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 |
|---|---|---|---|---|---|
| 5 | g.76191327C= | CA1556465975 | SV2C | c.581-3592C= (n.581-3592C=) c.9-18409C= (n.9-18409C=) | |
| 5 | g.76191327C>T | CA121268741 | SV2C | c.581-3592C>T (n.581-3592C>T) c.9-18409C>T (n.9-18409C>T) | dbSNP |
| 5 | g.76191328C= | CA1556465978 | SV2C | c.581-3591C= (n.581-3591C=) c.9-18408C= (n.9-18408C=) | |
| 5 | g.76191328C>T | CA560607774 | SV2C | c.581-3591C>T (n.581-3591C>T) c.9-18408C>T (n.9-18408C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191329T>C | CA121268743 | SV2C | c.581-3590T>C (n.581-3590T>C) c.9-18407T>C (n.9-18407T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191329T= | CA1556465980 | SV2C | c.581-3590T= (n.581-3590T=) c.9-18407T= (n.9-18407T=) | |
| 5 | g.76191330T>C | CA1556465982 | SV2C | c.581-3589T>C (n.581-3589T>C) c.9-18406T>C (n.9-18406T>C) | dbSNP |
| 5 | g.76191330T= | CA1556465984 | SV2C | c.581-3589T= (n.581-3589T=) c.9-18406T= (n.9-18406T=) | |
| 5 | g.76191334A= | CA1556465985 | SV2C | c.581-3585A= (n.581-3585A=) c.9-18402A= (n.9-18402A=) | |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCT | CA1077650989 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCT (n.581-3584_581-3583insTCTGCCTCTGGCCCCT) c.9-18401_9-18400insTCTGCCTCTGGCCCCT (n.9-18401_9-18400insTCTGCCTCTGGCCCCT) | gnomAD v3 gnomAD v4 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTT | CA917505429 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTT (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTT) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTT (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTT) | dbSNP |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCT | CA1077650990 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCT (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCT) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCT (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCT) | gnomAD v3 gnomAD v4 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCT | CA560607776 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCT (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCT) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCT (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCT) | gnomAD v2 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCT | CA560607777 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCT (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCT) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCT (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCT) | gnomAD v2 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTT | CA560607778 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTT (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTT) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTT (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTT) | gnomAD v2 |
| 5 | g.76191335_76191336insTCTGCCTCTGG | CA1077650995 | SV2C | c.581-3584_581-3583insTCTGCCTCTGG (n.581-3584_581-3583insTCTGCCTCTGG) c.9-18401_9-18400insTCTGCCTCTGG (n.9-18401_9-18400insTCTGCCTCTGG) | gnomAD v3 gnomAD v4 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGC | CA560607779 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGC (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGC) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGC (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGC) | gnomAD v2 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTC | CA560607780 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTC (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTC) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTC (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTC) | gnomAD v2 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCC | CA560607783 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCC (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCC) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCC (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCC) | gnomAD v2 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAA | CA560607785 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAA (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAA) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAA (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAA) | gnomAD v2 |
| 5 | g.76191335_76191336insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCC | CA560607786 | SV2C | c.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCC (n.581-3584_581-3583insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCC) c.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCC (n.9-18401_9-18400insTCTGCCTCTGGCCCCTTTCAAATCTCATGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCC) | gnomAD v2 |
| 5 | g.76191337A= | CA1556465987 | SV2C | c.581-3582A= (n.581-3582A=) c.9-18399A= (n.9-18399A=) | |
| 5 | g.76191337A>G | CA1556465988 | SV2C | c.581-3582A>G (n.581-3582A>G) c.9-18399A>G (n.9-18399A>G) | dbSNP |
| 5 | g.76191338G>A | CA2709272474 | SV2C | c.581-3581G>A (n.581-3581G>A) c.9-18398G>A (n.9-18398G>A) | dbSNP |
| 5 | g.76191341A= | CA1556465990 | SV2C | c.581-3578A= (n.581-3578A=) c.9-18395A= (n.9-18395A=) | |
| 5 | g.76191341A>G | CA1077651013 | SV2C | c.581-3578A>G (n.581-3578A>G) c.9-18395A>G (n.9-18395A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191345C= | CA1556465992 | SV2C | c.581-3574C= (n.581-3574C=) c.9-18391C= (n.9-18391C=) | |
| 5 | g.76191345C>T | CA121268753 | SV2C | c.581-3574C>T (n.581-3574C>T) c.9-18391C>T (n.9-18391C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191346G>A | CA121268773 | SV2C | c.581-3573G>A (n.581-3573G>A) c.9-18390G>A (n.9-18390G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191346G= | CA1556465994 | SV2C | c.581-3573G= (n.581-3573G=) c.9-18390G= (n.9-18390G=) | |
| 5 | g.76191353T>C | CA814048324 | SV2C | c.581-3566T>C (n.581-3566T>C) c.9-18383T>C (n.9-18383T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191353T= | CA1556465996 | SV2C | c.581-3566T= (n.581-3566T=) c.9-18383T= (n.9-18383T=) | |
| 5 | g.76191355A>G | CA2709272525 | SV2C | c.581-3564A>G (n.581-3564A>G) c.9-18381A>G (n.9-18381A>G) | dbSNP |
| 5 | g.76191358C= | CA1556465998 | SV2C | c.581-3561C= (n.581-3561C=) c.9-18378C= (n.9-18378C=) | |
| 5 | g.76191358C>G | CA121268782 | SV2C | c.581-3561C>G (n.581-3561C>G) c.9-18378C>G (n.9-18378C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191358_76191359delinsCA | CA1556466000 | SV2C | c.581-3561_581-3560delinsCA (n.581-3561_581-3560delinsCA) c.9-18378_9-18377delinsCA (n.9-18378_9-18377delinsCA) | |
| 5 | g.76191359del | CA1556466004 | SV2C | c.581-3560del (n.581-3560del) c.9-18377del (n.9-18377del) | dbSNP |
| 5 | g.76191359A= | CA1556466005 | SV2C | c.581-3560A= (n.581-3560A=) c.9-18377A= (n.9-18377A=) | |
| 5 | g.76191359A>G | CA121268792 | SV2C | c.581-3560A>G (n.581-3560A>G) c.9-18377A>G (n.9-18377A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191363T>A | CA121268803 | SV2C | c.581-3556T>A (n.581-3556T>A) c.9-18373T>A (n.9-18373T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191363T>C | CA915150146 | SV2C | c.581-3556T>C (n.581-3556T>C) c.9-18373T>C (n.9-18373T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191363T= | CA1556466007 | SV2C | c.581-3556T= (n.581-3556T=) c.9-18373T= (n.9-18373T=) | |
| 5 | g.76191364_76191365delinsGT | CA1556466010 | SV2C | c.581-3555_581-3554delinsGT (n.581-3555_581-3554delinsGT) c.9-18372_9-18371delinsGT (n.9-18372_9-18371delinsGT) | |
| 5 | g.76191365T>C | CA560607788 | SV2C | c.581-3554T>C (n.581-3554T>C) c.9-18371T>C (n.9-18371T>C) | gnomAD v2 |
| 5 | g.76191365T>G | CA1556466015 | SV2C | c.581-3554T>G (n.581-3554T>G) c.9-18371T>G (n.9-18371T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191365T= | CA1556466013 | SV2C | c.581-3554T= (n.581-3554T=) c.9-18371T= (n.9-18371T=) | |
| 5 | g.76191369del | CA1556466012 | SV2C | c.581-3550del (n.581-3550del) c.9-18367del (n.9-18367del) | dbSNP |
| 5 | g.76191371A= | CA1556466017 | SV2C | c.581-3548A= (n.581-3548A=) c.9-18365A= (n.9-18365A=) | |
| 5 | g.76191371A>G | CA121268806 | SV2C | c.581-3548A>G (n.581-3548A>G) c.9-18365A>G (n.9-18365A>G) | dbSNP |
| 5 | g.76191372T>C | CA1556466020 | SV2C | c.581-3547T>C (n.581-3547T>C) c.9-18364T>C (n.9-18364T>C) | dbSNP |
| 5 | g.76191372T= | CA1556466019 | SV2C | c.581-3547T= (n.581-3547T=) c.9-18364T= (n.9-18364T=) | |
| 5 | g.76191375A= | CA1556466022 | SV2C | c.581-3544A= (n.581-3544A=) c.9-18361A= (n.9-18361A=) | |
| 5 | g.76191375A>C | CA1556466023 | SV2C | c.581-3544A>C (n.581-3544A>C) c.9-18361A>C (n.9-18361A>C) | dbSNP |
| 5 | g.76191376A= | CA1556466025 | SV2C | c.581-3543A= (n.581-3543A=) c.9-18360A= (n.9-18360A=) | |
| 5 | g.76191376A>G | CA814048336 | SV2C | c.581-3543A>G (n.581-3543A>G) c.9-18360A>G (n.9-18360A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191377A= | CA1556466028 | SV2C | c.581-3542A= (n.581-3542A=) c.9-18359A= (n.9-18359A=) | |
| 5 | g.76191377A>C | CA2599642131 | SV2C | c.581-3542A>C (n.581-3542A>C) c.9-18359A>C (n.9-18359A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191377A>T | CA560607789 | SV2C | c.581-3542A>T (n.581-3542A>T) c.9-18359A>T (n.9-18359A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191379T>A | CA121268818 | SV2C | c.581-3540T>A (n.581-3540T>A) c.9-18357T>A (n.9-18357T>A) | dbSNP |
| 5 | g.76191379T>C | CA1556466030 | SV2C | c.581-3540T>C (n.581-3540T>C) c.9-18357T>C (n.9-18357T>C) | dbSNP |
| 5 | g.76191379T= | CA1556466031 | SV2C | c.581-3540T= (n.581-3540T=) c.9-18357T= (n.9-18357T=) | |
| 5 | g.76191381A= | CA1556466033 | SV2C | c.581-3538A= (n.581-3538A=) c.9-18355A= (n.9-18355A=) | |
| 5 | g.76191381A>C | CA1556466034 | SV2C | c.581-3538A>C (n.581-3538A>C) c.9-18355A>C (n.9-18355A>C) | dbSNP |
| 5 | g.76191381A>G | CA121268823 | SV2C | c.581-3538A>G (n.581-3538A>G) c.9-18355A>G (n.9-18355A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191382G>A | CA2767066033 | SV2C | c.581-3537G>A (n.581-3537G>A) c.9-18354G>A (n.9-18354G>A) | |
| 5 | g.76191386A= | CA1556466036 | SV2C | c.581-3533A= (n.581-3533A=) c.9-18350A= (n.9-18350A=) | |
| 5 | g.76191386A>G | CA121268829 | SV2C | c.581-3533A>G (n.581-3533A>G) c.9-18350A>G (n.9-18350A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191397G>A | CA1556466039 | SV2C | c.581-3522G>A (n.581-3522G>A) c.9-18339G>A (n.9-18339G>A) | dbSNP |
| 5 | g.76191397G= | CA1556466038 | SV2C | c.581-3522G= (n.581-3522G=) c.9-18339G= (n.9-18339G=) | |
| 5 | g.76191403G>A | CA1556466042 | SV2C | c.581-3516G>A (n.581-3516G>A) c.9-18333G>A (n.9-18333G>A) | dbSNP |
| 5 | g.76191403G= | CA1556466040 | SV2C | c.581-3516G= (n.581-3516G=) c.9-18333G= (n.9-18333G=) | |
| 5 | g.76191410T>C | CA1077651026 | SV2C | c.581-3509T>C (n.581-3509T>C) c.9-18326T>C (n.9-18326T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.76191410T= | CA1556466043 | SV2C | c.581-3509T= (n.581-3509T=) c.9-18326T= (n.9-18326T=) | |
| 5 | g.76191415T>G | CA1556466046 | SV2C | c.581-3504T>G (n.581-3504T>G) c.9-18321T>G (n.9-18321T>G) | dbSNP |
| 5 | g.76191415T= | CA1556466045 | SV2C | c.581-3504T= (n.581-3504T=) c.9-18321T= (n.9-18321T=) | |
| 5 | g.76191416A= | CA1556466048 | SV2C | c.581-3503A= (n.581-3503A=) c.9-18320A= (n.9-18320A=) | |
| 5 | g.76191416A>G | CA814048346 | SV2C | c.581-3503A>G (n.581-3503A>G) c.9-18320A>G (n.9-18320A>G) | dbSNP |
| 5 | g.76191419G= | CA1556466049 | SV2C | c.581-3500G= (n.581-3500G=) c.9-18317G= (n.9-18317G=) | |
| 5 | g.76191419G>T | CA121268836 | SV2C | c.581-3500G>T (n.581-3500G>T) c.9-18317G>T (n.9-18317G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191426C>A | CA121268842 | SV2C | c.581-3493C>A (n.581-3493C>A) c.9-18310C>A (n.9-18310C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.76191426C= | CA1556466052 | SV2C | c.581-3493C= (n.581-3493C=) c.9-18310C= (n.9-18310C=) | |
| 5 | g.76191426C>G | CA2581490355 | SV2C | c.581-3493C>G (n.581-3493C>G) c.9-18310C>G (n.9-18310C>G) | |
| 5 | g.76191426C>T | CA2581490354 | SV2C | c.581-3493C>T (n.581-3493C>T) c.9-18310C>T (n.9-18310C>T) |