c.227C>G (p.Thr76Ser)
c.188C>G (p.Thr63Ser)
n.673C>G
12g.88136755G=CA2052931520CEP290c.329C= (p.Thr110=)
n.556C=
c.227C= (p.Thr76=)
c.188C= (p.Thr63=)
n.673C=
12g.88136755G>TCA385987691CEP290c.329C>A (p.Thr110Asn)
n.556C>A
c.227C>A (p.Thr76Asn)
c.188C>A (p.Thr63Asn)
n.673C>A
12g.88136756T>ACA385987693CEP290c.328A>T (p.Thr110Ser)
n.555A>T
c.226A>T (p.Thr76Ser)
c.187A>T (p.Thr63Ser)
n.672A>T
12g.88136756T>CCA385987696CEP290c.328A>G (p.Thr110Ala)
n.555A>G
c.226A>G (p.Thr76Ala)
c.187A>G (p.Thr63Ala)
n.672A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.88136756T>GCA6712829CEP290c.328A>C (p.Thr110Pro)
n.555A>C
c.226A>C (p.Thr76Pro)
c.187A>C (p.Thr63Pro)
n.672A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136756T=CA2052931524CEP290c.328A= (p.Thr110=)
n.555A=
c.226A= (p.Thr76=)
c.187A= (p.Thr63=)
n.672A=
12g.88136757A>CCA385987697CEP290c.327T>G (p.Asp109Glu)
n.554T>G
c.225T>G (p.Asp75Glu)
c.186T>G (p.Asp62Glu)
n.671T>G
 gnomAD v4
12g.88136757A>GCA481054383CEP290c.327T>C (p.Asp109=)
n.554T>C
c.225T>C (p.Asp75=)
c.186T>C (p.Asp62=)
n.671T>C
12g.88136757A>TCA385987698CEP290c.327T>A (p.Asp109Glu)
n.554T>A
c.225T>A (p.Asp75Glu)
c.186T>A (p.Asp62Glu)
n.671T>A
 gnomAD v4
12g.88136758T>ACA385987699CEP290c.326A>T (p.Asp109Val)
n.553A>T
c.224A>T (p.Asp75Val)
c.185A>T (p.Asp62Val)
n.670A>T
12g.88136758T>CCA385987700CEP290c.326A>G (p.Asp109Gly)
n.553A>G
c.224A>G (p.Asp75Gly)
c.185A>G (p.Asp62Gly)
n.670A>G
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.88136758T>GCA385987702CEP290c.326A>C (p.Asp109Ala)
n.553A>C
c.224A>C (p.Asp75Ala)
c.185A>C (p.Asp62Ala)
n.670A>C
12g.88136758T=CA2052931527CEP290c.326A= (p.Asp109=)
n.553A=
c.224A= (p.Asp75=)
c.185A= (p.Asp62=)
n.670A=
12g.88136758_88136759insGGCA2052931531CEP290c.325_326insCC (p.Asp109AlafsTer17)
n.552_553insCC
c.223_224insCC (p.Asp75AlafsTer17)
c.184_185insCC (p.Asp62AlafsTer17)
n.669_670insCC
 dbSNP
12g.88136759C>ACA385987703CEP290c.325G>T (p.Asp109Tyr)
n.552G>T
c.223G>T (p.Asp75Tyr)
c.184G>T (p.Asp62Tyr)
n.669G>T
12g.88136759C>GCA385987705CEP290c.325G>C (p.Asp109His)
n.552G>C
c.223G>C (p.Asp75His)
c.184G>C (p.Asp62His)
n.669G>C
12g.88136759C>TCA385987707CEP290c.325G>A (p.Asp109Asn)
n.552G>A
c.223G>A (p.Asp75Asn)
c.184G>A (p.Asp62Asn)
n.669G>A
12g.88136759_88136760insATAAATATAGTTTTTGTTTCTGGCTCA2512508875CEP290c.324_325insAGCCAGAAACAAAAACTATATTTAT (p.Asp109SerfsTer9)
n.551_552insAGCCAGAAACAAAAACTATATTTAT
c.222_223insAGCCAGAAACAAAAACTATATTTAT (p.Asp75SerfsTer9)
