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 |
|---|---|---|---|---|---|
| 2 | g.233656492del | CA2519852739 | UGT1A10,UGT1A8 | c.855+19115del (n.855+19115del) c.855+37930del (n.855+37930del) | |
| 2 | g.233656491T>A | CA2754690791 | UGT1A10,UGT1A8 | c.855+19114T>A (n.855+19114T>A) c.855+37929T>A (n.855+37929T>A) | |
| 2 | g.233656491T>C | CA540055370 | UGT1A10,UGT1A8 | c.855+19114T>C (n.855+19114T>C) c.855+37929T>C (n.855+37929T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656491T= | CA1335843949 | UGT1A10,UGT1A8 | c.855+19114T= (n.855+19114T=) c.855+37929T= (n.855+37929T=) | |
| 2 | g.233656492T>C | CA67594856 | UGT1A10,UGT1A8 | c.855+19115T>C (n.855+19115T>C) c.855+37930T>C (n.855+37930T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656492T= | CA1335843950 | UGT1A10,UGT1A8 | c.855+19115T= (n.855+19115T=) c.855+37930T= (n.855+37930T=) | |
| 2 | g.233656497G>C | CA2530971154 | UGT1A10,UGT1A8 | c.855+19120G>C (n.855+19120G>C) c.855+37935G>C (n.855+37935G>C) | |
| 2 | g.233656498C>T | CA2701877479 | UGT1A10,UGT1A8 | c.855+19121C>T (n.855+19121C>T) c.855+37936C>T (n.855+37936C>T) | dbSNP |
| 2 | g.233656501_233656502delinsGA | CA1335843951 | UGT1A10,UGT1A8 | c.855+19124_855+19125delinsGA (n.855+19124_855+19125delinsGA) c.855+37939_855+37940delinsGA (n.855+37939_855+37940delinsGA) | |
| 2 | g.233656502del | CA1335843953 | UGT1A10,UGT1A8 | c.855+19125del (n.855+19125del) c.855+37940del (n.855+37940del) | dbSNP |
| 2 | g.233656502A= | CA1335843952 | UGT1A10,UGT1A8 | c.855+19125A= (n.855+19125A=) c.855+37940A= (n.855+37940A=) | |
| 2 | g.233656502A>G | CA2754690792 | UGT1A10,UGT1A8 | c.855+19125A>G (n.855+19125A>G) c.855+37940A>G (n.855+37940A>G) | |
| 2 | g.233656503G>C | CA766280381 | UGT1A10,UGT1A8 | c.855+19126G>C (n.855+19126G>C) c.855+37941G>C (n.855+37941G>C) | dbSNP |
| 2 | g.233656503G= | CA1335843955 | UGT1A10,UGT1A8 | c.855+19126G= (n.855+19126G=) c.855+37941G= (n.855+37941G=) | |
| 2 | g.233656503dup | CA1335843954 | UGT1A10,UGT1A8 | c.855+19126dup (n.855+19126dup) c.855+37941dup (n.855+37941dup) | dbSNP |
| 2 | g.233656503_233656504delinsGA | CA1335843956 | UGT1A10,UGT1A8 | c.855+19126_855+19127delinsGA (n.855+19126_855+19127delinsGA) c.855+37941_855+37942delinsGA (n.855+37941_855+37942delinsGA) | |
| 2 | g.233656508del | CA1335843957 | UGT1A10,UGT1A8 | c.855+19131del (n.855+19131del) c.855+37946del (n.855+37946del) | dbSNP |
| 2 | g.233656505A= | CA1335843958 | UGT1A10,UGT1A8 | c.855+19128A= (n.855+19128A=) c.855+37943A= (n.855+37943A=) | |
| 2 | g.233656505A>G | CA67594859 | UGT1A10,UGT1A8 | c.855+19128A>G (n.855+19128A>G) c.855+37943A>G (n.855+37943A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656514A>G | CA2701877480 | UGT1A10,UGT1A8 | c.855+19137A>G (n.855+19137A>G) c.855+37952A>G (n.855+37952A>G) | dbSNP |
| 2 | g.233656517C>T | CA2513154448 | UGT1A10,UGT1A8 | c.855+19140C>T (n.855+19140C>T) c.855+37955C>T (n.855+37955C>T) | |
| 2 | g.233656520T>G | CA1335843960 | UGT1A10,UGT1A8 | c.855+19143T>G (n.855+19143T>G) c.855+37958T>G (n.855+37958T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656520T= | CA1335843959 | UGT1A10,UGT1A8 | c.855+19143T= (n.855+19143T=) c.855+37958T= (n.855+37958T=) | |
| 2 | g.233656522G>A | CA1335843962 | UGT1A10,UGT1A8 | c.855+19145G>A (n.855+19145G>A) c.855+37960G>A (n.855+37960G>A) | dbSNP |
| 2 | g.233656522G= | CA1335843961 | UGT1A10,UGT1A8 | c.855+19145G= (n.855+19145G=) c.855+37960G= (n.855+37960G=) | |
| 2 | g.233656524A= | CA1335843963 | UGT1A10,UGT1A8 | c.855+19147A= (n.855+19147A=) c.855+37962A= (n.855+37962A=) | |
| 2 | g.233656524A>G | CA1335843965 | UGT1A10,UGT1A8 | c.855+19147A>G (n.855+19147A>G) c.855+37962A>G (n.855+37962A>G) | dbSNP |
| 2 | g.233656524A>T | CA1335843964 | UGT1A10,UGT1A8 | c.855+19147A>T (n.855+19147A>T) c.855+37962A>T (n.855+37962A>T) | dbSNP |
| 2 | g.233656525G= | CA1335843966 | UGT1A10,UGT1A8 | c.855+19148G= (n.855+19148G=) c.855+37963G= (n.855+37963G=) | |
| 2 | g.233656525G>T | CA67594865 | UGT1A10,UGT1A8 | c.855+19148G>T (n.855+19148G>T) c.855+37963G>T (n.855+37963G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656526T>G | CA1335843968 | UGT1A10,UGT1A8 | c.855+19149T>G (n.855+19149T>G) c.855+37964T>G (n.855+37964T>G) | dbSNP |
| 2 | g.233656526T= | CA1335843967 | UGT1A10,UGT1A8 | c.855+19149T= (n.855+19149T=) c.855+37964T= (n.855+37964T=) | |
| 2 | g.233656527T>C | CA67594867 | UGT1A10,UGT1A8 | c.855+19150T>C (n.855+19150T>C) c.855+37965T>C (n.855+37965T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656527T>G | CA67594866 | UGT1A10,UGT1A8 | c.855+19150T>G (n.855+19150T>G) c.855+37965T>G (n.855+37965T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656527T= | CA1335843969 | UGT1A10,UGT1A8 | c.855+19150T= (n.855+19150T=) c.855+37965T= (n.855+37965T=) | |
| 2 | g.233656528G>A | CA67594869 | UGT1A10,UGT1A8 | c.855+19151G>A (n.855+19151G>A) c.855+37966G>A (n.855+37966G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656528G= | CA1335843970 | UGT1A10,UGT1A8 | c.855+19151G= (n.855+19151G=) c.855+37966G= (n.855+37966G=) | |
| 2 | g.233656534T>C | CA2701877481 | UGT1A10,UGT1A8 | c.855+19157T>C (n.855+19157T>C) c.855+37972T>C (n.855+37972T>C) | dbSNP |
| 2 | g.233656535A= | CA1335843972 | UGT1A10,UGT1A8 | c.855+19158A= (n.855+19158A=) c.855+37973A= (n.855+37973A=) | |
| 2 | g.233656535A>T | CA1335843971 | UGT1A10,UGT1A8 | c.855+19158A>T (n.855+19158A>T) c.855+37973A>T (n.855+37973A>T) | dbSNP |
| 2 | g.233656536dup | CA916801614 | UGT1A10,UGT1A8 | c.855+19159dup (n.855+19159dup) c.855+37974dup (n.855+37974dup) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656537T>C | CA2754690793 | UGT1A10,UGT1A8 | c.855+19160T>C (n.855+19160T>C) c.855+37975T>C (n.855+37975T>C) | |
| 2 | g.233656539T>A | CA67594872 | UGT1A10,UGT1A8 | c.855+19162T>A (n.855+19162T>A) c.855+37977T>A (n.855+37977T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656539T>G | CA67594875 | UGT1A10,UGT1A8 | c.855+19162T>G (n.855+19162T>G) c.855+37977T>G (n.855+37977T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656539T= | CA1335843973 | UGT1A10,UGT1A8 | c.855+19162T= (n.855+19162T=) c.855+37977T= (n.855+37977T=) | |
| 2 | g.233656540A= | CA1335843974 | UGT1A10,UGT1A8 | c.855+19163A= (n.855+19163A=) c.855+37978A= (n.855+37978A=) | |
| 2 | g.233656540A>G | CA766280390 | UGT1A10,UGT1A8 | c.855+19163A>G (n.855+19163A>G) c.855+37978A>G (n.855+37978A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656543C= | CA1335843975 | UGT1A10,UGT1A8 | c.855+19166C= (n.855+19166C=) c.855+37981C= (n.855+37981C=) | |
| 2 | g.233656543C>G | CA766280393 | UGT1A10,UGT1A8 | c.855+19166C>G (n.855+19166C>G) c.855+37981C>G (n.855+37981C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656545T>C | CA1335843977 | UGT1A10,UGT1A8 | c.855+19168T>C (n.855+19168T>C) c.855+37983T>C (n.855+37983T>C) | dbSNP |
| 2 | g.233656545T= | CA1335843976 | UGT1A10,UGT1A8 | c.855+19168T= (n.855+19168T=) c.855+37983T= (n.855+37983T=) | |
| 2 | g.233656546T>G | CA1335843979 | UGT1A10,UGT1A8 | c.855+19169T>G (n.855+19169T>G) c.855+37984T>G (n.855+37984T>G) | dbSNP |
| 2 | g.233656546T= | CA1335843978 | UGT1A10,UGT1A8 | c.855+19169T= (n.855+19169T=) c.855+37984T= (n.855+37984T=) | |
| 2 | g.233656548A= | CA1335843980 | UGT1A10,UGT1A8 | c.855+19171A= (n.855+19171A=) c.855+37986A= (n.855+37986A=) | |
| 2 | g.233656548A>C | CA67594880 | UGT1A10,UGT1A8 | c.855+19171A>C (n.855+19171A>C) c.855+37986A>C (n.855+37986A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656549G>C | CA1335843982 | UGT1A10,UGT1A8 | c.855+19172G>C (n.855+19172G>C) c.855+37987G>C (n.855+37987G>C) | dbSNP |
| 2 | g.233656549G= | CA1335843981 | UGT1A10,UGT1A8 | c.855+19172G= (n.855+19172G=) c.855+37987G= (n.855+37987G=) | |
| 2 | g.233656550T>A | CA67594883 | UGT1A10,UGT1A8 | c.855+19173T>A (n.855+19173T>A) c.855+37988T>A (n.855+37988T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656550T>C | CA1335843984 | UGT1A10,UGT1A8 | c.855+19173T>C (n.855+19173T>C) c.855+37988T>C (n.855+37988T>C) | dbSNP |
| 2 | g.233656550T= | CA1335843983 | UGT1A10,UGT1A8 | c.855+19173T= (n.855+19173T=) c.855+37988T= (n.855+37988T=) | |
| 2 | g.233656551G>A | CA1335843986 | UGT1A10,UGT1A8 | c.855+19174G>A (n.855+19174G>A) c.855+37989G>A (n.855+37989G>A) | dbSNP |
| 2 | g.233656551G= | CA1335843985 | UGT1A10,UGT1A8 | c.855+19174G= (n.855+19174G=) c.855+37989G= (n.855+37989G=) | |
| 2 | g.233656553A>G | CA2754690794 | UGT1A10,UGT1A8 | c.855+19176A>G (n.855+19176A>G) c.855+37991A>G (n.855+37991A>G) | |
| 2 | g.233656554G= | CA1335843987 | UGT1A10,UGT1A8 | c.855+19177G= (n.855+19177G=) c.855+37992G= (n.855+37992G=) | |
| 2 | g.233656554G>T | CA67594887 | UGT1A10,UGT1A8 | c.855+19177G>T (n.855+19177G>T) c.855+37992G>T (n.855+37992G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656555G>A | CA1335843989 | UGT1A10,UGT1A8 | c.855+19178G>A (n.855+19178G>A) c.855+37993G>A (n.855+37993G>A) | dbSNP |
| 2 | g.233656555G= | CA1335843988 | UGT1A10,UGT1A8 | c.855+19178G= (n.855+19178G=) c.855+37993G= (n.855+37993G=) | |
| 2 | g.233656555G>T | CA67594907 | UGT1A10,UGT1A8 | c.855+19178G>T (n.855+19178G>T) c.855+37993G>T (n.855+37993G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656556C= | CA1335843990 | UGT1A10,UGT1A8 | c.855+19179C= (n.855+19179C=) c.855+37994C= (n.855+37994C=) | |
| 2 | g.233656556C>T | CA67594919 | UGT1A10,UGT1A8 | c.855+19179C>T (n.855+19179C>T) c.855+37994C>T (n.855+37994C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656557G>A | CA1043540104 | UGT1A10,UGT1A8 | c.855+19180G>A (n.855+19180G>A) c.855+37995G>A (n.855+37995G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656557G= | CA1335843991 | UGT1A10,UGT1A8 | c.855+19180G= (n.855+19180G=) c.855+37995G= (n.855+37995G=) | |
| 2 | g.233656560C= | CA1335843992 | UGT1A10,UGT1A8 | c.855+19183C= (n.855+19183C=) c.855+37998C= (n.855+37998C=) | |
| 2 | g.233656560C>T | CA67594920 | UGT1A10,UGT1A8 | c.855+19183C>T (n.855+19183C>T) c.855+37998C>T (n.855+37998C>T) | dbSNP |
| 2 | g.233656564A= | CA1335843993 | UGT1A10,UGT1A8 | c.855+19187A= (n.855+19187A=) c.855+38002A= (n.855+38002A=) | |
| 2 | g.233656564A>T | CA67594922 | UGT1A10,UGT1A8 | c.855+19187A>T (n.855+19187A>T) c.855+38002A>T (n.855+38002A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656569A= | CA1335843994 | UGT1A10,UGT1A8 | c.855+19192A= (n.855+19192A=) c.855+38007A= (n.855+38007A=) | |
| 2 | g.233656569A>G | CA1335843995 | UGT1A10,UGT1A8 | c.855+19192A>G (n.855+19192A>G) c.855+38007A>G (n.855+38007A>G) | dbSNP |
| 2 | g.233656570C= | CA1335843996 | UGT1A10,UGT1A8 | c.855+19193C= (n.855+19193C=) c.855+38008C= (n.855+38008C=) | |
| 2 | g.233656570C>T | CA1043540106 | UGT1A10,UGT1A8 | c.855+19193C>T (n.855+19193C>T) c.855+38008C>T (n.855+38008C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656571T>A | CA67594926 | UGT1A10,UGT1A8 | c.855+19194T>A (n.855+19194T>A) c.855+38009T>A (n.855+38009T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656571T= | CA1335843997 | UGT1A10,UGT1A8 | c.855+19194T= (n.855+19194T=) c.855+38009T= (n.855+38009T=) | |
