| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 22 | g.37185392A= | CA2404224292 | C1QTNF6 | c.115T= (p.Cys39=) n.3605T= n.557T= c.58T= (p.Cys20=) | |
| 22 | g.37185392A>C | CA411432323 | C1QTNF6 | c.115T>G (p.Cys39Gly) n.3605T>G n.557T>G c.58T>G (p.Cys20Gly) | |
| 22 | g.37185392A>G | CA324042724 | C1QTNF6 | c.115T>C (p.Cys39Arg) n.3605T>C n.557T>C c.58T>C (p.Cys20Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185392A>T | CA411432324 | C1QTNF6 | c.115T>A (p.Cys39Ser) n.3605T>A n.557T>A c.58T>A (p.Cys20Ser) | |
| 22 | g.37185393C>A | CA10217017 | C1QTNF6 | c.114G>T (p.Met38Ile) n.3604G>T n.556G>T c.57G>T (p.Met19Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185393C= | CA2404224293 | C1QTNF6 | c.114G= (p.Met38=) n.3604G= n.556G= c.57G= (p.Met19=) | |
| 22 | g.37185393C>G | CA411432325 | C1QTNF6 | c.114G>C (p.Met38Ile) n.3604G>C n.556G>C c.57G>C (p.Met19Ile) | |
| 22 | g.37185393C>T | CA411432326 | C1QTNF6 | c.114G>A (p.Met38Ile) n.3604G>A n.556G>A c.57G>A (p.Met19Ile) | gnomAD v4 |
| 22 | g.37185394A= | CA2404224294 | C1QTNF6 | c.113T= (p.Met38=) n.3603T= n.555T= c.56T= (p.Met19=) | |
| 22 | g.37185394A>C | CA411432327 | C1QTNF6 | c.113T>G (p.Met38Arg) n.3603T>G n.555T>G c.56T>G (p.Met19Arg) | |
| 22 | g.37185394A>G | CA411432328 | C1QTNF6 | c.113T>C (p.Met38Thr) n.3603T>C n.555T>C c.56T>C (p.Met19Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185394A>T | CA411432329 | C1QTNF6 | c.113T>A (p.Met38Lys) n.3603T>A n.555T>A c.56T>A (p.Met19Lys) | |
| 22 | g.37185395T>A | CA411432332 | C1QTNF6 | c.112A>T (p.Met38Leu) n.3602A>T n.554A>T c.55A>T (p.Met19Leu) | |
| 22 | g.37185395T>C | CA411432331 | C1QTNF6 | c.112A>G (p.Met38Val) n.3602A>G n.554A>G c.55A>G (p.Met19Val) | |
| 22 | g.37185395T>G | CA411432330 | C1QTNF6 | c.112A>C (p.Met38Leu) n.3602A>C n.554A>C c.55A>C (p.Met19Leu) | |
| 22 | g.37185395T= | CA2404224295 | C1QTNF6 | c.112A= (p.Met38=) n.3602A= n.554A= c.55A= (p.Met19=) | |
| 22 | g.37185396C>A | CA514767854 | C1QTNF6 | c.111G>T (p.Leu37=) n.3601G>T n.553G>T c.54G>T (p.Leu18=) | |
| 22 | g.37185396C= | CA2404224297 | C1QTNF6 | c.111G= (p.Leu37=) n.3601G= n.553G= c.54G= (p.Leu18=) | |
| 22 | g.37185396C>G | CA514767850 | C1QTNF6 | c.111G>C (p.Leu37=) n.3601G>C n.553G>C c.54G>C (p.Leu18=) | |
| 22 | g.37185396C>T | CA514767852 | C1QTNF6 | c.111G>A (p.Leu37=) n.3601G>A n.553G>A c.54G>A (p.Leu18=) | dbSNP |
