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 |
|---|---|---|---|---|---|
| 7 | g.27095730G>A | CA4196016 | HOXA1 | c.183C>T (p.Ile61=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095730G>C | CA4196015 | HOXA1 | c.183C>G (p.Ile61Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095730G= | CA1696187415 | HOXA1 | c.183C= (p.Ile61=) | |
| 7 | g.27095730G>T | CA454507803 | HOXA1 | c.183C>A (p.Ile61=) | |
| 7 | g.27095731A>C | CA367069329 | HOXA1 | c.182T>G (p.Ile61Ser) | |
| 7 | g.27095731A>G | CA367069330 | HOXA1 | c.182T>C (p.Ile61Thr) | |
| 7 | g.27095731A>T | CA367069332 | HOXA1 | c.182T>A (p.Ile61Asn) | |
| 7 | g.27095732T>A | CA367069334 | HOXA1 | c.181A>T (p.Ile61Phe) | |
| 7 | g.27095732T>C | CA367069337 | HOXA1 | c.181A>G (p.Ile61Val) | |
| 7 | g.27095732T>G | CA367069335 | HOXA1 | c.181A>C (p.Ile61Leu) | dbSNP |
| 7 | g.27095733C>A | CA367069338 | HOXA1 | c.180G>T (p.Gln60His) | gnomAD v4 COSMIC |
| 7 | g.27095733C>G | CA367069340 | HOXA1 | c.180G>C (p.Gln60His) | |
| 7 | g.27095733C>T | CA454507809 | HOXA1 | c.180G>A (p.Gln60=) | |
| 7 | g.27095733dup | CA2682128418 | HOXA1 | c.180dup (p.Ile61AspfsTer?) | gnomAD v4 |
| 7 | g.27095734T>A | CA367069341 | HOXA1 | c.179A>T (p.Gln60Leu) | |
| 7 | g.27095734T>C | CA367069342 | HOXA1 | c.179A>G (p.Gln60Arg) | gnomAD v4 |
| 7 | g.27095734T>G | CA367069344 | HOXA1 | c.179A>C (p.Gln60Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095734T= | CA1696187421 | HOXA1 | c.179A= (p.Gln60=) | |
| 7 | g.27095735G>A | CA367069346 | HOXA1 | c.178C>T (p.Gln60Ter) | |
| 7 | g.27095735G>C | CA367069348 | HOXA1 | c.178C>G (p.Gln60Glu) | |
| 7 | g.27095735G>T | CA367069349 | HOXA1 | c.178C>A (p.Gln60Lys) | |
| 7 | g.27095736C>A | CA454507815 | HOXA1 | c.177G>T (p.Val59=) | |
| 7 | g.27095736C>G | CA454507816 | HOXA1 | c.177G>C (p.Val59=) | |
| 7 | g.27095736C>T | CA454507818 | HOXA1 | c.177G>A (p.Val59=) | gnomAD v4 |
| 7 | g.27095737A= | CA1696187425 | HOXA1 | c.176T= (p.Val59=) | |
| 7 | g.27095737A>C | CA155901227 | HOXA1 | c.176T>G (p.Val59Gly) | dbSNP gnomAD v4 |
| 7 | g.27095737A>G | CA367069351 | HOXA1 | c.176T>C (p.Val59Ala) | |
| 7 | g.27095737A>T | CA367069353 | HOXA1 | c.176T>A (p.Val59Glu) | |
| 7 | g.27095738C>A | CA4196018 | HOXA1 | c.175G>T (p.Val59Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095738C= | CA1696187441 | HOXA1 | c.175G= (p.Val59=) | |
| 7 | g.27095738C>G | CA367069357 | HOXA1 | c.175G>C (p.Val59Leu) | gnomAD v4 |
| 7 | g.27095738C>T | CA367069356 | HOXA1 | c.175G>A (p.Val59Met) | dbSNP gnomAD v4 |
| 7 | g.27095743dup | CA4196017 | HOXA1 | c.175dup (p.Val59GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095743del | CA454507828 | HOXA1 | c.175del (p.Val59CysfsTer?) | gnomAD v4 COSMIC |
| 7 | g.27095739C>A | CA454507829 | HOXA1 | c.174G>T (p.Gly58=) | |
| 7 | g.27095739C= | CA1696187447 | HOXA1 | c.174G= (p.Gly58=) | |
| 7 | g.27095739C>G | CA4196019 | HOXA1 | c.174G>C (p.Gly58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095739C>T | CA454507830 | HOXA1 | c.174G>A (p.Gly58=) | dbSNP |
| 7 | g.27095740C>A | CA367069360 | HOXA1 | c.173G>T (p.Gly58Val) | |
| 7 | g.27095740C= | CA1696187453 | HOXA1 | c.173G= (p.Gly58=) | |
| 7 | g.27095740C>G | CA367069361 | HOXA1 | c.173G>C (p.Gly58Ala) | |
| 7 | g.27095740C>T | CA4196020 | HOXA1 | c.173G>A (p.Gly58Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095741C>A | CA367069363 | HOXA1 | c.172G>T (p.Gly58Trp) | |