| 2 | g.233656572C>T | CA647760680 | UGT1A10,UGT1A8 | c.855+19195C>T (n.855+19195C>T) c.855+38010C>T (n.855+38010C>T) | COSMIC |
| 2 | g.233656576C>A | CA540055377 | UGT1A10,UGT1A8 | c.855+19199C>A (n.855+19199C>A) c.855+38014C>A (n.855+38014C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656576C= | CA1335843998 | UGT1A10,UGT1A8 | c.855+19199C= (n.855+19199C=) c.855+38014C= (n.855+38014C=) | |
| 2 | g.233656577C= | CA1335843999 | UGT1A10,UGT1A8 | c.855+19200C= (n.855+19200C=) c.855+38015C= (n.855+38015C=) | |
| 2 | g.233656577C>G | CA766270227 | UGT1A10,UGT1A8 | c.855+19200C>G (n.855+19200C>G) c.855+38015C>G (n.855+38015C>G) | dbSNP |
| 2 | g.233656577C>T | CA1043540109 | UGT1A10,UGT1A8 | c.855+19200C>T (n.855+19200C>T) c.855+38015C>T (n.855+38015C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656578T>G | CA1335844000 | UGT1A10,UGT1A8 | c.855+19201T>G (n.855+19201T>G) c.855+38016T>G (n.855+38016T>G) | dbSNP |
| 2 | g.233656578T= | CA1335844001 | UGT1A10,UGT1A8 | c.855+19201T= (n.855+19201T=) c.855+38016T= (n.855+38016T=) | |
| 2 | g.233656580G>T | CA2754690795 | UGT1A10,UGT1A8 | c.855+19203G>T (n.855+19203G>T) c.855+38018G>T (n.855+38018G>T) | |
| 2 | g.233656581C>A | CA67594937 | UGT1A10,UGT1A8 | c.855+19204C>A (n.855+19204C>A) c.855+38019C>A (n.855+38019C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656581C= | CA1335844002 | UGT1A10,UGT1A8 | c.855+19204C= (n.855+19204C=) c.855+38019C= (n.855+38019C=) | |
| 2 | g.233656581C>T | CA540055378 | UGT1A10,UGT1A8 | c.855+19204C>T (n.855+19204C>T) c.855+38019C>T (n.855+38019C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656582G>A | CA766270231 | UGT1A10,UGT1A8 | c.855+19205G>A (n.855+19205G>A) c.855+38020G>A (n.855+38020G>A) | dbSNP |
| 2 | g.233656582G= | CA1335844003 | UGT1A10,UGT1A8 | c.855+19205G= (n.855+19205G=) c.855+38020G= (n.855+38020G=) | |
| 2 | g.233656585G>A | CA1043540113 | UGT1A10,UGT1A8 | c.855+19208G>A (n.855+19208G>A) c.855+38023G>A (n.855+38023G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656585G= | CA1335844004 | UGT1A10,UGT1A8 | c.855+19208G= (n.855+19208G=) c.855+38023G= (n.855+38023G=) | |
| 2 | g.233656585G>T | CA1335844005 | UGT1A10,UGT1A8 | c.855+19208G>T (n.855+19208G>T) c.855+38023G>T (n.855+38023G>T) | dbSNP |
| 2 | g.233656588T>G | CA1335844007 | UGT1A10,UGT1A8 | c.855+19211T>G (n.855+19211T>G) c.855+38026T>G (n.855+38026T>G) | dbSNP |
| 2 | g.233656588T= | CA1335844006 | UGT1A10,UGT1A8 | c.855+19211T= (n.855+19211T=) c.855+38026T= (n.855+38026T=) | |
| 2 | g.233656591G>A | CA1335844009 | UGT1A10,UGT1A8 | c.855+19214G>A (n.855+19214G>A) c.855+38029G>A (n.855+38029G>A) | dbSNP |
| 2 | g.233656591G= | CA1335844008 | UGT1A10,UGT1A8 | c.855+19214G= (n.855+19214G=) c.855+38029G= (n.855+38029G=) |