| 22 | g.37185402_37185413dup | CA2404224296 | C1QTNF6 | c.100_111dup (p.Leu37_Met38insLeuPheLeuLeu) n.3590_3601dup n.542_553dup c.43_54dup (p.Leu18_Met19insLeuPheLeuLeu) | dbSNP |
| 22 | g.37185402_37185413del | CA2577706631 | C1QTNF6 | c.100_111del (p.Leu34_Leu37del) n.3590_3601del n.542_553del c.43_54del (p.Leu15_Leu18del) | |
| 22 | g.37185397A>C | CA411432333 | C1QTNF6 | c.110T>G (p.Leu37Arg) n.3600T>G n.552T>G c.53T>G (p.Leu18Arg) | |
| 22 | g.37185397A>G | CA411432335 | C1QTNF6 | c.110T>C (p.Leu37Pro) n.3600T>C n.552T>C c.53T>C (p.Leu18Pro) | |
| 22 | g.37185397A>T | CA411432334 | C1QTNF6 | c.110T>A (p.Leu37Gln) n.3600T>A n.552T>A c.53T>A (p.Leu18Gln) | |
| 22 | g.37185398G>A | CA514767855 | C1QTNF6 | c.109C>T (p.Leu37=) n.3599C>T n.551C>T c.52C>T (p.Leu18=) | COSMIC |
| 22 | g.37185398G>C | CA411432336 | C1QTNF6 | c.109C>G (p.Leu37Val) n.3599C>G n.551C>G c.52C>G (p.Leu18Val) | |
| 22 | g.37185398G>T | CA411432337 | C1QTNF6 | c.109C>A (p.Leu37Met) n.3599C>A n.551C>A c.52C>A (p.Leu18Met) | |
| 22 | g.37185399G>A | CA10217018 | C1QTNF6 | c.108C>T (p.Leu36=) n.3598C>T n.550C>T c.51C>T (p.Leu17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185399G>C | CA514767857 | C1QTNF6 | c.108C>G (p.Leu36=) n.3598C>G n.550C>G c.51C>G (p.Leu17=) | |
| 22 | g.37185399G= | CA2404224298 | C1QTNF6 | c.108C= (p.Leu36=) n.3598C= n.550C= c.51C= (p.Leu17=) | |
| 22 | g.37185399G>T | CA514767859 | C1QTNF6 | c.108C>A (p.Leu36=) n.3598C>A n.550C>A c.51C>A (p.Leu17=) | |
| 22 | g.37185400A>C | CA411432338 | C1QTNF6 | c.107T>G (p.Leu36Arg) n.3597T>G n.549T>G c.50T>G (p.Leu17Arg) | |
| 22 | g.37185400A>G | CA411432339 | C1QTNF6 | c.107T>C (p.Leu36Pro) n.3597T>C n.549T>C c.50T>C (p.Leu17Pro) | |
| 22 | g.37185400A>T | CA411432340 | C1QTNF6 | c.107T>A (p.Leu36His) n.3597T>A n.549T>A c.50T>A (p.Leu17His) | |
| 22 | g.37185401G>A | CA411432341 | C1QTNF6 | c.106C>T (p.Leu36Phe) n.3596C>T n.548C>T c.49C>T (p.Leu17Phe) | |
| 22 | g.37185401G>C | CA10217019 | C1QTNF6 | c.106C>G (p.Leu36Val) n.3596C>G n.548C>G c.49C>G (p.Leu17Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185401G= | CA2404224299 | C1QTNF6 | c.106C= (p.Leu36=) n.3596C= n.548C= c.49C= (p.Leu17=) | |
| 22 | g.37185401G>T | CA411432342 | C1QTNF6 | c.106C>A (p.Leu36Ile) n.3596C>A n.548C>A c.49C>A (p.Leu17Ile) | |
| 22 | g.37185402A>C | CA411432343 | C1QTNF6 | c.105T>G (p.Phe35Leu) n.3595T>G n.547T>G c.48T>G (p.Phe16Leu) | |
| 22 | g.37185402A>G | CA514767863 | C1QTNF6 | c.105T>C (p.Phe35=) n.3595T>C n.547T>C c.48T>C (p.Phe16=) | |
| 22 | g.37185402A>T | CA411432344 | C1QTNF6 | c.105T>A (p.Phe35Leu) n.3595T>A n.547T>A c.48T>A (p.Phe16Leu) | |
| 22 | g.37185403A>C | CA411432347 | C1QTNF6 | c.104T>G (p.Phe35Cys) n.3594T>G n.546T>G c.47T>G (p.Phe16Cys) | |
| 22 | g.37185403A>G | CA411432346 | C1QTNF6 | c.104T>C (p.Phe35Ser) n.3594T>C n.546T>C c.47T>C (p.Phe16Ser) | |
| 22 | g.37185403A>T | CA411432345 | C1QTNF6 | c.104T>A (p.Phe35Tyr) n.3594T>A n.546T>A c.47T>A (p.Phe16Tyr) | |
| 22 | g.37185404A>C | CA411432348 | C1QTNF6 | c.103T>G (p.Phe35Val) n.3593T>G n.545T>G c.46T>G (p.Phe16Val) | |
| 22 | g.37185404A>G | CA411432349 | C1QTNF6 | c.103T>C (p.Phe35Leu) n.3593T>C n.545T>C c.46T>C (p.Phe16Leu) | |
| 22 | g.37185404A>T | CA411432350 | C1QTNF6 | c.103T>A (p.Phe35Ile) n.3593T>A n.545T>A c.46T>A (p.Phe16Ile) | |
| 22 | g.37185405G>A | CA514767866 | C1QTNF6 | c.102C>T (p.Leu34=) n.3592C>T n.544C>T c.45C>T (p.Leu15=) | |
| 22 | g.37185405G>C | CA514767868 | C1QTNF6 | c.102C>G (p.Leu34=) n.3592C>G n.544C>G c.45C>G (p.Leu15=) | gnomAD v4 |
| 22 | g.37185405G>T | CA514767870 | C1QTNF6 | c.102C>A (p.Leu34=) n.3592C>A n.544C>A c.45C>A (p.Leu15=) | |
| 22 | g.37185406A>C | CA411432351 | C1QTNF6 | c.101T>G (p.Leu34Arg) n.3591T>G n.543T>G c.44T>G (p.Leu15Arg) | |
| 22 | g.37185406A>G | CA411432352 | C1QTNF6 | c.101T>C (p.Leu34Pro) n.3591T>C n.543T>C c.44T>C (p.Leu15Pro) | |
| 22 | g.37185406A>T | CA411432353 | C1QTNF6 | c.101T>A (p.Leu34His) n.3591T>A n.543T>A c.44T>A (p.Leu15His) | |
| 22 | g.37185407G>A | CA411432354 | C1QTNF6 | c.100C>T (p.Leu34Phe) n.3590C>T n.542C>T c.43C>T (p.Leu15Phe) | gnomAD v4 |
| 22 | g.37185407G>C | CA411432355 | C1QTNF6 | c.100C>G (p.Leu34Val) n.3590C>G n.542C>G c.43C>G (p.Leu15Val) | |
| 22 | g.37185407G>T | CA411432356 | C1QTNF6 | c.100C>A (p.Leu34Ile) n.3590C>A n.542C>A c.43C>A (p.Leu15Ile) | |
| 22 | g.37185408C>A | CA514767873 | C1QTNF6 | c.99G>T (p.Leu33=) n.3589G>T n.541G>T c.42G>T (p.Leu14=) | gnomAD v4 |
| 22 | g.37185408C= | CA2404224300 | C1QTNF6 | c.99G= (p.Leu33=) n.3589G= n.541G= c.42G= (p.Leu14=) | |
| 22 | g.37185408C>G | CA514767874 | C1QTNF6 | c.99G>C (p.Leu33=) n.3589G>C n.541G>C c.42G>C (p.Leu14=) | dbSNP gnomAD v4 |
| 22 | g.37185408C>T | CA514767876 | C1QTNF6 | c.99G>A (p.Leu33=) n.3589G>A n.541G>A c.42G>A (p.Leu14=) | gnomAD v4 |
| 22 | g.37185409A= | CA2404224301 | C1QTNF6 | c.98T= (p.Leu33=) n.3588T= n.540T= c.41T= (p.Leu14=) | |
| 22 | g.37185409A>C | CA411432357 | C1QTNF6 | c.98T>G (p.Leu33Arg) n.3588T>G n.540T>G c.41T>G (p.Leu14Arg) | |
| 22 | g.37185409A>G | CA411432358 | C1QTNF6 | c.98T>C (p.Leu33Pro) n.3588T>C n.540T>C c.41T>C (p.Leu14Pro) | |
| 22 | g.37185409A>T | CA411432359 | C1QTNF6 | c.98T>A (p.Leu33Gln) n.3588T>A n.540T>A c.41T>A (p.Leu14Gln) | |
| 22 | g.37185410G>A | CA514767877 | C1QTNF6 | c.97C>T (p.Leu33=) n.3587C>T n.539C>T c.40C>T (p.Leu14=) | |
| 22 | g.37185410G>C | CA411432361 | C1QTNF6 | c.97C>G (p.Leu33Val) n.3587C>G n.539C>G c.40C>G (p.Leu14Val) | |
| 22 | g.37185410G>T | CA411432360 | C1QTNF6 | c.97C>A (p.Leu33Met) n.3587C>A n.539C>A c.40C>A (p.Leu14Met) | gnomAD v4 |
| 22 | g.37185413_37185429dup | CA639393786 | C1QTNF6 | c.81_97dup (p.Leu33ProfsTer11) n.3571_3587dup n.523_539dup c.24_40dup (p.Leu14ProfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185411G>A | CA514767878 | C1QTNF6 | c.96C>T (p.Leu32=) n.3586C>T n.538C>T c.39C>T (p.Leu13=) | |
| 22 | g.37185411G>C | CA514767879 | C1QTNF6 | c.96C>G (p.Leu32=) n.3586C>G n.538C>G c.39C>G (p.Leu13=) | gnomAD v4 |
| 22 | g.37185411G>T | CA514767881 | C1QTNF6 | c.96C>A (p.Leu32=) n.3586C>A n.538C>A c.39C>A (p.Leu13=) | |
| 22 | g.37185412A= | CA2404224302 | C1QTNF6 | c.95T= (p.Leu32=) n.3585T= n.537T= c.38T= (p.Leu13=) | |
| 22 | g.37185412A>C | CA411432362 | C1QTNF6 | c.95T>G (p.Leu32Arg) n.3585T>G n.537T>G c.38T>G (p.Leu13Arg) | |
| 22 | g.37185412A>G | CA10217020 | C1QTNF6 | c.95T>C (p.Leu32Pro) n.3585T>C n.537T>C c.38T>C (p.Leu13Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185412A>T | CA411432363 | C1QTNF6 | c.95T>A (p.Leu32His) n.3585T>A n.537T>A c.38T>A (p.Leu13His) | |
| 22 | g.37185413G>A | CA411432364 | C1QTNF6 | c.94C>T (p.Leu32Phe) n.3584C>T n.536C>T c.37C>T (p.Leu13Phe) | dbSNP |
| 22 | g.37185413G>C | CA411432365 | C1QTNF6 | c.94C>G (p.Leu32Val) n.3584C>G n.536C>G c.37C>G (p.Leu13Val) | |
| 22 | g.37185413G= | CA2404224303 | C1QTNF6 | c.94C= (p.Leu32=) n.3584C= n.536C= c.37C= (p.Leu13=) | |
| 22 | g.37185413G>T | CA411432366 | C1QTNF6 | c.94C>A (p.Leu32Ile) n.3584C>A n.536C>A c.37C>A (p.Leu13Ile) | |
| 22 | g.37185414C>A | CA514767883 | C1QTNF6 | c.93G>T (p.Ala31=) n.3583G>T n.535G>T c.36G>T (p.Ala12=) | gnomAD v4 |
| 22 | g.37185414C= | CA2404224304 | C1QTNF6 | c.93G= (p.Ala31=) n.3583G= n.535G= c.36G= (p.Ala12=) | |
| 22 | g.37185414C>G | CA514767886 | C1QTNF6 | c.93G>C (p.Ala31=) n.3583G>C n.535G>C c.36G>C (p.Ala12=) | |
| 22 | g.37185414C>T | CA10217021 | C1QTNF6 | c.93G>A (p.Ala31=) n.3583G>A n.535G>A c.36G>A (p.Ala12=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185415G>A | CA10217022 | C1QTNF6 | c.92C>T (p.Ala31Val) n.3582C>T n.534C>T c.35C>T (p.Ala12Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185415G>C | CA411432368 | C1QTNF6 | c.92C>G (p.Ala31Gly) n.3582C>G n.534C>G c.35C>G (p.Ala12Gly) | |
| 22 | g.37185415G= | CA2404224305 | C1QTNF6 | c.92C= (p.Ala31=) n.3582C= n.534C= c.35C= (p.Ala12=) | |
| 22 | g.37185415G>T | CA411432367 | C1QTNF6 | c.92C>A (p.Ala31Glu) n.3582C>A n.534C>A c.35C>A (p.Ala12Glu) | |
| 22 | g.37185416C>A | CA411432369 | C1QTNF6 | c.91G>T (p.Ala31Ser) n.3581G>T n.533G>T c.34G>T (p.Ala12Ser) | |
| 22 | g.37185416C>G | CA411432370 | C1QTNF6 | c.91G>C (p.Ala31Pro) n.3581G>C n.533G>C c.34G>C (p.Ala12Pro) | |
| 22 | g.37185416C>T | CA411432371 | C1QTNF6 | c.91G>A (p.Ala31Thr) n.3581G>A n.533G>A c.34G>A (p.Ala12Thr) | |
| 22 | g.37185417T>A | CA514767891 | C1QTNF6 | c.90A>T (p.Ala30=) n.3580A>T n.532A>T c.33A>T (p.Ala11=) | |
| 22 | g.37185417T>C | CA10217023 | C1QTNF6 | c.90A>G (p.Ala30=) n.3580A>G n.532A>G c.33A>G (p.Ala11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185417T>G | CA514767890 | C1QTNF6 | c.90A>C (p.Ala30=) n.3580A>C n.532A>C c.33A>C (p.Ala11=) | |
| 22 | g.37185417T= | CA2404224306 | C1QTNF6 | c.90A= (p.Ala30=) n.3580A= n.532A= c.33A= (p.Ala11=) | |
| 22 | g.37185418G>A | CA411432374 | C1QTNF6 | c.89C>T (p.Ala30Val) n.3579C>T n.531C>T c.32C>T (p.Ala11Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185418G>C | CA411432372 | C1QTNF6 | c.89C>G (p.Ala30Gly) n.3579C>G n.531C>G c.32C>G (p.Ala11Gly) | |
| 22 | g.37185418G= | CA2404224307 | C1QTNF6 | c.89C= (p.Ala30=) n.3579C= n.531C= c.32C= (p.Ala11=) | |
| 22 | g.37185418G>T | CA411432373 | C1QTNF6 | c.89C>A (p.Ala30Glu) n.3579C>A n.531C>A c.32C>A (p.Ala11Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185419C>A | CA411432375 | C1QTNF6 | c.88G>T (p.Ala30Ser) n.3578G>T n.530G>T c.31G>T (p.Ala11Ser) | gnomAD v4 |
| 22 | g.37185419C= | CA2404224308 | C1QTNF6 | c.88G= (p.Ala30=) n.3578G= n.530G= c.31G= (p.Ala11=) | |
| 22 | g.37185419C>G | CA411432376 | C1QTNF6 | c.88G>C (p.Ala30Pro) n.3578G>C n.530G>C c.31G>C (p.Ala11Pro) | |
| 22 | g.37185419C>T | CA10217024 | C1QTNF6 | c.88G>A (p.Ala30Thr) n.3578G>A n.530G>A c.31G>A (p.Ala11Thr) | dbSNP ExAC gnomAD v4 |
| 22 | g.37185420C>A | CA411432377 | C1QTNF6 | c.87G>T (p.Trp29Cys) n.3577G>T n.529G>T c.30G>T (p.Trp10Cys) | |
| 22 | g.37185420C>G | CA411432378 | C1QTNF6 | c.87G>C (p.Trp29Cys) n.3577G>C n.529G>C c.30G>C (p.Trp10Cys) | |
| 22 | g.37185420C>T | CA411432379 | C1QTNF6 | c.87G>A (p.Trp29Ter) n.3577G>A n.529G>A c.30G>A (p.Trp10Ter) | gnomAD v4 |
| 22 | g.37185421C>A | CA411432380 | C1QTNF6 | c.86G>T (p.Trp29Leu) n.3576G>T n.528G>T c.29G>T (p.Trp10Leu) | |
| 22 | g.37185421C>G | CA411432381 | C1QTNF6 | c.86G>C (p.Trp29Ser) n.3576G>C n.528G>C c.29G>C (p.Trp10Ser) | |
| 22 | g.37185421C>T | CA411432382 | C1QTNF6 | c.86G>A (p.Trp29Ter) n.3576G>A n.528G>A c.29G>A (p.Trp10Ter) | |
| 22 | g.37185422A= | CA2404224309 | C1QTNF6 | c.85T= (p.Trp29=) n.3575T= n.527T= c.28T= (p.Trp10=) | |
| 22 | g.37185422A>C | CA411432383 | C1QTNF6 | c.85T>G (p.Trp29Gly) n.3575T>G n.527T>G c.28T>G (p.Trp10Gly) | |
| 22 | g.37185422A>G | CA324042758 | C1QTNF6 | c.85T>C (p.Trp29Arg) n.3575T>C n.527T>C c.28T>C (p.Trp10Arg) | dbSNP |
| 22 | g.37185422A>T | CA411432384 | C1QTNF6 | c.85T>A (p.Trp29Arg) n.3575T>A n.527T>A c.28T>A (p.Trp10Arg) | |
| 22 | g.37185423G>A | CA514767897 | C1QTNF6 | c.84C>T (p.Val28=) n.3574C>T n.526C>T c.27C>T (p.Val9=) | |
| 22 | g.37185423G>C | CA514767895 | C1QTNF6 | c.84C>G (p.Val28=) n.3574C>G n.526C>G c.27C>G (p.Val9=) | gnomAD v4 |
| 22 | g.37185423G>T | CA514767898 | C1QTNF6 | c.84C>A (p.Val28=) n.3574C>A n.526C>A c.27C>A (p.Val9=) | gnomAD v4 COSMIC |
| 22 | g.37185424A= | CA2404224310 | C1QTNF6 | c.83T= (p.Val28=) n.3573T= n.525T= c.26T= (p.Val9=) | |
| 22 | g.37185424A>C | CA411432385 | C1QTNF6 | c.83T>G (p.Val28Gly) n.3573T>G n.525T>G c.26T>G (p.Val9Gly) | |
| 22 | g.37185424A>G | CA10217025 | C1QTNF6 | c.83T>C (p.Val28Ala) n.3573T>C n.525T>C c.26T>C (p.Val9Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185424A>T | CA411432386 | C1QTNF6 | c.83T>A (p.Val28Asp) n.3573T>A n.525T>A c.26T>A (p.Val9Asp) | |
| 22 | g.37185425C>A | CA411432387 | C1QTNF6 | c.82G>T (p.Val28Phe) n.3572G>T n.524G>T c.25G>T (p.Val9Phe) | gnomAD v4 |
| 22 | g.37185425C= | CA2404224311 | C1QTNF6 | c.82G= (p.Val28=) n.3572G= n.524G= c.25G= (p.Val9=) | |
| 22 | g.37185425C>G | CA411432388 | C1QTNF6 | c.82G>C (p.Val28Leu) n.3572G>C n.524G>C c.25G>C (p.Val9Leu) | |
| 22 | g.37185425C>T | CA10217026 | C1QTNF6 | c.82G>A (p.Val28Ile) n.3572G>A n.524G>A c.25G>A (p.Val9Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185426G>A | CA10217027 | C1QTNF6 | c.81C>T (p.Pro27=) n.3571C>T n.523C>T c.24C>T (p.Pro8=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185426G>C | CA514767903 | C1QTNF6 | c.81C>G (p.Pro27=) n.3571C>G n.523C>G c.24C>G (p.Pro8=) | |
