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 |
|---|---|---|---|---|---|
| Y | g.20756686A>G | CA2766256435 | RPS4Y2 | c.4-92A>G (n.4-92A>G) | |
| Y | g.20756687T>C | CA2766256436 | RPS4Y2 | c.4-91T>C (n.4-91T>C) | |
| Y | g.20756690C>A | CA2766256437 | RPS4Y2 | c.4-88C>A (n.4-88C>A) | |
| Y | g.20756691C= | CA2471054271 | RPS4Y2 | c.4-87C= (n.4-87C=) | |
| Y | g.20756691C>T | CA337511036 | RPS4Y2 | c.4-87C>T (n.4-87C>T) | dbSNP |
| Y | g.20756692C= | CA2471054272 | RPS4Y2 | c.4-86C= (n.4-86C=) | |
| Y | g.20756692C>T | CA337511038 | RPS4Y2 | c.4-86C>T (n.4-86C>T) | dbSNP |
| Y | g.20756693G>A | CA2579749834 | RPS4Y2 | c.4-85G>A (n.4-85G>A) | |
| Y | g.20756693G= | CA2471054273 | RPS4Y2 | c.4-85G= (n.4-85G=) | |
| Y | g.20756693G>T | CA337511039 | RPS4Y2 | c.4-85G>T (n.4-85G>T) | dbSNP |
| Y | g.20756701T>C | CA2579749835 | RPS4Y2 | c.4-77T>C (n.4-77T>C) | |
| Y | g.20756704_20756712del | CA2579749836 | RPS4Y2 | c.4-74_4-66del (n.4-74_4-66del) | |
| Y | g.20756705T>G | CA2766256438 | RPS4Y2 | c.4-73T>G (n.4-73T>G) | |
| Y | g.20756706A>T | CA2579749837 | RPS4Y2 | c.4-72A>T (n.4-72A>T) | |
| Y | g.20756710C>G | CA2766256439 | RPS4Y2 | c.4-68C>G (n.4-68C>G) | |
| Y | g.20756710C>T | CA2766256440 | RPS4Y2 | c.4-68C>T (n.4-68C>T) | |
| Y | g.20756711T>A | CA923787937 | RPS4Y2 | c.4-67T>A (n.4-67T>A) | |
| Y | g.20756712G>A | CA2579749838 | RPS4Y2 | c.4-66G>A (n.4-66G>A) | |
| Y | g.20756721G>C | CA923787944 | RPS4Y2 | c.4-57G>C (n.4-57G>C) | dbSNP |
| Y | g.20756721G= | CA2471054274 | RPS4Y2 | c.4-57G= (n.4-57G=) | |
| Y | g.20756723C>T | CA2766256441 | RPS4Y2 | c.4-55C>T (n.4-55C>T) | |
| Y | g.20756730C>G | CA2766256442 | RPS4Y2 | c.4-48C>G (n.4-48C>G) | |
| Y | g.20756732G>A | CA2579749839 | RPS4Y2 | c.4-46G>A (n.4-46G>A) | |
| Y | g.20756732G>T | CA2766256443 | RPS4Y2 | c.4-46G>T (n.4-46G>T) | |
| Y | g.20756745A>G | CA658489020 | RPS4Y2 | c.4-33A>G (n.4-33A>G) | COSMIC |
| Y | g.20756746G>A | CA337511041 | RPS4Y2 | c.4-32G>A (n.4-32G>A) | dbSNP |
| Y | g.20756746G= | CA2471054275 | RPS4Y2 | c.4-32G= (n.4-32G=) | |
| Y | g.20756750C>G | CA2766256444 | RPS4Y2 | c.4-28C>G (n.4-28C>G) | |
| Y | g.20756752C= | CA2471054276 | RPS4Y2 | c.4-26C= (n.4-26C=) | |
| Y | g.20756752C>G | CA10575170 | RPS4Y2 | c.4-26C>G (n.4-26C>G) | dbSNP ExAC gnomAD v2 |
| Y | g.20756754_20756755delinsGA | CA2471054277 | RPS4Y2 | c.4-24_4-23delinsGA (n.4-24_4-23delinsGA) | |
| Y | g.20756759del | CA337511044 | RPS4Y2 | c.4-19del (n.4-19del) | dbSNP |
| Y | g.20756758A>C | CA923787951 | RPS4Y2 | c.4-20A>C (n.4-20A>C) | |
| Y | g.20756759A>C | CA2766256445 | RPS4Y2 | c.4-19A>C (n.4-19A>C) | |
| Y | g.20756759A>G | CA2766256446 | RPS4Y2 | c.4-19A>G (n.4-19A>G) | |
| Y | g.20756760G>A | CA2766256447 | RPS4Y2 | c.4-18G>A (n.4-18G>A) | |
| Y | g.20756760G= | CA2471054278 | RPS4Y2 | c.4-18G= (n.4-18G=) | |
| Y | g.20756760G>T | CA2471054279 | RPS4Y2 | c.4-18G>T (n.4-18G>T) | dbSNP |
| Y | g.20756762T>C | CA2766256448 | RPS4Y2 | c.4-16T>C (n.4-16T>C) | |
| Y | g.20756763T>C | CA923787953 | RPS4Y2 | c.4-15T>C (n.4-15T>C) | |
| Y | g.20756763T>G | CA923788006 | RPS4Y2 | c.4-15T>G (n.4-15T>G) | dbSNP |
| Y | g.20756763T= | CA2471054280 | RPS4Y2 | c.4-15T= (n.4-15T=) | |
| Y | g.20756764G>A | CA2766256449 | RPS4Y2 | c.4-14G>A (n.4-14G>A) | |
| Y | g.20756764G>C | CA2766256450 | RPS4Y2 | c.4-14G>C (n.4-14G>C) | |
| Y | g.20756765G>C | CA2766256451 | RPS4Y2 | c.4-13G>C (n.4-13G>C) | |
| Y | g.20756766T>G | CA2766256452 | RPS4Y2 | c.4-12T>G (n.4-12T>G) | |
| Y | g.20756769C>A | CA2579749840 | RPS4Y2 | c.4-9C>A (n.4-9C>A) | |
| Y | g.20756769C= | CA2471054281 | RPS4Y2 | c.4-9C= (n.4-9C=) | |
| Y | g.20756769C>G | CA2471054282 | RPS4Y2 | c.4-9C>G (n.4-9C>G) | dbSNP |
| Y | g.20756771T>C | CA923788011 | RPS4Y2 | c.4-7T>C (n.4-7T>C) | |
| Y | g.20756775C>T | CA2766256453 | RPS4Y2 | c.4-3C>T (n.4-3C>T) | |
| Y | g.20756776A>C | CA414857731 | RPS4Y2 | c.4-2A>C (n.4-2A>C) | |
| Y | g.20756776A>G | CA414857732 | RPS4Y2 | c.4-2A>G (n.4-2A>G) | |
| Y | g.20756776A>T | CA414857733 | RPS4Y2 | c.4-2A>T (n.4-2A>T) | |
| Y | g.20756777G>A | CA414857734 | RPS4Y2 | c.4-1G>A (n.4-1G>A) | |
| Y | g.20756777G>C | CA414857735 | RPS4Y2 | c.4-1G>C (n.4-1G>C) | |
| Y | g.20756777G>T | CA414857736 | RPS4Y2 | c.4-1G>T (n.4-1G>T) | |
| Y | g.20756778G>A | CA414857737 | RPS4Y2 | c.4G>A (p.Ala2Thr) | COSMIC |
| Y | g.20756778G>C | CA414857738 | RPS4Y2 | c.4G>C (p.Ala2Pro) | |
| Y | g.20756778G= | CA2471054283 | RPS4Y2 | c.4G= (p.Ala2=) | |
| Y | g.20756778G>T | CA414857739 | RPS4Y2 | c.4G>T (p.Ala2Ser) | dbSNP gnomAD v2 |
| Y | g.20756779C>A | CA414857742 | RPS4Y2 | c.5C>A (p.Ala2Asp) | |
| Y | g.20756779C>G | CA414857740 | RPS4Y2 | c.5C>G (p.Ala2Gly) | |
| Y | g.20756779C>T | CA414857741 | RPS4Y2 | c.5C>T (p.Ala2Val) | |
| Y | g.20756780C>A | CA520175326 | RPS4Y2 | c.6C>A (p.Ala2=) | |
| Y | g.20756780C>G | CA520175327 | RPS4Y2 | c.6C>G (p.Ala2=) | |
| Y | g.20756780C>T | CA520175329 | RPS4Y2 | c.6C>T (p.Ala2=) | |
| Y | g.20756781C>A | CA520175331 | RPS4Y2 | c.7C>A (p.Arg3=) | |
| Y | g.20756781C>G | CA414857743 | RPS4Y2 | c.7C>G (p.Arg3Gly) | |
| Y | g.20756781C>T | CA414857744 | RPS4Y2 | c.7C>T (p.Arg3Trp) | |
| Y | g.20756782G>A | CA414857745 | RPS4Y2 | c.8G>A (p.Arg3Gln) | dbSNP gnomAD v2 COSMIC |
| Y | g.20756782G>C | CA414857747 | RPS4Y2 | c.8G>C (p.Arg3Pro) | |
| Y | g.20756782G= | CA2471054284 | RPS4Y2 | c.8G= (p.Arg3=) | |
| Y | g.20756782G>T | CA414857746 | RPS4Y2 | c.8G>T (p.Arg3Leu) | |
| Y | g.20756783G>A | CA520175341 | RPS4Y2 | c.9G>A (p.Arg3=) | |
| Y | g.20756783G>C | CA520175340 | RPS4Y2 | c.9G>C (p.Arg3=) | |
| Y | g.20756783G>T | CA520175339 | RPS4Y2 | c.9G>T (p.Arg3=) | |
| Y | g.20756784G>A | CA414857748 | RPS4Y2 | c.10G>A (p.Gly4Ser) | |
| Y | g.20756784G>C | CA414857750 | RPS4Y2 | c.10G>C (p.Gly4Arg) | |
| Y | g.20756784G>T | CA414857749 | RPS4Y2 | c.10G>T (p.Gly4Cys) | |
| Y | g.20756785G>A | CA414857751 | RPS4Y2 | c.11G>A (p.Gly4Asp) | |
| Y | g.20756785G>C | CA414857752 | RPS4Y2 | c.11G>C (p.Gly4Ala) | |
| Y | g.20756785G>T | CA414857753 | RPS4Y2 | c.11G>T (p.Gly4Val) | |
| Y | g.20756786C>A | CA520175353 | RPS4Y2 | c.12C>A (p.Gly4=) | |
| Y | g.20756786C>G | CA520175351 | RPS4Y2 | c.12C>G (p.Gly4=) | |
| Y | g.20756786C>T | CA520175349 | RPS4Y2 | c.12C>T (p.Gly4=) |