2 | g.5693215A>C | CA345866827 | SOX11 | c.494A>C (p.Lys165Thr)
| |
2 | g.5693215A>G | CA345866828 | SOX11 | c.494A>G (p.Lys165Arg)
| gnomAD v4 |
2 | g.5693215A>T | CA345866829 | SOX11 | c.494A>T (p.Lys165Met)
| |
2 | g.5693216G>A | CA424763199 | SOX11 | c.495G>A (p.Lys165=)
| |
2 | g.5693216G>C | CA345866830 | SOX11 | c.495G>C (p.Lys165Asn)
| |
2 | g.5693216G>T | CA345866831 | SOX11 | c.495G>T (p.Lys165Asn)
| COSMIC |
2 | g.5693217A>C | CA345866833 | SOX11 | c.496A>C (p.Lys166Gln)
| |
2 | g.5693217A>G | CA345866834 | SOX11 | c.496A>G (p.Lys166Glu)
| |
2 | g.5693217A>T | CA345866832 | SOX11 | c.496A>T (p.Lys166Ter)
| |
2 | g.5693218A= | CA1235671916 | SOX11 | c.497A= (p.Lys166=)
| |
2 | g.5693218A>C | CA345866835 | SOX11 | c.497A>C (p.Lys166Thr)
| |
2 | g.5693218A>G | CA1517850 | SOX11 | c.497A>G (p.Lys166Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693218A>T | CA345866836 | SOX11 | c.497A>T (p.Lys166Ile)
| |
2 | g.5693219A>C | CA345866837 | SOX11 | c.498A>C (p.Lys166Asn)
| gnomAD v3 gnomAD v4 |
2 | g.5693219A>G | CA424763209 | SOX11 | c.498A>G (p.Lys166=)
| |
2 | g.5693219A>T | CA345866838 | SOX11 | c.498A>T (p.Lys166Asn)
| |
2 | g.5693220T>A | CA345866839 | SOX11 | c.499T>A (p.Cys167Ser)
| gnomAD v4 |
2 | g.5693220T>C | CA345866840 | SOX11 | c.499T>C (p.Cys167Arg)
| dbSNP gnomAD v4 |
2 | g.5693220T>G | CA345866841 | SOX11 | c.499T>G (p.Cys167Gly)
| |
2 | g.5693220T= | CA1235671920 | SOX11 | c.499T= (p.Cys167=)
| |
2 | g.5693221G>A | CA345866842 | SOX11 | c.500G>A (p.Cys167Tyr)
| gnomAD v4 |
2 | g.5693221G>C | CA42006682 | SOX11 | c.500G>C (p.Cys167Ser)
| dbSNP gnomAD v4 |
2 | g.5693221G= | CA1235671926 | SOX11 | c.500G= (p.Cys167=)
| |
2 | g.5693221G>T | CA345866843 | SOX11 | c.500G>T (p.Cys167Phe)
| gnomAD v4 |
2 | g.5693224_5693253dup | CA1235671925 | SOX11 | c.503_532dup (p.Gly177_Ala178insGlyLysLeuLysAlaProAlaAlaAlaGly)
| dbSNP |
2 | g.5693222C>A | CA345866844 | SOX11 | c.501C>A (p.Cys167Ter)
| gnomAD v4 |
2 | g.5693222C= | CA1235671927 | SOX11 | c.501C= (p.Cys167=)
| |
2 | g.5693222C>G | CA345866845 | SOX11 | c.501C>G (p.Cys167Trp)
| |
2 | g.5693222C>T | CA424763215 | SOX11 | c.501C>T (p.Cys167=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693223G>A | CA345866848 | SOX11 | c.502G>A (p.Gly168Ser)
| gnomAD v4 |
2 | g.5693223G>C | CA345866847 | SOX11 | c.502G>C (p.Gly168Arg)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693223G= | CA1235671928 | SOX11 | c.502G= (p.Gly168=)
| |
2 | g.5693223G>T | CA345866846 | SOX11 | c.502G>T (p.Gly168Cys)
| gnomAD v4 |
2 | g.5693224G>A | CA345866849 | SOX11 | c.503G>A (p.Gly168Asp)
| gnomAD v4 |
2 | g.5693224G>C | CA345866850 | SOX11 | c.503G>C (p.Gly168Ala)
| |
2 | g.5693224G= | CA1235671929 | SOX11 | c.503G= (p.Gly168=)
| |
2 | g.5693224G>T | CA345866851 | SOX11 | c.503G>T (p.Gly168Val)
| dbSNP gnomAD v4 |
2 | g.5693225C>A | CA424763223 | SOX11 | c.504C>A (p.Gly168=)
| gnomAD v4 |
2 | g.5693225C= | CA1235671930 | SOX11 | c.504C= (p.Gly168=)
| |
2 | g.5693225C>G | CA424763227 | SOX11 | c.504C>G (p.Gly168=)
| dbSNP gnomAD v4 |
2 | g.5693225C>T | CA424763229 | SOX11 | c.504C>T (p.Gly168=)
| |
2 | g.5693226A>C | CA345866852 | SOX11 | c.505A>C (p.Lys169Gln)
| |