| 22 | g.37185426G= | CA2404224312 | C1QTNF6 | c.81C= (p.Pro27=) n.3571C= n.523C= c.24C= (p.Pro8=) | |
| 22 | g.37185426G>T | CA514767904 | C1QTNF6 | c.81C>A (p.Pro27=) n.3571C>A n.523C>A c.24C>A (p.Pro8=) | |
| 22 | g.37185427G>A | CA411432390 | C1QTNF6 | c.80C>T (p.Pro27Leu) n.3570C>T n.522C>T c.23C>T (p.Pro8Leu) | gnomAD v4 |
| 22 | g.37185427G>C | CA411432389 | C1QTNF6 | c.80C>G (p.Pro27Arg) n.3570C>G n.522C>G c.23C>G (p.Pro8Arg) | |
| 22 | g.37185427G>T | CA411432391 | C1QTNF6 | c.80C>A (p.Pro27His) n.3570C>A n.522C>A c.23C>A (p.Pro8His) | gnomAD v4 |
| 22 | g.37185428G>A | CA411432392 | C1QTNF6 | c.79C>T (p.Pro27Ser) n.3569C>T n.521C>T c.22C>T (p.Pro8Ser) | |
| 22 | g.37185428G>C | CA411432393 | C1QTNF6 | c.79C>G (p.Pro27Ala) n.3569C>G n.521C>G c.22C>G (p.Pro8Ala) | dbSNP |
| 22 | g.37185428G= | CA2404224313 | C1QTNF6 | c.79C= (p.Pro27=) n.3569C= n.521C= c.22C= (p.Pro8=) | |
| 22 | g.37185428G>T | CA411432394 | C1QTNF6 | c.79C>A (p.Pro27Thr) n.3569C>A n.521C>A c.22C>A (p.Pro8Thr) | |
| 22 | g.37185429A>C | CA514767905 | C1QTNF6 | c.78T>G (p.Gly26=) n.3568T>G n.520T>G c.21T>G (p.Gly7=) | |
| 22 | g.37185429A>G | CA514767906 | C1QTNF6 | c.78T>C (p.Gly26=) n.3568T>C n.520T>C c.21T>C (p.Gly7=) | |
| 22 | g.37185429A>T | CA514767907 | C1QTNF6 | c.78T>A (p.Gly26=) n.3568T>A n.520T>A c.21T>A (p.Gly7=) | |
| 22 | g.37185430C>A | CA411432395 | C1QTNF6 | c.77G>T (p.Gly26Val) n.3567G>T n.519G>T c.20G>T (p.Gly7Val) | gnomAD v4 |
| 22 | g.37185430C= | CA2404224314 | C1QTNF6 | c.77G= (p.Gly26=) n.3567G= n.519G= c.20G= (p.Gly7=) | |
| 22 | g.37185430C>G | CA411432396 | C1QTNF6 | c.77G>C (p.Gly26Ala) n.3567G>C n.519G>C c.20G>C (p.Gly7Ala) | |
| 22 | g.37185430C>T | CA10217028 | C1QTNF6 | c.77G>A (p.Gly26Asp) n.3567G>A n.519G>A c.20G>A (p.Gly7Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37185431C>A | CA411432399 | C1QTNF6 | c.76G>T (p.Gly26Cys) n.3566G>T n.518G>T c.19G>T (p.Gly7Cys) | gnomAD v4 |
| 22 | g.37185431C>G | CA411432398 | C1QTNF6 | c.76G>C (p.Gly26Arg) n.3566G>C n.518G>C c.19G>C (p.Gly7Arg) | |
| 22 | g.37185431C>T | CA411432397 | C1QTNF6 | c.76G>A (p.Gly26Ser) n.3566G>A n.518G>A c.19G>A (p.Gly7Ser) | gnomAD v4 |
| 22 | g.37185432C>A | CA514767910 | C1QTNF6 | c.75G>T (p.Leu25=) n.3565G>T n.517G>T c.18G>T (p.Leu6=) | gnomAD v4 |
| 22 | g.37185432C= | CA2404224315 | C1QTNF6 | c.75G= (p.Leu25=) n.3565G= n.517G= c.18G= (p.Leu6=) | |
| 22 | g.37185432C>G | CA514767911 | C1QTNF6 | c.75G>C (p.Leu25=) n.3565G>C n.517G>C c.18G>C (p.Leu6=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.37185432C>T | CA514767913 | C1QTNF6 | c.75G>A (p.Leu25=) n.3565G>A n.517G>A c.18G>A (p.Leu6=) | gnomAD v4 |
| 22 | g.37185433A>C | CA411432400 | C1QTNF6 | c.74T>G (p.Leu25Arg) n.3564T>G n.516T>G c.17T>G (p.Leu6Arg) | |
| 22 | g.37185433A>G | CA411432401 | C1QTNF6 | c.74T>C (p.Leu25Pro) n.3564T>C n.516T>C c.17T>C (p.Leu6Pro) | |
| 22 | g.37185433A>T | CA411432402 | C1QTNF6 | c.74T>A (p.Leu25Gln) n.3564T>A n.516T>A c.17T>A (p.Leu6Gln) | |
| 22 | g.37185434G>A | CA514767914 | C1QTNF6 | c.73C>T (p.Leu25=) n.3563C>T n.515C>T c.16C>T (p.Leu6=) | |
| 22 | g.37185434G>C | CA411432403 | C1QTNF6 | c.73C>G (p.Leu25Val) n.3563C>G n.515C>G c.16C>G (p.Leu6Val) | |
| 22 | g.37185434G>T | CA411432404 | C1QTNF6 | c.73C>A (p.Leu25Met) n.3563C>A n.515C>A c.16C>A (p.Leu6Met) | |
| 22 | g.37185435G>A | CA10217029 | C1QTNF6 | c.72C>T (p.Ala24=) n.3562C>T n.514C>T c.15C>T (p.Ala5=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.37185435G>C | CA514767916 | C1QTNF6 | c.72C>G (p.Ala24=) n.3562C>G n.514C>G c.15C>G (p.Ala5=) | |
| 22 | g.37185435G= | CA2404224316 | C1QTNF6 | c.72C= (p.Ala24=) n.3562C= n.514C= c.15C= (p.Ala5=) | |
| 22 | g.37185435G>T | CA514767918 | C1QTNF6 | c.72C>A (p.Ala24=) n.3562C>A n.514C>A c.15C>A (p.Ala5=) | |
| 22 | g.37185436G>A | CA411432405 | C1QTNF6 | c.71C>T (p.Ala24Val) n.3561C>T n.513C>T c.14C>T (p.Ala5Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.37185436G>C | CA411432407 | C1QTNF6 | c.71C>G (p.Ala24Gly) n.3561C>G n.513C>G c.14C>G (p.Ala5Gly) | |
| 22 | g.37185436G= | CA2404224317 | C1QTNF6 | c.71C= (p.Ala24=) n.3561C= n.513C= c.14C= (p.Ala5=) | |
| 22 | g.37185436G>T | CA411432406 | C1QTNF6 | c.71C>A (p.Ala24Asp) n.3561C>A n.513C>A c.14C>A (p.Ala5Asp) | |
| 22 | g.37185437C>A | CA411432408 | C1QTNF6 | c.70G>T (p.Ala24Ser) n.3560G>T n.512G>T c.13G>T (p.Ala5Ser) | gnomAD v4 |
| 22 | g.37185437C= | CA2404224318 | C1QTNF6 | c.70G= (p.Ala24=) n.3560G= n.512G= c.13G= (p.Ala5=) | |
| 22 | g.37185437C>G | CA411432409 | C1QTNF6 | c.70G>C (p.Ala24Pro) n.3560G>C n.512G>C c.13G>C (p.Ala5Pro) | |
| 22 | g.37185437C>T | CA10217030 | C1QTNF6 | c.70G>A (p.Ala24Thr) n.3560G>A n.512G>A c.13G>A (p.Ala5Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |