Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37185282A>C | CA514767853 | C1QTNF6 | c.225T>G (p.Ser75=) n.3715T>G n.667T>G c.168T>G (p.Ser56=) | |
22 | g.37185282A>G | CA514767849 | C1QTNF6 | c.225T>C (p.Ser75=) n.3715T>C n.667T>C c.168T>C (p.Ser56=) | |
22 | g.37185282A>T | CA514767851 | C1QTNF6 | c.225T>A (p.Ser75=) n.3715T>A n.667T>A c.168T>A (p.Ser56=) | |
22 | g.37185283G>A | CA411432087 | C1QTNF6 | c.224C>T (p.Ser75Phe) n.3714C>T n.666C>T c.167C>T (p.Ser56Phe) | |
22 | g.37185283G>C | CA411432088 | C1QTNF6 | c.224C>G (p.Ser75Cys) n.3714C>G n.666C>G c.167C>G (p.Ser56Cys) | |
22 | g.37185283G>T | CA411432089 | C1QTNF6 | c.224C>A (p.Ser75Tyr) n.3714C>A n.666C>A c.167C>A (p.Ser56Tyr) | |
22 | g.37185284A= | CA2404224245 | C1QTNF6 | c.223T= (p.Ser75=) n.3713T= n.665T= c.166T= (p.Ser56=) | |
22 | g.37185284A>C | CA411432090 | C1QTNF6 | c.223T>G (p.Ser75Ala) n.3713T>G n.665T>G c.166T>G (p.Ser56Ala) | |
22 | g.37185284A>G | CA411432091 | C1QTNF6 | c.223T>C (p.Ser75Pro) n.3713T>C n.665T>C c.166T>C (p.Ser56Pro) | dbSNP |
22 | g.37185284A>T | CA411432092 | C1QTNF6 | c.223T>A (p.Ser75Thr) n.3713T>A n.665T>A c.166T>A (p.Ser56Thr) | |
22 | g.37185285G>A | CA514767856 | C1QTNF6 | c.222C>T (p.Ala74=) n.3712C>T n.664C>T c.165C>T (p.Ala55=) | dbSNP gnomAD v4 |
22 | g.37185285G>C | CA514767858 | C1QTNF6 | c.222C>G (p.Ala74=) n.3712C>G n.664C>G c.165C>G (p.Ala55=) | gnomAD v4 |
22 | g.37185285G= | CA2404224246 | C1QTNF6 | c.222C= (p.Ala74=) n.3712C= n.664C= c.165C= (p.Ala55=) | |
22 | g.37185285G>T | CA514767860 | C1QTNF6 | c.222C>A (p.Ala74=) n.3712C>A n.664C>A c.165C>A (p.Ala55=) | |
22 | g.37185286G>A | CA411432093 | C1QTNF6 | c.221C>T (p.Ala74Val) n.3711C>T n.663C>T c.164C>T (p.Ala55Val) | |
22 | g.37185286G>C | CA411432094 | C1QTNF6 | c.221C>G (p.Ala74Gly) n.3711C>G n.663C>G c.164C>G (p.Ala55Gly) | |
22 | g.37185286G>T | CA411432095 | C1QTNF6 | c.221C>A (p.Ala74Asp) n.3711C>A n.663C>A c.164C>A (p.Ala55Asp) | gnomAD v4 |
22 | g.37185287C>A | CA411432096 | C1QTNF6 | c.220G>T (p.Ala74Ser) n.3710G>T n.662G>T c.163G>T (p.Ala55Ser) | |
22 | g.37185287C>G | CA411432097 | C1QTNF6 | c.220G>C (p.Ala74Pro) n.3710G>C n.662G>C c.163G>C (p.Ala55Pro) | |
22 | g.37185287C>T | CA411432098 | C1QTNF6 | c.220G>A (p.Ala74Thr) n.3710G>A n.662G>A c.163G>A (p.Ala55Thr) | |
22 | g.37185288T>A | CA514767861 | C1QTNF6 | c.219A>T (p.Ser73=) n.3709A>T n.661A>T c.162A>T (p.Ser54=) | |
22 | g.37185288T>C | CA514767862 | C1QTNF6 | c.219A>G (p.Ser73=) n.3709A>G n.661A>G c.162A>G (p.Ser54=) | |
22 | g.37185288T>G | CA514767864 | C1QTNF6 | c.219A>C (p.Ser73=) n.3709A>C n.661A>C c.162A>C (p.Ser54=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37185288T= | CA2404224247 | C1QTNF6 | c.219A= (p.Ser73=) n.3709A= n.661A= c.162A= (p.Ser54=) | |
22 | g.37185289G>A | CA411432099 | C1QTNF6 | c.218C>T (p.Ser73Leu) n.3708C>T n.660C>T c.161C>T (p.Ser54Leu) | gnomAD v4 |
22 | g.37185289G>C | CA411432101 | C1QTNF6 | c.218C>G (p.Ser73Ter) n.3708C>G n.660C>G c.161C>G (p.Ser54Ter) | |
22 | g.37185289G>T | CA411432100 | C1QTNF6 | c.218C>A (p.Ser73Ter) n.3708C>A n.660C>A c.161C>A (p.Ser54Ter) | |
22 | g.37185290A>C | CA411432102 | C1QTNF6 | c.217T>G (p.Ser73Ala) n.3707T>G n.659T>G c.160T>G (p.Ser54Ala) | |
22 | g.37185290A>G | CA411432104 | C1QTNF6 | c.217T>C (p.Ser73Pro) n.3707T>C n.659T>C c.160T>C (p.Ser54Pro) | |
22 | g.37185290A>T | CA411432103 | C1QTNF6 | c.217T>A (p.Ser73Thr) n.3707T>A n.659T>A c.160T>A (p.Ser54Thr) | |
22 | g.37185291G>A | CA514767865 | C1QTNF6 | c.216C>T (p.Ser72=) n.3706C>T n.658C>T c.159C>T (p.Ser53=) | gnomAD v4 COSMIC |
22 | g.37185291G>C | CA514767867 | C1QTNF6 | c.216C>G (p.Ser72=) n.3706C>G n.658C>G c.159C>G (p.Ser53=) | |
22 | g.37185291G>T | CA514767869 | C1QTNF6 | c.216C>A (p.Ser72=) n.3706C>A n.658C>A c.159C>A (p.Ser53=) | |
22 | g.37185292G>A | CA411432105 | C1QTNF6 | c.215C>T (p.Ser72Phe) n.3705C>T n.657C>T c.158C>T (p.Ser53Phe) | |
22 | g.37185292G>C | CA411432106 | C1QTNF6 | c.215C>G (p.Ser72Cys) n.3705C>G n.657C>G c.158C>G (p.Ser53Cys) | |
22 | g.37185292G>T | CA411432107 | C1QTNF6 | c.215C>A (p.Ser72Tyr) n.3705C>A n.657C>A c.158C>A (p.Ser53Tyr) | |
22 | g.37185293del | CA2656502111 | C1QTNF6 | c.214del (p.Ser72ProfsTer24) n.3704del n.656del c.157del (p.Ser53ProfsTer24) | gnomAD v4 |
22 | g.37185293A>C | CA411432108 | C1QTNF6 | c.214T>G (p.Ser72Ala) n.3704T>G n.656T>G c.157T>G (p.Ser53Ala) | |
22 | g.37185293A>G | CA411432109 | C1QTNF6 | c.214T>C (p.Ser72Pro) n.3704T>C n.656T>C c.157T>C (p.Ser53Pro) | |
22 | g.37185293A>T | CA411432110 | C1QTNF6 | c.214T>A (p.Ser72Thr) n.3704T>A n.656T>A c.157T>A (p.Ser53Thr) | |
22 | g.37185294T>A | CA514767871 | C1QTNF6 | c.213A>T (p.Val71=) n.3703A>T n.655A>T c.156A>T (p.Val52=) | |
22 | g.37185294T>C | CA514767872 | C1QTNF6 | c.213A>G (p.Val71=) n.3703A>G n.655A>G c.156A>G (p.Val52=) | dbSNP |
22 | g.37185294T>G | CA514767875 | C1QTNF6 | c.213A>C (p.Val71=) n.3703A>C n.655A>C c.156A>C (p.Val52=) | |
22 | g.37185295A>C | CA411432111 | C1QTNF6 | c.212T>G (p.Val71Gly) n.3702T>G n.654T>G c.155T>G (p.Val52Gly) | |
22 | g.37185295A>G | CA411432112 | C1QTNF6 | c.212T>C (p.Val71Ala) n.3702T>C n.654T>C c.155T>C (p.Val52Ala) | |
22 | g.37185295A>T | CA411432113 | C1QTNF6 | c.212T>A (p.Val71Glu) n.3702T>A n.654T>A c.155T>A (p.Val52Glu) | |
22 | g.37185296C>A | CA411432114 | C1QTNF6 | c.211G>T (p.Val71Leu) n.3701G>T n.653G>T c.154G>T (p.Val52Leu) | |
22 | g.37185296C>G | CA411432115 | C1QTNF6 | c.211G>C (p.Val71Leu) n.3701G>C n.653G>C c.154G>C (p.Val52Leu) | |
22 | g.37185296C>T | CA411432116 | C1QTNF6 | c.211G>A (p.Val71Ile) n.3701G>A n.653G>A c.154G>A (p.Val52Ile) | |
22 | g.37185297A>C | CA411432118 | C1QTNF6 | c.210T>G (p.His70Gln) n.3700T>G n.652T>G c.153T>G (p.His51Gln) |