Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.32609853G>ACA021253CFAP298,CFAP298-TCP10Lc.292C>T (p.Arg98Ter)
c.4C>T (p.Arg2Ter)
c.195C>T
c.241C>T (p.Arg81Ter)
n.652C>T
c.63C>T (p.Asp21=)
n.920C>T
n.426C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609853G>CCA410075735CFAP298,CFAP298-TCP10Lc.292C>G (p.Arg98Gly)
c.4C>G (p.Arg2Gly)
c.195C>G
c.241C>G (p.Arg81Gly)
n.652C>G
c.63C>G (p.Asp21Glu)
n.920C>G
n.426C>G
gnomAD v4
21g.32609853G=CA2386304769CFAP298,CFAP298-TCP10Lc.292C= (p.Arg98=)
c.4C= (p.Arg2=)
c.195C=
c.241C= (p.Arg81=)
n.652C=
c.63C= (p.Asp21=)
n.920C=
n.426C=
21g.32609853G>TCA512144101CFAP298,CFAP298-TCP10Lc.292C>A (p.Arg98=)
c.4C>A (p.Arg2=)
c.195C>A
c.241C>A (p.Arg81=)
n.652C>A
c.63C>A (p.Asp21Glu)
n.920C>A
n.426C>A
21g.32609854T>ACA512144104CFAP298,CFAP298-TCP10Lc.291A>T (p.Gly97=)
c.3A>T (p.Gly1=)
c.194A>T
c.240A>T (p.Gly80=)
n.651A>T
c.62A>T (p.Asp21Val)
n.919A>T
n.425A>T
21g.32609854T>CCA512144103CFAP298,CFAP298-TCP10Lc.291A>G (p.Gly97=)
c.3A>G (p.Gly1=)
c.194A>G
c.240A>G (p.Gly80=)
n.651A>G
c.62A>G (p.Asp21Gly)
n.919A>G
n.425A>G
21g.32609854T>GCA512144102CFAP298,CFAP298-TCP10Lc.291A>C (p.Gly97=)
c.3A>C (p.Gly1=)
c.194A>C
c.240A>C (p.Gly80=)
n.651A>C
c.62A>C (p.Asp21Ala)
n.919A>C
n.425A>C
21g.32609855C>ACA410075738CFAP298,CFAP298-TCP10Lc.290G>T (p.Gly97Val)
c.2G>T (p.Gly1Val)
c.193G>T
c.239G>T (p.Gly80Val)
n.650G>T
c.61G>T (p.Asp21Tyr)
n.918G>T
n.424G>T
21g.32609855C>GCA410075747CFAP298,CFAP298-TCP10Lc.290G>C (p.Gly97Ala)
c.2G>C (p.Gly1Ala)
c.193G>C
c.239G>C (p.Gly80Ala)
n.650G>C
c.61G>C (p.Asp21His)
n.918G>C
n.424G>C
21g.32609855C>TCA410075746CFAP298,CFAP298-TCP10Lc.290G>A (p.Gly97Glu)
c.2G>A (p.Gly1Glu)
c.193G>A
c.239G>A (p.Gly80Glu)
n.650G>A
c.61G>A (p.Asp21Asn)
n.918G>A
n.424G>A
21g.32609856C>ACA410075749CFAP298,CFAP298-TCP10Lc.289G>T (p.Gly97Ter)
c.1G>T (p.Gly1Ter)
c.192G>T
c.238G>T (p.Gly80Ter)
n.649G>T
c.60G>T (p.Leu20Phe)
n.917G>T
n.423G>T
21g.32609856C>GCA410075753CFAP298,CFAP298-TCP10Lc.289G>C (p.Gly97Arg)
c.1G>C (p.Gly1Arg)
c.192G>C
c.238G>C (p.Gly80Arg)
n.649G>C
c.60G>C (p.Leu20Phe)
n.917G>C
n.423G>C
21g.32609856C>TCA410075754CFAP298,CFAP298-TCP10Lc.289G>A (p.Gly97Arg)
c.1G>A (p.Gly1Arg)
c.192G>A
c.238G>A (p.Gly80Arg)
n.649G>A
c.60G>A (p.Leu20=)
n.917G>A
n.423G>A
gnomAD v4
21g.32609857A>CCA410075756CFAP298,CFAP298-TCP10Lc.288T>G (p.Ile96Met)
c.191T>G
c.237T>G (p.Ile79Met)
n.648T>G
c.59T>G (p.Leu20Trp)
n.916T>G
n.422T>G
21g.32609857A>GCA512144106CFAP298,CFAP298-TCP10Lc.288T>C (p.Ile96=)
c.191T>C
c.237T>C (p.Ile79=)
n.648T>C
c.59T>C (p.Leu20Ser)
n.916T>C
n.422T>C
gnomAD v4
21g.32609857A>TCA512144105CFAP298,CFAP298-TCP10Lc.288T>A (p.Ile96=)
c.191T>A
c.237T>A (p.Ile79=)
n.648T>A
c.59T>A (p.Leu20Ter)
n.916T>A
n.422T>A
21g.32609858A=CA2386304770CFAP298,CFAP298-TCP10Lc.287T= (p.Ile96=)
c.190T=
c.236T= (p.Ile79=)
n.647T=
c.58T= (p.Leu20=)
n.915T=
n.421T=
21g.32609858A>CCA410075760CFAP298,CFAP298-TCP10Lc.287T>G (p.Ile96Ser)
c.190T>G
c.236T>G (p.Ile79Ser)
n.647T>G
c.58T>G (p.Leu20Val)
n.915T>G
n.421T>G
21g.32609858A>GCA10002930CFAP298,CFAP298-TCP10Lc.287T>C (p.Ile96Thr)
c.190T>C
c.236T>C (p.Ile79Thr)
n.647T>C
c.58T>C (p.Leu20=)
n.915T>C
n.421T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609858A>TCA410075759CFAP298,CFAP298-TCP10Lc.287T>A (p.Ile96Asn)
c.190T>A
c.236T>A (p.Ile79Asn)
n.647T>A
c.58T>A (p.Leu20Met)
n.915T>A
n.421T>A
21g.32609859T>ACA410075761CFAP298,CFAP298-TCP10Lc.286A>T (p.Ile96Phe)
c.189A>T
c.235A>T (p.Ile79Phe)
n.646A>T
c.57A>T (p.Ile19=)
n.914A>T
n.420A>T
21g.32609859T>CCA410075762CFAP298,CFAP298-TCP10Lc.286A>G (p.Ile96Val)
c.189A>G
c.235A>G (p.Ile79Val)
n.646A>G
c.57A>G (p.Ile19Met)
n.914A>G
n.420A>G
dbSNP gnomAD v3 gnomAD v4
21g.32609859T>GCA410075764CFAP298,CFAP298-TCP10Lc.286A>C (p.Ile96Leu)
c.189A>C
c.235A>C (p.Ile79Leu)
n.646A>C
c.57A>C (p.Ile19=)
n.914A>C
n.420A>C
21g.32609859T=CA2386304771CFAP298,CFAP298-TCP10Lc.286A= (p.Ile96=)
c.189A=
c.235A= (p.Ile79=)
n.646A=
c.57A= (p.Ile19=)
n.914A=
n.420A=
21g.32609860A>CCA410075766CFAP298,CFAP298-TCP10Lc.285T>G (p.Asp95Glu)
c.188T>G
c.234T>G (p.Asp78Glu)
n.645T>G
c.56T>G (p.Ile19Arg)
n.913T>G
n.419T>G
21g.32609860A>GCA512144107CFAP298,CFAP298-TCP10Lc.285T>C (p.Asp95=)
c.188T>C
c.234T>C (p.Asp78=)
n.645T>C
c.56T>C (p.Ile19Thr)
n.913T>C
n.419T>C
21g.32609860A>TCA410075767CFAP298,CFAP298-TCP10Lc.285T>A (p.Asp95Glu)
c.188T>A
c.234T>A (p.Asp78Glu)
n.645T>A
c.56T>A (p.Ile19Lys)
n.913T>A
n.419T>A
21g.32609861T>ACA410075769CFAP298,CFAP298-TCP10Lc.284A>T (p.Asp95Val)
c.187A>T
c.233A>T (p.Asp78Val)
n.644A>T
c.55A>T (p.Ile19Leu)
n.912A>T
n.418A>T
dbSNP gnomAD v4
21g.32609861T>CCA410075773CFAP298,CFAP298-TCP10Lc.284A>G (p.Asp95Gly)
c.187A>G
c.233A>G (p.Asp78Gly)
n.644A>G
c.55A>G (p.Ile19Val)
n.912A>G
n.418A>G
21g.32609861T>GCA410075775CFAP298,CFAP298-TCP10Lc.284A>C (p.Asp95Ala)
c.187A>C
c.233A>C (p.Asp78Ala)
n.644A>C
c.55A>C (p.Ile19Leu)
n.912A>C
n.418A>C
21g.32609861T=CA2386304772CFAP298,CFAP298-TCP10Lc.284A= (p.Asp95=)
c.187A=
c.233A= (p.Asp78=)
n.644A=
c.55A= (p.Ile19=)
n.912A=
n.418A=
21g.32609862C>ACA410075777CFAP298,CFAP298-TCP10Lc.283G>T (p.Asp95Tyr)
c.186G>T
c.232G>T (p.Asp78Tyr)
n.643G>T
c.54G>T (p.Met18Ile)
n.911G>T
n.417G>T
21g.32609862C=CA2386304773CFAP298,CFAP298-TCP10Lc.283G= (p.Asp95=)
c.186G=
c.232G= (p.Asp78=)
n.643G=
c.54G= (p.Met18=)
n.911G=
n.417G=
21g.32609862C>GCA410075778CFAP298,CFAP298-TCP10Lc.283G>C (p.Asp95His)
c.186G>C
c.232G>C (p.Asp78His)
n.643G>C
c.54G>C (p.Met18Ile)
n.911G>C
n.417G>C
21g.32609862C>TCA410075780CFAP298,CFAP298-TCP10Lc.283G>A (p.Asp95Asn)
c.186G>A
c.232G>A (p.Asp78Asn)
n.643G>A
c.54G>A (p.Met18Ile)
n.911G>A
n.417G>A
dbSNP
21g.32609863A>CCA410075781CFAP298,CFAP298-TCP10Lc.282T>G (p.Asp94Glu)
c.185T>G
c.231T>G (p.Asp77Glu)
n.642T>G
c.53T>G (p.Met18Arg)
n.910T>G
n.416T>G
21g.32609863A>GCA512144108CFAP298,CFAP298-TCP10Lc.282T>C (p.Asp94=)
c.185T>C
c.231T>C (p.Asp77=)
n.642T>C
c.53T>C (p.Met18Thr)
n.910T>C
n.416T>C
ClinVar gnomAD v4
21g.32609863A>TCA410075782CFAP298,CFAP298-TCP10Lc.282T>A (p.Asp94Glu)
c.185T>A
c.231T>A (p.Asp77Glu)
n.642T>A
c.53T>A (p.Met18Lys)
n.910T>A
n.416T>A
21g.32609864T>ACA410075786CFAP298,CFAP298-TCP10Lc.281A>T (p.Asp94Val)
c.184A>T
c.230A>T (p.Asp77Val)
n.641A>T
c.52A>T (p.Met18Leu)
n.909A>T
n.415A>T
21g.32609864T>CCA319431569CFAP298,CFAP298-TCP10Lc.281A>G (p.Asp94Gly)
c.184A>G
c.230A>G (p.Asp77Gly)
n.641A>G
c.52A>G (p.Met18Val)
n.909A>G
n.415A>G
dbSNP
21g.32609864T>GCA410075785CFAP298,CFAP298-TCP10Lc.281A>C (p.Asp94Ala)
c.184A>C
c.230A>C (p.Asp77Ala)
n.641A>C
c.52A>C (p.Met18Leu)
n.909A>C
n.415A>C
21g.32609864T=CA2386304774CFAP298,CFAP298-TCP10Lc.281A= (p.Asp94=)
c.184A=
c.230A= (p.Asp77=)
n.641A=
c.52A= (p.Met18=)
n.909A=
n.415A=
21g.32609865C>ACA410075788CFAP298,CFAP298-TCP10Lc.280G>T (p.Asp94Tyr)
c.183G>T
c.229G>T (p.Asp77Tyr)
n.640G>T
c.51G>T (p.Arg17Ser)
n.908G>T
n.414G>T
21g.32609865C>GCA410075789CFAP298,CFAP298-TCP10Lc.280G>C (p.Asp94His)
c.183G>C
c.229G>C (p.Asp77His)
n.640G>C
c.51G>C (p.Arg17Ser)
n.908G>C
n.414G>C
21g.32609865C>TCA410075790CFAP298,CFAP298-TCP10Lc.280G>A (p.Asp94Asn)
c.183G>A
c.229G>A (p.Asp77Asn)
n.640G>A
c.51G>A (p.Arg17=)
n.908G>A
n.414G>A
21g.32609866C>ACA410075792CFAP298,CFAP298-TCP10Lc.279G>T (p.Lys93Asn)
c.182G>T
c.228G>T (p.Lys76Asn)
n.639G>T
c.50G>T (p.Arg17Met)
n.907G>T
n.413G>T
21g.32609866C>GCA410075794CFAP298,CFAP298-TCP10Lc.279G>C (p.Lys93Asn)
c.182G>C
c.228G>C (p.Lys76Asn)
n.639G>C
c.50G>C (p.Arg17Thr)
n.907G>C
n.413G>C
21g.32609866C>TCA512144109CFAP298,CFAP298-TCP10Lc.279G>A (p.Lys93=)
c.182G>A
c.228G>A (p.Lys76=)
n.639G>A
c.50G>A (p.Arg17Lys)
n.907G>A
n.413G>A
21g.32609867T>ACA410075796CFAP298,CFAP298-TCP10Lc.278A>T (p.Lys93Met)
c.181A>T
c.227A>T (p.Lys76Met)
n.638A>T
c.49A>T (p.Arg17Trp)
n.906A>T
n.412A>T
21g.32609867T>CCA410075797CFAP298,CFAP298-TCP10Lc.278A>G (p.Lys93Arg)
c.181A>G
c.227A>G (p.Lys76Arg)
n.638A>G
c.49A>G (p.Arg17Gly)
n.906A>G
n.412A>G
21g.32609867T>GCA410075798CFAP298,CFAP298-TCP10Lc.278A>C (p.Lys93Thr)
c.181A>C
c.227A>C (p.Lys76Thr)
n.638A>C
c.49A>C (p.Arg17=)
n.906A>C
n.412A>C
dbSNP
21g.32609867T=CA2386304775CFAP298,CFAP298-TCP10Lc.278A= (p.Lys93=)
c.181A=
c.227A= (p.Lys76=)
n.638A=
c.49A= (p.Arg17=)
n.906A=
n.412A=
21g.32609868T>ACA410075799CFAP298,CFAP298-TCP10Lc.277A>T (p.Lys93Ter)
c.180A>T
c.226A>T (p.Lys76Ter)
n.637A>T
c.48A>T (p.Lys16Asn)
n.905A>T
n.411A>T
21g.32609868T>CCA410075801CFAP298,CFAP298-TCP10Lc.277A>G (p.Lys93Glu)
c.180A>G
c.226A>G (p.Lys76Glu)
n.637A>G
c.48A>G (p.Lys16=)
n.905A>G
n.411A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32609868T>GCA410075803CFAP298,CFAP298-TCP10Lc.277A>C (p.Lys93Gln)
c.180A>C
c.226A>C (p.Lys76Gln)
n.637A>C
c.48A>C (p.Lys16Asn)
n.905A>C
n.411A>C
21g.32609868T=CA2386304776CFAP298,CFAP298-TCP10Lc.277A= (p.Lys93=)
c.180A=
c.226A= (p.Lys76=)
n.637A=
c.48A= (p.Lys16=)
n.905A=
n.411A=
21g.32609869T>ACA410075805CFAP298,CFAP298-TCP10Lc.276A>T (p.Lys92Asn)
c.179A>T
c.225A>T (p.Lys75Asn)
n.636A>T
c.47A>T (p.Lys16Ile)
n.904A>T
n.410A>T
21g.32609869T>CCA512144110CFAP298,CFAP298-TCP10Lc.276A>G (p.Lys92=)
c.179A>G
c.225A>G (p.Lys75=)
n.636A>G
c.47A>G (p.Lys16Arg)
n.904A>G
n.410A>G
dbSNP
21g.32609869T>GCA410075806CFAP298,CFAP298-TCP10Lc.276A>C (p.Lys92Asn)
c.179A>C
c.225A>C (p.Lys75Asn)
n.636A>C
c.47A>C (p.Lys16Thr)
n.904A>C
n.410A>C
21g.32609869T=CA2386304777CFAP298,CFAP298-TCP10Lc.276A= (p.Lys92=)
c.179A=
c.225A= (p.Lys75=)
n.636A=
c.47A= (p.Lys16=)
n.904A=
n.410A=
21g.32609870T>ACA410075812CFAP298,CFAP298-TCP10Lc.275A>T (p.Lys92Ile)
c.178A>T
c.224A>T (p.Lys75Ile)
n.635A>T
c.46A>T (p.Lys16Ter)
n.903A>T
n.409A>T
21g.32609870T>CCA410075809CFAP298,CFAP298-TCP10Lc.275A>G (p.Lys92Arg)
c.178A>G
c.224A>G (p.Lys75Arg)
n.635A>G
c.46A>G (p.Lys16Glu)
n.903A>G
n.409A>G
21g.32609870T>GCA410075811CFAP298,CFAP298-TCP10Lc.275A>C (p.Lys92Thr)
c.178A>C
c.224A>C (p.Lys75Thr)
n.635A>C
c.46A>C (p.Lys16Gln)
n.903A>C
n.409A>C
21g.32609871T>ACA410075813CFAP298,CFAP298-TCP10Lc.274A>T (p.Lys92Ter)
c.177A>T
c.223A>T (p.Lys75Ter)
n.634A>T
c.45A>T (p.Leu15Phe)
n.902A>T
n.408A>T
gnomAD v4
21g.32609871T>CCA410075815CFAP298,CFAP298-TCP10Lc.274A>G (p.Lys92Glu)
c.177A>G
c.223A>G (p.Lys75Glu)
n.634A>G
c.45A>G (p.Leu15=)
n.902A>G
n.408A>G
21g.32609871T>GCA410075817CFAP298,CFAP298-TCP10Lc.274A>C (p.Lys92Gln)
c.177A>C
c.223A>C (p.Lys75Gln)
n.634A>C
c.45A>C (p.Leu15Phe)
n.902A>C
n.408A>C
21g.32609872A>CCA410075819CFAP298,CFAP298-TCP10Lc.273T>G (p.Phe91Leu)
c.176T>G
c.222T>G (p.Phe74Leu)
n.633T>G
c.44T>G (p.Leu15Ter)
n.901T>G
n.407T>G
21g.32609872A>GCA512144111CFAP298,CFAP298-TCP10Lc.273T>C (p.Phe91=)
c.176T>C
c.222T>C (p.Phe74=)
n.633T>C
c.44T>C (p.Leu15Ser)
n.901T>C
n.407T>C
21g.32609872A>TCA410075820CFAP298,CFAP298-TCP10Lc.273T>A (p.Phe91Leu)
c.176T>A
c.222T>A (p.Phe74Leu)
n.633T>A
c.44T>A (p.Leu15Ter)
n.901T>A
n.407T>A
21g.32609873A>CCA410075822CFAP298,CFAP298-TCP10Lc.272T>G (p.Phe91Cys)
c.175T>G
c.221T>G (p.Phe74Cys)
n.632T>G
c.43T>G (p.Leu15Val)
n.900T>G
n.406T>G
21g.32609873A>GCA410075824CFAP298,CFAP298-TCP10Lc.272T>C (p.Phe91Ser)
c.175T>C
c.221T>C (p.Phe74Ser)
n.632T>C
c.43T>C (p.Leu15=)
n.900T>C
n.406T>C
21g.32609873A>TCA410075825CFAP298,CFAP298-TCP10Lc.272T>A (p.Phe91Tyr)
c.175T>A
c.221T>A (p.Phe74Tyr)
n.632T>A
c.43T>A (p.Leu15Ile)
n.900T>A
n.406T>A
21g.32609874A>CCA410075827CFAP298,CFAP298-TCP10Lc.271T>G (p.Phe91Val)
c.174T>G
c.220T>G (p.Phe74Val)
n.631T>G
c.42T>G (p.Cys14Trp)
n.899T>G
n.405T>G
21g.32609874A>GCA410075828CFAP298,CFAP298-TCP10Lc.271T>C (p.Phe91Leu)
c.174T>C
c.220T>C (p.Phe74Leu)
n.631T>C
c.42T>C (p.Cys14=)
n.899T>C
n.405T>C
21g.32609874A>TCA410075829CFAP298,CFAP298-TCP10Lc.271T>A (p.Phe91Ile)
c.174T>A
c.220T>A (p.Phe74Ile)
n.631T>A
c.42T>A (p.Cys14Ter)
n.899T>A
n.405T>A
21g.32609875C>ACA512144113CFAP298,CFAP298-TCP10Lc.270G>T (p.Val90=)
c.173G>T
c.219G>T (p.Val73=)
n.630G>T
c.41G>T (p.Cys14Phe)
n.898G>T
n.404G>T
21g.32609875C=CA2386304778CFAP298,CFAP298-TCP10Lc.270G= (p.Val90=)
c.173G=
c.219G= (p.Val73=)
n.630G=
c.41G= (p.Cys14=)
n.898G=
n.404G=
21g.32609875C>GCA512144112CFAP298,CFAP298-TCP10Lc.270G>C (p.Val90=)
c.173G>C
c.219G>C (p.Val73=)
n.630G>C
c.41G>C (p.Cys14Ser)
n.898G>C
n.404G>C
21g.32609875C>TCA10002931CFAP298,CFAP298-TCP10Lc.270G>A (p.Val90=)
c.173G>A
c.219G>A (p.Val73=)
n.630G>A
c.41G>A (p.Cys14Tyr)
n.898G>A
n.404G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609876A=CA2386304779CFAP298,CFAP298-TCP10Lc.269T= (p.Val90=)
c.172T=
c.218T= (p.Val73=)
n.629T=
c.40T= (p.Cys14=)
n.897T=
n.403T=
21g.32609876A>CCA410075831CFAP298,CFAP298-TCP10Lc.269T>G (p.Val90Gly)
c.172T>G
c.218T>G (p.Val73Gly)
n.629T>G
c.40T>G (p.Cys14Gly)
n.897T>G
n.403T>G
21g.32609876A>GCA10002932CFAP298,CFAP298-TCP10Lc.269T>C (p.Val90Ala)
c.172T>C
c.218T>C (p.Val73Ala)
n.629T>C
c.40T>C (p.Cys14Arg)
n.897T>C
n.403T>C
dbSNP ExAC gnomAD v2 gnomAD v4
21g.32609876A>TCA410075830CFAP298,CFAP298-TCP10Lc.269T>A (p.Val90Glu)
c.172T>A
c.218T>A (p.Val73Glu)
n.629T>A
c.40T>A (p.Cys14Ser)
n.897T>A
n.403T>A
21g.32609877C>ACA410075832CFAP298,CFAP298-TCP10Lc.268G>T (p.Val90Leu)
c.171G>T
c.217G>T (p.Val73Leu)
n.628G>T
c.39G>T (p.Gln13His)
n.896G>T
n.402G>T
21g.32609877C>GCA410075833CFAP298,CFAP298-TCP10Lc.268G>C (p.Val90Leu)
c.171G>C
c.217G>C (p.Val73Leu)
n.628G>C
c.39G>C (p.Gln13His)
n.896G>C
n.402G>C
gnomAD v4
21g.32609877C>TCA410075835CFAP298,CFAP298-TCP10Lc.268G>A (p.Val90Met)
c.171G>A
c.217G>A (p.Val73Met)
n.628G>A
c.39G>A (p.Gln13=)
n.896G>A
n.402G>A
gnomAD v4
21g.32609878T>ACA512144115CFAP298,CFAP298-TCP10Lc.267A>T (p.Ala89=)
c.170A>T
c.216A>T (p.Ala72=)
n.627A>T
c.38A>T (p.Gln13Leu)
n.895A>T
n.401A>T
21g.32609878T>CCA512144116CFAP298,CFAP298-TCP10Lc.267A>G (p.Ala89=)
c.170A>G
c.216A>G (p.Ala72=)
n.627A>G
c.38A>G (p.Gln13Arg)
n.895A>G
n.401A>G
dbSNP gnomAD v3 gnomAD v4
21g.32609878T>GCA512144114CFAP298,CFAP298-TCP10Lc.267A>C (p.Ala89=)
c.170A>C
c.216A>C (p.Ala72=)
n.627A>C
c.38A>C (p.Gln13Pro)
n.895A>C
n.401A>C
21g.32609878T=CA2386304780CFAP298,CFAP298-TCP10Lc.267A= (p.Ala89=)
c.170A=
c.216A= (p.Ala72=)
n.627A=
c.38A= (p.Gln13=)
n.895A=
n.401A=
21g.32609879G>ACA410075837CFAP298,CFAP298-TCP10Lc.266C>T (p.Ala89Val)
c.169C>T
c.215C>T (p.Ala72Val)
n.626C>T
c.37C>T (p.Gln13Ter)
n.894C>T
n.400C>T
dbSNP
21g.32609879G>CCA410075842CFAP298,CFAP298-TCP10Lc.266C>G (p.Ala89Gly)
c.169C>G
c.215C>G (p.Ala72Gly)
n.626C>G
c.37C>G (p.Gln13Glu)
n.894C>G
n.400C>G
21g.32609879G=CA2386304781CFAP298,CFAP298-TCP10Lc.266C= (p.Ala89=)
c.169C=
c.215C= (p.Ala72=)
n.626C=
c.37C= (p.Gln13=)
n.894C=
n.400C=
21g.32609879G>TCA410075843CFAP298,CFAP298-TCP10Lc.266C>A (p.Ala89Glu)
c.169C>A
c.215C>A (p.Ala72Glu)
n.626C>A
c.37C>A (p.Gln13Lys)
n.894C>A
n.400C>A
21g.32609880C>ACA410075848CFAP298,CFAP298-TCP10Lc.265G>T (p.Ala89Ser)
c.168G>T
c.214G>T (p.Ala72Ser)
n.625G>T
c.36G>T (p.Val12=)
n.893G>T
n.399G>T
dbSNP gnomAD v4
21g.32609880C=CA2386304782CFAP298,CFAP298-TCP10Lc.265G= (p.Ala89=)
c.168G=
c.214G= (p.Ala72=)
n.625G=
c.36G= (p.Val12=)
n.893G=
n.399G=
21g.32609880C>GCA410075847CFAP298,CFAP298-TCP10Lc.265G>C (p.Ala89Pro)
c.168G>C
c.214G>C (p.Ala72Pro)
n.625G>C
c.36G>C (p.Val12=)
n.893G>C
n.399G>C
21g.32609880C>TCA410075846CFAP298,CFAP298-TCP10Lc.265G>A (p.Ala89Thr)
c.168G>A
c.214G>A (p.Ala72Thr)
n.625G>A
c.36G>A (p.Val12=)
n.893G>A
n.399G>A
gnomAD v4
21g.32609881A=CA2386304783CFAP298,CFAP298-TCP10Lc.264T= (p.Gly88=)
c.167T=
c.213T= (p.Gly71=)
n.624T=
c.35T= (p.Val12=)
n.892T=
n.398T=
21g.32609881A>CCA512144118CFAP298,CFAP298-TCP10Lc.264T>G (p.Gly88=)
c.167T>G
c.213T>G (p.Gly71=)
n.624T>G
c.35T>G (p.Val12Gly)
n.892T>G
n.398T>G
dbSNP
21g.32609881A>GCA512144119CFAP298,CFAP298-TCP10Lc.264T>C (p.Gly88=)
c.167T>C
c.213T>C (p.Gly71=)
n.624T>C
c.35T>C (p.Val12Ala)
n.892T>C
n.398T>C
gnomAD v4
21g.32609881A>TCA512144117CFAP298,CFAP298-TCP10Lc.264T>A (p.Gly88=)
c.167T>A
c.213T>A (p.Gly71=)
n.624T>A
c.35T>A (p.Val12Glu)
n.892T>A
n.398T>A
21g.32609882C>ACA410075850CFAP298,CFAP298-TCP10Lc.263G>T (p.Gly88Val)
c.166G>T
c.212G>T (p.Gly71Val)
n.623G>T
c.34G>T (p.Val12Leu)
n.891G>T
n.397G>T
gnomAD v4
21g.32609882C>GCA410075852CFAP298,CFAP298-TCP10Lc.263G>C (p.Gly88Ala)
c.166G>C
c.212G>C (p.Gly71Ala)
n.623G>C
c.34G>C (p.Val12Leu)
n.891G>C
n.397G>C
21g.32609882C>TCA410075854CFAP298,CFAP298-TCP10Lc.263G>A (p.Gly88Asp)
c.166G>A
c.212G>A (p.Gly71Asp)
n.623G>A
c.34G>A (p.Val12Met)
n.891G>A
n.397G>A
gnomAD v4
21g.32609883C>ACA410075856CFAP298,CFAP298-TCP10Lc.262G>T (p.Gly88Cys)
c.165G>T
c.211G>T (p.Gly71Cys)
n.622G>T
c.33G>T (p.Glu11Asp)
n.890G>T
n.396G>T
21g.32609883C>GCA410075857CFAP298,CFAP298-TCP10Lc.262G>C (p.Gly88Arg)
c.165G>C
c.211G>C (p.Gly71Arg)
n.622G>C
c.33G>C (p.Glu11Asp)
n.890G>C
n.396G>C
gnomAD v4
21g.32609883C>TCA410075859CFAP298,CFAP298-TCP10Lc.262G>A (p.Gly88Ser)
c.165G>A
c.211G>A (p.Gly71Ser)
n.622G>A
c.33G>A (p.Glu11=)
n.890G>A
n.396G>A
21g.32609884T>ACA512144122CFAP298,CFAP298-TCP10Lc.261A>T (p.Gly87=)
c.164A>T
c.210A>T (p.Gly70=)
n.621A>T
c.32A>T (p.Glu11Val)
n.889A>T
n.395A>T
21g.32609884T>CCA512144120CFAP298,CFAP298-TCP10Lc.261A>G (p.Gly87=)
c.164A>G
c.210A>G (p.Gly70=)
n.621A>G
c.32A>G (p.Glu11Gly)
n.889A>G
n.395A>G
21g.32609884T>GCA512144121CFAP298,CFAP298-TCP10Lc.261A>C (p.Gly87=)
c.164A>C
c.210A>C (p.Gly70=)
n.621A>C
c.32A>C (p.Glu11Ala)
n.889A>C
n.395A>C
21g.32609885C>ACA410075860CFAP298,CFAP298-TCP10Lc.260G>T (p.Gly87Val)
c.163G>T
c.209G>T (p.Gly70Val)
n.620G>T
c.31G>T (p.Glu11Ter)
n.888G>T
n.394G>T
21g.32609885C>GCA410075864CFAP298,CFAP298-TCP10Lc.260G>C (p.Gly87Ala)
c.163G>C
c.209G>C (p.Gly70Ala)
n.620G>C
c.31G>C (p.Glu11Gln)
n.888G>C
n.394G>C
21g.32609885C>TCA410075862CFAP298,CFAP298-TCP10Lc.260G>A (p.Gly87Glu)
c.163G>A
c.209G>A (p.Gly70Glu)
n.620G>A
c.31G>A (p.Glu11Lys)
n.888G>A
n.394G>A
21g.32609886C>ACA410075866CFAP298,CFAP298-TCP10Lc.259G>T (p.Gly87Ter)
c.162G>T
c.208G>T (p.Gly70Ter)
n.619G>T
c.30G>T (p.Ala10=)
n.887G>T
n.393G>T
21g.32609886C=CA2386304784CFAP298,CFAP298-TCP10Lc.259G= (p.Gly87=)
c.162G=
c.208G= (p.Gly70=)
n.619G=
c.30G= (p.Ala10=)
n.887G=
n.393G=
21g.32609886C>GCA410075868CFAP298,CFAP298-TCP10Lc.259G>C (p.Gly87Arg)
c.162G>C
c.208G>C (p.Gly70Arg)
n.619G>C
c.30G>C (p.Ala10=)
n.887G>C
n.393G>C
21g.32609886C>TCA10002933CFAP298,CFAP298-TCP10Lc.259G>A (p.Gly87Arg)
c.162G>A
c.208G>A (p.Gly70Arg)
n.619G>A
c.30G>A (p.Ala10=)
n.887G>A
n.393G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609887G>ACA10002934CFAP298,CFAP298-TCP10Lc.258C>T (p.Ser86=)
c.161C>T
c.207C>T (p.Ser69=)
n.618C>T
c.29C>T (p.Ala10Val)
n.886C>T
n.392C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.32609887G>CCA410075870CFAP298,CFAP298-TCP10Lc.258C>G (p.Ser86Arg)
c.161C>G
c.207C>G (p.Ser69Arg)
n.618C>G
c.29C>G (p.Ala10Gly)
n.886C>G
n.392C>G
21g.32609887G=CA2386304785CFAP298,CFAP298-TCP10Lc.258C= (p.Ser86=)
c.161C=
c.207C= (p.Ser69=)
n.618C=
c.29C= (p.Ala10=)
n.886C=
n.392C=
21g.32609887G>TCA410075872CFAP298,CFAP298-TCP10Lc.258C>A (p.Ser86Arg)
c.161C>A
c.207C>A (p.Ser69Arg)
n.618C>A
c.29C>A (p.Ala10Glu)
n.886C>A
n.392C>A
dbSNP
21g.32609888C>ACA410075874CFAP298,CFAP298-TCP10Lc.257G>T (p.Ser86Ile)
c.160G>T
c.206G>T (p.Ser69Ile)
n.617G>T
c.28G>T (p.Ala10Ser)
n.885G>T
n.391G>T
21g.32609888C>GCA410075875CFAP298,CFAP298-TCP10Lc.257G>C (p.Ser86Thr)
c.160G>C
c.206G>C (p.Ser69Thr)
n.617G>C
c.28G>C (p.Ala10Pro)
n.885G>C
n.391G>C
21g.32609888C>TCA410075877CFAP298,CFAP298-TCP10Lc.257G>A (p.Ser86Asn)
c.160G>A
c.206G>A (p.Ser69Asn)
n.617G>A
c.28G>A (p.Ala10Thr)
n.885G>A
n.391G>A
21g.32609889T>ACA410075879CFAP298,CFAP298-TCP10Lc.256A>T (p.Ser86Cys)
c.159A>T
c.205A>T (p.Ser69Cys)
n.616A>T
c.27A>T (p.Pro9=)
n.884A>T
n.390A>T
21g.32609889T>CCA410075880CFAP298,CFAP298-TCP10Lc.256A>G (p.Ser86Gly)
c.159A>G
c.205A>G (p.Ser69Gly)
n.616A>G
c.27A>G (p.Pro9=)
n.884A>G
n.390A>G
21g.32609889T>GCA410075881CFAP298,CFAP298-TCP10Lc.256A>C (p.Ser86Arg)
c.159A>C
c.205A>C (p.Ser69Arg)
n.616A>C
c.27A>C (p.Pro9=)
n.884A>C
n.390A>C
21g.32609890G>ACA512144124CFAP298,CFAP298-TCP10Lc.255C>T (p.Pro85=)
c.158C>T
c.204C>T (p.Pro68=)
n.615C>T
c.26C>T (p.Pro9Leu)
n.883C>T
n.389C>T
21g.32609890G>CCA512144123CFAP298,CFAP298-TCP10Lc.255C>G (p.Pro85=)
c.158C>G
c.204C>G (p.Pro68=)
n.615C>G
c.26C>G (p.Pro9Arg)
n.883C>G
n.389C>G
21g.32609890G>TCA512144125CFAP298,CFAP298-TCP10Lc.255C>A (p.Pro85=)
c.158C>A
c.204C>A (p.Pro68=)
n.615C>A
c.26C>A (p.Pro9Gln)
n.883C>A
n.389C>A
21g.32609891G>ACA10002935CFAP298,CFAP298-TCP10Lc.254C>T (p.Pro85Leu)
c.157C>T
c.203C>T (p.Pro68Leu)
n.614C>T
c.25C>T (p.Pro9Ser)
n.882C>T
n.388C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609891G>CCA410075885CFAP298,CFAP298-TCP10Lc.254C>G (p.Pro85Arg)
c.157C>G
c.203C>G (p.Pro68Arg)
n.614C>G
c.25C>G (p.Pro9Ala)
n.882C>G
n.388C>G
dbSNP
21g.32609891G=CA2386304786CFAP298,CFAP298-TCP10Lc.254C= (p.Pro85=)
c.157C=
c.203C= (p.Pro68=)
n.614C=
c.25C= (p.Pro9=)
n.882C=
n.388C=
21g.32609891G>TCA410075883CFAP298,CFAP298-TCP10Lc.254C>A (p.Pro85His)
c.157C>A
c.203C>A (p.Pro68His)
n.614C>A
c.25C>A (p.Pro9Thr)
n.882C>A
n.388C>A
21g.32609892G>ACA410075887CFAP298,CFAP298-TCP10Lc.253C>T (p.Pro85Ser)
c.156C>T
c.202C>T (p.Pro68Ser)
n.613C>T
c.24C>T (p.Tyr8=)
n.881C>T
n.387C>T
dbSNP
21g.32609892G>CCA410075889CFAP298,CFAP298-TCP10Lc.253C>G (p.Pro85Ala)
c.156C>G
c.202C>G (p.Pro68Ala)
n.613C>G
c.24C>G (p.Tyr8Ter)
n.881C>G
n.387C>G
dbSNP gnomAD v3 gnomAD v4
21g.32609892G=CA2386304787CFAP298,CFAP298-TCP10Lc.253C= (p.Pro85=)
c.156C=
c.202C= (p.Pro68=)
n.613C=
c.24C= (p.Tyr8=)
n.881C=
n.387C=
21g.32609892G>TCA410075890CFAP298,CFAP298-TCP10Lc.253C>A (p.Pro85Thr)
c.156C>A
c.202C>A (p.Pro68Thr)
n.613C>A
c.24C>A (p.Tyr8Ter)
n.881C>A
n.387C>A
21g.32609893T>ACA512144129CFAP298,CFAP298-TCP10Lc.252A>T (p.Val84=)
c.155A>T
c.201A>T (p.Val67=)
n.612A>T
c.23A>T (p.Tyr8Phe)
n.880A>T
n.386A>T
21g.32609893T>CCA512144127CFAP298,CFAP298-TCP10Lc.252A>G (p.Val84=)
c.155A>G
c.201A>G (p.Val67=)
n.612A>G
c.23A>G (p.Tyr8Cys)
n.880A>G
n.386A>G
21g.32609893T>GCA512144126CFAP298,CFAP298-TCP10Lc.252A>C (p.Val84=)
c.155A>C
c.201A>C (p.Val67=)
n.612A>C
c.23A>C (p.Tyr8Ser)
n.880A>C
n.386A>C
21g.32609894A>CCA410075896CFAP298,CFAP298-TCP10Lc.251T>G (p.Val84Gly)
c.154T>G
c.200T>G (p.Val67Gly)
n.611T>G
c.22T>G (p.Tyr8Asp)
n.879T>G
n.385T>G
21g.32609894A>GCA410075898CFAP298,CFAP298-TCP10Lc.251T>C (p.Val84Ala)
c.154T>C
c.200T>C (p.Val67Ala)
n.611T>C
c.22T>C (p.Tyr8His)
n.879T>C
n.385T>C
21g.32609894A>TCA410075902CFAP298,CFAP298-TCP10Lc.251T>A (p.Val84Glu)
c.154T>A
c.200T>A (p.Val67Glu)
n.611T>A
c.22T>A (p.Tyr8Asn)
n.879T>A
n.385T>A
21g.32609895C>ACA410075908CFAP298,CFAP298-TCP10Lc.250G>T (p.Val84Leu)
c.153G>T
c.199G>T (p.Val67Leu)
n.610G>T
c.21G>T (p.Ala7=)
n.878G>T
n.384G>T
gnomAD v4
21g.32609895C=CA2386304788CFAP298,CFAP298-TCP10Lc.250G= (p.Val84=)
c.153G=
c.199G= (p.Val67=)
n.610G=
c.21G= (p.Ala7=)
n.878G=
n.384G=
21g.32609895C>GCA410075904CFAP298,CFAP298-TCP10Lc.250G>C (p.Val84Leu)
c.153G>C
c.199G>C (p.Val67Leu)
n.610G>C
c.21G>C (p.Ala7=)
n.878G>C
n.384G>C
21g.32609895C>TCA10583881CFAP298,CFAP298-TCP10Lc.250G>A (p.Val84Ile)
c.153G>A
c.199G>A (p.Val67Ile)
n.610G>A
c.21G>A (p.Ala7=)
n.878G>A
n.384G>A
ClinVar dbSNP gnomAD v4 COSMIC
21g.32609896G>ACA319431613CFAP298,CFAP298-TCP10Lc.249C>T (p.Cys83=)
c.152C>T
c.198C>T (p.Cys66=)
n.609C>T
c.20C>T (p.Ala7Val)
n.877C>T
n.383C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.32609896G>CCA10002936CFAP298,CFAP298-TCP10Lc.249C>G (p.Cys83Trp)
c.152C>G
c.198C>G (p.Cys66Trp)
n.609C>G
c.20C>G (p.Ala7Gly)
n.877C>G
n.383C>G
dbSNP ExAC gnomAD v2 gnomAD v4
21g.32609896G=CA2386304789CFAP298,CFAP298-TCP10Lc.249C= (p.Cys83=)
c.152C=
c.198C= (p.Cys66=)
n.609C=
c.20C= (p.Ala7=)
n.877C=
n.383C=
21g.32609896G>TCA410075910CFAP298,CFAP298-TCP10Lc.249C>A (p.Cys83Ter)
c.152C>A
c.198C>A (p.Cys66Ter)
n.609C>A
c.20C>A (p.Ala7Glu)
n.877C>A
n.383C>A
21g.32609897C>ACA410075912CFAP298,CFAP298-TCP10Lc.248G>T (p.Cys83Phe)
c.151G>T
c.197G>T (p.Cys66Phe)
n.608G>T
c.19G>T (p.Ala7Ser)
n.876G>T
n.382G>T
21g.32609897C=CA2386304790CFAP298,CFAP298-TCP10Lc.248G= (p.Cys83=)
c.151G=
c.197G= (p.Cys66=)
n.608G=
c.19G= (p.Ala7=)
n.876G=
n.382G=
21g.32609897C>GCA10002937CFAP298,CFAP298-TCP10Lc.248G>C (p.Cys83Ser)
c.151G>C
c.197G>C (p.Cys66Ser)
n.608G>C
c.19G>C (p.Ala7Pro)
n.876G>C
n.382G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609897C>TCA410075914CFAP298,CFAP298-TCP10Lc.248G>A (p.Cys83Tyr)
c.151G>A
c.197G>A (p.Cys66Tyr)
n.608G>A
c.19G>A (p.Ala7Thr)
n.876G>A
n.382G>A
gnomAD v4
21g.32609898A>CCA410075916CFAP298,CFAP298-TCP10Lc.247T>G (p.Cys83Gly)
c.150T>G
c.196T>G (p.Cys66Gly)
n.607T>G
c.18T>G (p.Asn6Lys)
n.875T>G
n.381T>G
21g.32609898A>GCA410075919CFAP298,CFAP298-TCP10Lc.247T>C (p.Cys83Arg)
c.150T>C
c.196T>C (p.Cys66Arg)
n.607T>C
c.18T>C (p.Asn6=)
n.875T>C
n.381T>C
21g.32609898A>TCA410075918CFAP298,CFAP298-TCP10Lc.247T>A (p.Cys83Ser)
c.150T>A
c.196T>A (p.Cys66Ser)
n.607T>A
c.18T>A (p.Asn6Lys)
n.875T>A
n.381T>A
21g.32609899T>ACA410075921CFAP298,CFAP298-TCP10Lc.246A>T (p.Lys82Asn)
c.149A>T
c.195A>T (p.Lys65Asn)
n.606A>T
c.17A>T (p.Asn6Ile)
n.874A>T
n.380A>T
21g.32609899T>CCA512144131CFAP298,CFAP298-TCP10Lc.246A>G (p.Lys82=)
c.149A>G
c.195A>G (p.Lys65=)
n.606A>G
c.17A>G (p.Asn6Ser)
n.874A>G
n.380A>G
21g.32609899T>GCA410075922CFAP298,CFAP298-TCP10Lc.246A>C (p.Lys82Asn)
c.149A>C
c.195A>C (p.Lys65Asn)
n.606A>C
c.17A>C (p.Asn6Thr)
n.874A>C
n.380A>C
21g.32609903delCA2577475967CFAP298,CFAP298-TCP10Lc.246del (p.Lys82AsnfsTer27)
c.246del (p.Lys82AsnfsTer?)
c.149del
c.195del (p.Lys65AsnfsTer27)
n.606del
c.17del (p.Asn6MetfsTer10)
n.874del
n.380del
gnomAD v4
21g.32609900T>ACA10002938CFAP298,CFAP298-TCP10Lc.245A>T (p.Lys82Ile)
c.148A>T
c.194A>T (p.Lys65Ile)
n.605A>T
c.16A>T (p.Asn6Tyr)
n.873A>T
n.379A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609900T>CCA410075927CFAP298,CFAP298-TCP10Lc.245A>G (p.Lys82Arg)
c.148A>G
c.194A>G (p.Lys65Arg)
n.605A>G
c.16A>G (p.Asn6Asp)
n.873A>G
n.379A>G
21g.32609900T>GCA410075930CFAP298,CFAP298-TCP10Lc.245A>C (p.Lys82Thr)
c.148A>C
c.194A>C (p.Lys65Thr)
n.605A>C
c.16A>C (p.Asn6His)
n.873A>C
n.379A>C
21g.32609900T=CA2386304791CFAP298,CFAP298-TCP10Lc.245A= (p.Lys82=)
c.148A=
c.194A= (p.Lys65=)
n.605A=
c.16A= (p.Asn6=)
n.873A=
n.379A=
21g.32609901T>ACA410075931CFAP298,CFAP298-TCP10Lc.244A>T (p.Lys82Ter)
c.147A>T
c.193A>T (p.Lys65Ter)
n.604A>T
c.15A>T (p.Lys5Asn)
n.872A>T
n.378A>T
21g.32609901T>CCA410075935CFAP298,CFAP298-TCP10Lc.244A>G (p.Lys82Glu)
c.147A>G
c.193A>G (p.Lys65Glu)
n.604A>G
c.15A>G (p.Lys5=)
n.872A>G
n.378A>G
21g.32609901T>GCA410075936CFAP298,CFAP298-TCP10Lc.244A>C (p.Lys82Gln)
c.147A>C
c.193A>C (p.Lys65Gln)
n.604A>C
c.15A>C (p.Lys5Asn)
n.872A>C
n.378A>C
21g.32609902T>ACA410075938CFAP298,CFAP298-TCP10Lc.243A>T (p.Glu81Asp)
c.146A>T
c.192A>T (p.Glu64Asp)
n.603A>T
c.14A>T (p.Lys5Ile)
n.871A>T
n.377A>T
21g.32609902T>CCA512144132CFAP298,CFAP298-TCP10Lc.243A>G (p.Glu81=)
c.146A>G
c.192A>G (p.Glu64=)
n.603A>G
c.14A>G (p.Lys5Arg)
n.871A>G
n.377A>G
21g.32609902T>GCA410075939CFAP298,CFAP298-TCP10Lc.243A>C (p.Glu81Asp)
c.146A>C
c.192A>C (p.Glu64Asp)
n.603A>C
c.14A>C (p.Lys5Thr)
n.871A>C
n.377A>C
21g.32609903T>ACA410075941CFAP298,CFAP298-TCP10Lc.242A>T (p.Glu81Val)
c.145A>T
c.191A>T (p.Glu64Val)
n.602A>T
c.13A>T (p.Lys5Ter)
n.870A>T
n.376A>T
21g.32609903T>CCA410075945CFAP298,CFAP298-TCP10Lc.242A>G (p.Glu81Gly)
c.145A>G
c.191A>G (p.Glu64Gly)
n.602A>G
c.13A>G (p.Lys5Glu)
n.870A>G
n.376A>G
dbSNP
21g.32609903T>GCA410075943CFAP298,CFAP298-TCP10Lc.242A>C (p.Glu81Ala)
c.145A>C
c.191A>C (p.Glu64Ala)
n.602A>C
c.13A>C (p.Lys5Gln)
n.870A>C
n.376A>C
21g.32609903T=CA2386304792CFAP298,CFAP298-TCP10Lc.242A= (p.Glu81=)
c.145A=
c.191A= (p.Glu64=)
n.602A=
c.13A= (p.Lys5=)
n.870A=
n.376A=
21g.32609904C>ACA410075946CFAP298,CFAP298-TCP10Lc.241G>T (p.Glu81Ter)
c.144G>T
c.190G>T (p.Glu64Ter)
n.601G>T
c.12G>T (p.Val4=)
n.869G>T
n.375G>T
21g.32609904C>GCA410075952CFAP298,CFAP298-TCP10Lc.241G>C (p.Glu81Gln)
c.144G>C
c.190G>C (p.Glu64Gln)
n.601G>C
c.12G>C (p.Val4=)
n.869G>C
n.375G>C
21g.32609904C>TCA410075950CFAP298,CFAP298-TCP10Lc.241G>A (p.Glu81Lys)
c.144G>A
c.190G>A (p.Glu64Lys)
n.601G>A
c.12G>A (p.Val4=)
n.869G>A
n.375G>A
21g.32609905A=CA2386304793CFAP298,CFAP298-TCP10Lc.240T= (p.Gly80=)
c.143T=
c.189T= (p.Gly63=)
n.600T=
c.11T= (p.Val4=)
n.868T=
n.374T=
21g.32609905A>CCA512144135CFAP298,CFAP298-TCP10Lc.240T>G (p.Gly80=)
c.143T>G
c.189T>G (p.Gly63=)
n.600T>G
c.11T>G (p.Val4Gly)
n.868T>G
n.374T>G
21g.32609905A>GCA512144133CFAP298,CFAP298-TCP10Lc.240T>C (p.Gly80=)
c.143T>C
c.189T>C (p.Gly63=)
n.600T>C
c.11T>C (p.Val4Ala)
n.868T>C
n.374T>C
21g.32609905A>TCA512144134CFAP298,CFAP298-TCP10Lc.240T>A (p.Gly80=)
c.143T>A
c.189T>A (p.Gly63=)
n.600T>A
c.11T>A (p.Val4Glu)
n.868T>A
n.374T>A
dbSNP gnomAD v2 gnomAD v4
21g.32609906C>ACA410075954CFAP298,CFAP298-TCP10Lc.239G>T (p.Gly80Val)
c.142G>T
c.188G>T (p.Gly63Val)
n.599G>T
c.10G>T (p.Val4Leu)
n.867G>T
n.373G>T
dbSNP gnomAD v4
21g.32609906C=CA2386304794CFAP298,CFAP298-TCP10Lc.239G= (p.Gly80=)
c.142G=
c.188G= (p.Gly63=)
n.599G=
c.10G= (p.Val4=)
n.867G=
n.373G=
21g.32609906C>GCA410075956CFAP298,CFAP298-TCP10Lc.239G>C (p.Gly80Ala)
c.142G>C
c.188G>C (p.Gly63Ala)
n.599G>C
c.10G>C (p.Val4Leu)
n.867G>C
n.373G>C
21g.32609906C>TCA10002939CFAP298,CFAP298-TCP10Lc.239G>A (p.Gly80Asp)
c.142G>A
c.188G>A (p.Gly63Asp)
n.599G>A
c.10G>A (p.Val4Met)
n.867G>A
n.373G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609907C>ACA410075958CFAP298,CFAP298-TCP10Lc.238G>T (p.Gly80Cys)
c.141G>T
c.187G>T (p.Gly63Cys)
n.598G>T
c.9G>T (p.Gly3=)
n.866G>T
n.372G>T
21g.32609907C=CA2386304795CFAP298,CFAP298-TCP10Lc.238G= (p.Gly80=)
c.141G=
c.187G= (p.Gly63=)
n.598G=
c.9G= (p.Gly3=)
n.866G=
n.372G=
21g.32609907C>GCA410075961CFAP298,CFAP298-TCP10Lc.238G>C (p.Gly80Arg)
c.141G>C
c.187G>C (p.Gly63Arg)
n.598G>C
c.9G>C (p.Gly3=)
n.866G>C
n.372G>C
21g.32609907C>TCA10002940CFAP298,CFAP298-TCP10Lc.238G>A (p.Gly80Ser)
c.141G>A
c.187G>A (p.Gly63Ser)
n.598G>A
c.9G>A (p.Gly3=)
n.866G>A
n.372G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609908C>ACA410075963CFAP298,CFAP298-TCP10Lc.237G>T (p.Trp79Cys)
c.140G>T
c.186G>T (p.Trp62Cys)
n.597G>T
c.8G>T (p.Gly3Val)
n.865G>T
n.371G>T
dbSNP
21g.32609908C=CA2386304796CFAP298,CFAP298-TCP10Lc.237G= (p.Trp79=)
c.140G=
c.186G= (p.Trp62=)
n.597G=
c.8G= (p.Gly3=)
n.865G=
n.371G=
21g.32609908C>GCA410075965CFAP298,CFAP298-TCP10Lc.237G>C (p.Trp79Cys)
c.140G>C
c.186G>C (p.Trp62Cys)
n.597G>C
c.8G>C (p.Gly3Ala)
n.865G>C
n.371G>C
21g.32609908C>TCA410075966CFAP298,CFAP298-TCP10Lc.237G>A (p.Trp79Ter)
c.140G>A
c.186G>A (p.Trp62Ter)
n.597G>A
c.8G>A (p.Gly3Glu)
n.865G>A
n.371G>A
gnomAD v4
21g.32609909C>ACA410075968CFAP298,CFAP298-TCP10Lc.236G>T (p.Trp79Leu)
c.139G>T
c.185G>T (p.Trp62Leu)
n.596G>T
c.7G>T (p.Gly3Trp)
n.864G>T
n.370G>T
21g.32609909C=CA2386304797CFAP298,CFAP298-TCP10Lc.236G= (p.Trp79=)
c.139G=
c.185G= (p.Trp62=)
n.596G=
c.7G= (p.Gly3=)
n.864G=
n.370G=
21g.32609909C>GCA410075969CFAP298,CFAP298-TCP10Lc.236G>C (p.Trp79Ser)
c.139G>C
c.185G>C (p.Trp62Ser)
n.596G>C
c.7G>C (p.Gly3Arg)
n.864G>C
n.370G>C
21g.32609909C>TCA410075970CFAP298,CFAP298-TCP10Lc.236G>A (p.Trp79Ter)
c.139G>A
c.185G>A (p.Trp62Ter)
n.596G>A
c.7G>A (p.Gly3Arg)
n.864G>A
n.370G>A
dbSNP gnomAD v4
21g.32609910A>CCA410075972CFAP298,CFAP298-TCP10Lc.235T>G (p.Trp79Gly)
c.138T>G
c.184T>G (p.Trp62Gly)
n.595T>G
c.6T>G (p.Asn2Lys)
n.863T>G
n.369T>G
21g.32609910A>GCA410075973CFAP298,CFAP298-TCP10Lc.235T>C (p.Trp79Arg)
c.138T>C
c.184T>C (p.Trp62Arg)
n.595T>C
c.6T>C (p.Asn2=)
n.863T>C
n.369T>C
21g.32609910A>TCA410075974CFAP298,CFAP298-TCP10Lc.235T>A (p.Trp79Arg)
c.138T>A
c.184T>A (p.Trp62Arg)
n.595T>A
c.6T>A (p.Asn2Lys)
n.863T>A
n.369T>A
21g.32609911T>ACA410075975CFAP298,CFAP298-TCP10Lc.234A>T (p.Glu78Asp)
c.137A>T
c.183A>T (p.Glu61Asp)
n.594A>T
c.5A>T (p.Asn2Ile)
n.862A>T
n.368A>T
21g.32609911T>CCA512144137CFAP298,CFAP298-TCP10Lc.234A>G (p.Glu78=)
c.137A>G
c.183A>G (p.Glu61=)
n.594A>G
c.5A>G (p.Asn2Ser)
n.862A>G
n.368A>G
21g.32609911T>GCA410075976CFAP298,CFAP298-TCP10Lc.234A>C (p.Glu78Asp)
c.137A>C
c.183A>C (p.Glu61Asp)
n.594A>C
c.5A>C (p.Asn2Thr)
n.862A>C
n.368A>C
gnomAD v4
21g.32609912T>ACA410075982CFAP298,CFAP298-TCP10Lc.233A>T (p.Glu78Val)
c.136A>T
c.182A>T (p.Glu61Val)
n.593A>T
c.4A>T (p.Asn2Tyr)
n.861A>T
n.367A>T
21g.32609912T>CCA410075978CFAP298,CFAP298-TCP10Lc.233A>G (p.Glu78Gly)
c.136A>G
c.182A>G (p.Glu61Gly)
n.593A>G
c.4A>G (p.Asn2Asp)
n.861A>G
n.367A>G
21g.32609912T>GCA410075980CFAP298,CFAP298-TCP10Lc.233A>C (p.Glu78Ala)
c.136A>C
c.182A>C (p.Glu61Ala)
n.593A>C
c.4A>C (p.Asn2His)
n.861A>C
n.367A>C
21g.32609913C>ACA410075983CFAP298,CFAP298-TCP10Lc.232G>T (p.Glu78Ter)
c.135G>T
c.181G>T (p.Glu61Ter)
n.592G>T
c.3G>T (p.Met1Ile)
n.860G>T
n.366G>T
21g.32609913C>GCA410075984CFAP298,CFAP298-TCP10Lc.232G>C (p.Glu78Gln)
c.135G>C
c.181G>C (p.Glu61Gln)
n.592G>C
c.3G>C (p.Met1Ile)
n.860G>C
n.366G>C
21g.32609913C>TCA410075987CFAP298,CFAP298-TCP10Lc.232G>A (p.Glu78Lys)
c.135G>A
c.181G>A (p.Glu61Lys)
n.592G>A
c.3G>A (p.Met1Ile)
n.860G>A
n.366G>A
21g.32609914A>CCA410075988CFAP298,CFAP298-TCP10Lc.231T>G (p.Asp77Glu)
c.134T>G
c.180T>G (p.Asp60Glu)
n.591T>G
c.2T>G (p.Met1Arg)
n.859T>G
n.365T>G
21g.32609914A>GCA512144138CFAP298,CFAP298-TCP10Lc.231T>C (p.Asp77=)
c.134T>C
c.180T>C (p.Asp60=)
n.591T>C
c.2T>C (p.Met1Thr)
n.859T>C
n.365T>C
21g.32609914A>TCA410075990CFAP298,CFAP298-TCP10Lc.231T>A (p.Asp77Glu)
c.134T>A
c.180T>A (p.Asp60Glu)
n.591T>A
c.2T>A (p.Met1Lys)
n.859T>A
n.365T>A
21g.32609915T>ACA410075992CFAP298,CFAP298-TCP10Lc.230A>T (p.Asp77Val)
c.133A>T
c.179A>T (p.Asp60Val)
n.590A>T
c.1A>T (p.Met1Leu)
n.858A>T
n.364A>T
21g.32609915T>CCA410075993CFAP298,CFAP298-TCP10Lc.230A>G (p.Asp77Gly)
c.133A>G
c.179A>G (p.Asp60Gly)
n.590A>G
c.1A>G (p.Met1Val)
n.858A>G
n.364A>G
21g.32609915T>GCA410075995CFAP298,CFAP298-TCP10Lc.230A>C (p.Asp77Ala)
c.133A>C
c.179A>C (p.Asp60Ala)
n.590A>C
c.1A>C (p.Met1Leu)
n.858A>C
n.364A>C
21g.32609916C>ACA410075996CFAP298,CFAP298-TCP10Lc.229G>T (p.Asp77Tyr)
c.132G>T
c.178G>T (p.Asp60Tyr)
n.589G>T
c.-1G>T (n.-1G>T)
n.857G>T
n.363G>T
21g.32609916C>GCA410075998CFAP298,CFAP298-TCP10Lc.229G>C (p.Asp77His)
c.132G>C
c.178G>C (p.Asp60His)
n.589G>C
c.-1G>C (n.-1G>C)
n.857G>C
n.363G>C
21g.32609916C>TCA410076000CFAP298,CFAP298-TCP10Lc.229G>A (p.Asp77Asn)
c.132G>A
c.178G>A (p.Asp60Asn)
n.589G>A
c.-1G>A (n.-1G>A)
n.857G>A
n.363G>A
21g.32609917C>ACA410076001CFAP298,CFAP298-TCP10Lc.228G>T (p.Lys76Asn)
c.131G>T
c.177G>T (p.Lys59Asn)
n.588G>T
c.-2G>T (n.-2G>T)
n.856G>T
n.362G>T
21g.32609917C>GCA410076003CFAP298,CFAP298-TCP10Lc.228G>C (p.Lys76Asn)
c.131G>C
c.177G>C (p.Lys59Asn)
n.588G>C
c.-2G>C (n.-2G>C)
n.856G>C
n.362G>C
21g.32609917C>TCA512144139CFAP298,CFAP298-TCP10Lc.228G>A (p.Lys76=)
c.131G>A
c.177G>A (p.Lys59=)
n.588G>A
c.-2G>A (n.-2G>A)
n.856G>A
n.362G>A
21g.32609918T>ACA410076005CFAP298,CFAP298-TCP10Lc.227A>T (p.Lys76Met)
c.130A>T
c.176A>T (p.Lys59Met)
n.587A>T
c.-3A>T (n.-3A>T)
n.855A>T
n.361A>T
21g.32609918T>CCA10002941CFAP298,CFAP298-TCP10Lc.227A>G (p.Lys76Arg)
c.130A>G
c.176A>G (p.Lys59Arg)
n.587A>G
c.-3A>G (n.-3A>G)
n.855A>G
n.361A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609918T>GCA410076007CFAP298,CFAP298-TCP10Lc.227A>C (p.Lys76Thr)
c.130A>C
c.176A>C (p.Lys59Thr)
n.587A>C
c.-3A>C (n.-3A>C)
n.855A>C
n.361A>C
21g.32609918T=CA2386304798CFAP298,CFAP298-TCP10Lc.227A= (p.Lys76=)
c.130A=
c.176A= (p.Lys59=)
n.587A=
c.-3A= (n.-3A=)
n.855A=
n.361A=
21g.32609919T>ACA410076009CFAP298,CFAP298-TCP10Lc.226A>T (p.Lys76Ter)
c.129A>T
c.175A>T (p.Lys59Ter)
n.586A>T
c.-4A>T (n.-4A>T)
n.854A>T
n.360A>T
21g.32609919T>CCA410076011CFAP298,CFAP298-TCP10Lc.226A>G (p.Lys76Glu)
c.129A>G
c.175A>G (p.Lys59Glu)
n.586A>G
c.-4A>G (n.-4A>G)
n.854A>G
n.360A>G
gnomAD v4
21g.32609919T>GCA410076013CFAP298,CFAP298-TCP10Lc.226A>C (p.Lys76Gln)
c.129A>C
c.175A>C (p.Lys59Gln)
n.586A>C
c.-4A>C (n.-4A>C)
n.854A>C
n.360A>C
gnomAD v4
21g.32609920C>ACA410076017CFAP298,CFAP298-TCP10Lc.225G>T (p.Leu75Phe)
c.128G>T
c.174G>T (p.Leu58Phe)
n.585G>T
c.-5G>T (n.-5G>T)
n.853G>T
n.359G>T
21g.32609920C>GCA410076019CFAP298,CFAP298-TCP10Lc.225G>C (p.Leu75Phe)
c.128G>C
c.174G>C (p.Leu58Phe)
n.585G>C
c.-5G>C (n.-5G>C)
n.853G>C
n.359G>C
21g.32609920C>TCA512144140CFAP298,CFAP298-TCP10Lc.225G>A (p.Leu75=)
c.128G>A
c.174G>A (p.Leu58=)
n.585G>A
c.-5G>A (n.-5G>A)
n.853G>A
n.359G>A
21g.32609921A>CCA410076022CFAP298,CFAP298-TCP10Lc.224T>G (p.Leu75Trp)
c.127T>G
c.173T>G (p.Leu58Trp)
n.584T>G
c.-6T>G (n.-6T>G)
n.852T>G
n.358T>G
21g.32609921A>GCA410076024CFAP298,CFAP298-TCP10Lc.224T>C (p.Leu75Ser)
c.127T>C
c.173T>C (p.Leu58Ser)
n.584T>C
c.-6T>C (n.-6T>C)
n.852T>C
n.358T>C
COSMIC
21g.32609921A>TCA410076025CFAP298,CFAP298-TCP10Lc.224T>A (p.Leu75Ter)
c.127T>A
c.173T>A (p.Leu58Ter)
n.584T>A
c.-6T>A (n.-6T>A)
n.852T>A
n.358T>A
gnomAD v4
21g.32609922A=CA2386304799CFAP298,CFAP298-TCP10Lc.223T= (p.Leu75=)
c.126T=
c.172T= (p.Leu58=)
n.583T=
c.-7T= (n.-7T=)
n.851T=
n.357T=
21g.32609922A>CCA410076027CFAP298,CFAP298-TCP10Lc.223T>G (p.Leu75Val)
c.126T>G
c.172T>G (p.Leu58Val)
n.583T>G
c.-7T>G (n.-7T>G)
n.851T>G
n.357T>G
21g.32609922A>GCA319431695CFAP298,CFAP298-TCP10Lc.223T>C (p.Leu75=)
c.126T>C
c.172T>C (p.Leu58=)
n.583T>C
c.-7T>C (n.-7T>C)
n.851T>C
n.357T>C
dbSNP gnomAD v3 gnomAD v4
21g.32609922A>TCA410076028CFAP298,CFAP298-TCP10Lc.223T>A (p.Leu75Met)
c.126T>A
c.172T>A (p.Leu58Met)
n.583T>A
c.-7T>A (n.-7T>A)
n.851T>A
n.357T>A
21g.32609923T>ACA410076030CFAP298,CFAP298-TCP10Lc.222A>T (p.Lys74Asn)
c.125A>T
c.171A>T (p.Lys57Asn)
n.582A>T
c.-8A>T (n.-8A>T)
n.850A>T
n.356A>T
21g.32609923T>CCA512144141CFAP298,CFAP298-TCP10Lc.222A>G (p.Lys74=)
c.125A>G
c.171A>G (p.Lys57=)
n.582A>G
c.-8A>G (n.-8A>G)
n.850A>G
n.356A>G
21g.32609923T>GCA410076031CFAP298,CFAP298-TCP10Lc.222A>C (p.Lys74Asn)
c.125A>C
c.171A>C (p.Lys57Asn)
n.582A>C
c.-8A>C (n.-8A>C)
n.850A>C
n.356A>C
21g.32609924T>ACA410076032CFAP298,CFAP298-TCP10Lc.221A>T (p.Lys74Ile)
c.124A>T
c.170A>T (p.Lys57Ile)
n.581A>T
c.-9A>T (n.-9A>T)
n.849A>T
n.355A>T
21g.32609924T>CCA410076033CFAP298,CFAP298-TCP10Lc.221A>G (p.Lys74Arg)
c.124A>G
c.170A>G (p.Lys57Arg)
n.581A>G
c.-9A>G (n.-9A>G)
n.849A>G
n.355A>G
dbSNP
21g.32609924T>GCA410076034CFAP298,CFAP298-TCP10Lc.221A>C (p.Lys74Thr)
c.124A>C
c.170A>C (p.Lys57Thr)
n.581A>C
c.-9A>C (n.-9A>C)
n.849A>C
n.355A>C
21g.32609924T=CA2386304800CFAP298,CFAP298-TCP10Lc.221A= (p.Lys74=)
c.124A=
c.170A= (p.Lys57=)
n.581A=
c.-9A= (n.-9A=)
n.849A=
n.355A=
21g.32609925T>ACA410076036CFAP298,CFAP298-TCP10Lc.220A>T (p.Lys74Ter)
c.123A>T
c.169A>T (p.Lys57Ter)
n.580A>T
c.-10A>T (n.-10A>T)
n.848A>T
n.354A>T
21g.32609925T>CCA410076041CFAP298,CFAP298-TCP10Lc.220A>G (p.Lys74Glu)
c.123A>G
c.169A>G (p.Lys57Glu)
n.580A>G
c.-10A>G (n.-10A>G)
n.848A>G
n.354A>G
21g.32609925T>GCA410076042CFAP298,CFAP298-TCP10Lc.220A>C (p.Lys74Gln)
c.123A>C
c.169A>C (p.Lys57Gln)
n.580A>C
c.-10A>C (n.-10A>C)
n.848A>C
n.354A>C
21g.32609926C>ACA410076048CFAP298,CFAP298-TCP10Lc.219G>T (p.Leu73Phe)
c.122G>T
c.168G>T (p.Leu56Phe)
n.579G>T
c.-11G>T (n.-11G>T)
n.847G>T
n.353G>T
gnomAD v4
21g.32609926C>GCA410076050CFAP298,CFAP298-TCP10Lc.219G>C (p.Leu73Phe)
c.122G>C
c.168G>C (p.Leu56Phe)
n.579G>C
c.-11G>C (n.-11G>C)
n.847G>C
n.353G>C
21g.32609926C>TCA512144142CFAP298,CFAP298-TCP10Lc.219G>A (p.Leu73=)
c.122G>A
c.168G>A (p.Leu56=)
n.579G>A
c.-11G>A (n.-11G>A)
n.847G>A
n.353G>A
21g.32609927A>CCA410076051CFAP298,CFAP298-TCP10Lc.218T>G (p.Leu73Trp)
c.121T>G
c.167T>G (p.Leu56Trp)
n.578T>G
c.-12T>G (n.-12T>G)
n.846T>G
n.352T>G
21g.32609927A>GCA410076054CFAP298,CFAP298-TCP10Lc.218T>C (p.Leu73Ser)
c.121T>C
c.167T>C (p.Leu56Ser)
n.578T>C
c.-12T>C (n.-12T>C)
n.846T>C
n.352T>C
21g.32609927A>TCA410076056CFAP298,CFAP298-TCP10Lc.218T>A (p.Leu73Ter)
c.121T>A
c.167T>A (p.Leu56Ter)
n.578T>A
c.-12T>A (n.-12T>A)
n.846T>A
n.352T>A
21g.32609928A=CA2386304801CFAP298,CFAP298-TCP10Lc.217T= (p.Leu73=)
c.120T=
c.166T= (p.Leu56=)
n.577T=
c.-13T= (n.-13T=)
n.845T=
n.351T=
21g.32609928A>CCA410076058CFAP298,CFAP298-TCP10Lc.217T>G (p.Leu73Val)
c.120T>G
c.166T>G (p.Leu56Val)
n.577T>G
c.-13T>G (n.-13T>G)
n.845T>G
n.351T>G
21g.32609928A>GCA10002942CFAP298,CFAP298-TCP10Lc.217T>C (p.Leu73=)
c.120T>C
c.166T>C (p.Leu56=)
n.577T>C
c.-13T>C (n.-13T>C)
n.845T>C
n.351T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609928A>TCA410076057CFAP298,CFAP298-TCP10Lc.217T>A (p.Leu73Met)
c.120T>A
c.166T>A (p.Leu56Met)
n.577T>A
c.-13T>A (n.-13T>A)
n.845T>A
n.351T>A
21g.32609929T>ACA410076061CFAP298,CFAP298-TCP10Lc.216A>T (p.Glu72Asp)
c.119A>T
c.165A>T (p.Glu55Asp)
n.576A>T
c.-14A>T (n.-14A>T)
n.844A>T
n.350A>T
21g.32609929T>CCA512144143CFAP298,CFAP298-TCP10Lc.216A>G (p.Glu72=)
c.119A>G
c.165A>G (p.Glu55=)
n.576A>G
c.-14A>G (n.-14A>G)
n.844A>G
n.350A>G
gnomAD v4
21g.32609929T>GCA410076060CFAP298,CFAP298-TCP10Lc.216A>C (p.Glu72Asp)
c.119A>C
c.165A>C (p.Glu55Asp)
n.576A>C
c.-14A>C (n.-14A>C)
n.844A>C
n.350A>C
21g.32609930T>ACA410076062CFAP298,CFAP298-TCP10Lc.215A>T (p.Glu72Val)
c.118A>T
c.164A>T (p.Glu55Val)
n.575A>T
c.-15A>T (n.-15A>T)
n.843A>T
n.349A>T
21g.32609930T>CCA410076063CFAP298,CFAP298-TCP10Lc.215A>G (p.Glu72Gly)
c.118A>G
c.164A>G (p.Glu55Gly)
n.575A>G
c.-15A>G (n.-15A>G)
n.843A>G
n.349A>G
21g.32609930T>GCA410076065CFAP298,CFAP298-TCP10Lc.215A>C (p.Glu72Ala)
c.118A>C
c.164A>C (p.Glu55Ala)
n.575A>C
c.-15A>C (n.-15A>C)
n.843A>C
n.349A>C
21g.32609931C>ACA410076067CFAP298,CFAP298-TCP10Lc.214G>T (p.Glu72Ter)
c.117G>T
c.163G>T (p.Glu55Ter)
n.574G>T
c.-16G>T (n.-16G>T)
n.842G>T
n.348G>T
gnomAD v4
21g.32609931C=CA2386304802CFAP298,CFAP298-TCP10Lc.214G= (p.Glu72=)
c.117G=
c.163G= (p.Glu55=)
n.574G=
c.-16G= (n.-16G=)
n.842G=
n.348G=
21g.32609931C>GCA410076069CFAP298,CFAP298-TCP10Lc.214G>C (p.Glu72Gln)
c.117G>C
c.163G>C (p.Glu55Gln)
n.574G>C
c.-16G>C (n.-16G>C)
n.842G>C
n.348G>C
21g.32609931C>TCA410076071CFAP298,CFAP298-TCP10Lc.214G>A (p.Glu72Lys)
c.117G>A
c.163G>A (p.Glu55Lys)
n.574G>A
c.-16G>A (n.-16G>A)
n.842G>A
n.348G>A
dbSNP gnomAD v4
21g.32609932T>ACA410076072CFAP298,CFAP298-TCP10Lc.213A>T (p.Glu71Asp)
c.116A>T
c.162A>T (p.Glu54Asp)
n.573A>T
c.-17A>T (n.-17A>T)
n.841A>T
n.347A>T
21g.32609932T>CCA512144144CFAP298,CFAP298-TCP10Lc.213A>G (p.Glu71=)
c.116A>G
c.162A>G (p.Glu54=)
n.573A>G
c.-17A>G (n.-17A>G)
n.841A>G
n.347A>G
21g.32609932T>GCA410076073CFAP298,CFAP298-TCP10Lc.213A>C (p.Glu71Asp)
c.116A>C
c.162A>C (p.Glu54Asp)
n.573A>C
c.-17A>C (n.-17A>C)
n.841A>C
n.347A>C
21g.32609933T>ACA410076075CFAP298,CFAP298-TCP10Lc.212A>T (p.Glu71Val)
c.115A>T
c.161A>T (p.Glu54Val)
n.572A>T
c.-18A>T (n.-18A>T)
n.840A>T
n.346A>T
21g.32609933T>CCA410076076CFAP298,CFAP298-TCP10Lc.212A>G (p.Glu71Gly)
c.115A>G
c.161A>G (p.Glu54Gly)
n.572A>G
c.-18A>G (n.-18A>G)
n.840A>G
n.346A>G
21g.32609933T>GCA410076078CFAP298,CFAP298-TCP10Lc.212A>C (p.Glu71Ala)
c.115A>C
c.161A>C (p.Glu54Ala)
n.572A>C
c.-18A>C (n.-18A>C)
n.840A>C
n.346A>C
21g.32609934C>ACA410076085CFAP298,CFAP298-TCP10Lc.211G>T (p.Glu71Ter)
c.114G>T
c.160G>T (p.Glu54Ter)
n.571G>T
c.-19G>T (n.-19G>T)
n.839G>T
n.345G>T
21g.32609934C>GCA410076083CFAP298,CFAP298-TCP10Lc.211G>C (p.Glu71Gln)
c.114G>C
c.160G>C (p.Glu54Gln)
n.571G>C
c.-19G>C (n.-19G>C)
n.839G>C
n.345G>C
21g.32609934C>TCA410076081CFAP298,CFAP298-TCP10Lc.211G>A (p.Glu71Lys)
c.114G>A
c.160G>A (p.Glu54Lys)
n.571G>A
c.-19G>A (n.-19G>A)
n.839G>A
n.345G>A
21g.32609935A>CCA410076087CFAP298,CFAP298-TCP10Lc.210T>G (p.Ile70Met)
c.113T>G
c.159T>G (p.Ile53Met)
n.570T>G
c.-20T>G (n.-20T>G)
n.838T>G
n.344T>G
21g.32609935A>GCA512144146CFAP298,CFAP298-TCP10Lc.210T>C (p.Ile70=)
c.113T>C
c.159T>C (p.Ile53=)
n.570T>C
c.-20T>C (n.-20T>C)
n.838T>C
n.344T>C
21g.32609935A>TCA512144145CFAP298,CFAP298-TCP10Lc.210T>A (p.Ile70=)
c.113T>A
c.159T>A (p.Ile53=)
n.570T>A
c.-20T>A (n.-20T>A)
n.838T>A
n.344T>A
21g.32609936A>CCA410076089CFAP298,CFAP298-TCP10Lc.209T>G (p.Ile70Ser)
c.112T>G
c.158T>G (p.Ile53Ser)
n.569T>G
c.-21T>G (n.-21T>G)
n.837T>G
n.343T>G
21g.32609936A>GCA410076090CFAP298,CFAP298-TCP10Lc.209T>C (p.Ile70Thr)
c.112T>C
c.158T>C (p.Ile53Thr)
n.569T>C
c.-21T>C (n.-21T>C)
n.837T>C
n.343T>C
21g.32609936A>TCA410076092CFAP298,CFAP298-TCP10Lc.209T>A (p.Ile70Asn)
c.112T>A
c.158T>A (p.Ile53Asn)
n.569T>A
c.-21T>A (n.-21T>A)
n.837T>A
n.343T>A
21g.32609937T>ACA410076094CFAP298,CFAP298-TCP10Lc.208A>T (p.Ile70Phe)
c.111A>T
c.157A>T (p.Ile53Phe)
n.568A>T
c.-22A>T (n.-22A>T)
n.836A>T
n.342A>T
21g.32609937T>CCA410076095CFAP298,CFAP298-TCP10Lc.208A>G (p.Ile70Val)
c.111A>G
c.157A>G (p.Ile53Val)
n.568A>G
c.-22A>G (n.-22A>G)
n.836A>G
n.342A>G
gnomAD v4
21g.32609937T>GCA410076099CFAP298,CFAP298-TCP10Lc.208A>C (p.Ile70Leu)
c.111A>C
c.157A>C (p.Ile53Leu)
n.568A>C
c.-22A>C (n.-22A>C)
n.836A>C
n.342A>C
21g.32609938C>ACA410076100CFAP298,CFAP298-TCP10Lc.207G>T (p.Gln69His)
c.110G>T
c.156G>T (p.Gln52His)
n.567G>T
c.-23G>T (n.-23G>T)
n.835G>T
n.341G>T
gnomAD v4
21g.32609938C>GCA410076102CFAP298,CFAP298-TCP10Lc.207G>C (p.Gln69His)
c.110G>C
c.156G>C (p.Gln52His)
n.567G>C
c.-23G>C (n.-23G>C)
n.835G>C
n.341G>C
gnomAD v4
21g.32609938C>TCA512144147CFAP298,CFAP298-TCP10Lc.207G>A (p.Gln69=)
c.110G>A
c.156G>A (p.Gln52=)
n.567G>A
c.-23G>A (n.-23G>A)
n.835G>A
n.341G>A
gnomAD v4
21g.32609939T>ACA410076104CFAP298,CFAP298-TCP10Lc.206A>T (p.Gln69Leu)
c.109A>T
c.155A>T (p.Gln52Leu)
n.566A>T
c.-24A>T (n.-24A>T)
n.834A>T
n.340A>T
21g.32609939T>CCA410076106CFAP298,CFAP298-TCP10Lc.206A>G (p.Gln69Arg)
c.109A>G
c.155A>G (p.Gln52Arg)
n.566A>G
c.-24A>G (n.-24A>G)
n.834A>G
n.340A>G
21g.32609939T>GCA410076107CFAP298,CFAP298-TCP10Lc.206A>C (p.Gln69Pro)
c.109A>C
c.155A>C (p.Gln52Pro)
n.566A>C
c.-24A>C (n.-24A>C)
n.834A>C
n.340A>C
21g.32609940G>ACA410076112CFAP298,CFAP298-TCP10Lc.205C>T (p.Gln69Ter)
c.108C>T
c.154C>T (p.Gln52Ter)
n.565C>T
c.-25C>T (n.-25C>T)
n.833C>T
n.339C>T
21g.32609940G>CCA410076111CFAP298,CFAP298-TCP10Lc.205C>G (p.Gln69Glu)
c.108C>G
c.154C>G (p.Gln52Glu)
n.565C>G
c.-25C>G (n.-25C>G)
n.833C>G
n.339C>G
gnomAD v4
21g.32609940G>TCA410076109CFAP298,CFAP298-TCP10Lc.205C>A (p.Gln69Lys)
c.108C>A
c.154C>A (p.Gln52Lys)
n.565C>A
c.-25C>A (n.-25C>A)
n.833C>A
n.339C>A
21g.32609941A>CCA410076114CFAP298,CFAP298-TCP10Lc.204T>G (p.Asp68Glu)
c.107T>G
c.153T>G (p.Asp51Glu)
n.564T>G
c.-26T>G (n.-26T>G)
n.832T>G
n.338T>G
21g.32609941A>GCA512144148CFAP298,CFAP298-TCP10Lc.204T>C (p.Asp68=)
c.107T>C
c.153T>C (p.Asp51=)
n.564T>C
c.-26T>C (n.-26T>C)
n.832T>C
n.338T>C
21g.32609941A>TCA410076116CFAP298,CFAP298-TCP10Lc.204T>A (p.Asp68Glu)
c.107T>A
c.153T>A (p.Asp51Glu)
n.564T>A
c.-26T>A (n.-26T>A)
n.832T>A
n.338T>A
21g.32609942T>ACA410076117CFAP298,CFAP298-TCP10Lc.203A>T (p.Asp68Val)
c.106A>T
c.152A>T (p.Asp51Val)
n.563A>T
c.-27A>T (n.-27A>T)
n.831A>T
n.337A>T
21g.32609942T>CCA410076118CFAP298,CFAP298-TCP10Lc.203A>G (p.Asp68Gly)
c.106A>G
c.152A>G (p.Asp51Gly)
n.563A>G
c.-27A>G (n.-27A>G)
n.831A>G
n.337A>G
gnomAD v4
21g.32609942T>GCA410076120CFAP298,CFAP298-TCP10Lc.203A>C (p.Asp68Ala)
c.106A>C
c.152A>C (p.Asp51Ala)
n.563A>C
c.-27A>C (n.-27A>C)
n.831A>C
n.337A>C
21g.32609943C>ACA410076122CFAP298,CFAP298-TCP10Lc.202G>T (p.Asp68Tyr)
c.105G>T
c.151G>T (p.Asp51Tyr)
n.562G>T
c.-28G>T (n.-28G>T)
n.830G>T
n.336G>T
21g.32609943C>GCA410076123CFAP298,CFAP298-TCP10Lc.202G>C (p.Asp68His)
c.105G>C
c.151G>C (p.Asp51His)
n.562G>C
c.-28G>C (n.-28G>C)
n.830G>C
n.336G>C
21g.32609943C>TCA410076128CFAP298,CFAP298-TCP10Lc.202G>A (p.Asp68Asn)
c.105G>A
c.151G>A (p.Asp51Asn)
n.562G>A
c.-28G>A (n.-28G>A)
n.830G>A
n.336G>A
gnomAD v4
21g.32609944A=CA2386304803CFAP298,CFAP298-TCP10Lc.201T= (p.Asp67=)
c.104T=
c.150T= (p.Asp50=)
n.561T=
c.-29T= (n.-29T=)
n.829T=
n.335T=
21g.32609944A>CCA410076130CFAP298,CFAP298-TCP10Lc.201T>G (p.Asp67Glu)
c.104T>G
c.150T>G (p.Asp50Glu)
n.561T>G
c.-29T>G (n.-29T>G)
n.829T>G
n.335T>G
21g.32609944A>GCA512144149CFAP298,CFAP298-TCP10Lc.201T>C (p.Asp67=)
c.104T>C
c.150T>C (p.Asp50=)
n.561T>C
c.-29T>C (n.-29T>C)
n.829T>C
n.335T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32609944A>TCA410076131CFAP298,CFAP298-TCP10Lc.201T>A (p.Asp67Glu)
c.104T>A
c.150T>A (p.Asp50Glu)
n.561T>A
c.-29T>A (n.-29T>A)
n.829T>A
n.335T>A
21g.32609945T>ACA410076132CFAP298,CFAP298-TCP10Lc.200A>T (p.Asp67Val)
c.103A>T
c.149A>T (p.Asp50Val)
n.560A>T
c.-30A>T (n.-30A>T)
n.828A>T
n.334A>T
21g.32609945T>CCA10002943CFAP298,CFAP298-TCP10Lc.200A>G (p.Asp67Gly)
c.103A>G
c.149A>G (p.Asp50Gly)
n.560A>G
c.-30A>G (n.-30A>G)
n.828A>G
n.334A>G
dbSNP ExAC gnomAD v2 gnomAD v4
21g.32609945T>GCA410076133CFAP298,CFAP298-TCP10Lc.200A>C (p.Asp67Ala)
c.103A>C
c.149A>C (p.Asp50Ala)
n.560A>C
c.-30A>C (n.-30A>C)
n.828A>C
n.334A>C
21g.32609945T=CA2386304804CFAP298,CFAP298-TCP10Lc.200A= (p.Asp67=)
c.103A=
c.149A= (p.Asp50=)
n.560A=
c.-30A= (n.-30A=)
n.828A=
n.334A=
21g.32609946C>ACA410076138CFAP298,CFAP298-TCP10Lc.199G>T (p.Asp67Tyr)
c.102G>T
c.148G>T (p.Asp50Tyr)
n.559G>T
c.-31G>T (n.-31G>T)
n.827G>T
n.333G>T
21g.32609946C=CA2386304805CFAP298,CFAP298-TCP10Lc.199G= (p.Asp67=)
c.102G=
c.148G= (p.Asp50=)
n.559G=
c.-31G= (n.-31G=)
n.827G=
n.333G=
21g.32609946C>GCA410076135CFAP298,CFAP298-TCP10Lc.199G>C (p.Asp67His)
c.102G>C
c.148G>C (p.Asp50His)
n.559G>C
c.-31G>C (n.-31G>C)
n.827G>C
n.333G>C
21g.32609946C>TCA10002944CFAP298,CFAP298-TCP10Lc.199G>A (p.Asp67Asn)
c.102G>A
c.148G>A (p.Asp50Asn)
n.559G>A
c.-31G>A (n.-31G>A)
n.827G>A
n.333G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609947G>ACA10002945CFAP298,CFAP298-TCP10Lc.198C>T (p.Thr66=)
c.101C>T
c.147C>T (p.Thr49=)
n.558C>T
c.-32C>T (n.-32C>T)
n.826C>T
n.332C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609947G>CCA512144150CFAP298,CFAP298-TCP10Lc.198C>G (p.Thr66=)
c.101C>G
c.147C>G (p.Thr49=)
n.558C>G
c.-32C>G (n.-32C>G)
n.826C>G
n.332C>G
21g.32609947G=CA2386304806CFAP298,CFAP298-TCP10Lc.198C= (p.Thr66=)
c.101C=
c.147C= (p.Thr49=)
n.558C=
c.-32C= (n.-32C=)
n.826C=
n.332C=
21g.32609947G>TCA512144151CFAP298,CFAP298-TCP10Lc.198C>A (p.Thr66=)
c.101C>A
c.147C>A (p.Thr49=)
n.558C>A
c.-32C>A (n.-32C>A)
n.826C>A
n.332C>A
21g.32609948G>ACA10002946CFAP298,CFAP298-TCP10Lc.197C>T (p.Thr66Ile)
c.100C>T
c.146C>T (p.Thr49Ile)
n.557C>T
c.-33C>T (n.-33C>T)
n.825C>T
n.331C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32609948G>CCA410076141CFAP298,CFAP298-TCP10Lc.197C>G (p.Thr66Ser)
c.100C>G
c.146C>G (p.Thr49Ser)
n.557C>G
c.-33C>G (n.-33C>G)
n.825C>G
n.331C>G
21g.32609948G=CA2386304807CFAP298,CFAP298-TCP10Lc.197C= (p.Thr66=)
c.100C=
c.146C= (p.Thr49=)
n.557C=
c.-33C= (n.-33C=)
n.825C=
n.331C=
21g.32609948G>TCA410076142CFAP298,CFAP298-TCP10Lc.197C>A (p.Thr66Asn)
c.100C>A
c.146C>A (p.Thr49Asn)
n.557C>A
c.-33C>A (n.-33C>A)
n.825C>A
n.331C>A
21g.32609949T>ACA410076143CFAP298,CFAP298-TCP10Lc.196A>T (p.Thr66Ser)
c.99A>T
c.145A>T (p.Thr49Ser)
n.556A>T
c.-34A>T (n.-34A>T)
n.824A>T
n.330A>T
21g.32609949T>CCA410076144CFAP298,CFAP298-TCP10Lc.196A>G (p.Thr66Ala)
c.99A>G
c.145A>G (p.Thr49Ala)
n.556A>G
c.-34A>G (n.-34A>G)
n.824A>G
n.330A>G
21g.32609949T>GCA410076145CFAP298,CFAP298-TCP10Lc.196A>C (p.Thr66Pro)
c.99A>C
c.145A>C (p.Thr49Pro)
n.556A>C
c.-34A>C (n.-34A>C)
n.824A>C
n.330A>C
21g.32609950C>ACA512144155CFAP298,CFAP298-TCP10Lc.195G>T (p.Leu65=)
c.98G>T
c.144G>T (p.Leu48=)
n.555G>T
c.-35G>T (n.-35G>T)
n.823G>T
n.329G>T
21g.32609950C>GCA512144154CFAP298,CFAP298-TCP10Lc.195G>C (p.Leu65=)
c.98G>C
c.144G>C (p.Leu48=)
n.555G>C
c.-35G>C (n.-35G>C)
n.823G>C
n.329G>C
21g.32609950C>TCA512144153CFAP298,CFAP298-TCP10Lc.195G>A (p.Leu65=)
c.98G>A
c.144G>A (p.Leu48=)
n.555G>A
c.-35G>A (n.-35G>A)
n.823G>A
n.329G>A
COSMIC
21g.32609951A>CCA410076147CFAP298,CFAP298-TCP10Lc.194T>G (p.Leu65Arg)
c.97T>G
c.143T>G (p.Leu48Arg)
n.554T>G
c.-36T>G (n.-36T>G)
n.822T>G
n.328T>G
gnomAD v4
21g.32609951A>GCA410076149CFAP298,CFAP298-TCP10Lc.194T>C (p.Leu65Pro)
c.97T>C
c.143T>C (p.Leu48Pro)
n.554T>C
c.-36T>C (n.-36T>C)
n.822T>C
n.328T>C
21g.32609951A>TCA410076152CFAP298,CFAP298-TCP10Lc.194T>A (p.Leu65Gln)
c.97T>A
c.143T>A (p.Leu48Gln)
n.554T>A
c.-36T>A (n.-36T>A)
n.822T>A
n.328T>A
21g.32609952G>ACA512144156CFAP298,CFAP298-TCP10Lc.193C>T (p.Leu65=)
c.96C>T
c.142C>T (p.Leu48=)
n.553C>T
c.-37C>T (n.-37C>T)
n.821C>T
n.327C>T
gnomAD v4
21g.32609952G>CCA410076154CFAP298,CFAP298-TCP10Lc.193C>G (p.Leu65Val)
c.96C>G
c.142C>G (p.Leu48Val)
n.553C>G
c.-37C>G (n.-37C>G)
n.821C>G
n.327C>G
21g.32609952G>TCA410076155CFAP298,CFAP298-TCP10Lc.193C>A (p.Leu65Met)
c.96C>A
c.142C>A (p.Leu48Met)
n.553C>A
c.-37C>A (n.-37C>A)
n.821C>A
n.327C>A
21g.32609953T>ACA512144157CFAP298,CFAP298-TCP10Lc.192A>T (p.Gly64=)
c.95A>T
c.141A>T (p.Gly47=)
n.552A>T
c.-38A>T (n.-38A>T)
n.820A>T
n.326A>T
21g.32609953T>CCA512144158CFAP298,CFAP298-TCP10Lc.192A>G (p.Gly64=)
c.95A>G
c.141A>G (p.Gly47=)
n.552A>G
c.-38A>G (n.-38A>G)
n.820A>G
n.326A>G
ClinVar dbSNP COSMIC
21g.32609953T>GCA512144159CFAP298,CFAP298-TCP10Lc.192A>C (p.Gly64=)
c.95A>C
c.141A>C (p.Gly47=)
n.552A>C
c.-38A>C (n.-38A>C)
n.820A>C
n.326A>C
21g.32609953T=CA2386304808CFAP298,CFAP298-TCP10Lc.192A= (p.Gly64=)
c.95A=
c.141A= (p.Gly47=)
n.552A=
c.-38A= (n.-38A=)
n.820A=
n.326A=

Number of alleles fetched