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.233656701G>A | CA766270256 | UGT1A10,UGT1A8 | c.855+19324G>A (n.855+19324G>A) c.855+38139G>A (n.855+38139G>A) | dbSNP |
| 2 | g.233656701G= | CA1335844063 | UGT1A10,UGT1A8 | c.855+19324G= (n.855+19324G=) c.855+38139G= (n.855+38139G=) | |
| 2 | g.233656701G>T | CA1335844064 | UGT1A10,UGT1A8 | c.855+19324G>T (n.855+19324G>T) c.855+38139G>T (n.855+38139G>T) | dbSNP |
| 2 | g.233656702A= | CA1335844065 | UGT1A10,UGT1A8 | c.855+19325A= (n.855+19325A=) c.855+38140A= (n.855+38140A=) | |
| 2 | g.233656702A>T | CA1335844066 | UGT1A10,UGT1A8 | c.855+19325A>T (n.855+19325A>T) c.855+38140A>T (n.855+38140A>T) | dbSNP |
| 2 | g.233656703_233656706delinsGTGT | CA1335844067 | UGT1A10,UGT1A8 | c.855+19326_855+19329delinsGTGT (n.855+19326_855+19329delinsGTGT) c.855+38141_855+38144delinsGTGT (n.855+38141_855+38144delinsGTGT) | |
| 2 | g.233656704T>C | CA67594995 | UGT1A10,UGT1A8 | c.855+19327T>C (n.855+19327T>C) c.855+38142T>C (n.855+38142T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656704T= | CA1335844068 | UGT1A10,UGT1A8 | c.855+19327T= (n.855+19327T=) c.855+38142T= (n.855+38142T=) | |
| 2 | g.233656704_233656706del | CA766270260 | UGT1A10,UGT1A8 | c.855+19327_855+19329del (n.855+19327_855+19329del) c.855+38142_855+38144del (n.855+38142_855+38144del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656709C= | CA1335844069 | UGT1A10,UGT1A8 | c.855+19332C= (n.855+19332C=) c.855+38147C= (n.855+38147C=) | |
| 2 | g.233656709C>T | CA540055388 | UGT1A10,UGT1A8 | c.855+19332C>T (n.855+19332C>T) c.855+38147C>T (n.855+38147C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656710G>A | CA540055390 | UGT1A10,UGT1A8 | c.855+19333G>A (n.855+19333G>A) c.855+38148G>A (n.855+38148G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656710G= | CA1335844070 | UGT1A10,UGT1A8 | c.855+19333G= (n.855+19333G=) c.855+38148G= (n.855+38148G=) | |
| 2 | g.233656712G= | CA1335844071 | UGT1A10,UGT1A8 | c.855+19335G= (n.855+19335G=) c.855+38150G= (n.855+38150G=) | |
| 2 | g.233656712G>T | CA1335844072 | UGT1A10,UGT1A8 | c.855+19335G>T (n.855+19335G>T) c.855+38150G>T (n.855+38150G>T) | dbSNP |
| 2 | g.233656713G= | CA1335844073 | UGT1A10,UGT1A8 | c.855+19336G= (n.855+19336G=) c.855+38151G= (n.855+38151G=) | |
| 2 | g.233656713G>T | CA766270271 | UGT1A10,UGT1A8 | c.855+19336G>T (n.855+19336G>T) c.855+38151G>T (n.855+38151G>T) | dbSNP |
| 2 | g.233656714C= | CA1335844074 | UGT1A10,UGT1A8 | c.855+19337C= (n.855+19337C=) c.855+38152C= (n.855+38152C=) | |
| 2 | g.233656714C>T | CA67594999 | UGT1A10,UGT1A8 | c.855+19337C>T (n.855+19337C>T) c.855+38152C>T (n.855+38152C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656715G>A | CA67595009 | UGT1A10,UGT1A8 | c.855+19338G>A (n.855+19338G>A) c.855+38153G>A (n.855+38153G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656715G= | CA1335844075 | UGT1A10,UGT1A8 | c.855+19338G= (n.855+19338G=) c.855+38153G= (n.855+38153G=) | |
| 2 | g.233656715G>T | CA67595016 | UGT1A10,UGT1A8 | c.855+19338G>T (n.855+19338G>T) c.855+38153G>T (n.855+38153G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656717G= | CA1335844076 | UGT1A10,UGT1A8 | c.855+19340G= (n.855+19340G=) c.855+38155G= (n.855+38155G=) | |
| 2 | g.233656717G>T | CA540055395 | UGT1A10,UGT1A8 | c.855+19340G>T (n.855+19340G>T) c.855+38155G>T (n.855+38155G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656718T>C | CA766270278 | UGT1A10,UGT1A8 | c.855+19341T>C (n.855+19341T>C) c.855+38156T>C (n.855+38156T>C) | dbSNP |
| 2 | g.233656718T= | CA1335844077 | UGT1A10,UGT1A8 | c.855+19341T= (n.855+19341T=) c.855+38156T= (n.855+38156T=) | |
| 2 | g.233656719C= | CA1335844078 | UGT1A10,UGT1A8 | c.855+19342C= (n.855+19342C=) c.855+38157C= (n.855+38157C=) | |
| 2 | g.233656719C>G | CA1335844079 | UGT1A10,UGT1A8 | c.855+19342C>G (n.855+19342C>G) c.855+38157C>G (n.855+38157C>G) | dbSNP |
| 2 | g.233656722G>C | CA2533085517 | UGT1A10,UGT1A8 | c.855+19345G>C (n.855+19345G>C) c.855+38160G>C (n.855+38160G>C) | |
| 2 | g.233656723C= | CA1335844080 | UGT1A10,UGT1A8 | c.855+19346C= (n.855+19346C=) c.855+38161C= (n.855+38161C=) | |
| 2 | g.233656723C>G | CA766270282 | UGT1A10,UGT1A8 | c.855+19346C>G (n.855+19346C>G) c.855+38161C>G (n.855+38161C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656730T>C | CA2754690796 | UGT1A10,UGT1A8 | c.855+19353T>C (n.855+19353T>C) c.855+38168T>C (n.855+38168T>C) | |
| 2 | g.233656730_233656731delinsTC | CA1335844081 | UGT1A10,UGT1A8 | c.855+19353_855+19354delinsTC (n.855+19353_855+19354delinsTC) c.855+38168_855+38169delinsTC (n.855+38168_855+38169delinsTC) | |
| 2 | g.233656731C>T | CA2551862713 | UGT1A10,UGT1A8 | c.855+19354C>T (n.855+19354C>T) c.855+38169C>T (n.855+38169C>T) | |
| 2 | g.233656733del | CA766270286 | UGT1A10,UGT1A8 | c.855+19356del (n.855+19356del) c.855+38171del (n.855+38171del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656732C= | CA1335844082 | UGT1A10,UGT1A8 | c.855+19355C= (n.855+19355C=) c.855+38170C= (n.855+38170C=) | |
| 2 | g.233656732C>T | CA1335844083 | UGT1A10,UGT1A8 | c.855+19355C>T (n.855+19355C>T) c.855+38170C>T (n.855+38170C>T) | dbSNP |
| 2 | g.233656733C= | CA1335844084 | UGT1A10,UGT1A8 | c.855+19356C= (n.855+19356C=) c.855+38171C= (n.855+38171C=) | |
| 2 | g.233656733C>T | CA766270287 | UGT1A10,UGT1A8 | c.855+19356C>T (n.855+19356C>T) c.855+38171C>T (n.855+38171C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656734G>A | CA540055397 | UGT1A10,UGT1A8 | c.855+19357G>A (n.855+19357G>A) c.855+38172G>A (n.855+38172G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656734G= | CA1335844085 | UGT1A10,UGT1A8 | c.855+19357G= (n.855+19357G=) c.855+38172G= (n.855+38172G=) | |
| 2 | g.233656736C= | CA1335844086 | UGT1A10,UGT1A8 | c.855+19359C= (n.855+19359C=) c.855+38174C= (n.855+38174C=) | |
| 2 | g.233656736C>G | CA1335844087 | UGT1A10,UGT1A8 | c.855+19359C>G (n.855+19359C>G) c.855+38174C>G (n.855+38174C>G) | dbSNP |
| 2 | g.233656736C>T | CA67595023 | UGT1A10,UGT1A8 | c.855+19359C>T (n.855+19359C>T) c.855+38174C>T (n.855+38174C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656737G>A | CA67595030 | UGT1A10,UGT1A8 | c.855+19360G>A (n.855+19360G>A) c.855+38175G>A (n.855+38175G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656737G= | CA1335844088 | UGT1A10,UGT1A8 | c.855+19360G= (n.855+19360G=) c.855+38175G= (n.855+38175G=) | |
| 2 | g.233656739G>A | CA540055401 | UGT1A10,UGT1A8 | c.855+19362G>A (n.855+19362G>A) c.855+38177G>A (n.855+38177G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656739G>C | CA766270296 | UGT1A10,UGT1A8 | c.855+19362G>C (n.855+19362G>C) c.855+38177G>C (n.855+38177G>C) | dbSNP |
| 2 | g.233656739G= | CA1335844089 | UGT1A10,UGT1A8 | c.855+19362G= (n.855+19362G=) c.855+38177G= (n.855+38177G=) | |
| 2 | g.233656739G>T | CA1335844090 | UGT1A10,UGT1A8 | c.855+19362G>T (n.855+19362G>T) c.855+38177G>T (n.855+38177G>T) | dbSNP |
| 2 | g.233656740G>A | CA67595035 | UGT1A10,UGT1A8 | c.855+19363G>A (n.855+19363G>A) c.855+38178G>A (n.855+38178G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656740G= | CA1335844091 | UGT1A10,UGT1A8 | c.855+19363G= (n.855+19363G=) c.855+38178G= (n.855+38178G=) | |
| 2 | g.233656740G>T | CA766270301 | UGT1A10,UGT1A8 | c.855+19363G>T (n.855+19363G>T) c.855+38178G>T (n.855+38178G>T) | dbSNP |
| 2 | g.233656741C= | CA1335844092 | UGT1A10,UGT1A8 | c.855+19364C= (n.855+19364C=) c.855+38179C= (n.855+38179C=) | |
| 2 | g.233656741C>T | CA67595041 | UGT1A10,UGT1A8 | c.855+19364C>T (n.855+19364C>T) c.855+38179C>T (n.855+38179C>T) | dbSNP |
| 2 | g.233656746A= | CA1335844093 | UGT1A10,UGT1A8 | c.855+19369A= (n.855+19369A=) c.855+38184A= (n.855+38184A=) | |
| 2 | g.233656746A>T | CA67595047 | UGT1A10,UGT1A8 | c.855+19369A>T (n.855+19369A>T) c.855+38184A>T (n.855+38184A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656749C= | CA1335844094 | UGT1A10,UGT1A8 | c.855+19372C= (n.855+19372C=) c.855+38187C= (n.855+38187C=) | |
| 2 | g.233656749C>G | CA1335844095 | UGT1A10,UGT1A8 | c.855+19372C>G (n.855+19372C>G) c.855+38187C>G (n.855+38187C>G) | dbSNP |
| 2 | g.233656749C>T | CA1335844096 | UGT1A10,UGT1A8 | c.855+19372C>T (n.855+19372C>T) c.855+38187C>T (n.855+38187C>T) | dbSNP |
| 2 | g.233656750A= | CA1335844097 | UGT1A10,UGT1A8 | c.855+19373A= (n.855+19373A=) c.855+38188A= (n.855+38188A=) | |
| 2 | g.233656750A>G | CA1043540180 | UGT1A10,UGT1A8 | c.855+19373A>G (n.855+19373A>G) c.855+38188A>G (n.855+38188A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656755T>C | CA1335844099 | UGT1A10,UGT1A8 | c.855+19378T>C (n.855+19378T>C) c.855+38193T>C (n.855+38193T>C) | dbSNP |
| 2 | g.233656755T>G | CA67595053 | UGT1A10,UGT1A8 | c.855+19378T>G (n.855+19378T>G) c.855+38193T>G (n.855+38193T>G) | dbSNP |
| 2 | g.233656755T= | CA1335844098 | UGT1A10,UGT1A8 | c.855+19378T= (n.855+19378T=) c.855+38193T= (n.855+38193T=) | |
| 2 | g.233656756G= | CA1335844100 | UGT1A10,UGT1A8 | c.855+19379G= (n.855+19379G=) c.855+38194G= (n.855+38194G=) | |
| 2 | g.233656756G>T | CA766270309 | UGT1A10,UGT1A8 | c.855+19379G>T (n.855+19379G>T) c.855+38194G>T (n.855+38194G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656758A= | CA1335844101 | UGT1A10,UGT1A8 | c.855+19381A= (n.855+19381A=) c.855+38196A= (n.855+38196A=) | |
| 2 | g.233656758A>C | CA766270312 | UGT1A10,UGT1A8 | c.855+19381A>C (n.855+19381A>C) c.855+38196A>C (n.855+38196A>C) | dbSNP |
| 2 | g.233656759G>A | CA1335844103 | UGT1A10,UGT1A8 | c.855+19382G>A (n.855+19382G>A) c.855+38197G>A (n.855+38197G>A) | dbSNP |
| 2 | g.233656759G= | CA1335844102 | UGT1A10,UGT1A8 | c.855+19382G= (n.855+19382G=) c.855+38197G= (n.855+38197G=) | |
| 2 | g.233656760G= | CA1335844104 | UGT1A10,UGT1A8 | c.855+19383G= (n.855+19383G=) c.855+38198G= (n.855+38198G=) | |
| 2 | g.233656760G>T | CA766270313 | UGT1A10,UGT1A8 | c.855+19383G>T (n.855+19383G>T) c.855+38198G>T (n.855+38198G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656761T>A | CA540055403 | UGT1A10,UGT1A8 | c.855+19384T>A (n.855+19384T>A) c.855+38199T>A (n.855+38199T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656761T= | CA1335844105 | UGT1A10,UGT1A8 | c.855+19384T= (n.855+19384T=) c.855+38199T= (n.855+38199T=) | |
| 2 | g.233656767T>C | CA766270320 | UGT1A10,UGT1A8 | c.855+19390T>C (n.855+19390T>C) c.855+38205T>C (n.855+38205T>C) | dbSNP |
| 2 | g.233656767T= | CA1335844106 | UGT1A10,UGT1A8 | c.855+19390T= (n.855+19390T=) c.855+38205T= (n.855+38205T=) | |
| 2 | g.233656768G>A | CA1043540182 | UGT1A10,UGT1A8 | c.855+19391G>A (n.855+19391G>A) c.855+38206G>A (n.855+38206G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656768G= | CA1335844107 | UGT1A10,UGT1A8 | c.855+19391G= (n.855+19391G=) c.855+38206G= (n.855+38206G=) | |
| 2 | g.233656771G>A | CA1335844109 | UGT1A10,UGT1A8 | c.855+19394G>A (n.855+19394G>A) c.855+38209G>A (n.855+38209G>A) | dbSNP |
| 2 | g.233656771G= | CA1335844108 | UGT1A10,UGT1A8 | c.855+19394G= (n.855+19394G=) c.855+38209G= (n.855+38209G=) | |
| 2 | g.233656772T>C | CA67595058 | UGT1A10,UGT1A8 | c.855+19395T>C (n.855+19395T>C) c.855+38210T>C (n.855+38210T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656772T= | CA1335844110 | UGT1A10,UGT1A8 | c.855+19395T= (n.855+19395T=) c.855+38210T= (n.855+38210T=) | |
| 2 | g.233656773C>A | CA1335844112 | UGT1A10,UGT1A8 | c.855+19396C>A (n.855+19396C>A) c.855+38211C>A (n.855+38211C>A) | dbSNP |
| 2 | g.233656773C= | CA1335844111 | UGT1A10,UGT1A8 | c.855+19396C= (n.855+19396C=) c.855+38211C= (n.855+38211C=) | |
| 2 | g.233656773C>T | CA540055407 | UGT1A10,UGT1A8 | c.855+19396C>T (n.855+19396C>T) c.855+38211C>T (n.855+38211C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656775C= | CA1335844113 | UGT1A10,UGT1A8 | c.855+19398C= (n.855+19398C=) c.855+38213C= (n.855+38213C=) | |
| 2 | g.233656775C>T | CA67595059 | UGT1A10,UGT1A8 | c.855+19398C>T (n.855+19398C>T) c.855+38213C>T (n.855+38213C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656776G>A | CA67595061 | UGT1A10,UGT1A8 | c.855+19399G>A (n.855+19399G>A) c.855+38214G>A (n.855+38214G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656776G= | CA1335844114 | UGT1A10,UGT1A8 | c.855+19399G= (n.855+19399G=) c.855+38214G= (n.855+38214G=) | |
| 2 | g.233656776G>T | CA2701626969 | UGT1A10,UGT1A8 | c.855+19399G>T (n.855+19399G>T) c.855+38214G>T (n.855+38214G>T) | dbSNP |
| 2 | g.233656778T>C | CA2701877483 | UGT1A10,UGT1A8 | c.855+19401T>C (n.855+19401T>C) c.855+38216T>C (n.855+38216T>C) | dbSNP |
| 2 | g.233656782C= | CA1335844115 | UGT1A10,UGT1A8 | c.855+19405C= (n.855+19405C=) c.855+38220C= (n.855+38220C=) | |
| 2 | g.233656782C>G | CA67595080 | UGT1A10,UGT1A8 | c.855+19405C>G (n.855+19405C>G) c.855+38220C>G (n.855+38220C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656782C>T | CA67595068 | UGT1A10,UGT1A8 | c.855+19405C>T (n.855+19405C>T) c.855+38220C>T (n.855+38220C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656788G>C | CA1335844117 | UGT1A10,UGT1A8 | c.855+19411G>C (n.855+19411G>C) c.855+38226G>C (n.855+38226G>C) | dbSNP |
| 2 | g.233656788G= | CA1335844116 | UGT1A10,UGT1A8 | c.855+19411G= (n.855+19411G=) c.855+38226G= (n.855+38226G=) | |
| 2 | g.233656789G>C | CA67595084 | UGT1A10,UGT1A8 | c.855+19412G>C (n.855+19412G>C) c.855+38227G>C (n.855+38227G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656789G= | CA1335844118 | UGT1A10,UGT1A8 | c.855+19412G= (n.855+19412G=) c.855+38227G= (n.855+38227G=) | |
| 2 | g.233656790T>G | CA1335844120 | UGT1A10,UGT1A8 | c.855+19413T>G (n.855+19413T>G) c.855+38228T>G (n.855+38228T>G) | dbSNP |
| 2 | g.233656790T= | CA1335844119 | UGT1A10,UGT1A8 | c.855+19413T= (n.855+19413T=) c.855+38228T= (n.855+38228T=) | |
| 2 | g.233656792C>A | CA2581817254 | UGT1A10,UGT1A8 | c.855+19415C>A (n.855+19415C>A) c.855+38230C>A (n.855+38230C>A) | |
| 2 | g.233656792C= | CA1335844121 | UGT1A10,UGT1A8 | c.855+19415C= (n.855+19415C=) c.855+38230C= (n.855+38230C=) | |
| 2 | g.233656792C>G | CA2581817255 | UGT1A10,UGT1A8 | c.855+19415C>G (n.855+19415C>G) c.855+38230C>G (n.855+38230C>G) | |
| 2 | g.233656792C>T | CA11241292 | UGT1A10,UGT1A8 | c.855+19415C>T (n.855+19415C>T) c.855+38230C>T (n.855+38230C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233656793G>A | CA766270328 | UGT1A10,UGT1A8 | c.855+19416G>A (n.855+19416G>A) c.855+38231G>A (n.855+38231G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656793G>C | CA766270326 | UGT1A10,UGT1A8 | c.855+19416G>C (n.855+19416G>C) c.855+38231G>C (n.855+38231G>C) | dbSNP |
| 2 | g.233656793G= | CA1335844122 | UGT1A10,UGT1A8 | c.855+19416G= (n.855+19416G=) c.855+38231G= (n.855+38231G=) | |
| 2 | g.233656793G>T | CA1335844123 | UGT1A10,UGT1A8 | c.855+19416G>T (n.855+19416G>T) c.855+38231G>T (n.855+38231G>T) | dbSNP |
| 2 | g.233656794A= | CA1335844124 | UGT1A10,UGT1A8 | c.855+19417A= (n.855+19417A=) c.855+38232A= (n.855+38232A=) | |
| 2 | g.233656794A>G | CA1043540195 | UGT1A10,UGT1A8 | c.855+19417A>G (n.855+19417A>G) c.855+38232A>G (n.855+38232A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233656799_233656802delinsCTTG | CA1335844125 | UGT1A10,UGT1A8 | c.855+19422_855+19425delinsCTTG (n.855+19422_855+19425delinsCTTG) c.855+38237_855+38240delinsCTTG (n.855+38237_855+38240delinsCTTG) | |
| 2 | g.233656804_233656806del | CA67595105 | UGT1A10,UGT1A8 | c.855+19427_855+19429del (n.855+19427_855+19429del) c.855+38242_855+38244del (n.855+38242_855+38244del) | dbSNP gnomAD v3 gnomAD v4 |