| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 22 | g.37185297A>G | CA514767880 | C1QTNF6 | c.210T>C (p.His70=) n.3700T>C n.652T>C c.153T>C (p.His51=) | gnomAD v4 |
| 22 | g.37185297A>T | CA411432117 | C1QTNF6 | c.210T>A (p.His70Gln) n.3700T>A n.652T>A c.153T>A (p.His51Gln) | |
| 22 | g.37185298T>A | CA411432119 | C1QTNF6 | c.209A>T (p.His70Leu) n.3699A>T n.651A>T c.152A>T (p.His51Leu) | |
| 22 | g.37185298T>C | CA10216996 | C1QTNF6 | c.209A>G (p.His70Arg) n.3699A>G n.651A>G c.152A>G (p.His51Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185298T>G | CA411432120 | C1QTNF6 | c.209A>C (p.His70Pro) n.3699A>C n.651A>C c.152A>C (p.His51Pro) | |
| 22 | g.37185298T= | CA2404224248 | C1QTNF6 | c.209A= (p.His70=) n.3699A= n.651A= c.152A= (p.His51=) | |
| 22 | g.37185299G>A | CA411432121 | C1QTNF6 | c.208C>T (p.His70Tyr) n.3698C>T n.650C>T c.151C>T (p.His51Tyr) | |
| 22 | g.37185299G>C | CA411432122 | C1QTNF6 | c.208C>G (p.His70Asp) n.3698C>G n.650C>G c.151C>G (p.His51Asp) | dbSNP |
| 22 | g.37185299G= | CA2404224249 | C1QTNF6 | c.208C= (p.His70=) n.3698C= n.650C= c.151C= (p.His51=) | |
| 22 | g.37185299G>T | CA411432123 | C1QTNF6 | c.208C>A (p.His70Asn) n.3698C>A n.650C>A c.151C>A (p.His51Asn) | |
| 22 | g.37185300G>A | CA514767885 | C1QTNF6 | c.207C>T (p.Ala69=) n.3697C>T n.649C>T c.150C>T (p.Ala50=) | |
| 22 | g.37185300G>C | CA514767884 | C1QTNF6 | c.207C>G (p.Ala69=) n.3697C>G n.649C>G c.150C>G (p.Ala50=) | |
| 22 | g.37185300G>T | CA514767882 | C1QTNF6 | c.207C>A (p.Ala69=) n.3697C>A n.649C>A c.150C>A (p.Ala50=) | |
| 22 | g.37185301G>A | CA411432124 | C1QTNF6 | c.206C>T (p.Ala69Val) n.3696C>T n.648C>T c.149C>T (p.Ala50Val) | dbSNP |
| 22 | g.37185301G>C | CA411432125 | C1QTNF6 | c.206C>G (p.Ala69Gly) n.3696C>G n.648C>G c.149C>G (p.Ala50Gly) | |
| 22 | g.37185301G= | CA2404224250 | C1QTNF6 | c.206C= (p.Ala69=) n.3696C= n.648C= c.149C= (p.Ala50=) | |
| 22 | g.37185301G>T | CA411432126 | C1QTNF6 | c.206C>A (p.Ala69Asp) n.3696C>A n.648C>A c.149C>A (p.Ala50Asp) | |
| 22 | g.37185302C>A | CA411432127 | C1QTNF6 | c.205G>T (p.Ala69Ser) n.3695G>T n.647G>T c.148G>T (p.Ala50Ser) | gnomAD v4 |
| 22 | g.37185302C>G | CA411432128 | C1QTNF6 | c.205G>C (p.Ala69Pro) n.3695G>C n.647G>C c.148G>C (p.Ala50Pro) | |
| 22 | g.37185302C>T | CA411432129 | C1QTNF6 | c.205G>A (p.Ala69Thr) n.3695G>A n.647G>A c.148G>A (p.Ala50Thr) | |
| 22 | g.37185303A>C | CA514767887 | C1QTNF6 | c.204T>G (p.Pro68=) n.3694T>G n.646T>G c.147T>G (p.Pro49=) | |
| 22 | g.37185303A>G | CA514767889 | C1QTNF6 | c.204T>C (p.Pro68=) n.3694T>C n.646T>C c.147T>C (p.Pro49=) | |
| 22 | g.37185303A>T | CA514767888 | C1QTNF6 | c.204T>A (p.Pro68=) n.3694T>A n.646T>A c.147T>A (p.Pro49=) | |
| 22 | g.37185304G>A | CA411432132 | C1QTNF6 | c.203C>T (p.Pro68Leu) n.3693C>T n.645C>T c.146C>T (p.Pro49Leu) | |
| 22 | g.37185304G>C | CA411432131 | C1QTNF6 | c.203C>G (p.Pro68Arg) n.3693C>G n.645C>G c.146C>G (p.Pro49Arg) | |
| 22 | g.37185304G>T | CA411432130 | C1QTNF6 | c.203C>A (p.Pro68His) n.3693C>A n.645C>A c.146C>A (p.Pro49His) | |
| 22 | g.37185305G>A | CA10216997 | C1QTNF6 | c.202C>T (p.Pro68Ser) n.3692C>T n.644C>T c.145C>T (p.Pro49Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185305G>C | CA411432133 | C1QTNF6 | c.202C>G (p.Pro68Ala) n.3692C>G n.644C>G c.145C>G (p.Pro49Ala) | |
| 22 | g.37185305G= | CA2404224251 | C1QTNF6 | c.202C= (p.Pro68=) n.3692C= n.644C= c.145C= (p.Pro49=) | |
| 22 | g.37185305G>T | CA411432134 | C1QTNF6 | c.202C>A (p.Pro68Thr) n.3692C>A n.644C>A c.145C>A (p.Pro49Thr) | gnomAD v4 |
| 22 | g.37185306A= | CA2404224252 | C1QTNF6 | c.201T= (p.Asp67=) n.3691T= n.643T= c.144T= (p.Asp48=) | |
| 22 | g.37185306A>C | CA411432135 | C1QTNF6 | c.201T>G (p.Asp67Glu) n.3691T>G n.643T>G c.144T>G (p.Asp48Glu) | |
| 22 | g.37185306A>G | CA514767892 | C1QTNF6 | c.201T>C (p.Asp67=) n.3691T>C n.643T>C c.144T>C (p.Asp48=) | |
| 22 | g.37185306A>T | CA10216998 | C1QTNF6 | c.201T>A (p.Asp67Glu) n.3691T>A n.643T>A c.144T>A (p.Asp48Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185307T>A | CA411432136 | C1QTNF6 | c.200A>T (p.Asp67Val) n.3690A>T n.642A>T c.143A>T (p.Asp48Val) | |
| 22 | g.37185307T>C | CA411432137 | C1QTNF6 | c.200A>G (p.Asp67Gly) n.3690A>G n.642A>G c.143A>G (p.Asp48Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185307T>G | CA411432138 | C1QTNF6 | c.200A>C (p.Asp67Ala) n.3690A>C n.642A>C c.143A>C (p.Asp48Ala) | dbSNP |
| 22 | g.37185307T= | CA2404224253 | C1QTNF6 | c.200A= (p.Asp67=) n.3690A= n.642A= c.143A= (p.Asp48=) | |
| 22 | g.37185308C>A | CA411432139 | C1QTNF6 | c.199G>T (p.Asp67Tyr) n.3689G>T n.641G>T c.142G>T (p.Asp48Tyr) | |
| 22 | g.37185308C= | CA2404224254 | C1QTNF6 | c.199G= (p.Asp67=) n.3689G= n.641G= c.142G= (p.Asp48=) | |
| 22 | g.37185308C>G | CA411432140 | C1QTNF6 | c.199G>C (p.Asp67His) n.3689G>C n.641G>C c.142G>C (p.Asp48His) | |
| 22 | g.37185308C>T | CA411432141 | C1QTNF6 | c.199G>A (p.Asp67Asn) n.3689G>A n.641G>A c.142G>A (p.Asp48Asn) | dbSNP gnomAD v4 |
| 22 | g.37185309C>A | CA514767893 | C1QTNF6 | c.198G>T (p.Leu66=) n.3688G>T n.640G>T c.141G>T (p.Leu47=) | |
| 22 | g.37185309C>G | CA514767894 | C1QTNF6 | c.198G>C (p.Leu66=) n.3688G>C n.640G>C c.141G>C (p.Leu47=) | |
| 22 | g.37185309C>T | CA514767896 | C1QTNF6 | c.198G>A (p.Leu66=) n.3688G>A n.640G>A c.141G>A (p.Leu47=) | |
| 22 | g.37185310A= | CA2404224256 | C1QTNF6 | c.197T= (p.Leu66=) n.3687T= n.639T= c.140T= (p.Leu47=) | |
| 22 | g.37185310A>C | CA411432142 | C1QTNF6 | c.197T>G (p.Leu66Arg) n.3687T>G n.639T>G c.140T>G (p.Leu47Arg) | dbSNP |
| 22 | g.37185310A>G | CA411432143 | C1QTNF6 | c.197T>C (p.Leu66Pro) n.3687T>C n.639T>C c.140T>C (p.Leu47Pro) | |
| 22 | g.37185310A>T | CA411432144 | C1QTNF6 | c.197T>A (p.Leu66Gln) n.3687T>A n.639T>A c.140T>A (p.Leu47Gln) | |
| 22 | g.37185310_37185311delinsAG | CA2404224255 | C1QTNF6 | c.196_197delinsCT (p.Leu66=) n.3686_3687delinsCT n.638_639delinsCT c.139_140delinsCT (p.Leu47=) | |
| 22 | g.37185311G>A | CA514767899 | C1QTNF6 | c.196C>T (p.Leu66=) n.3686C>T n.638C>T c.139C>T (p.Leu47=) | dbSNP |
| 22 | g.37185311G>C | CA411432145 | C1QTNF6 | c.196C>G (p.Leu66Val) n.3686C>G n.638C>G c.139C>G (p.Leu47Val) | |
| 22 | g.37185311G= | CA2404224257 | C1QTNF6 | c.196C= (p.Leu66=) n.3686C= n.638C= c.139C= (p.Leu47=) | |
| 22 | g.37185311G>T | CA411432146 | C1QTNF6 | c.196C>A (p.Leu66Met) n.3686C>A n.638C>A c.139C>A (p.Leu47Met) | |
| 22 | g.37185315del | CA639393803 | C1QTNF6 | c.196del (p.Leu66TrpfsTer30) n.3686del n.638del c.139del (p.Leu47TrpfsTer30) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185312G>A | CA514767900 | C1QTNF6 | c.195C>T (p.Pro65=) n.3685C>T n.637C>T c.138C>T (p.Pro46=) | |
| 22 | g.37185312G>C | CA514767901 | C1QTNF6 | c.195C>G (p.Pro65=) n.3685C>G n.637C>G c.138C>G (p.Pro46=) | |
| 22 | g.37185312G>T | CA514767902 | C1QTNF6 | c.195C>A (p.Pro65=) n.3685C>A n.637C>A c.138C>A (p.Pro46=) | |
| 22 | g.37185313G>A | CA10217000 | C1QTNF6 | c.194C>T (p.Pro65Leu) n.3684C>T n.636C>T c.137C>T (p.Pro46Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185313G>C | CA10216999 | C1QTNF6 | c.194C>G (p.Pro65Arg) n.3684C>G n.636C>G c.137C>G (p.Pro46Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185313G= | CA2404224258 | C1QTNF6 | c.194C= (p.Pro65=) n.3684C= n.636C= c.137C= (p.Pro46=) | |
| 22 | g.37185313G>T | CA411432147 | C1QTNF6 | c.194C>A (p.Pro65His) n.3684C>A n.636C>A c.137C>A (p.Pro46His) | |
| 22 | g.37185314G>A | CA411432148 | C1QTNF6 | c.193C>T (p.Pro65Ser) n.3683C>T n.635C>T c.136C>T (p.Pro46Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185314G>C | CA411432149 | C1QTNF6 | c.193C>G (p.Pro65Ala) n.3683C>G n.635C>G c.136C>G (p.Pro46Ala) | gnomAD v4 |
| 22 | g.37185314G= | CA2404224259 | C1QTNF6 | c.193C= (p.Pro65=) n.3683C= n.635C= c.136C= (p.Pro46=) | |
| 22 | g.37185314G>T | CA411432150 | C1QTNF6 | c.193C>A (p.Pro65Thr) n.3683C>A n.635C>A c.136C>A (p.Pro46Thr) | gnomAD v4 |
| 22 | g.37185315G>A | CA324042632 | C1QTNF6 | c.192C>T (p.Asp64=) n.3682C>T n.634C>T c.135C>T (p.Asp45=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185315G>C | CA411432151 | C1QTNF6 | c.192C>G (p.Asp64Glu) n.3682C>G n.634C>G c.135C>G (p.Asp45Glu) | |
| 22 | g.37185315G= | CA2404224260 | C1QTNF6 | c.192C= (p.Asp64=) n.3682C= n.634C= c.135C= (p.Asp45=) | |
| 22 | g.37185315G>T | CA10217001 | C1QTNF6 | c.192C>A (p.Asp64Glu) n.3682C>A n.634C>A c.135C>A (p.Asp45Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185316T>A | CA411432152 | C1QTNF6 | c.191A>T (p.Asp64Val) n.3681A>T n.633A>T c.134A>T (p.Asp45Val) | |
| 22 | g.37185316T>C | CA10217002 | C1QTNF6 | c.191A>G (p.Asp64Gly) n.3681A>G n.633A>G c.134A>G (p.Asp45Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185316T>G | CA411432153 | C1QTNF6 | c.191A>C (p.Asp64Ala) n.3681A>C n.633A>C c.134A>C (p.Asp45Ala) | dbSNP |
| 22 | g.37185316T= | CA2404224261 | C1QTNF6 | c.191A= (p.Asp64=) n.3681A= n.633A= c.134A= (p.Asp45=) | |
| 22 | g.37185317C>A | CA411432156 | C1QTNF6 | c.190G>T (p.Asp64Tyr) n.3680G>T n.632G>T c.133G>T (p.Asp45Tyr) | |
| 22 | g.37185317C>G | CA411432154 | C1QTNF6 | c.190G>C (p.Asp64His) n.3680G>C n.632G>C c.133G>C (p.Asp45His) | |
| 22 | g.37185317C>T | CA411432155 | C1QTNF6 | c.190G>A (p.Asp64Asn) n.3680G>A n.632G>A c.133G>A (p.Asp45Asn) | |
| 22 | g.37185318C>A | CA411432157 | C1QTNF6 | c.189G>T (p.Glu63Asp) n.3679G>T n.631G>T c.132G>T (p.Glu44Asp) | |
| 22 | g.37185318C= | CA2404224262 | C1QTNF6 | c.189G= (p.Glu63=) n.3679G= n.631G= c.132G= (p.Glu44=) | |
| 22 | g.37185318C>G | CA411432158 | C1QTNF6 | c.189G>C (p.Glu63Asp) n.3679G>C n.631G>C c.132G>C (p.Glu44Asp) | dbSNP gnomAD v4 |
| 22 | g.37185318C>T | CA514767912 | C1QTNF6 | c.189G>A (p.Glu63=) n.3679G>A n.631G>A c.132G>A (p.Glu44=) | gnomAD v4 |
| 22 | g.37185319T>A | CA411432159 | C1QTNF6 | c.188A>T (p.Glu63Val) n.3678A>T n.630A>T c.131A>T (p.Glu44Val) | |
| 22 | g.37185319T>C | CA411432160 | C1QTNF6 | c.188A>G (p.Glu63Gly) n.3678A>G n.630A>G c.131A>G (p.Glu44Gly) | |
| 22 | g.37185319T>G | CA411432161 | C1QTNF6 | c.188A>C (p.Glu63Ala) n.3678A>C n.630A>C c.131A>C (p.Glu44Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185319T= | CA2404224263 | C1QTNF6 | c.188A= (p.Glu63=) n.3678A= n.630A= c.131A= (p.Glu44=) | |
| 22 | g.37185320C>A | CA411432162 | C1QTNF6 | c.187G>T (p.Glu63Ter) n.3677G>T n.629G>T c.130G>T (p.Glu44Ter) | |
| 22 | g.37185320C>G | CA411432163 | C1QTNF6 | c.187G>C (p.Glu63Gln) n.3677G>C n.629G>C c.130G>C (p.Glu44Gln) | COSMIC |
| 22 | g.37185320C>T | CA411432164 | C1QTNF6 | c.187G>A (p.Glu63Lys) n.3677G>A n.629G>A c.130G>A (p.Glu44Lys) | gnomAD v4 |
| 22 | g.37185321A>C | CA514767915 | C1QTNF6 | c.186T>G (p.Ser62=) n.3676T>G n.628T>G c.129T>G (p.Ser43=) | |
| 22 | g.37185321A>G | CA514767917 | C1QTNF6 | c.186T>C (p.Ser62=) n.3676T>C n.628T>C c.129T>C (p.Ser43=) | |
| 22 | g.37185321A>T | CA514767919 | C1QTNF6 | c.186T>A (p.Ser62=) n.3676T>A n.628T>A c.129T>A (p.Ser43=) | |
| 22 | g.37185322G>A | CA411432165 | C1QTNF6 | c.185C>T (p.Ser62Phe) n.3675C>T n.627C>T c.128C>T (p.Ser43Phe) | |
| 22 | g.37185322G>C | CA411432166 | C1QTNF6 | c.185C>G (p.Ser62Cys) n.3675C>G n.627C>G c.128C>G (p.Ser43Cys) | |
| 22 | g.37185322G>T | CA411432167 | C1QTNF6 | c.185C>A (p.Ser62Tyr) n.3675C>A n.627C>A c.128C>A (p.Ser43Tyr) | |
| 22 | g.37185323A>C | CA411432168 | C1QTNF6 | c.184T>G (p.Ser62Ala) n.3674T>G n.626T>G c.127T>G (p.Ser43Ala) | |
| 22 | g.37185323A>G | CA411432169 | C1QTNF6 | c.184T>C (p.Ser62Pro) n.3674T>C n.626T>C c.127T>C (p.Ser43Pro) | |
| 22 | g.37185323A>T | CA411432170 | C1QTNF6 | c.184T>A (p.Ser62Thr) n.3674T>A n.626T>A c.127T>A (p.Ser43Thr) | |
| 22 | g.37185324G>A | CA10217003 | C1QTNF6 | c.183C>T (p.Asp61=) n.3673C>T n.625C>T c.126C>T (p.Asp42=) | dbSNP ExAC gnomAD v2 |
| 22 | g.37185324G>C | CA411432172 | C1QTNF6 | c.183C>G (p.Asp61Glu) n.3673C>G n.625C>G c.126C>G (p.Asp42Glu) | |
| 22 | g.37185324G= | CA2404224264 | C1QTNF6 | c.183C= (p.Asp61=) n.3673C= n.625C= c.126C= (p.Asp42=) | |
| 22 | g.37185324G>T | CA411432171 | C1QTNF6 | c.183C>A (p.Asp61Glu) n.3673C>A n.625C>A c.126C>A (p.Asp42Glu) | |
| 22 | g.37185325T>A | CA411432173 | C1QTNF6 | c.182A>T (p.Asp61Val) n.3672A>T n.624A>T c.125A>T (p.Asp42Val) | |
| 22 | g.37185325T>C | CA411432174 | C1QTNF6 | c.182A>G (p.Asp61Gly) n.3672A>G n.624A>G c.125A>G (p.Asp42Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185325T>G | CA411432175 | C1QTNF6 | c.182A>C (p.Asp61Ala) n.3672A>C n.624A>C c.125A>C (p.Asp42Ala) | |
| 22 | g.37185325T= | CA2404224265 | C1QTNF6 | c.182A= (p.Asp61=) n.3672A= n.624A= c.125A= (p.Asp42=) | |
| 22 | g.37185326C>A | CA411432176 | C1QTNF6 | c.181G>T (p.Asp61Tyr) n.3671G>T n.623G>T c.124G>T (p.Asp42Tyr) | |
| 22 | g.37185326C>G | CA411432177 | C1QTNF6 | c.181G>C (p.Asp61His) n.3671G>C n.623G>C c.124G>C (p.Asp42His) | |
| 22 | g.37185326C>T | CA411432178 | C1QTNF6 | c.181G>A (p.Asp61Asn) n.3671G>A n.623G>A c.124G>A (p.Asp42Asn) | |
| 22 | g.37185327A>C | CA411432179 | C1QTNF6 | c.180T>G (p.Cys60Trp) n.3670T>G n.622T>G c.123T>G (p.Cys41Trp) | |
| 22 | g.37185327A>G | CA514767923 | C1QTNF6 | c.180T>C (p.Cys60=) n.3670T>C n.622T>C c.123T>C (p.Cys41=) | |
| 22 | g.37185327A>T | CA411432180 | C1QTNF6 | c.180T>A (p.Cys60Ter) n.3670T>A n.622T>A c.123T>A (p.Cys41Ter) | |
| 22 | g.37185328C>A | CA411432181 | C1QTNF6 | c.179G>T (p.Cys60Phe) n.3669G>T n.621G>T c.122G>T (p.Cys41Phe) | |
| 22 | g.37185328C>G | CA411432182 | C1QTNF6 | c.179G>C (p.Cys60Ser) n.3669G>C n.621G>C c.122G>C (p.Cys41Ser) | |
| 22 | g.37185328C>T | CA411432183 | C1QTNF6 | c.179G>A (p.Cys60Tyr) n.3669G>A n.621G>A c.122G>A (p.Cys41Tyr) | |
| 22 | g.37185329A>C | CA411432184 | C1QTNF6 | c.178T>G (p.Cys60Gly) n.3668T>G n.620T>G c.121T>G (p.Cys41Gly) | |
| 22 | g.37185329A>G | CA411432185 | C1QTNF6 | c.178T>C (p.Cys60Arg) n.3668T>C n.620T>C c.121T>C (p.Cys41Arg) | |
| 22 | g.37185329A>T | CA411432186 | C1QTNF6 | c.178T>A (p.Cys60Ser) n.3668T>A n.620T>A c.121T>A (p.Cys41Ser) | |
| 22 | g.37185330G>A | CA514767925 | C1QTNF6 | c.177C>T (p.Cys59=) n.3667C>T n.619C>T c.120C>T (p.Cys40=) | |
| 22 | g.37185330G>C | CA10217004 | C1QTNF6 | c.177C>G (p.Cys59Trp) n.3667C>G n.619C>G c.120C>G (p.Cys40Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185330G= | CA2404224266 | C1QTNF6 | c.177C= (p.Cys59=) n.3667C= n.619C= c.120C= (p.Cys40=) | |
| 22 | g.37185330G>T | CA411432187 | C1QTNF6 | c.177C>A (p.Cys59Ter) n.3667C>A n.619C>A c.120C>A (p.Cys40Ter) | |
| 22 | g.37185331C>A | CA411432188 | C1QTNF6 | c.176G>T (p.Cys59Phe) n.3666G>T n.618G>T c.119G>T (p.Cys40Phe) | |
| 22 | g.37185331C>G | CA411432189 | C1QTNF6 | c.176G>C (p.Cys59Ser) n.3666G>C n.618G>C c.119G>C (p.Cys40Ser) | |
| 22 | g.37185331C>T | CA411432190 | C1QTNF6 | c.176G>A (p.Cys59Tyr) n.3666G>A n.618G>A c.119G>A (p.Cys40Tyr) | COSMIC |
| 22 | g.37185332A= | CA2404224267 | C1QTNF6 | c.175T= (p.Cys59=) n.3665T= n.617T= c.118T= (p.Cys40=) | |
| 22 | g.37185332A>C | CA411432191 | C1QTNF6 | c.175T>G (p.Cys59Gly) n.3665T>G n.617T>G c.118T>G (p.Cys40Gly) | dbSNP |
| 22 | g.37185332A>G | CA411432192 | C1QTNF6 | c.175T>C (p.Cys59Arg) n.3665T>C n.617T>C c.118T>C (p.Cys40Arg) | |
| 22 | g.37185332A>T | CA411432193 | C1QTNF6 | c.175T>A (p.Cys59Ser) n.3665T>A n.617T>A c.118T>A (p.Cys40Ser) | |
| 22 | g.37185333C>A | CA514767929 | C1QTNF6 | c.174G>T (p.Arg58=) n.3664G>T n.616G>T c.117G>T (p.Arg39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185333C= | CA2404224268 | C1QTNF6 | c.174G= (p.Arg58=) n.3664G= n.616G= c.117G= (p.Arg39=) | |
| 22 | g.37185333C>G | CA514767928 | C1QTNF6 | c.174G>C (p.Arg58=) n.3664G>C n.616G>C c.117G>C (p.Arg39=) | |
| 22 | g.37185333C>T | CA10217005 | C1QTNF6 | c.174G>A (p.Arg58=) n.3664G>A n.616G>A c.117G>A (p.Arg39=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185334C>A | CA411432194 | C1QTNF6 | c.173G>T (p.Arg58Leu) n.3663G>T n.615G>T c.116G>T (p.Arg39Leu) | |
| 22 | g.37185334C= | CA2404224269 | C1QTNF6 | c.173G= (p.Arg58=) n.3663G= n.615G= c.116G= (p.Arg39=) | |
| 22 | g.37185334C>G | CA411432196 | C1QTNF6 | c.173G>C (p.Arg58Pro) n.3663G>C n.615G>C c.116G>C (p.Arg39Pro) | |
| 22 | g.37185334C>T | CA411432195 | C1QTNF6 | c.173G>A (p.Arg58Gln) n.3663G>A n.615G>A c.116G>A (p.Arg39Gln) | dbSNP gnomAD v4 |
| 22 | g.37185335G>A | CA10217006 | C1QTNF6 | c.172C>T (p.Arg58Trp) n.3662C>T n.614C>T c.115C>T (p.Arg39Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.37185335G>C | CA411432197 | C1QTNF6 | c.172C>G (p.Arg58Gly) n.3662C>G n.614C>G c.115C>G (p.Arg39Gly) | dbSNP gnomAD v4 |
| 22 | g.37185335G= | CA2404224270 | C1QTNF6 | c.172C= (p.Arg58=) n.3662C= n.614C= c.115C= (p.Arg39=) | |
| 22 | g.37185335G>T | CA514767930 | C1QTNF6 | c.172C>A (p.Arg58=) n.3662C>A n.614C>A c.115C>A (p.Arg39=) | |
| 22 | g.37185336T>A | CA411432198 | C1QTNF6 | c.171A>T (p.Gln57His) n.3661A>T n.613A>T c.114A>T (p.Gln38His) | |
| 22 | g.37185336T>C | CA514767931 | C1QTNF6 | c.171A>G (p.Gln57=) n.3661A>G n.613A>G c.114A>G (p.Gln38=) | |
| 22 | g.37185336T>G | CA411432199 | C1QTNF6 | c.171A>C (p.Gln57His) n.3661A>C n.613A>C c.114A>C (p.Gln38His) | |
| 22 | g.37185337del | CA2577706630 | C1QTNF6 | c.171del (p.Gln57HisfsTer?) n.3661del n.613del c.114del (p.Gln38HisfsTer?) | |
| 22 | g.37185337T>A | CA411432202 | C1QTNF6 | c.170A>T (p.Gln57Leu) n.3660A>T n.612A>T c.113A>T (p.Gln38Leu) | |
| 22 | g.37185337T>C | CA411432200 | C1QTNF6 | c.170A>G (p.Gln57Arg) n.3660A>G n.612A>G c.113A>G (p.Gln38Arg) | |
| 22 | g.37185337T>G | CA411432201 | C1QTNF6 | c.170A>C (p.Gln57Pro) n.3660A>C n.612A>C c.113A>C (p.Gln38Pro) | dbSNP |
| 22 | g.37185337T= | CA2404224271 | C1QTNF6 | c.170A= (p.Gln57=) n.3660A= n.612A= c.113A= (p.Gln38=) | |
| 22 | g.37185338G>A | CA411432203 | C1QTNF6 | c.169C>T (p.Gln57Ter) n.3659C>T n.611C>T c.112C>T (p.Gln38Ter) | gnomAD v4 |
| 22 | g.37185338G>C | CA411432204 | C1QTNF6 | c.169C>G (p.Gln57Glu) n.3659C>G n.611C>G c.112C>G (p.Gln38Glu) | |
| 22 | g.37185338G>T | CA411432205 | C1QTNF6 | c.169C>A (p.Gln57Lys) n.3659C>A n.611C>A c.112C>A (p.Gln38Lys) | |
| 22 | g.37185339G>A | CA10217007 | C1QTNF6 | c.168C>T (p.Cys56=) n.3658C>T n.610C>T c.111C>T (p.Cys37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185339G>C | CA411432206 | C1QTNF6 | c.168C>G (p.Cys56Trp) n.3658C>G n.610C>G c.111C>G (p.Cys37Trp) | |
| 22 | g.37185339G= | CA2404224272 | C1QTNF6 | c.168C= (p.Cys56=) n.3658C= n.610C= c.111C= (p.Cys37=) | |
| 22 | g.37185339G>T | CA411432207 | C1QTNF6 | c.168C>A (p.Cys56Ter) n.3658C>A n.610C>A c.111C>A (p.Cys37Ter) | |
| 22 | g.37185340C>A | CA411432208 | C1QTNF6 | c.167G>T (p.Cys56Phe) n.3657G>T n.609G>T c.110G>T (p.Cys37Phe) | |
| 22 | g.37185340C>G | CA411432209 | C1QTNF6 | c.167G>C (p.Cys56Ser) n.3657G>C n.609G>C c.110G>C (p.Cys37Ser) | |
| 22 | g.37185340C>T | CA411432210 | C1QTNF6 | c.167G>A (p.Cys56Tyr) n.3657G>A n.609G>A c.110G>A (p.Cys37Tyr) | |
| 22 | g.37185341A>C | CA411432211 | C1QTNF6 | c.166T>G (p.Cys56Gly) n.3656T>G n.608T>G c.109T>G (p.Cys37Gly) | |
| 22 | g.37185341A>G | CA411432212 | C1QTNF6 | c.166T>C (p.Cys56Arg) n.3656T>C n.608T>C c.109T>C (p.Cys37Arg) | |
| 22 | g.37185341A>T | CA411432213 | C1QTNF6 | c.166T>A (p.Cys56Ser) n.3656T>A n.608T>A c.109T>A (p.Cys37Ser) | |
| 22 | g.37185342G>A | CA10217008 | C1QTNF6 | c.165C>T (p.Gly55=) n.3655C>T n.607C>T c.108C>T (p.Gly36=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185342G>C | CA514767781 | C1QTNF6 | c.165C>G (p.Gly55=) n.3655C>G n.607C>G c.108C>G (p.Gly36=) | |
| 22 | g.37185342G= | CA2404224273 | C1QTNF6 | c.165C= (p.Gly55=) n.3655C= n.607C= c.108C= (p.Gly36=) | |
| 22 | g.37185342G>T | CA514767780 | C1QTNF6 | c.165C>A (p.Gly55=) n.3655C>A n.607C>A c.108C>A (p.Gly36=) | |
| 22 | g.37185343C>A | CA411432214 | C1QTNF6 | c.164G>T (p.Gly55Val) n.3654G>T n.606G>T c.107G>T (p.Gly36Val) | |
| 22 | g.37185343C= | CA2404224274 | C1QTNF6 | c.164G= (p.Gly55=) n.3654G= n.606G= c.107G= (p.Gly36=) | |
| 22 | g.37185343C>G | CA411432215 | C1QTNF6 | c.164G>C (p.Gly55Ala) n.3654G>C n.606G>C c.107G>C (p.Gly36Ala) | |
| 22 | g.37185343C>T | CA10217009 | C1QTNF6 | c.164G>A (p.Gly55Asp) n.3654G>A n.606G>A c.107G>A (p.Gly36Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185344C>A | CA411432216 | C1QTNF6 | c.163G>T (p.Gly55Cys) n.3653G>T n.605G>T c.106G>T (p.Gly36Cys) | |
| 22 | g.37185344C= | CA2404224275 | C1QTNF6 | c.163G= (p.Gly55=) n.3653G= n.605G= c.106G= (p.Gly36=) | |
| 22 | g.37185344C>G | CA411432218 | C1QTNF6 | c.163G>C (p.Gly55Arg) n.3653G>C n.605G>C c.106G>C (p.Gly36Arg) | |
| 22 | g.37185344C>T | CA411432217 | C1QTNF6 | c.163G>A (p.Gly55Ser) n.3653G>A n.605G>A c.106G>A (p.Gly36Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185345G>A | CA10217010 | C1QTNF6 | c.162C>T (p.Ser54=) n.3652C>T n.604C>T c.105C>T (p.Ser35=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.37185345G>C | CA411432219 | C1QTNF6 | c.162C>G (p.Ser54Arg) n.3652C>G n.604C>G c.105C>G (p.Ser35Arg) | |
| 22 | g.37185345G= | CA2404224276 | C1QTNF6 | c.162C= (p.Ser54=) n.3652C= n.604C= c.105C= (p.Ser35=) | |
| 22 | g.37185345G>T | CA411432220 | C1QTNF6 | c.162C>A (p.Ser54Arg) n.3652C>A n.604C>A c.105C>A (p.Ser35Arg) | dbSNP gnomAD v2 |
| 22 | g.37185346C>A | CA411432221 | C1QTNF6 | c.161G>T (p.Ser54Ile) n.3651G>T n.603G>T c.104G>T (p.Ser35Ile) | |
| 22 | g.37185346C>G | CA411432222 | C1QTNF6 | c.161G>C (p.Ser54Thr) n.3651G>C n.603G>C c.104G>C (p.Ser35Thr) | |
| 22 | g.37185346C>T | CA411432223 | C1QTNF6 | c.161G>A (p.Ser54Asn) n.3651G>A n.603G>A c.104G>A (p.Ser35Asn) | gnomAD v4 |
| 22 | g.37185347T>A | CA411432224 | C1QTNF6 | c.160A>T (p.Ser54Cys) n.3650A>T n.602A>T c.103A>T (p.Ser35Cys) | |
| 22 | g.37185347T>C | CA411432225 | C1QTNF6 | c.160A>G (p.Ser54Gly) n.3650A>G n.602A>G c.103A>G (p.Ser35Gly) | |
| 22 | g.37185347T>G | CA10217011 | C1QTNF6 | c.160A>C (p.Ser54Arg) n.3650A>C n.602A>C c.103A>C (p.Ser35Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185347T= | CA2404224277 | C1QTNF6 | c.160A= (p.Ser54=) n.3650A= n.602A= c.103A= (p.Ser35=) | |
| 22 | g.37185347_37185348insA | CA639393785 | C1QTNF6 | c.159_160insT (p.Ser54Ter) n.3649_3650insT n.601_602insT c.102_103insT (p.Ser35Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185348G>A | CA514767786 | C1QTNF6 | c.159C>T (p.Ala53=) n.3649C>T n.601C>T c.102C>T (p.Ala34=) | |
| 22 | g.37185348G>C | CA514767787 | C1QTNF6 | c.159C>G (p.Ala53=) n.3649C>G n.601C>G c.102C>G (p.Ala34=) | |
| 22 | g.37185348G>T | CA514767788 | C1QTNF6 | c.159C>A (p.Ala53=) n.3649C>A n.601C>A c.102C>A (p.Ala34=) | |
| 22 | g.37185349G>A | CA411432226 | C1QTNF6 | c.158C>T (p.Ala53Val) n.3648C>T n.600C>T c.101C>T (p.Ala34Val) | dbSNP gnomAD v4 |
| 22 | g.37185349G>C | CA411432227 | C1QTNF6 | c.158C>G (p.Ala53Gly) n.3648C>G n.600C>G c.101C>G (p.Ala34Gly) | |
| 22 | g.37185349G= | CA2404224278 | C1QTNF6 | c.158C= (p.Ala53=) n.3648C= n.600C= c.101C= (p.Ala34=) | |
| 22 | g.37185349G>T | CA411432228 | C1QTNF6 | c.158C>A (p.Ala53Asp) n.3648C>A n.600C>A c.101C>A (p.Ala34Asp) | |
| 22 | g.37185350C>A | CA411432231 | C1QTNF6 | c.157G>T (p.Ala53Ser) n.3647G>T n.599G>T c.100G>T (p.Ala34Ser) | gnomAD v4 |
| 22 | g.37185350C= | CA2404224279 | C1QTNF6 | c.157G= (p.Ala53=) n.3647G= n.599G= c.100G= (p.Ala34=) | |
| 22 | g.37185350C>G | CA411432229 | C1QTNF6 | c.157G>C (p.Ala53Pro) n.3647G>C n.599G>C c.100G>C (p.Ala34Pro) | |
| 22 | g.37185350C>T | CA411432230 | C1QTNF6 | c.157G>A (p.Ala53Thr) n.3647G>A n.599G>A c.100G>A (p.Ala34Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185351C>A | CA514767790 | C1QTNF6 | c.156G>T (p.Val52=) n.3646G>T n.598G>T c.99G>T (p.Val33=) | |
| 22 | g.37185351C>G | CA514767791 | C1QTNF6 | c.156G>C (p.Val52=) n.3646G>C n.598G>C c.99G>C (p.Val33=) | |
| 22 | g.37185351C>T | CA514767792 | C1QTNF6 | c.156G>A (p.Val52=) n.3646G>A n.598G>A c.99G>A (p.Val33=) | |
| 22 | g.37185352A= | CA2404224280 | C1QTNF6 | c.155T= (p.Val52=) n.3645T= n.597T= c.98T= (p.Val33=) | |
| 22 | g.37185352A>C | CA411432232 | C1QTNF6 | c.155T>G (p.Val52Gly) n.3645T>G n.597T>G c.98T>G (p.Val33Gly) | dbSNP |
| 22 | g.37185352A>G | CA411432233 | C1QTNF6 | c.155T>C (p.Val52Ala) n.3645T>C n.597T>C c.98T>C (p.Val33Ala) | gnomAD v3 gnomAD v4 |
| 22 | g.37185352A>T | CA411432234 | C1QTNF6 | c.155T>A (p.Val52Glu) n.3645T>A n.597T>A c.98T>A (p.Val33Glu) | |
| 22 | g.37185353C>A | CA411432235 | C1QTNF6 | c.154G>T (p.Val52Leu) n.3644G>T n.596G>T c.97G>T (p.Val33Leu) | |
| 22 | g.37185353C>G | CA411432236 | C1QTNF6 | c.154G>C (p.Val52Leu) n.3644G>C n.596G>C c.97G>C (p.Val33Leu) | COSMIC |
| 22 | g.37185353C>T | CA411432237 | C1QTNF6 | c.154G>A (p.Val52Met) n.3644G>A n.596G>A c.97G>A (p.Val33Met) | dbSNP |
| 22 | g.37185354A>C | CA514767795 | C1QTNF6 | c.153T>G (p.Ala51=) n.3643T>G n.595T>G c.96T>G (p.Ala32=) | |
