Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.73196501dup | CA774876099 | COG1 | c.316-6dup (n.316-6dup) c.314-6dup c.307dup | dbSNP gnomAD v4 |
17 | g.73196501C>A | CA2639622967 | COG1 | c.316-6C>A (n.316-6C>A) c.314-6C>A c.307C>A | gnomAD v4 |
17 | g.73196501C= | CA2274431917 | COG1 | c.316-6C= (n.316-6C=) c.314-6C= c.307C= | |
17 | g.73196501C>G | CA2639622968 | COG1 | c.316-6C>G (n.316-6C>G) c.314-6C>G c.307C>G | gnomAD v4 |
17 | g.73196501C>T | CA8739934 | COG1 | c.316-6C>T (n.316-6C>T) c.314-6C>T c.307C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196502T>A | CA8739935 | COG1 | c.316-5T>A (n.316-5T>A) c.314-5T>A c.308T>A | dbSNP ExAC gnomAD v2 |
17 | g.73196502T= | CA2274431918 | COG1 | c.316-5T= (n.316-5T=) c.314-5T= c.308T= | |
17 | g.73196503G>C | CA2274431920 | COG1 | c.316-4G>C (n.316-4G>C) c.314-4G>C c.309G>C | dbSNP gnomAD v4 |
17 | g.73196503G= | CA2274431919 | COG1 | c.316-4G= (n.316-4G=) c.314-4G= c.309G= | |
17 | g.73196504C= | CA2274431921 | COG1 | c.316-3C= (n.316-3C=) c.314-3C= c.310C= | |
17 | g.73196504C>T | CA8739936 | COG1 | c.316-3C>T (n.316-3C>T) c.314-3C>T c.310C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196505A>C | CA400882755 | COG1 | c.316-2A>C (n.316-2A>C) c.314-2A>C c.311A>C | |
17 | g.73196505A>G | CA400882756 | COG1 | c.316-2A>G (n.316-2A>G) c.314-2A>G c.311A>G | |
17 | g.73196505A>T | CA400882757 | COG1 | c.316-2A>T (n.316-2A>T) c.314-2A>T c.311A>T | |
17 | g.73196506G>A | CA400882758 | COG1 | c.316-1G>A (n.316-1G>A) c.314-1G>A c.312G>A | |
17 | g.73196506G>C | CA400882759 | COG1 | c.316-1G>C (n.316-1G>C) c.314-1G>C c.312G>C | |
17 | g.73196506G>T | CA400882760 | COG1 | c.316-1G>T (n.316-1G>T) c.314-1G>T c.312G>T | |
17 | g.73196507C>A | CA400882761 | COG1 | c.316C>A (p.Pro106Thr) c.314C>A c.313C>A | |
17 | g.73196507C>G | CA400882762 | COG1 | c.316C>G (p.Pro106Ala) c.314C>G c.313C>G | |
17 | g.73196507C>T | CA400882763 | COG1 | c.316C>T (p.Pro106Ser) c.314C>T c.313C>T | |
17 | g.73196508C>A | CA400882765 | COG1 | c.317C>A (p.Pro106Gln) c.315C>A c.314C>A | |
17 | g.73196508C= | CA2274431922 | COG1 | c.317C= (p.Pro106=) c.315C= c.314C= | |
17 | g.73196508C>G | CA400882764 | COG1 | c.317C>G (p.Pro106Arg) c.315C>G c.314C>G | |
17 | g.73196508C>T | CA8739937 | COG1 | c.317C>T (p.Pro106Leu) c.315C>T c.314C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196509A>C | CA502026158 | COG1 | c.318A>C (p.Pro106=) c.316A>C c.315A>C | |
17 | g.73196509A>G | CA502026159 | COG1 | c.318A>G (p.Pro106=) c.316A>G c.315A>G | |
17 | g.73196509A>T | CA502026160 | COG1 | c.318A>T (p.Pro106=) c.316A>T c.315A>T | |
17 | g.73196510C>A | CA400882766 | COG1 | c.319C>A (p.Gln107Lys) c.317C>A c.316C>A | |
17 | g.73196510C>G | CA400882767 | COG1 | c.319C>G (p.Gln107Glu) c.317C>G c.316C>G | |
17 | g.73196510C>T | CA400882768 | COG1 | c.319C>T (p.Gln107Ter) c.317C>T c.316C>T | |
17 | g.73196511A= | CA2274431923 | COG1 | c.320A= (p.Gln107=) c.318A= c.317A= | |
17 | g.73196511A>C | CA400882769 | COG1 | c.320A>C (p.Gln107Pro) c.318A>C c.317A>C | |
17 | g.73196511A>G | CA8739938 | COG1 | c.320A>G (p.Gln107Arg) c.318A>G c.317A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196511A>T | CA400882770 | COG1 | c.320A>T (p.Gln107Leu) c.318A>T c.317A>T | |
17 | g.73196512G>A | CA502026165 | COG1 | c.321G>A (p.Gln107=) c.319G>A c.318G>A | |
17 | g.73196512G>C | CA400882771 | COG1 | c.321G>C (p.Gln107His) c.319G>C c.318G>C | |
17 | g.73196512G>T | CA400882772 | COG1 | c.321G>T (p.Gln107His) c.319G>T c.318G>T | |
17 | g.73196513C>A | CA400882773 | COG1 | c.322C>A (p.Gln108Lys) c.320C>A c.319C>A | |
17 | g.73196513C>G | CA400882774 | COG1 | c.322C>G (p.Gln108Glu) c.320C>G c.319C>G | |
17 | g.73196513C>T | CA400882775 | COG1 | c.322C>T (p.Gln108Ter) c.320C>T c.319C>T | gnomAD v4 |
17 | g.73196514A>C | CA400882778 | COG1 | c.323A>C (p.Gln108Pro) c.321A>C c.320A>C | |
17 | g.73196514A>G | CA400882777 | COG1 | c.323A>G (p.Gln108Arg) c.321A>G c.320A>G | |
17 | g.73196514A>T | CA400882776 | COG1 | c.323A>T (p.Gln108Leu) c.321A>T c.320A>T | |
17 | g.73196515G>A | CA502026167 | COG1 | c.324G>A (p.Gln108=) c.322G>A c.321G>A | |
17 | g.73196515G>C | CA400882779 | COG1 | c.324G>C (p.Gln108His) c.322G>C c.321G>C | |
17 | g.73196515G>T | CA400882780 | COG1 | c.324G>T (p.Gln108His) c.322G>T c.321G>T | |
17 | g.73196516C>A | CA400882781 | COG1 | c.325C>A (p.Pro109Thr) c.323C>A c.322C>A | |
17 | g.73196516C>G | CA400882782 | COG1 | c.325C>G (p.Pro109Ala) c.323C>G c.322C>G | |
17 | g.73196516C>T | CA400882783 | COG1 | c.325C>T (p.Pro109Ser) c.323C>T c.322C>T | |
17 | g.73196517C>A | CA400882786 | COG1 | c.326C>A (p.Pro109Gln) c.324C>A c.323C>A | |
17 | g.73196517C>G | CA400882785 | COG1 | c.326C>G (p.Pro109Arg) c.324C>G c.323C>G | |
17 | g.73196517C>T | CA400882784 | COG1 | c.326C>T (p.Pro109Leu) c.324C>T c.323C>T | |
17 | g.73196518A= | CA2274431924 | COG1 | c.327A= (p.Pro109=) c.325A= c.324A= | |
17 | g.73196518A>C | CA502026172 | COG1 | c.327A>C (p.Pro109=) c.325A>C c.324A>C | |
17 | g.73196518A>G | CA293799265 | COG1 | c.327A>G (p.Pro109=) c.325A>G c.324A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196518A>T | CA502026171 | COG1 | c.327A>T (p.Pro109=) c.325A>T c.324A>T | |
17 | g.73196519T>A | CA400882787 | COG1 | c.328T>A (p.Ser110Thr) c.326T>A c.325T>A | gnomAD v4 |
17 | g.73196519T>C | CA400882788 | COG1 | c.328T>C (p.Ser110Pro) c.326T>C c.325T>C | |
17 | g.73196519T>G | CA400882789 | COG1 | c.328T>G (p.Ser110Ala) c.326T>G c.325T>G | |
17 | g.73196520C>A | CA400882791 | COG1 | c.329C>A (p.Ser110Tyr) c.327C>A c.326C>A | |
17 | g.73196520C= | CA2274431925 | COG1 | c.329C= (p.Ser110=) c.327C= c.326C= | |
17 | g.73196520C>G | CA400882793 | COG1 | c.329C>G (p.Ser110Cys) c.327C>G c.326C>G | |
17 | g.73196520C>T | CA8739939 | COG1 | c.329C>T (p.Ser110Phe) c.327C>T c.326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196521C>A | CA502026176 | COG1 | c.330C>A (p.Ser110=) c.328C>A c.327C>A | COSMIC |
17 | g.73196521C= | CA2274431926 | COG1 | c.330C= (p.Ser110=) c.328C= c.327C= | |
17 | g.73196521C>G | CA502026177 | COG1 | c.330C>G (p.Ser110=) c.328C>G c.327C>G | |
17 | g.73196521C>T | CA502026178 | COG1 | c.330C>T (p.Ser110=) c.328C>T c.327C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196522C>A | CA400882797 | COG1 | c.331C>A (p.Gln111Lys) c.329C>A c.328C>A | dbSNP |
17 | g.73196522C= | CA2274431928 | COG1 | c.331C= (p.Gln111=) c.329C= c.328C= | |
17 | g.73196522C>G | CA400882800 | COG1 | c.331C>G (p.Gln111Glu) c.329C>G c.328C>G | |
17 | g.73196522C>T | CA400882799 | COG1 | c.331C>T (p.Gln111Ter) c.329C>T c.328C>T | |
17 | g.73196522_73196525delinsCAGG | CA2274431927 | COG1 | c.331_334delinsCAGG (p.Gln111=) c.329_332delinsCAGG c.328_331delinsCAGG | |
17 | g.73196523A>C | CA400882803 | COG1 | c.332A>C (p.Gln111Pro) c.330A>C c.329A>C | gnomAD v4 |
17 | g.73196523A>G | CA400882805 | COG1 | c.332A>G (p.Gln111Arg) c.330A>G c.329A>G | |
17 | g.73196523A>T | CA400882806 | COG1 | c.332A>T (p.Gln111Leu) c.330A>T c.329A>T | |
17 | g.73196523_73196525delinsAGG | CA2274431929 | COG1 | c.332_334delinsAGG (p.Gln111=) c.330_332delinsAGG c.329_331delinsAGG | |
17 | g.73196525_73196527del | CA8739940 | COG1 | c.334_336del (p.Glu112del) c.332_334del c.331_333del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196524G>A | CA149037 | COG1 | c.333G>A (p.Gln111=) c.331G>A c.330G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196524G>C | CA400882810 | COG1 | c.333G>C (p.Gln111His) c.331G>C c.330G>C | |
17 | g.73196524G= | CA2274431931 | COG1 | c.333G= (p.Gln111=) c.331G= c.330G= | |
17 | g.73196524G>T | CA400882811 | COG1 | c.333G>T (p.Gln111His) c.331G>T c.330G>T | dbSNP |
17 | g.73196524_73196525del | CA2274431930 | COG1 | c.333_334del (p.Lys113ValfsTer?) c.331_332del c.330_331del | dbSNP gnomAD v4 |
17 | g.73196525G>A | CA400882812 | COG1 | c.334G>A (p.Glu112Lys) c.332G>A c.331G>A | |
17 | g.73196525G>C | CA400882814 | COG1 | c.334G>C (p.Glu112Gln) c.332G>C c.331G>C | dbSNP gnomAD v4 |
17 | g.73196525G= | CA2274431932 | COG1 | c.334G= (p.Glu112=) c.332G= c.331G= | |
17 | g.73196525G>T | CA400882816 | COG1 | c.334G>T (p.Glu112Ter) c.332G>T c.331G>T | |
17 | g.73196526A= | CA2274431933 | COG1 | c.335A= (p.Glu112=) c.333A= c.332A= | |
17 | g.73196526A>C | CA400882821 | COG1 | c.335A>C (p.Glu112Ala) c.333A>C c.332A>C | |
17 | g.73196526A>G | CA400882819 | COG1 | c.335A>G (p.Glu112Gly) c.333A>G c.332A>G | dbSNP |
17 | g.73196526A>T | CA400882818 | COG1 | c.335A>T (p.Glu112Val) c.333A>T c.332A>T | |
17 | g.73196527G>A | CA502026184 | COG1 | c.336G>A (p.Glu112=) c.334G>A c.333G>A | |
17 | g.73196527G>C | CA400882823 | COG1 | c.336G>C (p.Glu112Asp) c.334G>C c.333G>C | |
17 | g.73196527G>T | CA400882825 | COG1 | c.336G>T (p.Glu112Asp) c.334G>T c.333G>T | |
17 | g.73196527_73196528delinsGA | CA2274431934 | COG1 | c.336_337delinsGA (p.Glu112=) c.334_335delinsGA c.333_334delinsGA | |
17 | g.73196528A>C | CA400882828 | COG1 | c.337A>C (p.Lys113Gln) c.335A>C c.334A>C | |
17 | g.73196528A>G | CA400882832 | COG1 | c.337A>G (p.Lys113Glu) c.335A>G c.334A>G | |
17 | g.73196528A>T | CA400882830 | COG1 | c.337A>T (p.Lys113Ter) c.335A>T c.334A>T | |
17 | g.73196529del | CA2274431935 | COG1 | c.338del (p.Lys113SerfsTer13) c.336del c.335del | dbSNP gnomAD v4 |
17 | g.73196529A= | CA2274431936 | COG1 | c.338A= (p.Lys113=) c.336A= c.335A= | |
17 | g.73196529A>C | CA400882834 | COG1 | c.338A>C (p.Lys113Thr) c.336A>C c.335A>C | |
17 | g.73196529A>G | CA400882835 | COG1 | c.338A>G (p.Lys113Arg) c.336A>G c.335A>G | dbSNP |
17 | g.73196529A>T | CA400882836 | COG1 | c.338A>T (p.Lys113Met) c.336A>T c.335A>T | |
17 | g.73196530G>A | CA502026188 | COG1 | c.339G>A (p.Lys113=) c.337G>A c.336G>A | |
17 | g.73196530G>C | CA400882839 | COG1 | c.339G>C (p.Lys113Asn) c.337G>C c.336G>C | |
17 | g.73196530G>T | CA400882841 | COG1 | c.339G>T (p.Lys113Asn) c.337G>T c.336G>T | |
17 | g.73196531T>A | CA293799274 | COG1 | c.340T>A (p.Phe114Ile) c.338T>A c.337T>A | dbSNP gnomAD v4 |
17 | g.73196531T>C | CA400882844 | COG1 | c.340T>C (p.Phe114Leu) c.338T>C c.337T>C | |
17 | g.73196531T>G | CA400882846 | COG1 | c.340T>G (p.Phe114Val) c.338T>G c.337T>G | |
17 | g.73196531T= | CA2274431937 | COG1 | c.340T= (p.Phe114=) c.338T= c.337T= | |
17 | g.73196532T>A | CA400882848 | COG1 | c.341T>A (p.Phe114Tyr) c.339T>A c.338T>A | |
17 | g.73196532T>C | CA400882850 | COG1 | c.341T>C (p.Phe114Ser) c.339T>C c.338T>C | |
17 | g.73196532T>G | CA400882852 | COG1 | c.341T>G (p.Phe114Cys) c.339T>G c.338T>G | |
17 | g.73196533C>A | CA400882855 | COG1 | c.342C>A (p.Phe114Leu) c.340C>A c.339C>A | |
17 | g.73196533C>G | CA400882853 | COG1 | c.342C>G (p.Phe114Leu) c.340C>G c.339C>G | COSMIC |
17 | g.73196533C>T | CA502026191 | COG1 | c.342C>T (p.Phe114=) c.340C>T c.339C>T | |
17 | g.73196534T>A | CA400882856 | COG1 | c.343T>A (p.Tyr115Asn) c.341T>A c.340T>A | |
17 | g.73196534T>C | CA400882857 | COG1 | c.343T>C (p.Tyr115His) c.341T>C c.340T>C | |
17 | g.73196534T>G | CA400882859 | COG1 | c.343T>G (p.Tyr115Asp) c.341T>G c.340T>G | |
17 | g.73196535A= | CA2274431938 | COG1 | c.344A= (p.Tyr115=) c.342A= c.341A= | |
17 | g.73196535A>C | CA400882861 | COG1 | c.344A>C (p.Tyr115Ser) c.342A>C c.341A>C | |
17 | g.73196535A>G | CA8739941 | COG1 | c.344A>G (p.Tyr115Cys) c.342A>G c.341A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196535A>T | CA400882864 | COG1 | c.344A>T (p.Tyr115Phe) c.342A>T c.341A>T | |
17 | g.73196536C>A | CA400882866 | COG1 | c.345C>A (p.Tyr115Ter) c.343C>A c.342C>A | |
17 | g.73196536C= | CA2274431939 | COG1 | c.345C= (p.Tyr115=) c.343C= c.342C= | |
17 | g.73196536C>G | CA400882868 | COG1 | c.345C>G (p.Tyr115Ter) c.343C>G c.342C>G | |
17 | g.73196536C>T | CA502026194 | COG1 | c.345C>T (p.Tyr115=) c.343C>T c.342C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196537A= | CA2274431940 | COG1 | c.346A= (p.Ser116=) c.344A= c.343A= | |
17 | g.73196537A>C | CA400882870 | COG1 | c.346A>C (p.Ser116Arg) c.344A>C c.343A>C | |
17 | g.73196537A>G | CA400882872 | COG1 | c.346A>G (p.Ser116Gly) c.344A>G c.343A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196537A>T | CA400882874 | COG1 | c.346A>T (p.Ser116Cys) c.344A>T c.343A>T | |
17 | g.73196538G>A | CA400882877 | COG1 | c.347G>A (p.Ser116Asn) c.345G>A c.344G>A | |
17 | g.73196538G>C | CA400882878 | COG1 | c.347G>C (p.Ser116Thr) c.345G>C c.344G>C | |
17 | g.73196538G>T | CA400882876 | COG1 | c.347G>T (p.Ser116Ile) c.345G>T c.344G>T | |
17 | g.73196539C>A | CA400882880 | COG1 | c.348C>A (p.Ser116Arg) c.346C>A c.345C>A | |
17 | g.73196539C>G | CA400882882 | COG1 | c.348C>G (p.Ser116Arg) c.346C>G c.345C>G | |
17 | g.73196539C>T | CA502026198 | COG1 | c.348C>T (p.Ser116=) c.346C>T c.345C>T | gnomAD v4 |
17 | g.73196540A>C | CA400882885 | COG1 | c.349A>C (p.Met117Leu) c.347A>C c.346A>C | |
17 | g.73196540A>G | CA400882886 | COG1 | c.349A>G (p.Met117Val) c.347A>G c.346A>G | |
17 | g.73196540A>T | CA400882888 | COG1 | c.349A>T (p.Met117Leu) c.347A>T c.346A>T | |
17 | g.73196541T>A | CA400882894 | COG1 | c.350T>A (p.Met117Lys) c.348T>A c.347T>A | |
17 | g.73196541T>C | CA400882892 | COG1 | c.350T>C (p.Met117Thr) c.348T>C c.347T>C | |
17 | g.73196541T>G | CA400882891 | COG1 | c.350T>G (p.Met117Arg) c.348T>G c.347T>G | gnomAD v4 |
17 | g.73196542G>A | CA293799276 | COG1 | c.351G>A (p.Met117Ile) c.349G>A c.348G>A | dbSNP gnomAD v4 |
17 | g.73196542G>C | CA400882895 | COG1 | c.351G>C (p.Met117Ile) c.349G>C c.348G>C | |
17 | g.73196542G= | CA2274431941 | COG1 | c.351G= (p.Met117=) c.349G= c.348G= | |
17 | g.73196542G>T | CA400882897 | COG1 | c.351G>T (p.Met117Ile) c.349G>T c.348G>T | |
17 | g.73196543G>A | CA400882899 | COG1 | c.352G>A (p.Ala118Thr) c.350G>A c.349G>A | |
17 | g.73196543G>C | CA400882901 | COG1 | c.352G>C (p.Ala118Pro) c.350G>C c.349G>C | |
17 | g.73196543G= | CA2274431942 | COG1 | c.352G= (p.Ala118=) c.350G= c.349G= | |
17 | g.73196543G>T | CA8739942 | COG1 | c.352G>T (p.Ala118Ser) c.350G>T c.349G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196544C>A | CA400882905 | COG1 | c.353C>A (p.Ala118Asp) c.351C>A c.350C>A | |
17 | g.73196544C>G | CA400882908 | COG1 | c.353C>G (p.Ala118Gly) c.351C>G c.350C>G | |
17 | g.73196544C>T | CA400882906 | COG1 | c.353C>T (p.Ala118Val) c.351C>T c.350C>T | |
17 | g.73196545T>A | CA502026205 | COG1 | c.354T>A (p.Ala118=) c.352T>A c.351T>A | |
17 | g.73196545T>C | CA502026206 | COG1 | c.354T>C (p.Ala118=) c.352T>C c.351T>C | |
17 | g.73196545T>G | CA502026207 | COG1 | c.354T>G (p.Ala118=) c.352T>G c.351T>G | |
17 | g.73196546G>A | CA293799305 | COG1 | c.355G>A (p.Ala119Thr) c.353G>A c.352G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196546G>C | CA400882911 | COG1 | c.355G>C (p.Ala119Pro) c.353G>C c.352G>C | gnomAD v4 |
17 | g.73196546G= | CA2274431943 | COG1 | c.355G= (p.Ala119=) c.353G= c.352G= | |
17 | g.73196546G>T | CA400882913 | COG1 | c.355G>T (p.Ala119Ser) c.353G>T c.352G>T | |
17 | g.73196547C>A | CA400882915 | COG1 | c.356C>A (p.Ala119Asp) c.354C>A c.353C>A | |
17 | g.73196547C= | CA2274431944 | COG1 | c.356C= (p.Ala119=) c.354C= c.353C= | |
17 | g.73196547C>G | CA400882916 | COG1 | c.356C>G (p.Ala119Gly) c.354C>G c.353C>G | |
17 | g.73196547C>T | CA8739943 | COG1 | c.356C>T (p.Ala119Val) c.354C>T c.353C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196548C>A | CA502026211 | COG1 | c.357C>A (p.Ala119=) c.355C>A c.354C>A | gnomAD v4 |
17 | g.73196548C>G | CA502026212 | COG1 | c.357C>G (p.Ala119=) c.355C>G c.354C>G | |
17 | g.73196548C>T | CA502026213 | COG1 | c.357C>T (p.Ala119=) c.355C>T c.354C>T | |
17 | g.73196549C>A | CA400882919 | COG1 | c.358C>A (p.Gln120Lys) c.356C>A c.355C>A | |
17 | g.73196549C>G | CA400882921 | COG1 | c.358C>G (p.Gln120Glu) c.356C>G c.355C>G | |
17 | g.73196549C>T | CA400882923 | COG1 | c.358C>T (p.Gln120Ter) c.356C>T c.355C>T | |
17 | g.73196550A>C | CA400882925 | COG1 | c.359A>C (p.Gln120Pro) c.357A>C c.356A>C | gnomAD v4 |
17 | g.73196550A>G | CA400882927 | COG1 | c.359A>G (p.Gln120Arg) c.357A>G c.356A>G | |
17 | g.73196550A>T | CA400882929 | COG1 | c.359A>T (p.Gln120Leu) c.357A>T c.356A>T | |
17 | g.73196551G>A | CA502026215 | COG1 | c.360G>A (p.Gln120=) c.358G>A c.357G>A | gnomAD v4 |
17 | g.73196551G>C | CA400882933 | COG1 | c.360G>C (p.Gln120His) c.358G>C c.357G>C | |
17 | g.73196551G>T | CA400882931 | COG1 | c.360G>T (p.Gln120His) c.358G>T c.357G>T | |
17 | g.73196552A= | CA2274431945 | COG1 | c.361A= (p.Ile121=) c.359A= c.358A= | |
17 | g.73196552A>C | CA400882936 | COG1 | c.361A>C (p.Ile121Leu) c.359A>C c.358A>C | |
17 | g.73196552A>G | CA400882942 | COG1 | c.361A>G (p.Ile121Val) c.359A>G c.358A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196552A>T | CA400882940 | COG1 | c.361A>T (p.Ile121Phe) c.359A>T c.358A>T | |
17 | g.73196553T>A | CA400882945 | COG1 | c.362T>A (p.Ile121Asn) c.360T>A c.359T>A | |
17 | g.73196553T>C | CA400882946 | COG1 | c.362T>C (p.Ile121Thr) c.360T>C c.359T>C | |
17 | g.73196553T>G | CA400882948 | COG1 | c.362T>G (p.Ile121Ser) c.360T>G c.359T>G | |
17 | g.73196554C>A | CA502026218 | COG1 | c.363C>A (p.Ile121=) c.361C>A c.360C>A | |
17 | g.73196554C= | CA2274431946 | COG1 | c.363C= (p.Ile121=) c.361C= c.360C= | |
17 | g.73196554C>G | CA8739944 | COG1 | c.363C>G (p.Ile121Met) c.361C>G c.360C>G | dbSNP ExAC gnomAD v2 |
17 | g.73196554C>T | CA502026219 | COG1 | c.363C>T (p.Ile121=) c.361C>T c.360C>T | |
17 | g.73196555A>C | CA400882952 | COG1 | c.364A>C (p.Lys122Gln) c.362A>C c.361A>C | |
17 | g.73196555A>G | CA400882956 | COG1 | c.364A>G (p.Lys122Glu) c.362A>G c.361A>G | |
17 | g.73196555A>T | CA400882958 | COG1 | c.364A>T (p.Lys122Ter) c.362A>T c.361A>T | |
17 | g.73196556del | CA2639623013 | COG1 | c.365del (p.Lys122SerfsTer4) c.363del c.362del | gnomAD v4 |
17 | g.73196556A>C | CA400882961 | COG1 | c.365A>C (p.Lys122Thr) c.363A>C c.362A>C | |
17 | g.73196556A>G | CA400882963 | COG1 | c.365A>G (p.Lys122Arg) c.363A>G c.362A>G | |
17 | g.73196556A>T | CA400882966 | COG1 | c.365A>T (p.Lys122Met) c.363A>T c.362A>T | |
17 | g.73196557G>A | CA502026222 | COG1 | c.366G>A (p.Lys122=) c.364G>A c.363G>A | |
17 | g.73196557G>C | CA400882969 | COG1 | c.366G>C (p.Lys122Asn) c.364G>C c.363G>C | |
17 | g.73196557G= | CA2274431947 | COG1 | c.366G= (p.Lys122=) c.364G= c.363G= | |
17 | g.73196557G>T | CA400882970 | COG1 | c.366G>T (p.Lys122Asn) c.364G>T c.363G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196558C>A | CA400882973 | COG1 | c.367C>A (p.Leu123Ile) c.365C>A c.364C>A | |
17 | g.73196558C= | CA2274431948 | COG1 | c.367C= (p.Leu123=) c.365C= c.364C= | |
17 | g.73196558C>G | CA8739945 | COG1 | c.367C>G (p.Leu123Val) c.365C>G c.364C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196558C>T | CA502026224 | COG1 | c.367C>T (p.Leu123=) c.365C>T c.364C>T | |
17 | g.73196559T>A | CA400882975 | COG1 | c.368T>A (p.Leu123Gln) c.366T>A c.365T>A | |
17 | g.73196559T>C | CA400882977 | COG1 | c.368T>C (p.Leu123Pro) c.366T>C c.365T>C | |
17 | g.73196559T>G | CA400882980 | COG1 | c.368T>G (p.Leu123Arg) c.366T>G c.365T>G | |
17 | g.73196560A>C | CA502026227 | COG1 | c.369A>C (p.Leu123=) c.367A>C c.366A>C | |
17 | g.73196560A>G | CA502026229 | COG1 | c.369A>G (p.Leu123=) c.367A>G c.366A>G | |
17 | g.73196560A>T | CA502026228 | COG1 | c.369A>T (p.Leu123=) c.367A>T c.366A>T | |
17 | g.73196561C>A | CA400882983 | COG1 | c.370C>A (p.Leu124Ile) c.368C>A c.367C>A | |
17 | g.73196561C= | CA2274431949 | COG1 | c.370C= (p.Leu124=) c.368C= c.367C= | |
17 | g.73196561C>G | CA400882985 | COG1 | c.370C>G (p.Leu124Val) c.368C>G c.367C>G | dbSNP |
17 | g.73196561C>T | CA400882986 | COG1 | c.370C>T (p.Leu124Phe) c.368C>T c.367C>T | |
17 | g.73196562T>A | CA400882991 | COG1 | c.371T>A (p.Leu124His) c.369T>A c.368T>A | |
17 | g.73196562T>C | CA400882988 | COG1 | c.371T>C (p.Leu124Pro) c.369T>C c.368T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196562T>G | CA400882990 | COG1 | c.371T>G (p.Leu124Arg) c.369T>G c.368T>G | |
17 | g.73196562T= | CA2274431950 | COG1 | c.371T= (p.Leu124=) c.369T= c.368T= | |
17 | g.73196563C>A | CA8739947 | COG1 | c.372C>A (p.Leu124=) c.370C>A c.369C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196563C= | CA2274431951 | COG1 | c.372C= (p.Leu124=) c.370C= c.369C= | |
17 | g.73196563C>G | CA8739946 | COG1 | c.372C>G (p.Leu124=) c.370C>G c.369C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196563C>T | CA502026233 | COG1 | c.372C>T (p.Leu124=) c.370C>T c.369C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196564T>A | CA400882994 | COG1 | c.373T>A (p.Leu125Ile) c.371T>A c.370T>A | |
17 | g.73196564T>C | CA293799331 | COG1 | c.373T>C (p.Leu125=) c.371T>C c.370T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196564T>G | CA400882996 | COG1 | c.373T>G (p.Leu125Val) c.371T>G c.370T>G | gnomAD v4 |
17 | g.73196564T= | CA2274431952 | COG1 | c.373T= (p.Leu125=) c.371T= c.370T= | |
17 | g.73196565T>A | CA8739948 | COG1 | c.374T>A (p.Leu125Ter) c.372T>A c.371T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196565T>C | CA400883000 | COG1 | c.374T>C (p.Leu125Ser) c.372T>C c.371T>C | gnomAD v4 |
17 | g.73196565T>G | CA400882998 | COG1 | c.374T>G (p.Leu125Ter) c.372T>G c.371T>G | |
17 | g.73196565T= | CA2274431953 | COG1 | c.374T= (p.Leu125=) c.372T= c.371T= | |
17 | g.73196566A>C | CA400883002 | COG1 | c.375A>C (p.Leu125Phe) c.373A>C c.372A>C | |
17 | g.73196566A>G | CA502026237 | COG1 | c.375A>G (p.Leu125=) c.373A>G c.372A>G | |
17 | g.73196566A>T | CA400883004 | COG1 | c.375A>T (p.Leu125Phe) c.373A>T c.372A>T | |
17 | g.73196567G>A | CA400883006 | COG1 | c.376G>A (p.Glu126Lys) c.374G>A c.373G>A | |
17 | g.73196567G>C | CA400883008 | COG1 | c.376G>C (p.Glu126Gln) c.374G>C c.373G>C | |
17 | g.73196567G= | CA2274431954 | COG1 | c.376G= (p.Glu126=) c.374G= c.373G= | |
17 | g.73196567G>T | CA400883010 | COG1 | c.376G>T (p.Glu126Ter) c.374G>T c.373G>T | dbSNP gnomAD v4 |
17 | g.73196568A>C | CA400883012 | COG1 | c.377A>C (p.Glu126Ala) c.375A>C c.374A>C | |
17 | g.73196568A>G | CA400883014 | COG1 | c.377A>G (p.Glu126Gly) c.375A>G c.374A>G | |
17 | g.73196568A>T | CA400883015 | COG1 | c.377A>T (p.Glu126Val) c.375A>T c.374A>T | |
17 | g.73196569A= | CA2274431955 | COG1 | c.378A= (p.Glu126=) c.376A= c.375A= | |
17 | g.73196569A>C | CA400883018 | COG1 | c.378A>C (p.Glu126Asp) c.376A>C c.375A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196569A>G | CA502026239 | COG1 | c.378A>G (p.Glu126=) c.376A>G c.375A>G | |
17 | g.73196569A>T | CA400883020 | COG1 | c.378A>T (p.Glu126Asp) c.376A>T c.375A>T | |
17 | g.73196570A>C | CA400883022 | COG1 | c.379A>C (p.Ile127Leu) c.377A>C c.376A>C | |
17 | g.73196570A>G | CA400883024 | COG1 | c.379A>G (p.Ile127Val) c.377A>G c.376A>G | |
17 | g.73196570A>T | CA400883026 | COG1 | c.379A>T (p.Ile127Phe) c.377A>T c.376A>T | |
17 | g.73196571T>A | CA400883034 | COG1 | c.380T>A (p.Ile127Asn) c.378T>A c.377T>A | COSMIC |
17 | g.73196571T>C | CA400883029 | COG1 | c.380T>C (p.Ile127Thr) c.378T>C c.377T>C | gnomAD v4 |
17 | g.73196571T>G | CA400883031 | COG1 | c.380T>G (p.Ile127Ser) c.378T>G c.377T>G | |
17 | g.73196572T>A | CA502026243 | COG1 | c.381T>A (p.Ile127=) c.379T>A c.378T>A | |
17 | g.73196572T>C | CA502026244 | COG1 | c.381T>C (p.Ile127=) c.379T>C c.378T>C | |
17 | g.73196572T>G | CA400883036 | COG1 | c.381T>G (p.Ile127Met) c.379T>G c.378T>G | |
17 | g.73196573C>A | CA400883039 | COG1 | c.382C>A (p.Pro128Thr) c.380C>A c.379C>A | |
17 | g.73196573C>G | CA400883040 | COG1 | c.382C>G (p.Pro128Ala) c.380C>G c.379C>G | |
17 | g.73196573C>T | CA400883042 | COG1 | c.382C>T (p.Pro128Ser) c.380C>T c.379C>T | |
17 | g.73196574C>A | CA400883045 | COG1 | c.383C>A (p.Pro128Gln) c.381C>A c.380C>A | |
17 | g.73196574C= | CA2274431956 | COG1 | c.383C= (p.Pro128=) c.381C= c.380C= | |
17 | g.73196574C>G | CA400883046 | COG1 | c.383C>G (p.Pro128Arg) c.381C>G c.380C>G | |
17 | g.73196574C>T | CA8739949 | COG1 | c.383C>T (p.Pro128Leu) c.381C>T c.380C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.73196575G>A | CA8739950 | COG1 | c.384G>A (p.Pro128=) c.382G>A c.381G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196575G>C | CA502026248 | COG1 | c.384G>C (p.Pro128=) c.382G>C c.381G>C | |
17 | g.73196575G= | CA2274431957 | COG1 | c.384G= (p.Pro128=) c.382G= c.381G= | |
17 | g.73196575G>T | CA502026247 | COG1 | c.384G>T (p.Pro128=) c.382G>T c.381G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196579_73196589del | CA2639623035 | COG1 | c.388_398del (p.Lys130LeufsTer30) c.386_396del c.385_395del | gnomAD v4 |
17 | g.73196576G>A | CA400883052 | COG1 | c.385G>A (p.Glu129Lys) c.383G>A c.382G>A | |
17 | g.73196576G>C | CA400883053 | COG1 | c.385G>C (p.Glu129Gln) c.383G>C c.382G>C | |
17 | g.73196576G>T | CA400883056 | COG1 | c.385G>T (p.Glu129Ter) c.383G>T c.382G>T | |
17 | g.73196576_73196579delinsGAGA | CA2274431958 | COG1 | c.385_388delinsGAGA (p.Glu129=) c.383_386delinsGAGA c.382_385delinsGAGA | |
17 | g.73196577A= | CA2274431959 | COG1 | c.386A= (p.Glu129=) c.384A= c.383A= | |
17 | g.73196577A>C | CA400883061 | COG1 | c.386A>C (p.Glu129Ala) c.384A>C c.383A>C | |
17 | g.73196577A>G | CA293799357 | COG1 | c.386A>G (p.Glu129Gly) c.384A>G c.383A>G | dbSNP |
17 | g.73196577A>T | CA400883063 | COG1 | c.386A>T (p.Glu129Val) c.384A>T c.383A>T | |
17 | g.73196580_73196582del | CA8739951 | COG1 | c.389_391del (p.Lys130del) c.387_389del c.386_388del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196578G>A | CA502026251 | COG1 | c.387G>A (p.Glu129=) c.385G>A c.384G>A | dbSNP gnomAD v4 |
17 | g.73196578G>C | CA400883069 | COG1 | c.387G>C (p.Glu129Asp) c.385G>C c.384G>C | |
17 | g.73196578G= | CA2274431960 | COG1 | c.387G= (p.Glu129=) c.385G= c.384G= | |
17 | g.73196578G>T | CA400883066 | COG1 | c.387G>T (p.Glu129Asp) c.385G>T c.384G>T | |
17 | g.73196579A>C | CA400883073 | COG1 | c.388A>C (p.Lys130Gln) c.386A>C c.385A>C | |
17 | g.73196579A>G | CA400883072 | COG1 | c.388A>G (p.Lys130Glu) c.386A>G c.385A>G | |
17 | g.73196579A>T | CA400883074 | COG1 | c.388A>T (p.Lys130Ter) c.386A>T c.385A>T | |
17 | g.73196580A= | CA2274431961 | COG1 | c.389A= (p.Lys130=) c.387A= c.386A= | |
17 | g.73196580A>C | CA400883078 | COG1 | c.389A>C (p.Lys130Thr) c.387A>C c.386A>C | COSMIC |
17 | g.73196580A>G | CA400883083 | COG1 | c.389A>G (p.Lys130Arg) c.387A>G c.386A>G | |
17 | g.73196580A>T | CA400883081 | COG1 | c.389A>T (p.Lys130Met) c.387A>T c.386A>T | dbSNP |
17 | g.73196581G>A | CA502026252 | COG1 | c.390G>A (p.Lys130=) c.388G>A c.387G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.73196581G>C | CA400883086 | COG1 | c.390G>C (p.Lys130Asn) c.388G>C c.387G>C | |
17 | g.73196581G= | CA2274431962 | COG1 | c.390G= (p.Lys130=) c.388G= c.387G= | |
17 | g.73196581G>T | CA400883088 | COG1 | c.390G>T (p.Lys130Asn) c.388G>T c.387G>T | |
17 | g.73196582A>C | CA400883091 | COG1 | c.391A>C (p.Ile131Leu) c.389A>C c.388A>C | |
17 | g.73196582A>G | CA400883093 | COG1 | c.391A>G (p.Ile131Val) c.389A>G c.388A>G | |
17 | g.73196582A>T | CA400883095 | COG1 | c.391A>T (p.Ile131Phe) c.389A>T c.388A>T | |
17 | g.73196583T>A | CA8739952 | COG1 | c.392T>A (p.Ile131Asn) c.390T>A c.389T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.73196583T>C | CA400883098 | COG1 | c.392T>C (p.Ile131Thr) c.390T>C c.389T>C | |
17 | g.73196583T>G | CA400883101 | COG1 | c.392T>G (p.Ile131Ser) c.390T>G c.389T>G | |
17 | g.73196583T= | CA2274431963 | COG1 | c.392T= (p.Ile131=) c.390T= c.389T= | |
17 | g.73196584C>A | CA8739954 | COG1 | c.393C>A (p.Ile131=) c.391C>A c.390C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196584C= | CA2274431964 | COG1 | c.393C= (p.Ile131=) c.391C= c.390C= | |
17 | g.73196584C>G | CA400883110 | COG1 | c.393C>G (p.Ile131Met) c.391C>G c.390C>G | |
17 | g.73196584C>T | CA8739953 | COG1 | c.393C>T (p.Ile131=) c.391C>T c.390C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.73196585T>A | CA400883116 | COG1 | c.394T>A (p.Trp132Arg) c.392T>A c.391T>A | |
17 | g.73196585T>C | CA8739955 | COG1 | c.394T>C (p.Trp132Arg) c.392T>C c.391T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196585T>G | CA400883115 | COG1 | c.394T>G (p.Trp132Gly) c.392T>G c.391T>G | |
17 | g.73196585T= | CA2274431965 | COG1 | c.394T= (p.Trp132=) c.392T= c.391T= | |
17 | g.73196586G>A | CA400883118 | COG1 | c.395G>A (p.Trp132Ter) c.393G>A c.392G>A | dbSNP gnomAD v4 |
17 | g.73196586G>C | CA400883119 | COG1 | c.395G>C (p.Trp132Ser) c.393G>C c.392G>C | gnomAD v4 |
17 | g.73196586G= | CA2274431966 | COG1 | c.395G= (p.Trp132=) c.393G= c.392G= | |
17 | g.73196586G>T | CA400883121 | COG1 | c.395G>T (p.Trp132Leu) c.393G>T c.392G>T | |
17 | g.73196587G>A | CA400883123 | COG1 | c.396G>A (p.Trp132Ter) c.394G>A c.393G>A | |
17 | g.73196587G>C | CA293799375 | COG1 | c.396G>C (p.Trp132Cys) c.394G>C c.393G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.73196587G= | CA2274431967 | COG1 | c.396G= (p.Trp132=) c.394G= c.393G= | |
17 | g.73196587G>T | CA400883129 | COG1 | c.396G>T (p.Trp132Cys) c.394G>T c.393G>T | |
17 | g.73196588A= | CA2274431968 | COG1 | c.397A= (p.Ser133=) c.395A= c.394A= | |
17 | g.73196588A>C | CA400883130 | COG1 | c.397A>C (p.Ser133Arg) c.395A>C c.394A>C | |
17 | g.73196588A>G | CA400883131 | COG1 | c.397A>G (p.Ser133Gly) c.395A>G c.394A>G | dbSNP |
17 | g.73196588A>T | CA400883132 | COG1 | c.397A>T (p.Ser133Cys) c.395A>T c.394A>T | gnomAD v4 |
17 | g.73196589G>A | CA400883134 | COG1 | c.398G>A (p.Ser133Asn) c.396G>A c.395G>A | |
17 | g.73196589G>C | CA400883135 | COG1 | c.398G>C (p.Ser133Thr) c.396G>C c.395G>C | |
17 | g.73196589G>T | CA400883137 | COG1 | c.398G>T (p.Ser133Ile) c.396G>T c.395G>T | |
17 | g.73196590C>A | CA400883141 | COG1 | c.399C>A (p.Ser133Arg) c.397C>A c.396C>A | |
17 | g.73196590C>G | CA400883144 | COG1 | c.399C>G (p.Ser133Arg) c.397C>G c.396C>G | |
17 | g.73196590C>T | CA502026258 | COG1 | c.399C>T (p.Ser133=) c.397C>T c.396C>T | |
17 | g.73196591T>A | CA400883145 | COG1 | c.400T>A (p.Ser134Thr) c.398T>A c.397T>A | gnomAD v4 |
17 | g.73196591T>C | CA400883146 | COG1 | c.400T>C (p.Ser134Pro) c.398T>C c.397T>C | |
17 | g.73196591T>G | CA400883147 | COG1 | c.400T>G (p.Ser134Ala) c.398T>G c.397T>G | |
17 | g.73196592C>A | CA400883149 | COG1 | c.401C>A (p.Ser134Ter) c.399C>A c.398C>A | |
17 | g.73196592C= | CA2274431969 | COG1 | c.401C= (p.Ser134=) c.399C= c.398C= | |
17 | g.73196592C>G | CA400883158 | COG1 | c.401C>G (p.Ser134Trp) c.399C>G c.398C>G | |
17 | g.73196592C>T | CA149039 | COG1 | c.401C>T (p.Ser134Leu) c.399C>T c.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196593G>A | CA8739956 | COG1 | c.402G>A (p.Ser134=) c.400G>A c.399G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196593G>C | CA502026259 | COG1 | c.402G>C (p.Ser134=) c.400G>C c.399G>C | |
17 | g.73196593G= | CA2274431970 | COG1 | c.402G= (p.Ser134=) c.400G= c.399G= | |
17 | g.73196593G>T | CA502026260 | COG1 | c.402G>T (p.Ser134=) c.400G>T c.399G>T | |
17 | g.73196594A= | CA2274431971 | COG1 | c.403A= (p.Met135=) c.401A= c.400A= | |
17 | g.73196594A>C | CA400883168 | COG1 | c.403A>C (p.Met135Leu) c.401A>C c.400A>C | |
17 | g.73196594A>G | CA400883175 | COG1 | c.403A>G (p.Met135Val) c.401A>G c.400A>G | |
17 | g.73196594A>T | CA8739957 | COG1 | c.403A>T (p.Met135Leu) c.401A>T c.400A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.73196595T>A | CA400883176 | COG1 | c.404T>A (p.Met135Lys) c.402T>A c.401T>A | |
17 | g.73196595T>C | CA8739958 | COG1 | c.404T>C (p.Met135Thr) c.402T>C c.401T>C | dbSNP ExAC gnomAD v4 |
17 | g.73196595T>G | CA400883178 | COG1 | c.404T>G (p.Met135Arg) c.402T>G c.401T>G | |
17 | g.73196595T= | CA2274431972 | COG1 | c.404T= (p.Met135=) c.402T= c.401T= | |
17 | g.73196596G>A | CA400883188 | COG1 | c.405G>A (p.Met135Ile) c.403G>A c.402G>A | |
17 | g.73196596G>C | CA400883181 | COG1 | c.405G>C (p.Met135Ile) c.403G>C c.402G>C | |
17 | g.73196596G>T | CA400883184 | COG1 | c.405G>T (p.Met135Ile) c.403G>T c.402G>T | |
17 | g.73196597G>A | CA400883190 | COG1 | c.406G>A (p.Glu136Lys) c.404G>A c.403G>A | |
17 | g.73196597G>C | CA400883193 | COG1 | c.406G>C (p.Glu136Gln) c.404G>C c.403G>C | |
17 | g.73196597G>T | CA400883194 | COG1 | c.406G>T (p.Glu136Ter) c.404G>T c.403G>T | |
17 | g.73196598A>C | CA400883197 | COG1 | c.407A>C (p.Glu136Ala) c.405A>C c.404A>C | |
17 | g.73196598A>G | CA400883200 | COG1 | c.407A>G (p.Glu136Gly) c.405A>G c.404A>G | |
17 | g.73196598A>T | CA400883203 | COG1 | c.407A>T (p.Glu136Val) c.405A>T c.404A>T | |
17 | g.73196599A>C | CA400883204 | COG1 | c.408A>C (p.Glu136Asp) c.406A>C c.405A>C | |
17 | g.73196599A>G | CA502026261 | COG1 | c.408A>G (p.Glu136=) c.406A>G c.405A>G | |
17 | g.73196599A>T | CA400883207 | COG1 | c.408A>T (p.Glu136Asp) c.406A>T c.405A>T | |
17 | g.73196600G>A | CA400883208 | COG1 | c.409G>A (p.Ala137Thr) c.407G>A c.406G>A | |
17 | g.73196600G>C | CA400883210 | COG1 | c.409G>C (p.Ala137Pro) c.407G>C c.406G>C | |
17 | g.73196600G>T | CA400883213 | COG1 | c.409G>T (p.Ala137Ser) c.407G>T c.406G>T | |
17 | g.73196601C>A | CA400883220 | COG1 | c.410C>A (p.Ala137Asp) c.408C>A c.407C>A | |
17 | g.73196601C>G | CA400883219 | COG1 | c.410C>G (p.Ala137Gly) c.408C>G c.407C>G | |
17 | g.73196601C>T | CA400883217 | COG1 | c.410C>T (p.Ala137Val) c.408C>T c.407C>T |