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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.50198832_50198837delinsTTGGGG | CA2263920438 | COL1A1 | c.472-333_472-328delinsCCCCAA (n.472-333_472-328delinsCCCCAA) | |
| 17 | g.50198833T>A | CA2638681012 | COL1A1 | c.472-329A>T (n.472-329A>T) | gnomAD v4 |
| 17 | g.50198833T>C | CA2638681011 | COL1A1 | c.472-329A>G (n.472-329A>G) | gnomAD v4 |
| 17 | g.50198833T>G | CA2638681009 | COL1A1 | c.472-329A>C (n.472-329A>C) | gnomAD v4 |
| 17 | g.50198836_50198840del | CA772776198 | COL1A1 | c.472-333_472-329del (n.472-333_472-329del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198834G>A | CA2638681022 | COL1A1 | c.472-330C>T (n.472-330C>T) | gnomAD v4 |
| 17 | g.50198834G>T | CA2638681023 | COL1A1 | c.472-330C>A (n.472-330C>A) | gnomAD v4 |
| 17 | g.50198837del | CA2638681017 | COL1A1 | c.472-330del (n.472-330del) | gnomAD v4 |
| 17 | g.50198841_50198850del | CA2638681021 | COL1A1 | c.472-339_472-330del (n.472-339_472-330del) | gnomAD v4 |
| 17 | g.50198835G>A | CA2638681027 | COL1A1 | c.472-331C>T (n.472-331C>T) | gnomAD v4 |
| 17 | g.50198835G>T | CA2638681028 | COL1A1 | c.472-331C>A (n.472-331C>A) | gnomAD v4 |
| 17 | g.50198836G>T | CA2638681031 | COL1A1 | c.472-332C>A (n.472-332C>A) | gnomAD v4 |
| 17 | g.50198841_50198843del | CA2638681030 | COL1A1 | c.472-334_472-332del (n.472-334_472-332del) | gnomAD v4 |
| 17 | g.50198837G>A | CA291548526 | COL1A1 | c.472-333C>T (n.472-333C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198837G= | CA2263920439 | COL1A1 | c.472-333C= (n.472-333C=) | |
| 17 | g.50198838T>C | CA2638681033 | COL1A1 | c.472-334A>G (n.472-334A>G) | gnomAD v4 |
| 17 | g.50198838T>G | CA2638681035 | COL1A1 | c.472-334A>C (n.472-334A>C) | gnomAD v4 |
| 17 | g.50198839G>A | CA2638681038 | COL1A1 | c.472-335C>T (n.472-335C>T) | gnomAD v4 |
| 17 | g.50198839G>T | CA2638681039 | COL1A1 | c.472-335C>A (n.472-335C>A) | gnomAD v4 |
| 17 | g.50198840G>A | CA2638681042 | COL1A1 | c.472-336C>T (n.472-336C>T) | gnomAD v4 |
| 17 | g.50198840G>T | CA2638681040 | COL1A1 | c.472-336C>A (n.472-336C>A) | dbSNP gnomAD v4 |
| 17 | g.50198841T>C | CA2638681043 | COL1A1 | c.472-337A>G (n.472-337A>G) | gnomAD v4 |
| 17 | g.50198841T>G | CA2638681044 | COL1A1 | c.472-337A>C (n.472-337A>C) | gnomAD v4 |
| 17 | g.50198842G>A | CA2638681059 | COL1A1 | c.472-338C>T (n.472-338C>T) | gnomAD v4 |
| 17 | g.50198842G= | CA2263920440 | COL1A1 | c.472-338C= (n.472-338C=) | |
| 17 | g.50198842G>T | CA772776199 | COL1A1 | c.472-338C>A (n.472-338C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198847dup | CA2638681047 | COL1A1 | c.472-338dup (n.472-338dup) | gnomAD v4 |
| 17 | g.50198846_50198847dup | CA2638681050 | COL1A1 | c.472-339_472-338dup (n.472-339_472-338dup) | gnomAD v4 |
| 17 | g.50198847del | CA2638681052 | COL1A1 | c.472-338del (n.472-338del) | gnomAD v4 |
| 17 | g.50198846_50198847del | CA2638681057 | COL1A1 | c.472-339_472-338del (n.472-339_472-338del) | gnomAD v4 |
| 17 | g.50198843G>A | CA2809770981 | COL1A1 | c.472-339C>T (n.472-339C>T) | |
| 17 | g.50198843G>T | CA2638681064 | COL1A1 | c.472-339C>A (n.472-339C>A) | gnomAD v4 |
| 17 | g.50198844G>A | CA772776206 | COL1A1 | c.472-340C>T (n.472-340C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198844G>C | CA2638681068 | COL1A1 | c.472-340C>G (n.472-340C>G) | gnomAD v4 |
| 17 | g.50198844G= | CA2263920441 | COL1A1 | c.472-340C= (n.472-340C=) | |
| 17 | g.50198844G>T | CA2638681074 | COL1A1 | c.472-340C>A (n.472-340C>A) | gnomAD v4 |
| 17 | g.50198845G>A | CA2638681076 | COL1A1 | c.472-341C>T (n.472-341C>T) | gnomAD v4 |
| 17 | g.50198845G>T | CA2638681078 | COL1A1 | c.472-341C>A (n.472-341C>A) | gnomAD v4 |
| 17 | g.50198846G>A | CA2638681082 | COL1A1 | c.472-342C>T (n.472-342C>T) | gnomAD v4 |
| 17 | g.50198846G>T | CA2638681081 | COL1A1 | c.472-342C>A (n.472-342C>A) | gnomAD v4 |
| 17 | g.50198847G>A | CA500852114 | COL1A1 | c.472-343C>T (n.472-343C>T) | gnomAD v4 |
| 17 | g.50198848T>A | CA2638681085 | COL1A1 | c.472-344A>T (n.472-344A>T) | gnomAD v4 |
| 17 | g.50198849G>A | CA2638681087 | COL1A1 | c.472-345C>T (n.472-345C>T) | gnomAD v4 |
| 17 | g.50198849G>T | CA2638681088 | COL1A1 | c.472-345C>A (n.472-345C>A) | gnomAD v4 |
| 17 | g.50198850G>A | CA2638681089 | COL1A1 | c.472-346C>T (n.472-346C>T) | gnomAD v4 |
| 17 | g.50198850G>T | CA2638681091 | COL1A1 | c.472-346C>A (n.472-346C>A) | gnomAD v4 |
| 17 | g.50198851A>T | CA2638681092 | COL1A1 | c.472-347T>A (n.472-347T>A) | gnomAD v4 |
| 17 | g.50198852A= | CA2263920442 | COL1A1 | c.472-348T= (n.472-348T=) | |
| 17 | g.50198852A>C | CA2638681096 | COL1A1 | c.472-348T>G (n.472-348T>G) | gnomAD v4 |
| 17 | g.50198852A>G | CA2638681098 | COL1A1 | c.472-348T>C (n.472-348T>C) | gnomAD v4 |
| 17 | g.50198852A>T | CA2263920443 | COL1A1 | c.472-348T>A (n.472-348T>A) | dbSNP |
| 17 | g.50198853T>C | CA2809770982 | COL1A1 | c.472-349A>G (n.472-349A>G) | |
| 17 | g.50198854C= | CA2263920444 | COL1A1 | c.472-350G= (n.472-350G=) | |
| 17 | g.50198854C>T | CA291548535 | COL1A1 | c.472-350G>A (n.472-350G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198855T>C | CA772776212 | COL1A1 | c.472-351A>G (n.472-351A>G) | dbSNP |
| 17 | g.50198855T= | CA2263920445 | COL1A1 | c.472-351A= (n.472-351A=) | |
| 17 | g.50198858A>T | CA2733839730 | COL1A1 | c.472-354T>A (n.472-354T>A) | dbSNP |
| 17 | g.50198860A= | CA2263920446 | COL1A1 | c.472-356T= (n.472-356T=) | |
| 17 | g.50198860A>G | CA291548539 | COL1A1 | c.472-356T>C (n.472-356T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198862G= | CA2263920447 | COL1A1 | c.472-358C= (n.472-358C=) | |
| 17 | g.50198862G>T | CA2263920448 | COL1A1 | c.472-358C>A (n.472-358C>A) | dbSNP |
| 17 | g.50198865A= | CA2263920449 | COL1A1 | c.472-361T= (n.472-361T=) | |
| 17 | g.50198865A>G | CA2263920450 | COL1A1 | c.472-361T>C (n.472-361T>C) | dbSNP |
| 17 | g.50198870C= | CA2263920451 | COL1A1 | c.471+356G= (n.471+356G=) | |
| 17 | g.50198870C>T | CA291548542 | COL1A1 | c.471+356G>A (n.471+356G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198871G>A | CA291548545 | COL1A1 | c.471+355C>T (n.471+355C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198871G>C | CA2263920453 | COL1A1 | c.471+355C>G (n.471+355C>G) | dbSNP |
| 17 | g.50198871G= | CA2263920452 | COL1A1 | c.471+355C= (n.471+355C=) | |
| 17 | g.50198872G>A | CA2595039659 | COL1A1 | c.471+354C>T (n.471+354C>T) | dbSNP gnomAD v3 |
| 17 | g.50198873G>A | CA291548546 | COL1A1 | c.471+353C>T (n.471+353C>T) | dbSNP |
| 17 | g.50198873G= | CA2263920454 | COL1A1 | c.471+353C= (n.471+353C=) | |
| 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=) |