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 |
|---|---|---|---|---|---|
| 17 | g.17798035T>A | CA398558299 | RAI1 | c.5087T>A (p.Phe1696Tyr) c.4751T>A (p.Phe1584Tyr) | |
| 17 | g.17798035T>C | CA398558300 | RAI1 | c.5087T>C (p.Phe1696Ser) c.4751T>C (p.Phe1584Ser) | dbSNP gnomAD v4 |
| 17 | g.17798035T>G | CA398558301 | RAI1 | c.5087T>G (p.Phe1696Cys) c.4751T>G (p.Phe1584Cys) | |
| 17 | g.17798035T= | CA2250696481 | RAI1 | c.5087T= (p.Phe1696=) c.4751T= (p.Phe1584=) | |
| 17 | g.17798036C>A | CA398558302 | RAI1 | c.5088C>A (p.Phe1696Leu) c.4752C>A (p.Phe1584Leu) | gnomAD v4 |
| 17 | g.17798036C= | CA2250696484 | RAI1 | c.5088C= (p.Phe1696=) c.4752C= (p.Phe1584=) | |
| 17 | g.17798036C>G | CA398558303 | RAI1 | c.5088C>G (p.Phe1696Leu) c.4752C>G (p.Phe1584Leu) | |
| 17 | g.17798036C>T | CA498425529 | RAI1 | c.5088C>T (p.Phe1696=) c.4752C>T (p.Phe1584=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798037A>C | CA398558304 | RAI1 | c.5089A>C (p.Lys1697Gln) c.4753A>C (p.Lys1585Gln) | |
| 17 | g.17798037A>G | CA398558306 | RAI1 | c.5089A>G (p.Lys1697Glu) c.4753A>G (p.Lys1585Glu) | |
| 17 | g.17798037A>T | CA398558305 | RAI1 | c.5089A>T (p.Lys1697Ter) c.4753A>T (p.Lys1585Ter) | |
| 17 | g.17798038A= | CA2250696491 | RAI1 | c.5090A= (p.Lys1697=) c.4754A= (p.Lys1585=) | |
| 17 | g.17798038A>C | CA398558307 | RAI1 | c.5090A>C (p.Lys1697Thr) c.4754A>C (p.Lys1585Thr) | |
| 17 | g.17798038A>G | CA398558308 | RAI1 | c.5090A>G (p.Lys1697Arg) c.4754A>G (p.Lys1585Arg) | dbSNP |
| 17 | g.17798038A>T | CA398558309 | RAI1 | c.5090A>T (p.Lys1697Met) c.4754A>T (p.Lys1585Met) | |
| 17 | g.17798039G>A | CA498425534 | RAI1 | c.5091G>A (p.Lys1697=) c.4755G>A (p.Lys1585=) | |
| 17 | g.17798039G>C | CA398558310 | RAI1 | c.5091G>C (p.Lys1697Asn) c.4755G>C (p.Lys1585Asn) | |
| 17 | g.17798039G>T | CA398558311 | RAI1 | c.5091G>T (p.Lys1697Asn) c.4755G>T (p.Lys1585Asn) | |
| 17 | g.17798040G>A | CA398558312 | RAI1 | c.5092G>A (p.Asp1698Asn) c.4756G>A (p.Asp1586Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798040G>C | CA398558313 | RAI1 | c.5092G>C (p.Asp1698His) c.4756G>C (p.Asp1586His) | |
| 17 | g.17798040G= | CA2250696496 | RAI1 | c.5092G= (p.Asp1698=) c.4756G= (p.Asp1586=) | |
| 17 | g.17798040G>T | CA398558315 | RAI1 | c.5092G>T (p.Asp1698Tyr) c.4756G>T (p.Asp1586Tyr) | |
| 17 | g.17798041A>C | CA398558317 | RAI1 | c.5093A>C (p.Asp1698Ala) c.4757A>C (p.Asp1586Ala) | |
| 17 | g.17798041A>G | CA398558318 | RAI1 | c.5093A>G (p.Asp1698Gly) c.4757A>G (p.Asp1586Gly) | |
| 17 | g.17798041A>T | CA398558319 | RAI1 | c.5093A>T (p.Asp1698Val) c.4757A>T (p.Asp1586Val) | |
| 17 | g.17798042C>A | CA398558321 | RAI1 | c.5094C>A (p.Asp1698Glu) c.4758C>A (p.Asp1586Glu) | gnomAD v4 |
| 17 | g.17798042C>G | CA398558320 | RAI1 | c.5094C>G (p.Asp1698Glu) c.4758C>G (p.Asp1586Glu) | |
| 17 | g.17798042C>T | CA498425538 | RAI1 | c.5094C>T (p.Asp1698=) c.4758C>T (p.Asp1586=) | gnomAD v4 |
| 17 | g.17798043C>A | CA398558322 | RAI1 | c.5095C>A (p.Leu1699Ile) c.4759C>A (p.Leu1587Ile) | |
| 17 | g.17798043C= | CA2250696499 | RAI1 | c.5095C= (p.Leu1699=) c.4759C= (p.Leu1587=) | |
| 17 | g.17798043C>G | CA398558324 | RAI1 | c.5095C>G (p.Leu1699Val) c.4759C>G (p.Leu1587Val) | |
| 17 | g.17798043C>T | CA398558323 | RAI1 | c.5095C>T (p.Leu1699Phe) c.4759C>T (p.Leu1587Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798044T>A | CA398558325 | RAI1 | c.5096T>A (p.Leu1699His) c.4760T>A (p.Leu1587His) | |
| 17 | g.17798044T>C | CA398558326 | RAI1 | c.5096T>C (p.Leu1699Pro) c.4760T>C (p.Leu1587Pro) | |
| 17 | g.17798044T>G | CA398558327 | RAI1 | c.5096T>G (p.Leu1699Arg) c.4760T>G (p.Leu1587Arg) | |
| 17 | g.17798045T>A | CA498425540 | RAI1 | c.5097T>A (p.Leu1699=) c.4761T>A (p.Leu1587=) | |
| 17 | g.17798045T>C | CA498425542 | RAI1 | c.5097T>C (p.Leu1699=) c.4761T>C (p.Leu1587=) | dbSNP |
| 17 | g.17798045T>G | CA498425541 | RAI1 | c.5097T>G (p.Leu1699=) c.4761T>G (p.Leu1587=) | |
| 17 | g.17798045T= | CA2250696501 | RAI1 | c.5097T= (p.Leu1699=) c.4761T= (p.Leu1587=) | |
| 17 | g.17798046G>A | CA398558328 | RAI1 | c.5098G>A (p.Gly1700Arg) c.4762G>A (p.Gly1588Arg) | |
| 17 | g.17798046G>C | CA398558329 | RAI1 | c.5098G>C (p.Gly1700Arg) c.4762G>C (p.Gly1588Arg) | |
| 17 | g.17798046G>T | CA398558330 | RAI1 | c.5098G>T (p.Gly1700Trp) c.4762G>T (p.Gly1588Trp) | |
| 17 | g.17798047G>A | CA398558331 | RAI1 | c.5099G>A (p.Gly1700Glu) c.4763G>A (p.Gly1588Glu) | |
| 17 | g.17798047G>C | CA398558332 | RAI1 | c.5099G>C (p.Gly1700Ala) c.4763G>C (p.Gly1588Ala) | |
| 17 | g.17798047G>T | CA398558333 | RAI1 | c.5099G>T (p.Gly1700Val) c.4763G>T (p.Gly1588Val) | |
| 17 | g.17798048G>A | CA498425547 | RAI1 | c.5100G>A (p.Gly1700=) c.4764G>A (p.Gly1588=) | |
| 17 | g.17798048G>C | CA498425549 | RAI1 | c.5100G>C (p.Gly1700=) c.4764G>C (p.Gly1588=) | gnomAD v4 |
| 17 | g.17798048G>T | CA498425551 | RAI1 | c.5100G>T (p.Gly1700=) c.4764G>T (p.Gly1588=) | |
| 17 | g.17798049G>A | CA398558334 | RAI1 | c.5101G>A (p.Asp1701Asn) c.4765G>A (p.Asp1589Asn) | |
| 17 | g.17798049G>C | CA398558335 | RAI1 | c.5101G>C (p.Asp1701His) c.4765G>C (p.Asp1589His) | |
| 17 | g.17798049G>T | CA398558336 | RAI1 | c.5101G>T (p.Asp1701Tyr) c.4765G>T (p.Asp1589Tyr) | |
| 17 | g.17798050A>C | CA398558339 | RAI1 | c.5102A>C (p.Asp1701Ala) c.4766A>C (p.Asp1589Ala) | |
| 17 | g.17798050A>G | CA398558337 | RAI1 | c.5102A>G (p.Asp1701Gly) c.4766A>G (p.Asp1589Gly) | |
| 17 | g.17798050A>T | CA398558338 | RAI1 | c.5102A>T (p.Asp1701Val) c.4766A>T (p.Asp1589Val) | |
| 17 | g.17798051C>A | CA398558340 | RAI1 | c.5103C>A (p.Asp1701Glu) c.4767C>A (p.Asp1589Glu) | |
| 17 | g.17798051C>G | CA398558341 | RAI1 | c.5103C>G (p.Asp1701Glu) c.4767C>G (p.Asp1589Glu) | |
| 17 | g.17798051C>T | CA498425553 | RAI1 | c.5103C>T (p.Asp1701=) c.4767C>T (p.Asp1589=) | |
| 17 | g.17798052C>A | CA398558342 | RAI1 | c.5104C>A (p.Leu1702Ile) c.4768C>A (p.Leu1590Ile) | |
| 17 | g.17798052C>G | CA398558343 | RAI1 | c.5104C>G (p.Leu1702Val) c.4768C>G (p.Leu1590Val) | |
| 17 | g.17798052C>T | CA398558344 | RAI1 | c.5104C>T (p.Leu1702Phe) c.4768C>T (p.Leu1590Phe) | |
| 17 | g.17798053T>A | CA398558345 | RAI1 | c.5105T>A (p.Leu1702His) c.4769T>A (p.Leu1590His) | |
| 17 | g.17798053T>C | CA398558346 | RAI1 | c.5105T>C (p.Leu1702Pro) c.4769T>C (p.Leu1590Pro) | |
| 17 | g.17798053T>G | CA398558347 | RAI1 | c.5105T>G (p.Leu1702Arg) c.4769T>G (p.Leu1590Arg) | |
| 17 | g.17798054C>A | CA498425554 | RAI1 | c.5106C>A (p.Leu1702=) c.4770C>A (p.Leu1590=) | |
| 17 | g.17798054C= | CA2250696504 | RAI1 | c.5106C= (p.Leu1702=) c.4770C= (p.Leu1590=) | |
| 17 | g.17798054C>G | CA498425555 | RAI1 | c.5106C>G (p.Leu1702=) c.4770C>G (p.Leu1590=) | |
| 17 | g.17798054C>T | CA498425557 | RAI1 | c.5106C>T (p.Leu1702=) c.4770C>T (p.Leu1590=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.17798055T>A | CA398558348 | RAI1 | c.5107T>A (p.Cys1703Ser) c.4771T>A (p.Cys1591Ser) | |
| 17 | g.17798055T>C | CA398558349 | RAI1 | c.5107T>C (p.Cys1703Arg) c.4771T>C (p.Cys1591Arg) | |
| 17 | g.17798055T>G | CA398558350 | RAI1 | c.5107T>G (p.Cys1703Gly) c.4771T>G (p.Cys1591Gly) | |
| 17 | g.17798056G>A | CA398558352 | RAI1 | c.5108G>A (p.Cys1703Tyr) c.4772G>A (p.Cys1591Tyr) | gnomAD v4 |
| 17 | g.17798056G>C | CA398558353 | RAI1 | c.5108G>C (p.Cys1703Ser) c.4772G>C (p.Cys1591Ser) | |
| 17 | g.17798056G>T | CA398558351 | RAI1 | c.5108G>T (p.Cys1703Phe) c.4772G>T (p.Cys1591Phe) | |
| 17 | g.17798057T>A | CA398558354 | RAI1 | c.5109T>A (p.Cys1703Ter) c.4773T>A (p.Cys1591Ter) | |
| 17 | g.17798057T>C | CA498425559 | RAI1 | c.5109T>C (p.Cys1703=) c.4773T>C (p.Cys1591=) | gnomAD v4 |
| 17 | g.17798057T>G | CA398558355 | RAI1 | c.5109T>G (p.Cys1703Trp) c.4773T>G (p.Cys1591Trp) | |
| 17 | g.17798058_17798064del | CA2697559440 | RAI1 | c.5110_5116del (p.Gly1704ThrfsTer?) c.4774_4780del (p.Gly1592ThrfsTer?) | ClinVar |
| 17 | g.17798058G>A | CA398558356 | RAI1 | c.5110G>A (p.Gly1704Arg) c.4774G>A (p.Gly1592Arg) | |
| 17 | g.17798058G>C | CA398558357 | RAI1 | c.5110G>C (p.Gly1704Arg) c.4774G>C (p.Gly1592Arg) | |
| 17 | g.17798058G>T | CA398558358 | RAI1 | c.5110G>T (p.Gly1704Trp) c.4774G>T (p.Gly1592Trp) | |
| 17 | g.17798059G>A | CA398558361 | RAI1 | c.5111G>A (p.Gly1704Glu) c.4775G>A (p.Gly1592Glu) | |
| 17 | g.17798059G>C | CA398558360 | RAI1 | c.5111G>C (p.Gly1704Ala) c.4775G>C (p.Gly1592Ala) | |
| 17 | g.17798059G>T | CA398558359 | RAI1 | c.5111G>T (p.Gly1704Val) c.4775G>T (p.Gly1592Val) | |
| 17 | g.17798060G>A | CA498425561 | RAI1 | c.5112G>A (p.Gly1704=) c.4776G>A (p.Gly1592=) | |
| 17 | g.17798060G>C | CA498425562 | RAI1 | c.5112G>C (p.Gly1704=) c.4776G>C (p.Gly1592=) | |
| 17 | g.17798060G>T | CA498425563 | RAI1 | c.5112G>T (p.Gly1704=) c.4776G>T (p.Gly1592=) | |
| 17 | g.17798061C>A | CA398558362 | RAI1 | c.5113C>A (p.Pro1705Thr) c.4777C>A (p.Pro1593Thr) | |
| 17 | g.17798061C>G | CA398558363 | RAI1 | c.5113C>G (p.Pro1705Ala) c.4777C>G (p.Pro1593Ala) | |
| 17 | g.17798061C>T | CA398558364 | RAI1 | c.5113C>T (p.Pro1705Ser) c.4777C>T (p.Pro1593Ser) | |
| 17 | g.17798062C>A | CA398558365 | RAI1 | c.5114C>A (p.Pro1705His) c.4778C>A (p.Pro1593His) | |
| 17 | g.17798062C>G | CA398558366 | RAI1 | c.5114C>G (p.Pro1705Arg) c.4778C>G (p.Pro1593Arg) | |
| 17 | g.17798062C>T | CA398558367 | RAI1 | c.5114C>T (p.Pro1705Leu) c.4778C>T (p.Pro1593Leu) | ClinVar |
| 17 | g.17798063C>A | CA498425566 | RAI1 | c.5115C>A (p.Pro1705=) c.4779C>A (p.Pro1593=) | |
| 17 | g.17798063C>G | CA498425567 | RAI1 | c.5115C>G (p.Pro1705=) c.4779C>G (p.Pro1593=) | |
| 17 | g.17798063C>T | CA498425568 | RAI1 | c.5115C>T (p.Pro1705=) c.4779C>T (p.Pro1593=) | |
| 17 | g.17798064T>A | CA398558368 | RAI1 | c.5116T>A (p.Tyr1706Asn) c.4780T>A (p.Tyr1594Asn) | |
| 17 | g.17798064T>C | CA398558370 | RAI1 | c.5116T>C (p.Tyr1706His) c.4780T>C (p.Tyr1594His) | |
| 17 | g.17798064T>G | CA398558369 | RAI1 | c.5116T>G (p.Tyr1706Asp) c.4780T>G (p.Tyr1594Asp) | |
| 17 | g.17798065A>C | CA398558371 | RAI1 | c.5117A>C (p.Tyr1706Ser) c.4781A>C (p.Tyr1594Ser) | |
| 17 | g.17798065A>G | CA398558372 | RAI1 | c.5117A>G (p.Tyr1706Cys) c.4781A>G (p.Tyr1594Cys) | |
| 17 | g.17798065A>T | CA398558373 | RAI1 | c.5117A>T (p.Tyr1706Phe) c.4781A>T (p.Tyr1594Phe) | |
| 17 | g.17798066C>A | CA398558374 | RAI1 | c.5118C>A (p.Tyr1706Ter) c.4782C>A (p.Tyr1594Ter) | |
| 17 | g.17798066C>G | CA398558375 | RAI1 | c.5118C>G (p.Tyr1706Ter) c.4782C>G (p.Tyr1594Ter) | |
| 17 | g.17798066C>T | CA498425571 | RAI1 | c.5118C>T (p.Tyr1706=) c.4782C>T (p.Tyr1594=) | |
| 17 | g.17798067T>A | CA398558376 | RAI1 | c.5119T>A (p.Tyr1707Asn) c.4783T>A (p.Tyr1595Asn) | |
| 17 | g.17798067T>C | CA398558377 | RAI1 | c.5119T>C (p.Tyr1707His) c.4783T>C (p.Tyr1595His) | |
| 17 | g.17798067T>G | CA398558378 | RAI1 | c.5119T>G (p.Tyr1707Asp) c.4783T>G (p.Tyr1595Asp) | |
| 17 | g.17798068A= | CA2250696512 | RAI1 | c.5120A= (p.Tyr1707=) c.4784A= (p.Tyr1595=) | |
| 17 | g.17798068A>C | CA398558379 | RAI1 | c.5120A>C (p.Tyr1707Ser) c.4784A>C (p.Tyr1595Ser) | dbSNP |
| 17 | g.17798068A>G | CA398558380 | RAI1 | c.5120A>G (p.Tyr1707Cys) c.4784A>G (p.Tyr1595Cys) | dbSNP |
| 17 | g.17798068A>T | CA398558381 | RAI1 | c.5120A>T (p.Tyr1707Phe) c.4784A>T (p.Tyr1595Phe) | gnomAD v4 |
| 17 | g.17798069C>A | CA398558382 | RAI1 | c.5121C>A (p.Tyr1707Ter) c.4785C>A (p.Tyr1595Ter) | |
| 17 | g.17798069C>G | CA398558383 | RAI1 | c.5121C>G (p.Tyr1707Ter) c.4785C>G (p.Tyr1595Ter) | |
| 17 | g.17798069C>T | CA498425577 | RAI1 | c.5121C>T (p.Tyr1707=) c.4785C>T (p.Tyr1595=) | gnomAD v4 |
| 17 | g.17798070C>A | CA398558385 | RAI1 | c.5122C>A (p.Pro1708Thr) c.4786C>A (p.Pro1596Thr) | gnomAD v4 |
| 17 | g.17798070C>G | CA398558386 | RAI1 | c.5122C>G (p.Pro1708Ala) c.4786C>G (p.Pro1596Ala) | |
| 17 | g.17798070C>T | CA398558384 | RAI1 | c.5122C>T (p.Pro1708Ser) c.4786C>T (p.Pro1596Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.17798071C>A | CA398558388 | RAI1 | c.5123C>A (p.Pro1708His) c.4787C>A (p.Pro1596His) | |
| 17 | g.17798071C>G | CA398558387 | RAI1 | c.5123C>G (p.Pro1708Arg) c.4787C>G (p.Pro1596Arg) | gnomAD v4 |
| 17 | g.17798071C>T | CA398558389 | RAI1 | c.5123C>T (p.Pro1708Leu) c.4787C>T (p.Pro1596Leu) | dbSNP gnomAD v4 |
| 17 | g.17798072T>A | CA498425579 | RAI1 | c.5124T>A (p.Pro1708=) c.4788T>A (p.Pro1596=) | |
| 17 | g.17798072T>C | CA498425581 | RAI1 | c.5124T>C (p.Pro1708=) c.4788T>C (p.Pro1596=) | |
| 17 | g.17798072T>G | CA498425580 | RAI1 | c.5124T>G (p.Pro1708=) c.4788T>G (p.Pro1596=) | |
| 17 | g.17798073G>A | CA398558390 | RAI1 | c.5125G>A (p.Glu1709Lys) c.4789G>A (p.Glu1597Lys) | |
| 17 | g.17798073G>C | CA398558392 | RAI1 | c.5125G>C (p.Glu1709Gln) c.4789G>C (p.Glu1597Gln) | |
| 17 | g.17798073G>T | CA398558391 | RAI1 | c.5125G>T (p.Glu1709Ter) c.4789G>T (p.Glu1597Ter) | |
| 17 | g.17798074A>C | CA398558393 | RAI1 | c.5126A>C (p.Glu1709Ala) c.4790A>C (p.Glu1597Ala) | |
| 17 | g.17798074A>G | CA398558394 | RAI1 | c.5126A>G (p.Glu1709Gly) c.4790A>G (p.Glu1597Gly) | |
| 17 | g.17798074A>T | CA398558395 | RAI1 | c.5126A>T (p.Glu1709Val) c.4790A>T (p.Glu1597Val) | |
| 17 | g.17798075A= | CA2250696520 | RAI1 | c.5127A= (p.Glu1709=) c.4791A= (p.Glu1597=) | |
| 17 | g.17798075A>C | CA398558396 | RAI1 | c.5127A>C (p.Glu1709Asp) c.4791A>C (p.Glu1597Asp) | |
| 17 | g.17798075A>G | CA288371783 | RAI1 | c.5127A>G (p.Glu1709=) c.4791A>G (p.Glu1597=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798075A>T | CA398558397 | RAI1 | c.5127A>T (p.Glu1709Asp) c.4791A>T (p.Glu1597Asp) | |
| 17 | g.17798076C>A | CA398558398 | RAI1 | c.5128C>A (p.His1710Asn) c.4792C>A (p.His1598Asn) | |
| 17 | g.17798076C>G | CA398558399 | RAI1 | c.5128C>G (p.His1710Asp) c.4792C>G (p.His1598Asp) | |
| 17 | g.17798076C>T | CA398558400 | RAI1 | c.5128C>T (p.His1710Tyr) c.4792C>T (p.His1598Tyr) | |
| 17 | g.17798077A>C | CA398558401 | RAI1 | c.5129A>C (p.His1710Pro) c.4793A>C (p.His1598Pro) | |
| 17 | g.17798077A>G | CA398558402 | RAI1 | c.5129A>G (p.His1710Arg) c.4793A>G (p.His1598Arg) | |
| 17 | g.17798077A>T | CA398558403 | RAI1 | c.5129A>T (p.His1710Leu) c.4793A>T (p.His1598Leu) | |
| 17 | g.17798078C>A | CA398558404 | RAI1 | c.5130C>A (p.His1710Gln) c.4794C>A (p.His1598Gln) | |
| 17 | g.17798078C>G | CA398558405 | RAI1 | c.5130C>G (p.His1710Gln) c.4794C>G (p.His1598Gln) | |
| 17 | g.17798078C>T | CA498425587 | RAI1 | c.5130C>T (p.His1710=) c.4794C>T (p.His1598=) | |
| 17 | g.17798079T>A | CA398558406 | RAI1 | c.5131T>A (p.Cys1711Ser) c.4795T>A (p.Cys1599Ser) | |
| 17 | g.17798079T>C | CA398558407 | RAI1 | c.5131T>C (p.Cys1711Arg) c.4795T>C (p.Cys1599Arg) | COSMIC |
| 17 | g.17798079T>G | CA398558408 | RAI1 | c.5131T>G (p.Cys1711Gly) c.4795T>G (p.Cys1599Gly) | |
| 17 | g.17798080G>A | CA398558409 | RAI1 | c.5132G>A (p.Cys1711Tyr) c.4796G>A (p.Cys1599Tyr) | ClinVar gnomAD v4 |
| 17 | g.17798080G>C | CA398558410 | RAI1 | c.5132G>C (p.Cys1711Ser) c.4796G>C (p.Cys1599Ser) | |
| 17 | g.17798080G>T | CA398558411 | RAI1 | c.5132G>T (p.Cys1711Phe) c.4796G>T (p.Cys1599Phe) | |
| 17 | g.17798081C>A | CA398558412 | RAI1 | c.5133C>A (p.Cys1711Ter) c.4797C>A (p.Cys1599Ter) | |
| 17 | g.17798081C>G | CA398558413 | RAI1 | c.5133C>G (p.Cys1711Trp) c.4797C>G (p.Cys1599Trp) | |
| 17 | g.17798081C>T | CA498425592 | RAI1 | c.5133C>T (p.Cys1711=) c.4797C>T (p.Cys1599=) | |
| 17 | g.17798082C>A | CA398558414 | RAI1 | c.5134C>A (p.Leu1712Ile) c.4798C>A (p.Leu1600Ile) | |
| 17 | g.17798082C>G | CA398558415 | RAI1 | c.5134C>G (p.Leu1712Val) c.4798C>G (p.Leu1600Val) | |
| 17 | g.17798082C>T | CA398558416 | RAI1 | c.5134C>T (p.Leu1712Phe) c.4798C>T (p.Leu1600Phe) | |
| 17 | g.17798083T>A | CA398558418 | RAI1 | c.5135T>A (p.Leu1712His) c.4799T>A (p.Leu1600His) | |
| 17 | g.17798083T>C | CA398558419 | RAI1 | c.5135T>C (p.Leu1712Pro) c.4799T>C (p.Leu1600Pro) | |
| 17 | g.17798083T>G | CA398558417 | RAI1 | c.5135T>G (p.Leu1712Arg) c.4799T>G (p.Leu1600Arg) | |
| 17 | g.17798084C>A | CA498425594 | RAI1 | c.5136C>A (p.Leu1712=) c.4800C>A (p.Leu1600=) | |
| 17 | g.17798084C>G | CA498425595 | RAI1 | c.5136C>G (p.Leu1712=) c.4800C>G (p.Leu1600=) | |
| 17 | g.17798084C>T | CA498425596 | RAI1 | c.5136C>T (p.Leu1712=) c.4800C>T (p.Leu1600=) | |
| 17 | g.17798085C>A | CA398558420 | RAI1 | c.5137C>A (p.Pro1713Thr) c.4801C>A (p.Pro1601Thr) | |
| 17 | g.17798085C>G | CA398558421 | RAI1 | c.5137C>G (p.Pro1713Ala) c.4801C>G (p.Pro1601Ala) | gnomAD v4 |
| 17 | g.17798085C>T | CA398558422 | RAI1 | c.5137C>T (p.Pro1713Ser) c.4801C>T (p.Pro1601Ser) | gnomAD v4 |
| 17 | g.17798086C>A | CA398558423 | RAI1 | c.5138C>A (p.Pro1713His) c.4802C>A (p.Pro1601His) | |
| 17 | g.17798086C>G | CA398558424 | RAI1 | c.5138C>G (p.Pro1713Arg) c.4802C>G (p.Pro1601Arg) | |
| 17 | g.17798086C>T | CA398558425 | RAI1 | c.5138C>T (p.Pro1713Leu) c.4802C>T (p.Pro1601Leu) | |
| 17 | g.17798087C>A | CA498425598 | RAI1 | c.5139C>A (p.Pro1713=) c.4803C>A (p.Pro1601=) | |
| 17 | g.17798087C= | CA2250696525 | RAI1 | c.5139C= (p.Pro1713=) c.4803C= (p.Pro1601=) | |
| 17 | g.17798087C>G | CA498425599 | RAI1 | c.5139C>G (p.Pro1713=) c.4803C>G (p.Pro1601=) | gnomAD v4 |
| 17 | g.17798087C>T | CA8419092 | RAI1 | c.5139C>T (p.Pro1713=) c.4803C>T (p.Pro1601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798087_17798088delinsCA | CA2250696524 | RAI1 | c.5139_5140delinsCA (p.Pro1713=) c.4803_4804delinsCA (p.Pro1601=) | |
| 17 | g.17798088A= | CA2250696531 | RAI1 | c.5140A= (p.Lys1714=) c.4804A= (p.Lys1602=) | |
| 17 | g.17798088A>C | CA8419093 | RAI1 | c.5140A>C (p.Lys1714Gln) c.4804A>C (p.Lys1602Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798088A>G | CA398558426 | RAI1 | c.5140A>G (p.Lys1714Glu) c.4804A>G (p.Lys1602Glu) | |
| 17 | g.17798088A>T | CA398558427 | RAI1 | c.5140A>T (p.Lys1714Ter) c.4804A>T (p.Lys1602Ter) | |
| 17 | g.17798092del | CA645573470 | RAI1 | c.5144del (p.Lys1715ArgfsTer?) c.4808del (p.Lys1603ArgfsTer?) | dbSNP COSMIC |
| 17 | g.17798089A= | CA2250696534 | RAI1 | c.5141A= (p.Lys1714=) c.4805A= (p.Lys1602=) | |
| 17 | g.17798089A>C | CA398558428 | RAI1 | c.5141A>C (p.Lys1714Thr) c.4805A>C (p.Lys1602Thr) | |
| 17 | g.17798089A>G | CA8419094 | RAI1 | c.5141A>G (p.Lys1714Arg) c.4805A>G (p.Lys1602Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798089A>T | CA398558429 | RAI1 | c.5141A>T (p.Lys1714Ile) c.4805A>T (p.Lys1602Ile) | gnomAD v4 |
| 17 | g.17798090A>C | CA398558431 | RAI1 | c.5142A>C (p.Lys1714Asn) c.4806A>C (p.Lys1602Asn) | |
| 17 | g.17798090A>G | CA498425601 | RAI1 | c.5142A>G (p.Lys1714=) c.4806A>G (p.Lys1602=) | |
| 17 | g.17798090A>T | CA398558430 | RAI1 | c.5142A>T (p.Lys1714Asn) c.4806A>T (p.Lys1602Asn) | |
| 17 | g.17798090_17798091insCACACCCAACAC | CA2808653738 | RAI1 | c.5142_5143insCACACCCAACAC (p.Lys1714_Lys1715insHisThrGlnHis) c.4806_4807insCACACCCAACAC (p.Lys1602_Lys1603insHisThrGlnHis) | |
| 17 | g.17798091A>C | CA398558432 | RAI1 | c.5143A>C (p.Lys1715Gln) c.4807A>C (p.Lys1603Gln) | |
| 17 | g.17798091A>G | CA398558433 | RAI1 | c.5143A>G (p.Lys1715Glu) c.4807A>G (p.Lys1603Glu) | |
| 17 | g.17798091A>T | CA398558434 | RAI1 | c.5143A>T (p.Lys1715Ter) c.4807A>T (p.Lys1603Ter) | |
| 17 | g.17798094_17798096del | CA2636388302 | RAI1 | c.5146_5148del (p.Lys1716del) c.4810_4812del (p.Lys1604del) | gnomAD v4 |
| 17 | g.17798092A>C | CA398558435 | RAI1 | c.5144A>C (p.Lys1715Thr) c.4808A>C (p.Lys1603Thr) | |
| 17 | g.17798092A>G | CA398558436 | RAI1 | c.5144A>G (p.Lys1715Arg) c.4808A>G (p.Lys1603Arg) | gnomAD v4 |
| 17 | g.17798092A>T | CA398558437 | RAI1 | c.5144A>T (p.Lys1715Met) c.4808A>T (p.Lys1603Met) | COSMIC |
| 17 | g.17798093_17798094del | CA2580092616 | RAI1 | c.5145_5146del (p.Lys1716AlafsTer14) c.4809_4810del (p.Lys1604AlafsTer14) | ClinVar |
| 17 | g.17798093G>A | CA498425605 | RAI1 | c.5145G>A (p.Lys1715=) c.4809G>A (p.Lys1603=) | |
| 17 | g.17798093G>C | CA398558438 | RAI1 | c.5145G>C (p.Lys1715Asn) c.4809G>C (p.Lys1603Asn) | |
| 17 | g.17798093G>T | CA398558439 | RAI1 | c.5145G>T (p.Lys1715Asn) c.4809G>T (p.Lys1603Asn) | |
| 17 | g.17798094A>C | CA398558440 | RAI1 | c.5146A>C (p.Lys1716Gln) c.4810A>C (p.Lys1604Gln) | |
| 17 | g.17798094A>G | CA398558441 | RAI1 | c.5146A>G (p.Lys1716Glu) c.4810A>G (p.Lys1604Glu) | |
| 17 | g.17798094A>T | CA398558442 | RAI1 | c.5146A>T (p.Lys1716Ter) c.4810A>T (p.Lys1604Ter) | |
| 17 | g.17798095A= | CA2250696538 | RAI1 | c.5147A= (p.Lys1716=) c.4811A= (p.Lys1604=) | |
| 17 | g.17798095A>C | CA398558443 | RAI1 | c.5147A>C (p.Lys1716Thr) c.4811A>C (p.Lys1604Thr) | |
| 17 | g.17798095A>G | CA398558444 | RAI1 | c.5147A>G (p.Lys1716Arg) c.4811A>G (p.Lys1604Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798095A>T | CA398558445 | RAI1 | c.5147A>T (p.Lys1716Met) c.4811A>T (p.Lys1604Met) | |
| 17 | g.17798096G>A | CA498425606 | RAI1 | c.5148G>A (p.Lys1716=) c.4812G>A (p.Lys1604=) | |
| 17 | g.17798096G>C | CA398558446 | RAI1 | c.5148G>C (p.Lys1716Asn) c.4812G>C (p.Lys1604Asn) | |
| 17 | g.17798096G>T | CA398558447 | RAI1 | c.5148G>T (p.Lys1716Asn) c.4812G>T (p.Lys1604Asn) | |
| 17 | g.17798097C>A | CA398558448 | RAI1 | c.5149C>A (p.Pro1717Thr) c.4813C>A (p.Pro1605Thr) | |
| 17 | g.17798097C>G | CA398558450 | RAI1 | c.5149C>G (p.Pro1717Ala) c.4813C>G (p.Pro1605Ala) | |
| 17 | g.17798097C>T | CA398558449 | RAI1 | c.5149C>T (p.Pro1717Ser) c.4813C>T (p.Pro1605Ser) | |
| 17 | g.17798098C>A | CA398558451 | RAI1 | c.5150C>A (p.Pro1717Gln) c.4814C>A (p.Pro1605Gln) | |
| 17 | g.17798098C>G | CA398558452 | RAI1 | c.5150C>G (p.Pro1717Arg) c.4814C>G (p.Pro1605Arg) | |
| 17 | g.17798098C>T | CA398558453 | RAI1 | c.5150C>T (p.Pro1717Leu) c.4814C>T (p.Pro1605Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.17798099A>C | CA498425608 | RAI1 | c.5151A>C (p.Pro1717=) c.4815A>C (p.Pro1605=) | |
| 17 | g.17798099A>G | CA498425611 | RAI1 | c.5151A>G (p.Pro1717=) c.4815A>G (p.Pro1605=) | gnomAD v4 |
| 17 | g.17798099A>T | CA498425610 | RAI1 | c.5151A>T (p.Pro1717=) c.4815A>T (p.Pro1605=) | gnomAD v4 |
| 17 | g.17798100A>C | CA398558454 | RAI1 | c.5152A>C (p.Lys1718Gln) c.4816A>C (p.Lys1606Gln) | |
| 17 | g.17798100A>G | CA398558455 | RAI1 | c.5152A>G (p.Lys1718Glu) c.4816A>G (p.Lys1606Glu) | |
| 17 | g.17798100A>T | CA398558456 | RAI1 | c.5152A>T (p.Lys1718Ter) c.4816A>T (p.Lys1606Ter) | |
| 17 | g.17798101A= | CA2250696541 | RAI1 | c.5153A= (p.Lys1718=) c.4817A= (p.Lys1606=) | |
| 17 | g.17798101A>C | CA398558457 | RAI1 | c.5153A>C (p.Lys1718Thr) c.4817A>C (p.Lys1606Thr) | |
| 17 | g.17798101A>G | CA398558458 | RAI1 | c.5153A>G (p.Lys1718Arg) c.4817A>G (p.Lys1606Arg) | |
| 17 | g.17798101A>T | CA288371805 | RAI1 | c.5153A>T (p.Lys1718Ile) c.4817A>T (p.Lys1606Ile) | dbSNP |
| 17 | g.17798101_17798102insCACACCCA | CA2808653739 | RAI1 | c.5153_5154insCACACCCA (p.Lys1718AsnfsTer?) c.4817_4818insCACACCCA (p.Lys1606AsnfsTer?) | |
| 17 | g.17798102A= | CA2250696547 | RAI1 | c.5154A= (p.Lys1718=) c.4818A= (p.Lys1606=) | |
| 17 | g.17798102A>C | CA398558459 | RAI1 | c.5154A>C (p.Lys1718Asn) c.4818A>C (p.Lys1606Asn) | |
| 17 | g.17798102A>G | CA498425614 | RAI1 | c.5154A>G (p.Lys1718=) c.4818A>G (p.Lys1606=) | |
| 17 | g.17798102A>T | CA398558460 | RAI1 | c.5154A>T (p.Lys1718Asn) c.4818A>T (p.Lys1606Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798103C>A | CA398558463 | RAI1 | c.5155C>A (p.Leu1719Ile) c.4819C>A (p.Leu1607Ile) | |
| 17 | g.17798103C= | CA2250696554 | RAI1 | c.5155C= (p.Leu1719=) c.4819C= (p.Leu1607=) | |
| 17 | g.17798103C>G | CA398558462 | RAI1 | c.5155C>G (p.Leu1719Val) c.4819C>G (p.Leu1607Val) | gnomAD v4 |
| 17 | g.17798103C>T | CA398558461 | RAI1 | c.5155C>T (p.Leu1719Phe) c.4819C>T (p.Leu1607Phe) | dbSNP |
| 17 | g.17798104T>A | CA398558464 | RAI1 | c.5156T>A (p.Leu1719His) c.4820T>A (p.Leu1607His) | |
| 17 | g.17798104T>C | CA398558465 | RAI1 | c.5156T>C (p.Leu1719Pro) c.4820T>C (p.Leu1607Pro) | |
| 17 | g.17798104T>G | CA398558466 | RAI1 | c.5156T>G (p.Leu1719Arg) c.4820T>G (p.Leu1607Arg) | |
| 17 | g.17798105C>A | CA498425618 | RAI1 | c.5157C>A (p.Leu1719=) c.4821C>A (p.Leu1607=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798105C= | CA2250696564 | RAI1 | c.5157C= (p.Leu1719=) c.4821C= (p.Leu1607=) | |
| 17 | g.17798105C>G | CA498425619 | RAI1 | c.5157C>G (p.Leu1719=) c.4821C>G (p.Leu1607=) | |
| 17 | g.17798105C>T | CA498425620 | RAI1 | c.5157C>T (p.Leu1719=) c.4821C>T (p.Leu1607=) | |
| 17 | g.17798106A= | CA2250696568 | RAI1 | c.5158A= (p.Lys1720=) c.4822A= (p.Lys1608=) | |
| 17 | g.17798106A>C | CA8419095 | RAI1 | c.5158A>C (p.Lys1720Gln) c.4822A>C (p.Lys1608Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798106A>G | CA398558467 | RAI1 | c.5158A>G (p.Lys1720Glu) c.4822A>G (p.Lys1608Glu) | dbSNP |
| 17 | g.17798106A>T | CA398558468 | RAI1 | c.5158A>T (p.Lys1720Ter) c.4822A>T (p.Lys1608Ter) | |
| 17 | g.17798106_17798109delinsAAGG | CA2250696567 | RAI1 | c.5158_5161delinsAAGG (p.Lys1720=) c.4822_4825delinsAAGG (p.Lys1608=) | |
| 17 | g.17798107A>C | CA398558469 | RAI1 | c.5159A>C (p.Lys1720Thr) c.4823A>C (p.Lys1608Thr) | |
| 17 | g.17798107A>G | CA398558470 | RAI1 | c.5159A>G (p.Lys1720Arg) c.4823A>G (p.Lys1608Arg) | |
| 17 | g.17798107A>T | CA398558471 | RAI1 | c.5159A>T (p.Lys1720Met) c.4823A>T (p.Lys1608Met) | |
| 17 | g.17798109_17798111del | CA8419096 | RAI1 | c.5161_5163del (p.Glu1721del) c.4825_4827del (p.Glu1609del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798108G>A | CA498425626 | RAI1 | c.5160G>A (p.Lys1720=) c.4824G>A (p.Lys1608=) | |
| 17 | g.17798108G>C | CA398558472 | RAI1 | c.5160G>C (p.Lys1720Asn) c.4824G>C (p.Lys1608Asn) | |
| 17 | g.17798108G>T | CA398558473 | RAI1 | c.5160G>T (p.Lys1720Asn) c.4824G>T (p.Lys1608Asn) | |
| 17 | g.17798109G>A | CA398558476 | RAI1 | c.5161G>A (p.Glu1721Lys) c.4825G>A (p.Glu1609Lys) | gnomAD v4 |
| 17 | g.17798109G>C | CA398558475 | RAI1 | c.5161G>C (p.Glu1721Gln) c.4825G>C (p.Glu1609Gln) | |
| 17 | g.17798109G>T | CA398558474 | RAI1 | c.5161G>T (p.Glu1721Ter) c.4825G>T (p.Glu1609Ter) | |
| 17 | g.17798110A= | CA2250696582 | RAI1 | c.5162A= (p.Glu1721=) c.4826A= (p.Glu1609=) | |
| 17 | g.17798110A>C | CA398558477 | RAI1 | c.5162A>C (p.Glu1721Ala) c.4826A>C (p.Glu1609Ala) | |
| 17 | g.17798110A>G | CA398558478 | RAI1 | c.5162A>G (p.Glu1721Gly) c.4826A>G (p.Glu1609Gly) | dbSNP gnomAD v4 |
| 17 | g.17798110A>T | CA398558479 | RAI1 | c.5162A>T (p.Glu1721Val) c.4826A>T (p.Glu1609Val) | |
| 17 | g.17798111G>A | CA8419097 | RAI1 | c.5163G>A (p.Glu1721=) c.4827G>A (p.Glu1609=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798111G>C | CA398558480 | RAI1 | c.5163G>C (p.Glu1721Asp) c.4827G>C (p.Glu1609Asp) | |
| 17 | g.17798111G= | CA2250696586 | RAI1 | c.5163G= (p.Glu1721=) c.4827G= (p.Glu1609=) | |
| 17 | g.17798111G>T | CA398558481 | RAI1 | c.5163G>T (p.Glu1721Asp) c.4827G>T (p.Glu1609Asp) | |
| 17 | g.17798112A>C | CA398558484 | RAI1 | c.5164A>C (p.Lys1722Gln) c.4828A>C (p.Lys1610Gln) | |
| 17 | g.17798112A>G | CA398558482 | RAI1 | c.5164A>G (p.Lys1722Glu) c.4828A>G (p.Lys1610Glu) | ClinVar dbSNP |
| 17 | g.17798112A>T | CA398558483 | RAI1 | c.5164A>T (p.Lys1722Ter) c.4828A>T (p.Lys1610Ter) | |
| 17 | g.17798113A>C | CA398558485 | RAI1 | c.5165A>C (p.Lys1722Thr) c.4829A>C (p.Lys1610Thr) | |
| 17 | g.17798113A>G | CA398558486 | RAI1 | c.5165A>G (p.Lys1722Arg) c.4829A>G (p.Lys1610Arg) | |
| 17 | g.17798113A>T | CA398558487 | RAI1 | c.5165A>T (p.Lys1722Met) c.4829A>T (p.Lys1610Met) | |
| 17 | g.17798114G>A | CA498425633 | RAI1 | c.5166G>A (p.Lys1722=) c.4830G>A (p.Lys1610=) | |
| 17 | g.17798114G>C | CA398558488 | RAI1 | c.5166G>C (p.Lys1722Asn) c.4830G>C (p.Lys1610Asn) | |
| 17 | g.17798114G>T | CA398558489 | RAI1 | c.5166G>T (p.Lys1722Asn) c.4830G>T (p.Lys1610Asn) | |
| 17 | g.17798115G>A | CA8419098 | RAI1 | c.5167G>A (p.Val1723Met) c.4831G>A (p.Val1611Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798115G>C | CA398558491 | RAI1 | c.5167G>C (p.Val1723Leu) c.4831G>C (p.Val1611Leu) | |
| 17 | g.17798115G= | CA2250696591 | RAI1 | c.5167G= (p.Val1723=) c.4831G= (p.Val1611=) | |
| 17 | g.17798115G>T | CA398558490 | RAI1 | c.5167G>T (p.Val1723Leu) c.4831G>T (p.Val1611Leu) | dbSNP |
| 17 | g.17798116T>A | CA398558492 | RAI1 | c.5168T>A (p.Val1723Glu) c.4832T>A (p.Val1611Glu) | |
| 17 | g.17798116T>C | CA398558493 | RAI1 | c.5168T>C (p.Val1723Ala) c.4832T>C (p.Val1611Ala) | |
| 17 | g.17798116T>G | CA398558494 | RAI1 | c.5168T>G (p.Val1723Gly) c.4832T>G (p.Val1611Gly) | |
| 17 | g.17798117G>A | CA8419099 | RAI1 | c.5169G>A (p.Val1723=) c.4833G>A (p.Val1611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.17798117G>C | CA498425639 | RAI1 | c.5169G>C (p.Val1723=) c.4833G>C (p.Val1611=) | |
| 17 | g.17798117G= | CA2250696596 | RAI1 | c.5169G= (p.Val1723=) c.4833G= (p.Val1611=) | |
| 17 | g.17798117G>T | CA498425640 | RAI1 | c.5169G>T (p.Val1723=) c.4833G>T (p.Val1611=) | |
| 17 | g.17798118C>A | CA498425642 | RAI1 | c.5170C>A (p.Arg1724=) c.4834C>A (p.Arg1612=) | gnomAD v4 |
| 17 | g.17798118C= | CA2250696603 | RAI1 | c.5170C= (p.Arg1724=) c.4834C= (p.Arg1612=) | |
| 17 | g.17798118C>G | CA8419101 | RAI1 | c.5170C>G (p.Arg1724Gly) c.4834C>G (p.Arg1612Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798118C>T | CA8419100 | RAI1 | c.5170C>T (p.Arg1724Trp) c.4834C>T (p.Arg1612Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.17798119G>A | CA8419102 | RAI1 | c.5171G>A (p.Arg1724Gln) c.4835G>A (p.Arg1612Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798119G>C | CA398558495 | RAI1 | c.5171G>C (p.Arg1724Pro) c.4835G>C (p.Arg1612Pro) | |
| 17 | g.17798119G= | CA2250696604 | RAI1 | c.5171G= (p.Arg1724=) c.4835G= (p.Arg1612=) | |
| 17 | g.17798119G>T | CA398558496 | RAI1 | c.5171G>T (p.Arg1724Leu) c.4835G>T (p.Arg1612Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798120G>A | CA8419103 | RAI1 | c.5172G>A (p.Arg1724=) c.4836G>A (p.Arg1612=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798120G>C | CA498425646 | RAI1 | c.5172G>C (p.Arg1724=) c.4836G>C (p.Arg1612=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798120G= | CA2250696608 | RAI1 | c.5172G= (p.Arg1724=) c.4836G= (p.Arg1612=) | |
| 17 | g.17798120G>T | CA8419104 | RAI1 | c.5172G>T (p.Arg1724=) c.4836G>T (p.Arg1612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798121C>A | CA398558499 | RAI1 | c.5173C>A (p.Pro1725Thr) c.4837C>A (p.Pro1613Thr) | |
| 17 | g.17798121C>G | CA398558498 | RAI1 | c.5173C>G (p.Pro1725Ala) c.4837C>G (p.Pro1613Ala) | |
| 17 | g.17798121C>T | CA398558497 | RAI1 | c.5173C>T (p.Pro1725Ser) c.4837C>T (p.Pro1613Ser) | gnomAD v4 |
| 17 | g.17798122C>A | CA398558500 | RAI1 | c.5174C>A (p.Pro1725Gln) c.4838C>A (p.Pro1613Gln) | |
| 17 | g.17798122C>G | CA398558502 | RAI1 | c.5174C>G (p.Pro1725Arg) c.4838C>G (p.Pro1613Arg) | |
| 17 | g.17798122C>T | CA398558501 | RAI1 | c.5174C>T (p.Pro1725Leu) c.4838C>T (p.Pro1613Leu) | gnomAD v4 |
| 17 | g.17798123A= | CA2250696612 | RAI1 | c.5175A= (p.Pro1725=) c.4839A= (p.Pro1613=) | |
| 17 | g.17798123A>C | CA498425649 | RAI1 | c.5175A>C (p.Pro1725=) c.4839A>C (p.Pro1613=) | |
| 17 | g.17798123A>G | CA288371828 | RAI1 | c.5175A>G (p.Pro1725=) c.4839A>G (p.Pro1613=) | dbSNP |
| 17 | g.17798123A>T | CA498425652 | RAI1 | c.5175A>T (p.Pro1725=) c.4839A>T (p.Pro1613=) | |
| 17 | g.17798124G>A | CA398558503 | RAI1 | c.5176G>A (p.Glu1726Lys) c.4840G>A (p.Glu1614Lys) | |
| 17 | g.17798124G>C | CA398558504 | RAI1 | c.5176G>C (p.Glu1726Gln) c.4840G>C (p.Glu1614Gln) | |
| 17 | g.17798124G>T | CA398558505 | RAI1 | c.5176G>T (p.Glu1726Ter) c.4840G>T (p.Glu1614Ter) | ClinVar |
| 17 | g.17798125A>C | CA398558506 | RAI1 | c.5177A>C (p.Glu1726Ala) c.4841A>C (p.Glu1614Ala) | |
| 17 | g.17798125A>G | CA398558507 | RAI1 | c.5177A>G (p.Glu1726Gly) c.4841A>G (p.Glu1614Gly) | |
| 17 | g.17798125A>T | CA398558508 | RAI1 | c.5177A>T (p.Glu1726Val) c.4841A>T (p.Glu1614Val) | |
| 17 | g.17798126A>C | CA398558510 | RAI1 | c.5178A>C (p.Glu1726Asp) c.4842A>C (p.Glu1614Asp) | |
| 17 | g.17798126A>G | CA498425654 | RAI1 | c.5178A>G (p.Glu1726=) c.4842A>G (p.Glu1614=) | |
| 17 | g.17798126A>T | CA398558509 | RAI1 | c.5178A>T (p.Glu1726Asp) c.4842A>T (p.Glu1614Asp) | |
| 17 | g.17798127G>A | CA398558511 | RAI1 | c.5179G>A (p.Gly1727Ser) c.4843G>A (p.Gly1615Ser) | |
| 17 | g.17798127G>C | CA398558512 | RAI1 | c.5179G>C (p.Gly1727Arg) c.4843G>C (p.Gly1615Arg) | |
| 17 | g.17798127G>T | CA398558513 | RAI1 | c.5179G>T (p.Gly1727Cys) c.4843G>T (p.Gly1615Cys) | |
| 17 | g.17798128G>A | CA398558514 | RAI1 | c.5180G>A (p.Gly1727Asp) c.4844G>A (p.Gly1615Asp) | ClinVar dbSNP |
| 17 | g.17798128G>C | CA398558515 | RAI1 | c.5180G>C (p.Gly1727Ala) c.4844G>C (p.Gly1615Ala) | |
| 17 | g.17798128G>T | CA398558516 | RAI1 | c.5180G>T (p.Gly1727Val) c.4844G>T (p.Gly1615Val) | |
| 17 | g.17798129C>A | CA498425664 | RAI1 | c.5181C>A (p.Gly1727=) c.4845C>A (p.Gly1615=) | ClinVar |
| 17 | g.17798129C>G | CA498425662 | RAI1 | c.5181C>G (p.Gly1727=) c.4845C>G (p.Gly1615=) | |
| 17 | g.17798129C>T | CA498425663 | RAI1 | c.5181C>T (p.Gly1727=) c.4845C>T (p.Gly1615=) | |
| 17 | g.17798129_17798130delinsCA | CA2250696615 | RAI1 | c.5181_5182delinsCA (p.Gly1727=) c.4845_4846delinsCA (p.Gly1615=) | |
| 17 | g.17798130del | CA16620344 | RAI1 | c.5182del (p.Thr1728ProfsTer?) c.4846del (p.Thr1616ProfsTer?) | ClinVar dbSNP |
| 17 | g.17798130A>C | CA398558519 | RAI1 | c.5182A>C (p.Thr1728Pro) c.4846A>C (p.Thr1616Pro) | |
| 17 | g.17798130A>G | CA398558517 | RAI1 | c.5182A>G (p.Thr1728Ala) c.4846A>G (p.Thr1616Ala) | |
| 17 | g.17798130A>T | CA398558518 | RAI1 | c.5182A>T (p.Thr1728Ser) c.4846A>T (p.Thr1616Ser) | |
| 17 | g.17798131C>A | CA398558520 | RAI1 | c.5183C>A (p.Thr1728Asn) c.4847C>A (p.Thr1616Asn) | |
| 17 | g.17798131C= | CA2250696624 | RAI1 | c.5183C= (p.Thr1728=) c.4847C= (p.Thr1616=) | |
| 17 | g.17798131C>G | CA398558521 | RAI1 | c.5183C>G (p.Thr1728Ser) c.4847C>G (p.Thr1616Ser) | |
| 17 | g.17798131C>T | CA8419105 | RAI1 | c.5183C>T (p.Thr1728Ile) c.4847C>T (p.Thr1616Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798131_17798134del | CA2555157721 | RAI1 | c.5183_5186del (p.Thr1728MetfsTer?) c.4847_4850del (p.Thr1616MetfsTer?) | |
| 17 | g.17798132C>A | CA498425667 | RAI1 | c.5184C>A (p.Thr1728=) c.4848C>A (p.Thr1616=) | |
| 17 | g.17798132C= | CA2250696625 | RAI1 | c.5184C= (p.Thr1728=) c.4848C= (p.Thr1616=) | |
| 17 | g.17798132C>G | CA498425668 | RAI1 | c.5184C>G (p.Thr1728=) c.4848C>G (p.Thr1616=) | |
| 17 | g.17798132C>T | CA8419106 | RAI1 | c.5184C>T (p.Thr1728=) c.4848C>T (p.Thr1616=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798133T>A | CA398558522 | RAI1 | c.5185T>A (p.Cys1729Ser) c.4849T>A (p.Cys1617Ser) | |
| 17 | g.17798133T>C | CA398558523 | RAI1 | c.5185T>C (p.Cys1729Arg) c.4849T>C (p.Cys1617Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798133T>G | CA398558524 | RAI1 | c.5185T>G (p.Cys1729Gly) c.4849T>G (p.Cys1617Gly) | |
| 17 | g.17798133T= | CA2250696627 | RAI1 | c.5185T= (p.Cys1729=) c.4849T= (p.Cys1617=) | |
| 17 | g.17798134G>A | CA398558525 | RAI1 | c.5186G>A (p.Cys1729Tyr) c.4850G>A (p.Cys1617Tyr) | |
| 17 | g.17798134G>C | CA288371840 | RAI1 | c.5186G>C (p.Cys1729Ser) c.4850G>C (p.Cys1617Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798134G= | CA2250696630 | RAI1 | c.5186G= (p.Cys1729=) c.4850G= (p.Cys1617=) | |
| 17 | g.17798134G>T | CA398558526 | RAI1 | c.5186G>T (p.Cys1729Phe) c.4850G>T (p.Cys1617Phe) | |
| 17 | g.17798135T>A | CA398558527 | RAI1 | c.5187T>A (p.Cys1729Ter) c.4851T>A (p.Cys1617Ter) | |
| 17 | g.17798135T>C | CA498425669 | RAI1 | c.5187T>C (p.Cys1729=) c.4851T>C (p.Cys1617=) | |
| 17 | g.17798135T>G | CA398558528 | RAI1 | c.5187T>G (p.Cys1729Trp) c.4851T>G (p.Cys1617Trp) |