| 7 | g.27095741C>G | CA367069366 | HOXA1 | c.172G>C (p.Gly58Arg) | |
| 7 | g.27095741C>T | CA367069364 | HOXA1 | c.172G>A (p.Gly58Arg) | |
| 7 | g.27095742C>A | CA367069368 | HOXA1 | c.171G>T (p.Arg57Ser) | |
| 7 | g.27095742C= | CA1696187457 | HOXA1 | c.171G= (p.Arg57=) | |
| 7 | g.27095742C>G | CA367069369 | HOXA1 | c.171G>C (p.Arg57Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.27095742C>T | CA454507839 | HOXA1 | c.171G>A (p.Arg57=) | |
| 7 | g.27095742_27095743insAAA | CA2774814827 | HOXA1 | c.170_171insTTT (p.Arg57delinsSerLeu) | |
| 7 | g.27095743C>A | CA367069371 | HOXA1 | c.170G>T (p.Arg57Met) | |
| 7 | g.27095743C= | CA1696187461 | HOXA1 | c.170G= (p.Arg57=) | |
| 7 | g.27095743C>G | CA367069373 | HOXA1 | c.170G>C (p.Arg57Thr) | |
| 7 | g.27095743C>T | CA4196021 | HOXA1 | c.170G>A (p.Arg57Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095744del | CA2714003324 | HOXA1 | c.169del (p.Arg57GlyfsTer?) | dbSNP |
| 7 | g.27095744T>A | CA367069376 | HOXA1 | c.169A>T (p.Arg57Trp) | |
| 7 | g.27095744T>C | CA367069377 | HOXA1 | c.169A>G (p.Arg57Gly) | |
| 7 | g.27095744T>G | CA454507842 | HOXA1 | c.169A>C (p.Arg57=) | |
| 7 | g.27095745G>A | CA454507843 | HOXA1 | c.168C>T (p.Gly56=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095745G>C | CA454507846 | HOXA1 | c.168C>G (p.Gly56=) | |
| 7 | g.27095745G= | CA1696187466 | HOXA1 | c.168C= (p.Gly56=) | |
| 7 | g.27095745G>T | CA454507847 | HOXA1 | c.168C>A (p.Gly56=) | dbSNP gnomAD v4 |
| 7 | g.27095745dup | CA2682128419 | HOXA1 | c.168dup (p.Arg57GlnfsTer?) | gnomAD v4 |
| 7 | g.27095746C>A | CA4196022 | HOXA1 | c.167G>T (p.Gly56Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095746C= | CA1696187469 | HOXA1 | c.167G= (p.Gly56=) | |
| 7 | g.27095746C>G | CA367069380 | HOXA1 | c.167G>C (p.Gly56Ala) | |
| 7 | g.27095746C>T | CA367069382 | HOXA1 | c.167G>A (p.Gly56Asp) | |
| 7 | g.27095747C>A | CA367069386 | HOXA1 | c.166G>T (p.Gly56Cys) | |
| 7 | g.27095747C>G | CA367069385 | HOXA1 | c.166G>C (p.Gly56Arg) | |
| 7 | g.27095747C>T | CA367069384 | HOXA1 | c.166G>A (p.Gly56Ser) | COSMIC |
| 7 | g.27095748C>A | CA454507852 | HOXA1 | c.165G>T (p.Val55=) | |
| 7 | g.27095748C= | CA1696187471 | HOXA1 | c.165G= (p.Val55=) | |
| 7 | g.27095748C>G | CA454507853 | HOXA1 | c.165G>C (p.Val55=) | |
| 7 | g.27095748C>T | CA10625955 | HOXA1 | c.165G>A (p.Val55=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.27095748_27095749delinsCA | CA1696187477 | HOXA1 | c.164_165delinsTG (p.Val55=) | |
| 7 | g.27095749del | CA837187616 | HOXA1 | c.164del (p.Val55GlyfsTer?) | dbSNP |
| 7 | g.27095749A>C | CA367069389 | HOXA1 | c.164T>G (p.Val55Gly) | |
| 7 | g.27095749A>G | CA367069391 | HOXA1 | c.164T>C (p.Val55Ala) | gnomAD v4 |
| 7 | g.27095749A>T | CA367069392 | HOXA1 | c.164T>A (p.Val55Glu) | |
| 7 | g.27095750C>A | CA367069394 | HOXA1 | c.163G>T (p.Val55Leu) | |
| 7 | g.27095750C= | CA1696187481 | HOXA1 | c.163G= (p.Val55=) | |
| 7 | g.27095750C>G | CA367069396 | HOXA1 | c.163G>C (p.Val55Leu) | |
| 7 | g.27095750C>T | CA367069397 | HOXA1 | c.163G>A (p.Val55Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.27095751T>A | CA454507860 | HOXA1 | c.162A>T (p.Leu54=) | |
| 7 | g.27095751T>C | CA454507862 | HOXA1 | c.162A>G (p.Leu54=) | |
| 7 | g.27095751T>G | CA454507859 | HOXA1 | c.162A>C (p.Leu54=) | |
| 7 | g.27095752A>C | CA367069399 | HOXA1 | c.161T>G (p.Leu54Arg) | |
| 7 | g.27095752A>G | CA367069401 | HOXA1 | c.161T>C (p.Leu54Pro) | |
