Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.32609853G>A | CA021253 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609853G>C | CA410075735 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609853G= | CA2386304769 | CFAP298,CFAP298-TCP10L | c.292C= (p.Arg98=) c.4C= (p.Arg2=) c.195C= c.241C= (p.Arg81=) n.652C= c.63C= (p.Asp21=) n.920C= n.426C= | |
21 | g.32609853G>T | CA512144101 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609854T>A | CA512144104 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609854T>C | CA512144103 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609854T>G | CA512144102 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609855C>A | CA410075738 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609855C>G | CA410075747 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609855C>T | CA410075746 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609856C>A | CA410075749 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609856C>G | CA410075753 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609856C>T | CA410075754 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609857A>C | CA410075756 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609857A>G | CA512144106 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609857A>T | CA512144105 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609858A= | CA2386304770 | CFAP298,CFAP298-TCP10L | c.287T= (p.Ile96=) c.190T= c.236T= (p.Ile79=) n.647T= c.58T= (p.Leu20=) n.915T= n.421T= | |
21 | g.32609858A>C | CA410075760 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609858A>G | CA10002930 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609858A>T | CA410075759 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609859T>A | CA410075761 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609859T>C | CA410075762 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609859T>G | CA410075764 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609859T= | CA2386304771 | CFAP298,CFAP298-TCP10L | c.286A= (p.Ile96=) c.189A= c.235A= (p.Ile79=) n.646A= c.57A= (p.Ile19=) n.914A= n.420A= | |
21 | g.32609860A>C | CA410075766 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609860A>G | CA512144107 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609860A>T | CA410075767 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609861T>A | CA410075769 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609861T>C | CA410075773 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609861T>G | CA410075775 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609861T= | CA2386304772 | CFAP298,CFAP298-TCP10L | c.284A= (p.Asp95=) c.187A= c.233A= (p.Asp78=) n.644A= c.55A= (p.Ile19=) n.912A= n.418A= | |
21 | g.32609862C>A | CA410075777 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609862C= | CA2386304773 | CFAP298,CFAP298-TCP10L | c.283G= (p.Asp95=) c.186G= c.232G= (p.Asp78=) n.643G= c.54G= (p.Met18=) n.911G= n.417G= | |
21 | g.32609862C>G | CA410075778 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609862C>T | CA410075780 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609863A>C | CA410075781 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609863A>G | CA512144108 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609863A>T | CA410075782 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609864T>A | CA410075786 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609864T>C | CA319431569 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609864T>G | CA410075785 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609864T= | CA2386304774 | CFAP298,CFAP298-TCP10L | c.281A= (p.Asp94=) c.184A= c.230A= (p.Asp77=) n.641A= c.52A= (p.Met18=) n.909A= n.415A= | |
21 | g.32609865C>A | CA410075788 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609865C>G | CA410075789 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609865C>T | CA410075790 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609866C>A | CA410075792 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609866C>G | CA410075794 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609866C>T | CA512144109 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609867T>A | CA410075796 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609867T>C | CA410075797 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609867T>G | CA410075798 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609867T= | CA2386304775 | CFAP298,CFAP298-TCP10L | c.278A= (p.Lys93=) c.181A= c.227A= (p.Lys76=) n.638A= c.49A= (p.Arg17=) n.906A= n.412A= | |
21 | g.32609868T>A | CA410075799 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609868T>C | CA410075801 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609868T>G | CA410075803 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609868T= | CA2386304776 | CFAP298,CFAP298-TCP10L | c.277A= (p.Lys93=) c.180A= c.226A= (p.Lys76=) n.637A= c.48A= (p.Lys16=) n.905A= n.411A= | |
21 | g.32609869T>A | CA410075805 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609869T>C | CA512144110 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609869T>G | CA410075806 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609869T= | CA2386304777 | CFAP298,CFAP298-TCP10L | c.276A= (p.Lys92=) c.179A= c.225A= (p.Lys75=) n.636A= c.47A= (p.Lys16=) n.904A= n.410A= | |
21 | g.32609870T>A | CA410075812 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609870T>C | CA410075809 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609870T>G | CA410075811 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609871T>A | CA410075813 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609871T>C | CA410075815 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609871T>G | CA410075817 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609872A>C | CA410075819 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609872A>G | CA512144111 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609872A>T | CA410075820 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609873A>C | CA410075822 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609873A>G | CA410075824 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609873A>T | CA410075825 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609874A>C | CA410075827 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609874A>G | CA410075828 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609874A>T | CA410075829 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609875C>A | CA512144113 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609875C= | CA2386304778 | CFAP298,CFAP298-TCP10L | c.270G= (p.Val90=) c.173G= c.219G= (p.Val73=) n.630G= c.41G= (p.Cys14=) n.898G= n.404G= | |
21 | g.32609875C>G | CA512144112 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609875C>T | CA10002931 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609876A= | CA2386304779 | CFAP298,CFAP298-TCP10L | c.269T= (p.Val90=) c.172T= c.218T= (p.Val73=) n.629T= c.40T= (p.Cys14=) n.897T= n.403T= | |
21 | g.32609876A>C | CA410075831 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609876A>G | CA10002932 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609876A>T | CA410075830 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609877C>A | CA410075832 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609877C>G | CA410075833 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609877C>T | CA410075835 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609878T>A | CA512144115 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609878T>C | CA512144116 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609878T>G | CA512144114 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609878T= | CA2386304780 | CFAP298,CFAP298-TCP10L | c.267A= (p.Ala89=) c.170A= c.216A= (p.Ala72=) n.627A= c.38A= (p.Gln13=) n.895A= n.401A= | |
21 | g.32609879G>A | CA410075837 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609879G>C | CA410075842 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609879G= | CA2386304781 | CFAP298,CFAP298-TCP10L | c.266C= (p.Ala89=) c.169C= c.215C= (p.Ala72=) n.626C= c.37C= (p.Gln13=) n.894C= n.400C= | |
21 | g.32609879G>T | CA410075843 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609880C>A | CA410075848 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609880C= | CA2386304782 | CFAP298,CFAP298-TCP10L | c.265G= (p.Ala89=) c.168G= c.214G= (p.Ala72=) n.625G= c.36G= (p.Val12=) n.893G= n.399G= | |
21 | g.32609880C>G | CA410075847 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609880C>T | CA410075846 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609881A= | CA2386304783 | CFAP298,CFAP298-TCP10L | c.264T= (p.Gly88=) c.167T= c.213T= (p.Gly71=) n.624T= c.35T= (p.Val12=) n.892T= n.398T= | |
21 | g.32609881A>C | CA512144118 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609881A>G | CA512144119 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609881A>T | CA512144117 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609882C>A | CA410075850 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609882C>G | CA410075852 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609882C>T | CA410075854 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609883C>A | CA410075856 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609883C>G | CA410075857 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609883C>T | CA410075859 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609884T>A | CA512144122 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609884T>C | CA512144120 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609884T>G | CA512144121 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609885C>A | CA410075860 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609885C>G | CA410075864 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609885C>T | CA410075862 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609886C>A | CA410075866 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609886C= | CA2386304784 | CFAP298,CFAP298-TCP10L | c.259G= (p.Gly87=) c.162G= c.208G= (p.Gly70=) n.619G= c.30G= (p.Ala10=) n.887G= n.393G= | |
21 | g.32609886C>G | CA410075868 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609886C>T | CA10002933 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609887G>A | CA10002934 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609887G>C | CA410075870 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609887G= | CA2386304785 | CFAP298,CFAP298-TCP10L | c.258C= (p.Ser86=) c.161C= c.207C= (p.Ser69=) n.618C= c.29C= (p.Ala10=) n.886C= n.392C= | |
21 | g.32609887G>T | CA410075872 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609888C>A | CA410075874 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609888C>G | CA410075875 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609888C>T | CA410075877 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609889T>A | CA410075879 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609889T>C | CA410075880 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609889T>G | CA410075881 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609890G>A | CA512144124 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609890G>C | CA512144123 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609890G>T | CA512144125 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609891G>A | CA10002935 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609891G>C | CA410075885 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609891G= | CA2386304786 | CFAP298,CFAP298-TCP10L | c.254C= (p.Pro85=) c.157C= c.203C= (p.Pro68=) n.614C= c.25C= (p.Pro9=) n.882C= n.388C= | |
21 | g.32609891G>T | CA410075883 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609892G>A | CA410075887 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609892G>C | CA410075889 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609892G= | CA2386304787 | CFAP298,CFAP298-TCP10L | c.253C= (p.Pro85=) c.156C= c.202C= (p.Pro68=) n.613C= c.24C= (p.Tyr8=) n.881C= n.387C= | |
21 | g.32609892G>T | CA410075890 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609893T>A | CA512144129 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609893T>C | CA512144127 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609893T>G | CA512144126 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609894A>C | CA410075896 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609894A>G | CA410075898 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609894A>T | CA410075902 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609895C>A | CA410075908 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609895C= | CA2386304788 | CFAP298,CFAP298-TCP10L | c.250G= (p.Val84=) c.153G= c.199G= (p.Val67=) n.610G= c.21G= (p.Ala7=) n.878G= n.384G= | |
21 | g.32609895C>G | CA410075904 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609895C>T | CA10583881 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609896G>A | CA319431613 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609896G>C | CA10002936 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609896G= | CA2386304789 | CFAP298,CFAP298-TCP10L | c.249C= (p.Cys83=) c.152C= c.198C= (p.Cys66=) n.609C= c.20C= (p.Ala7=) n.877C= n.383C= | |
21 | g.32609896G>T | CA410075910 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609897C>A | CA410075912 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609897C= | CA2386304790 | CFAP298,CFAP298-TCP10L | c.248G= (p.Cys83=) c.151G= c.197G= (p.Cys66=) n.608G= c.19G= (p.Ala7=) n.876G= n.382G= | |
21 | g.32609897C>G | CA10002937 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609897C>T | CA410075914 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609898A>C | CA410075916 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609898A>G | CA410075919 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609898A>T | CA410075918 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609899T>A | CA410075921 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609899T>C | CA512144131 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609899T>G | CA410075922 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609903del | CA2577475967 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609900T>A | CA10002938 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609900T>C | CA410075927 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609900T>G | CA410075930 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609900T= | CA2386304791 | CFAP298,CFAP298-TCP10L | c.245A= (p.Lys82=) c.148A= c.194A= (p.Lys65=) n.605A= c.16A= (p.Asn6=) n.873A= n.379A= | |
21 | g.32609901T>A | CA410075931 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609901T>C | CA410075935 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609901T>G | CA410075936 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609902T>A | CA410075938 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609902T>C | CA512144132 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609902T>G | CA410075939 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609903T>A | CA410075941 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609903T>C | CA410075945 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609903T>G | CA410075943 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609903T= | CA2386304792 | CFAP298,CFAP298-TCP10L | c.242A= (p.Glu81=) c.145A= c.191A= (p.Glu64=) n.602A= c.13A= (p.Lys5=) n.870A= n.376A= | |
21 | g.32609904C>A | CA410075946 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609904C>G | CA410075952 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609904C>T | CA410075950 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609905A= | CA2386304793 | CFAP298,CFAP298-TCP10L | c.240T= (p.Gly80=) c.143T= c.189T= (p.Gly63=) n.600T= c.11T= (p.Val4=) n.868T= n.374T= | |
21 | g.32609905A>C | CA512144135 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609905A>G | CA512144133 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609905A>T | CA512144134 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609906C>A | CA410075954 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609906C= | CA2386304794 | CFAP298,CFAP298-TCP10L | c.239G= (p.Gly80=) c.142G= c.188G= (p.Gly63=) n.599G= c.10G= (p.Val4=) n.867G= n.373G= | |
21 | g.32609906C>G | CA410075956 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609906C>T | CA10002939 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609907C>A | CA410075958 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609907C= | CA2386304795 | CFAP298,CFAP298-TCP10L | c.238G= (p.Gly80=) c.141G= c.187G= (p.Gly63=) n.598G= c.9G= (p.Gly3=) n.866G= n.372G= | |
21 | g.32609907C>G | CA410075961 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609907C>T | CA10002940 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609908C>A | CA410075963 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609908C= | CA2386304796 | CFAP298,CFAP298-TCP10L | c.237G= (p.Trp79=) c.140G= c.186G= (p.Trp62=) n.597G= c.8G= (p.Gly3=) n.865G= n.371G= | |
21 | g.32609908C>G | CA410075965 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609908C>T | CA410075966 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609909C>A | CA410075968 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609909C= | CA2386304797 | CFAP298,CFAP298-TCP10L | c.236G= (p.Trp79=) c.139G= c.185G= (p.Trp62=) n.596G= c.7G= (p.Gly3=) n.864G= n.370G= | |
