Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.159886459A>GCA2505057401CFAP45c.767+52T>C (n.767+52T>C)
c.512+52T>C (n.512+52T>C)
 gnomAD v4
1g.159886461delCA2573933928CFAP45c.767+52del (n.767+52del)
c.512+52del (n.512+52del)
1g.159886461A=CA1202094277CFAP45c.767+50T= (n.767+50T=)
c.512+50T= (n.512+50T=)
1g.159886461A>CCA526677629CFAP45c.767+50T>G (n.767+50T>G)
c.512+50T>G (n.512+50T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.159886462_159886467delCA2648611012CFAP45c.767+45_767+50del (n.767+45_767+50del)
c.512+45_512+50del (n.512+45_512+50del)
 gnomAD v4
1g.159886462G>TCA2648611015CFAP45c.767+49C>A (n.767+49C>A)
c.512+49C>A (n.512+49C>A)
 gnomAD v4
1g.159886463A>GCA2648611017CFAP45c.767+48T>C (n.767+48T>C)
c.512+48T>C (n.512+48T>C)
 gnomAD v4
1g.159886464T>CCA2648611019CFAP45c.767+47A>G (n.767+47A>G)
c.512+47A>G (n.512+47A>G)
 gnomAD v4
1g.159886465A>GCA2544425588CFAP45c.767+46T>C (n.767+46T>C)
c.512+46T>C (n.512+46T>C)
 gnomAD v4
1g.159886465A>TCA2573933932CFAP45c.767+46T>A (n.767+46T>A)
c.512+46T>A (n.512+46T>A)
1g.159886466C>ACA2648611022CFAP45c.767+45G>T (n.767+45G>T)
c.512+45G>T (n.512+45G>T)
 gnomAD v4
1g.159886466C=CA1202094278CFAP45c.767+45G= (n.767+45G=)
c.512+45G= (n.512+45G=)
1g.159886466C>TCA1202094279CFAP45c.767+45G>A (n.767+45G>A)
c.512+45G>A (n.512+45G>A)
 dbSNP
1g.159886467A>GCA2573933943CFAP45c.767+44T>C (n.767+44T>C)
c.512+44T>C (n.512+44T>C)
1g.159886468T>CCA2648611023CFAP45c.767+43A>G (n.767+43A>G)
c.512+43A>G (n.512+43A>G)
 gnomAD v4
1g.159886469G>TCA2648611025CFAP45c.767+42C>A (n.767+42C>A)
c.512+42C>A (n.512+42C>A)
 gnomAD v4
1g.159886470G>TCA2648611027CFAP45c.767+41C>A (n.767+41C>A)
c.512+41C>A (n.512+41C>A)
 gnomAD v4
1g.159886474T>CCA526677630CFAP45c.767+37A>G (n.767+37A>G)
c.512+37A>G (n.512+37A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.159886474T=CA1202094280CFAP45c.767+37A= (n.767+37A=)
c.512+37A= (n.512+37A=)
1g.159886475A>GCA2648611031CFAP45c.767+36T>C (n.767+36T>C)
c.512+36T>C (n.512+36T>C)
 gnomAD v4
1g.159886476G>TCA2648611034CFAP45c.767+35C>A (n.767+35C>A)
c.512+35C>A (n.512+35C>A)
 gnomAD v4
1g.159886477C=CA1143530546CFAP45c.767+34G= (n.767+34G=)
c.512+34G= (n.512+34G=)
1g.159886477C>TCA31389716CFAP45c.767+34G>A (n.767+34G>A)
c.512+34G>A (n.512+34G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.159886481G>ACA1191049CFAP45c.767+30C>T (n.767+30C>T)
c.512+30C>T (n.512+30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886481G=CA1202094281CFAP45c.767+30C= (n.767+30C=)
c.512+30C= (n.512+30C=)
1g.159886482A>GCA2648611036CFAP45c.767+29T>C (n.767+29T>C)
c.512+29T>C (n.512+29T>C)
 gnomAD v4
1g.159886483G>ACA1008314365CFAP45c.767+28C>T (n.767+28C>T)
c.512+28C>T (n.512+28C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.159886483G=CA1202094282CFAP45c.767+28C= (n.767+28C=)
c.512+28C= (n.512+28C=)
1g.159886484A=CA1202094283CFAP45c.767+27T= (n.767+27T=)
c.512+27T= (n.512+27T=)
1g.159886484A>TCA890055372CFAP45c.767+27T>A (n.767+27T>A)
c.512+27T>A (n.512+27T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.159886485G>ACA31389720CFAP45c.767+26C>T (n.767+26C>T)
c.512+26C>T (n.512+26C>T)
 dbSNP
1g.159886485G=CA1148349325CFAP45c.767+26C= (n.767+26C=)
c.512+26C= (n.512+26C=)
1g.159886486G>ACA1202094285CFAP45c.767+25C>T (n.767+25C>T)
c.512+25C>T (n.512+25C>T)
 dbSNP gnomAD v4
1g.159886486G=CA1202094284CFAP45c.767+25C= (n.767+25C=)
c.512+25C= (n.512+25C=)
1g.159886487G>ACA890055379CFAP45c.767+24C>T (n.767+24C>T)
c.512+24C>T (n.512+24C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.159886487G=CA1202094286CFAP45c.767+24C= (n.767+24C=)
c.512+24C= (n.512+24C=)
1g.159886488A=CA1202094287CFAP45c.767+23T= (n.767+23T=)
c.512+23T= (n.512+23T=)
1g.159886488A>CCA2648611040CFAP45c.767+23T>G (n.767+23T>G)
c.512+23T>G (n.512+23T>G)
 gnomAD v4
1g.159886488A>TCA526677631CFAP45c.767+23T>A (n.767+23T>A)
c.512+23T>A (n.512+23T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.159886489G>ACA526677632CFAP45c.767+22C>T (n.767+22C>T)
c.512+22C>T (n.512+22C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.159886489G>CCA526677633CFAP45c.767+22C>G (n.767+22C>G)
c.512+22C>G (n.512+22C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.159886489G=CA1202094288CFAP45c.767+22C= (n.767+22C=)
c.512+22C= (n.512+22C=)
1g.159886491T>CCA890055396CFAP45c.767+20A>G (n.767+20A>G)
c.512+20A>G (n.512+20A>G)
 dbSNP gnomAD v4
1g.159886491T=CA1202094289CFAP45c.767+20A= (n.767+20A=)
c.512+20A= (n.512+20A=)
1g.159886492G>ACA1008314368CFAP45c.767+19C>T (n.767+19C>T)
c.512+19C>T (n.512+19C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.159886492G=CA1202094290CFAP45c.767+19C= (n.767+19C=)
c.512+19C= (n.512+19C=)
1g.159886493C=CA1202094291CFAP45c.767+18G= (n.767+18G=)
c.512+18G= (n.512+18G=)
1g.159886493C>TCA31389722CFAP45c.767+18G>A (n.767+18G>A)
c.512+18G>A (n.512+18G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.159886494C=CA1202094292CFAP45c.767+17G= (n.767+17G=)
c.512+17G= (n.512+17G=)
1g.159886494C>TCA526677634CFAP45c.767+17G>A (n.767+17G>A)
c.512+17G>A (n.512+17G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.159886499C>ACA1202094294CFAP45c.767+12G>T (n.767+12G>T)
c.512+12G>T (n.512+12G>T)
 dbSNP
1g.159886499C=CA1202094293CFAP45c.767+12G= (n.767+12G=)
c.512+12G= (n.512+12G=)
1g.159886500C>ACA2746331634CFAP45c.767+11G>T (n.767+11G>T)
c.512+11G>T (n.512+11G>T)
1g.159886500C=CA1202094295CFAP45c.767+11G= (n.767+11G=)
c.512+11G= (n.512+11G=)
1g.159886500C>TCA1202094296CFAP45c.767+11G>A (n.767+11G>A)
c.512+11G>A (n.512+11G>A)
 dbSNP gnomAD v4
1g.159886501A=CA1202094297CFAP45c.767+10T= (n.767+10T=)
c.512+10T= (n.512+10T=)
1g.159886501A>GCA890055401CFAP45c.767+10T>C (n.767+10T>C)
c.512+10T>C (n.512+10T>C)
 dbSNP
1g.159886503A=CA1202094298CFAP45c.767+8T= (n.767+8T=)
c.512+8T= (n.512+8T=)
1g.159886503A>GCA1191050CFAP45c.767+8T>C (n.767+8T>C)
c.512+8T>C (n.512+8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886504T>ACA2648611048CFAP45c.767+7A>T (n.767+7A>T)
c.512+7A>T (n.512+7A>T)
 gnomAD v4
1g.159886506T>CCA2648611050CFAP45c.767+5A>G (n.767+5A>G)
c.512+5A>G (n.512+5A>G)
 gnomAD v4
1g.159886507T>CCA2573933950CFAP45c.767+4A>G (n.767+4A>G)
c.512+4A>G (n.512+4A>G)
1g.159886509A>CCA343219617CFAP45c.767+2T>G (n.767+2T>G)
c.512+2T>G (n.512+2T>G)
1g.159886509A>GCA343219621CFAP45c.767+2T>C (n.767+2T>C)
c.512+2T>C (n.512+2T>C)
1g.159886509A>TCA343219619CFAP45c.767+2T>A (n.767+2T>A)
c.512+2T>A (n.512+2T>A)
1g.159886510C>ACA343219623CFAP45c.767+1G>T (n.767+1G>T)
c.512+1G>T (n.512+1G>T)
1g.159886510C=CA1202094299CFAP45c.767+1G= (n.767+1G=)
c.512+1G= (n.512+1G=)
1g.159886510C>GCA343219625CFAP45c.767+1G>C (n.767+1G>C)
c.512+1G>C (n.512+1G>C)
1g.159886510C>TCA343219626CFAP45c.767+1G>A (n.767+1G>A)
c.512+1G>A (n.512+1G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.159886511C>ACA343219628CFAP45c.767G>T (p.Arg256Ile)
c.512G>T (p.Arg171Ile)
 dbSNP
1g.159886511C=CA1202094300CFAP45c.767G= (p.Arg256=)
c.512G= (p.Arg171=)
1g.159886511C>GCA343219630CFAP45c.767G>C (p.Arg256Thr)
c.512G>C (p.Arg171Thr)
1g.159886511C>TCA343219631CFAP45c.767G>A (p.Arg256Lys)
c.512G>A (p.Arg171Lys)
1g.159886512T>ACA343219633CFAP45c.766A>T (p.Arg256Ter)
c.511A>T (p.Arg171Ter)
1g.159886512T>CCA343219634CFAP45c.766A>G (p.Arg256Gly)
c.511A>G (p.Arg171Gly)
1g.159886512T>GCA421350572CFAP45c.766A>C (p.Arg256=)
c.511A>C (p.Arg171=)
1g.159886513A>CCA343219636CFAP45c.765T>G (p.Ile255Met)
c.510T>G (p.Ile170Met)
1g.159886513A>GCA421350574CFAP45c.765T>C (p.Ile255=)
c.510T>C (p.Ile170=)
1g.159886513A>TCA421350573CFAP45c.765T>A (p.Ile255=)
c.510T>A (p.Ile170=)
1g.159886514A>CCA343219637CFAP45c.764T>G (p.Ile255Ser)
c.509T>G (p.Ile170Ser)
1g.159886514A>GCA343219638CFAP45c.764T>C (p.Ile255Thr)
c.509T>C (p.Ile170Thr)
1g.159886514A>TCA343219640CFAP45c.764T>A (p.Ile255Asn)
c.509T>A (p.Ile170Asn)
1g.159886515T>ACA343219646CFAP45c.763A>T (p.Ile255Phe)
c.508A>T (p.Ile170Phe)
1g.159886515T>CCA343219643CFAP45c.763A>G (p.Ile255Val)
c.508A>G (p.Ile170Val)
1g.159886515T>GCA343219645CFAP45c.763A>C (p.Ile255Leu)
c.508A>C (p.Ile170Leu)
 gnomAD v4
1g.159886516T>ACA343219649CFAP45c.762A>T (p.Arg254Ser)
c.507A>T (p.Arg169Ser)
1g.159886516T>CCA421350576CFAP45c.762A>G (p.Arg254=)
c.507A>G (p.Arg169=)
1g.159886516T>GCA343219650CFAP45c.762A>C (p.Arg254Ser)
c.507A>C (p.Arg169Ser)
1g.159886516T=CA1202094301CFAP45c.762A= (p.Arg254=)
c.507A= (p.Arg169=)
1g.159886516_159886517insTTGTGTGTACATGTATAAGTGAGTTTTATGGAGGAGAGGGCCA1191051CFAP45c.761_762insGCCCTCTCCTCCATAAAACTCACTTATACATGTACACACAA (p.Ile255ProfsTer5)
c.506_507insGCCCTCTCCTCCATAAAACTCACTTATACATGTACACACAA (p.Ile170ProfsTer5)
 dbSNP ExAC gnomAD v2
1g.159886517C>ACA1191052CFAP45c.761G>T (p.Arg254Ile)
c.506G>T (p.Arg169Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.159886517C=CA1148476085CFAP45c.761G= (p.Arg254=)
c.506G= (p.Arg169=)
1g.159886517C>GCA343219653CFAP45c.761G>C (p.Arg254Thr)
c.506G>C (p.Arg169Thr)
1g.159886517C>TCA343219655CFAP45c.761G>A (p.Arg254Lys)
c.506G>A (p.Arg169Lys)
1g.159886518T>ACA343219657CFAP45c.760A>T (p.Arg254Ter)
c.505A>T (p.Arg169Ter)
1g.159886518T>CCA343219659CFAP45c.760A>G (p.Arg254Gly)
c.505A>G (p.Arg169Gly)
1g.159886518T>GCA1191053CFAP45c.760A>C (p.Arg254=)
c.505A>C (p.Arg169=)
 dbSNP ExAC gnomAD v2
1g.159886518T=CA1202094302CFAP45c.760A= (p.Arg254=)
c.505A= (p.Arg169=)
1g.159886519T>ACA343219660CFAP45c.759A>T (p.Glu253Asp)
c.504A>T (p.Glu168Asp)
1g.159886519T>CCA421350577CFAP45c.759A>G (p.Glu253=)
c.504A>G (p.Glu168=)
1g.159886519T>GCA343219662CFAP45c.759A>C (p.Glu253Asp)
c.504A>C (p.Glu168Asp)
1g.159886520T>ACA343219668CFAP45c.758A>T (p.Glu253Val)
c.503A>T (p.Glu168Val)
1g.159886520T>CCA343219666CFAP45c.758A>G (p.Glu253Gly)
c.503A>G (p.Glu168Gly)
 dbSNP
1g.159886520T>GCA343219664CFAP45c.758A>C (p.Glu253Ala)
c.503A>C (p.Glu168Ala)
1g.159886520T=CA1202094303CFAP45c.758A= (p.Glu253=)
c.503A= (p.Glu168=)
1g.159886521C>ACA343219669CFAP45c.757G>T (p.Glu253Ter)
c.502G>T (p.Glu168Ter)
1g.159886521C=CA1202094304CFAP45c.757G= (p.Glu253=)
c.502G= (p.Glu168=)
1g.159886521C>GCA1191054CFAP45c.757G>C (p.Glu253Gln)
c.502G>C (p.Glu168Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886521C>TCA343219671CFAP45c.757G>A (p.Glu253Lys)
c.502G>A (p.Glu168Lys)
1g.159886522C>ACA343219673CFAP45c.756G>T (p.Glu252Asp)
c.501G>T (p.Glu167Asp)
1g.159886522C=CA1202094305CFAP45c.756G= (p.Glu252=)
c.501G= (p.Glu167=)
1g.159886522C>GCA343219674CFAP45c.756G>C (p.Glu252Asp)
c.501G>C (p.Glu167Asp)
 dbSNP gnomAD v4
1g.159886522C>TCA421350579CFAP45c.756G>A (p.Glu252=)
c.501G>A (p.Glu167=)
1g.159886523T>ACA343219676CFAP45c.755A>T (p.Glu252Val)
c.500A>T (p.Glu167Val)
1g.159886523T>CCA343219678CFAP45c.755A>G (p.Glu252Gly)
c.500A>G (p.Glu167Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.159886523T>GCA343219679CFAP45c.755A>C (p.Glu252Ala)
c.500A>C (p.Glu167Ala)
1g.159886523T=CA1202094306CFAP45c.755A= (p.Glu252=)
c.500A= (p.Glu167=)
1g.159886524C>ACA343219681CFAP45c.754G>T (p.Glu252Ter)
c.499G>T (p.Glu167Ter)
1g.159886524C>GCA343219682CFAP45c.754G>C (p.Glu252Gln)
c.499G>C (p.Glu167Gln)
 gnomAD v4
1g.159886524C>TCA343219684CFAP45c.754G>A (p.Glu252Lys)
c.499G>A (p.Glu167Lys)
1g.159886525C>ACA343219685CFAP45c.753G>T (p.Arg251Ser)
c.498G>T (p.Arg166Ser)
1g.159886525C>GCA343219687CFAP45c.753G>C (p.Arg251Ser)
c.498G>C (p.Arg166Ser)
 gnomAD v4
1g.159886525C>TCA421350581CFAP45c.753G>A (p.Arg251=)
c.498G>A (p.Arg166=)
1g.159886526C>ACA343219691CFAP45c.752G>T (p.Arg251Met)
c.497G>T (p.Arg166Met)
 gnomAD v4
1g.159886526C>GCA343219689CFAP45c.752G>C (p.Arg251Thr)
c.497G>C (p.Arg166Thr)
1g.159886526C>TCA343219690CFAP45c.752G>A (p.Arg251Lys)
c.497G>A (p.Arg166Lys)
 gnomAD v4
1g.159886527T>ACA343219692CFAP45c.751A>T (p.Arg251Trp)
c.496A>T (p.Arg166Trp)
1g.159886527T>CCA1191055CFAP45c.751A>G (p.Arg251Gly)
c.496A>G (p.Arg166Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886527T>GCA421350582CFAP45c.751A>C (p.Arg251=)
c.496A>C (p.Arg166=)
1g.159886527T=CA1149054356CFAP45c.751A= (p.Arg251=)
c.496A= (p.Arg166=)
1g.159886527dupCA2573933994CFAP45c.751dup (p.Arg251LysfsTer6)
c.496dup (p.Arg166LysfsTer6)
1g.159886528C>ACA343219695CFAP45c.750G>T (p.Arg250Ser)
c.495G>T (p.Arg165Ser)
1g.159886528C>GCA343219697CFAP45c.750G>C (p.Arg250Ser)
c.495G>C (p.Arg165Ser)
1g.159886528C>TCA421350584CFAP45c.750G>A (p.Arg250=)
c.495G>A (p.Arg165=)
 gnomAD v4
1g.159886529C>ACA343219699CFAP45c.749G>T (p.Arg250Met)
c.494G>T (p.Arg165Met)
1g.159886529C>GCA343219700CFAP45c.749G>C (p.Arg250Thr)
c.494G>C (p.Arg165Thr)
1g.159886529C>TCA343219701CFAP45c.749G>A (p.Arg250Lys)
c.494G>A (p.Arg165Lys)
 gnomAD v4
1g.159886530T>ACA343219703CFAP45c.748A>T (p.Arg250Trp)
c.493A>T (p.Arg165Trp)
1g.159886530T>CCA343219705CFAP45c.748A>G (p.Arg250Gly)
c.493A>G (p.Arg165Gly)
1g.159886530T>GCA421350586CFAP45c.748A>C (p.Arg250=)
c.493A>C (p.Arg165=)
1g.159886531C>ACA343219707CFAP45c.747G>T (p.Lys249Asn)
c.492G>T (p.Lys164Asn)
1g.159886531C=CA1202094307CFAP45c.747G= (p.Lys249=)
c.492G= (p.Lys164=)
1g.159886531C>GCA343219709CFAP45c.747G>C (p.Lys249Asn)
c.492G>C (p.Lys164Asn)
1g.159886531C>TCA1191056CFAP45c.747G>A (p.Lys249=)
c.492G>A (p.Lys164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886532T>ACA31389741CFAP45c.746A>T (p.Lys249Met)
c.491A>T (p.Lys164Met)
 dbSNP
1g.159886532T>CCA1191057CFAP45c.746A>G (p.Lys249Arg)
c.491A>G (p.Lys164Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886532T>GCA343219716CFAP45c.746A>C (p.Lys249Thr)
c.491A>C (p.Lys164Thr)
1g.159886532T=CA1143403877CFAP45c.746A= (p.Lys249=)
c.491A= (p.Lys164=)
1g.159886533T>ACA343219720CFAP45c.745A>T (p.Lys249Ter)
c.490A>T (p.Lys164Ter)
1g.159886533T>CCA343219724CFAP45c.745A>G (p.Lys249Glu)
c.490A>G (p.Lys164Glu)
1g.159886533T>GCA343219722CFAP45c.745A>C (p.Lys249Gln)
c.490A>C (p.Lys164Gln)
1g.159886534C>ACA343219725CFAP45c.744G>T (p.Arg248Ser)
c.489G>T (p.Arg163Ser)
1g.159886534C>GCA343219727CFAP45c.744G>C (p.Arg248Ser)
c.489G>C (p.Arg163Ser)
1g.159886534C>TCA421350588CFAP45c.744G>A (p.Arg248=)
c.489G>A (p.Arg163=)
 gnomAD v4
1g.159886535C>ACA343219730CFAP45c.743G>T (p.Arg248Met)
c.488G>T (p.Arg163Met)
1g.159886535C=CA1202094308CFAP45c.743G= (p.Arg248=)
c.488G= (p.Arg163=)
1g.159886535C>GCA343219731CFAP45c.743G>C (p.Arg248Thr)
c.488G>C (p.Arg163Thr)
1g.159886535C>TCA343219733CFAP45c.743G>A (p.Arg248Lys)
c.488G>A (p.Arg163Lys)
 dbSNP gnomAD v4
1g.159886536T>ACA343219736CFAP45c.742A>T (p.Arg248Trp)
c.487A>T (p.Arg163Trp)
1g.159886536T>CCA343219737CFAP45c.742A>G (p.Arg248Gly)
c.487A>G (p.Arg163Gly)
1g.159886536T>GCA421350589CFAP45c.742A>C (p.Arg248=)
c.487A>C (p.Arg163=)
1g.159886537C>ACA343219738CFAP45c.741G>T (p.Glu247Asp)
c.486G>T (p.Glu162Asp)
1g.159886537C=CA1202094309CFAP45c.741G= (p.Glu247=)
c.486G= (p.Glu162=)
1g.159886537C>GCA343219739CFAP45c.741G>C (p.Glu247Asp)
c.486G>C (p.Glu162Asp)
 dbSNP gnomAD v4
1g.159886537C>TCA421350591CFAP45c.741G>A (p.Glu247=)
c.486G>A (p.Glu162=)
 gnomAD v4
1g.159886538T>ACA343219740CFAP45c.740A>T (p.Glu247Val)
c.485A>T (p.Glu162Val)
1g.159886538T>CCA343219741CFAP45c.740A>G (p.Glu247Gly)
c.485A>G (p.Glu162Gly)
 gnomAD v4
1g.159886538T>GCA343219742CFAP45c.740A>C (p.Glu247Ala)
c.485A>C (p.Glu162Ala)
1g.159886539C>ACA343219744CFAP45c.739G>T (p.Glu247Ter)
c.484G>T (p.Glu162Ter)
1g.159886539C=CA1202094310CFAP45c.739G= (p.Glu247=)
c.484G= (p.Glu162=)
1g.159886539C>GCA1191058CFAP45c.739G>C (p.Glu247Gln)
c.484G>C (p.Glu162Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886539C>TCA343219743CFAP45c.739G>A (p.Glu247Lys)
c.484G>A (p.Glu162Lys)
1g.159886540C>ACA421350592CFAP45c.738G>T (p.Leu246=)
c.483G>T (p.Leu161=)
1g.159886540C>GCA421350593CFAP45c.738G>C (p.Leu246=)
c.483G>C (p.Leu161=)
1g.159886540C>TCA421350594CFAP45c.738G>A (p.Leu246=)
c.483G>A (p.Leu161=)
1g.159886541A>CCA343219745CFAP45c.737T>G (p.Leu246Arg)
c.482T>G (p.Leu161Arg)
1g.159886541A>GCA343219746CFAP45c.737T>C (p.Leu246Pro)
c.482T>C (p.Leu161Pro)
1g.159886541A>TCA343219747CFAP45c.737T>A (p.Leu246Gln)
c.482T>A (p.Leu161Gln)
 gnomAD v4
1g.159886542G>ACA1191060CFAP45c.736C>T (p.Leu246=)
c.481C>T (p.Leu161=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886542G>CCA1191059CFAP45c.736C>G (p.Leu246Val)
c.481C>G (p.Leu161Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886542G=CA1202094311CFAP45c.736C= (p.Leu246=)
c.481C= (p.Leu161=)
1g.159886542G>TCA343219748CFAP45c.736C>A (p.Leu246Met)
c.481C>A (p.Leu161Met)
1g.159886543T>ACA343219749CFAP45c.735A>T (p.Glu245Asp)
c.480A>T (p.Glu160Asp)
1g.159886543T>CCA421350596CFAP45c.735A>G (p.Glu245=)
c.480A>G (p.Glu160=)
1g.159886543T>GCA343219750CFAP45c.735A>C (p.Glu245Asp)
c.480A>C (p.Glu160Asp)
1g.159886544T>ACA343219751CFAP45c.734A>T (p.Glu245Val)
c.479A>T (p.Glu160Val)
1g.159886544T>CCA343219752CFAP45c.734A>G (p.Glu245Gly)
c.479A>G (p.Glu160Gly)
1g.159886544T>GCA343219753CFAP45c.734A>C (p.Glu245Ala)
c.479A>C (p.Glu160Ala)
1g.159886545C>ACA343219756CFAP45c.733G>T (p.Glu245Ter)
c.478G>T (p.Glu160Ter)
1g.159886545C>GCA343219755CFAP45c.733G>C (p.Glu245Gln)
c.478G>C (p.Glu160Gln)
1g.159886545C>TCA343219754CFAP45c.733G>A (p.Glu245Lys)
c.478G>A (p.Glu160Lys)
1g.159886546C>ACA343219757CFAP45c.732G>T (p.Glu244Asp)
c.477G>T (p.Glu159Asp)
1g.159886546C=CA1202094312CFAP45c.732G= (p.Glu244=)
c.477G= (p.Glu159=)
1g.159886546C>GCA1191061CFAP45c.732G>C (p.Glu244Asp)
c.477G>C (p.Glu159Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886546C>TCA421350598CFAP45c.732G>A (p.Glu244=)
c.477G>A (p.Glu159=)
 dbSNP gnomAD v2 gnomAD v4
1g.159886547T>ACA343219758CFAP45c.731A>T (p.Glu244Val)
c.476A>T (p.Glu159Val)
1g.159886547T>CCA343219759CFAP45c.731A>G (p.Glu244Gly)
c.476A>G (p.Glu159Gly)
 dbSNP gnomAD v2
1g.159886547T>GCA343219760CFAP45c.731A>C (p.Glu244Ala)
c.476A>C (p.Glu159Ala)
1g.159886547T=CA1202094313CFAP45c.731A= (p.Glu244=)
c.476A= (p.Glu159=)
1g.159886548C>ACA343219761CFAP45c.730G>T (p.Glu244Ter)
c.475G>T (p.Glu159Ter)
1g.159886548C=CA1202094314CFAP45c.730G= (p.Glu244=)
c.475G= (p.Glu159=)
1g.159886548C>GCA343219762CFAP45c.730G>C (p.Glu244Gln)
c.475G>C (p.Glu159Gln)
 dbSNP gnomAD v4
1g.159886548C>TCA343219763CFAP45c.730G>A (p.Glu244Lys)
c.475G>A (p.Glu159Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.159886549delCA2648611110CFAP45c.730del (p.Glu244ArgfsTer?)
c.475del (p.Glu159ArgfsTer?)
 gnomAD v4
1g.159886549C>ACA343219764CFAP45c.729G>T (p.Gln243His)
c.474G>T (p.Gln158His)
1g.159886549C>GCA343219765CFAP45c.729G>C (p.Gln243His)
c.474G>C (p.Gln158His)
1g.159886549C>TCA421350601CFAP45c.729G>A (p.Gln243=)
c.474G>A (p.Gln158=)
1g.159886550T>ACA343219766CFAP45c.728A>T (p.Gln243Leu)
c.473A>T (p.Gln158Leu)
1g.159886550T>CCA1191062CFAP45c.728A>G (p.Gln243Arg)
c.473A>G (p.Gln158Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886550T>GCA343219767CFAP45c.728A>C (p.Gln243Pro)
c.473A>C (p.Gln158Pro)
1g.159886550T=CA1202094315CFAP45c.728A= (p.Gln243=)
c.473A= (p.Gln158=)
1g.159886551G>ACA1191063CFAP45c.727C>T (p.Gln243Ter)
c.472C>T (p.Gln158Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886551G>CCA343219769CFAP45c.727C>G (p.Gln243Glu)
c.472C>G (p.Gln158Glu)
1g.159886551G=CA1146489821CFAP45c.727C= (p.Gln243=)
c.472C= (p.Gln158=)
1g.159886551G>TCA343219768CFAP45c.727C>A (p.Gln243Lys)
c.472C>A (p.Gln158Lys)
1g.159886552C>ACA343219770CFAP45c.726G>T (p.Arg242Ser)
c.471G>T (p.Arg157Ser)
1g.159886552C=CA1202094316CFAP45c.726G= (p.Arg242=)
c.471G= (p.Arg157=)
1g.159886552C>GCA343219771CFAP45c.726G>C (p.Arg242Ser)
c.471G>C (p.Arg157Ser)
1g.159886552C>TCA421350605CFAP45c.726G>A (p.Arg242=)
c.471G>A (p.Arg157=)
 dbSNP gnomAD v2 gnomAD v4
1g.159886553C>ACA343219772CFAP45c.725G>T (p.Arg242Met)
c.470G>T (p.Arg157Met)
1g.159886553C>GCA343219773CFAP45c.725G>C (p.Arg242Thr)
c.470G>C (p.Arg157Thr)
1g.159886553C>TCA343219774CFAP45c.725G>A (p.Arg242Lys)
c.470G>A (p.Arg157Lys)
 gnomAD v4
1g.159886554T>ACA343219775CFAP45c.724A>T (p.Arg242Trp)
c.469A>T (p.Arg157Trp)
1g.159886554T>CCA343219776CFAP45c.724A>G (p.Arg242Gly)
c.469A>G (p.Arg157Gly)
1g.159886554T>GCA421350607CFAP45c.724A>C (p.Arg242=)
c.469A>C (p.Arg157=)
1g.159886555T>ACA343219777CFAP45c.723A>T (p.Gln241His)
c.468A>T (p.Gln156His)
 dbSNP gnomAD v2 gnomAD v4
1g.159886555T>CCA1191064CFAP45c.723A>G (p.Gln241=)
c.468A>G (p.Gln156=)
 dbSNP ExAC gnomAD v4
1g.159886555T>GCA343219778CFAP45c.723A>C (p.Gln241His)
c.468A>C (p.Gln156His)
1g.159886555T=CA1202094317CFAP45c.723A= (p.Gln241=)
c.468A= (p.Gln156=)
1g.159886556T>ACA343219779CFAP45c.722A>T (p.Gln241Leu)
c.467A>T (p.Gln156Leu)
1g.159886556T>CCA343219780CFAP45c.722A>G (p.Gln241Arg)
c.467A>G (p.Gln156Arg)
1g.159886556T>GCA343219781CFAP45c.722A>C (p.Gln241Pro)
c.467A>C (p.Gln156Pro)
1g.159886557G>ACA343219783CFAP45c.721C>T (p.Gln241Ter)
c.466C>T (p.Gln156Ter)
 ClinVar dbSNP gnomAD v4
1g.159886557G>CCA343219784CFAP45c.721C>G (p.Gln241Glu)
c.466C>G (p.Gln156Glu)
1g.159886557G>TCA343219782CFAP45c.721C>A (p.Gln241Lys)
c.466C>A (p.Gln156Lys)
1g.159886558A>CCA343219785CFAP45c.720T>G (p.Ile240Met)
c.465T>G (p.Ile155Met)
1g.159886558A>GCA421350610CFAP45c.720T>C (p.Ile240=)
c.465T>C (p.Ile155=)
1g.159886558A>TCA421350609CFAP45c.720T>A (p.Ile240=)
c.465T>A (p.Ile155=)

Number of alleles fetched