| 7 | g.27095752A>T | CA367069403 | HOXA1 | c.161T>A (p.Leu54Gln) | |
| 7 | g.27095753G>A | CA454507870 | HOXA1 | c.160C>T (p.Leu54=) | |
| 7 | g.27095753G>C | CA367069404 | HOXA1 | c.160C>G (p.Leu54Val) | dbSNP |
| 7 | g.27095753G>T | CA367069405 | HOXA1 | c.160C>A (p.Leu54Ile) | |
| 7 | g.27095754G>A | CA454507874 | HOXA1 | c.159C>T (p.Phe53=) | gnomAD v4 |
| 7 | g.27095754G>C | CA367069409 | HOXA1 | c.159C>G (p.Phe53Leu) | |
| 7 | g.27095754G= | CA1696187483 | HOXA1 | c.159C= (p.Phe53=) | |
| 7 | g.27095754G>T | CA367069407 | HOXA1 | c.159C>A (p.Phe53Leu) | dbSNP |
| 7 | g.27095755A>C | CA367069411 | HOXA1 | c.158T>G (p.Phe53Cys) | |
| 7 | g.27095755A>G | CA367069412 | HOXA1 | c.158T>C (p.Phe53Ser) | |
| 7 | g.27095755A>T | CA367069414 | HOXA1 | c.158T>A (p.Phe53Tyr) | |
| 7 | g.27095756A>C | CA367069415 | HOXA1 | c.157T>G (p.Phe53Val) | |
| 7 | g.27095756A>G | CA367069417 | HOXA1 | c.157T>C (p.Phe53Leu) | |
| 7 | g.27095756A>T | CA367069419 | HOXA1 | c.157T>A (p.Phe53Ile) | |
| 7 | g.27095757G>A | CA454507884 | HOXA1 | c.156C>T (p.Arg52=) | |
| 7 | g.27095757G>C | CA454507885 | HOXA1 | c.156C>G (p.Arg52=) | |
| 7 | g.27095757G>T | CA454507886 | HOXA1 | c.156C>A (p.Arg52=) | gnomAD v4 |
| 7 | g.27095758C>A | CA367069423 | HOXA1 | c.155G>T (p.Arg52Leu) | |
| 7 | g.27095758C>G | CA367069420 | HOXA1 | c.155G>C (p.Arg52Pro) | |
| 7 | g.27095758C>T | CA367069422 | HOXA1 | c.155G>A (p.Arg52His) | gnomAD v4 |
| 7 | g.27095759G>A | CA367069425 | HOXA1 | c.154C>T (p.Arg52Cys) | COSMIC |
| 7 | g.27095759G>C | CA367069426 | HOXA1 | c.154C>G (p.Arg52Gly) | ClinVar |
| 7 | g.27095759G= | CA1696187487 | HOXA1 | c.154C= (p.Arg52=) | |
| 7 | g.27095759G>T | CA367069428 | HOXA1 | c.154C>A (p.Arg52Ser) | dbSNP gnomAD v4 |
| 7 | g.27095760G>A | CA454507896 | HOXA1 | c.153C>T (p.Asp51=) | |
| 7 | g.27095760G>C | CA367069429 | HOXA1 | c.153C>G (p.Asp51Glu) | |
| 7 | g.27095760G= | CA1696187492 | HOXA1 | c.153C= (p.Asp51=) | |
| 7 | g.27095760G>T | CA4196023 | HOXA1 | c.153C>A (p.Asp51Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095761T>A | CA367069431 | HOXA1 | c.152A>T (p.Asp51Val) | |
| 7 | g.27095761T>C | CA367069434 | HOXA1 | c.152A>G (p.Asp51Gly) | dbSNP |
| 7 | g.27095761T>G | CA367069432 | HOXA1 | c.152A>C (p.Asp51Ala) | |
| 7 | g.27095761T= | CA1696187497 | HOXA1 | c.152A= (p.Asp51=) | |
| 7 | g.27095762C>A | CA367069436 | HOXA1 | c.151G>T (p.Asp51Tyr) | gnomAD v4 |
| 7 | g.27095762C= | CA1696187501 | HOXA1 | c.151G= (p.Asp51=) | |
| 7 | g.27095762C>G | CA4196024 | HOXA1 | c.151G>C (p.Asp51His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095762C>T | CA367069438 | HOXA1 | c.151G>A (p.Asp51Asn) | |
| 7 | g.27095763G>A | CA454507913 | HOXA1 | c.150C>T (p.Asp50=) | gnomAD v4 |
| 7 | g.27095763G>C | CA367069439 | HOXA1 | c.150C>G (p.Asp50Glu) | |
| 7 | g.27095763G>T | CA367069440 | HOXA1 | c.150C>A (p.Asp50Glu) | |
| 7 | g.27095764T>A | CA367069441 | HOXA1 | c.149A>T (p.Asp50Val) | |
| 7 | g.27095764T>C | CA367069443 | HOXA1 | c.149A>G (p.Asp50Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095764T>G | CA367069444 | HOXA1 | c.149A>C (p.Asp50Ala) | |
| 7 | g.27095764T= | CA1696187506 | HOXA1 | c.149A= (p.Asp50=) | |
| 7 | g.27095765C>A | CA367069446 | HOXA1 | c.148G>T (p.Asp50Tyr) | |
| 7 | g.27095765C= | CA1696187510 | HOXA1 | c.148G= (p.Asp50=) | |
| 7 | g.27095765C>G | CA367069448 | HOXA1 | c.148G>C (p.Asp50His) | |
| 7 | g.27095765C>T | CA367069449 | HOXA1 | c.148G>A (p.Asp50Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095766G>A | CA454507926 | HOXA1 | c.147C>T (p.Gly49=) | COSMIC |
| 7 | g.27095766G>C | CA454507927 | HOXA1 | c.147C>G (p.Gly49=) | |
| 7 | g.27095766G>T | CA454507924 | HOXA1 | c.147C>A (p.Gly49=) | |
| 7 | g.27095767C>A | CA367069453 | HOXA1 | c.146G>T (p.Gly49Val) | COSMIC |
| 7 | g.27095767C>G | CA367069452 | HOXA1 | c.146G>C (p.Gly49Ala) | |
| 7 | g.27095767C>T | CA367069450 | HOXA1 | c.146G>A (p.Gly49Asp) | COSMIC |
| 7 | g.27095768C>A | CA367069455 | HOXA1 | c.145G>T (p.Gly49Cys) | |
| 7 | g.27095768C>G | CA367069457 | HOXA1 | c.145G>C (p.Gly49Arg) | |
| 7 | g.27095768C>T | CA367069458 | HOXA1 | c.145G>A (p.Gly49Ser) | |
| 7 | g.27095769G>A | CA454507939 | HOXA1 | c.144C>T (p.Gly48=) | gnomAD v4 |
| 7 | g.27095769G>C | CA454507936 | HOXA1 | c.144C>G (p.Gly48=) | |
| 7 | g.27095769G>T | CA454507937 | HOXA1 | c.144C>A (p.Gly48=) | gnomAD v4 |
| 7 | g.27095770C>A | CA367069460 | HOXA1 | c.143G>T (p.Gly48Val) | |
| 7 | g.27095770C= | CA1696187513 | HOXA1 | c.143G= (p.Gly48=) | |
| 7 | g.27095770C>G | CA367069461 | HOXA1 | c.143G>C (p.Gly48Ala) | |
| 7 | g.27095770C>T | CA4196025 | HOXA1 | c.143G>A (p.Gly48Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095771C>A | CA367069466 | HOXA1 | c.142G>T (p.Gly48Cys) | |
| 7 | g.27095771C= | CA1696187515 | HOXA1 | c.142G= (p.Gly48=) | |
| 7 | g.27095771C>G | CA367069464 | HOXA1 | c.142G>C (p.Gly48Arg) | |
| 7 | g.27095771C>T | CA4196026 | HOXA1 | c.142G>A (p.Gly48Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095772G>A | CA454507947 | HOXA1 | c.141C>T (p.Cys47=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095772G>C | CA367069467 | HOXA1 | c.141C>G (p.Cys47Trp) | dbSNP gnomAD v4 |
| 7 | g.27095772G= | CA1696187519 | HOXA1 | c.141C= (p.Cys47=) | |
| 7 | g.27095772G>T | CA367069469 | HOXA1 | c.141C>A (p.Cys47Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095773C>A | CA4196027 | HOXA1 | c.140G>T (p.Cys47Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095773C= | CA1696187522 | HOXA1 | c.140G= (p.Cys47=) | |
| 7 | g.27095773C>G | CA367069472 | HOXA1 | c.140G>C (p.Cys47Ser) | |
| 7 | g.27095773C>T | CA367069473 | HOXA1 | c.140G>A (p.Cys47Tyr) | |
| 7 | g.27095774A>C | CA367069476 | HOXA1 | c.139T>G (p.Cys47Gly) | |
| 7 | g.27095774A>G | CA367069474 | HOXA1 | c.139T>C (p.Cys47Arg) | |
| 7 | g.27095774A>T | CA367069475 | HOXA1 | c.139T>A (p.Cys47Ser) | |
| 7 | g.27095775A= | CA1696187526 | HOXA1 | c.138T= (p.Ser46=) | |
| 7 | g.27095775A>C | CA367069477 | HOXA1 | c.138T>G (p.Ser46Arg) | |
| 7 | g.27095775A>G | CA155901284 | HOXA1 | c.138T>C (p.Ser46=) | dbSNP gnomAD v4 |
| 7 | g.27095775A>T | CA367069478 | HOXA1 | c.138T>A (p.Ser46Arg) | |
| 7 | g.27095776C>A | CA367069479 | HOXA1 | c.137G>T (p.Ser46Ile) | dbSNP |
| 7 | g.27095776C>G | CA367069480 | HOXA1 | c.137G>C (p.Ser46Thr) | |
| 7 | g.27095776C>T | CA367069481 | HOXA1 | c.137G>A (p.Ser46Asn) | |
| 7 | g.27095777T>A | CA367069482 | HOXA1 | c.136A>T (p.Ser46Cys) | |
| 7 | g.27095777T>C | CA367069483 | HOXA1 | c.136A>G (p.Ser46Gly) | |
| 7 | g.27095777T>G | CA367069484 | HOXA1 | c.136A>C (p.Ser46Arg) | |
| 7 | g.27095778G>A | CA454507959 | HOXA1 | c.135C>T (p.Asn45=) | |
| 7 | g.27095778G>C | CA367069485 | HOXA1 | c.135C>G (p.Asn45Lys) | gnomAD v4 |
| 7 | g.27095778G= | CA1696187528 | HOXA1 | c.135C= (p.Asn45=) | |
| 7 | g.27095778G>T | CA367069486 | HOXA1 | c.135C>A (p.Asn45Lys) | dbSNP |
| 7 | g.27095779T>A | CA367069487 | HOXA1 | c.134A>T (p.Asn45Ile) | |
| 7 | g.27095779T>C | CA367069488 | HOXA1 | c.134A>G (p.Asn45Ser) | |
| 7 | g.27095779T>G | CA367069489 | HOXA1 | c.134A>C (p.Asn45Thr) | |
| 7 | g.27095780T>A | CA367069490 | HOXA1 | c.133A>T (p.Asn45Tyr) | |
| 7 | g.27095780T>C | CA367069492 | HOXA1 | c.133A>G (p.Asn45Asp) | |
| 7 | g.27095780T>G | CA367069491 | HOXA1 | c.133A>C (p.Asn45His) | |
| 7 | g.27095781G>A | CA454507965 | HOXA1 | c.132C>T (p.Ala44=) | |
| 7 | g.27095781G>C | CA454507966 | HOXA1 | c.132C>G (p.Ala44=) | |
| 7 | g.27095781G>T | CA454507967 | HOXA1 | c.132C>A (p.Ala44=) | |
| 7 | g.27095782G>A | CA367069493 | HOXA1 | c.131C>T (p.Ala44Val) | |
| 7 | g.27095782G>C | CA367069494 | HOXA1 | c.131C>G (p.Ala44Gly) | gnomAD v4 |
| 7 | g.27095782G>T | CA367069495 | HOXA1 | c.131C>A (p.Ala44Asp) | gnomAD v4 |
| 7 | g.27095783C>A | CA367069496 | HOXA1 | c.130G>T (p.Ala44Ser) | gnomAD v4 |
| 7 | g.27095783C= | CA1696187531 | HOXA1 | c.130G= (p.Ala44=) | |
| 7 | g.27095783C>G | CA367069497 | HOXA1 | c.130G>C (p.Ala44Pro) | |
| 7 | g.27095783C>T | CA367069498 | HOXA1 | c.130G>A (p.Ala44Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095784G>A | CA454507975 | HOXA1 | c.129C>T (p.Ser43=) | dbSNP gnomAD v4 |
| 7 | g.27095784G>C | CA367069499 | HOXA1 | c.129C>G (p.Ser43Arg) | |
| 7 | g.27095784G= | CA1696187533 | HOXA1 | c.129C= (p.Ser43=) | |
| 7 | g.27095784G>T | CA367069500 | HOXA1 | c.129C>A (p.Ser43Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.27095785C>A | CA367069501 | HOXA1 | c.128G>T (p.Ser43Ile) | |
| 7 | g.27095785C>G | CA367069502 | HOXA1 | c.128G>C (p.Ser43Thr) | |
| 7 | g.27095785C>T | CA367069503 | HOXA1 | c.128G>A (p.Ser43Asn) | gnomAD v4 |
| 7 | g.27095786T>A | CA367069506 | HOXA1 | c.127A>T (p.Ser43Cys) | |
| 7 | g.27095786T>C | CA367069505 | HOXA1 | c.127A>G (p.Ser43Gly) | |
| 7 | g.27095786T>G | CA367069504 | HOXA1 | c.127A>C (p.Ser43Arg) | |
| 7 | g.27095787G>A | CA454507983 | HOXA1 | c.126C>T (p.Val42=) | COSMIC |
| 7 | g.27095787G>C | CA454507986 | HOXA1 | c.126C>G (p.Val42=) | |
| 7 | g.27095787G>T | CA454507987 | HOXA1 | c.126C>A (p.Val42=) | |
| 7 | g.27095788A>C | CA367069507 | HOXA1 | c.125T>G (p.Val42Gly) | |
| 7 | g.27095788A>G | CA367069508 | HOXA1 | c.125T>C (p.Val42Ala) | |
| 7 | g.27095788A>T | CA367069510 | HOXA1 | c.125T>A (p.Val42Asp) | |
| 7 | g.27095789C>A | CA367069511 | HOXA1 | c.124G>T (p.Val42Phe) | |
| 7 | g.27095789C= | CA1696187536 | HOXA1 | c.124G= (p.Val42=) | |
| 7 | g.27095789C>G | CA367069512 | HOXA1 | c.124G>C (p.Val42Leu) | |
| 7 | g.27095789C>T | CA155901292 | HOXA1 | c.124G>A (p.Val42Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095790C>A | CA454507993 | HOXA1 | c.123G>T (p.Ala41=) | gnomAD v4 COSMIC |
| 7 | g.27095790C= | CA1696187539 | HOXA1 | c.123G= (p.Ala41=) | |
| 7 | g.27095790C>G | CA4196028 | HOXA1 | c.123G>C (p.Ala41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095790C>T | CA454507994 | HOXA1 | c.123G>A (p.Ala41=) | gnomAD v4 |
| 7 | g.27095791G>A | CA367069514 | HOXA1 | c.122C>T (p.Ala41Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.27095791G>C | CA367069516 | HOXA1 | c.122C>G (p.Ala41Gly) | |
| 7 | g.27095791G= | CA1696187543 | HOXA1 | c.122C= (p.Ala41=) | |
| 7 | g.27095791G>T | CA367069517 | HOXA1 | c.122C>A (p.Ala41Glu) | |
| 7 | g.27095792C>A | CA367069519 | HOXA1 | c.121G>T (p.Ala41Ser) | |
| 7 | g.27095792C>G | CA367069520 | HOXA1 | c.121G>C (p.Ala41Pro) | |
| 7 | g.27095792C>T | CA367069521 | HOXA1 | c.121G>A (p.Ala41Thr) | gnomAD v4 COSMIC |
| 7 | g.27095793G>A | CA454150705 | HOXA1 | c.120C>T (p.Cys40=) | |
| 7 | g.27095793G>C | CA4196029 | HOXA1 | c.120C>G (p.Cys40Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095793G= | CA1696187545 | HOXA1 | c.120C= (p.Cys40=) | |
| 7 | g.27095793G>T | CA367069970 | HOXA1 | c.120C>A (p.Cys40Ter) | |
| 7 | g.27095794del | CA2774814830 | HOXA1 | c.119del (p.Cys40SerfsTer15) | |
| 7 | g.27095794C>A | CA367069973 | HOXA1 | c.119G>T (p.Cys40Phe) | |
| 7 | g.27095794C>G | CA367069979 | HOXA1 | c.119G>C (p.Cys40Ser) | |
| 7 | g.27095794C>T | CA367069977 | HOXA1 | c.119G>A (p.Cys40Tyr) | |
| 7 | g.27095795A>C | CA367069982 | HOXA1 | c.118T>G (p.Cys40Gly) | |
| 7 | g.27095795A>G | CA367069985 | HOXA1 | c.118T>C (p.Cys40Arg) | |
| 7 | g.27095795A>T | CA367069987 | HOXA1 | c.118T>A (p.Cys40Ser) | |
| 7 | g.27095796C>A | CA4196030 | HOXA1 | c.117G>T (p.Ser39=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095796C= | CA1696187548 | HOXA1 | c.117G= (p.Ser39=) | |
| 7 | g.27095796C>G | CA454150706 | HOXA1 | c.117G>C (p.Ser39=) | dbSNP |
| 7 | g.27095796C>T | CA454150707 | HOXA1 | c.117G>A (p.Ser39=) | |
| 7 | g.27095797G>A | CA367069993 | HOXA1 | c.116C>T (p.Ser39Leu) | |
| 7 | g.27095797G>C | CA367069996 | HOXA1 | c.116C>G (p.Ser39Trp) | |
| 7 | g.27095797G= | CA1696187552 | HOXA1 | c.116C= (p.Ser39=) | |
| 7 | g.27095797G>T | CA367069999 | HOXA1 | c.116C>A (p.Ser39Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.27095798A>C | CA367070006 | HOXA1 | c.115T>G (p.Ser39Ala) | gnomAD v4 |
| 7 | g.27095798A>G | CA367070001 | HOXA1 | c.115T>C (p.Ser39Pro) | |
| 7 | g.27095798A>T | CA367070003 | HOXA1 | c.115T>A (p.Ser39Thr) | |
| 7 | g.27095799C>A | CA367070008 | HOXA1 | c.114G>T (p.Gln38His) | |
| 7 | g.27095799C>G | CA367070010 | HOXA1 | c.114G>C (p.Gln38His) | |
| 7 | g.27095799C>T | CA454150709 | HOXA1 | c.114G>A (p.Gln38=) | |
| 7 | g.27095800T>A | CA367070012 | HOXA1 | c.113A>T (p.Gln38Leu) | |
| 7 | g.27095800T>C | CA367070015 | HOXA1 | c.113A>G (p.Gln38Arg) | gnomAD v4 |
| 7 | g.27095800T>G | CA367070017 | HOXA1 | c.113A>C (p.Gln38Pro) | |
| 7 | g.27095801G>A | CA367070020 | HOXA1 | c.112C>T (p.Gln38Ter) | gnomAD v4 COSMIC |
| 7 | g.27095801G>C | CA367070026 | HOXA1 | c.112C>G (p.Gln38Glu) | |
| 7 | g.27095801G>T | CA367070023 | HOXA1 | c.112C>A (p.Gln38Lys) | |
| 7 | g.27095802G>A | CA454150710 | HOXA1 | c.111C>T (p.Phe37=) | |
| 7 | g.27095802G>C | CA367070029 | HOXA1 | c.111C>G (p.Phe37Leu) | |
| 7 | g.27095802G= | CA1696187556 | HOXA1 | c.111C= (p.Phe37=) | |
| 7 | g.27095802G>T | CA367070030 | HOXA1 | c.111C>A (p.Phe37Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095803A= | CA1696187560 | HOXA1 | c.110T= (p.Phe37=) | |
| 7 | g.27095803A>C | CA367070033 | HOXA1 | c.110T>G (p.Phe37Cys) | dbSNP gnomAD v4 |
| 7 | g.27095803A>G | CA367070034 | HOXA1 | c.110T>C (p.Phe37Ser) | gnomAD v4 |
| 7 | g.27095803A>T | CA367070036 | HOXA1 | c.110T>A (p.Phe37Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095804A>C | CA367070039 | HOXA1 | c.109T>G (p.Phe37Val) | |
| 7 | g.27095804A>G | CA367070041 | HOXA1 | c.109T>C (p.Phe37Leu) | |
| 7 | g.27095804A>T | CA367070043 | HOXA1 | c.109T>A (p.Phe37Ile) | |
| 7 | g.27095805A>C | CA454150711 | HOXA1 | c.108T>G (p.Thr36=) | |
| 7 | g.27095805A>G | CA454150712 | HOXA1 | c.108T>C (p.Thr36=) | |
| 7 | g.27095805A>T | CA454150713 | HOXA1 | c.108T>A (p.Thr36=) | |
| 7 | g.27095806G>A | CA367070046 | HOXA1 | c.107C>T (p.Thr36Ile) | |
| 7 | g.27095806G>C | CA367070048 | HOXA1 | c.107C>G (p.Thr36Ser) | |
| 7 | g.27095806G>T | CA367070051 | HOXA1 | c.107C>A (p.Thr36Asn) | |
| 7 | g.27095807T>A | CA367070054 | HOXA1 | c.106A>T (p.Thr36Ser) | |
| 7 | g.27095807T>C | CA367070057 | HOXA1 | c.106A>G (p.Thr36Ala) | gnomAD v4 |
| 7 | g.27095807T>G | CA367070055 | HOXA1 | c.106A>C (p.Thr36Pro) | |
| 7 | g.27095808T>A | CA454150714 | HOXA1 | c.105A>T (p.Thr35=) | |
| 7 | g.27095808T>C | CA454150715 | HOXA1 | c.105A>G (p.Thr35=) | |
| 7 | g.27095808T>G | CA454150716 | HOXA1 | c.105A>C (p.Thr35=) | |
| 7 | g.27095809G>A | CA367070060 | HOXA1 | c.104C>T (p.Thr35Ile) | |
| 7 | g.27095809G>C | CA367070062 | HOXA1 | c.104C>G (p.Thr35Arg) | |
| 7 | g.27095809G= | CA1696187562 | HOXA1 | c.104C= (p.Thr35=) | |
| 7 | g.27095809G>T | CA367070065 | HOXA1 | c.104C>A (p.Thr35Lys) | dbSNP gnomAD v4 |
| 7 | g.27095810T>A | CA367070076 | HOXA1 | c.103A>T (p.Thr35Ser) | |
| 7 | g.27095810T>C | CA367070079 | HOXA1 | c.103A>G (p.Thr35Ala) | |
| 7 | g.27095810T>G | CA367070081 | HOXA1 | c.103A>C (p.Thr35Pro) | |
| 7 | g.27095811A>C | CA367070085 | HOXA1 | c.102T>G (p.Ile34Met) | |
| 7 | g.27095811A>G | CA454150717 | HOXA1 | c.102T>C (p.Ile34=) | |
| 7 | g.27095811A>T | CA454150718 | HOXA1 | c.102T>A (p.Ile34=) | |
| 7 | g.27095812A>C | CA367070089 | HOXA1 | c.101T>G (p.Ile34Ser) | |
| 7 | g.27095812A>G | CA367070090 | HOXA1 | c.101T>C (p.Ile34Thr) | |
| 7 | g.27095812A>T | CA367070091 | HOXA1 | c.101T>A (p.Ile34Asn) | |
| 7 | g.27095813T>A | CA367070092 | HOXA1 | c.100A>T (p.Ile34Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095813T>C | CA367070094 | HOXA1 | c.100A>G (p.Ile34Val) | |
| 7 | g.27095813T>G | CA367070097 | HOXA1 | c.100A>C (p.Ile34Leu) | |
| 7 | g.27095813T= | CA1696187565 | HOXA1 | c.100A= (p.Ile34=) | |
| 7 | g.27095814C>A | CA367070100 | HOXA1 | c.99G>T (p.Arg33Ser) | |
| 7 | g.27095814C= | CA1696187567 | HOXA1 | c.99G= (p.Arg33=) | |
| 7 | g.27095814C>G | CA367070104 | HOXA1 | c.99G>C (p.Arg33Ser) | |
| 7 | g.27095814C>T | CA4196031 | HOXA1 | c.99G>A (p.Arg33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095815C>A | CA367070108 | HOXA1 | c.98G>T (p.Arg33Met) | gnomAD v4 |
| 7 | g.27095815C>G | CA367070113 | HOXA1 | c.98G>C (p.Arg33Thr) | gnomAD v4 |
| 7 | g.27095815C>T | CA367070114 | HOXA1 | c.98G>A (p.Arg33Lys) | |
| 7 | g.27095816T>A | CA367070115 | HOXA1 | c.97A>T (p.Arg33Trp) | |
| 7 | g.27095816T>C | CA367070116 | HOXA1 | c.97A>G (p.Arg33Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095816T>G | CA454150719 | HOXA1 | c.97A>C (p.Arg33=) | |
| 7 | g.27095816T= | CA1696187568 | HOXA1 | c.97A= (p.Arg33=) | |
| 7 | g.27095817A>C | CA367070117 | HOXA1 | c.96T>G (p.His32Gln) | |
| 7 | g.27095817A>G | CA454150720 | HOXA1 | c.96T>C (p.His32=) | |
| 7 | g.27095817A>T | CA367070118 | HOXA1 | c.96T>A (p.His32Gln) | |
| 7 | g.27095818T>A | CA367070119 | HOXA1 | c.95A>T (p.His32Leu) | |
| 7 | g.27095818T>C | CA4196032 | HOXA1 | c.95A>G (p.His32Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095818T>G | CA367070122 | HOXA1 | c.95A>C (p.His32Pro) | |
| 7 | g.27095818T= | CA1696187569 | HOXA1 | c.95A= (p.His32=) | |
| 7 | g.27095819G>A | CA367070128 | HOXA1 | c.94C>T (p.His32Tyr) | |
| 7 | g.27095819G>C | CA367070126 | HOXA1 | c.94C>G (p.His32Asp) | |
| 7 | g.27095819G= | CA1696187570 | HOXA1 | c.94C= (p.His32=) | |
| 7 | g.27095819G>T | CA367070124 | HOXA1 | c.94C>A (p.His32Asn) | dbSNP |
| 7 | g.27095820G>A | CA454150721 | HOXA1 | c.93C>T (p.Asp31=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095820G>C | CA367070131 | HOXA1 | c.93C>G (p.Asp31Glu) | |
| 7 | g.27095820G= | CA1696187571 | HOXA1 | c.93C= (p.Asp31=) | |
| 7 | g.27095820G>T | CA367070134 | HOXA1 | c.93C>A (p.Asp31Glu) | dbSNP |
| 7 | g.27095821T>A | CA367070136 | HOXA1 | c.92A>T (p.Asp31Val) | |
| 7 | g.27095821T>C | CA367070137 | HOXA1 | c.92A>G (p.Asp31Gly) | |
| 7 | g.27095821T>G | CA367070140 | HOXA1 | c.92A>C (p.Asp31Ala) | |
| 7 | g.27095822C>A | CA367070143 | HOXA1 | c.91G>T (p.Asp31Tyr) | |
| 7 | g.27095822C= | CA1696187572 | HOXA1 | c.91G= (p.Asp31=) | |
| 7 | g.27095822C>G | CA367070144 | HOXA1 | c.91G>C (p.Asp31His) | |
| 7 | g.27095822C>T | CA4196033 | HOXA1 | c.91G>A (p.Asp31Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.27095823C>A | CA454150724 | HOXA1 | c.90G>T (p.Ser30=) | |
| 7 | g.27095823C= | CA1696187573 | HOXA1 | c.90G= (p.Ser30=) | |
| 7 | g.27095823C>G | CA454150722 | HOXA1 | c.90G>C (p.Ser30=) | dbSNP gnomAD v4 |
| 7 | g.27095823C>T | CA454150723 | HOXA1 | c.90G>A (p.Ser30=) | |
| 7 | g.27095824G>A | CA367070149 | HOXA1 | c.89C>T (p.Ser30Leu) | dbSNP gnomAD v4 |
| 7 | g.27095824G>C | CA367070153 | HOXA1 | c.89C>G (p.Ser30Trp) | |
| 7 | g.27095824G>T | CA367070150 | HOXA1 | c.89C>A (p.Ser30Ter) | |
| 7 | g.27095825A= | CA1696187574 | HOXA1 | c.88T= (p.Ser30=) | |
| 7 | g.27095825A>C | CA4196034 | HOXA1 | c.88T>G (p.Ser30Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095825A>G | CA367070154 | HOXA1 | c.88T>C (p.Ser30Pro) | |
| 7 | g.27095825A>T | CA367070155 | HOXA1 | c.88T>A (p.Ser30Thr) | |
| 7 | g.27095825_27095826insT | CA645563275 | HOXA1 | c.87_88insA (p.Ser30IlefsTer4) | COSMIC |
| 7 | g.27095826G>A | CA454150725 | HOXA1 | c.87C>T (p.Pro29=) | |
| 7 | g.27095826G>C | CA4196035 | HOXA1 | c.87C>G (p.Pro29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.27095826G= | CA1696187575 | HOXA1 | c.87C= (p.Pro29=) | |
| 7 | g.27095826G>T | CA454150726 | HOXA1 | c.87C>A (p.Pro29=) | |
| 7 | g.27095829dup | CA837187737 | HOXA1 | c.87dup (p.Ser30LeufsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.27095826_27095827insA | CA454150727 | HOXA1 | c.86_87insT (p.Ser30LeufsTer4) | |
| 7 | g.27095827G>A | CA367070156 | HOXA1 | c.86C>T (p.Pro29Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.27095827G>C | CA367070158 | HOXA1 | c.86C>G (p.Pro29Arg) | |
| 7 | g.27095827G= | CA1696187576 | HOXA1 | c.86C= (p.Pro29=) | |
| 7 | g.27095827G>T | CA367070157 | HOXA1 | c.86C>A (p.Pro29His) | |
| 7 | g.27095828G>A | CA367070159 | HOXA1 | c.85C>T (p.Pro29Ser) | |
| 7 | g.27095828G>C | CA367070161 | HOXA1 | c.85C>G (p.Pro29Ala) | |
| 7 | g.27095828G= | CA1696187577 | HOXA1 | c.85C= (p.Pro29=) | |
| 7 | g.27095828G>T | CA4196036 | HOXA1 | c.85C>A (p.Pro29Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.27095829G>A | CA454150728 | HOXA1 | c.84C>T (p.Tyr28=) | dbSNP gnomAD v4 |
| 7 | g.27095829G>C | CA124437 | HOXA1 | c.84C>G (p.Tyr28Ter) | ClinVar dbSNP |
| 7 | g.27095829G= | CA1696187578 | HOXA1 | c.84C= (p.Tyr28=) | |
| 7 | g.27095829G>T | CA367070163 | HOXA1 | c.84C>A (p.Tyr28Ter) | |
| 7 | g.27095830T>A | CA367070165 | HOXA1 | c.83A>T (p.Tyr28Phe) | gnomAD v4 |
| 7 | g.27095830T>C | CA367070167 | HOXA1 | c.83A>G (p.Tyr28Cys) | |
| 7 | g.27095830T>G | CA367070168 | HOXA1 | c.83A>C (p.Tyr28Ser) |