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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 |
|---|---|---|---|---|---|
| 15 | g.48468720_48468721insATTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTATTAGTC | CA969559091 | FBN1 | c.4460-182_4460-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAATGACTA (n.4460-182_4460-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAATGACTA) n.3134-182_3134-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAATGACTA c.*223-182_*223-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAATGACTA (n.*223-182_*223-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAATGACTA) | gnomAD v3 gnomAD v4 |
| 15 | g.48468763_48468764insATTAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGT | CA269552606 | FBN1 | c.4460-182_4460-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTA (n.4460-182_4460-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTA) n.3134-182_3134-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTA c.*223-182_*223-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTA (n.*223-182_*223-181insATACAAATTTGAATGGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468720C= | CA2175518544 | FBN1 | c.4460-186G= (n.4460-186G=) n.3134-186G= c.*223-186G= (n.*223-186G=) | |
| 15 | g.48468720C>G | CA713409697 | FBN1 | c.4460-186G>C (n.4460-186G>C) n.3134-186G>C c.*223-186G>C (n.*223-186G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468723T>C | CA269552629 | FBN1 | c.4460-189A>G (n.4460-189A>G) n.3134-189A>G c.*223-189A>G (n.*223-189A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468723T= | CA2175518545 | FBN1 | c.4460-189A= (n.4460-189A=) n.3134-189A= c.*223-189A= (n.*223-189A=) | |
| 15 | g.48468724G>C | CA969559096 | FBN1 | c.4460-190C>G (n.4460-190C>G) n.3134-190C>G c.*223-190C>G (n.*223-190C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468724G= | CA2175518546 | FBN1 | c.4460-190C= (n.4460-190C=) n.3134-190C= c.*223-190C= (n.*223-190C=) | |
| 15 | g.48468726T>A | CA969559098 | FBN1 | c.4460-192A>T (n.4460-192A>T) n.3134-192A>T c.*223-192A>T (n.*223-192A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468726T= | CA2175518547 | FBN1 | c.4460-192A= (n.4460-192A=) n.3134-192A= c.*223-192A= (n.*223-192A=) | |
| 15 | g.48468730C= | CA2175518548 | FBN1 | c.4460-196G= (n.4460-196G=) n.3134-196G= c.*223-196G= (n.*223-196G=) | |
| 15 | g.48468730C>G | CA713409702 | FBN1 | c.4460-196G>C (n.4460-196G>C) n.3134-196G>C c.*223-196G>C (n.*223-196G>C) | dbSNP |
| 15 | g.48468737C>A | CA2175518550 | FBN1 | c.4460-203G>T (n.4460-203G>T) n.3134-203G>T c.*223-203G>T (n.*223-203G>T) | dbSNP |
| 15 | g.48468737C= | CA2175518549 | FBN1 | c.4460-203G= (n.4460-203G=) n.3134-203G= c.*223-203G= (n.*223-203G=) | |
| 15 | g.48468763_48468764insATTAGTCTTTGGTGGTCTTTCCCAAGAACACATTTACCATTCAAATTTGT | CA617840460 | FBN1 | c.4460-204_4460-203insTGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGTAAATGTGTTCT (n.4460-204_4460-203insTGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGTAAATGTGTTCT) n.3134-204_3134-203insTGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGTAAATGTGTTCT c.*223-204_*223-203insTGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGTAAATGTGTTCT (n.*223-204_*223-203insTGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGTAAATGTGTTCT) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468742C= | CA2175518551 | FBN1 | c.4460-208G= (n.4460-208G=) n.3134-208G= c.*223-208G= (n.*223-208G=) | |
| 15 | g.48468742C>T | CA713409706 | FBN1 | c.4460-208G>A (n.4460-208G>A) n.3134-208G>A c.*223-208G>A (n.*223-208G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468744C= | CA2175518552 | FBN1 | c.4460-210G= (n.4460-210G=) n.3134-210G= c.*223-210G= (n.*223-210G=) | |
| 15 | g.48468744C>T | CA713409707 | FBN1 | c.4460-210G>A (n.4460-210G>A) n.3134-210G>A c.*223-210G>A (n.*223-210G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468747T>G | CA269552632 | FBN1 | c.4460-213A>C (n.4460-213A>C) n.3134-213A>C c.*223-213A>C (n.*223-213A>C) | dbSNP |
| 15 | g.48468747T= | CA2175518553 | FBN1 | c.4460-213A= (n.4460-213A=) n.3134-213A= c.*223-213A= (n.*223-213A=) | |
| 15 | g.48468748T= | CA2175518554 | FBN1 | c.4460-214A= (n.4460-214A=) n.3134-214A= c.*223-214A= (n.*223-214A=) | |
| 15 | g.48468763_48468764insATTAGTCTTTGGTGGTCTTTCCCCAGAACACATTAACCATTCAAATTTGT | CA969559103 | FBN1 | c.4460-215_4460-214insTAATGTGTTCTGGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGT (n.4460-215_4460-214insTAATGTGTTCTGGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGT) n.3134-215_3134-214insTAATGTGTTCTGGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGT c.*223-215_*223-214insTAATGTGTTCTGGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGT (n.*223-215_*223-214insTAATGTGTTCTGGGGAAAGACCACCAAAGACTAATACAAATTTGAATGGT) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468750C>A | CA617840492 | FBN1 | c.4460-216G>T (n.4460-216G>T) n.3134-216G>T c.*223-216G>T (n.*223-216G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468750C= | CA2175518555 | FBN1 | c.4460-216G= (n.4460-216G=) n.3134-216G= c.*223-216G= (n.*223-216G=) | |
| 15 | g.48468752A= | CA2175518556 | FBN1 | c.4460-218T= (n.4460-218T=) n.3134-218T= c.*223-218T= (n.*223-218T=) | |
| 15 | g.48468752A>G | CA713409713 | FBN1 | c.4460-218T>C (n.4460-218T>C) n.3134-218T>C c.*223-218T>C (n.*223-218T>C) | dbSNP |
| 15 | g.48468755C= | CA2175518557 | FBN1 | c.4460-221G= (n.4460-221G=) n.3134-221G= c.*223-221G= (n.*223-221G=) | |
| 15 | g.48468755C>G | CA269552639 | FBN1 | c.4460-221G>C (n.4460-221G>C) n.3134-221G>C c.*223-221G>C (n.*223-221G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468762G>A | CA2175518558 | FBN1 | c.4460-228C>T (n.4460-228C>T) n.3134-228C>T c.*223-228C>T (n.*223-228C>T) | dbSNP |
| 15 | g.48468762G= | CA2175518559 | FBN1 | c.4460-228C= (n.4460-228C=) n.3134-228C= c.*223-228C= (n.*223-228C=) | |
| 15 | g.48468763_48468764insATTAGTCTTTGGTGGTCTTTCCC | CA969559110 | FBN1 | c.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT (n.4460-230_4460-229insGGGAAAGACCACCAAAGACTAAT) n.3134-230_3134-229insGGGAAAGACCACCAAAGACTAAT c.*223-230_*223-229insGGGAAAGACCACCAAAGACTAAT (n.*223-230_*223-229insGGGAAAGACCACCAAAGACTAAT) | gnomAD v3 gnomAD v4 |
| 15 | g.48468763_48468764insATTAGTCTTTGGTGGTCTTTCCCCAGAACACATTTAC | CA969559113 | FBN1 | c.4460-230_4460-229insGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTAAT (n.4460-230_4460-229insGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTAAT) n.3134-230_3134-229insGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTAAT c.*223-230_*223-229insGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTAAT (n.*223-230_*223-229insGTAAATGTGTTCTGGGGAAAGACCACCAAAGACTAAT) | gnomAD v3 gnomAD v4 |
| 15 | g.48468764C= | CA2175518560 | FBN1 | c.4460-230G= (n.4460-230G=) n.3134-230G= c.*223-230G= (n.*223-230G=) | |
| 15 | g.48468764C>T | CA2175518561 | FBN1 | c.4460-230G>A (n.4460-230G>A) n.3134-230G>A c.*223-230G>A (n.*223-230G>A) | dbSNP |
| 15 | g.48468771A>G | CA2555648328 | FBN1 | c.4460-237T>C (n.4460-237T>C) n.3134-237T>C c.*223-237T>C (n.*223-237T>C) | |
| 15 | g.48468772T>C | CA269552641 | FBN1 | c.4460-238A>G (n.4460-238A>G) n.3134-238A>G c.*223-238A>G (n.*223-238A>G) | dbSNP |
| 15 | g.48468772T= | CA2175518562 | FBN1 | c.4460-238A= (n.4460-238A=) n.3134-238A= c.*223-238A= (n.*223-238A=) | |
| 15 | g.48468775A= | CA2175518563 | FBN1 | c.4460-241T= (n.4460-241T=) n.3134-241T= c.*223-241T= (n.*223-241T=) | |
| 15 | g.48468775A>C | CA269552647 | FBN1 | c.4460-241T>G (n.4460-241T>G) n.3134-241T>G c.*223-241T>G (n.*223-241T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468779T>C | CA2175518565 | FBN1 | c.4460-245A>G (n.4460-245A>G) n.3134-245A>G c.*223-245A>G (n.*223-245A>G) | dbSNP |
| 15 | g.48468779T= | CA2175518564 | FBN1 | c.4460-245A= (n.4460-245A=) n.3134-245A= c.*223-245A= (n.*223-245A=) | |
| 15 | g.48468781A= | CA2175518567 | FBN1 | c.4460-247T= (n.4460-247T=) n.3134-247T= c.*223-247T= (n.*223-247T=) | |
| 15 | g.48468781A>C | CA713409717 | FBN1 | c.4460-247T>G (n.4460-247T>G) n.3134-247T>G c.*223-247T>G (n.*223-247T>G) | dbSNP |
| 15 | g.48468781A>G | CA2175518566 | FBN1 | c.4460-247T>C (n.4460-247T>C) n.3134-247T>C c.*223-247T>C (n.*223-247T>C) | dbSNP |
| 15 | g.48468782C>T | CA2804071580 | FBN1 | c.4460-248G>A (n.4460-248G>A) n.3134-248G>A c.*223-248G>A (n.*223-248G>A) | |
| 15 | g.48468785T>C | CA269552650 | FBN1 | c.4460-251A>G (n.4460-251A>G) n.3134-251A>G c.*223-251A>G (n.*223-251A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468785T>G | CA269552651 | FBN1 | c.4460-251A>C (n.4460-251A>C) n.3134-251A>C c.*223-251A>C (n.*223-251A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468785T= | CA2175518568 | FBN1 | c.4460-251A= (n.4460-251A=) n.3134-251A= c.*223-251A= (n.*223-251A=) | |
| 15 | g.48468787G>A | CA2175518570 | FBN1 | c.4460-253C>T (n.4460-253C>T) n.3134-253C>T c.*223-253C>T (n.*223-253C>T) | dbSNP |
| 15 | g.48468787G= | CA2175518569 | FBN1 | c.4460-253C= (n.4460-253C=) n.3134-253C= c.*223-253C= (n.*223-253C=) | |
| 15 | g.48468790C= | CA2175518571 | FBN1 | c.4460-256G= (n.4460-256G=) n.3134-256G= c.*223-256G= (n.*223-256G=) | |
| 15 | g.48468790C>T | CA713409720 | FBN1 | c.4460-256G>A (n.4460-256G>A) n.3134-256G>A c.*223-256G>A (n.*223-256G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468791G>A | CA269552655 | FBN1 | c.4460-257C>T (n.4460-257C>T) n.3134-257C>T c.*223-257C>T (n.*223-257C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468791G>C | CA269552659 | FBN1 | c.4460-257C>G (n.4460-257C>G) n.3134-257C>G c.*223-257C>G (n.*223-257C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468791G= | CA2175518573 | FBN1 | c.4460-257C= (n.4460-257C=) n.3134-257C= c.*223-257C= (n.*223-257C=) | |
| 15 | g.48468791G>T | CA2175518572 | FBN1 | c.4460-257C>A (n.4460-257C>A) n.3134-257C>A c.*223-257C>A (n.*223-257C>A) | dbSNP |
| 15 | g.48468792G>T | CA2804071583 | FBN1 | c.4460-258C>A (n.4460-258C>A) n.3134-258C>A c.*223-258C>A (n.*223-258C>A) | |
| 15 | g.48468793G= | CA2175518574 | FBN1 | c.4460-259C= (n.4460-259C=) n.3134-259C= c.*223-259C= (n.*223-259C=) | |
| 15 | g.48468793G>T | CA269552667 | FBN1 | c.4460-259C>A (n.4460-259C>A) n.3134-259C>A c.*223-259C>A (n.*223-259C>A) | dbSNP |
| 15 | g.48468795A= | CA2175518575 | FBN1 | c.4460-261T= (n.4460-261T=) n.3134-261T= c.*223-261T= (n.*223-261T=) | |
| 15 | g.48468795A>G | CA269552674 | FBN1 | c.4460-261T>C (n.4460-261T>C) n.3134-261T>C c.*223-261T>C (n.*223-261T>C) | dbSNP |
| 15 | g.48468796C= | CA2175518576 | FBN1 | c.4460-262G= (n.4460-262G=) n.3134-262G= c.*223-262G= (n.*223-262G=) | |
| 15 | g.48468796C>T | CA14170172 | FBN1 | c.4460-262G>A (n.4460-262G>A) n.3134-262G>A c.*223-262G>A (n.*223-262G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468797G>A | CA713409729 | FBN1 | c.4460-263C>T (n.4460-263C>T) n.3134-263C>T c.*223-263C>T (n.*223-263C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468797G>C | CA2175518578 | FBN1 | c.4460-263C>G (n.4460-263C>G) n.3134-263C>G c.*223-263C>G (n.*223-263C>G) | dbSNP |
| 15 | g.48468797G= | CA2175518577 | FBN1 | c.4460-263C= (n.4460-263C=) n.3134-263C= c.*223-263C= (n.*223-263C=) | |
| 15 | g.48468804C= | CA2175518579 | FBN1 | c.4460-270G= (n.4460-270G=) n.3134-270G= c.*223-270G= (n.*223-270G=) | |
| 15 | g.48468804C>T | CA713409730 | FBN1 | c.4460-270G>A (n.4460-270G>A) n.3134-270G>A c.*223-270G>A (n.*223-270G>A) | dbSNP |
| 15 | g.48468806C>A | CA969559128 | FBN1 | c.4460-272G>T (n.4460-272G>T) n.3134-272G>T c.*223-272G>T (n.*223-272G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468806C= | CA2175518580 | FBN1 | c.4460-272G= (n.4460-272G=) n.3134-272G= c.*223-272G= (n.*223-272G=) | |
| 15 | g.48468806C>T | CA269552701 | FBN1 | c.4460-272G>A (n.4460-272G>A) n.3134-272G>A c.*223-272G>A (n.*223-272G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468807G>A | CA713409733 | FBN1 | c.4460-273C>T (n.4460-273C>T) n.3134-273C>T c.*223-273C>T (n.*223-273C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468807G= | CA2175518581 | FBN1 | c.4460-273C= (n.4460-273C=) n.3134-273C= c.*223-273C= (n.*223-273C=) | |
| 15 | g.48468808C= | CA2175518582 | FBN1 | c.4460-274G= (n.4460-274G=) n.3134-274G= c.*223-274G= (n.*223-274G=) | |
| 15 | g.48468808C>T | CA2175518583 | FBN1 | c.4460-274G>A (n.4460-274G>A) n.3134-274G>A c.*223-274G>A (n.*223-274G>A) | dbSNP |
| 15 | g.48468809C>A | CA269552703 | FBN1 | c.4460-275G>T (n.4460-275G>T) n.3134-275G>T c.*223-275G>T (n.*223-275G>T) | dbSNP |
| 15 | g.48468809C= | CA2175518584 | FBN1 | c.4460-275G= (n.4460-275G=) n.3134-275G= c.*223-275G= (n.*223-275G=) | |
| 15 | g.48468811G>A | CA713409734 | FBN1 | c.4460-277C>T (n.4460-277C>T) n.3134-277C>T c.*223-277C>T (n.*223-277C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468811G= | CA2175518585 | FBN1 | c.4460-277C= (n.4460-277C=) n.3134-277C= c.*223-277C= (n.*223-277C=) | |
| 15 | g.48468815T>C | CA269552709 | FBN1 | c.4460-281A>G (n.4460-281A>G) n.3134-281A>G c.*223-281A>G (n.*223-281A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48468815T= | CA2175518586 | FBN1 | c.4460-281A= (n.4460-281A=) n.3134-281A= c.*223-281A= (n.*223-281A=) | |
| 15 | g.48468817C>T | CA2804071588 | FBN1 | c.4460-283G>A (n.4460-283G>A) n.3134-283G>A c.*223-283G>A (n.*223-283G>A) | |
| 15 | g.48468818C= | CA2175518587 | FBN1 | c.4460-284G= (n.4460-284G=) n.3134-284G= c.*223-284G= (n.*223-284G=) | |
| 15 | g.48468818C>T | CA713409737 | FBN1 | c.4460-284G>A (n.4460-284G>A) n.3134-284G>A c.*223-284G>A (n.*223-284G>A) | dbSNP |
| 15 | g.48468819A= | CA2175518588 | FBN1 | c.4460-285T= (n.4460-285T=) n.3134-285T= c.*223-285T= (n.*223-285T=) | |
| 15 | g.48468819A>C | CA713409739 | FBN1 | c.4460-285T>G (n.4460-285T>G) n.3134-285T>G c.*223-285T>G (n.*223-285T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468819A>G | CA2175518589 | FBN1 | c.4460-285T>C (n.4460-285T>C) n.3134-285T>C c.*223-285T>C (n.*223-285T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48468820G>A | CA969559162 | FBN1 | c.4460-286C>T (n.4460-286C>T) n.3134-286C>T c.*223-286C>T (n.*223-286C>T) | gnomAD v3 gnomAD v4 |