OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116119932G>A | CA2680093492 | COL10A1,NT5DC1 | c.529+1987G>A (n.529+1987G>A) c.*141C>T (n.*141C>T) c.27+1987G>A | gnomAD v4 |
| 6 | g.116119932G= | CA1657093093 | COL10A1,NT5DC1 | c.529+1987G= (n.529+1987G=) c.*141C= (n.*141C=) c.27+1987G= | |
| 6 | g.116119932G>T | CA817679423 | COL10A1,NT5DC1 | c.529+1987G>T (n.529+1987G>T) c.*141C>A (n.*141C>A) c.27+1987G>T | dbSNP gnomAD v4 |
| 6 | g.116119936_116119940del | CA2680093493 | COL10A1,NT5DC1 | c.529+1991_529+1995del (n.529+1991_529+1995del) c.*135_*139del (n.*135_*139del) c.27+1991_27+1995del | gnomAD v4 |
| 6 | g.116119935G>T | CA2680093494 | COL10A1,NT5DC1 | c.529+1990G>T (n.529+1990G>T) c.*138C>A (n.*138C>A) c.27+1990G>T | gnomAD v4 |
| 6 | g.116119936G>A | CA145907892 | COL10A1,NT5DC1 | c.529+1991G>A (n.529+1991G>A) c.*137C>T (n.*137C>T) c.27+1991G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116119936G= | CA1657093094 | COL10A1,NT5DC1 | c.529+1991G= (n.529+1991G=) c.*137C= (n.*137C=) c.27+1991G= | |
| 6 | g.116119936G>T | CA2680093495 | COL10A1,NT5DC1 | c.529+1991G>T (n.529+1991G>T) c.*137C>A (n.*137C>A) c.27+1991G>T | gnomAD v4 |
| 6 | g.116119937T>G | CA2680093496 | COL10A1,NT5DC1 | c.529+1992T>G (n.529+1992T>G) c.*136A>C (n.*136A>C) c.27+1992T>G | gnomAD v4 |
| 6 | g.116119938C>A | CA2519692689 | COL10A1,NT5DC1 | c.529+1993C>A (n.529+1993C>A) c.*135G>T (n.*135G>T) c.27+1993C>A | gnomAD v4 |
| 6 | g.116119939T>C | CA2680093497 | COL10A1,NT5DC1 | c.529+1994T>C (n.529+1994T>C) c.*134A>G (n.*134A>G) c.27+1994T>C | gnomAD v4 |
| 6 | g.116119940G>C | CA145907900 | COL10A1,NT5DC1 | c.529+1995G>C (n.529+1995G>C) c.*133C>G (n.*133C>G) c.27+1995G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119940G= | CA1657093095 | COL10A1,NT5DC1 | c.529+1995G= (n.529+1995G=) c.*133C= (n.*133C=) c.27+1995G= | |
| 6 | g.116119940G>T | CA2680093498 | COL10A1,NT5DC1 | c.529+1995G>T (n.529+1995G>T) c.*133C>A (n.*133C>A) c.27+1995G>T | gnomAD v4 |
| 6 | g.116119941A>C | CA2680093499 | COL10A1,NT5DC1 | c.529+1996A>C (n.529+1996A>C) c.*132T>G (n.*132T>G) c.27+1996A>C | gnomAD v4 |
| 6 | g.116119943A>G | CA2680093500 | COL10A1,NT5DC1 | c.529+1998A>G (n.529+1998A>G) c.*130T>C (n.*130T>C) c.27+1998A>G | gnomAD v4 |
| 6 | g.116119943A>T | CA2680093501 | COL10A1,NT5DC1 | c.529+1998A>T (n.529+1998A>T) c.*130T>A (n.*130T>A) c.27+1998A>T | gnomAD v4 |
| 6 | g.116119944G>A | CA817679432 | COL10A1,NT5DC1 | c.529+1999G>A (n.529+1999G>A) c.*129C>T (n.*129C>T) c.27+1999G>A | dbSNP gnomAD v4 |
| 6 | g.116119944G= | CA1657093096 | COL10A1,NT5DC1 | c.529+1999G= (n.529+1999G=) c.*129C= (n.*129C=) c.27+1999G= | |
| 6 | g.116119944G>T | CA2680093502 | COL10A1,NT5DC1 | c.529+1999G>T (n.529+1999G>T) c.*129C>A (n.*129C>A) c.27+1999G>T | gnomAD v4 |
| 6 | g.116119946T>C | CA2680093503 | COL10A1,NT5DC1 | c.529+2001T>C (n.529+2001T>C) c.*127A>G (n.*127A>G) c.27+2001T>C | gnomAD v4 |
| 6 | g.116119947C>A | CA2680093504 | COL10A1,NT5DC1 | c.529+2002C>A (n.529+2002C>A) c.*126G>T (n.*126G>T) c.27+2002C>A | gnomAD v4 |
| 6 | g.116119947C>T | CA2680093505 | COL10A1,NT5DC1 | c.529+2002C>T (n.529+2002C>T) c.*126G>A (n.*126G>A) c.27+2002C>T | gnomAD v4 |
| 6 | g.116119949A= | CA1657093097 | COL10A1,NT5DC1 | c.529+2004A= (n.529+2004A=) c.*124T= (n.*124T=) c.27+2004A= | |
| 6 | g.116119949A>C | CA1093500463 | COL10A1,NT5DC1 | c.529+2004A>C (n.529+2004A>C) c.*124T>G (n.*124T>G) c.27+2004A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119949A>G | CA2680093506 | COL10A1,NT5DC1 | c.529+2004A>G (n.529+2004A>G) c.*124T>C (n.*124T>C) c.27+2004A>G | gnomAD v4 |
| 6 | g.116119950A>G | CA2680093507 | COL10A1,NT5DC1 | c.529+2005A>G (n.529+2005A>G) c.*123T>C (n.*123T>C) c.27+2005A>G | gnomAD v4 |
| 6 | g.116119952C>A | CA2680093508 | COL10A1,NT5DC1 | c.529+2007C>A (n.529+2007C>A) c.*121G>T (n.*121G>T) c.27+2007C>A | gnomAD v4 |
| 6 | g.116119952C= | CA1657093098 | COL10A1,NT5DC1 | c.529+2007C= (n.529+2007C=) c.*121G= (n.*121G=) c.27+2007C= | |
| 6 | g.116119952C>G | CA145907911 | COL10A1,NT5DC1 | c.529+2007C>G (n.529+2007C>G) c.*121G>C (n.*121G>C) c.27+2007C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119953T>A | CA2680093509 | COL10A1,NT5DC1 | c.529+2008T>A (n.529+2008T>A) c.*120A>T (n.*120A>T) c.27+2008T>A | gnomAD v4 |
| 6 | g.116119953T>C | CA2680093510 | COL10A1,NT5DC1 | c.529+2008T>C (n.529+2008T>C) c.*120A>G (n.*120A>G) c.27+2008T>C | gnomAD v4 |
| 6 | g.116119953T>G | CA2680093511 | COL10A1,NT5DC1 | c.529+2008T>G (n.529+2008T>G) c.*120A>C (n.*120A>C) c.27+2008T>G | gnomAD v4 |
| 6 | g.116119954G>A | CA2680093512 | COL10A1,NT5DC1 | c.529+2009G>A (n.529+2009G>A) c.*119C>T (n.*119C>T) c.27+2009G>A | gnomAD v4 |
| 6 | g.116119954G>C | CA145907920 | COL10A1,NT5DC1 | c.529+2009G>C (n.529+2009G>C) c.*119C>G (n.*119C>G) c.27+2009G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119954G= | CA1657093099 | COL10A1,NT5DC1 | c.529+2009G= (n.529+2009G=) c.*119C= (n.*119C=) c.27+2009G= | |
| 6 | g.116119954G>T | CA2680093513 | COL10A1,NT5DC1 | c.529+2009G>T (n.529+2009G>T) c.*119C>A (n.*119C>A) c.27+2009G>T | gnomAD v4 |
| 6 | g.116119955T>C | CA651051366 | COL10A1,NT5DC1 | c.529+2010T>C (n.529+2010T>C) c.*118A>G (n.*118A>G) c.27+2010T>C | COSMIC |
| 6 | g.116119955T>G | CA2680093514 | COL10A1,NT5DC1 | c.529+2010T>G (n.529+2010T>G) c.*118A>C (n.*118A>C) c.27+2010T>G | gnomAD v4 |
| 6 | g.116119956A>C | CA2680093515 | COL10A1,NT5DC1 | c.529+2011A>C (n.529+2011A>C) c.*117T>G (n.*117T>G) c.27+2011A>C | gnomAD v4 |
| 6 | g.116119957T>C | CA2712868937 | COL10A1,NT5DC1 | c.529+2012T>C (n.529+2012T>C) c.*116A>G (n.*116A>G) c.27+2012T>C | dbSNP |
| 6 | g.116119960C>A | CA2680093516 | COL10A1,NT5DC1 | c.529+2015C>A (n.529+2015C>A) c.*113G>T (n.*113G>T) c.27+2015C>A | gnomAD v4 |
| 6 | g.116119960C= | CA1657093100 | COL10A1,NT5DC1 | c.529+2015C= (n.529+2015C=) c.*113G= (n.*113G=) c.27+2015C= | |
| 6 | g.116119960C>T | CA145907921 | COL10A1,NT5DC1 | c.529+2015C>T (n.529+2015C>T) c.*113G>A (n.*113G>A) c.27+2015C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119961A= | CA1657093101 | COL10A1,NT5DC1 | c.529+2016A= (n.529+2016A=) c.*112T= (n.*112T=) c.27+2016A= | |
| 6 | g.116119961A>G | CA1657093102 | COL10A1,NT5DC1 | c.529+2016A>G (n.529+2016A>G) c.*112T>C (n.*112T>C) c.27+2016A>G | dbSNP |
| 6 | g.116119962G>A | CA2680093517 | COL10A1,NT5DC1 | c.529+2017G>A (n.529+2017G>A) c.*111C>T (n.*111C>T) c.27+2017G>A | gnomAD v4 |
| 6 | g.116119963A>C | CA2680093519 | COL10A1,NT5DC1 | c.529+2018A>C (n.529+2018A>C) c.*110T>G (n.*110T>G) c.27+2018A>C | gnomAD v4 |
| 6 | g.116119965_116119966dup | CA2680093518 | COL10A1,NT5DC1 | c.529+2020_529+2021dup (n.529+2020_529+2021dup) c.*109_*110dup (n.*109_*110dup) c.27+2020_27+2021dup | gnomAD v4 |
| 6 | g.116119965A>T | CA2680093520 | COL10A1,NT5DC1 | c.529+2020A>T (n.529+2020A>T) c.*108T>A (n.*108T>A) c.27+2020A>T | gnomAD v4 |
| 6 | g.116119966A= | CA1657093103 | COL10A1,NT5DC1 | c.529+2021A= (n.529+2021A=) c.*107T= (n.*107T=) c.27+2021A= | |
| 6 | g.116119966A>C | CA817679436 | COL10A1,NT5DC1 | c.529+2021A>C (n.529+2021A>C) c.*107T>G (n.*107T>G) c.27+2021A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119972del | CA2680093521 | COL10A1,NT5DC1 | c.529+2027del (n.529+2027del) c.*105del (n.*105del) c.27+2027del | gnomAD v4 |
| 6 | g.116119972A>G | CA2680093522 | COL10A1,NT5DC1 | c.529+2027A>G (n.529+2027A>G) c.*101T>C (n.*101T>C) c.27+2027A>G | gnomAD v4 |
| 6 | g.116119972A>T | CA2680093523 | COL10A1,NT5DC1 | c.529+2027A>T (n.529+2027A>T) c.*101T>A (n.*101T>A) c.27+2027A>T | gnomAD v4 |
| 6 | g.116119973T>C | CA145907923 | COL10A1,NT5DC1 | c.529+2028T>C (n.529+2028T>C) c.*100A>G (n.*100A>G) c.27+2028T>C | dbSNP gnomAD v4 |
| 6 | g.116119973T= | CA1657093104 | COL10A1,NT5DC1 | c.529+2028T= (n.529+2028T=) c.*100A= (n.*100A=) c.27+2028T= | |
| 6 | g.116119974T>C | CA2578720556 | COL10A1,NT5DC1 | c.529+2029T>C (n.529+2029T>C) c.*99A>G (n.*99A>G) c.27+2029T>C | |
| 6 | g.116119975A= | CA1657093105 | COL10A1,NT5DC1 | c.529+2030A= (n.529+2030A=) c.*98T= (n.*98T=) c.27+2030A= | |
| 6 | g.116119975A>C | CA2680093524 | COL10A1,NT5DC1 | c.529+2030A>C (n.529+2030A>C) c.*98T>G (n.*98T>G) c.27+2030A>C | gnomAD v4 |
| 6 | g.116119975A>G | CA817679439 | COL10A1,NT5DC1 | c.529+2030A>G (n.529+2030A>G) c.*98T>C (n.*98T>C) c.27+2030A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119975A>T | CA2680093525 | COL10A1,NT5DC1 | c.529+2030A>T (n.529+2030A>T) c.*98T>A (n.*98T>A) c.27+2030A>T | gnomAD v4 |
| 6 | g.116119976C>A | CA2680093526 | COL10A1,NT5DC1 | c.529+2031C>A (n.529+2031C>A) c.*97G>T (n.*97G>T) c.27+2031C>A | gnomAD v4 |
| 6 | g.116119976C>G | CA2680093527 | COL10A1,NT5DC1 | c.529+2031C>G (n.529+2031C>G) c.*97G>C (n.*97G>C) c.27+2031C>G | gnomAD v4 |
| 6 | g.116119976C>T | CA2680093528 | COL10A1,NT5DC1 | c.529+2031C>T (n.529+2031C>T) c.*97G>A (n.*97G>A) c.27+2031C>T | gnomAD v4 |
| 6 | g.116119977A= | CA1657093106 | COL10A1,NT5DC1 | c.529+2032A= (n.529+2032A=) c.*96T= (n.*96T=) c.27+2032A= | |
| 6 | g.116119977A>C | CA817679441 | COL10A1,NT5DC1 | c.529+2032A>C (n.529+2032A>C) c.*96T>G (n.*96T>G) c.27+2032A>C | dbSNP |
| 6 | g.116119977A>G | CA145907942 | COL10A1,NT5DC1 | c.529+2032A>G (n.529+2032A>G) c.*96T>C (n.*96T>C) c.27+2032A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119978T>A | CA1657093108 | COL10A1,NT5DC1 | c.529+2033T>A (n.529+2033T>A) c.*95A>T (n.*95A>T) c.27+2033T>A | dbSNP |
| 6 | g.116119978T>C | CA569681633 | COL10A1,NT5DC1 | c.529+2033T>C (n.529+2033T>C) c.*95A>G (n.*95A>G) c.27+2033T>C | gnomAD v2 gnomAD v4 |
| 6 | g.116119978T= | CA1657093107 | COL10A1,NT5DC1 | c.529+2033T= (n.529+2033T=) c.*95A= (n.*95A=) c.27+2033T= | |
| 6 | g.116119980C>A | CA1657093110 | COL10A1,NT5DC1 | c.529+2035C>A (n.529+2035C>A) c.*93G>T (n.*93G>T) c.27+2035C>A | dbSNP gnomAD v4 |
| 6 | g.116119980C= | CA1657093109 | COL10A1,NT5DC1 | c.529+2035C= (n.529+2035C=) c.*93G= (n.*93G=) c.27+2035C= | |
| 6 | g.116119980C>G | CA1093500467 | COL10A1,NT5DC1 | c.529+2035C>G (n.529+2035C>G) c.*93G>C (n.*93G>C) c.27+2035C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119981T>G | CA2680093529 | COL10A1,NT5DC1 | c.529+2036T>G (n.529+2036T>G) c.*92A>C (n.*92A>C) c.27+2036T>G | gnomAD v4 |
| 6 | g.116119982T>C | CA817679450 | COL10A1,NT5DC1 | c.529+2037T>C (n.529+2037T>C) c.*91A>G (n.*91A>G) c.27+2037T>C | dbSNP |
| 6 | g.116119982T= | CA1657093111 | COL10A1,NT5DC1 | c.529+2037T= (n.529+2037T=) c.*91A= (n.*91A=) c.27+2037T= | |
| 6 | g.116119983T>C | CA2680093530 | COL10A1,NT5DC1 | c.529+2038T>C (n.529+2038T>C) c.*90A>G (n.*90A>G) c.27+2038T>C | gnomAD v4 |
| 6 | g.116119984T>G | CA2772728945 | COL10A1,NT5DC1 | c.529+2039T>G (n.529+2039T>G) c.*89A>C (n.*89A>C) c.27+2039T>G | |
| 6 | g.116119985C>A | CA2680093531 | COL10A1,NT5DC1 | c.529+2040C>A (n.529+2040C>A) c.*88G>T (n.*88G>T) c.27+2040C>A | gnomAD v4 |
| 6 | g.116119985C= | CA1657093112 | COL10A1,NT5DC1 | c.529+2040C= (n.529+2040C=) c.*88G= (n.*88G=) c.27+2040C= | |
| 6 | g.116119985C>T | CA1657093113 | COL10A1,NT5DC1 | c.529+2040C>T (n.529+2040C>T) c.*88G>A (n.*88G>A) c.27+2040C>T | dbSNP gnomAD v4 |
| 6 | g.116119986A>G | CA2772728946 | COL10A1,NT5DC1 | c.529+2041A>G (n.529+2041A>G) c.*87T>C (n.*87T>C) c.27+2041A>G | |
| 6 | g.116119986A>T | CA2680093532 | COL10A1,NT5DC1 | c.529+2041A>T (n.529+2041A>T) c.*87T>A (n.*87T>A) c.27+2041A>T | gnomAD v4 |
| 6 | g.116119987G>T | CA2578720557 | COL10A1,NT5DC1 | c.529+2042G>T (n.529+2042G>T) c.*86C>A (n.*86C>A) c.27+2042G>T | gnomAD v4 |
| 6 | g.116119989C>A | CA2772728947 | COL10A1,NT5DC1 | c.529+2044C>A (n.529+2044C>A) c.*84G>T (n.*84G>T) c.27+2044C>A | |
| 6 | g.116119989C= | CA1657093114 | COL10A1,NT5DC1 | c.529+2044C= (n.529+2044C=) c.*84G= (n.*84G=) c.27+2044C= | |
| 6 | g.116119989C>G | CA1657093115 | COL10A1,NT5DC1 | c.529+2044C>G (n.529+2044C>G) c.*84G>C (n.*84G>C) c.27+2044C>G | dbSNP gnomAD v4 |
| 6 | g.116119989C>T | CA2680093533 | COL10A1,NT5DC1 | c.529+2044C>T (n.529+2044C>T) c.*84G>A (n.*84G>A) c.27+2044C>T | gnomAD v4 |
| 6 | g.116119990T>C | CA2578720558 | COL10A1,NT5DC1 | c.529+2045T>C (n.529+2045T>C) c.*83A>G (n.*83A>G) c.27+2045T>C | |
| 6 | g.116119991A= | CA1657093116 | COL10A1,NT5DC1 | c.529+2046A= (n.529+2046A=) c.*82T= (n.*82T=) c.27+2046A= | |
| 6 | g.116119991A>C | CA817679457 | COL10A1,NT5DC1 | c.529+2046A>C (n.529+2046A>C) c.*82T>G (n.*82T>G) c.27+2046A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119991A>G | CA817679454 | COL10A1,NT5DC1 | c.529+2046A>G (n.529+2046A>G) c.*82T>C (n.*82T>C) c.27+2046A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119991A>T | CA2772728948 | COL10A1,NT5DC1 | c.529+2046A>T (n.529+2046A>T) c.*82T>A (n.*82T>A) c.27+2046A>T | |
| 6 | g.116119992C= | CA1657093117 | COL10A1,NT5DC1 | c.529+2047C= (n.529+2047C=) c.*81G= (n.*81G=) c.27+2047C= | |
| 6 | g.116119992C>T | CA145907948 | COL10A1,NT5DC1 | c.529+2047C>T (n.529+2047C>T) c.*81G>A (n.*81G>A) c.27+2047C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119994T>A | CA2578720559 | COL10A1,NT5DC1 | c.529+2049T>A (n.529+2049T>A) c.*79A>T (n.*79A>T) c.27+2049T>A | gnomAD v4 |
| 6 | g.116119994T>C | CA2680093534 | COL10A1,NT5DC1 | c.529+2049T>C (n.529+2049T>C) c.*79A>G (n.*79A>G) c.27+2049T>C | gnomAD v4 |
| 6 | g.116119995C>A | CA2680093536 | COL10A1,NT5DC1 | c.529+2050C>A (n.529+2050C>A) c.*78G>T (n.*78G>T) c.27+2050C>A | gnomAD v4 |
| 6 | g.116119995C>T | CA2680093535 | COL10A1,NT5DC1 | c.529+2050C>T (n.529+2050C>T) c.*78G>A (n.*78G>A) c.27+2050C>T | gnomAD v4 |
| 6 | g.116119996C= | CA1657093118 | COL10A1,NT5DC1 | c.529+2051C= (n.529+2051C=) c.*77G= (n.*77G=) c.27+2051C= | |
| 6 | g.116119996C>T | CA817679467 | COL10A1,NT5DC1 | c.529+2051C>T (n.529+2051C>T) c.*77G>A (n.*77G>A) c.27+2051C>T | dbSNP |
| 6 | g.116119997A= | CA1657093119 | COL10A1,NT5DC1 | c.529+2052A= (n.529+2052A=) c.*76T= (n.*76T=) c.27+2052A= | |
| 6 | g.116119997A>C | CA1657093120 | COL10A1,NT5DC1 | c.529+2052A>C (n.529+2052A>C) c.*76T>G (n.*76T>G) c.27+2052A>C | dbSNP |
| 6 | g.116119997A>G | CA145907949 | COL10A1,NT5DC1 | c.529+2052A>G (n.529+2052A>G) c.*76T>C (n.*76T>C) c.27+2052A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116119998T>C | CA2680093537 | COL10A1,NT5DC1 | c.529+2053T>C (n.529+2053T>C) c.*75A>G (n.*75A>G) c.27+2053T>C | gnomAD v4 |
| 6 | g.116119999A= | CA1657093121 | COL10A1,NT5DC1 | c.529+2054A= (n.529+2054A=) c.*74T= (n.*74T=) c.27+2054A= | |
| 6 | g.116119999A>G | CA817679474 | COL10A1,NT5DC1 | c.529+2054A>G (n.529+2054A>G) c.*74T>C (n.*74T>C) c.27+2054A>G | dbSNP |
| 6 | g.116120001G>A | CA2680093538 | COL10A1,NT5DC1 | c.529+2056G>A (n.529+2056G>A) c.*72C>T (n.*72C>T) c.27+2056G>A | gnomAD v4 |
| 6 | g.116120001G>T | CA2578720560 | COL10A1,NT5DC1 | c.529+2056G>T (n.529+2056G>T) c.*72C>A (n.*72C>A) c.27+2056G>T | gnomAD v4 |
| 6 | g.116120003A= | CA1657093122 | COL10A1,NT5DC1 | c.529+2058A= (n.529+2058A=) c.*70T= (n.*70T=) c.27+2058A= | |
| 6 | g.116120003A>C | CA2680093539 | COL10A1,NT5DC1 | c.529+2058A>C (n.529+2058A>C) c.*70T>G (n.*70T>G) c.27+2058A>C | gnomAD v4 |
| 6 | g.116120003A>G | CA1657093123 | COL10A1,NT5DC1 | c.529+2058A>G (n.529+2058A>G) c.*70T>C (n.*70T>C) c.27+2058A>G | dbSNP |
| 6 | g.116120004T>G | CA2680093540 | COL10A1,NT5DC1 | c.529+2059T>G (n.529+2059T>G) c.*69A>C (n.*69A>C) c.27+2059T>G | gnomAD v4 |
| 6 | g.116120005T>G | CA2680093541 | COL10A1,NT5DC1 | c.529+2060T>G (n.529+2060T>G) c.*68A>C (n.*68A>C) c.27+2060T>G | gnomAD v4 |
| 6 | g.116120006T>C | CA2680093542 | COL10A1,NT5DC1 | c.529+2061T>C (n.529+2061T>C) c.*67A>G (n.*67A>G) c.27+2061T>C | gnomAD v4 |
| 6 | g.116120007T>G | CA2712868940 | COL10A1,NT5DC1 | c.529+2062T>G (n.529+2062T>G) c.*66A>C (n.*66A>C) c.27+2062T>G | dbSNP |
| 6 | g.116120008G>A | CA1657093125 | COL10A1,NT5DC1 | c.529+2063G>A (n.529+2063G>A) c.*65C>T (n.*65C>T) c.27+2063G>A | dbSNP |
| 6 | g.116120008G>C | CA145907950 | COL10A1,NT5DC1 | c.529+2063G>C (n.529+2063G>C) c.*65C>G (n.*65C>G) c.27+2063G>C | dbSNP |
| 6 | g.116120008G= | CA1657093124 | COL10A1,NT5DC1 | c.529+2063G= (n.529+2063G=) c.*65C= (n.*65C=) c.27+2063G= | |
| 6 | g.116120008G>T | CA2680093543 | COL10A1,NT5DC1 | c.529+2063G>T (n.529+2063G>T) c.*65C>A (n.*65C>A) c.27+2063G>T | gnomAD v4 |
| 6 | g.116120010A>G | CA2680093544 | COL10A1,NT5DC1 | c.529+2065A>G (n.529+2065A>G) c.*63T>C (n.*63T>C) c.27+2065A>G | gnomAD v4 |
| 6 | g.116120011G>C | CA2578720561 | COL10A1,NT5DC1 | c.529+2066G>C (n.529+2066G>C) c.*62C>G (n.*62C>G) c.27+2066G>C | gnomAD v4 |
| 6 | g.116120011G= | CA1657093126 | COL10A1,NT5DC1 | c.529+2066G= (n.529+2066G=) c.*62C= (n.*62C=) c.27+2066G= | |
| 6 | g.116120011G>T | CA569681634 | COL10A1,NT5DC1 | c.529+2066G>T (n.529+2066G>T) c.*62C>A (n.*62C>A) c.27+2066G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120012G>C | CA817679479 | COL10A1,NT5DC1 | c.529+2067G>C (n.529+2067G>C) c.*61C>G (n.*61C>G) c.27+2067G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120012G= | CA1657093127 | COL10A1,NT5DC1 | c.529+2067G= (n.529+2067G=) c.*61C= (n.*61C=) c.27+2067G= | |
| 6 | g.116120012G>T | CA2680093545 | COL10A1,NT5DC1 | c.529+2067G>T (n.529+2067G>T) c.*61C>A (n.*61C>A) c.27+2067G>T | gnomAD v4 |
| 6 | g.116120013G>A | CA2578720562 | COL10A1,NT5DC1 | c.529+2068G>A (n.529+2068G>A) c.*60C>T (n.*60C>T) c.27+2068G>A | gnomAD v4 |
| 6 | g.116120013G>C | CA145907959 | COL10A1,NT5DC1 | c.529+2068G>C (n.529+2068G>C) c.*60C>G (n.*60C>G) c.27+2068G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120013G= | CA1657093128 | COL10A1,NT5DC1 | c.529+2068G= (n.529+2068G=) c.*60C= (n.*60C=) c.27+2068G= | |
| 6 | g.116120013G>T | CA2680093546 | COL10A1,NT5DC1 | c.529+2068G>T (n.529+2068G>T) c.*60C>A (n.*60C>A) c.27+2068G>T | gnomAD v4 |
| 6 | g.116120014T>G | CA145907964 | COL10A1,NT5DC1 | c.529+2069T>G (n.529+2069T>G) c.*59A>C (n.*59A>C) c.27+2069T>G | dbSNP gnomAD v4 |
| 6 | g.116120014T= | CA1657093129 | COL10A1,NT5DC1 | c.529+2069T= (n.529+2069T=) c.*59A= (n.*59A=) c.27+2069T= | |
| 6 | g.116120015G>A | CA1657093131 | COL10A1,NT5DC1 | c.529+2070G>A (n.529+2070G>A) c.*58C>T (n.*58C>T) c.27+2070G>A | dbSNP gnomAD v4 |
| 6 | g.116120015G= | CA1657093130 | COL10A1,NT5DC1 | c.529+2070G= (n.529+2070G=) c.*58C= (n.*58C=) c.27+2070G= | |
| 6 | g.116120015G>T | CA2680093547 | COL10A1,NT5DC1 | c.529+2070G>T (n.529+2070G>T) c.*58C>A (n.*58C>A) c.27+2070G>T | gnomAD v4 |
| 6 | g.116120018del | CA2578720563 | COL10A1,NT5DC1 | c.529+2073del (n.529+2073del) c.*58del (n.*58del) c.27+2073del | |
| 6 | g.116120016G>A | CA2680093548 | COL10A1,NT5DC1 | c.529+2071G>A (n.529+2071G>A) c.*57C>T (n.*57C>T) c.27+2071G>A | gnomAD v4 |
| 6 | g.116120016G>C | CA1657093133 | COL10A1,NT5DC1 | c.529+2071G>C (n.529+2071G>C) c.*57C>G (n.*57C>G) c.27+2071G>C | dbSNP |
| 6 | g.116120016G= | CA1657093132 | COL10A1,NT5DC1 | c.529+2071G= (n.529+2071G=) c.*57C= (n.*57C=) c.27+2071G= | |
| 6 | g.116120016G>T | CA2578720564 | COL10A1,NT5DC1 | c.529+2071G>T (n.529+2071G>T) c.*57C>A (n.*57C>A) c.27+2071G>T | gnomAD v4 |
| 6 | g.116120017G= | CA1657093134 | COL10A1,NT5DC1 | c.529+2072G= (n.529+2072G=) c.*56C= (n.*56C=) c.27+2072G= | |
| 6 | g.116120017G>T | CA1657093135 | COL10A1,NT5DC1 | c.529+2072G>T (n.529+2072G>T) c.*56C>A (n.*56C>A) c.27+2072G>T | dbSNP gnomAD v4 |
| 6 | g.116120018G>A | CA2516849095 | COL10A1,NT5DC1 | c.529+2073G>A (n.529+2073G>A) c.*55C>T (n.*55C>T) c.27+2073G>A | gnomAD v4 |
| 6 | g.116120018G= | CA1657093137 | COL10A1,NT5DC1 | c.529+2073G= (n.529+2073G=) c.*55C= (n.*55C=) c.27+2073G= | |
| 6 | g.116120018G>T | CA1657093136 | COL10A1,NT5DC1 | c.529+2073G>T (n.529+2073G>T) c.*55C>A (n.*55C>A) c.27+2073G>T | dbSNP gnomAD v4 |
| 6 | g.116120019T>C | CA817679482 | COL10A1,NT5DC1 | c.529+2074T>C (n.529+2074T>C) c.*54A>G (n.*54A>G) c.27+2074T>C | dbSNP |
| 6 | g.116120019T= | CA1657093138 | COL10A1,NT5DC1 | c.529+2074T= (n.529+2074T=) c.*54A= (n.*54A=) c.27+2074T= | |
| 6 | g.116120020A= | CA1657093139 | COL10A1,NT5DC1 | c.529+2075A= (n.529+2075A=) c.*53T= (n.*53T=) c.27+2075A= | |
| 6 | g.116120020A>G | CA1657093140 | COL10A1,NT5DC1 | c.529+2075A>G (n.529+2075A>G) c.*53T>C (n.*53T>C) c.27+2075A>G | dbSNP gnomAD v4 |
| 6 | g.116120021G>A | CA817679483 | COL10A1,NT5DC1 | c.529+2076G>A (n.529+2076G>A) c.*52C>T (n.*52C>T) c.27+2076G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120021G>C | CA1093500473 | COL10A1,NT5DC1 | c.529+2076G>C (n.529+2076G>C) c.*52C>G (n.*52C>G) c.27+2076G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120021G= | CA1657093141 | COL10A1,NT5DC1 | c.529+2076G= (n.529+2076G=) c.*52C= (n.*52C=) c.27+2076G= | |
| 6 | g.116120021G>T | CA2680093549 | COL10A1,NT5DC1 | c.529+2076G>T (n.529+2076G>T) c.*52C>A (n.*52C>A) c.27+2076G>T | gnomAD v4 |
| 6 | g.116120023G>T | CA2680093550 | COL10A1,NT5DC1 | c.529+2078G>T (n.529+2078G>T) c.*50C>A (n.*50C>A) c.27+2078G>T | gnomAD v4 |
| 6 | g.116120024T>C | CA2712869048 | COL10A1,NT5DC1 | c.529+2079T>C (n.529+2079T>C) c.*49A>G (n.*49A>G) c.27+2079T>C | dbSNP |
| 6 | g.116120026A>G | CA2520267869 | COL10A1,NT5DC1 | c.529+2081A>G (n.529+2081A>G) c.*47T>C (n.*47T>C) c.27+2081A>G | |
| 6 | g.116120026A>T | CA2578720565 | COL10A1,NT5DC1 | c.529+2081A>T (n.529+2081A>T) c.*47T>A (n.*47T>A) c.27+2081A>T | |
| 6 | g.116120029_116120030del | CA2680093551 | COL10A1,NT5DC1 | c.529+2084_529+2085del (n.529+2084_529+2085del) c.*46_*47del (n.*46_*47del) c.27+2084_27+2085del | gnomAD v4 |
| 6 | g.116120027G>T | CA2680093552 | COL10A1,NT5DC1 | c.529+2082G>T (n.529+2082G>T) c.*46C>A (n.*46C>A) c.27+2082G>T | gnomAD v4 |
| 6 | g.116120028A>G | CA2553249287 | COL10A1,NT5DC1 | c.529+2083A>G (n.529+2083A>G) c.*45T>C (n.*45T>C) c.27+2083A>G | |
| 6 | g.116120029G>A | CA3968057 | COL10A1,NT5DC1 | c.529+2084G>A (n.529+2084G>A) c.*44C>T (n.*44C>T) c.27+2084G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.116120029G= | CA1657093142 | COL10A1,NT5DC1 | c.529+2084G= (n.529+2084G=) c.*44C= (n.*44C=) c.27+2084G= | |
| 6 | g.116120029G>T | CA2680093553 | COL10A1,NT5DC1 | c.529+2084G>T (n.529+2084G>T) c.*44C>A (n.*44C>A) c.27+2084G>T | gnomAD v4 |
| 6 | g.116120031del | CA2578720566 | COL10A1,NT5DC1 | c.529+2086del (n.529+2086del) c.*43del (n.*43del) c.27+2086del | |
| 6 | g.116120031A>C | CA2523679570 | COL10A1,NT5DC1 | c.529+2086A>C (n.529+2086A>C) c.*42T>G (n.*42T>G) c.27+2086A>C | |
| 6 | g.116120031A>G | CA2680093554 | COL10A1,NT5DC1 | c.529+2086A>G (n.529+2086A>G) c.*42T>C (n.*42T>C) c.27+2086A>G | gnomAD v4 |