21 | g.32609909C>G | CA410075969 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609909C>T | CA410075970 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609910A>C | CA410075972 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609910A>G | CA410075973 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609910A>T | CA410075974 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609911T>A | CA410075975 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609911T>C | CA512144137 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609911T>G | CA410075976 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609912T>A | CA410075982 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609912T>C | CA410075978 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609912T>G | CA410075980 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609913C>A | CA410075983 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609913C>G | CA410075984 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609913C>T | CA410075987 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609914A>C | CA410075988 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609914A>G | CA512144138 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609914A>T | CA410075990 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609915T>A | CA410075992 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609915T>C | CA410075993 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609915T>G | CA410075995 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609916C>A | CA410075996 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609916C>G | CA410075998 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609916C>T | CA410076000 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609917C>A | CA410076001 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609917C>G | CA410076003 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609917C>T | CA512144139 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609918T>A | CA410076005 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609918T>C | CA10002941 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609918T>G | CA410076007 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609918T= | CA2386304798 | CFAP298,CFAP298-TCP10L | c.227A= (p.Lys76=) c.130A= c.176A= (p.Lys59=) n.587A= c.-3A= (n.-3A=) n.855A= n.361A= | |
21 | g.32609919T>A | CA410076009 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609919T>C | CA410076011 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609919T>G | CA410076013 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609920C>A | CA410076017 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609920C>G | CA410076019 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609920C>T | CA512144140 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609921A>C | CA410076022 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609921A>G | CA410076024 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609921A>T | CA410076025 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609922A= | CA2386304799 | CFAP298,CFAP298-TCP10L | c.223T= (p.Leu75=) c.126T= c.172T= (p.Leu58=) n.583T= c.-7T= (n.-7T=) n.851T= n.357T= | |
21 | g.32609922A>C | CA410076027 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609922A>G | CA319431695 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609922A>T | CA410076028 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609923T>A | CA410076030 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609923T>C | CA512144141 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609923T>G | CA410076031 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609924T>A | CA410076032 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609924T>C | CA410076033 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609924T>G | CA410076034 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609924T= | CA2386304800 | CFAP298,CFAP298-TCP10L | c.221A= (p.Lys74=) c.124A= c.170A= (p.Lys57=) n.581A= c.-9A= (n.-9A=) n.849A= n.355A= | |
21 | g.32609925T>A | CA410076036 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609925T>C | CA410076041 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609925T>G | CA410076042 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609926C>A | CA410076048 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609926C>G | CA410076050 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609926C>T | CA512144142 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609927A>C | CA410076051 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609927A>G | CA410076054 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609927A>T | CA410076056 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609928A= | CA2386304801 | CFAP298,CFAP298-TCP10L | c.217T= (p.Leu73=) c.120T= c.166T= (p.Leu56=) n.577T= c.-13T= (n.-13T=) n.845T= n.351T= | |
21 | g.32609928A>C | CA410076058 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609928A>G | CA10002942 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609928A>T | CA410076057 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609929T>A | CA410076061 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609929T>C | CA512144143 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609929T>G | CA410076060 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609930T>A | CA410076062 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609930T>C | CA410076063 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609930T>G | CA410076065 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609931C>A | CA410076067 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609931C= | CA2386304802 | CFAP298,CFAP298-TCP10L | c.214G= (p.Glu72=) c.117G= c.163G= (p.Glu55=) n.574G= c.-16G= (n.-16G=) n.842G= n.348G= | |
