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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows 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 |
|---|---|---|---|---|---|
| 15 | g.48610981C= | CA2175573619 | FBN1 | c.248-155G= (n.248-155G=) | |
| 15 | g.48610981C>T | CA2175573620 | FBN1 | c.248-155G>A (n.248-155G>A) | dbSNP |
| 15 | g.48610984A>G | CA2804074472 | FBN1 | c.248-158T>C (n.248-158T>C) | |
| 15 | g.48610989G= | CA2175573621 | FBN1 | c.248-163C= (n.248-163C=) | |
| 15 | g.48610989G>T | CA969556528 | FBN1 | c.248-163C>A (n.248-163C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610991C= | CA2175573622 | FBN1 | c.248-165G= (n.248-165G=) | |
| 15 | g.48610991C>T | CA617942681 | FBN1 | c.248-165G>A (n.248-165G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610993A= | CA2175573623 | FBN1 | c.248-167T= (n.248-167T=) | |
| 15 | g.48610993A>C | CA2175573624 | FBN1 | c.248-167T>G (n.248-167T>G) | dbSNP |
| 15 | g.48610993A>G | CA713374153 | FBN1 | c.248-167T>C (n.248-167T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610994T>C | CA2175573625 | FBN1 | c.248-168A>G (n.248-168A>G) | dbSNP |
| 15 | g.48610994T= | CA2175573626 | FBN1 | c.248-168A= (n.248-168A=) | |
| 15 | g.48610999_48611003delinsCTAAA | CA2175573627 | FBN1 | c.248-177_248-173delinsTTTAG (n.248-177_248-173delinsTTTAG) | |
| 15 | g.48611000_48611001delinsTA | CA2175573629 | FBN1 | c.248-175_248-174delinsTA (n.248-175_248-174delinsTA) | |
| 15 | g.48611004_48611007del | CA2175573628 | FBN1 | c.248-177_248-174del (n.248-177_248-174del) | dbSNP |
| 15 | g.48611003del | CA617942682 | FBN1 | c.248-175del (n.248-175del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48611004T>C | CA2804074473 | FBN1 | c.248-178A>G (n.248-178A>G) | |
| 15 | g.48611021A= | CA2175573630 | FBN1 | c.248-195T= (n.248-195T=) | |
| 15 | g.48611021A>G | CA2175573631 | FBN1 | c.248-195T>C (n.248-195T>C) | dbSNP |
| 15 | g.48611023C>A | CA713374158 | FBN1 | c.248-197G>T (n.248-197G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48611023C= | CA2175573632 | FBN1 | c.248-197G= (n.248-197G=) | |
| 15 | g.48611024C= | CA2175573633 | FBN1 | c.248-198G= (n.248-198G=) | |
| 15 | g.48611024C>T | CA270059292 | FBN1 | c.248-198G>A (n.248-198G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48611026C>A | CA270059293 | FBN1 | c.248-200G>T (n.248-200G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48611026C= | CA2175573634 | FBN1 | c.248-200G= (n.248-200G=) | |
| 15 | g.48611028A= | CA2175573635 | FBN1 | c.248-202T= (n.248-202T=) | |
| 15 | g.48611028A>G | CA270059295 | FBN1 | c.248-202T>C (n.248-202T>C) | dbSNP |
| 15 | g.48611029C= | CA2175573636 | FBN1 | c.248-203G= (n.248-203G=) | |
| 15 | g.48611029C>T | CA713374161 | FBN1 | c.248-203G>A (n.248-203G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48611030T>C | CA2730788948 | FBN1 | c.248-204A>G (n.248-204A>G) | dbSNP |
| 15 | g.48611032C= | CA2175573637 | FBN1 | c.248-206G= (n.248-206G=) | |
| 15 | g.48611032C>T | CA2175573638 | FBN1 | c.248-206G>A (n.248-206G>A) | dbSNP |
| 15 | g.48611041G>A | CA2175573640 | FBN1 | c.248-215C>T (n.248-215C>T) | dbSNP |
| 15 | g.48611041G= | CA2175573639 | FBN1 | c.248-215C= (n.248-215C=) | |
| 15 | g.48611043C>A | CA2730604203 | FBN1 | c.248-217G>T (n.248-217G>T) | dbSNP |
| 15 | g.48611043C= | CA2175573641 | FBN1 | c.248-217G= (n.248-217G=) | |
| 15 | g.48611043C>T | CA713374165 | FBN1 | c.248-217G>A (n.248-217G>A) | dbSNP |
| 15 | g.48611045C= | CA2175573642 | FBN1 | c.248-219G= (n.248-219G=) | |
| 15 | g.48611045C>T | CA270059296 | FBN1 | c.248-219G>A (n.248-219G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48611046G>A | CA270059297 | FBN1 | c.248-220C>T (n.248-220C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48611046G>C | CA2506603907 | FBN1 | c.248-220C>G (n.248-220C>G) | |
| 15 | g.48611046G= | CA2175573643 | FBN1 | c.248-220C= (n.248-220C=) | |
| 15 | g.48611058C= | CA2175573644 | FBN1 | c.248-232G= (n.248-232G=) | |
| 15 | g.48611058C>G | CA969556559 | FBN1 | c.248-232G>C (n.248-232G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48611058C>T | CA270059302 | FBN1 | c.248-232G>A (n.248-232G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48611062T>C | CA270059304 | FBN1 | c.248-236A>G (n.248-236A>G) | dbSNP |
| 15 | g.48611062T= | CA2175573645 | FBN1 | c.248-236A= (n.248-236A=) | |
| 15 | g.48611064T>C | CA270059308 | FBN1 | c.248-238A>G (n.248-238A>G) | dbSNP |
| 15 | g.48611064T>G | CA2175573646 | FBN1 | c.248-238A>C (n.248-238A>C) | dbSNP |
| 15 | g.48611064T= | CA2175573647 | FBN1 | c.248-238A= (n.248-238A=) | |
| 15 | g.48611066T>G | CA270059313 | FBN1 | c.248-240A>C (n.248-240A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48611066T= | CA2175573648 | FBN1 | c.248-240A= (n.248-240A=) | |
| 15 | g.48611070T>C | CA2175573650 | FBN1 | c.248-244A>G (n.248-244A>G) | dbSNP |
| 15 | g.48611070T= | CA2175573649 | FBN1 | c.248-244A= (n.248-244A=) | |
| 15 | g.48611074C= | CA2175573651 | FBN1 | c.248-248G= (n.248-248G=) | |
| 15 | g.48611074C>G | CA2175573652 | FBN1 | c.248-248G>C (n.248-248G>C) | dbSNP |
| 15 | g.48611074C>T | CA270059314 | FBN1 | c.248-248G>A (n.248-248G>A) | dbSNP |
| 15 | g.48611075C= | CA2175573653 | FBN1 | c.248-249G= (n.248-249G=) | |
| 15 | g.48611075C>T | CA2175573654 | FBN1 | c.248-249G>A (n.248-249G>A) | dbSNP |
| 15 | g.48611077C= | CA2175573655 | FBN1 | c.248-251G= (n.248-251G=) | |
| 15 | g.48611077C>T | CA969556563 | FBN1 | c.248-251G>A (n.248-251G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48611081A= | CA2175573656 | FBN1 | c.248-255T= (n.248-255T=) | |
| 15 | g.48611081A>G | CA270059319 | FBN1 | c.248-255T>C (n.248-255T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |