Evidence Repository - SERVICE OUTAGE2026-04-17T09:00:00-0500 — 2026-04-22T17:00:00-0500
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
The Evidence Repository UI outage is being looked into.
It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215648587_215648600del | CA2650500259 | USH2A | c.14512_14525del (p.Gly4838LysfsTer21) | dbSNP gnomAD v4 |
| 1 | g.215648594G>A | CA143356 | USH2A | c.14516C>T (p.Thr4839Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215648594G>C | CA344833383 | USH2A | c.14516C>G (p.Thr4839Arg) | |
| 1 | g.215648594G= | CA1141657871 | USH2A | c.14516C= (p.Thr4839=) | dbSNP |
| 1 | g.215648594G>T | CA344833385 | USH2A | c.14516C>A (p.Thr4839Lys) | COSMIC COSMIC |
| 1 | g.215648594_215648599dup | CA3246640814 | USH2A | c.14511_14516dup (p.Thr4839_Leu4840insGlyThr) | ClinVar |
| 1 | g.215648595T>A | CA344833387 | USH2A | c.14515A>T (p.Thr4839Ser) | |
| 1 | g.215648595T>C | CA344833394 | USH2A | c.14515A>G (p.Thr4839Ala) | |
| 1 | g.215648595T>G | CA344833396 | USH2A | c.14515A>C (p.Thr4839Pro) | |
| 1 | g.215648596C>A | CA423425534 | USH2A | c.14514G>T (p.Gly4838=) | |
| 1 | g.215648596C>G | CA423425536 | USH2A | c.14514G>C (p.Gly4838=) | |
| 1 | g.215648596C>T | CA423425538 | USH2A | c.14514G>A (p.Gly4838=) | ClinVar |
| 1 | g.215648597C>A | CA1393006 | USH2A | c.14513G>T (p.Gly4838Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648597C= | CA1140614952 | USH2A | c.14513G= (p.Gly4838=) | dbSNP |
| 1 | g.215648597C>G | CA344833401 | USH2A | c.14513G>C (p.Gly4838Ala) | |
| 1 | g.215648597C>T | CA143354 | USH2A | c.14513G>A (p.Gly4838Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648598C>A | CA344833409 | USH2A | c.14512G>T (p.Gly4838Trp) | dbSNP gnomAD v4 |
| 1 | g.215648598C= | CA1144679276 | USH2A | c.14512G= (p.Gly4838=) | dbSNP |
| 1 | g.215648598C>G | CA344833407 | USH2A | c.14512G>C (p.Gly4838Arg) | |
| 1 | g.215648598C>T | CA1393007 | USH2A | c.14512G>A (p.Gly4838Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215648599G>A | CA1393008 | USH2A | c.14511C>T (p.Ile4837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215648599G>C | CA344833413 | USH2A | c.14511C>G (p.Ile4837Met) | |
| 1 | g.215648599G= | CA1141706556 | USH2A | c.14511C= (p.Ile4837=) | dbSNP |
| 1 | g.215648599G>T | CA423425543 | USH2A | c.14511C>A (p.Ile4837=) | |
| 1 | g.215648600A= | CA3077339190 | USH2A | c.14510T= (p.Ile4837=) | dbSNP |
| 1 | g.215648600A>C | CA344833415 | USH2A | c.14510T>G (p.Ile4837Ser) | |
| 1 | g.215648600A>G | CA344833417 | USH2A | c.14510T>C (p.Ile4837Thr) | dbSNP gnomAD v4 |
| 1 | g.215648600A>T | CA344833418 | USH2A | c.14510T>A (p.Ile4837Asn) | |
| 1 | g.215648601T>A | CA344833420 | USH2A | c.14509A>T (p.Ile4837Phe) | |
| 1 | g.215648601T>C | CA344833423 | USH2A | c.14509A>G (p.Ile4837Val) | ClinVar |
| 1 | g.215648601T>G | CA344833425 | USH2A | c.14509A>C (p.Ile4837Leu) | |
| 1 | g.215648602T>A | CA344833427 | USH2A | c.14508A>T (p.Gln4836His) | |
| 1 | g.215648602T>C | CA423425547 | USH2A | c.14508A>G (p.Gln4836=) | |
| 1 | g.215648602T>G | CA344833430 | USH2A | c.14508A>C (p.Gln4836His) | |
| 1 | g.215648603T>A | CA344833434 | USH2A | c.14507A>T (p.Gln4836Leu) | |
| 1 | g.215648603T>C | CA1393009 | USH2A | c.14507A>G (p.Gln4836Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648603T>G | CA344833437 | USH2A | c.14507A>C (p.Gln4836Pro) | |
| 1 | g.215648603T= | CA1143415420 | USH2A | c.14507A= (p.Gln4836=) | dbSNP |
| 1 | g.215648604G>A | CA344833441 | USH2A | c.14506C>T (p.Gln4836Ter) | |
| 1 | g.215648604G>C | CA344833443 | USH2A | c.14506C>G (p.Gln4836Glu) | |
| 1 | g.215648604G>T | CA344833439 | USH2A | c.14506C>A (p.Gln4836Lys) | |
| 1 | g.215648605T>A | CA423425549 | USH2A | c.14505A>T (p.Pro4835=) | |
| 1 | g.215648605T>C | CA423425550 | USH2A | c.14505A>G (p.Pro4835=) | COSMIC COSMIC |
| 1 | g.215648605T>G | CA423425551 | USH2A | c.14505A>C (p.Pro4835=) | |
| 1 | g.215648607_215648654del | CA2586968104 | USH2A | c.14458_14505del (p.Ala4820_Pro4835del) | ClinVar |
| 1 | g.215648606G>A | CA344833447 | USH2A | c.14504C>T (p.Pro4835Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215648606G>C | CA344833450 | USH2A | c.14504C>G (p.Pro4835Arg) | |
| 1 | g.215648606G= | CA1220363177 | USH2A | c.14504C= (p.Pro4835=) | dbSNP |
| 1 | g.215648606G>T | CA1393010 | USH2A | c.14504C>A (p.Pro4835Gln) | dbSNP ExAC gnomAD v2 |
| 1 | g.215648606_215648608delinsGGA | CA1220363178 | USH2A | c.14502_14504delinsTCC (p.Ser4834=) |