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 |
|---|---|---|---|---|---|
| 12 | g.88118536_88118537del | CA233679 | CEP290 | c.1665_1666del (p.Lys555AsnfsTer20) c.1611_1612del (p.Lys537AsnfsTer20) n.3334_3335del c.1665_1666del (p.Lys555AsnfsTer24) c.1644_1645del (p.Lys548AsnfsTer20) c.*211_*212del (n.*211_*212del) n.1892_1893del c.*2620_*2621del (n.*2620_*2621del) n.3728_3729del c.*122_*123del (n.*122_*123del) c.1671_1672del (p.Lys557AsnfsTer20) c.1563_1564del (p.Lys521AsnfsTer20) c.831_832del (p.Lys277AsnfsTer20) c.126_127del (p.Lys42AsnfsTer20) n.2009_2010del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88118537del | CA277812 | CEP290 | c.1666del (p.Ile556PhefsTer17) c.1612del (p.Ile538PhefsTer17) n.3335del c.1666del (p.Ile556PhefsTer?) c.1645del (p.Ile549PhefsTer17) c.*212del (n.*212del) n.1893del c.*2621del (n.*2621del) n.3729del c.*123del (n.*123del) c.1672del (p.Ile558PhefsTer17) c.1564del (p.Ile522PhefsTer17) c.832del (p.Ile278PhefsTer17) c.127del (p.Ile43PhefsTer17) n.2010del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.88118537dup | CA277788 | CEP290 | c.1666dup (p.Ile556AsnfsTer20) c.1612dup (p.Ile538AsnfsTer20) n.3335dup c.1666dup (p.Ile556AsnfsTer24) c.1645dup (p.Ile549AsnfsTer20) c.*212dup (n.*212dup) n.1893dup c.*2621dup (n.*2621dup) n.3729dup c.*123dup (n.*123dup) c.1672dup (p.Ile558AsnfsTer20) c.1564dup (p.Ile522AsnfsTer20) c.832dup (p.Ile278AsnfsTer20) c.127dup (p.Ile43AsnfsTer20) n.2010dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |