| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.73196431T>C | CA2639622941 | COG1 | c.316-76T>C (n.316-76T>C) c.314-76T>C c.293-56T>C | gnomAD v4 |
| 17 | g.73196433_73196434insA | CA2639622942 | COG1 | c.316-74_316-73insA (n.316-74_316-73insA) c.314-74_314-73insA c.293-54_293-53insA | gnomAD v4 |
| 17 | g.73196434C>A | CA2810373828 | COG1 | c.316-73C>A (n.316-73C>A) c.314-73C>A c.293-53C>A | |
| 17 | g.73196435T>C | CA774876079 | COG1 | c.316-72T>C (n.316-72T>C) c.314-72T>C c.293-52T>C | dbSNP gnomAD v4 |
| 17 | g.73196435T= | CA2274431884 | COG1 | c.316-72T= (n.316-72T=) c.314-72T= c.293-52T= | |
| 17 | g.73196437C>A | CA2639622943 | COG1 | c.316-70C>A (n.316-70C>A) c.314-70C>A c.293-50C>A | gnomAD v4 |
| 17 | g.73196437C= | CA2274431885 | COG1 | c.316-70C= (n.316-70C=) c.314-70C= c.293-50C= | |
| 17 | g.73196437C>T | CA293799153 | COG1 | c.316-70C>T (n.316-70C>T) c.314-70C>T c.293-50C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196439T>C | CA8739922 | COG1 | c.316-68T>C (n.316-68T>C) c.314-68T>C c.293-48T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196439T= | CA2274431886 | COG1 | c.316-68T= (n.316-68T=) c.314-68T= c.293-48T= | |
| 17 | g.73196442G>A | CA8739923 | COG1 | c.316-65G>A (n.316-65G>A) c.314-65G>A c.293-45G>A | dbSNP ExAC gnomAD v2 |
| 17 | g.73196442G= | CA2274431887 | COG1 | c.316-65G= (n.316-65G=) c.314-65G= c.293-45G= | |
| 17 | g.73196442G>T | CA8739924 | COG1 | c.316-65G>T (n.316-65G>T) c.314-65G>T c.293-45G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196443C= | CA2274431888 | COG1 | c.316-64C= (n.316-64C=) c.314-64C= c.293-44C= | |
| 17 | g.73196443C>T | CA293799162 | COG1 | c.316-64C>T (n.316-64C>T) c.314-64C>T c.293-44C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196444C>T | CA2639622944 | COG1 | c.316-63C>T (n.316-63C>T) c.314-63C>T c.293-43C>T | gnomAD v4 |
| 17 | g.73196446A>G | CA2741553845 | COG1 | c.316-61A>G (n.316-61A>G) c.314-61A>G c.293-41A>G | |
| 17 | g.73196447C>A | CA293799165 | COG1 | c.316-60C>A (n.316-60C>A) c.314-60C>A c.293-40C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196447C= | CA2274431889 | COG1 | c.316-60C= (n.316-60C=) c.314-60C= c.293-40C= | |
| 17 | g.73196447C>T | CA627590150 | COG1 | c.316-60C>T (n.316-60C>T) c.314-60C>T c.293-40C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196448A>T | CA2810373829 | COG1 | c.316-59A>T (n.316-59A>T) c.314-59A>T c.293-39A>T | |
| 17 | g.73196449G>A | CA2639622945 | COG1 | c.316-58G>A (n.316-58G>A) c.314-58G>A c.293-38G>A | gnomAD v4 |
| 17 | g.73196449G>C | CA2274431891 | COG1 | c.316-58G>C (n.316-58G>C) c.314-58G>C c.293-38G>C | dbSNP |
| 17 | g.73196449G= | CA2274431890 | COG1 | c.316-58G= (n.316-58G=) c.314-58G= c.293-38G= | |
| 17 | g.73196451del | CA2810373830 | COG1 | c.316-56del (n.316-56del) c.314-56del c.293-36del | |
| 17 | g.73196452C= | CA2274431892 | COG1 | c.316-55C= (n.316-55C=) c.314-55C= c.293-35C= | |
| 17 | g.73196452C>T | CA2274431893 | COG1 | c.316-55C>T (n.316-55C>T) c.314-55C>T c.293-35C>T | dbSNP gnomAD v4 |
| 17 | g.73196453A>G | CA2639622946 | COG1 | c.316-54A>G (n.316-54A>G) c.314-54A>G c.293-34A>G | gnomAD v4 |
| 17 | g.73196453_73196455delinsACT | CA2274431894 | COG1 | c.316-54_316-52delinsACT (n.316-54_316-52delinsACT) c.314-54_314-52delinsACT c.293-34_293-32delinsACT | |
| 17 | g.73196454C= | CA2274431896 | COG1 | c.316-53C= (n.316-53C=) c.314-53C= c.293-33C= | |
| 17 | g.73196454C>T | CA8739925 | COG1 | c.316-53C>T (n.316-53C>T) c.314-53C>T c.293-33C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196454_73196455del | CA2274431895 | COG1 | c.316-53_316-52del (n.316-53_316-52del) c.314-53_314-52del c.293-33_293-32del | dbSNP gnomAD v4 |
| 17 | g.73196455T>C | CA2639622948 | COG1 | c.316-52T>C (n.316-52T>C) c.314-52T>C c.293-32T>C | gnomAD v4 |
| 17 | g.73196455T>G | CA2576374986 | COG1 | c.316-52T>G (n.316-52T>G) c.314-52T>G c.293-32T>G | gnomAD v4 |
| 17 | g.73196455_73196457delinsTGA | CA2274431897 | COG1 | c.316-52_316-50delinsTGA (n.316-52_316-50delinsTGA) c.314-52_314-50delinsTGA c.293-32_293-30delinsTGA | |
| 17 | g.73196458_73196459del | CA774876085 | COG1 | c.316-49_316-48del (n.316-49_316-48del) c.314-49_314-48del c.293-29_293-28del | dbSNP gnomAD v4 |
| 17 | g.73196457A= | CA2274431898 | COG1 | c.316-50A= (n.316-50A=) c.314-50A= c.293-30A= | |
| 17 | g.73196457A>C | CA986116716 | COG1 | c.316-50A>C (n.316-50A>C) c.314-50A>C c.293-30A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196458G>A | CA986116717 | COG1 | c.316-49G>A (n.316-49G>A) c.314-49G>A c.293-29G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196458G= | CA2274431899 | COG1 | c.316-49G= (n.316-49G=) c.314-49G= c.293-29G= | |
| 17 | g.73196459A= | CA2274431900 | COG1 | c.316-48A= (n.316-48A=) c.314-48A= c.293-28A= | |
| 17 | g.73196459A>G | CA627590151 | COG1 | c.316-48A>G (n.316-48A>G) c.314-48A>G c.293-28A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196459A>T | CA656868506 | COG1 | c.316-48A>T (n.316-48A>T) c.314-48A>T c.293-28A>T | |
| 17 | g.73196460T>C | CA2274431901 | COG1 | c.316-47T>C (n.316-47T>C) c.314-47T>C c.293-27T>C | dbSNP gnomAD v4 |
| 17 | g.73196460T= | CA2274431902 | COG1 | c.316-47T= (n.316-47T=) c.314-47T= c.293-27T= | |
| 17 | g.73196462G= | CA2274431903 | COG1 | c.316-45G= (n.316-45G=) c.314-45G= c.293-25G= | |
| 17 | g.73196462G>T | CA293799175 | COG1 | c.316-45G>T (n.316-45G>T) c.314-45G>T c.293-25G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196463C= | CA2274431904 | COG1 | c.316-44C= (n.316-44C=) c.314-44C= c.293-24C= | |
| 17 | g.73196463C>T | CA2274431905 | COG1 | c.316-44C>T (n.316-44C>T) c.314-44C>T c.293-24C>T | dbSNP |
| 17 | g.73196468G>T | CA2741553846 | COG1 | c.316-39G>T (n.316-39G>T) c.314-39G>T c.293-19G>T | |
| 17 | g.73196471C>A | CA8739926 | COG1 | c.316-36C>A (n.316-36C>A) c.314-36C>A c.293-16C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196471C= | CA2274431906 | COG1 | c.316-36C= (n.316-36C=) c.314-36C= c.293-16C= | |
| 17 | g.73196471C>T | CA8739927 | COG1 | c.316-36C>T (n.316-36C>T) c.314-36C>T c.293-16C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196472G>A | CA8739928 | COG1 | c.316-35G>A (n.316-35G>A) c.314-35G>A c.293-15G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196472G>C | CA8739929 | COG1 | c.316-35G>C (n.316-35G>C) c.314-35G>C c.293-15G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196472G= | CA2274431907 | COG1 | c.316-35G= (n.316-35G=) c.314-35G= c.293-15G= | |
| 17 | g.73196472G>T | CA2639622953 | COG1 | c.316-35G>T (n.316-35G>T) c.314-35G>T c.293-15G>T | gnomAD v4 |
| 17 | g.73196477_73196479del | CA2525811614 | COG1 | c.316-30_316-28del (n.316-30_316-28del) c.314-30_314-28del c.293-10_293-8del | |
| 17 | g.73196474T>A | CA2639622955 | COG1 | c.316-33T>A (n.316-33T>A) c.314-33T>A c.293-13T>A | gnomAD v4 |
| 17 | g.73196474T>C | CA2576374987 | COG1 | c.316-33T>C (n.316-33T>C) c.314-33T>C c.293-13T>C | |
| 17 | g.73196475C>A | CA2639622956 | COG1 | c.316-32C>A (n.316-32C>A) c.314-32C>A c.293-12C>A | gnomAD v4 |
| 17 | g.73196475C= | CA2274431908 | COG1 | c.316-32C= (n.316-32C=) c.314-32C= c.293-12C= | |
| 17 | g.73196475C>G | CA774876095 | COG1 | c.316-32C>G (n.316-32C>G) c.314-32C>G c.293-12C>G | dbSNP |
| 17 | g.73196476T>C | CA8739930 | COG1 | c.316-31T>C (n.316-31T>C) c.314-31T>C c.293-11T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196476T= | CA2274431909 | COG1 | c.316-31T= (n.316-31T=) c.314-31T= c.293-11T= | |
| 17 | g.73196478C= | CA2274431910 | COG1 | c.316-29C= (n.316-29C=) c.314-29C= c.293-9C= | |
| 17 | g.73196478C>T | CA8739931 | COG1 | c.316-29C>T (n.316-29C>T) c.314-29C>T c.293-9C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196479T>C | CA8739932 | COG1 | c.316-28T>C (n.316-28T>C) c.314-28T>C c.293-8T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196479T= | CA2274431911 | COG1 | c.316-28T= (n.316-28T=) c.314-28T= c.293-8T= | |
| 17 | g.73196481G>A | CA293799236 | COG1 | c.316-26G>A (n.316-26G>A) c.314-26G>A c.293-6G>A | dbSNP gnomAD v2 |
| 17 | g.73196481G= | CA2274431912 | COG1 | c.316-26G= (n.316-26G=) c.314-26G= c.293-6G= | |
| 17 | g.73196486G>C | CA2639622957 | COG1 | c.316-21G>C (n.316-21G>C) c.314-21G>C c.293-1G>C | gnomAD v4 |
| 17 | g.73196489C>A | CA2639622958 | COG1 | c.316-18C>A (n.316-18C>A) c.314-18C>A c.295C>A | gnomAD v4 |
| 17 | g.73196490T>C | CA293799239 | COG1 | c.316-17T>C (n.316-17T>C) c.314-17T>C c.296T>C | dbSNP gnomAD v4 |
| 17 | g.73196490T= | CA2274431913 | COG1 | c.316-17T= (n.316-17T=) c.314-17T= c.296T= | |
| 17 | g.73196493G>A | CA8739933 | COG1 | c.316-14G>A (n.316-14G>A) c.314-14G>A c.299G>A | dbSNP ExAC gnomAD v2 |
| 17 | g.73196493G= | CA2274431914 | COG1 | c.316-14G= (n.316-14G=) c.314-14G= c.299G= | |
| 17 | g.73196494C>T | CA2639622959 | COG1 | c.316-13C>T (n.316-13C>T) c.314-13C>T c.300C>T | gnomAD v4 |
| 17 | g.73196495C>A | CA2639622961 | COG1 | c.316-12C>A (n.316-12C>A) c.314-12C>A c.301C>A | gnomAD v4 |
| 17 | g.73196495C= | CA2274431915 | COG1 | c.316-12C= (n.316-12C=) c.314-12C= c.301C= | |
| 17 | g.73196495C>T | CA627590152 | COG1 | c.316-12C>T (n.316-12C>T) c.314-12C>T c.301C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196496T>C | CA2576374988 | COG1 | c.316-11T>C (n.316-11T>C) c.314-11T>C c.302T>C | |
| 17 | g.73196497T>C | CA627590153 | COG1 | c.316-10T>C (n.316-10T>C) c.314-10T>C c.303T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196497T= | CA2274431916 | COG1 | c.316-10T= (n.316-10T=) c.314-10T= c.303T= | |
| 17 | g.73196498C>T | CA2639622963 | COG1 | c.316-9C>T (n.316-9C>T) c.314-9C>T c.304C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.73196501dup | CA774876099 | COG1 | c.316-6dup (n.316-6dup) c.314-6dup c.307dup | dbSNP gnomAD v4 |
| 17 | g.73196499C>A | CA2639622964 | COG1 | c.316-8C>A (n.316-8C>A) c.314-8C>A c.305C>A | gnomAD v4 |
| 17 | g.73196499C>T | CA2576374989 | COG1 | c.316-8C>T (n.316-8C>T) c.314-8C>T c.305C>T | |
| 17 | g.73196500C>T | CA2639622966 | COG1 | c.316-7C>T (n.316-7C>T) c.314-7C>T c.306C>T | 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= |