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.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) | |
| 17 | g.17798136G>A | CA398558529 | RAI1 | c.5188G>A (p.Glu1730Lys) c.4852G>A (p.Glu1618Lys) | |
| 17 | g.17798136G>C | CA398558531 | RAI1 | c.5188G>C (p.Glu1730Gln) c.4852G>C (p.Glu1618Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798136G= | CA2250696634 | RAI1 | c.5188G= (p.Glu1730=) c.4852G= (p.Glu1618=) | |
| 17 | g.17798136G>T | CA398558530 | RAI1 | c.5188G>T (p.Glu1730Ter) c.4852G>T (p.Glu1618Ter) | |
| 17 | g.17798140_17798142del | CA645573471 | RAI1 | c.5192_5194del (p.Glu1731del) c.4856_4858del (p.Glu1619del) | COSMIC |
| 17 | g.17798137A>C | CA398558532 | RAI1 | c.5189A>C (p.Glu1730Ala) c.4853A>C (p.Glu1618Ala) | |
| 17 | g.17798137A>G | CA398558533 | RAI1 | c.5189A>G (p.Glu1730Gly) c.4853A>G (p.Glu1618Gly) | |
| 17 | g.17798137A>T | CA398558534 | RAI1 | c.5189A>T (p.Glu1730Val) c.4853A>T (p.Glu1618Val) | |
| 17 | g.17798138G>A | CA288371842 | RAI1 | c.5190G>A (p.Glu1730=) c.4854G>A (p.Glu1618=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798138G>C | CA398558535 | RAI1 | c.5190G>C (p.Glu1730Asp) c.4854G>C (p.Glu1618Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798138G= | CA2250696638 | RAI1 | c.5190G= (p.Glu1730=) c.4854G= (p.Glu1618=) | |
| 17 | g.17798138G>T | CA398558537 | RAI1 | c.5190G>T (p.Glu1730Asp) c.4854G>T (p.Glu1618Asp) | |
| 17 | g.17798139G>A | CA398558538 | RAI1 | c.5191G>A (p.Glu1731Lys) c.4855G>A (p.Glu1619Lys) | |
| 17 | g.17798139G>C | CA398558540 | RAI1 | c.5191G>C (p.Glu1731Gln) c.4855G>C (p.Glu1619Gln) | |
| 17 | g.17798139G>T | CA398558542 | RAI1 | c.5191G>T (p.Glu1731Ter) c.4855G>T (p.Glu1619Ter) | |
| 17 | g.17798140A>C | CA398558543 | RAI1 | c.5192A>C (p.Glu1731Ala) c.4856A>C (p.Glu1619Ala) | |
| 17 | g.17798140A>G | CA398558544 | RAI1 | c.5192A>G (p.Glu1731Gly) c.4856A>G (p.Glu1619Gly) | ClinVar |
| 17 | g.17798140A>T | CA398558546 | RAI1 | c.5192A>T (p.Glu1731Val) c.4856A>T (p.Glu1619Val) | |
| 17 | g.17798141G>A | CA498425670 | RAI1 | c.5193G>A (p.Glu1731=) c.4857G>A (p.Glu1619=) | |
| 17 | g.17798141G>C | CA288371843 | RAI1 | c.5193G>C (p.Glu1731Asp) c.4857G>C (p.Glu1619Asp) | dbSNP |
| 17 | g.17798141G= | CA2250696653 | RAI1 | c.5193G= (p.Glu1731=) c.4857G= (p.Glu1619=) | |
| 17 | g.17798141G>T | CA398558547 | RAI1 | c.5193G>T (p.Glu1731Asp) c.4857G>T (p.Glu1619Asp) | |
| 17 | g.17798142G>A | CA398558548 | RAI1 | c.5194G>A (p.Ala1732Thr) c.4858G>A (p.Ala1620Thr) | gnomAD v4 |
| 17 | g.17798142G>C | CA398558550 | RAI1 | c.5194G>C (p.Ala1732Pro) c.4858G>C (p.Ala1620Pro) | |
| 17 | g.17798142G>T | CA398558549 | RAI1 | c.5194G>T (p.Ala1732Ser) c.4858G>T (p.Ala1620Ser) | |
| 17 | g.17798143C>A | CA398558551 | RAI1 | c.5195C>A (p.Ala1732Asp) c.4859C>A (p.Ala1620Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798143C= | CA2250696656 | RAI1 | c.5195C= (p.Ala1732=) c.4859C= (p.Ala1620=) | |
| 17 | g.17798143C>G | CA398558553 | RAI1 | c.5195C>G (p.Ala1732Gly) c.4859C>G (p.Ala1620Gly) | gnomAD v4 |
| 17 | g.17798143C>T | CA398558554 | RAI1 | c.5195C>T (p.Ala1732Val) c.4859C>T (p.Ala1620Val) | |
| 17 | g.17798144C>A | CA498425671 | RAI1 | c.5196C>A (p.Ala1732=) c.4860C>A (p.Ala1620=) | |
| 17 | g.17798144C= | CA2250696658 | RAI1 | c.5196C= (p.Ala1732=) c.4860C= (p.Ala1620=) | |
| 17 | g.17798144C>G | CA498425672 | RAI1 | c.5196C>G (p.Ala1732=) c.4860C>G (p.Ala1620=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798144C>T | CA498425673 | RAI1 | c.5196C>T (p.Ala1732=) c.4860C>T (p.Ala1620=) | |
| 17 | g.17798145T>A | CA398558556 | RAI1 | c.5197T>A (p.Ser1733Thr) c.4861T>A (p.Ser1621Thr) | |
| 17 | g.17798145T>C | CA398558558 | RAI1 | c.5197T>C (p.Ser1733Pro) c.4861T>C (p.Ser1621Pro) | |
| 17 | g.17798145T>G | CA398558559 | RAI1 | c.5197T>G (p.Ser1733Ala) c.4861T>G (p.Ser1621Ala) | |
| 17 | g.17798146C>A | CA398558560 | RAI1 | c.5198C>A (p.Ser1733Ter) c.4862C>A (p.Ser1621Ter) | |
| 17 | g.17798146C= | CA2250696678 | RAI1 | c.5198C= (p.Ser1733=) c.4862C= (p.Ser1621=) | |
| 17 | g.17798146C>G | CA398558562 | RAI1 | c.5198C>G (p.Ser1733Trp) c.4862C>G (p.Ser1621Trp) | |
| 17 | g.17798146C>T | CA8419107 | RAI1 | c.5198C>T (p.Ser1733Leu) c.4862C>T (p.Ser1621Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.17798147G>A | CA8419108 | RAI1 | c.5199G>A (p.Ser1733=) c.4863G>A (p.Ser1621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798147G>C | CA498425674 | RAI1 | c.5199G>C (p.Ser1733=) c.4863G>C (p.Ser1621=) | |
| 17 | g.17798147G= | CA2250696681 | RAI1 | c.5199G= (p.Ser1733=) c.4863G= (p.Ser1621=) | |
| 17 | g.17798147G>T | CA8419109 | RAI1 | c.5199G>T (p.Ser1733=) c.4863G>T (p.Ser1621=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.17798148C>A | CA398558566 | RAI1 | c.5200C>A (p.Leu1734Met) c.4864C>A (p.Leu1622Met) | |
| 17 | g.17798148C>G | CA398558564 | RAI1 | c.5200C>G (p.Leu1734Val) c.4864C>G (p.Leu1622Val) | |
| 17 | g.17798148C>T | CA498425675 | RAI1 | c.5200C>T (p.Leu1734=) c.4864C>T (p.Leu1622=) | |
| 17 | g.17798149T>A | CA398558568 | RAI1 | c.5201T>A (p.Leu1734Gln) c.4865T>A (p.Leu1622Gln) | |
| 17 | g.17798149T>C | CA398558570 | RAI1 | c.5201T>C (p.Leu1734Pro) c.4865T>C (p.Leu1622Pro) | |
| 17 | g.17798149T>G | CA398558571 | RAI1 | c.5201T>G (p.Leu1734Arg) c.4865T>G (p.Leu1622Arg) | |
| 17 | g.17798150G>A | CA498425678 | RAI1 | c.5202G>A (p.Leu1734=) c.4866G>A (p.Leu1622=) | ClinVar |
| 17 | g.17798150G>C | CA498425677 | RAI1 | c.5202G>C (p.Leu1734=) c.4866G>C (p.Leu1622=) | |
| 17 | g.17798150G>T | CA498425676 | RAI1 | c.5202G>T (p.Leu1734=) c.4866G>T (p.Leu1622=) | |
| 17 | g.17798151C>A | CA398558572 | RAI1 | c.5203C>A (p.Pro1735Thr) c.4867C>A (p.Pro1623Thr) | |
| 17 | g.17798151C>G | CA398558573 | RAI1 | c.5203C>G (p.Pro1735Ala) c.4867C>G (p.Pro1623Ala) | |
| 17 | g.17798151C>T | CA398558575 | RAI1 | c.5203C>T (p.Pro1735Ser) c.4867C>T (p.Pro1623Ser) | |
| 17 | g.17798152C>A | CA398558578 | RAI1 | c.5204C>A (p.Pro1735Gln) c.4868C>A (p.Pro1623Gln) | |
| 17 | g.17798152C= | CA2250696688 | RAI1 | c.5204C= (p.Pro1735=) c.4868C= (p.Pro1623=) | |
| 17 | g.17798152C>G | CA398558577 | RAI1 | c.5204C>G (p.Pro1735Arg) c.4868C>G (p.Pro1623Arg) | |
| 17 | g.17798152C>T | CA206845 | RAI1 | c.5204C>T (p.Pro1735Leu) c.4868C>T (p.Pro1623Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798153G>A | CA8419110 | RAI1 | c.5205G>A (p.Pro1735=) c.4869G>A (p.Pro1623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798153G>C | CA498425679 | RAI1 | c.5205G>C (p.Pro1735=) c.4869G>C (p.Pro1623=) | gnomAD v4 |
| 17 | g.17798153G= | CA2250696698 | RAI1 | c.5205G= (p.Pro1735=) c.4869G= (p.Pro1623=) | |
| 17 | g.17798153G>T | CA498425680 | RAI1 | c.5205G>T (p.Pro1735=) c.4869G>T (p.Pro1623=) | ClinVar |
| 17 | g.17798154C>A | CA398558579 | RAI1 | c.5206C>A (p.Leu1736Ile) c.4870C>A (p.Leu1624Ile) | |
| 17 | g.17798154C>G | CA398558580 | RAI1 | c.5206C>G (p.Leu1736Val) c.4870C>G (p.Leu1624Val) | |
| 17 | g.17798154C>T | CA398558581 | RAI1 | c.5206C>T (p.Leu1736Phe) c.4870C>T (p.Leu1624Phe) | |
| 17 | g.17798155T>A | CA398558582 | RAI1 | c.5207T>A (p.Leu1736His) c.4871T>A (p.Leu1624His) | |
| 17 | g.17798155T>C | CA398558583 | RAI1 | c.5207T>C (p.Leu1736Pro) c.4871T>C (p.Leu1624Pro) | |
| 17 | g.17798155T>G | CA398558584 | RAI1 | c.5207T>G (p.Leu1736Arg) c.4871T>G (p.Leu1624Arg) | |
| 17 | g.17798156T>A | CA498425681 | RAI1 | c.5208T>A (p.Leu1736=) c.4872T>A (p.Leu1624=) | |
| 17 | g.17798156T>C | CA498425683 | RAI1 | c.5208T>C (p.Leu1736=) c.4872T>C (p.Leu1624=) | |
| 17 | g.17798156T>G | CA498425682 | RAI1 | c.5208T>G (p.Leu1736=) c.4872T>G (p.Leu1624=) | |
| 17 | g.17798157G>A | CA398558585 | RAI1 | c.5209G>A (p.Glu1737Lys) c.4873G>A (p.Glu1625Lys) | |
| 17 | g.17798157G>C | CA398558588 | RAI1 | c.5209G>C (p.Glu1737Gln) c.4873G>C (p.Glu1625Gln) | |
| 17 | g.17798157G>T | CA398558586 | RAI1 | c.5209G>T (p.Glu1737Ter) c.4873G>T (p.Glu1625Ter) | |
| 17 | g.17798158A>C | CA398558589 | RAI1 | c.5210A>C (p.Glu1737Ala) c.4874A>C (p.Glu1625Ala) | |
| 17 | g.17798158A>G | CA398558590 | RAI1 | c.5210A>G (p.Glu1737Gly) c.4874A>G (p.Glu1625Gly) | |
| 17 | g.17798158A>T | CA398558591 | RAI1 | c.5210A>T (p.Glu1737Val) c.4874A>T (p.Glu1625Val) | |
| 17 | g.17798159G>A | CA498425684 | RAI1 | c.5211G>A (p.Glu1737=) c.4875G>A (p.Glu1625=) | |
| 17 | g.17798159G>C | CA398558593 | RAI1 | c.5211G>C (p.Glu1737Asp) c.4875G>C (p.Glu1625Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798159G= | CA2250696703 | RAI1 | c.5211G= (p.Glu1737=) c.4875G= (p.Glu1625=) | |
| 17 | g.17798159G>T | CA398558594 | RAI1 | c.5211G>T (p.Glu1737Asp) c.4875G>T (p.Glu1625Asp) | |
| 17 | g.17798160A>C | CA498425685 | RAI1 | c.5212A>C (p.Arg1738=) c.4876A>C (p.Arg1626=) | |
| 17 | g.17798160A>G | CA398558595 | RAI1 | c.5212A>G (p.Arg1738Gly) c.4876A>G (p.Arg1626Gly) | |
| 17 | g.17798160A>T | CA398558597 | RAI1 | c.5212A>T (p.Arg1738Ter) c.4876A>T (p.Arg1626Ter) | |
| 17 | g.17798161G>A | CA398558600 | RAI1 | c.5213G>A (p.Arg1738Lys) c.4877G>A (p.Arg1626Lys) | |
| 17 | g.17798161G>C | CA398558601 | RAI1 | c.5213G>C (p.Arg1738Thr) c.4877G>C (p.Arg1626Thr) | |
| 17 | g.17798161G>T | CA398558602 | RAI1 | c.5213G>T (p.Arg1738Ile) c.4877G>T (p.Arg1626Ile) | |
| 17 | g.17798162A= | CA2250696706 | RAI1 | c.5214A= (p.Arg1738=) c.4878A= (p.Arg1626=) | |
| 17 | g.17798162A>C | CA398558603 | RAI1 | c.5214A>C (p.Arg1738Ser) c.4878A>C (p.Arg1626Ser) | |