| 22 | g.37185354A>G | CA514767796 | C1QTNF6 | c.153T>C (p.Ala51=) n.3643T>C n.595T>C c.96T>C (p.Ala32=) | |
| 22 | g.37185354A>T | CA514767797 | C1QTNF6 | c.153T>A (p.Ala51=) n.3643T>A n.595T>A c.96T>A (p.Ala32=) | |
| 22 | g.37185355G>A | CA411432238 | C1QTNF6 | c.152C>T (p.Ala51Val) n.3642C>T n.594C>T c.95C>T (p.Ala32Val) | gnomAD v4 |
| 22 | g.37185355G>C | CA411432239 | C1QTNF6 | c.152C>G (p.Ala51Gly) n.3642C>G n.594C>G c.95C>G (p.Ala32Gly) | |
| 22 | g.37185355G>T | CA411432240 | C1QTNF6 | c.152C>A (p.Ala51Asp) n.3642C>A n.594C>A c.95C>A (p.Ala32Asp) | |
| 22 | g.37185356C>A | CA411432241 | C1QTNF6 | c.151G>T (p.Ala51Ser) n.3641G>T n.593G>T c.94G>T (p.Ala32Ser) | |
| 22 | g.37185356C= | CA2404224281 | C1QTNF6 | c.151G= (p.Ala51=) n.3641G= n.593G= c.94G= (p.Ala32=) | |
| 22 | g.37185356C>G | CA411432242 | C1QTNF6 | c.151G>C (p.Ala51Pro) n.3641G>C n.593G>C c.94G>C (p.Ala32Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185356C>T | CA411432243 | C1QTNF6 | c.151G>A (p.Ala51Thr) n.3641G>A n.593G>A c.94G>A (p.Ala32Thr) | |
| 22 | g.37185358_37185359del | CA2818907149 | C1QTNF6 | c.150_151del (p.Arg50SerfsTer11) n.3640_3641del n.592_593del c.93_94del (p.Arg31SerfsTer11) | |
| 22 | g.37185357T>A | CA411432244 | C1QTNF6 | c.150A>T (p.Arg50Ser) n.3640A>T n.592A>T c.93A>T (p.Arg31Ser) | |
| 22 | g.37185357T>C | CA514767799 | C1QTNF6 | c.150A>G (p.Arg50=) n.3640A>G n.592A>G c.93A>G (p.Arg31=) | |
| 22 | g.37185357T>G | CA411432245 | C1QTNF6 | c.150A>C (p.Arg50Ser) n.3640A>C n.592A>C c.93A>C (p.Arg31Ser) | |
| 22 | g.37185358C>A | CA411432246 | C1QTNF6 | c.149G>T (p.Arg50Ile) n.3639G>T n.591G>T c.92G>T (p.Arg31Ile) | |
| 22 | g.37185358C= | CA2404224282 | C1QTNF6 | c.149G= (p.Arg50=) n.3639G= n.591G= c.92G= (p.Arg31=) | |
| 22 | g.37185358C>G | CA411432247 | C1QTNF6 | c.149G>C (p.Arg50Thr) n.3639G>C n.591G>C c.92G>C (p.Arg31Thr) | |
| 22 | g.37185358C>T | CA411432248 | C1QTNF6 | c.149G>A (p.Arg50Lys) n.3639G>A n.591G>A c.92G>A (p.Arg31Lys) | dbSNP |
| 22 | g.37185359T>A | CA411432249 | C1QTNF6 | c.148A>T (p.Arg50Ter) n.3638A>T n.590A>T c.91A>T (p.Arg31Ter) | |
| 22 | g.37185359T>C | CA411432250 | C1QTNF6 | c.148A>G (p.Arg50Gly) n.3638A>G n.590A>G c.91A>G (p.Arg31Gly) | |
| 22 | g.37185359T>G | CA514767804 | C1QTNF6 | c.148A>C (p.Arg50=) n.3638A>C n.590A>C c.91A>C (p.Arg31=) | |
| 22 | g.37185360G>A | CA514767805 | C1QTNF6 | c.147C>T (p.Asp49=) n.3637C>T n.589C>T c.90C>T (p.Asp30=) | gnomAD v4 |
| 22 | g.37185360G>C | CA411432251 | C1QTNF6 | c.147C>G (p.Asp49Glu) n.3637C>G n.589C>G c.90C>G (p.Asp30Glu) | |
| 22 | g.37185360G>T | CA411432252 | C1QTNF6 | c.147C>A (p.Asp49Glu) n.3637C>A n.589C>A c.90C>A (p.Asp30Glu) | gnomAD v4 |
| 22 | g.37185361T>A | CA411432253 | C1QTNF6 | c.146A>T (p.Asp49Val) n.3636A>T n.588A>T c.89A>T (p.Asp30Val) | |
| 22 | g.37185361T>C | CA411432254 | C1QTNF6 | c.146A>G (p.Asp49Gly) n.3636A>G n.588A>G c.89A>G (p.Asp30Gly) | gnomAD v4 |
| 22 | g.37185361T>G | CA411432255 | C1QTNF6 | c.146A>C (p.Asp49Ala) n.3636A>C n.588A>C c.89A>C (p.Asp30Ala) | |
| 22 | g.37185362C>A | CA411432256 | C1QTNF6 | c.145G>T (p.Asp49Tyr) n.3635G>T n.587G>T c.88G>T (p.Asp30Tyr) | |
| 22 | g.37185362C>G | CA411432257 | C1QTNF6 | c.145G>C (p.Asp49His) n.3635G>C n.587G>C c.88G>C (p.Asp30His) | |
| 22 | g.37185362C>T | CA411432258 | C1QTNF6 | c.145G>A (p.Asp49Asn) n.3635G>A n.587G>A c.88G>A (p.Asp30Asn) | |
| 22 | g.37185363A>C | CA411432260 | C1QTNF6 | c.144T>G (p.Phe48Leu) n.3634T>G n.586T>G c.87T>G (p.Phe29Leu) | |
| 22 | g.37185363A>G | CA514767808 | C1QTNF6 | c.144T>C (p.Phe48=) n.3634T>C n.586T>C c.87T>C (p.Phe29=) | |
| 22 | g.37185363A>T | CA411432259 | C1QTNF6 | c.144T>A (p.Phe48Leu) n.3634T>A n.586T>A c.87T>A (p.Phe29Leu) | |
| 22 | g.37185364A>C | CA411432261 | C1QTNF6 | c.143T>G (p.Phe48Cys) n.3633T>G n.585T>G c.86T>G (p.Phe29Cys) | |
| 22 | g.37185364A>G | CA411432262 | C1QTNF6 | c.143T>C (p.Phe48Ser) n.3633T>C n.585T>C c.86T>C (p.Phe29Ser) | |
| 22 | g.37185364A>T | CA411432263 | C1QTNF6 | c.143T>A (p.Phe48Tyr) n.3633T>A n.585T>A c.86T>A (p.Phe29Tyr) | |
| 22 | g.37185365A>C | CA411432264 | C1QTNF6 | c.142T>G (p.Phe48Val) n.3632T>G n.584T>G c.85T>G (p.Phe29Val) | |
| 22 | g.37185365A>G | CA411432265 | C1QTNF6 | c.142T>C (p.Phe48Leu) n.3632T>C n.584T>C c.85T>C (p.Phe29Leu) | |
| 22 | g.37185365A>T | CA411432266 | C1QTNF6 | c.142T>A (p.Phe48Ile) n.3632T>A n.584T>A c.85T>A (p.Phe29Ile) | |
| 22 | g.37185366G>A | CA514767811 | C1QTNF6 | c.141C>T (p.Thr47=) n.3631C>T n.583C>T c.84C>T (p.Thr28=) | |
| 22 | g.37185366G>C | CA324042681 | C1QTNF6 | c.141C>G (p.Thr47=) n.3631C>G n.583C>G c.84C>G (p.Thr28=) | dbSNP |
| 22 | g.37185366G= | CA2404224283 | C1QTNF6 | c.141C= (p.Thr47=) n.3631C= n.583C= c.84C= (p.Thr28=) | |
| 22 | g.37185366G>T | CA514767812 | C1QTNF6 | c.141C>A (p.Thr47=) n.3631C>A n.583C>A c.84C>A (p.Thr28=) | dbSNP |
