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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45983985T>C | CA1022876150 | COL6A1 | c.228-284T>C (n.228-284T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45983985T= | CA2392429853 | COL6A1 | c.228-284T= (n.228-284T=) | |
| 21 | g.45983991C= | CA2392429854 | COL6A1 | c.228-278C= (n.228-278C=) | |
| 21 | g.45983991C>T | CA749823788 | COL6A1 | c.228-278C>T (n.228-278C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45983992C>A | CA2548911525 | COL6A1 | c.228-277C>A (n.228-277C>A) | |
| 21 | g.45983992C>G | CA2818097841 | COL6A1 | c.228-277C>G (n.228-277C>G) | |
| 21 | g.45983993C= | CA2392429855 | COL6A1 | c.228-276C= (n.228-276C=) | |
| 21 | g.45983993C>T | CA749823790 | COL6A1 | c.228-276C>T (n.228-276C>T) | dbSNP |
| 21 | g.45983995C= | CA2392429856 | COL6A1 | c.228-274C= (n.228-274C=) | |
| 21 | g.45983995C>T | CA1022876153 | COL6A1 | c.228-274C>T (n.228-274C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45983997G>A | CA749823793 | COL6A1 | c.228-272G>A (n.228-272G>A) | dbSNP |
| 21 | g.45983997G= | CA2392429857 | COL6A1 | c.228-272G= (n.228-272G=) | |
| 21 | g.45983997G>T | CA638176477 | COL6A1 | c.228-272G>T (n.228-272G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45983998C>T | CA2818097842 | COL6A1 | c.228-271C>T (n.228-271C>T) | |
| 21 | g.45984001G>A | CA749823809 | COL6A1 | c.228-268G>A (n.228-268G>A) | dbSNP |
| 21 | g.45984001G= | CA2392429858 | COL6A1 | c.228-268G= (n.228-268G=) | |
| 21 | g.45984003C= | CA2392429859 | COL6A1 | c.228-266C= (n.228-266C=) | |
| 21 | g.45984003C>T | CA2392429860 | COL6A1 | c.228-266C>T (n.228-266C>T) | dbSNP |
| 21 | g.45984004C= | CA2392429862 | COL6A1 | c.228-265C= (n.228-265C=) | |
| 21 | g.45984004C>G | CA2392429861 | COL6A1 | c.228-265C>G (n.228-265C>G) | dbSNP |
| 21 | g.45984004C>T | CA321954789 | COL6A1 | c.228-265C>T (n.228-265C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984009A>G | CA2818097843 | COL6A1 | c.228-260A>G (n.228-260A>G) | |
| 21 | g.45984009_45984010delinsAC | CA2392429863 | COL6A1 | c.228-260_228-259delinsAC (n.228-260_228-259delinsAC) | |
| 21 | g.45984013del | CA1022876164 | COL6A1 | c.228-256del (n.228-256del) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984012C= | CA2392429864 | COL6A1 | c.228-257C= (n.228-257C=) | |
| 21 | g.45984012C>T | CA749823815 | COL6A1 | c.228-257C>T (n.228-257C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984013C>A | CA1022876175 | COL6A1 | c.228-256C>A (n.228-256C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984013C= | CA2392429865 | COL6A1 | c.228-256C= (n.228-256C=) | |
| 21 | g.45984013C>T | CA749823821 | COL6A1 | c.228-256C>T (n.228-256C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984014A= | CA2392429866 | COL6A1 | c.228-255A= (n.228-255A=) | |
| 21 | g.45984014A>C | CA2392429867 | COL6A1 | c.228-255A>C (n.228-255A>C) | dbSNP |
| 21 | g.45984017C= | CA2392429868 | COL6A1 | c.228-252C= (n.228-252C=) | |
| 21 | g.45984017C>G | CA749823826 | COL6A1 | c.228-252C>G (n.228-252C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984017C>T | CA638176478 | COL6A1 | c.228-252C>T (n.228-252C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984019_45984024delinsAGCAGG | CA2392429869 | COL6A1 | c.228-250_228-245delinsAGCAGG (n.228-250_228-245delinsAGCAGG) | |
| 21 | g.45984020G>A | CA749823844 | COL6A1 | c.228-249G>A (n.228-249G>A) | dbSNP |
| 21 | g.45984020G= | CA2392429870 | COL6A1 | c.228-249G= (n.228-249G=) | |
| 21 | g.45984022_45984026del | CA749823833 | COL6A1 | c.228-247_228-243del (n.228-247_228-243del) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984021C= | CA2392429871 | COL6A1 | c.228-248C= (n.228-248C=) | |
| 21 | g.45984021C>G | CA1022876179 | COL6A1 | c.228-248C>G (n.228-248C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984024G>A | CA638176480 | COL6A1 | c.228-245G>A (n.228-245G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984024G= | CA2392429872 | COL6A1 | c.228-245G= (n.228-245G=) | |
| 21 | g.45984025G>A | CA512708645 | COL6A1 | c.228-244G>A (n.228-244G>A) | |
| 21 | g.45984032A= | CA2392429874 | COL6A1 | c.228-237A= (n.228-237A=) | |
| 21 | g.45984032A>G | CA2392429873 | COL6A1 | c.228-237A>G (n.228-237A>G) | dbSNP |
| 21 | g.45984035C= | CA2392429875 | COL6A1 | c.228-234C= (n.228-234C=) | |
| 21 | g.45984035C>T | CA1022876183 | COL6A1 | c.228-234C>T (n.228-234C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984042C= | CA2392429876 | COL6A1 | c.228-227C= (n.228-227C=) | |
| 21 | g.45984042C>T | CA2392429877 | COL6A1 | c.228-227C>T (n.228-227C>T) | dbSNP |
| 21 | g.45984044_45984052delinsTGGTCTGAG | CA2392429878 | COL6A1 | c.228-225_228-217delinsTGGTCTGAG (n.228-225_228-217delinsTGGTCTGAG) | |
| 21 | g.45984045G>C | CA2392429881 | COL6A1 | c.228-224G>C (n.228-224G>C) | dbSNP |
| 21 | g.45984045G= | CA2392429880 | COL6A1 | c.228-224G= (n.228-224G=) | |
| 21 | g.45984047_45984054del | CA2392429879 | COL6A1 | c.228-222_228-215del (n.228-222_228-215del) | dbSNP |
| 21 | g.45984047T= | CA2392429882 | COL6A1 | c.228-222T= (n.228-222T=) | |
| 21 | g.45984048C= | CA2392429884 | COL6A1 | c.228-221C= (n.228-221C=) | |
| 21 | g.45984048C>G | CA321954791 | COL6A1 | c.228-221C>G (n.228-221C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984055_45984062dup | CA2392429883 | COL6A1 | c.228-214_228-207dup (n.228-214_228-207dup) | dbSNP |
| 21 | g.45984049T>G | CA749823847 | COL6A1 | c.228-220T>G (n.228-220T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984049T= | CA2392429885 | COL6A1 | c.228-220T= (n.228-220T=) | |
| 21 | g.45984056C= | CA2392429886 | COL6A1 | c.228-213C= (n.228-213C=) | |
| 21 | g.45984056C>T | CA638497621 | COL6A1 | c.228-213C>T (n.228-213C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984061G>A | CA749823853 | COL6A1 | c.228-208G>A (n.228-208G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984061G= | CA2392429887 | COL6A1 | c.228-208G= (n.228-208G=) | |
| 21 | g.45984065C= | CA2392429888 | COL6A1 | c.228-204C= (n.228-204C=) | |
| 21 | g.45984065C>G | CA321954793 | COL6A1 | c.228-204C>G (n.228-204C>G) | dbSNP |
| 21 | g.45984065C>T | CA321954795 | COL6A1 | c.228-204C>T (n.228-204C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984066G>A | CA321954797 | COL6A1 | c.228-203G>A (n.228-203G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.45984066G= | CA2392429889 | COL6A1 | c.228-203G= (n.228-203G=) | |
| 21 | g.45984066G>T | CA2392429890 | COL6A1 | c.228-203G>T (n.228-203G>T) | dbSNP |
| 21 | g.45984067G= | CA2392429891 | COL6A1 | c.228-202G= (n.228-202G=) | |
| 21 | g.45984069_45984071dup | CA920320713 | COL6A1 | c.228-200_228-198dup (n.228-200_228-198dup) | dbSNP |
| 21 | g.45984069G= | CA2392429892 | COL6A1 | c.228-200G= (n.228-200G=) | |
| 21 | g.45984069G>T | CA2392429893 | COL6A1 | c.228-200G>T (n.228-200G>T) | dbSNP |
| 21 | g.45984070C= | CA2392429894 | COL6A1 | c.228-199C= (n.228-199C=) | |
| 21 | g.45984070C>G | CA321954799 | COL6A1 | c.228-199C>G (n.228-199C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984070C>T | CA321954801 | COL6A1 | c.228-199C>T (n.228-199C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984071G>A | CA321954803 | COL6A1 | c.228-198G>A (n.228-198G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984071G= | CA2392429895 | COL6A1 | c.228-198G= (n.228-198G=) | |
| 21 | g.45984071G>T | CA321954805 | COL6A1 | c.228-198G>T (n.228-198G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984077C= | CA2392429896 | COL6A1 | c.228-192C= (n.228-192C=) | |
| 21 | g.45984077C>G | CA2392429897 | COL6A1 | c.228-192C>G (n.228-192C>G) | dbSNP |
| 21 | g.45984077C>T | CA321954807 | COL6A1 | c.228-192C>T (n.228-192C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984078G>A | CA1022876197 | COL6A1 | c.228-191G>A (n.228-191G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984078G= | CA2392429898 | COL6A1 | c.228-191G= (n.228-191G=) | |
| 21 | g.45984079C>A | CA749823860 | COL6A1 | c.228-190C>A (n.228-190C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45984079C= | CA2392429899 | COL6A1 | c.228-190C= (n.228-190C=) | |
| 21 | g.45984079C>T | CA638497622 | COL6A1 | c.228-190C>T (n.228-190C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45984081dup | CA2392429900 | COL6A1 | c.228-188dup (n.228-188dup) | dbSNP |
| 21 | g.45984083C= | CA2392429901 | COL6A1 | c.228-186C= (n.228-186C=) | |
| 21 | g.45984083C>T | CA1022876198 | COL6A1 | c.228-186C>T (n.228-186C>T) | dbSNP gnomAD v3 gnomAD v4 |