2 | g.5693226A>G | CA345866853 | SOX11 | c.505A>G (p.Lys169Glu)
| |
2 | g.5693226A>T | CA345866854 | SOX11 | c.505A>T (p.Lys169Ter)
| |
2 | g.5693227A>C | CA345866855 | SOX11 | c.506A>C (p.Lys169Thr)
| |
2 | g.5693227A>G | CA345866856 | SOX11 | c.506A>G (p.Lys169Arg)
| gnomAD v4 |
2 | g.5693227A>T | CA345866857 | SOX11 | c.506A>T (p.Lys169Met)
| |
2 | g.5693228G>A | CA424763234 | SOX11 | c.507G>A (p.Lys169=)
| gnomAD v4 |
2 | g.5693228G>C | CA345866858 | SOX11 | c.507G>C (p.Lys169Asn)
| |
2 | g.5693228G>T | CA345866859 | SOX11 | c.507G>T (p.Lys169Asn)
| gnomAD v4 |
2 | g.5693229C>A | CA345866861 | SOX11 | c.508C>A (p.Leu170Ile)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693229C= | CA1235671931 | SOX11 | c.508C= (p.Leu170=)
| |
2 | g.5693229C>G | CA345866862 | SOX11 | c.508C>G (p.Leu170Val)
| |
2 | g.5693229C>T | CA345866860 | SOX11 | c.508C>T (p.Leu170Phe)
| |
2 | g.5693230T>A | CA345866863 | SOX11 | c.509T>A (p.Leu170His)
| |
2 | g.5693230T>C | CA345866864 | SOX11 | c.509T>C (p.Leu170Pro)
| dbSNP |
2 | g.5693230T>G | CA345866865 | SOX11 | c.509T>G (p.Leu170Arg)
| |
2 | g.5693230_5693254delinsTCAAGGCCCCCGCGGCCGCGGGCGC | CA1235671932 | SOX11 | c.509_533delinsTCAAGGCCCCCGCGGCCGCGGGCGC (p.Leu170=)
| |
2 | g.5693231C>A | CA42006683 | SOX11 | c.510C>A (p.Leu170=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693231C= | CA1235671934 | SOX11 | c.510C= (p.Leu170=)
| |
2 | g.5693231C>G | CA424763240 | SOX11 | c.510C>G (p.Leu170=)
| gnomAD v4 |
2 | g.5693231C>T | CA424763241 | SOX11 | c.510C>T (p.Leu170=)
| |
2 | g.5693237_5693260dup | CA1027167757 | SOX11 | c.516_539dup (p.Ala180_Gly181insProAlaAlaAlaGlyAlaLysAla)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693237_5693260del | CA1235671933 | SOX11 | c.516_539del (p.Pro173_Ala180del)
| dbSNP gnomAD v4 |
2 | g.5693232A= | CA1235671935 | SOX11 | c.511A= (p.Lys171=)
| |
2 | g.5693232A>C | CA345866866 | SOX11 | c.511A>C (p.Lys171Gln)
| gnomAD v4 |
2 | g.5693232A>G | CA345866867 | SOX11 | c.511A>G (p.Lys171Glu)
| |
2 | g.5693232A>T | CA345866868 | SOX11 | c.511A>T (p.Lys171Ter)
| ClinVar dbSNP |
2 | g.5693233A>C | CA345866871 | SOX11 | c.512A>C (p.Lys171Thr)
| |
2 | g.5693233A>G | CA345866869 | SOX11 | c.512A>G (p.Lys171Arg)
| gnomAD v4 |
2 | g.5693233A>T | CA345866870 | SOX11 | c.512A>T (p.Lys171Met)
| |
2 | g.5693234G>A | CA424763247 | SOX11 | c.513G>A (p.Lys171=)
| gnomAD v4 |
2 | g.5693234G>C | CA345866872 | SOX11 | c.513G>C (p.Lys171Asn)
| |
2 | g.5693234G>T | CA345866873 | SOX11 | c.513G>T (p.Lys171Asn)
| |
2 | g.5693235G>A | CA345866874 | SOX11 | c.514G>A (p.Ala172Thr)
| gnomAD v4 |
2 | g.5693235G>C | CA345866875 | SOX11 | c.514G>C (p.Ala172Pro)
| |
2 | g.5693235G>T | CA345866876 | SOX11 | c.514G>T (p.Ala172Ser)
| gnomAD v4 |
2 | g.5693236C>A | CA345866877 | SOX11 | c.515C>A (p.Ala172Asp)
| gnomAD v4 |
2 | g.5693236C= | CA1235671936 | SOX11 | c.515C= (p.Ala172=)
| |
2 | g.5693236C>G | CA345866879 | SOX11 | c.515C>G (p.Ala172Gly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693236C>T | CA345866878 | SOX11 | c.515C>T (p.Ala172Val)
| dbSNP gnomAD v4 |
2 | g.5693240dup | CA2657723936 | SOX11 | c.519dup (p.Ala174ArgfsTer?)
| gnomAD v4 |
2 | g.5693240del | CA2586968697 | SOX11 | c.519del (p.Ala174ArgfsTer?)