| 22 | g.37185367G>A | CA411432267 | C1QTNF6 | c.140C>T (p.Thr47Ile) n.3630C>T n.582C>T c.83C>T (p.Thr28Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185367G>C | CA411432268 | C1QTNF6 | c.140C>G (p.Thr47Ser) n.3630C>G n.582C>G c.83C>G (p.Thr28Ser) | |
| 22 | g.37185367G= | CA2404224284 | C1QTNF6 | c.140C= (p.Thr47=) n.3630C= n.582C= c.83C= (p.Thr28=) | |
| 22 | g.37185367G>T | CA411432269 | C1QTNF6 | c.140C>A (p.Thr47Asn) n.3630C>A n.582C>A c.83C>A (p.Thr28Asn) | |
| 22 | g.37185368T>A | CA411432270 | C1QTNF6 | c.139A>T (p.Thr47Ser) n.3629A>T n.581A>T c.82A>T (p.Thr28Ser) | |
| 22 | g.37185368T>C | CA411432271 | C1QTNF6 | c.139A>G (p.Thr47Ala) n.3629A>G n.581A>G c.82A>G (p.Thr28Ala) | |
| 22 | g.37185368T>G | CA411432272 | C1QTNF6 | c.139A>C (p.Thr47Pro) n.3629A>C n.581A>C c.82A>C (p.Thr28Pro) | gnomAD v4 |
| 22 | g.37185369G>A | CA514767814 | C1QTNF6 | c.138C>T (p.Leu46=) n.3628C>T n.580C>T c.81C>T (p.Leu27=) | dbSNP |
| 22 | g.37185369G>C | CA514767815 | C1QTNF6 | c.138C>G (p.Leu46=) n.3628C>G n.580C>G c.81C>G (p.Leu27=) | |
| 22 | g.37185369G= | CA2404224285 | C1QTNF6 | c.138C= (p.Leu46=) n.3628C= n.580C= c.81C= (p.Leu27=) | |
| 22 | g.37185369G>T | CA514767816 | C1QTNF6 | c.138C>A (p.Leu46=) n.3628C>A n.580C>A c.81C>A (p.Leu27=) | |
| 22 | g.37185370A>C | CA411432275 | C1QTNF6 | c.137T>G (p.Leu46Arg) n.3627T>G n.579T>G c.80T>G (p.Leu27Arg) | |
| 22 | g.37185370A>G | CA411432273 | C1QTNF6 | c.137T>C (p.Leu46Pro) n.3627T>C n.579T>C c.80T>C (p.Leu27Pro) | |
| 22 | g.37185370A>T | CA411432274 | C1QTNF6 | c.137T>A (p.Leu46His) n.3627T>A n.579T>A c.80T>A (p.Leu27His) | gnomAD v4 |
| 22 | g.37185371G>A | CA411432276 | C1QTNF6 | c.136C>T (p.Leu46Phe) n.3626C>T n.578C>T c.79C>T (p.Leu27Phe) | |
| 22 | g.37185371G>C | CA411432278 | C1QTNF6 | c.136C>G (p.Leu46Val) n.3626C>G n.578C>G c.79C>G (p.Leu27Val) | |
| 22 | g.37185371G>T | CA411432277 | C1QTNF6 | c.136C>A (p.Leu46Ile) n.3626C>A n.578C>A c.79C>A (p.Leu27Ile) | |
| 22 | g.37185372C>A | CA411432279 | C1QTNF6 | c.135G>T (p.Glu45Asp) n.3625G>T n.577G>T c.78G>T (p.Glu26Asp) | |
| 22 | g.37185372C>G | CA411432280 | C1QTNF6 | c.135G>C (p.Glu45Asp) n.3625G>C n.577G>C c.78G>C (p.Glu26Asp) | |
| 22 | g.37185372C>T | CA514767820 | C1QTNF6 | c.135G>A (p.Glu45=) n.3625G>A n.577G>A c.78G>A (p.Glu26=) | |
| 22 | g.37185373T>A | CA411432281 | C1QTNF6 | c.134A>T (p.Glu45Val) n.3624A>T n.576A>T c.77A>T (p.Glu26Val) | |
| 22 | g.37185373T>C | CA411432282 | C1QTNF6 | c.134A>G (p.Glu45Gly) n.3624A>G n.576A>G c.77A>G (p.Glu26Gly) | |
| 22 | g.37185373T>G | CA411432283 | C1QTNF6 | c.134A>C (p.Glu45Ala) n.3624A>C n.576A>C c.77A>C (p.Glu26Ala) | |
| 22 | g.37185374C>A | CA411432284 | C1QTNF6 | c.133G>T (p.Glu45Ter) n.3623G>T n.575G>T c.76G>T (p.Glu26Ter) | |
| 22 | g.37185374C>G | CA411432285 | C1QTNF6 | c.133G>C (p.Glu45Gln) n.3623G>C n.575G>C c.76G>C (p.Glu26Gln) | |
| 22 | g.37185374C>T | CA411432286 | C1QTNF6 | c.133G>A (p.Glu45Lys) n.3623G>A n.575G>A c.76G>A (p.Glu26Lys) | |
| 22 | g.37185375C>A | CA514767826 | C1QTNF6 | c.132G>T (p.Val44=) n.3622G>T n.574G>T c.75G>T (p.Val25=) | |
| 22 | g.37185375C>G | CA514767824 | C1QTNF6 | c.132G>C (p.Val44=) n.3622G>C n.574G>C c.75G>C (p.Val25=) | |
| 22 | g.37185375C>T | CA514767825 | C1QTNF6 | c.132G>A (p.Val44=) n.3622G>A n.574G>A c.75G>A (p.Val25=) | |
| 22 | g.37185376A= | CA2404224286 | C1QTNF6 | c.131T= (p.Val44=) n.3621T= n.573T= c.74T= (p.Val25=) | |
| 22 | g.37185376A>C | CA411432287 | C1QTNF6 | c.131T>G (p.Val44Gly) n.3621T>G n.573T>G c.74T>G (p.Val25Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185376A>G | CA411432288 | C1QTNF6 | c.131T>C (p.Val44Ala) n.3621T>C n.573T>C c.74T>C (p.Val25Ala) | |
| 22 | g.37185376A>T | CA411432289 | C1QTNF6 | c.131T>A (p.Val44Glu) n.3621T>A n.573T>A c.74T>A (p.Val25Glu) | |
| 22 | g.37185377C>A | CA411432292 | C1QTNF6 | c.130G>T (p.Val44Leu) n.3620G>T n.572G>T c.73G>T (p.Val25Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185377C= | CA2404224287 | C1QTNF6 | c.130G= (p.Val44=) n.3620G= n.572G= c.73G= (p.Val25=) | |
| 22 | g.37185377C>G | CA411432291 | C1QTNF6 | c.130G>C (p.Val44Leu) n.3620G>C n.572G>C c.73G>C (p.Val25Leu) | |
| 22 | g.37185377C>T | CA411432290 | C1QTNF6 | c.130G>A (p.Val44Met) n.3620G>A n.572G>A c.73G>A (p.Val25Met) | |
| 22 | g.37185378C>A | CA411432293 | C1QTNF6 | c.129G>T (p.Met43Ile) n.3619G>T n.571G>T c.72G>T (p.Met24Ile) | |
| 22 | g.37185378C>G | CA411432294 | C1QTNF6 | c.129G>C (p.Met43Ile) n.3619G>C n.571G>C c.72G>C (p.Met24Ile) | |
| 22 | g.37185378C>T | CA411432295 | C1QTNF6 | c.129G>A (p.Met43Ile) n.3619G>A n.571G>A c.72G>A (p.Met24Ile) | |
| 22 | g.37185379A>C | CA411432296 | C1QTNF6 | c.128T>G (p.Met43Arg) n.3618T>G n.570T>G c.71T>G (p.Met24Arg) | |
| 22 | g.37185379A>G | CA411432297 | C1QTNF6 | c.128T>C (p.Met43Thr) n.3618T>C n.570T>C c.71T>C (p.Met24Thr) | gnomAD v4 |
| 22 | g.37185379A>T | CA411432298 | C1QTNF6 | c.128T>A (p.Met43Lys) n.3618T>A n.570T>A c.71T>A (p.Met24Lys) | |
| 22 | g.37185380T>A | CA411432299 | C1QTNF6 | c.127A>T (p.Met43Leu) n.3617A>T n.569A>T c.70A>T (p.Met24Leu) | |
| 22 | g.37185380T>C | CA10217012 | C1QTNF6 | c.127A>G (p.Met43Val) n.3617A>G n.569A>G c.70A>G (p.Met24Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185380T>G | CA411432300 | C1QTNF6 | c.127A>C (p.Met43Leu) n.3617A>C n.569A>C c.70A>C (p.Met24Leu) | gnomAD v4 |
| 22 | g.37185380T= | CA2404224288 | C1QTNF6 | c.127A= (p.Met43=) n.3617A= n.569A= c.70A= (p.Met24=) | |
| 22 | g.37185381A>C | CA514767831 | C1QTNF6 | c.126T>G (p.Pro42=) n.3616T>G n.568T>G c.69T>G (p.Pro23=) | |
| 22 | g.37185381A>G | CA514767834 | C1QTNF6 | c.126T>C (p.Pro42=) n.3616T>C n.568T>C c.69T>C (p.Pro23=) | |
| 22 | g.37185381A>T | CA514767833 | C1QTNF6 | c.126T>A (p.Pro42=) n.3616T>A n.568T>A c.69T>A (p.Pro23=) | |
| 22 | g.37185382G>A | CA411432301 | C1QTNF6 | c.125C>T (p.Pro42Leu) n.3615C>T n.567C>T c.68C>T (p.Pro23Leu) | |
| 22 | g.37185382G>C | CA10217013 | C1QTNF6 | c.125C>G (p.Pro42Arg) n.3615C>G n.567C>G c.68C>G (p.Pro23Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185382G= | CA2404224289 | C1QTNF6 | c.125C= (p.Pro42=) n.3615C= n.567C= c.68C= (p.Pro23=) | |
| 22 | g.37185382G>T | CA10217014 | C1QTNF6 | c.125C>A (p.Pro42His) n.3615C>A n.567C>A c.68C>A (p.Pro23His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185383G>A | CA411432302 | C1QTNF6 | c.124C>T (p.Pro42Ser) n.3614C>T n.566C>T c.67C>T (p.Pro23Ser) | gnomAD v4 |
| 22 | g.37185383G>C | CA10217015 | C1QTNF6 | c.124C>G (p.Pro42Ala) n.3614C>G n.566C>G c.67C>G (p.Pro23Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185383G= | CA2404224290 | C1QTNF6 | c.124C= (p.Pro42=) n.3614C= n.566C= c.67C= (p.Pro23=) | |
| 22 | g.37185383G>T | CA10217016 | C1QTNF6 | c.124C>A (p.Pro42Thr) n.3614C>A n.566C>A c.67C>A (p.Pro23Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185384G>A | CA514767838 | C1QTNF6 | c.123C>T (p.Ile41=) n.3613C>T n.565C>T c.66C>T (p.Ile22=) | COSMIC |
| 22 | g.37185384G>C | CA411432303 | C1QTNF6 | c.123C>G (p.Ile41Met) n.3613C>G n.565C>G c.66C>G (p.Ile22Met) | |
| 22 | g.37185384G>T | CA514767839 | C1QTNF6 | c.123C>A (p.Ile41=) n.3613C>A n.565C>A c.66C>A (p.Ile22=) | |
| 22 | g.37185385A>C | CA411432304 | C1QTNF6 | c.122T>G (p.Ile41Ser) n.3612T>G n.564T>G c.65T>G (p.Ile22Ser) | gnomAD v4 |
| 22 | g.37185385A>G | CA411432305 | C1QTNF6 | c.122T>C (p.Ile41Thr) n.3612T>C n.564T>C c.65T>C (p.Ile22Thr) | |
| 22 | g.37185385A>T | CA411432306 | C1QTNF6 | c.122T>A (p.Ile41Asn) n.3612T>A n.564T>A c.65T>A (p.Ile22Asn) | |
| 22 | g.37185386del | CA2656502112 | C1QTNF6 | c.121del (p.Ile41SerfsTer?) n.3611del n.563del c.64del (p.Ile22SerfsTer?) | gnomAD v4 |
| 22 | g.37185386T>A | CA411432307 | C1QTNF6 | c.121A>T (p.Ile41Phe) n.3611A>T n.563A>T c.64A>T (p.Ile22Phe) | |
| 22 | g.37185386T>C | CA411432308 | C1QTNF6 | c.121A>G (p.Ile41Val) n.3611A>G n.563A>G c.64A>G (p.Ile22Val) | |
| 22 | g.37185386T>G | CA411432309 | C1QTNF6 | c.121A>C (p.Ile41Leu) n.3611A>C n.563A>C c.64A>C (p.Ile22Leu) | |
| 22 | g.37185387C>A | CA411432310 | C1QTNF6 | c.120G>T (p.Glu40Asp) n.3610G>T n.562G>T c.63G>T (p.Glu21Asp) | |
| 22 | g.37185387C>G | CA411432311 | C1QTNF6 | c.120G>C (p.Glu40Asp) n.3610G>C n.562G>C c.63G>C (p.Glu21Asp) | |
| 22 | g.37185387C>T | CA514767843 | C1QTNF6 | c.120G>A (p.Glu40=) n.3610G>A n.562G>A c.63G>A (p.Glu21=) | |
| 22 | g.37185388T>A | CA411432312 | C1QTNF6 | c.119A>T (p.Glu40Val) n.3609A>T n.561A>T c.62A>T (p.Glu21Val) | |
| 22 | g.37185388T>C | CA411432313 | C1QTNF6 | c.119A>G (p.Glu40Gly) n.3609A>G n.561A>G c.62A>G (p.Glu21Gly) | |
| 22 | g.37185388T>G | CA411432314 | C1QTNF6 | c.119A>C (p.Glu40Ala) n.3609A>C n.561A>C c.62A>C (p.Glu21Ala) | gnomAD v4 |
| 22 | g.37185389C>A | CA411432315 | C1QTNF6 | c.118G>T (p.Glu40Ter) n.3608G>T n.560G>T c.61G>T (p.Glu21Ter) | |
| 22 | g.37185389C>G | CA411432316 | C1QTNF6 | c.118G>C (p.Glu40Gln) n.3608G>C n.560G>C c.61G>C (p.Glu21Gln) | |
| 22 | g.37185389C>T | CA411432317 | C1QTNF6 | c.118G>A (p.Glu40Lys) n.3608G>A n.560G>A c.61G>A (p.Glu21Lys) | |
| 22 | g.37185389dup | CA2656502113 | C1QTNF6 | c.118dup (p.Glu40GlyfsTer10) n.3608dup n.560dup c.61dup (p.Glu21GlyfsTer10) | gnomAD v4 |
| 22 | g.37185390A>C | CA411432318 | C1QTNF6 | c.117T>G (p.Cys39Trp) n.3607T>G n.559T>G c.60T>G (p.Cys20Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185390A>G | CA514767846 | C1QTNF6 | c.117T>C (p.Cys39=) n.3607T>C n.559T>C c.60T>C (p.Cys20=) | |
| 22 | g.37185390A>T | CA411432319 | C1QTNF6 | c.117T>A (p.Cys39Ter) n.3607T>A n.559T>A c.60T>A (p.Cys20Ter) | |
| 22 | g.37185391C>A | CA411432320 | C1QTNF6 | c.116G>T (p.Cys39Phe) n.3606G>T n.558G>T c.59G>T (p.Cys20Phe) | |
| 22 | g.37185391C= | CA2404224291 | C1QTNF6 | c.116G= (p.Cys39=) n.3606G= n.558G= c.59G= (p.Cys20=) | |
| 22 | g.37185391C>G | CA411432321 | C1QTNF6 | c.116G>C (p.Cys39Ser) n.3606G>C n.558G>C c.59G>C (p.Cys20Ser) | |
| 22 | g.37185391C>T | CA411432322 | C1QTNF6 | c.116G>A (p.Cys39Tyr) n.3606G>A n.558G>A c.59G>A (p.Cys20Tyr) | dbSNP |