| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.73196385_73196401dup | CA2639622912 | COG1 | c.316-122_316-106dup (n.316-122_316-106dup) c.314-122_314-106dup c.293-102_293-86dup | gnomAD v4 |
| 17 | g.73196398A= | CA2274431870 | COG1 | c.316-109A= (n.316-109A=) c.314-109A= c.293-89A= | |
| 17 | g.73196398A>G | CA2274431871 | COG1 | c.316-109A>G (n.316-109A>G) c.314-109A>G c.293-89A>G | dbSNP gnomAD v4 |
| 17 | g.73196398A>T | CA2639622926 | COG1 | c.316-109A>T (n.316-109A>T) c.314-109A>T c.293-89A>T | gnomAD v4 |
| 17 | g.73196399A>G | CA2810373824 | COG1 | c.316-108A>G (n.316-108A>G) c.314-108A>G c.293-88A>G | |
| 17 | g.73196400T>C | CA2274431873 | COG1 | c.316-107T>C (n.316-107T>C) c.314-107T>C c.293-87T>C | dbSNP gnomAD v4 |
| 17 | g.73196400T= | CA2274431872 | COG1 | c.316-107T= (n.316-107T=) c.314-107T= c.293-87T= | |
| 17 | g.73196403_73196405del | CA2576374976 | COG1 | c.316-104_316-102del (n.316-104_316-102del) c.314-104_314-102del c.293-84_293-82del | gnomAD v4 |
| 17 | g.73196402G>A | CA774876069 | COG1 | c.316-105G>A (n.316-105G>A) c.314-105G>A c.293-85G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196402G>C | CA293799131 | COG1 | c.316-105G>C (n.316-105G>C) c.314-105G>C c.293-85G>C | dbSNP gnomAD v4 |
| 17 | g.73196402G= | CA2274431874 | COG1 | c.316-105G= (n.316-105G=) c.314-105G= c.293-85G= | |
| 17 | g.73196402G>T | CA774876067 | COG1 | c.316-105G>T (n.316-105G>T) c.314-105G>T c.293-85G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196403A>C | CA2639622927 | COG1 | c.316-104A>C (n.316-104A>C) c.314-104A>C c.293-84A>C | gnomAD v4 |
| 17 | g.73196405G>T | CA2639622928 | COG1 | c.316-102G>T (n.316-102G>T) c.314-102G>T c.293-82G>T | gnomAD v4 |
| 17 | g.73196406T>C | CA2639622929 | COG1 | c.316-101T>C (n.316-101T>C) c.314-101T>C c.293-81T>C | gnomAD v4 |
| 17 | g.73196409del | CA2576374977 | COG1 | c.316-98del (n.316-98del) c.314-98del c.293-78del | |
| 17 | g.73196410G>A | CA2576374978 | COG1 | c.316-97G>A (n.316-97G>A) c.314-97G>A c.293-77G>A | |
| 17 | g.73196410G>C | CA2639622930 | COG1 | c.316-97G>C (n.316-97G>C) c.314-97G>C c.293-77G>C | gnomAD v4 |
| 17 | g.73196411T>A | CA2639622931 | COG1 | c.316-96T>A (n.316-96T>A) c.314-96T>A c.293-76T>A | gnomAD v4 |
| 17 | g.73196412A>G | CA2734170103 | COG1 | c.316-95A>G (n.316-95A>G) c.314-95A>G c.293-75A>G | dbSNP |
| 17 | g.73196413T>A | CA2639622932 | COG1 | c.316-94T>A (n.316-94T>A) c.314-94T>A c.293-74T>A | gnomAD v4 |
| 17 | g.73196414C= | CA2274431875 | COG1 | c.316-93C= (n.316-93C=) c.314-93C= c.293-73C= | |
| 17 | g.73196414C>G | CA986116706 | COG1 | c.316-93C>G (n.316-93C>G) c.314-93C>G c.293-73C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196414C>T | CA2576374980 | COG1 | c.316-93C>T (n.316-93C>T) c.314-93C>T c.293-73C>T | gnomAD v4 |
| 17 | g.73196414_73196415del | CA2576374979 | COG1 | c.316-93_316-92del (n.316-93_316-92del) c.314-93_314-92del c.293-73_293-72del | |
| 17 | g.73196415C>A | CA2576374981 | COG1 | c.316-92C>A (n.316-92C>A) c.314-92C>A c.293-72C>A | gnomAD v4 |
| 17 | g.73196415C= | CA2274431876 | COG1 | c.316-92C= (n.316-92C=) c.314-92C= c.293-72C= | |
| 17 | g.73196415C>T | CA774876073 | COG1 | c.316-92C>T (n.316-92C>T) c.314-92C>T c.293-72C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196416T>A | CA2576374982 | COG1 | c.316-91T>A (n.316-91T>A) c.314-91T>A c.293-71T>A | |
| 17 | g.73196416T>G | CA2274431878 | COG1 | c.316-91T>G (n.316-91T>G) c.314-91T>G c.293-71T>G | dbSNP |
| 17 | g.73196416T= | CA2274431877 | COG1 | c.316-91T= (n.316-91T=) c.314-91T= c.293-71T= | |
| 17 | g.73196417T>G | CA2576374983 | COG1 | c.316-90T>G (n.316-90T>G) c.314-90T>G c.293-70T>G | |
| 17 | g.73196419_73196420dup | CA2576374984 | COG1 | c.316-88_316-87dup (n.316-88_316-87dup) c.314-88_314-87dup c.293-68_293-67dup | |
| 17 | g.73196421T>C | CA2274431880 | COG1 | c.316-86T>C (n.316-86T>C) c.314-86T>C c.293-66T>C | dbSNP |
| 17 | g.73196421T= | CA2274431879 | COG1 | c.316-86T= (n.316-86T=) c.314-86T= c.293-66T= | |
| 17 | g.73196423C>A | CA2639622934 | COG1 | c.316-84C>A (n.316-84C>A) c.314-84C>A c.293-64C>A | gnomAD v4 |
| 17 | g.73196423C>G | CA2810373826 | COG1 | c.316-84C>G (n.316-84C>G) c.314-84C>G c.293-64C>G | |
| 17 | g.73196423C>T | CA2810373827 | COG1 | c.316-84C>T (n.316-84C>T) c.314-84C>T c.293-64C>T | |
| 17 | g.73196427dup | CA2639622933 | COG1 | c.316-80dup (n.316-80dup) c.314-80dup c.293-60dup | gnomAD v4 |
| 17 | g.73196427del | CA2576374985 | COG1 | c.316-80del (n.316-80del) c.314-80del c.293-60del | gnomAD v4 |
| 17 | g.73196424C>A | CA2639622935 | COG1 | c.316-83C>A (n.316-83C>A) c.314-83C>A c.293-63C>A | gnomAD v4 |
| 17 | g.73196424C>T | CA2639622936 | COG1 | c.316-83C>T (n.316-83C>T) c.314-83C>T c.293-63C>T | gnomAD v4 |
| 17 | g.73196425C>A | CA2274431882 | COG1 | c.316-82C>A (n.316-82C>A) c.314-82C>A c.293-62C>A | dbSNP |
| 17 | g.73196425C= | CA2274431881 | COG1 | c.316-82C= (n.316-82C=) c.314-82C= c.293-62C= | |
| 17 | g.73196425C>G | CA293799140 | COG1 | c.316-82C>G (n.316-82C>G) c.314-82C>G c.293-62C>G | dbSNP gnomAD v4 |
| 17 | g.73196425C>T | CA2639622937 | COG1 | c.316-82C>T (n.316-82C>T) c.314-82C>T c.293-62C>T | gnomAD v4 |
| 17 | g.73196427C>A | CA2639622938 | COG1 | c.316-80C>A (n.316-80C>A) c.314-80C>A c.293-60C>A | gnomAD v4 |
| 17 | g.73196428A= | CA2274431883 | COG1 | c.316-79A= (n.316-79A=) c.314-79A= c.293-59A= | |
| 17 | g.73196428A>C | CA774876076 | COG1 | c.316-79A>C (n.316-79A>C) c.314-79A>C c.293-59A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196429G>T | CA2639622939 | COG1 | c.316-78G>T (n.316-78G>T) c.314-78G>T c.293-58G>T | gnomAD v4 |
| 17 | g.73196430A>T | CA2639622940 | COG1 | c.316-77A>T (n.316-77A>T) c.314-77A>T c.293-57A>T | gnomAD v4 |
| 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 |