Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
1g.159886559A>CCA343219786CFAP45c.719T>G (p.Ile240Ser)
c.464T>G (p.Ile155Ser)
1g.159886559A>GCA343219787CFAP45c.719T>C (p.Ile240Thr)
c.464T>C (p.Ile155Thr)
1g.159886559A>TCA343219788CFAP45c.719T>A (p.Ile240Asn)
c.464T>A (p.Ile155Asn)
1g.159886560T>ACA1191065CFAP45c.718A>T (p.Ile240Phe)
c.463A>T (p.Ile155Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886560T>CCA343219789CFAP45c.718A>G (p.Ile240Val)
c.463A>G (p.Ile155Val)
1g.159886560T>GCA343219790CFAP45c.718A>C (p.Ile240Leu)
c.463A>C (p.Ile155Leu)
1g.159886560T=CA1202094318CFAP45c.718A= (p.Ile240=)
c.463A= (p.Ile155=)
1g.159886561G>ACA421350614CFAP45c.717C>T (p.Ser239=)
c.462C>T (p.Ser154=)
1g.159886561G>CCA421350615CFAP45c.717C>G (p.Ser239=)
c.462C>G (p.Ser154=)
1g.159886561G>TCA421350616CFAP45c.717C>A (p.Ser239=)
c.462C>A (p.Ser154=)
1g.159886562G>ACA343219793CFAP45c.716C>T (p.Ser239Phe)
c.461C>T (p.Ser154Phe)
1g.159886562G>CCA343219791CFAP45c.716C>G (p.Ser239Cys)
c.461C>G (p.Ser154Cys)
1g.159886562G>TCA343219792CFAP45c.716C>A (p.Ser239Tyr)
c.461C>A (p.Ser154Tyr)
1g.159886563A=CA1202094319CFAP45c.715T= (p.Ser239=)
c.460T= (p.Ser154=)
1g.159886563A>CCA343219794CFAP45c.715T>G (p.Ser239Ala)
c.460T>G (p.Ser154Ala)
1g.159886563A>GCA343219795CFAP45c.715T>C (p.Ser239Pro)
c.460T>C (p.Ser154Pro)
1g.159886563A>TCA343219796CFAP45c.715T>A (p.Ser239Thr)
c.460T>A (p.Ser154Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.159886564T>ACA343219797CFAP45c.714A>T (p.Lys238Asn)
c.459A>T (p.Lys153Asn)
1g.159886564T>CCA421350619CFAP45c.714A>G (p.Lys238=)
c.459A>G (p.Lys153=)
1g.159886564T>GCA343219798CFAP45c.714A>C (p.Lys238Asn)
c.459A>C (p.Lys153Asn)
1g.159886565T>ACA343219799CFAP45c.713A>T (p.Lys238Ile)
c.458A>T (p.Lys153Ile)
1g.159886565T>CCA343219801CFAP45c.713A>G (p.Lys238Arg)
c.458A>G (p.Lys153Arg)
1g.159886565T>GCA343219800CFAP45c.713A>C (p.Lys238Thr)
c.458A>C (p.Lys153Thr)
1g.159886566T>ACA343219802CFAP45c.712A>T (p.Lys238Ter)
c.457A>T (p.Lys153Ter)
1g.159886566T>CCA31389763CFAP45c.712A>G (p.Lys238Glu)
c.457A>G (p.Lys153Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.159886566T>GCA343219803CFAP45c.712A>C (p.Lys238Gln)
c.457A>C (p.Lys153Gln)
1g.159886566T=CA1147884772CFAP45c.712A= (p.Lys238=)
c.457A= (p.Lys153=)
1g.159886567C>ACA343219804CFAP45c.711G>T (p.Gln237His)
c.456G>T (p.Gln152His)
 dbSNP
1g.159886567C=CA1202094320CFAP45c.711G= (p.Gln237=)
c.456G= (p.Gln152=)
1g.159886567C>GCA343219805CFAP45c.711G>C (p.Gln237His)
c.456G>C (p.Gln152His)
1g.159886567C>TCA421350621CFAP45c.711G>A (p.Gln237=)
c.456G>A (p.Gln152=)
1g.159886568T>ACA343219806CFAP45c.710A>T (p.Gln237Leu)
c.455A>T (p.Gln152Leu)
1g.159886568T>CCA343219807CFAP45c.710A>G (p.Gln237Arg)
c.455A>G (p.Gln152Arg)
1g.159886568T>GCA343219808CFAP45c.710A>C (p.Gln237Pro)
c.455A>C (p.Gln152Pro)
1g.159886569G>ACA343219809CFAP45c.709C>T (p.Gln237Ter)
c.454C>T (p.Gln152Ter)
1g.159886569G>CCA343219810CFAP45c.709C>G (p.Gln237Glu)
c.454C>G (p.Gln152Glu)
1g.159886569G>TCA343219811CFAP45c.709C>A (p.Gln237Lys)
c.454C>A (p.Gln152Lys)
1g.159886570C>ACA421350623CFAP45c.708G>T (p.Arg236=)
c.453G>T (p.Arg151=)
 gnomAD v4
1g.159886570C=CA1202094321CFAP45c.708G= (p.Arg236=)
c.453G= (p.Arg151=)
1g.159886570C>GCA421350624CFAP45c.708G>C (p.Arg236=)
c.453G>C (p.Arg151=)
1g.159886570C>TCA421350625CFAP45c.708G>A (p.Arg236=)
c.453G>A (p.Arg151=)
 COSMIC
1g.159886571C>ACA343219812CFAP45c.707G>T (p.Arg236Leu)
c.452G>T (p.Arg151Leu)
1g.159886571C=CA1141796791CFAP45c.707G= (p.Arg236=)
c.452G= (p.Arg151=)
1g.159886571C>GCA1191066CFAP45c.707G>C (p.Arg236Pro)
c.452G>C (p.Arg151Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886571C>TCA1191067CFAP45c.707G>A (p.Arg236Gln)
c.452G>A (p.Arg151Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.159886571_159886645dupCA1008314391CFAP45c.633_707dup (p.Arg236_Gln237insLeuGluLysGlnGlnIleGlnLysGluLeuAspThrGluGluLysArgLeuAspGlnMetMetGluValGluArg)
c.378_452dup (p.Arg151_Gln152insLeuGluLysGlnGlnIleGlnLysGluLeuAspThrGluGluLysArgLeuAspGlnMetMetGluValGluArg)
 dbSNP gnomAD v3 gnomAD v4
1g.159886572G>ACA1191068CFAP45c.706C>T (p.Arg236Trp)
c.451C>T (p.Arg151Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886572G>CCA343219813CFAP45c.706C>G (p.Arg236Gly)
c.451C>G (p.Arg151Gly)
1g.159886572G=CA1141251722CFAP45c.706C= (p.Arg236=)
c.451C= (p.Arg151=)
1g.159886572G>TCA421350629CFAP45c.706C>A (p.Arg236=)
c.451C>A (p.Arg151=)
1g.159886573C>ACA343219814CFAP45c.705G>T (p.Glu235Asp)
c.450G>T (p.Glu150Asp)
1g.159886573C>GCA343219815CFAP45c.705G>C (p.Glu235Asp)
c.450G>C (p.Glu150Asp)
1g.159886573C>TCA421350630CFAP45c.705G>A (p.Glu235=)
c.450G>A (p.Glu150=)
 COSMIC
1g.159886574T>ACA343219816CFAP45c.704A>T (p.Glu235Val)
c.449A>T (p.Glu150Val)
1g.159886574T>CCA343219817CFAP45c.704A>G (p.Glu235Gly)
c.449A>G (p.Glu150Gly)
1g.159886574T>GCA343219818CFAP45c.704A>C (p.Glu235Ala)
c.449A>C (p.Glu150Ala)
1g.159886575C>ACA343219819CFAP45c.703G>T (p.Glu235Ter)
c.448G>T (p.Glu150Ter)
1g.159886575C>GCA343219820CFAP45c.703G>C (p.Glu235Gln)
c.448G>C (p.Glu150Gln)
1g.159886575C>TCA343219821CFAP45c.703G>A (p.Glu235Lys)
c.448G>A (p.Glu150Lys)
1g.159886576C>ACA421350632CFAP45c.702G>T (p.Val234=)
c.447G>T (p.Val149=)
1g.159886576C>GCA421350633CFAP45c.702G>C (p.Val234=)
c.447G>C (p.Val149=)
1g.159886576C>TCA421350634CFAP45c.702G>A (p.Val234=)
c.447G>A (p.Val149=)
1g.159886577A=CA1202094322CFAP45c.701T= (p.Val234=)
c.446T= (p.Val149=)
1g.159886577A>CCA343219822CFAP45c.701T>G (p.Val234Gly)
c.446T>G (p.Val149Gly)
1g.159886577A>GCA343219823CFAP45c.701T>C (p.Val234Ala)
c.446T>C (p.Val149Ala)
 dbSNP gnomAD v2
1g.159886577A>TCA343219824CFAP45c.701T>A (p.Val234Glu)
c.446T>A (p.Val149Glu)
1g.159886578C>ACA343219825CFAP45c.700G>T (p.Val234Leu)
c.445G>T (p.Val149Leu)
 gnomAD v4
1g.159886578C=CA1202094323CFAP45c.700G= (p.Val234=)
c.445G= (p.Val149=)
1g.159886578C>GCA343219827CFAP45c.700G>C (p.Val234Leu)
c.445G>C (p.Val149Leu)
1g.159886578C>TCA343219826CFAP45c.700G>A (p.Val234Met)
c.445G>A (p.Val149Met)
 dbSNP gnomAD v4 COSMIC
1g.159886579T>ACA343219828CFAP45c.699A>T (p.Glu233Asp)
c.444A>T (p.Glu148Asp)
1g.159886579T>CCA421350635CFAP45c.699A>G (p.Glu233=)
c.444A>G (p.Glu148=)
1g.159886579T>GCA343219829CFAP45c.699A>C (p.Glu233Asp)
c.444A>C (p.Glu148Asp)
1g.159886580T>ACA343219830CFAP45c.698A>T (p.Glu233Val)
c.443A>T (p.Glu148Val)
1g.159886580T>CCA343219831CFAP45c.698A>G (p.Glu233Gly)
c.443A>G (p.Glu148Gly)
1g.159886580T>GCA343219832CFAP45c.698A>C (p.Glu233Ala)
c.443A>C (p.Glu148Ala)
1g.159886581C>ACA1191069CFAP45c.697G>T (p.Glu233Ter)
c.442G>T (p.Glu148Ter)
 dbSNP ExAC gnomAD v2
1g.159886581C=CA1202094324CFAP45c.697G= (p.Glu233=)
c.442G= (p.Glu148=)
1g.159886581C>GCA343219833CFAP45c.697G>C (p.Glu233Gln)
c.442G>C (p.Glu148Gln)
1g.159886581C>TCA343219834CFAP45c.697G>A (p.Glu233Lys)
c.442G>A (p.Glu148Lys)
1g.159886582C>ACA343219835CFAP45c.696G>T (p.Met232Ile)
c.441G>T (p.Met147Ile)
1g.159886582C>GCA343219836CFAP45c.696G>C (p.Met232Ile)
c.441G>C (p.Met147Ile)
1g.159886582C>TCA343219837CFAP45c.696G>A (p.Met232Ile)
c.441G>A (p.Met147Ile)
 gnomAD v4
1g.159886583A>CCA343219839CFAP45c.695T>G (p.Met232Arg)
c.440T>G (p.Met147Arg)
1g.159886583A>GCA343219840CFAP45c.695T>C (p.Met232Thr)
c.440T>C (p.Met147Thr)
1g.159886583A>TCA343219838CFAP45c.695T>A (p.Met232Lys)
c.440T>A (p.Met147Lys)
1g.159886584T>ACA343219842CFAP45c.694A>T (p.Met232Leu)
c.439A>T (p.Met147Leu)
1g.159886584T>CCA343219841CFAP45c.694A>G (p.Met232Val)
c.439A>G (p.Met147Val)
1g.159886584T>GCA343219843CFAP45c.694A>C (p.Met232Leu)
c.439A>C (p.Met147Leu)
1g.159886585C>ACA343219844CFAP45c.693G>T (p.Met231Ile)
c.438G>T (p.Met146Ile)
1g.159886585C>GCA343219846CFAP45c.693G>C (p.Met231Ile)
c.438G>C (p.Met146Ile)
1g.159886585C>TCA343219845CFAP45c.693G>A (p.Met231Ile)
c.438G>A (p.Met146Ile)
1g.159886586A=CA1202094325CFAP45c.692T= (p.Met231=)
c.437T= (p.Met146=)
1g.159886586A>CCA343219847CFAP45c.692T>G (p.Met231Arg)
c.437T>G (p.Met146Arg)
1g.159886586A>GCA343219848CFAP45c.692T>C (p.Met231Thr)
c.437T>C (p.Met146Thr)
1g.159886586A>TCA1191070CFAP45c.692T>A (p.Met231Lys)
c.437T>A (p.Met146Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886587T>ACA343219849CFAP45c.691A>T (p.Met231Leu)
c.436A>T (p.Met146Leu)
1g.159886587T>CCA343219850CFAP45c.691A>G (p.Met231Val)
c.436A>G (p.Met146Val)
 gnomAD v4
1g.159886587T>GCA343219851CFAP45c.691A>C (p.Met231Leu)
c.436A>C (p.Met146Leu)
1g.159886588C>ACA343219852CFAP45c.690G>T (p.Gln230His)
c.435G>T (p.Gln145His)
1g.159886588C>GCA343219853CFAP45c.690G>C (p.Gln230His)
c.435G>C (p.Gln145His)
1g.159886588C>TCA421350639CFAP45c.690G>A (p.Gln230=)
c.435G>A (p.Gln145=)
 gnomAD v4
1g.159886589T>ACA343219854CFAP45c.689A>T (p.Gln230Leu)
c.434A>T (p.Gln145Leu)
1g.159886589T>CCA343219855CFAP45c.689A>G (p.Gln230Arg)
c.434A>G (p.Gln145Arg)
1g.159886589T>GCA343219856CFAP45c.689A>C (p.Gln230Pro)
c.434A>C (p.Gln145Pro)
1g.159886590G>ACA343219857CFAP45c.688C>T (p.Gln230Ter)
c.433C>T (p.Gln145Ter)
1g.159886590G>CCA343219858CFAP45c.688C>G (p.Gln230Glu)
c.433C>G (p.Gln145Glu)
1g.159886590G>TCA343219859CFAP45c.688C>A (p.Gln230Lys)
c.433C>A (p.Gln145Lys)
1g.159886591A>CCA343219861CFAP45c.687T>G (p.Asp229Glu)
c.432T>G (p.Asp144Glu)
1g.159886591A>GCA421350641CFAP45c.687T>C (p.Asp229=)
c.432T>C (p.Asp144=)
1g.159886591A>TCA343219860CFAP45c.687T>A (p.Asp229Glu)
c.432T>A (p.Asp144Glu)
1g.159886592T>ACA343219862CFAP45c.686A>T (p.Asp229Val)
c.431A>T (p.Asp144Val)
1g.159886592T>CCA343219863CFAP45c.686A>G (p.Asp229Gly)
c.431A>G (p.Asp144Gly)
1g.159886592T>GCA343219864CFAP45c.686A>C (p.Asp229Ala)
c.431A>C (p.Asp144Ala)
1g.159886593C>ACA343219865CFAP45c.685G>T (p.Asp229Tyr)
c.430G>T (p.Asp144Tyr)
1g.159886593C>GCA343219866CFAP45c.685G>C (p.Asp229His)
c.430G>C (p.Asp144His)
1g.159886593C>TCA343219867CFAP45c.685G>A (p.Asp229Asn)
c.430G>A (p.Asp144Asn)
1g.159886594C>ACA343219868CFAP45c.684G>T (p.Leu228Phe)
c.429G>T (p.Leu143Phe)
1g.159886594C>GCA343219869CFAP45c.684G>C (p.Leu228Phe)
c.429G>C (p.Leu143Phe)
1g.159886594C>TCA421350642CFAP45c.684G>A (p.Leu228=)
c.429G>A (p.Leu143=)
1g.159886595A>CCA343219870CFAP45c.683T>G (p.Leu228Trp)
c.428T>G (p.Leu143Trp)
1g.159886595A>GCA343219871CFAP45c.683T>C (p.Leu228Ser)
c.428T>C (p.Leu143Ser)
1g.159886595A>TCA343219872CFAP45c.683T>A (p.Leu228Ter)
c.428T>A (p.Leu143Ter)
1g.159886596A>CCA343219873CFAP45c.682T>G (p.Leu228Val)
c.427T>G (p.Leu143Val)
1g.159886596A>GCA421350643CFAP45c.682T>C (p.Leu228=)
c.427T>C (p.Leu143=)
1g.159886596A>TCA343219874CFAP45c.682T>A (p.Leu228Met)
c.427T>A (p.Leu143Met)
1g.159886597C>ACA421350644CFAP45c.681G>T (p.Arg227=)
c.426G>T (p.Arg142=)
1g.159886597C=CA1202094326CFAP45c.681G= (p.Arg227=)
c.426G= (p.Arg142=)
1g.159886597C>GCA421350645CFAP45c.681G>C (p.Arg227=)
c.426G>C (p.Arg142=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.159886597C>TCA421350646CFAP45c.681G>A (p.Arg227=)
c.426G>A (p.Arg142=)
 dbSNP gnomAD v3 gnomAD v4
1g.159886598C>ACA343219875CFAP45c.680G>T (p.Arg227Leu)
c.425G>T (p.Arg142Leu)
1g.159886598C=CA1141259654CFAP45c.680G= (p.Arg227=)
c.425G= (p.Arg142=)
1g.159886598C>GCA343219876CFAP45c.680G>C (p.Arg227Pro)
c.425G>C (p.Arg142Pro)
1g.159886598C>TCA1191071CFAP45c.680G>A (p.Arg227Gln)
c.425G>A (p.Arg142Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886599G>ACA1191073CFAP45c.679C>T (p.Arg227Trp)
c.424C>T (p.Arg142Trp)
c.424C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.159886599G>CCA1191072CFAP45c.679C>G (p.Arg227Gly)
c.424C>G (p.Arg142Gly)
c.424C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886599G=CA1149039535CFAP45c.679C= (p.Arg227=)
c.424C= (p.Arg142=)
c.424C=
1g.159886599G>TCA421350647CFAP45c.679C>A (p.Arg227=)
c.424C>A (p.Arg142=)
c.424C>A
 dbSNP gnomAD v4
1g.159886600C>ACA343219877CFAP45c.678G>T (p.Lys226Asn)
c.423G>T (p.Lys141Asn)
1g.159886600C>GCA343219878CFAP45c.678G>C (p.Lys226Asn)
c.423G>C (p.Lys141Asn)
1g.159886600C>TCA421350649CFAP45c.678G>A (p.Lys226=)
c.423G>A (p.Lys141=)
1g.159886601T>ACA343219879CFAP45c.677A>T (p.Lys226Met)
c.422A>T (p.Lys141Met)
1g.159886601T>CCA343219880CFAP45c.677A>G (p.Lys226Arg)
c.422A>G (p.Lys141Arg)
 COSMIC
1g.159886601T>GCA343219881CFAP45c.677A>C (p.Lys226Thr)
c.422A>C (p.Lys141Thr)
1g.159886602T>ACA343219882CFAP45c.676A>T (p.Lys226Ter)
c.421A>T (p.Lys141Ter)
1g.159886602T>CCA343219883CFAP45c.676A>G (p.Lys226Glu)
c.421A>G (p.Lys141Glu)
1g.159886602T>GCA343219884CFAP45c.676A>C (p.Lys226Gln)
c.421A>C (p.Lys141Gln)
1g.159886603C>ACA343219885CFAP45c.675G>T (p.Glu225Asp)
c.420G>T (p.Glu140Asp)
1g.159886603C>GCA343219886CFAP45c.675G>C (p.Glu225Asp)
c.420G>C (p.Glu140Asp)
1g.159886603C>TCA421350650CFAP45c.675G>A (p.Glu225=)
c.420G>A (p.Glu140=)
1g.159886604T>ACA343219888CFAP45c.674A>T (p.Glu225Val)
c.419A>T (p.Glu140Val)
1g.159886604T>CCA1191074CFAP45c.674A>G (p.Glu225Gly)
c.419A>G (p.Glu140Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886604T>GCA343219887CFAP45c.674A>C (p.Glu225Ala)
c.419A>C (p.Glu140Ala)
1g.159886604T=CA1202094327CFAP45c.674A= (p.Glu225=)
c.419A= (p.Glu140=)
1g.159886605C>ACA343219889CFAP45c.673G>T (p.Glu225Ter)
c.418G>T (p.Glu140Ter)
1g.159886605C>GCA343219890CFAP45c.673G>C (p.Glu225Gln)
c.418G>C (p.Glu140Gln)
1g.159886605C>TCA343219891CFAP45c.673G>A (p.Glu225Lys)
c.418G>A (p.Glu140Lys)
1g.159886606T>ACA343219892CFAP45c.672A>T (p.Glu224Asp)
c.417A>T (p.Glu139Asp)
1g.159886606T>CCA421350652CFAP45c.672A>G (p.Glu224=)
c.417A>G (p.Glu139=)
 dbSNP
1g.159886606T>GCA343219893CFAP45c.672A>C (p.Glu224Asp)
c.417A>C (p.Glu139Asp)
 gnomAD v4
1g.159886607T>ACA343219894CFAP45c.671A>T (p.Glu224Val)
c.416A>T (p.Glu139Val)
1g.159886607T>CCA343219895CFAP45c.671A>G (p.Glu224Gly)
c.416A>G (p.Glu139Gly)
1g.159886607T>GCA343219896CFAP45c.671A>C (p.Glu224Ala)
c.416A>C (p.Glu139Ala)
1g.159886608C>ACA343219897CFAP45c.670G>T (p.Glu224Ter)
c.415G>T (p.Glu139Ter)
1g.159886608C=CA1148454454CFAP45c.670G= (p.Glu224=)
c.415G= (p.Glu139=)
1g.159886608C>GCA1191076CFAP45c.670G>C (p.Glu224Gln)
c.415G>C (p.Glu139Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.159886608C>TCA1191075CFAP45c.670G>A (p.Glu224Lys)
c.415G>A (p.Glu139Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched