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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 |
|---|---|---|---|---|---|
| 17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT | |
| 17 | g.50198878C= | CA2263920455 | COL1A1 | c.471+348G= (n.471+348G=) | |
| 17 | g.50198878C>T | CA984451684 | COL1A1 | c.471+348G>A (n.471+348G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198879G>A | CA291550137 | COL1A1 | c.471+347C>T (n.471+347C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198879G>C | CA2263920456 | COL1A1 | c.471+347C>G (n.471+347C>G) | dbSNP |
| 17 | g.50198879G= | CA2263920457 | COL1A1 | c.471+347C= (n.471+347C=) | |
| 17 | g.50198881T>A | CA2809770983 | COL1A1 | c.471+345A>T (n.471+345A>T) | |
| 17 | g.50198881T>C | CA772776221 | COL1A1 | c.471+345A>G (n.471+345A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198881T= | CA2263920458 | COL1A1 | c.471+345A= (n.471+345A=) | |
| 17 | g.50198885_50198886delinsCT | CA2263920459 | COL1A1 | c.471+340_471+341delinsAG (n.471+340_471+341delinsAG) | |
| 17 | g.50198888del | CA984451695 | COL1A1 | c.471+340del (n.471+340del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198891A= | CA2263920460 | COL1A1 | c.471+335T= (n.471+335T=) | |
| 17 | g.50198891A>C | CA2263920461 | COL1A1 | c.471+335T>G (n.471+335T>G) | dbSNP |
| 17 | g.50198891A>G | CA14450307 | COL1A1 | c.471+335T>C (n.471+335T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198894C= | CA2263920462 | COL1A1 | c.471+332G= (n.471+332G=) | |
| 17 | g.50198894C>G | CA2521303473 | COL1A1 | c.471+332G>C (n.471+332G>C) | |
| 17 | g.50198894C>T | CA291550144 | COL1A1 | c.471+332G>A (n.471+332G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198895G>A | CA291550146 | COL1A1 | c.471+331C>T (n.471+331C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198895G= | CA2263920463 | COL1A1 | c.471+331C= (n.471+331C=) | |
| 17 | g.50198895G>T | CA2809770984 | COL1A1 | c.471+331C>A (n.471+331C>A) | |
| 17 | g.50198897A= | CA2263920464 | COL1A1 | c.471+329T= (n.471+329T=) | |
| 17 | g.50198897A>G | CA772776229 | COL1A1 | c.471+329T>C (n.471+329T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198898C>A | CA2809770985 | COL1A1 | c.471+328G>T (n.471+328G>T) | |
| 17 | g.50198905T>G | CA984451703 | COL1A1 | c.471+321A>C (n.471+321A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198905T= | CA2263920465 | COL1A1 | c.471+321A= (n.471+321A=) | |
| 17 | g.50198906T>C | CA772776232 | COL1A1 | c.471+320A>G (n.471+320A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198906T= | CA2263920466 | COL1A1 | c.471+320A= (n.471+320A=) | |
| 17 | g.50198909A= | CA2263920467 | COL1A1 | c.471+317T= (n.471+317T=) | |
| 17 | g.50198909A>C | CA772776234 | COL1A1 | c.471+317T>G (n.471+317T>G) | dbSNP |
| 17 | g.50198910G>A | CA2263920469 | COL1A1 | c.471+316C>T (n.471+316C>T) | dbSNP |
| 17 | g.50198910G= | CA2263920468 | COL1A1 | c.471+316C= (n.471+316C=) | |
| 17 | g.50198911A= | CA2263920470 | COL1A1 | c.471+315T= (n.471+315T=) | |
| 17 | g.50198911A>G | CA984451706 | COL1A1 | c.471+315T>C (n.471+315T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198913T>A | CA2733682586 | COL1A1 | c.471+313A>T (n.471+313A>T) | dbSNP |
| 17 | g.50198913T>C | CA2263920472 | COL1A1 | c.471+313A>G (n.471+313A>G) | dbSNP |
| 17 | g.50198913T= | CA2263920471 | COL1A1 | c.471+313A= (n.471+313A=) | |