| gnomAD v4 |
2 | g.5693237C>A | CA424763253 | SOX11 | c.516C>A (p.Ala172=)
| |
2 | g.5693237C>G | CA424763256 | SOX11 | c.516C>G (p.Ala172=)
| gnomAD v4 |
2 | g.5693237C>T | CA424763257 | SOX11 | c.516C>T (p.Ala172=)
| |
2 | g.5693238C>A | CA345866880 | SOX11 | c.517C>A (p.Pro173Thr)
| gnomAD v4 |
2 | g.5693238C= | CA1235671937 | SOX11 | c.517C= (p.Pro173=)
| |
2 | g.5693238C>G | CA345866881 | SOX11 | c.517C>G (p.Pro173Ala)
| |
2 | g.5693238C>T | CA345866882 | SOX11 | c.517C>T (p.Pro173Ser)
| |
2 | g.5693239C>A | CA345866883 | SOX11 | c.518C>A (p.Pro173His)
| gnomAD v4 |
2 | g.5693239C>G | CA345866884 | SOX11 | c.518C>G (p.Pro173Arg)
| |
2 | g.5693239C>T | CA345866885 | SOX11 | c.518C>T (p.Pro173Leu)
| |
2 | g.5693245_5693250dup | CA770423171 | SOX11 | c.524_529dup (p.Ala176_Gly177insAlaAla)
| dbSNP |
2 | g.5693240C>A | CA424763263 | SOX11 | c.519C>A (p.Pro173=)
| gnomAD v4 |
2 | g.5693240C>G | CA424763267 | SOX11 | c.519C>G (p.Pro173=)
| |
2 | g.5693240C>T | CA424763268 | SOX11 | c.519C>T (p.Pro173=)
| gnomAD v4 |
2 | g.5693241G>A | CA345866886 | SOX11 | c.520G>A (p.Ala174Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.5693241G>C | CA345866887 | SOX11 | c.520G>C (p.Ala174Pro)
| |
2 | g.5693241G= | CA1235671938 | SOX11 | c.520G= (p.Ala174=)
| |
2 | g.5693241G>T | CA345866888 | SOX11 | c.520G>T (p.Ala174Ser)
| gnomAD v4 |
2 | g.5693242C>A | CA42006684 | SOX11 | c.521C>A (p.Ala174Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693242C= | CA1235671939 | SOX11 | c.521C= (p.Ala174=)
| |
2 | g.5693242C>G | CA345866889 | SOX11 | c.521C>G (p.Ala174Gly)
| |
2 | g.5693242C>T | CA345866890 | SOX11 | c.521C>T (p.Ala174Val)
| dbSNP gnomAD v4 |
2 | g.5693243G>A | CA424763273 | SOX11 | c.522G>A (p.Ala174=)
| dbSNP gnomAD v4 |
2 | g.5693243G>C | CA424763275 | SOX11 | c.522G>C (p.Ala174=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693243G= | CA1235671940 | SOX11 | c.522G= (p.Ala174=)
| |
2 | g.5693243G>T | CA424763274 | SOX11 | c.522G>T (p.Ala174=)
| gnomAD v4 |
2 | g.5693244G>A | CA345866892 | SOX11 | c.523G>A (p.Ala175Thr)
| gnomAD v4 |
2 | g.5693244G>C | CA345866893 | SOX11 | c.523G>C (p.Ala175Pro)
| |
2 | g.5693244G>T | CA345866891 | SOX11 | c.523G>T (p.Ala175Ser)
| gnomAD v4 |
2 | g.5693245C>A | CA345866896 | SOX11 | c.524C>A (p.Ala175Asp)
| gnomAD v4 |
2 | g.5693245C>G | CA345866894 | SOX11 | c.524C>G (p.Ala175Gly)
| gnomAD v4 |
2 | g.5693245C>T | CA345866895 | SOX11 | c.524C>T (p.Ala175Val)
| gnomAD v4 |
2 | g.5693246_5693247insCCC | CA2576667536 | SOX11 | c.525_526insCCC (p.Ala175_Ala176insPro)
| |
2 | g.5693246C>A | CA424763282 | SOX11 | c.525C>A (p.Ala175=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693246C= | CA1235671941 | SOX11 | c.525C= (p.Ala175=)
| |
2 | g.5693246C>G | CA424763280 | SOX11 | c.525C>G (p.Ala175=)
| ClinVar dbSNP gnomAD v4 |
2 | g.5693246C>T | CA424763281 | SOX11 | c.525C>T (p.Ala175=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693246_5693258delinsCGCGGGCGCCAAG | CA1235671942 | SOX11 | c.525_537delinsCGCGGGCGCCAAG (p.Ala175=)
| |
2 | g.5693247G>A | CA345866897 | SOX11 | c.526G>A (p.Ala176Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693247G>C | CA345866898 | SOX11 | c.526G>C (p.Ala176Pro)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693247G= | CA1235671943 | SOX11 | c.526G= (p.Ala176=)
| |
2 | g.5693247G>T | CA345866899 | SOX11 | c.526G>T (p.Ala176Ser)
| gnomAD v4 |
2 | g.5693255_5693266del | CA1027167758 | SOX11 | c.534_545del (p.Lys179_Ala182del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693248C>A | CA345866900 | SOX11 | c.527C>A (p.Ala176Glu)
| ClinVar gnomAD v4 |
2 | g.5693248C= | CA1235671944 | SOX11 | c.527C= (p.Ala176=)
| |
2 | g.5693248C>G | CA345866901 | SOX11 | c.527C>G (p.Ala176Gly)
| dbSNP |
2 | g.5693248C>T | CA345866902 | SOX11 | c.527C>T (p.Ala176Val)
| gnomAD v4 |
2 | g.5693249G>A | CA424763286 | SOX11 | c.528G>A (p.Ala176=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693249G>C | CA424763287 | SOX11 | c.528G>C (p.Ala176=)
| dbSNP gnomAD v4 |
2 | g.5693249G= | CA1235671945 | SOX11 | c.528G= (p.Ala176=)
| |
2 | g.5693249G>T | CA424763289 | SOX11 | c.528G>T (p.Ala176=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693250G>A | CA345866903 | SOX11 | c.529G>A (p.Gly177Ser)
| gnomAD v4 |
2 | g.5693250G>C | CA345866905 | SOX11 | c.529G>C (p.Gly177Arg)
| |
2 | g.5693250G>T | CA345866904 | SOX11 | c.529G>T (p.Gly177Cys)
| gnomAD v4 |
2 | g.5693250_5693251insCCGGCG | CA2576667537 | SOX11 | c.529_530insCCGGCG (p.Ala176_Gly177insAlaGly)
| |
2 | g.5693251G>A | CA345866906 | SOX11 | c.530G>A (p.Gly177Asp)
| |
2 | g.5693251G>C | CA345866907 | SOX11 | c.530G>C (p.Gly177Ala)
| |
2 | g.5693251G>T | CA345866908 | SOX11 | c.530G>T (p.Gly177Val)
| dbSNP gnomAD v4 |
2 | g.5693252C>A | CA424763292 | SOX11 | c.531C>A (p.Gly177=)
| gnomAD v4 |
2 | g.5693252C= | CA1235671946 | SOX11 | c.531C= (p.Gly177=)
| |
2 | g.5693252C>G | CA424763294 | SOX11 | c.531C>G (p.Gly177=)
| gnomAD v4 |
2 | g.5693252C>T | CA42006685 | SOX11 | c.531C>T (p.Gly177=)
| dbSNP gnomAD v4 |
2 | g.5693253G>A | CA345866911 | SOX11 | c.532G>A (p.Ala178Thr)
| gnomAD v4 |
2 | g.5693253G>C | CA345866909 | SOX11 | c.532G>C (p.Ala178Pro)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693253G= | CA1235671947 | SOX11 | c.532G= (p.Ala178=)
| |
2 | g.5693253G>T | CA345866910 | SOX11 | c.532G>T (p.Ala178Ser)
| dbSNP gnomAD v4 |
2 | g.5693254C>A | CA345866912 | SOX11 | c.533C>A (p.Ala178Asp)
| |
2 | g.5693254C>G | CA345866913 | SOX11 | c.533C>G (p.Ala178Gly)
| |
2 | g.5693254C>T | CA345866914 | SOX11 | c.533C>T (p.Ala178Val)
| gnomAD v4 |
2 | g.5693254_5693255del | CA2531156757 | SOX11 | c.533_534del (p.Ala178GlufsTer?)
| |
2 | g.5693255C>A | CA424763299 | SOX11 | c.534C>A (p.Ala178=)
| gnomAD v4 |
2 | g.5693255C= | CA1235671948 | SOX11 | c.534C= (p.Ala178=)
| |
2 | g.5693255C>G | CA424763301 | SOX11 | c.534C>G (p.Ala178=)
| |
2 | g.5693255C>T | CA424763300 | SOX11 | c.534C>T (p.Ala178=)
| dbSNP |
2 | g.5693256A>C | CA345866915 | SOX11 | c.535A>C (p.Lys179Gln)
| |
2 | g.5693256A>G | CA345866916 | SOX11 | c.535A>G (p.Lys179Glu)
| gnomAD v4 |
2 | g.5693256A>T | CA345866917 | SOX11 | c.535A>T (p.Lys179Ter)
| gnomAD v4 |
2 | g.5693257A>C | CA345866920 | SOX11 | c.536A>C (p.Lys179Thr)
| |
2 | g.5693257A>G | CA345866918 | SOX11 | c.536A>G (p.Lys179Arg)
| |
2 | g.5693257A>T | CA345866919 | SOX11 | c.536A>T (p.Lys179Met)
| gnomAD v4 |
2 | g.5693258G>A | CA42006686 | SOX11 | c.537G>A (p.Lys179=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693258G>C | CA345866921 | SOX11 | c.537G>C (p.Lys179Asn)
| |
2 | g.5693258G= | CA1235660067 | SOX11 | c.537G= (p.Lys179=)
| |
2 | g.5693258G>T | CA345866922 | SOX11 | c.537G>T (p.Lys179Asn)
| gnomAD v4 |
2 | g.5693259G>A | CA345866923 | SOX11 | c.538G>A (p.Ala180Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693259G>C | CA345866924 | SOX11 | c.538G>C (p.Ala180Pro)
| |
2 | g.5693259G= | CA1235660076 | SOX11 | c.538G= (p.Ala180=)
| |
2 | g.5693259G>T | CA345866925 | SOX11 | c.538G>T (p.Ala180Ser)
| |
2 | g.5693260C>A | CA42006687 | SOX11 | c.539C>A (p.Ala180Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693260C= | CA1235660080 | SOX11 | c.539C= (p.Ala180=)
| |
2 | g.5693260C>G | CA345866927 | SOX11 | c.539C>G (p.Ala180Gly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693260C>T | CA345866926 | SOX11 | c.539C>T (p.Ala180Val)
| ClinVar dbSNP gnomAD v4 |
2 | g.5693261G>A | CA424763312 | SOX11 | c.540G>A (p.Ala180=)
| gnomAD v4 |
2 | g.5693261G>C | CA424763313 | SOX11 | c.540G>C (p.Ala180=)
| |
2 | g.5693261G>T | CA424763315 | SOX11 | c.540G>T (p.Ala180=)
| gnomAD v4 |
2 | g.5693263del | CA2657723937 | SOX11 | c.542del (p.Gly181AlafsTer25)
| gnomAD v4 |
2 | g.5693262G>A | CA345866928 | SOX11 | c.541G>A (p.Gly181Ser)
| dbSNP gnomAD v4 |
2 | g.5693262G>C | CA345866929 | SOX11 | c.541G>C (p.Gly181Arg)
| |
2 | g.5693262G= | CA1235660082 | SOX11 | c.541G= (p.Gly181=)
| |
2 | g.5693262G>T | CA345866930 | SOX11 | c.541G>T (p.Gly181Cys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693263G>A | CA345866931 | SOX11 | c.542G>A (p.Gly181Asp)
| gnomAD v4 |
2 | g.5693263G>C | CA345866932 | SOX11 | c.542G>C (p.Gly181Ala)
| |
2 | g.5693263G= | CA1235660085 | SOX11 | c.542G= (p.Gly181=)
| |
2 | g.5693263G>T | CA345866933 | SOX11 | c.542G>T (p.Gly181Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693264C>A | CA424763322 | SOX11 | c.543C>A (p.Gly181=)
| gnomAD v4 |
2 | g.5693264C= | CA1235660088 | SOX11 | c.543C= (p.Gly181=)
| |
2 | g.5693264C>G | CA1517851 | SOX11 | c.543C>G (p.Gly181=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693264C>T | CA424763324 | SOX11 | c.543C>T (p.Gly181=)
| gnomAD v4 |
2 | g.5693265G>A | CA345866934 | SOX11 | c.544G>A (p.Ala182Thr)
| dbSNP gnomAD v4 |
2 | g.5693265G>C | CA345866936 | SOX11 | c.544G>C (p.Ala182Pro)
| |
2 | g.5693265G= | CA1235660098 | SOX11 | c.544G= (p.Ala182=)
| |
2 | g.5693265G>T | CA345866935 | SOX11 | c.544G>T (p.Ala182Ser)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693266C>A | CA345866937 | SOX11 | c.545C>A (p.Ala182Glu)
| gnomAD v4 |
2 | g.5693266C= | CA1235660103 | SOX11 | c.545C= (p.Ala182=)
| |
2 | g.5693266C>G | CA345866938 | SOX11 | c.545C>G (p.Ala182Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693266C>T | CA345866939 | SOX11 | c.545C>T (p.Ala182Val)
| gnomAD v4 |
2 | g.5693267G>A | CA424763327 | SOX11 | c.546G>A (p.Ala182=)
| dbSNP gnomAD v4 |
2 | g.5693267G>C | CA424763330 | SOX11 | c.546G>C (p.Ala182=)
| ClinVar |
2 | g.5693267G= | CA1235660107 | SOX11 | c.546G= (p.Ala182=)
| |
2 | g.5693267G>T | CA1517852 | SOX11 | c.546G>T (p.Ala182=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693268G>A | CA42006688 | SOX11 | c.547G>A (p.Gly183Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693268G>C | CA345866941 | SOX11 | c.547G>C (p.Gly183Arg)
| gnomAD v4 |
2 | g.5693268G= | CA1235660111 | SOX11 | c.547G= (p.Gly183=)
| |
2 | g.5693268G>T | CA345866940 | SOX11 | c.547G>T (p.Gly183Cys)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693269G>A | CA345866942 | SOX11 | c.548G>A (p.Gly183Asp)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693269G>C | CA345866943 | SOX11 | c.548G>C (p.Gly183Ala)
| |
2 | g.5693269G= | CA1235660116 | SOX11 | c.548G= (p.Gly183=)
| |
2 | g.5693269G>T | CA345866944 | SOX11 | c.548G>T (p.Gly183Val)
| gnomAD v4 |
2 | g.5693270C>A | CA424763333 | SOX11 | c.549C>A (p.Gly183=)
| gnomAD v4 |
2 | g.5693270C>G | CA424763331 | SOX11 | c.549C>G (p.Gly183=)
| |
2 | g.5693270C>T | CA424763332 | SOX11 | c.549C>T (p.Gly183=)
| |
2 | g.5693271A>C | CA345866945 | SOX11 | c.550A>C (p.Lys184Gln)
| gnomAD v4 |
2 | g.5693271A>G | CA345866946 | SOX11 | c.550A>G (p.Lys184Glu)
| |
2 | g.5693271A>T | CA345866947 | SOX11 | c.550A>T (p.Lys184Ter)
| |
2 | g.5693272A= | CA1235660119 | SOX11 | c.551A= (p.Lys184=)
| |
2 | g.5693272A>C | CA345866948 | SOX11 | c.551A>C (p.Lys184Thr)
| |
2 | g.5693272A>G | CA345866949 | SOX11 | c.551A>G (p.Lys184Arg)
| dbSNP |
2 | g.5693272A>T | CA345866950 | SOX11 | c.551A>T (p.Lys184Met)
| |
2 | g.5693273G>A | CA424763334 | SOX11 | c.552G>A (p.Lys184=)
| gnomAD v4 |
2 | g.5693273G>C | CA345866951 | SOX11 | c.552G>C (p.Lys184Asn)
| |
2 | g.5693273G>T | CA345866952 | SOX11 | c.552G>T (p.Lys184Asn)
| gnomAD v4 |
2 | g.5693274G>A | CA345866953 | SOX11 | c.553G>A (p.Ala185Thr)
| |
2 | g.5693274G>C | CA345866955 | SOX11 | c.553G>C (p.Ala185Pro)
| gnomAD v4 |
2 | g.5693274G>T | CA345866954 | SOX11 | c.553G>T (p.Ala185Ser)
| |
2 | g.5693275C>A | CA345866956 | SOX11 | c.554C>A (p.Ala185Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693275C= | CA1235660121 | SOX11 | c.554C= (p.Ala185=)
| |
2 | g.5693275C>G | CA345866958 | SOX11 | c.554C>G (p.Ala185Gly)
| |
2 | g.5693275C>T | CA345866957 | SOX11 | c.554C>T (p.Ala185Val)
| dbSNP gnomAD v4 |
2 | g.5693276G>A | CA424763338 | SOX11 | c.555G>A (p.Ala185=)
| dbSNP gnomAD v4 |
2 | g.5693276G>C | CA424763339 | SOX11 | c.555G>C (p.Ala185=)
| |
2 | g.5693276G= | CA1235660123 | SOX11 | c.555G= (p.Ala185=)
| |
2 | g.5693276G>T | CA424763340 | SOX11 | c.555G>T (p.Ala185=)
| gnomAD v4 |
2 | g.5693277G>A | CA345866959 | SOX11 | c.556G>A (p.Ala186Thr)
| gnomAD v4 |
2 | g.5693277G>C | CA345866960 | SOX11 | c.556G>C (p.Ala186Pro)
| |
2 | g.5693277G= | CA1235660125 | SOX11 | c.556G= (p.Ala186=)
| |
2 | g.5693277G>T | CA345866961 | SOX11 | c.556G>T (p.Ala186Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.5693278C>A | CA345866962 | SOX11 | c.557C>A (p.Ala186Asp)
| gnomAD v4 |
2 | g.5693278C= | CA1235660130 | SOX11 | c.557C= (p.Ala186=)
| |
2 | g.5693278C>G | CA345866963 | SOX11 | c.557C>G (p.Ala186Gly)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693278C>T | CA345866964 | SOX11 | c.557C>T (p.Ala186Val)
| gnomAD v4 |
2 | g.5693279C>A | CA424763343 | SOX11 | c.558C>A (p.Ala186=)
| gnomAD v4 |
2 | g.5693279C= | CA1235660132 | SOX11 | c.558C= (p.Ala186=)
| |
2 | g.5693279C>G | CA424763345 | SOX11 | c.558C>G (p.Ala186=)
| |
2 | g.5693279C>T | CA424763346 | SOX11 | c.558C>T (p.Ala186=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693280C>A | CA345866965 | SOX11 | c.559C>A (p.Gln187Lys)
| gnomAD v4 |
2 | g.5693280C>G | CA345866966 | SOX11 | c.559C>G (p.Gln187Glu)
| dbSNP |
2 | g.5693280C>T | CA345866967 | SOX11 | c.559C>T (p.Gln187Ter)
| |
2 | g.5693281A>C | CA345866968 | SOX11 | c.560A>C (p.Gln187Pro)
| |
2 | g.5693281A>G | CA345866969 | SOX11 | c.560A>G (p.Gln187Arg)
| gnomAD v4 |
2 | g.5693281A>T | CA345866970 | SOX11 | c.560A>T (p.Gln187Leu)
| |
2 | g.5693282G>A | CA424763353 | SOX11 | c.561G>A (p.Gln187=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693282G>C | CA345866971 | SOX11 | c.561G>C (p.Gln187His)
| dbSNP |
2 | g.5693282G= | CA1235660135 | SOX11 | c.561G= (p.Gln187=)
| |
2 | g.5693282G>T | CA345866972 | SOX11 | c.561G>T (p.Gln187His)
| gnomAD v4 |
2 | g.5693283T>A | CA345866973 | SOX11 | c.562T>A (p.Ser188Thr)
| |
2 | g.5693283T>C | CA345866974 | SOX11 | c.562T>C (p.Ser188Pro)
| ClinVar |
2 | g.5693283T>G | CA345866975 | SOX11 | c.562T>G (p.Ser188Ala)
| |
2 | g.5693284C>A | CA345866976 | SOX11 | c.563C>A (p.Ser188Tyr)
| gnomAD v4 |
2 | g.5693284C>G | CA345866977 | SOX11 | c.563C>G (p.Ser188Cys)
| |
2 | g.5693284C>T | CA345866978 | SOX11 | c.563C>T (p.Ser188Phe)
| gnomAD v4 |
2 | g.5693285C>A | CA424763357 | SOX11 | c.564C>A (p.Ser188=)
| gnomAD v4 |
2 | g.5693285C= | CA1235660139 | SOX11 | c.564C= (p.Ser188=)
| |
2 | g.5693285C>G | CA1517853 | SOX11 | c.564C>G (p.Ser188=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.5693285C>T | CA424763358 | SOX11 | c.564C>T (p.Ser188=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693286G>A | CA345866979 | SOX11 | c.565G>A (p.Gly189Arg)
| dbSNP gnomAD v4 |
2 | g.5693286G>C | CA345866980 | SOX11 | c.565G>C (p.Gly189Arg)
| |
2 | g.5693286G= | CA1235660144 | SOX11 | c.565G= (p.Gly189=)
| |
2 | g.5693286G>T | CA345866981 | SOX11 | c.565G>T (p.Gly189Trp)
| gnomAD v4 |
2 | g.5693289del | CA2657723938 | SOX11 | c.568del (p.Asp190ThrfsTer16)
| gnomAD v4 |
2 | g.5693287G>A | CA345866982 | SOX11 | c.566G>A (p.Gly189Glu)
| dbSNP |
2 | g.5693287G>C | CA345866983 | SOX11 | c.566G>C (p.Gly189Ala)
| gnomAD v4 |
2 | g.5693287G= | CA1235660147 | SOX11 | c.566G= (p.Gly189=)
| |
2 | g.5693287G>T | CA345866984 | SOX11 | c.566G>T (p.Gly189Val)
| gnomAD v4 |
2 | g.5693288G>A | CA424763361 | SOX11 | c.567G>A (p.Gly189=)
| gnomAD v4 |
2 | g.5693288G>C | CA424763363 | SOX11 | c.567G>C (p.Gly189=)
| |
2 | g.5693288G>T | CA424763364 | SOX11 | c.567G>T (p.Gly189=)
| gnomAD v4 |
2 | g.5693289G>A | CA345866985 | SOX11 | c.568G>A (p.Asp190Asn)
| |
2 | g.5693289G>C | CA345866986 | SOX11 | c.568G>C (p.Asp190His)
| |
2 | g.5693289G= | CA1235660150 | SOX11 | c.568G= (p.Asp190=)
| |
2 | g.5693289G>T | CA1517854 | SOX11 | c.568G>T (p.Asp190Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693290A>C | CA345866987 | SOX11 | c.569A>C (p.Asp190Ala)
| |
2 | g.5693290A>G | CA345866988 | SOX11 | c.569A>G (p.Asp190Gly)
| |
2 | g.5693290A>T | CA345866989 | SOX11 | c.569A>T (p.Asp190Val)
| |
2 | g.5693291C>A | CA345866990 | SOX11 | c.570C>A (p.Asp190Glu)
| gnomAD v4 |
2 | g.5693291C= | CA1235660152 | SOX11 | c.570C= (p.Asp190=)
| |
2 | g.5693291C>G | CA345866991 | SOX11 | c.570C>G (p.Asp190Glu)
| |
2 | g.5693291C>T | CA424763369 | SOX11 | c.570C>T (p.Asp190=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693292T>A | CA345866992 | SOX11 | c.571T>A (p.Tyr191Asn)
| |
2 | g.5693292T>C | CA345866993 | SOX11 | c.571T>C (p.Tyr191His)
| |
2 | g.5693292T>G | CA345866994 | SOX11 | c.571T>G (p.Tyr191Asp)
| |
2 | g.5693293A>C | CA345866995 | SOX11 | c.572A>C (p.Tyr191Ser)
| |
2 | g.5693293A>G | CA345866996 | SOX11 | c.572A>G (p.Tyr191Cys)
| gnomAD v4 |
2 | g.5693293A>T | CA345866997 | SOX11 | c.572A>T (p.Tyr191Phe)
| gnomAD v4 |
2 | g.5693294C>A | CA345866998 | SOX11 | c.573C>A (p.Tyr191Ter)
| gnomAD v4 |
2 | g.5693294C>G | CA345866999 | SOX11 | c.573C>G (p.Tyr191Ter)
| |
2 | g.5693294C>T | CA424763375 | SOX11 | c.573C>T (p.Tyr191=)
| gnomAD v4 COSMIC |
2 | g.5693295G>A | CA345867000 | SOX11 | c.574G>A (p.Gly192Arg)
| gnomAD v4 |
2 | g.5693295G>C | CA345867002 | SOX11 | c.574G>C (p.Gly192Arg)
| |
2 | g.5693295G>T | CA345867001 | SOX11 | c.574G>T (p.Gly192Trp)
| gnomAD v4 |
2 | g.5693299dup | CA2748721119 | SOX11 | c.578dup (p.Ala194ArgfsTer?)
| |
2 | g.5693299del | CA2657723939 | SOX11 | c.578del (p.Gly193AlafsTer13)
| gnomAD v4 |
2 | g.5693296G>A | CA345867003 | SOX11 | c.575G>A (p.Gly192Glu)
| |
2 | g.5693296G>C | CA345867004 | SOX11 | c.575G>C (p.Gly192Ala)
| |
2 | g.5693296G= | CA1235660154 | SOX11 | c.575G= (p.Gly192=)
| |
2 | g.5693296G>T | CA345867005 | SOX11 | c.575G>T (p.Gly192Val)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693297G>A | CA424763380 | SOX11 | c.576G>A (p.Gly192=)
| ClinVar dbSNP gnomAD v4 |
2 | g.5693297G>C | CA424763381 | SOX11 | c.576G>C (p.Gly192=)
| dbSNP gnomAD v2 |
2 | g.5693297G= | CA1235660157 | SOX11 | c.576G= (p.Gly192=)
| |
2 | g.5693297G>T | CA424763382 | SOX11 | c.576G>T (p.Gly192=)
| gnomAD v4 |
2 | g.5693298G>A | CA1517855 | SOX11 | c.577G>A (p.Gly193Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.5693298G>C | CA345867006 | SOX11 | c.577G>C (p.Gly193Arg)
| dbSNP |
2 | g.5693298G= | CA1235660160 | SOX11 | c.577G= (p.Gly193=)
| |
2 | g.5693298G>T | CA345867007 | SOX11 | c.577G>T (p.Gly193Cys)
| |
2 | g.5693299G>A | CA1517856 | SOX11 | c.578G>A (p.Gly193Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.5693299G>C | CA345867008 | SOX11 | c.578G>C (p.Gly193Ala)
| |
2 | g.5693299G= | CA1235660162 | SOX11 | c.578G= (p.Gly193=)
| |
2 | g.5693299G>T | CA345867009 | SOX11 | c.578G>T (p.Gly193Val)
| gnomAD v4 |
2 | g.5693300C>A | CA42006689 | SOX11 | c.579C>A (p.Gly193=)
| ClinVar dbSNP gnomAD v4 |
2 | g.5693300C= | CA1235660164 | SOX11 | c.579C= (p.Gly193=)
| |
2 | g.5693300C>G | CA424763388 | SOX11 | c.579C>G (p.Gly193=)
| |
2 | g.5693300C>T | CA424763389 | SOX11 | c.579C>T (p.Gly193=)
| gnomAD v4 |
2 | g.5693301G>A | CA345867010 | SOX11 | c.580G>A (p.Ala194Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.5693301G>C | CA345867012 | SOX11 | c.580G>C (p.Ala194Pro)
| gnomAD v4 |
2 | g.5693301G= | CA1235660167 | SOX11 | c.580G= (p.Ala194=)
| |
2 | g.5693301G>T | CA345867011 | SOX11 | c.580G>T (p.Ala194Ser)
| gnomAD v4 |
2 | g.5693302C>A | CA345867013 | SOX11 | c.581C>A (p.Ala194Glu)
| gnomAD v4 |
2 | g.5693302C>G | CA345867015 | SOX11 | c.581C>G (p.Ala194Gly)
| |
2 | g.5693302C>T | CA345867014 | SOX11 | c.581C>T (p.Ala194Val)
| gnomAD v4 COSMIC |
2 | g.5693303G>A | CA424763393 | SOX11 | c.582G>A (p.Ala194=)
| dbSNP gnomAD v4 |
2 | g.5693303G>C | CA424763395 | SOX11 | c.582G>C (p.Ala194=)
| gnomAD v4 |
2 | g.5693303G= | CA1235660170 | SOX11 | c.582G= (p.Ala194=)
| |
2 | g.5693303G>T | CA424763394 | SOX11 | c.582G>T (p.Ala194=)
| gnomAD v4 |
2 | g.5693304G>A | CA345867016 | SOX11 | c.583G>A (p.Gly195Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693304G>C | CA345867018 | SOX11 | c.583G>C (p.Gly195Arg)
| |
2 | g.5693304G= | CA1235660172 | SOX11 | c.583G= (p.Gly195=)
| |
2 | g.5693304G>T | CA345867017 | SOX11 | c.583G>T (p.Gly195Cys)
| dbSNP |
2 | g.5693305G>A | CA345867019 | SOX11 | c.584G>A (p.Gly195Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693305G>C | CA345867020 | SOX11 | c.584G>C (p.Gly195Ala)
| |
2 | g.5693305G= | CA1235660176 | SOX11 | c.584G= (p.Gly195=)
| |
2 | g.5693305G>T | CA345867021 | SOX11 | c.584G>T (p.Gly195Val)
| gnomAD v4 |
2 | g.5693306C>A | CA1517857 | SOX11 | c.585C>A (p.Gly195=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.5693306C= | CA1235660180 | SOX11 | c.585C= (p.Gly195=)
| |
2 | g.5693306C>G | CA424763401 | SOX11 | c.585C>G (p.Gly195=)
| gnomAD v4 |
2 | g.5693306C>T | CA424763402 | SOX11 | c.585C>T (p.Gly195=)
| gnomAD v4 |
2 | g.5693307G>A | CA1517858 | SOX11 | c.586G>A (p.Asp196Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.5693307G>C | CA345867022 | SOX11 | c.586G>C (p.Asp196His)
| gnomAD v4 |
2 | g.5693307G= | CA1235660185 | SOX11 | c.586G= (p.Asp196=)
| |
2 | g.5693307G>T | CA345867023 | SOX11 | c.586G>T (p.Asp196Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.5693308A>C | CA345867024 | SOX11 | c.587A>C (p.Asp196Ala)
| |
2 | g.5693308A>G | CA345867025 | SOX11 | c.587A>G (p.Asp196Gly)
| |
2 | g.5693308A>T | CA345867026 | SOX11 | c.587A>T (p.Asp196Val)
| |
2 | g.5693309C>A | CA1517859 | SOX11 | c.588C>A (p.Asp196Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693309C= | CA1235660187 | SOX11 | c.588C= (p.Asp196=)
| |
2 | g.5693309C>G | CA1517860 | SOX11 | c.588C>G (p.Asp196Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693309C>T | CA424763404 | SOX11 | c.588C>T (p.Asp196=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693310G>A | CA1517862 | SOX11 | c.589G>A (p.Asp197Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.5693310G>C | CA1517861 | SOX11 | c.589G>C (p.Asp197His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.5693310G= | CA1235660190 | SOX11 | c.589G= (p.Asp197=)
| |
2 | g.5693310G>T | CA345867027 | SOX11 | c.589G>T (p.Asp197Tyr)
| gnomAD v4 |
2 | g.5693311A>C | CA345867028 | SOX11 | c.590A>C (p.Asp197Ala)
| |
2 | g.5693311A>G | CA345867029 | SOX11 | c.590A>G (p.Asp197Gly)
| gnomAD v4 |
2 | g.5693311A>T | CA345867030 | SOX11 | c.590A>T (p.Asp197Val)
| |
2 | g.5693312C>A | CA345867031 | SOX11 | c.591C>A (p.Asp197Glu)
| |
2 | g.5693312C>G | CA345867032 | SOX11 | c.591C>G (p.Asp197Glu)
| |
2 | g.5693312C>T | CA424763406 | SOX11 | c.591C>T (p.Asp197=)
| |
2 | g.5693313T>A | CA345867033 | SOX11 | c.592T>A (p.Tyr198Asn)
| |
2 | g.5693313T>C | CA345867034 | SOX11 | c.592T>C (p.Tyr198His)
| gnomAD v4 |
2 | g.5693313T>G | CA345867035 | SOX11 | c.592T>G (p.Tyr198Asp)
| |
2 | g.5693314A= | CA1235660197 | SOX11 | c.593A= (p.Tyr198=)
| |
2 | g.5693314A>C | CA345867036 | SOX11 | c.593A>C (p.Tyr198Ser)
| |
2 | g.5693314A>G | CA1517863 | SOX11 | c.593A>G (p.Tyr198Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.5693314A>T | CA345867037 | SOX11 | c.593A>T (p.Tyr198Phe)
| |
2 | g.5693315C>A | CA16042463 | SOX11 | c.594C>A (p.Tyr198Ter)
| ClinVar dbSNP |
2 | g.5693315C= | CA1235660203 | SOX11 | c.594C= (p.Tyr198=)
| |
2 | g.5693315C>G | CA345867038 | SOX11 | c.594C>G (p.Tyr198Ter)
| |
2 | g.5693315C>T | CA424762816 | SOX11 | c.594C>T (p.Tyr198=)
| gnomAD v4 |