21 | g.32609931C>G | CA410076069 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609931C>T | CA410076071 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609932T>A | CA410076072 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609932T>C | CA512144144 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609932T>G | CA410076073 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609933T>A | CA410076075 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609933T>C | CA410076076 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609933T>G | CA410076078 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609934C>A | CA410076085 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609934C>G | CA410076083 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609934C>T | CA410076081 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609935A>C | CA410076087 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609935A>G | CA512144146 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609935A>T | CA512144145 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609936A>C | CA410076089 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609936A>G | CA410076090 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609936A>T | CA410076092 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609937T>A | CA410076094 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609937T>C | CA410076095 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609937T>G | CA410076099 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609938C>A | CA410076100 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609938C>G | CA410076102 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609938C>T | CA512144147 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609939T>A | CA410076104 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609939T>C | CA410076106 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609939T>G | CA410076107 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609940G>A | CA410076112 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609940G>C | CA410076111 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609940G>T | CA410076109 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609941A>C | CA410076114 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609941A>G | CA512144148 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609941A>T | CA410076116 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609942T>A | CA410076117 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609942T>C | CA410076118 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609942T>G | CA410076120 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609943C>A | CA410076122 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609943C>G | CA410076123 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609943C>T | CA410076128 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609944A= | CA2386304803 | CFAP298,CFAP298-TCP10L | c.201T= (p.Asp67=) c.104T= c.150T= (p.Asp50=) n.561T= c.-29T= (n.-29T=) n.829T= n.335T= | |
21 | g.32609944A>C | CA410076130 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609944A>G | CA512144149 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609944A>T | CA410076131 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609945T>A | CA410076132 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609945T>C | CA10002943 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609945T>G | CA410076133 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609945T= | CA2386304804 | CFAP298,CFAP298-TCP10L | c.200A= (p.Asp67=) c.103A= c.149A= (p.Asp50=) n.560A= c.-30A= (n.-30A=) n.828A= n.334A= | |
21 | g.32609946C>A | CA410076138 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609946C= | CA2386304805 | CFAP298,CFAP298-TCP10L | c.199G= (p.Asp67=) c.102G= c.148G= (p.Asp50=) n.559G= c.-31G= (n.-31G=) n.827G= n.333G= | |
21 | g.32609946C>G | CA410076135 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609946C>T | CA10002944 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609947G>A | CA10002945 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609947G>C | CA512144150 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609947G= | CA2386304806 | CFAP298,CFAP298-TCP10L | c.198C= (p.Thr66=) c.101C= c.147C= (p.Thr49=) n.558C= c.-32C= (n.-32C=) n.826C= n.332C= | |
21 | g.32609947G>T | CA512144151 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609948G>A | CA10002946 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609948G>C | CA410076141 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609948G= | CA2386304807 | CFAP298,CFAP298-TCP10L | c.197C= (p.Thr66=) c.100C= c.146C= (p.Thr49=) n.557C= c.-33C= (n.-33C=) n.825C= n.331C= | |
21 | g.32609948G>T | CA410076142 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609949T>A | CA410076143 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609949T>C | CA410076144 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609949T>G | CA410076145 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609950C>A | CA512144155 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609950C>G | CA512144154 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609950C>T | CA512144153 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609951A>C | CA410076147 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609951A>G | CA410076149 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609951A>T | CA410076152 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609952G>A | CA512144156 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609952G>C | CA410076154 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609952G>T | CA410076155 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609953T>A | CA512144157 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609953T>C | CA512144158 | CFAP298,CFAP298-TCP10L | c.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 |
21 | g.32609953T>G | CA512144159 | CFAP298,CFAP298-TCP10L | c.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 | |
21 | g.32609953T= | CA2386304808 | CFAP298,CFAP298-TCP10L | c.192A= (p.Gly64=) c.95A= c.141A= (p.Gly47=) n.552A= c.-38A= (n.-38A=) n.820A= n.326A= |