| 17 | g.50198923C= | CA2263920473 | COL1A1 | c.471+303G= (n.471+303G=) | |
| 17 | g.50198923C>T | CA984451709 | COL1A1 | c.471+303G>A (n.471+303G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198927G>A | CA2809770986 | COL1A1 | c.471+299C>T (n.471+299C>T) | |
| 17 | g.50198930T>C | CA984451711 | COL1A1 | c.471+296A>G (n.471+296A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198930T= | CA2263920474 | COL1A1 | c.471+296A= (n.471+296A=) | |
| 17 | g.50198932G>A | CA984451714 | COL1A1 | c.471+294C>T (n.471+294C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198932G= | CA2263920475 | COL1A1 | c.471+294C= (n.471+294C=) | |
| 17 | g.50198933G>A | CA984451716 | COL1A1 | c.471+293C>T (n.471+293C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198933G= | CA2263920476 | COL1A1 | c.471+293C= (n.471+293C=) | |
| 17 | g.50198936A= | CA2263920477 | COL1A1 | c.471+290T= (n.471+290T=) | |
| 17 | g.50198936A>C | CA291550148 | COL1A1 | c.471+290T>G (n.471+290T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198946A= | CA2263920478 | COL1A1 | c.471+280T= (n.471+280T=) | |
| 17 | g.50198946A>C | CA626486238 | COL1A1 | c.471+280T>G (n.471+280T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198949C= | CA2263920479 | COL1A1 | c.471+277G= (n.471+277G=) | |
| 17 | g.50198949C>T | CA291550152 | COL1A1 | c.471+277G>A (n.471+277G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198951_50198953delinsCTT | CA2263920480 | COL1A1 | c.471+273_471+275delinsAAG (n.471+273_471+275delinsAAG) | |
| 17 | g.50198952T>C | CA984451720 | COL1A1 | c.471+274A>G (n.471+274A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198952T= | CA2263920481 | COL1A1 | c.471+274A= (n.471+274A=) | |
| 17 | g.50198952_50198953del | CA919856729 | COL1A1 | c.471+273_471+274del (n.471+273_471+274del) | dbSNP |
| 17 | g.50198953T>C | CA2263920483 | COL1A1 | c.471+273A>G (n.471+273A>G) | dbSNP |
| 17 | g.50198953T= | CA2263920482 | COL1A1 | c.471+273A= (n.471+273A=) | |
| 17 | g.50198965A>C | CA2733839745 | COL1A1 | c.471+261T>G (n.471+261T>G) | dbSNP |
| 17 | g.50198968C= | CA2263920484 | COL1A1 | c.471+258G= (n.471+258G=) | |
| 17 | g.50198968C>T | CA2263920485 | COL1A1 | c.471+258G>A (n.471+258G>A) | dbSNP |
| 17 | g.50198971A= | CA2263920486 | COL1A1 | c.471+255T= (n.471+255T=) | |
| 17 | g.50198971A>C | CA2263920487 | COL1A1 | c.471+255T>G (n.471+255T>G) | dbSNP |
| 17 | g.50198972C= | CA2263920488 | COL1A1 | c.471+254G= (n.471+254G=) | |
| 17 | g.50198972C>T | CA2263920489 | COL1A1 | c.471+254G>A (n.471+254G>A) | dbSNP |
| 17 | g.50198973C= | CA2263920490 | COL1A1 | c.471+253G= (n.471+253G=) | |
| 17 | g.50198973C>T | CA291550157 | COL1A1 | c.471+253G>A (n.471+253G>A) | dbSNP |
| 17 | g.50198974_50198990delinsTAAGTATTTAGGCGCAA | CA2263920491 | COL1A1 | c.471+236_471+252delinsTTGCGCCTAAATACTTA (n.471+236_471+252delinsTTGCGCCTAAATACTTA) | |
| 17 | g.50198978_50198993del | CA772776240 | COL1A1 | c.471+236_471+251del (n.471+236_471+251del) | dbSNP |
| 17 | g.50198977G>A | CA772776243 | COL1A1 | c.471+249C>T (n.471+249C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198977G= | CA2263920493 | COL1A1 | c.471+249C= (n.471+249C=) | |
| 17 | g.50198977_50198981delinsGTATT | CA2263920492 | COL1A1 | c.471+245_471+249delinsAATAC (n.471+245_471+249delinsAATAC) |