c.183_184insAGCCAGAAACAAAAACTATATTTAT (p.Asp62SerfsTer9)
n.668_669insAGCCAGAAACAAAAACTATATTTAT
12g.88136760T>ACA481054387CEP290c.324A>T (p.Arg108=)
n.551A>T
c.222A>T (p.Arg74=)
c.183A>T (p.Arg61=)
n.668A>T
12g.88136760T>CCA481054390CEP290c.324A>G (p.Arg108=)
n.551A>G
c.222A>G (p.Arg74=)
c.183A>G (p.Arg61=)
n.668A>G
12g.88136760T>GCA481054391CEP290c.324A>C (p.Arg108=)
n.551A>C
c.222A>C (p.Arg74=)
c.183A>C (p.Arg61=)
n.668A>C
12g.88136761C>ACA385987709CEP290c.323G>T (p.Arg108Leu)
n.550G>T
c.221G>T (p.Arg74Leu)
c.182G>T (p.Arg61Leu)
n.667G>T
12g.88136761C=CA2052931543CEP290c.323G= (p.Arg108=)
n.550G=
c.221G= (p.Arg74=)
c.182G= (p.Arg61=)
n.667G=
12g.88136761C>GCA385987712CEP290c.323G>C (p.Arg108Pro)
n.550G>C
c.221G>C (p.Arg74Pro)
c.182G>C (p.Arg61Pro)
n.667G>C
12g.88136761C>TCA6712830CEP290c.323G>A (p.Arg108Gln)
n.550G>A
c.221G>A (p.Arg74Gln)
c.182G>A (p.Arg61Gln)
n.667G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.88136761_88136762insAGCACA2052931549CEP290c.322_323insTGCT (p.Arg108LeufsTer9)
n.549_550insTGCT
c.220_221insTGCT (p.Arg74LeufsTer9)
c.181_182insTGCT (p.Arg61LeufsTer9)
n.666_667insTGCT
 dbSNP
12g.88136762G>ACA385987715CEP290c.322C>T (p.Arg108Ter)
n.549C>T
c.220C>T (p.Arg74Ter)
c.181C>T (p.Arg61Ter)
n.666C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.88136762G>CCA385987716CEP290c.322C>G (p.Arg108Gly)
n.549C>G
c.220C>G (p.Arg74Gly)
c.181C>G (p.Arg61Gly)
n.666C>G
12g.88136762G=CA2052931552CEP290c.322C= (p.Arg108=)
n.549C=
c.220C= (p.Arg74=)
c.181C= (p.Arg61=)
n.666C=
12g.88136762G>TCA481054392CEP290c.322C>A (p.Arg108=)
n.549C>A
c.220C>A (p.Arg74=)
c.181C>A (p.Arg61=)
n.666C>A
 ClinVar
12g.88136763T>ACA481054394CEP290c.321A>T (p.Gly107=)
n.548A>T
c.219A>T (p.Gly73=)
c.180A>T (p.Gly60=)
n.665A>T
 ClinVar gnomAD v4
12g.88136763T>CCA481054398CEP290c.321A>G (p.Gly107=)
n.548A>G
c.219A>G (p.Gly73=)
c.180A>G (p.Gly60=)
n.665A>G
 gnomAD v4
12g.88136763T>GCA481054396CEP290c.321A>C (p.Gly107=)
n.548A>C
c.219A>C (p.Gly73=)
c.180A>C (p.Gly60=)
n.665A>C
12g.88136763_88136767delinsTCCACCA2052931565CEP290c.317_321delinsGTGGA (p.Gly106=)
n.544_548delinsGTGGA
c.215_219delinsGTGGA (p.Gly72=)
c.176_180delinsGTGGA (p.Gly59=)
n.661_665delinsGTGGA
12g.88136764C>ACA385987719CEP290c.320G>T (p.Gly107Val)
n.547G>T
c.218G>T (p.Gly73Val)
c.179G>T (p.Gly60Val)
n.664G>T
12g.88136764C>GCA385987738CEP290c.320G>C (p.Gly107Ala)
n.547G>C
c.218G>C (p.Gly73Ala)
c.179G>C (p.Gly60Ala)
n.664G>C
12g.88136764C>TCA385987721CEP290c.320G>A (p.Gly107Glu)
n.547G>A
c.218G>A (p.Gly73Glu)
c.179G>A (p.Gly60Glu)
n.664G>A
12g.88136765_88136768delCA2052931568CEP290c.317_320del (p.Gly106AspfsTer18)
n.544_547del
c.215_218del (p.Gly72AspfsTer18)
c.176_179del (p.Gly59AspfsTer18)
n.661_664del
 dbSNP
12g.88136765C>ACA385987741CEP290c.319G>T (p.Gly107Ter)
n.546G>T
c.217G>T (p.Gly73Ter)
c.178G>T (p.Gly60Ter)
n.663G>T
12g.88136765C>GCA385987743CEP290c.319G>C (p.Gly107Arg)
n.546G>C
c.217G>C (p.Gly73Arg)
c.178G>C (p.Gly60Arg)
n.663G>C
12g.88136765C>TCA385987745CEP290c.319G>A (p.Gly107Arg)
n.546G>A
c.217G>A (p.Gly73Arg)
c.178G>A (p.Gly60Arg)
n.663G>A
12g.88136766A>CCA481054400CEP290c.318T>G (p.Gly106=)
n.545T>G
c.216T>G (p.Gly72=)
c.177T>G (p.Gly59=)
n.662T>G
 ClinVar dbSNP
12g.88136766A>GCA481054401CEP290c.318T>C (p.Gly106=)
n.545T>C
c.216T>C (p.Gly72=)
c.177T>C (p.Gly59=)
n.662T>C
12g.88136766A>TCA481054402CEP290c.318T>A (p.Gly106=)
n.545T>A
c.216T>A (p.Gly72=)
c.177T>A (p.Gly59=)
n.662T>A
12g.88136766_88136767insAATTGTTAATTAATTGTTCTTGCTCA2533620862CEP290c.317_318insAGCAAGAACAATTAATTAACAATT (p.Gly107AlafsTer6)
n.544_545insAGCAAGAACAATTAATTAACAATT
c.215_216insAGCAAGAACAATTAATTAACAATT (p.Gly73AlafsTer6)
c.176_177insAGCAAGAACAATTAATTAACAATT (p.Gly60AlafsTer6)
n.661_662insAGCAAGAACAATTAATTAACAATT
12g.88136767C>ACA385987747CEP290c.317G>T (p.Gly106Val)
n.544G>T
c.215G>T (p.Gly72Val)
c.176G>T (p.Gly59Val)
n.661G>T
12g.88136767C>GCA385987749CEP290c.317G>C (p.Gly106Ala)
n.544G>C
c.215G>C (p.Gly72Ala)
c.176G>C (p.Gly59Ala)
n.661G>C
12g.88136767C>TCA385987751CEP290c.317G>A (p.Gly106Asp)
n.544G>A
c.215G>A (p.Gly72Asp)
c.176G>A (p.Gly59Asp)
n.661G>A
12g.88136768C>ACA385987753CEP290c.316G>T (p.Gly106Cys)
n.543G>T
c.214G>T (p.Gly72Cys)
c.175G>T (p.Gly59Cys)
n.660G>T
12g.88136768C>GCA385987756CEP290c.316G>C (p.Gly106Arg)
n.543G>C
c.214G>C (p.Gly72Arg)
c.175G>C (p.Gly59Arg)
n.660G>C
12g.88136768C>TCA385987758CEP290c.316G>A (p.Gly106Ser)
n.543G>A
c.214G>A (p.Gly72Ser)
c.175G>A (p.Gly59Ser)
n.660G>A
12g.88136769T>ACA481054405CEP290c.315A>T (p.Ala105=)
n.542A>T
c.213A>T (p.Ala71=)
c.174A>T (p.Ala58=)
n.659A>T
12g.88136769T>CCA481054407CEP290c.315A>G (p.Ala105=)
n.542A>G
c.213A>G (p.Ala71=)
c.174A>G (p.Ala58=)
n.659A>G
 ClinVar
12g.88136769T>GCA481054406CEP290c.315A>C (p.Ala105=)
n.542A>C
c.213A>C (p.Ala71=)
c.174A>C (p.Ala58=)
n.659A>C
12g.88136770G>ACA385987760CEP290c.314C>T (p.Ala105Val)
n.541C>T
c.212C>T (p.Ala71Val)
c.173C>T (p.Ala58Val)
n.658C>T
 dbSNP COSMIC
12g.88136770G>CCA385987762CEP290c.314C>G (p.Ala105Gly)
n.541C>G
c.212C>G (p.Ala71Gly)
c.173C>G (p.Ala58Gly)
n.658C>G
12g.88136770G>TCA385987764CEP290c.314C>A (p.Ala105Glu)
n.541C>A
c.212C>A (p.Ala71Glu)
c.173C>A (p.Ala58Glu)
n.658C>A
12g.88136771C>ACA385987767CEP290c.313G>T (p.Ala105Ser)
n.540G>T
c.211G>T (p.Ala71Ser)
c.172G>T (p.Ala58Ser)
n.657G>T
12g.88136771C>GCA385987771CEP290c.313G>C (p.Ala105Pro)
n.540G>C
c.211G>C (p.Ala71Pro)
c.172G>C (p.Ala58Pro)
n.657G>C
12g.88136771C>TCA385987770CEP290c.313G>A (p.Ala105Thr)
n.540G>A
c.211G>A (p.Ala71Thr)
c.172G>A (p.Ala58Thr)
n.657G>A
12g.88136772A>CCA481054409CEP290c.312T>G (p.Ser104=)
n.539T>G
c.210T>G (p.Ser70=)
c.171T>G (p.Ser57=)
n.656T>G
 ClinVar dbSNP gnomAD v4
12g.88136772A>GCA481054410CEP290c.312T>C (p.Ser104=)
n.539T>C
c.210T>C (p.Ser70=)
c.171T>C (p.Ser57=)
n.656T>C
12g.88136772A>TCA481054411CEP290c.312T>A (p.Ser104=)
n.539T>A
c.210T>A (p.Ser70=)
c.171T>A (p.Ser57=)
n.656T>A
12g.88136773G>ACA385987774CEP290c.311C>T (p.Ser104Phe)
n.538C>T
c.209C>T (p.Ser70Phe)
c.170C>T (p.Ser57Phe)
n.655C>T
 COSMIC
12g.88136773G>CCA385987775CEP290c.311C>G (p.Ser104Cys)
n.538C>G
c.209C>G (p.Ser70Cys)
c.170C>G (p.Ser57Cys)
n.655C>G
12g.88136773G=CA2052931570CEP290c.311C= (p.Ser104=)
n.538C=
c.209C= (p.Ser70=)
c.170C= (p.Ser57=)
n.655C=
12g.88136773G>TCA385987777CEP290c.311C>A (p.Ser104Tyr)
n.538C>A
c.209C>A (p.Ser70Tyr)
c.170C>A (p.Ser57Tyr)
n.655C>A
12g.88136773_88136774insGTGGACGAGATCA2052931574CEP290c.310_311insATCTCGTCCAC (p.Ser104TyrfsTer25)
n.537_538insATCTCGTCCAC
c.208_209insATCTCGTCCAC (p.Ser70TyrfsTer25)
c.169_170insATCTCGTCCAC (p.Ser57TyrfsTer25)
n.654_655insATCTCGTCCAC
 dbSNP
12g.88136774A>CCA385987779CEP290c.310T>G (p.Ser104Ala)
n.537T>G
c.208T>G (p.Ser70Ala)
c.169T>G (p.Ser57Ala)
n.654T>G
12g.88136774A>GCA385987781CEP290c.310T>C (p.Ser104Pro)
n.537T>C
c.208T>C (p.Ser70Pro)
c.169T>C (p.Ser57Pro)
n.654T>C
12g.88136774A>TCA385987783CEP290c.310T>A (p.Ser104Thr)
n.537T>A
c.208T>A (p.Ser70Thr)
c.169T>A (p.Ser57Thr)
n.654T>A
12g.88136775C>ACA385987786CEP290c.309G>T (p.Gln103His)
n.536G>T
c.207G>T (p.Gln69His)
c.168G>T (p.Gln56His)
n.653G>T
12g.88136775C=CA2052931577CEP290c.309G= (p.Gln103=)
n.536G=
c.207G= (p.Gln69=)
c.168G= (p.Gln56=)
n.653G=
12g.88136775C>GCA385987788CEP290c.309G>C (p.Gln103His)
n.536G>C
c.207G>C (p.Gln69His)
c.168G>C (p.Gln56His)
n.653G>C
12g.88136775C>TCA481054413CEP290c.309G>A (p.Gln103=)
n.536G>A
c.207G>A (p.Gln69=)
c.168G>A (p.Gln56=)
n.653G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.88136776T>ACA385987791CEP290c.308A>T (p.Gln103Leu)
n.535A>T
c.206A>T (p.Gln69Leu)
c.167A>T (p.Gln56Leu)
n.652A>T
12g.88136776T>CCA385987796CEP290c.308A>G (p.Gln103Arg)
n.535A>G
c.206A>G (p.Gln69Arg)
c.167A>G (p.Gln56Arg)
n.652A>G
12g.88136776T>GCA6712831CEP290c.308A>C (p.Gln103Pro)
n.535A>C
c.206A>C (p.Gln69Pro)
c.167A>C (p.Gln56Pro)
n.652A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136776T=CA2052931580CEP290c.308A= (p.Gln103=)
n.535A=
c.206A= (p.Gln69=)
c.167A= (p.Gln56=)
n.652A=
12g.88136776_88136777delinsTGCA2052931582CEP290c.307_308delinsCA (p.Gln103=)
n.534_535delinsCA
c.205_206delinsCA (p.Gln69=)
c.166_167delinsCA (p.Gln56=)
n.651_652delinsCA
12g.88136777delCA2052931587CEP290c.307del (p.Gln103SerfsTer22)
n.534del
c.205del (p.Gln69SerfsTer22)
c.166del (p.Gln56SerfsTer22)
n.651del
 dbSNP
12g.88136777G>ACA6712832CEP290c.307C>T (p.Gln103Ter)
n.534C>T
c.205C>T (p.Gln69Ter)
c.166C>T (p.Gln56Ter)
n.651C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.88136777G>CCA385987799CEP290c.307C>G (p.Gln103Glu)
n.534C>G
c.205C>G (p.Gln69Glu)
c.166C>G (p.Gln56Glu)
n.651C>G
12g.88136777G=CA2052931591CEP290c.307C= (p.Gln103=)
n.534C=
c.205C= (p.Gln69=)
c.166C= (p.Gln56=)
n.651C=
12g.88136777G>TCA385987802CEP290c.307C>A (p.Gln103Lys)
n.534C>A
c.205C>A (p.Gln69Lys)
c.166C>A (p.Gln56Lys)
n.651C>A
12g.88136778C>ACA385987804CEP290c.306G>T (p.Gln102His)
n.533G>T
c.204G>T (p.Gln68His)
c.165G>T (p.Gln55His)
n.650G>T
12g.88136778C=CA2052931602CEP290c.306G= (p.Gln102=)
n.533G=
c.204G= (p.Gln68=)
c.165G= (p.Gln55=)
n.650G=
12g.88136778C>GCA385987806CEP290c.306G>C (p.Gln102His)
n.533G>C
c.204G>C (p.Gln68His)
c.165G>C (p.Gln55His)
n.650G>C
12g.88136778C>TCA6712833CEP290c.306G>A (p.Gln102=)
n.533G>A
c.204G>A (p.Gln68=)
c.165G>A (p.Gln55=)
n.650G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136778_88136779insGGTTTTTACGTAACA2052931610CEP290c.305_306insTTACGTAAAAACC (p.Gln102HisfsTer18)
n.532_533insTTACGTAAAAACC
c.203_204insTTACGTAAAAACC (p.Gln68HisfsTer18)
c.164_165insTTACGTAAAAACC (p.Gln55HisfsTer18)
n.649_650insTTACGTAAAAACC
 dbSNP
12g.88136779T>ACA385987809CEP290c.305A>T (p.Gln102Leu)
n.532A>T
c.203A>T (p.Gln68Leu)
c.164A>T (p.Gln55Leu)
n.649A>T
12g.88136779T>CCA385987810CEP290c.305A>G (p.Gln102Arg)
n.532A>G
c.203A>G (p.Gln68Arg)
c.164A>G (p.Gln55Arg)
n.649A>G
 ClinVar gnomAD v4 COSMIC
12g.88136779T>GCA385987812CEP290c.305A>C (p.Gln102Pro)
n.532A>C
c.203A>C (p.Gln68Pro)
c.164A>C (p.Gln55Pro)
n.649A>C
12g.88136780G>ACA385987820CEP290c.304C>T (p.Gln102Ter)
n.531C>T
c.202C>T (p.Gln68Ter)
c.163C>T (p.Gln55Ter)
n.648C>T
12g.88136780G>CCA385987816CEP290c.304C>G (p.Gln102Glu)
n.531C>G
c.202C>G (p.Gln68Glu)
c.163C>G (p.Gln55Glu)
n.648C>G
12g.88136780G>TCA385987818CEP290c.304C>A (p.Gln102Lys)
n.531C>A
c.202C>A (p.Gln68Lys)
c.163C>A (p.Gln55Lys)
n.648C>A
12g.88136781A=CA2052931614CEP290c.303T= (p.Ala101=)
n.530T=
c.201T= (p.Ala67=)
c.162T= (p.Ala54=)
n.647T=
12g.88136781A>CCA481054415CEP290c.303T>G (p.Ala101=)
n.530T>G
c.201T>G (p.Ala67=)
c.162T>G (p.Ala54=)
n.647T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.88136781A>GCA481054416CEP290c.303T>C (p.Ala101=)
n.530T>C
c.201T>C (p.Ala67=)
c.162T>C (p.Ala54=)
n.647T>C
 ClinVar dbSNP gnomAD v4
12g.88136781A>TCA481054417CEP290c.303T>A (p.Ala101=)
n.530T>A
c.201T>A (p.Ala67=)
c.162T>A (p.Ala54=)
n.647T>A
12g.88136782G>ACA385987821CEP290c.302C>T (p.Ala101Val)
n.529C>T
c.200C>T (p.Ala67Val)
c.161C>T (p.Ala54Val)
n.646C>T
12g.88136782G>CCA385987824CEP290c.302C>G (p.Ala101Gly)
n.529C>G
c.200C>G (p.Ala67Gly)
c.161C>G (p.Ala54Gly)
n.646C>G
12g.88136782G>TCA385987829CEP290c.302C>A (p.Ala101Asp)
n.529C>A
c.200C>A (p.Ala67Asp)
c.161C>A (p.Ala54Asp)
n.646C>A
12g.88136783C>ACA385987830CEP290c.301G>T (p.Ala101Ser)
n.528G>T
c.199G>T (p.Ala67Ser)
c.160G>T (p.Ala54Ser)
n.645G>T
12g.88136783C=CA2052931623CEP290c.301G= (p.Ala101=)
n.528G=
c.199G= (p.Ala67=)
c.160G= (p.Ala54=)
n.645G=
12g.88136783C>GCA385987831CEP290c.301G>C (p.Ala101Pro)
n.528G>C
c.199G>C (p.Ala67Pro)
c.160G>C (p.Ala54Pro)
n.645G>C
12g.88136783C>TCA6712834CEP290c.301G>A (p.Ala101Thr)
n.528G>A
c.199G>A (p.Ala67Thr)
c.160G>A (p.Ala54Thr)
n.645G>A
 dbSNP ExAC gnomAD v2
12g.88136784C>ACA385987836CEP290c.300G>T (p.Met100Ile)
n.527G>T
c.198G>T (p.Met66Ile)
c.159G>T (p.Met53Ile)
n.644G>T
12g.88136784C>GCA385987844CEP290c.300G>C (p.Met100Ile)
n.527G>C
c.198G>C (p.Met66Ile)
c.159G>C (p.Met53Ile)
n.644G>C
12g.88136784C>TCA385987845CEP290c.300G>A (p.Met100Ile)
n.527G>A
c.198G>A (p.Met66Ile)
c.159G>A (p.Met53Ile)
n.644G>A
 gnomAD v4
12g.88136785A>CCA385987851CEP290c.299T>G (p.Met100Arg)
n.526T>G
c.197T>G (p.Met66Arg)
c.158T>G (p.Met53Arg)
n.643T>G
12g.88136785A>GCA385987852CEP290c.299T>C (p.Met100Thr)
n.526T>C
c.197T>C (p.Met66Thr)
c.158T>C (p.Met53Thr)
n.643T>C
12g.88136785A>TCA385987849CEP290c.299T>A (p.Met100Lys)
n.526T>A
c.197T>A (p.Met66Lys)
c.158T>A (p.Met53Lys)
n.643T>A
12g.88136786T>ACA385987860CEP290c.298A>T (p.Met100Leu)
n.525A>T
c.196A>T (p.Met66Leu)
c.157A>T (p.Met53Leu)
n.642A>T
12g.88136786T>CCA385987855CEP290c.298A>G (p.Met100Val)
n.525A>G
c.196A>G (p.Met66Val)
c.157A>G (p.Met53Val)
n.642A>G
 dbSNP
12g.88136786T>GCA385987858CEP290c.298A>C (p.Met100Leu)
n.525A>C
c.196A>C (p.Met66Leu)
c.157A>C (p.Met53Leu)
n.642A>C
12g.88136786T=CA2052931627CEP290c.298A= (p.Met100=)
n.525A=
c.196A= (p.Met66=)
c.157A= (p.Met53=)
n.642A=
12g.88136787C>ACA385987862CEP290c.298-1G>T (n.298-1G>T)
n.525-1G>T
c.196-1G>T (n.196-1G>T)
c.157-1G>T (n.157-1G>T)
n.642-1G>T
12g.88136787C>GCA385987864CEP290c.298-1G>C (n.298-1G>C)
n.525-1G>C
c.196-1G>C (n.196-1G>C)
c.157-1G>C (n.157-1G>C)
n.642-1G>C
12g.88136787C>TCA385987866CEP290c.298-1G>A (n.298-1G>A)
n.525-1G>A
c.196-1G>A (n.196-1G>A)
c.157-1G>A (n.157-1G>A)
n.642-1G>A
12g.88136788T>ACA385987869CEP290c.298-2A>T (n.298-2A>T)
n.525-2A>T
c.196-2A>T (n.196-2A>T)
c.157-2A>T (n.157-2A>T)
n.642-2A>T
12g.88136788T>CCA385987872CEP290c.298-2A>G (n.298-2A>G)
n.525-2A>G
c.196-2A>G (n.196-2A>G)
c.157-2A>G (n.157-2A>G)
n.642-2A>G
 dbSNP
12g.88136788T>GCA385987875CEP290c.298-2A>C (n.298-2A>C)
n.525-2A>C
c.196-2A>C (n.196-2A>C)
c.157-2A>C (n.157-2A>C)
n.642-2A>C
12g.88136788T=CA2052931629CEP290c.298-2A= (n.298-2A=)
n.525-2A=
c.196-2A= (n.196-2A=)
c.157-2A= (n.157-2A=)
n.642-2A=
12g.88136789T>ACA2052931634CEP290c.298-3A>T (n.298-3A>T)
n.525-3A>T
c.196-3A>T (n.196-3A>T)
c.157-3A>T (n.157-3A>T)
n.642-3A>T
 dbSNP
12g.88136789T>CCA2739427835CEP290c.298-3A>G (n.298-3A>G)
n.525-3A>G
c.196-3A>G (n.196-3A>G)
c.157-3A>G (n.157-3A>G)
n.642-3A>G
12g.88136789T>GCA241165312CEP290c.298-3A>C (n.298-3A>C)
n.525-3A>C
c.196-3A>C (n.196-3A>C)
c.157-3A>C (n.157-3A>C)
n.642-3A>C
 dbSNP gnomAD v3 gnomAD v4
12g.88136789T=CA2052931633CEP290c.298-3A= (n.298-3A=)
n.525-3A=
c.196-3A= (n.196-3A=)
c.157-3A= (n.157-3A=)
n.642-3A=
12g.88136790A>GCA2620110482CEP290c.298-4T>C (n.298-4T>C)
n.525-4T>C
c.196-4T>C (n.196-4T>C)
c.157-4T>C (n.157-4T>C)
n.642-4T>C
 gnomAD v4
12g.88136790A>TCA2620110484CEP290c.298-4T>A (n.298-4T>A)
n.525-4T>A
c.196-4T>A (n.196-4T>A)
c.157-4T>A (n.157-4T>A)
n.642-4T>A
 gnomAD v4
12g.88136792A=CA2052931638CEP290c.298-6T= (n.298-6T=)
n.525-6T=
c.196-6T= (n.196-6T=)
c.157-6T= (n.157-6T=)
n.642-6T=
12g.88136792A>CCA693103326CEP290c.298-6T>G (n.298-6T>G)
n.525-6T>G
c.196-6T>G (n.196-6T>G)
c.157-6T>G (n.157-6T>G)
n.642-6T>G
 dbSNP
12g.88136793G>ACA2052931641CEP290c.298-7C>T (n.298-7C>T)
n.525-7C>T
c.196-7C>T (n.196-7C>T)
c.157-7C>T (n.157-7C>T)
n.642-7C>T
 ClinVar dbSNP gnomAD v4
12g.88136793G=CA2052931640CEP290c.298-7C= (n.298-7C=)
n.525-7C=
c.196-7C= (n.196-7C=)
c.157-7C= (n.157-7C=)
n.642-7C=
12g.88136796A=CA2052931644CEP290c.298-10T= (n.298-10T=)
n.525-10T=
c.196-10T= (n.196-10T=)
c.157-10T= (n.157-10T=)
n.642-10T=
12g.88136796A>GCA2052931645CEP290c.298-10T>C (n.298-10T>C)
n.525-10T>C
c.196-10T>C (n.196-10T>C)
c.157-10T>C (n.157-10T>C)
n.642-10T>C
 ClinVar dbSNP gnomAD v4
12g.88136797T>CCA6712835CEP290c.298-11A>G (n.298-11A>G)
n.525-11A>G
c.196-11A>G (n.196-11A>G)
c.157-11A>G (n.157-11A>G)
n.642-11A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136797T=CA2052931647CEP290c.298-11A= (n.298-11A=)
n.525-11A=
c.196-11A= (n.196-11A=)
c.157-11A= (n.157-11A=)
n.642-11A=
12g.88136801C>ACA6712836CEP290c.298-15G>T (n.298-15G>T)
n.525-15G>T
c.196-15G>T (n.196-15G>T)
c.157-15G>T (n.157-15G>T)
n.642-15G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136801C=CA2052931650CEP290c.298-15G= (n.298-15G=)
n.525-15G=
c.196-15G= (n.196-15G=)
c.157-15G= (n.157-15G=)
n.642-15G=
12g.88136801C>TCA6712837CEP290c.298-15G>A (n.298-15G>A)
n.525-15G>A
c.196-15G>A (n.196-15G>A)
c.157-15G>A (n.157-15G>A)
n.642-15G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136802C>ACA6712838CEP290c.298-16G>T (n.298-16G>T)
n.525-16G>T
c.196-16G>T (n.196-16G>T)
c.157-16G>T (n.157-16G>T)
n.642-16G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136802C=CA2052931656CEP290c.298-16G= (n.298-16G=)
n.525-16G=
c.196-16G= (n.196-16G=)
c.157-16G= (n.157-16G=)
n.642-16G=
12g.88136802C>GCA6712839CEP290c.298-16G>C (n.298-16G>C)
n.525-16G>C
c.196-16G>C (n.196-16G>C)
c.157-16G>C (n.157-16G>C)
n.642-16G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136802C>TCA6712840CEP290c.298-16G>A (n.298-16G>A)
n.525-16G>A
c.196-16G>A (n.196-16G>A)
c.157-16G>A (n.157-16G>A)
n.642-16G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88136803C>ACA2552131499CEP290c.298-17G>T (n.298-17G>T)
n.525-17G>T
c.196-17G>T (n.196-17G>T)
c.157-17G>T (n.157-17G>T)
n.642-17G>T
 gnomAD v4
12g.88136803C>TCA2620110501CEP290c.298-17G>A (n.298-17G>A)
n.525-17G>A
c.196-17G>A (n.196-17G>A)
c.157-17G>A (n.157-17G>A)
n.642-17G>A
 gnomAD v4
12g.88136804A>GCA2620110502CEP290c.298-18T>C (n.298-18T>C)
n.525-18T>C
c.196-18T>C (n.196-18T>C)
c.157-18T>C (n.157-18T>C)
n.642-18T>C
 gnomAD v4

Number of alleles fetched