| 17 | g.17798162A>G | CA498425686 | RAI1 | c.5214A>G (p.Arg1738=) c.4878A>G (p.Arg1626=) | |
| 17 | g.17798162A>T | CA398558604 | RAI1 | c.5214A>T (p.Arg1738Ser) c.4878A>T (p.Arg1626Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798163A>C | CA398558605 | RAI1 | c.5215A>C (p.Thr1739Pro) c.4879A>C (p.Thr1627Pro) | |
| 17 | g.17798163A>G | CA398558608 | RAI1 | c.5215A>G (p.Thr1739Ala) c.4879A>G (p.Thr1627Ala) | |
| 17 | g.17798163A>T | CA398558606 | RAI1 | c.5215A>T (p.Thr1739Ser) c.4879A>T (p.Thr1627Ser) | |
| 17 | g.17798164C>A | CA398558609 | RAI1 | c.5216C>A (p.Thr1739Lys) c.4880C>A (p.Thr1627Lys) | |
| 17 | g.17798164C= | CA2250696714 | RAI1 | c.5216C= (p.Thr1739=) c.4880C= (p.Thr1627=) | |
| 17 | g.17798164C>G | CA398558611 | RAI1 | c.5216C>G (p.Thr1739Arg) c.4880C>G (p.Thr1627Arg) | |
| 17 | g.17798164C>T | CA398558613 | RAI1 | c.5216C>T (p.Thr1739Ile) c.4880C>T (p.Thr1627Ile) | dbSNP |
| 17 | g.17798165A= | CA2250696719 | RAI1 | c.5217A= (p.Thr1739=) c.4881A= (p.Thr1627=) | |
| 17 | g.17798165A>C | CA498425687 | RAI1 | c.5217A>C (p.Thr1739=) c.4881A>C (p.Thr1627=) | |
| 17 | g.17798165A>G | CA498425688 | RAI1 | c.5217A>G (p.Thr1739=) c.4881A>G (p.Thr1627=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.17798165A>T | CA498425689 | RAI1 | c.5217A>T (p.Thr1739=) c.4881A>T (p.Thr1627=) | |
| 17 | g.17798166_17798167insAAAAACCAAACACACCCAAC | CA2808653740 | RAI1 | c.5218_5219insAAAAACCAAACACACCCAAC (p.Leu1740GlnfsTer?) c.4882_4883insAAAAACCAAACACACCCAAC (p.Leu1628GlnfsTer?) | |
| 17 | g.17798166C>A | CA398558615 | RAI1 | c.5218C>A (p.Leu1740Ile) c.4882C>A (p.Leu1628Ile) | |
| 17 | g.17798166C>G | CA398558616 | RAI1 | c.5218C>G (p.Leu1740Val) c.4882C>G (p.Leu1628Val) | |
| 17 | g.17798166C>T | CA398558618 | RAI1 | c.5218C>T (p.Leu1740Phe) c.4882C>T (p.Leu1628Phe) | |
| 17 | g.17798167T>A | CA398558619 | RAI1 | c.5219T>A (p.Leu1740His) c.4883T>A (p.Leu1628His) | |
| 17 | g.17798167T>C | CA398558620 | RAI1 | c.5219T>C (p.Leu1740Pro) c.4883T>C (p.Leu1628Pro) | |
| 17 | g.17798167T>G | CA8419111 | RAI1 | c.5219T>G (p.Leu1740Arg) c.4883T>G (p.Leu1628Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798167T= | CA2250696721 | RAI1 | c.5219T= (p.Leu1740=) c.4883T= (p.Leu1628=) | |
| 17 | g.17798168C>A | CA498425691 | RAI1 | c.5220C>A (p.Leu1740=) c.4884C>A (p.Leu1628=) | gnomAD v4 |
| 17 | g.17798168C= | CA2250696726 | RAI1 | c.5220C= (p.Leu1740=) c.4884C= (p.Leu1628=) | |
| 17 | g.17798168C>G | CA288371858 | RAI1 | c.5220C>G (p.Leu1740=) c.4884C>G (p.Leu1628=) | dbSNP gnomAD v4 |
| 17 | g.17798168C>T | CA498425690 | RAI1 | c.5220C>T (p.Leu1740=) c.4884C>T (p.Leu1628=) | gnomAD v4 |
| 17 | g.17798169A>C | CA398558623 | RAI1 | c.5221A>C (p.Lys1741Gln) c.4885A>C (p.Lys1629Gln) | |
| 17 | g.17798169A>G | CA398558624 | RAI1 | c.5221A>G (p.Lys1741Glu) c.4885A>G (p.Lys1629Glu) | |
| 17 | g.17798169A>T | CA398558626 | RAI1 | c.5221A>T (p.Lys1741Ter) c.4885A>T (p.Lys1629Ter) | |
| 17 | g.17798171dup | CA2739290916 | RAI1 | c.5223dup (p.Gly1742ArgfsTer17) c.4887dup (p.Gly1630ArgfsTer17) | |
| 17 | g.17798171del | CA2580092618 | RAI1 | c.5223del (p.Gly1742ValfsTer?) c.4887del (p.Gly1630ValfsTer?) | ClinVar |
| 17 | g.17798170A>C | CA398558632 | RAI1 | c.5222A>C (p.Lys1741Thr) c.4886A>C (p.Lys1629Thr) | |
| 17 | g.17798170A>G | CA398558628 | RAI1 | c.5222A>G (p.Lys1741Arg) c.4886A>G (p.Lys1629Arg) | gnomAD v4 |
| 17 | g.17798170A>T | CA398558630 | RAI1 | c.5222A>T (p.Lys1741Ile) c.4886A>T (p.Lys1629Ile) | |
| 17 | g.17798171A>C | CA398558633 | RAI1 | c.5223A>C (p.Lys1741Asn) c.4887A>C (p.Lys1629Asn) | |
| 17 | g.17798171A>G | CA498425692 | RAI1 | c.5223A>G (p.Lys1741=) c.4887A>G (p.Lys1629=) | |
| 17 | g.17798171A>T | CA398558634 | RAI1 | c.5223A>T (p.Lys1741Asn) c.4887A>T (p.Lys1629Asn) | |
| 17 | g.17798171_17798172insCCCAAACACACCCAACACA | CA2808653741 | RAI1 | c.5223_5224insCCCAAACACACCCAACACA (p.Gly1742ProfsTer23) c.4887_4888insCCCAAACACACCCAACACA (p.Gly1630ProfsTer23) | |
| 17 | g.17798172G>A | CA8419112 | RAI1 | c.5224G>A (p.Gly1742Ser) c.4888G>A (p.Gly1630Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798172G>C | CA398558635 | RAI1 | c.5224G>C (p.Gly1742Arg) c.4888G>C (p.Gly1630Arg) | |
| 17 | g.17798172G= | CA2250696736 | RAI1 | c.5224G= (p.Gly1742=) c.4888G= (p.Gly1630=) | |
| 17 | g.17798172G>T | CA398558636 | RAI1 | c.5224G>T (p.Gly1742Cys) c.4888G>T (p.Gly1630Cys) | ClinVar dbSNP |
| 17 | g.17798173G>A | CA398558638 | RAI1 | c.5225G>A (p.Gly1742Asp) c.4889G>A (p.Gly1630Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.17798173G>C | CA398558639 | RAI1 | c.5225G>C (p.Gly1742Ala) c.4889G>C (p.Gly1630Ala) | |
| 17 | g.17798173G= | CA2250696748 | RAI1 | c.5225G= (p.Gly1742=) c.4889G= (p.Gly1630=) | |
| 17 | g.17798173G>T | CA8419113 | RAI1 | c.5225G>T (p.Gly1742Val) c.4889G>T (p.Gly1630Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798174T>A | CA498425693 | RAI1 | c.5226T>A (p.Gly1742=) c.4890T>A (p.Gly1630=) | |
| 17 | g.17798174T>C | CA498425694 | RAI1 | c.5226T>C (p.Gly1742=) c.4890T>C (p.Gly1630=) | |
| 17 | g.17798174T>G | CA498425695 | RAI1 | c.5226T>G (p.Gly1742=) c.4890T>G (p.Gly1630=) | |
| 17 | g.17798174_17798176del | CA2808653742 | RAI1 | c.5226_5228del (p.Pro1743del) c.4890_4892del (p.Pro1631del) | |
| 17 | g.17798175C>A | CA398558642 | RAI1 | c.5227C>A (p.Pro1743Thr) c.4891C>A (p.Pro1631Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798175C= | CA2250696756 | RAI1 | c.5227C= (p.Pro1743=) c.4891C= (p.Pro1631=) | |
| 17 | g.17798175C>G | CA398558644 | RAI1 | c.5227C>G (p.Pro1743Ala) c.4891C>G (p.Pro1631Ala) | |
| 17 | g.17798175C>T | CA8419114 | RAI1 | c.5227C>T (p.Pro1743Ser) c.4891C>T (p.Pro1631Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798176C>A | CA398558648 | RAI1 | c.5228C>A (p.Pro1743His) c.4892C>A (p.Pro1631His) | |
| 17 | g.17798176C= | CA2250696760 | RAI1 | c.5228C= (p.Pro1743=) c.4892C= (p.Pro1631=) | |
| 17 | g.17798176C>G | CA398558647 | RAI1 | c.5228C>G (p.Pro1743Arg) c.4892C>G (p.Pro1631Arg) | |
| 17 | g.17798176C>T | CA8419115 | RAI1 | c.5228C>T (p.Pro1743Leu) c.4892C>T (p.Pro1631Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798177C>A | CA498425697 | RAI1 | c.5229C>A (p.Pro1743=) c.4893C>A (p.Pro1631=) | |
| 17 | g.17798177C= | CA2250696768 | RAI1 | c.5229C= (p.Pro1743=) c.4893C= (p.Pro1631=) | |
| 17 | g.17798177C>G | CA8419116 | RAI1 | c.5229C>G (p.Pro1743=) c.4893C>G (p.Pro1631=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798177C>T | CA288371881 | RAI1 | c.5229C>T (p.Pro1743=) c.4893C>T (p.Pro1631=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798177_17798178insTTT | CA2808653743 | RAI1 | c.5229_5230insTTT (p.Pro1743_Glu1744insPhe) c.4893_4894insTTT (p.Pro1631_Glu1632insPhe) | |
| 17 | g.17798178G>A | CA398558653 | RAI1 | c.5230G>A (p.Glu1744Lys) c.4894G>A (p.Glu1632Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798178G>C | CA398558651 | RAI1 | c.5230G>C (p.Glu1744Gln) c.4894G>C (p.Glu1632Gln) | gnomAD v4 |
| 17 | g.17798178G= | CA2250696772 | RAI1 | c.5230G= (p.Glu1744=) c.4894G= (p.Glu1632=) | |
| 17 | g.17798178G>T | CA398558655 | RAI1 | c.5230G>T (p.Glu1744Ter) c.4894G>T (p.Glu1632Ter) | |
| 17 | g.17798179A>C | CA398558657 | RAI1 | c.5231A>C (p.Glu1744Ala) c.4895A>C (p.Glu1632Ala) | |
| 17 | g.17798179A>G | CA398558660 | RAI1 | c.5231A>G (p.Glu1744Gly) c.4895A>G (p.Glu1632Gly) | |
| 17 | g.17798179A>T | CA398558659 | RAI1 | c.5231A>T (p.Glu1744Val) c.4895A>T (p.Glu1632Val) | |
| 17 | g.17798180G>A | CA8419117 | RAI1 | c.5232G>A (p.Glu1744=) c.4896G>A (p.Glu1632=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798180G>C | CA398558664 | RAI1 | c.5232G>C (p.Glu1744Asp) c.4896G>C (p.Glu1632Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798180G= | CA2250696777 | RAI1 | c.5232G= (p.Glu1744=) c.4896G= (p.Glu1632=) | |
| 17 | g.17798180G>T | CA398558663 | RAI1 | c.5232G>T (p.Glu1744Asp) c.4896G>T (p.Glu1632Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798181T>A | CA398558666 | RAI1 | c.5233T>A (p.Cys1745Ser) c.4897T>A (p.Cys1633Ser) | |
| 17 | g.17798181T>C | CA398558667 | RAI1 | c.5233T>C (p.Cys1745Arg) c.4897T>C (p.Cys1633Arg) | |
| 17 | g.17798181T>G | CA398558669 | RAI1 | c.5233T>G (p.Cys1745Gly) c.4897T>G (p.Cys1633Gly) | |
| 17 | g.17798182G>A | CA398558671 | RAI1 | c.5234G>A (p.Cys1745Tyr) c.4898G>A (p.Cys1633Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798182G>C | CA398558673 | RAI1 | c.5234G>C (p.Cys1745Ser) c.4898G>C (p.Cys1633Ser) | |
| 17 | g.17798182G= | CA2250696784 | RAI1 | c.5234G= (p.Cys1745=) c.4898G= (p.Cys1633=) | |
| 17 | g.17798182G>T | CA398558674 | RAI1 | c.5234G>T (p.Cys1745Phe) c.4898G>T (p.Cys1633Phe) | |
| 17 | g.17798183T>A | CA398558677 | RAI1 | c.5235T>A (p.Cys1745Ter) c.4899T>A (p.Cys1633Ter) | |
| 17 | g.17798183T>C | CA498425704 | RAI1 | c.5235T>C (p.Cys1745=) c.4899T>C (p.Cys1633=) | |
| 17 | g.17798183T>G | CA8419118 | RAI1 | c.5235T>G (p.Cys1745Trp) c.4899T>G (p.Cys1633Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798183T= | CA2250696791 | RAI1 | c.5235T= (p.Cys1745=) c.4899T= (p.Cys1633=) | |
| 17 | g.17798184G>A | CA398558679 | RAI1 | c.5236G>A (p.Ala1746Thr) c.4900G>A (p.Ala1634Thr) | |
| 17 | g.17798184G>C | CA398558680 | RAI1 | c.5236G>C (p.Ala1746Pro) c.4900G>C (p.Ala1634Pro) | |
| 17 | g.17798184G>T | CA398558682 | RAI1 | c.5236G>T (p.Ala1746Ser) c.4900G>T (p.Ala1634Ser) | |
| 17 | g.17798185C>A | CA398558683 | RAI1 | c.5237C>A (p.Ala1746Glu) c.4901C>A (p.Ala1634Glu) | |
| 17 | g.17798185C= | CA2250696796 | RAI1 | c.5237C= (p.Ala1746=) c.4901C= (p.Ala1634=) | |
| 17 | g.17798185C>G | CA398558684 | RAI1 | c.5237C>G (p.Ala1746Gly) c.4901C>G (p.Ala1634Gly) | dbSNP |
| 17 | g.17798185C>T | CA288371892 | RAI1 | c.5237C>T (p.Ala1746Val) c.4901C>T (p.Ala1634Val) | dbSNP COSMIC |
| 17 | g.17798186A= | CA2250696800 | RAI1 | c.5238A= (p.Ala1746=) c.4902A= (p.Ala1634=) | |
| 17 | g.17798186A>C | CA498425707 | RAI1 | c.5238A>C (p.Ala1746=) c.4902A>C (p.Ala1634=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798186A>G | CA498425709 | RAI1 | c.5238A>G (p.Ala1746=) c.4902A>G (p.Ala1634=) | |
| 17 | g.17798186A>T | CA498425711 | RAI1 | c.5238A>T (p.Ala1746=) c.4902A>T (p.Ala1634=) | gnomAD v4 |
| 17 | g.17798187G>A | CA398558691 | RAI1 | c.5239G>A (p.Ala1747Thr) c.4903G>A (p.Ala1635Thr) | |
| 17 | g.17798187G>C | CA398558688 | RAI1 | c.5239G>C (p.Ala1747Pro) c.4903G>C (p.Ala1635Pro) | |
| 17 | g.17798187G>T | CA398558689 | RAI1 | c.5239G>T (p.Ala1747Ser) c.4903G>T (p.Ala1635Ser) | |
| 17 | g.17798188C>A | CA398558692 | RAI1 | c.5240C>A (p.Ala1747Asp) c.4904C>A (p.Ala1635Asp) | |
| 17 | g.17798188C>G | CA398558693 | RAI1 | c.5240C>G (p.Ala1747Gly) c.4904C>G (p.Ala1635Gly) | |
| 17 | g.17798188C>T | CA398558694 | RAI1 | c.5240C>T (p.Ala1747Val) c.4904C>T (p.Ala1635Val) | |
| 17 | g.17798189T>A | CA498425712 | RAI1 | c.5241T>A (p.Ala1747=) c.4905T>A (p.Ala1635=) | |
| 17 | g.17798189T>C | CA498425716 | RAI1 | c.5241T>C (p.Ala1747=) c.4905T>C (p.Ala1635=) | |
| 17 | g.17798189T>G | CA498425714 | RAI1 | c.5241T>G (p.Ala1747=) c.4905T>G (p.Ala1635=) | |
| 17 | g.17798190G>A | CA398558695 | RAI1 | c.5242G>A (p.Ala1748Thr) c.4906G>A (p.Ala1636Thr) | gnomAD v4 COSMIC |
| 17 | g.17798190G>C | CA8419119 | RAI1 | c.5242G>C (p.Ala1748Pro) c.4906G>C (p.Ala1636Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798190G= | CA2250696807 | RAI1 | c.5242G= (p.Ala1748=) c.4906G= (p.Ala1636=) | |
| 17 | g.17798190G>T | CA398558697 | RAI1 | c.5242G>T (p.Ala1748Ser) c.4906G>T (p.Ala1636Ser) | |
| 17 | g.17798191C>A | CA398558700 | RAI1 | c.5243C>A (p.Ala1748Asp) c.4907C>A (p.Ala1636Asp) | |
| 17 | g.17798191C= | CA2250696808 | RAI1 | c.5243C= (p.Ala1748=) c.4907C= (p.Ala1636=) | |
| 17 | g.17798191C>G | CA398558702 | RAI1 | c.5243C>G (p.Ala1748Gly) c.4907C>G (p.Ala1636Gly) | |
| 17 | g.17798191C>T | CA8419120 | RAI1 | c.5243C>T (p.Ala1748Val) c.4907C>T (p.Ala1636Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798192C>A | CA498425718 | RAI1 | c.5244C>A (p.Ala1748=) c.4908C>A (p.Ala1636=) | |
| 17 | g.17798192C= | CA2250696811 | RAI1 | c.5244C= (p.Ala1748=) c.4908C= (p.Ala1636=) | |
| 17 | g.17798192C>G | CA498425720 | RAI1 | c.5244C>G (p.Ala1748=) c.4908C>G (p.Ala1636=) | |
| 17 | g.17798192C>T | CA8419121 | RAI1 | c.5244C>T (p.Ala1748=) c.4908C>T (p.Ala1636=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798193G>A | CA8419122 | RAI1 | c.5245G>A (p.Ala1749Thr) c.4909G>A (p.Ala1637Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798193G>C | CA398558706 | RAI1 | c.5245G>C (p.Ala1749Pro) c.4909G>C (p.Ala1637Pro) | |
| 17 | g.17798193G= | CA2250696824 | RAI1 | c.5245G= (p.Ala1749=) c.4909G= (p.Ala1637=) | |
| 17 | g.17798193G>T | CA398558707 | RAI1 | c.5245G>T (p.Ala1749Ser) c.4909G>T (p.Ala1637Ser) | dbSNP gnomAD v4 |
| 17 | g.17798194C>A | CA398558712 | RAI1 | c.5246C>A (p.Ala1749Asp) c.4910C>A (p.Ala1637Asp) | |
| 17 | g.17798194C>G | CA398558709 | RAI1 | c.5246C>G (p.Ala1749Gly) c.4910C>G (p.Ala1637Gly) | |
| 17 | g.17798194C>T | CA398558710 | RAI1 | c.5246C>T (p.Ala1749Val) c.4910C>T (p.Ala1637Val) | gnomAD v4 |
| 17 | g.17798194_17798195insATCTTCTGCTGCCACCAC | CA2808653744 | RAI1 | c.5246_5247insATCTTCTGCTGCCACCAC (p.Ala1749_Thr1750insSerSerAlaAlaThrThr) c.4910_4911insATCTTCTGCTGCCACCAC (p.Ala1637_Thr1638insSerSerAlaAlaThrThr) | |
| 17 | g.17798195C>A | CA498425724 | RAI1 | c.5247C>A (p.Ala1749=) c.4911C>A (p.Ala1637=) | |
| 17 | g.17798195C>G | CA498425726 | RAI1 | c.5247C>G (p.Ala1749=) c.4911C>G (p.Ala1637=) | |
| 17 | g.17798195C>T | CA498425728 | RAI1 | c.5247C>T (p.Ala1749=) c.4911C>T (p.Ala1637=) | gnomAD v4 |
| 17 | g.17798196A>C | CA398558713 | RAI1 | c.5248A>C (p.Thr1750Pro) c.4912A>C (p.Thr1638Pro) | |
| 17 | g.17798196A>G | CA398558714 | RAI1 | c.5248A>G (p.Thr1750Ala) c.4912A>G (p.Thr1638Ala) | |
| 17 | g.17798196A>T | CA398558715 | RAI1 | c.5248A>T (p.Thr1750Ser) c.4912A>T (p.Thr1638Ser) | |
| 17 | g.17798197C>A | CA398558716 | RAI1 | c.5249C>A (p.Thr1750Asn) c.4913C>A (p.Thr1638Asn) | |
| 17 | g.17798197C>G | CA398558718 | RAI1 | c.5249C>G (p.Thr1750Ser) c.4913C>G (p.Thr1638Ser) | gnomAD v4 |
| 17 | g.17798197C>T | CA398558719 | RAI1 | c.5249C>T (p.Thr1750Ile) c.4913C>T (p.Thr1638Ile) | |
| 17 | g.17798198T>A | CA498425729 | RAI1 | c.5250T>A (p.Thr1750=) c.4914T>A (p.Thr1638=) | |
| 17 | g.17798198T>C | CA498425731 | RAI1 | c.5250T>C (p.Thr1750=) c.4914T>C (p.Thr1638=) | |
| 17 | g.17798198T>G | CA498425733 | RAI1 | c.5250T>G (p.Thr1750=) c.4914T>G (p.Thr1638=) | |
| 17 | g.17798199G>A | CA398558721 | RAI1 | c.5251G>A (p.Ala1751Thr) c.4915G>A (p.Ala1639Thr) | dbSNP gnomAD v2 |
| 17 | g.17798199G>C | CA398558722 | RAI1 | c.5251G>C (p.Ala1751Pro) c.4915G>C (p.Ala1639Pro) | |
| 17 | g.17798199G= | CA2250696835 | RAI1 | c.5251G= (p.Ala1751=) c.4915G= (p.Ala1639=) | |
| 17 | g.17798199G>T | CA398558724 | RAI1 | c.5251G>T (p.Ala1751Ser) c.4915G>T (p.Ala1639Ser) | |
| 17 | g.17798200C>A | CA398558726 | RAI1 | c.5252C>A (p.Ala1751Asp) c.4916C>A (p.Ala1639Asp) | |
| 17 | g.17798200C= | CA2250696839 | RAI1 | c.5252C= (p.Ala1751=) c.4916C= (p.Ala1639=) | |
| 17 | g.17798200C>G | CA398558728 | RAI1 | c.5252C>G (p.Ala1751Gly) c.4916C>G (p.Ala1639Gly) | |
| 17 | g.17798200C>T | CA398558729 | RAI1 | c.5252C>T (p.Ala1751Val) c.4916C>T (p.Ala1639Val) | dbSNP gnomAD v2 |
| 17 | g.17798201C>A | CA498425735 | RAI1 | c.5253C>A (p.Ala1751=) c.4917C>A (p.Ala1639=) | gnomAD v4 |
| 17 | g.17798201C= | CA2250696845 | RAI1 | c.5253C= (p.Ala1751=) c.4917C= (p.Ala1639=) | |
| 17 | g.17798201C>G | CA498425736 | RAI1 | c.5253C>G (p.Ala1751=) c.4917C>G (p.Ala1639=) | |
| 17 | g.17798201C>T | CA8419123 | RAI1 | c.5253C>T (p.Ala1751=) c.4917C>T (p.Ala1639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798202G>A | CA207965 | RAI1 | c.5254G>A (p.Gly1752Arg) c.4918G>A (p.Gly1640Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.17798202G>C | CA398558731 | RAI1 | c.5254G>C (p.Gly1752Arg) c.4918G>C (p.Gly1640Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798202G= | CA2250696859 | RAI1 | c.5254G= (p.Gly1752=) c.4918G= (p.Gly1640=) | |
| 17 | g.17798202G>T | CA398558732 | RAI1 | c.5254G>T (p.Gly1752Trp) c.4918G>T (p.Gly1640Trp) | gnomAD v4 |
| 17 | g.17798204_17798216del | CA2695224479 | RAI1 | c.5256_5268del (p.Lys1753LeufsTer?) c.4920_4932del (p.Lys1641LeufsTer?) | |
| 17 | g.17798203G>A | CA398558734 | RAI1 | c.5255G>A (p.Gly1752Glu) c.4919G>A (p.Gly1640Glu) | |
| 17 | g.17798203G>C | CA398558736 | RAI1 | c.5255G>C (p.Gly1752Ala) c.4919G>C (p.Gly1640Ala) | dbSNP |
| 17 | g.17798203G= | CA2250696870 | RAI1 | c.5255G= (p.Gly1752=) c.4919G= (p.Gly1640=) | |
| 17 | g.17798203G>T | CA398558737 | RAI1 | c.5255G>T (p.Gly1752Val) c.4919G>T (p.Gly1640Val) | gnomAD v4 |
| 17 | g.17798204G>A | CA498425742 | RAI1 | c.5256G>A (p.Gly1752=) c.4920G>A (p.Gly1640=) | |
| 17 | g.17798204G>C | CA498425743 | RAI1 | c.5256G>C (p.Gly1752=) c.4920G>C (p.Gly1640=) | |
| 17 | g.17798204G= | CA2250696874 | RAI1 | c.5256G= (p.Gly1752=) c.4920G= (p.Gly1640=) | |
| 17 | g.17798204G>T | CA288371911 | RAI1 | c.5256G>T (p.Gly1752=) c.4920G>T (p.Gly1640=) | dbSNP |
| 17 | g.17798205A>C | CA398558738 | RAI1 | c.5257A>C (p.Lys1753Gln) c.4921A>C (p.Lys1641Gln) | |
| 17 | g.17798205A>G | CA398558739 | RAI1 | c.5257A>G (p.Lys1753Glu) c.4921A>G (p.Lys1641Glu) | |
| 17 | g.17798205A>T | CA398558740 | RAI1 | c.5257A>T (p.Lys1753Ter) c.4921A>T (p.Lys1641Ter) | |
| 17 | g.17798206A>C | CA398558742 | RAI1 | c.5258A>C (p.Lys1753Thr) c.4922A>C (p.Lys1641Thr) | |
| 17 | g.17798206A>G | CA398558744 | RAI1 | c.5258A>G (p.Lys1753Arg) c.4922A>G (p.Lys1641Arg) | |
| 17 | g.17798206A>T | CA398558745 | RAI1 | c.5258A>T (p.Lys1753Met) c.4922A>T (p.Lys1641Met) | |
| 17 | g.17798207G>A | CA498425747 | RAI1 | c.5259G>A (p.Lys1753=) c.4923G>A (p.Lys1641=) | |
| 17 | g.17798207G>C | CA398558747 | RAI1 | c.5259G>C (p.Lys1753Asn) c.4923G>C (p.Lys1641Asn) | |
| 17 | g.17798207G>T | CA398558749 | RAI1 | c.5259G>T (p.Lys1753Asn) c.4923G>T (p.Lys1641Asn) | |
| 17 | g.17798207_17798208delinsGC | CA2250696892 | RAI1 | c.5259_5260delinsGC (p.Lys1753=) c.4923_4924delinsGC (p.Lys1641=) | |
| 17 | g.17798208C>A | CA398558752 | RAI1 | c.5260C>A (p.Pro1754Thr) c.4924C>A (p.Pro1642Thr) | |
| 17 | g.17798208C>G | CA398558757 | RAI1 | c.5260C>G (p.Pro1754Ala) c.4924C>G (p.Pro1642Ala) | |
| 17 | g.17798208C>T | CA398558755 | RAI1 | c.5260C>T (p.Pro1754Ser) c.4924C>T (p.Pro1642Ser) | gnomAD v4 |
| 17 | g.17798213dup | CA2580092620 | RAI1 | c.5265dup (p.Arg1756GlnfsTer3) c.4929dup (p.Arg1644GlnfsTer3) | ClinVar |
| 17 | g.17798213del | CA288371915 | RAI1 | c.5265del (p.Arg1756GlyfsTer?) c.4929del (p.Arg1644GlyfsTer?) | ClinVar dbSNP |
| 17 | g.17798209C>A | CA398558758 | RAI1 | c.5261C>A (p.Pro1754His) c.4925C>A (p.Pro1642His) | |
| 17 | g.17798209C>G | CA398558760 | RAI1 | c.5261C>G (p.Pro1754Arg) c.4925C>G (p.Pro1642Arg) | gnomAD v4 |
| 17 | g.17798209C>T | CA398558761 | RAI1 | c.5261C>T (p.Pro1754Leu) c.4925C>T (p.Pro1642Leu) | |
| 17 | g.17798210C>A | CA498425748 | RAI1 | c.5262C>A (p.Pro1754=) c.4926C>A (p.Pro1642=) | |
| 17 | g.17798210C>G | CA498425750 | RAI1 | c.5262C>G (p.Pro1754=) c.4926C>G (p.Pro1642=) | |
| 17 | g.17798210C>T | CA498425749 | RAI1 | c.5262C>T (p.Pro1754=) c.4926C>T (p.Pro1642=) | |
| 17 | g.17798211C>A | CA398558763 | RAI1 | c.5263C>A (p.Pro1755Thr) c.4927C>A (p.Pro1643Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798211C= | CA2250696902 | RAI1 | c.5263C= (p.Pro1755=) c.4927C= (p.Pro1643=) | |
| 17 | g.17798211C>G | CA398558765 | RAI1 | c.5263C>G (p.Pro1755Ala) c.4927C>G (p.Pro1643Ala) | |
| 17 | g.17798211C>T | CA8419124 | RAI1 | c.5263C>T (p.Pro1755Ser) c.4927C>T (p.Pro1643Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798212C>A | CA8419125 | RAI1 | c.5264C>A (p.Pro1755His) c.4928C>A (p.Pro1643His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17798212C= | CA2250696908 | RAI1 | c.5264C= (p.Pro1755=) c.4928C= (p.Pro1643=) | |
| 17 | g.17798212C>G | CA398558767 | RAI1 | c.5264C>G (p.Pro1755Arg) c.4928C>G (p.Pro1643Arg) | |
| 17 | g.17798212C>T | CA398558769 | RAI1 | c.5264C>T (p.Pro1755Leu) c.4928C>T (p.Pro1643Leu) | |
| 17 | g.17798213C>A | CA288371935 | RAI1 | c.5265C>A (p.Pro1755=) c.4929C>A (p.Pro1643=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798213C= | CA2250696923 | RAI1 | c.5265C= (p.Pro1755=) c.4929C= (p.Pro1643=) | |
| 17 | g.17798213C>G | CA288371932 | RAI1 | c.5265C>G (p.Pro1755=) c.4929C>G (p.Pro1643=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798213C>T | CA8419126 | RAI1 | c.5265C>T (p.Pro1755=) c.4929C>T (p.Pro1643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798214A>C | CA498425754 | RAI1 | c.5266A>C (p.Arg1756=) c.4930A>C (p.Arg1644=) | |
| 17 | g.17798214A>G | CA398558771 | RAI1 | c.5266A>G (p.Arg1756Gly) c.4930A>G (p.Arg1644Gly) | |
| 17 | g.17798214A>T | CA398558773 | RAI1 | c.5266A>T (p.Arg1756Trp) c.4930A>T (p.Arg1644Trp) | |
| 17 | g.17798214_17798215delinsAG | CA2250696928 | RAI1 | c.5266_5267delinsAG (p.Arg1756=) c.4930_4931delinsAG (p.Arg1644=) | |
| 17 | g.17798215G>A | CA398558777 | RAI1 | c.5267G>A (p.Arg1756Lys) c.4931G>A (p.Arg1644Lys) | |
| 17 | g.17798215G>C | CA398558776 | RAI1 | c.5267G>C (p.Arg1756Thr) c.4931G>C (p.Arg1644Thr) | |
| 17 | g.17798215G>T | CA398558774 | RAI1 | c.5267G>T (p.Arg1756Met) c.4931G>T (p.Arg1644Met) | |
| 17 | g.17798216del | CA288371938 | RAI1 | c.5268del (p.Arg1756SerfsTer?) c.4932del (p.Arg1644SerfsTer?) | dbSNP |
| 17 | g.17798216G>A | CA498425755 | RAI1 | c.5268G>A (p.Arg1756=) c.4932G>A (p.Arg1644=) | ClinVar gnomAD v4 |
| 17 | g.17798216G>C | CA398558779 | RAI1 | c.5268G>C (p.Arg1756Ser) c.4932G>C (p.Arg1644Ser) | |
| 17 | g.17798216G>T | CA398558781 | RAI1 | c.5268G>T (p.Arg1756Ser) c.4932G>T (p.Arg1644Ser) | |
| 17 | g.17798217C>A | CA398558783 | RAI1 | c.5269C>A (p.Pro1757Thr) c.4933C>A (p.Pro1645Thr) | |
| 17 | g.17798217C>G | CA398558784 | RAI1 | c.5269C>G (p.Pro1757Ala) c.4933C>G (p.Pro1645Ala) | |
| 17 | g.17798217C>T | CA398558786 | RAI1 | c.5269C>T (p.Pro1757Ser) c.4933C>T (p.Pro1645Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.17798218C>A | CA398558787 | RAI1 | c.5270C>A (p.Pro1757His) c.4934C>A (p.Pro1645His) | |
| 17 | g.17798218C>G | CA398558789 | RAI1 | c.5270C>G (p.Pro1757Arg) c.4934C>G (p.Pro1645Arg) | |
| 17 | g.17798218C>T | CA398558790 | RAI1 | c.5270C>T (p.Pro1757Leu) c.4934C>T (p.Pro1645Leu) | |
| 17 | g.17798219T>A | CA498425757 | RAI1 | c.5271T>A (p.Pro1757=) c.4935T>A (p.Pro1645=) | |
| 17 | g.17798219T>C | CA498425758 | RAI1 | c.5271T>C (p.Pro1757=) c.4935T>C (p.Pro1645=) | |
| 17 | g.17798219T>G | CA498425759 | RAI1 | c.5271T>G (p.Pro1757=) c.4935T>G (p.Pro1645=) | |
| 17 | g.17798220G>A | CA398558792 | RAI1 | c.5272G>A (p.Asp1758Asn) c.4936G>A (p.Asp1646Asn) | COSMIC |
| 17 | g.17798220G>C | CA398558794 | RAI1 | c.5272G>C (p.Asp1758His) c.4936G>C (p.Asp1646His) | ClinVar dbSNP gnomAD v4 |
| 17 | g.17798220G= | CA2250696938 | RAI1 | c.5272G= (p.Asp1758=) c.4936G= (p.Asp1646=) | |
| 17 | g.17798220G>T | CA398558795 | RAI1 | c.5272G>T (p.Asp1758Tyr) c.4936G>T (p.Asp1646Tyr) | |
| 17 | g.17798221A>C | CA398558801 | RAI1 | c.5273A>C (p.Asp1758Ala) c.4937A>C (p.Asp1646Ala) | |
| 17 | g.17798221A>G | CA398558799 | RAI1 | c.5273A>G (p.Asp1758Gly) c.4937A>G (p.Asp1646Gly) | |
| 17 | g.17798221A>T | CA398558797 | RAI1 | c.5273A>T (p.Asp1758Val) c.4937A>T (p.Asp1646Val) | |
| 17 | g.17798222C>A | CA398558802 | RAI1 | c.5274C>A (p.Asp1758Glu) c.4938C>A (p.Asp1646Glu) | |
| 17 | g.17798222C= | CA2250696940 | RAI1 | c.5274C= (p.Asp1758=) c.4938C= (p.Asp1646=) | |
| 17 | g.17798222C>G | CA398558804 | RAI1 | c.5274C>G (p.Asp1758Glu) c.4938C>G (p.Asp1646Glu) | |
| 17 | g.17798222C>T | CA8419127 | RAI1 | c.5274C>T (p.Asp1758=) c.4938C>T (p.Asp1646=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798223G>A | CA8419128 | RAI1 | c.5275G>A (p.Gly1759Ser) c.4939G>A (p.Gly1647Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17798223G>C | CA398558807 | RAI1 | c.5275G>C (p.Gly1759Arg) c.4939G>C (p.Gly1647Arg) | |
| 17 | g.17798223G= | CA2250696943 | RAI1 | c.5275G= (p.Gly1759=) c.4939G= (p.Gly1647=) | |
| 17 | g.17798223G>T | CA398558808 | RAI1 | c.5275G>T (p.Gly1759Cys) c.4939G>T (p.Gly1647Cys) | |
| 17 | g.17798224G>A | CA398558810 | RAI1 | c.5276G>A (p.Gly1759Asp) c.4940G>A (p.Gly1647Asp) | |
| 17 | g.17798224G>C | CA398558812 | RAI1 | c.5276G>C (p.Gly1759Ala) c.4940G>C (p.Gly1647Ala) | |
| 17 | g.17798224G>T | CA398558813 | RAI1 | c.5276G>T (p.Gly1759Val) c.4940G>T (p.Gly1647Val) | |
| 17 | g.17798225C>A | CA498425762 | RAI1 | c.5277C>A (p.Gly1759=) c.4941C>A (p.Gly1647=) | |
| 17 | g.17798225C= | CA2250696945 | RAI1 | c.5277C= (p.Gly1759=) c.4941C= (p.Gly1647=) | |
| 17 | g.17798225C>G | CA498425763 | RAI1 | c.5277C>G (p.Gly1759=) c.4941C>G (p.Gly1647=) | |
| 17 | g.17798225C>T | CA498425765 | RAI1 | c.5277C>T (p.Gly1759=) c.4941C>T (p.Gly1647=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.17798226C>A | CA398558814 | RAI1 | c.5278C>A (p.Pro1760Thr) c.4942C>A (p.Pro1648Thr) | |
| 17 | g.17798226C= | CA2250696947 | RAI1 | c.5278C= (p.Pro1760=) c.4942C= (p.Pro1648=) | |
| 17 | g.17798226C>G | CA398558816 | RAI1 | c.5278C>G (p.Pro1760Ala) c.4942C>G (p.Pro1648Ala) | |
| 17 | g.17798226C>T | CA398558818 | RAI1 | c.5278C>T (p.Pro1760Ser) c.4942C>T (p.Pro1648Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17798227C>A | CA398558823 | RAI1 | c.5279C>A (p.Pro1760Gln) c.4943C>A (p.Pro1648Gln) | |
| 17 | g.17798227C>G | CA398558820 | RAI1 | c.5279C>G (p.Pro1760Arg) c.4943C>G (p.Pro1648Arg) | |
| 17 | g.17798227C>T | CA398558821 | RAI1 | c.5279C>T (p.Pro1760Leu) c.4943C>T (p.Pro1648Leu) | gnomAD v4 |
| 17 | g.17798228A= | CA2250696950 | RAI1 | c.5280A= (p.Pro1760=) c.4944A= (p.Pro1648=) | |
| 17 | g.17798228A>C | CA498425766 | RAI1 | c.5280A>C (p.Pro1760=) c.4944A>C (p.Pro1648=) | |
| 17 | g.17798228A>G | CA288371964 | RAI1 | c.5280A>G (p.Pro1760=) c.4944A>G (p.Pro1648=) | dbSNP |
| 17 | g.17798228A>T | CA498425767 | RAI1 | c.5280A>T (p.Pro1760=) c.4944A>T (p.Pro1648=) | ClinVar |
| 17 | g.17798229G>A | CA398558825 | RAI1 | c.5281G>A (p.Ala1761Thr) c.4945G>A (p.Ala1649Thr) | |
| 17 | g.17798229G>C | CA398558826 | RAI1 | c.5281G>C (p.Ala1761Pro) c.4945G>C (p.Ala1649Pro) | |
| 17 | g.17798229G>T | CA398558828 | RAI1 | c.5281G>T (p.Ala1761Ser) c.4945G>T (p.Ala1649Ser) | |
| 17 | g.17798230C>A | CA398558830 | RAI1 | c.5282C>A (p.Ala1761Asp) c.4946C>A (p.Ala1649Asp) | |
| 17 | g.17798230C= | CA2250696953 | RAI1 | c.5282C= (p.Ala1761=) c.4946C= (p.Ala1649=) | |
| 17 | g.17798230C>G | CA398558831 | RAI1 | c.5282C>G (p.Ala1761Gly) c.4946C>G (p.Ala1649Gly) | |
| 17 | g.17798230C>T | CA398558833 | RAI1 | c.5282C>T (p.Ala1761Val) c.4946C>T (p.Ala1649Val) | dbSNP gnomAD v2 |
| 17 | g.17798231T>A | CA498425768 | RAI1 | c.5283T>A (p.Ala1761=) c.4947T>A (p.Ala1649=) | gnomAD v4 |
| 17 | g.17798231T>C | CA498425772 | RAI1 | c.5283T>C (p.Ala1761=) c.4947T>C (p.Ala1649=) | dbSNP gnomAD v4 |
| 17 | g.17798231T>G | CA498425770 | RAI1 | c.5283T>G (p.Ala1761=) c.4947T>G (p.Ala1649=) | |
| 17 | g.17798231T= | CA2250696956 | RAI1 | c.5283T= (p.Ala1761=) c.4947T= (p.Ala1649=) | |
| 17 | g.17798232G>A | CA398558835 | RAI1 | c.5284G>A (p.Asp1762Asn) c.4948G>A (p.Asp1650Asn) | |
| 17 | g.17798232G>C | CA398558836 | RAI1 | c.5284G>C (p.Asp1762His) c.4948G>C (p.Asp1650His) | |
| 17 | g.17798232G>T | CA398558838 | RAI1 | c.5284G>T (p.Asp1762Tyr) c.4948G>T (p.Asp1650Tyr) | |
| 17 | g.17798233A>C | CA398558840 | RAI1 | c.5285A>C (p.Asp1762Ala) c.4949A>C (p.Asp1650Ala) | |
| 17 | g.17798233A>G | CA398558841 | RAI1 | c.5285A>G (p.Asp1762Gly) c.4949A>G (p.Asp1650Gly) | |
| 17 | g.17798233A>T | CA398558843 | RAI1 | c.5285A>T (p.Asp1762Val) c.4949A>T (p.Asp1650Val) | |
| 17 | g.17798234C>A | CA398558847 | RAI1 | c.5286C>A (p.Asp1762Glu) c.4950C>A (p.Asp1650Glu) | |
| 17 | g.17798234C>G | CA398558845 | RAI1 | c.5286C>G (p.Asp1762Glu) c.4950C>G (p.Asp1650Glu) | |
| 17 | g.17798234C>T | CA498425778 | RAI1 | c.5286C>T (p.Asp1762=) c.4950C>T (p.Asp1650=) | |
| 17 | g.17798235C>A | CA398558848 | RAI1 | c.5287C>A (p.Pro1763Thr) c.4951C>A (p.Pro1651Thr) | gnomAD v4 |
| 17 | g.17798235C>G | CA398558851 | RAI1 | c.5287C>G (p.Pro1763Ala) c.4951C>G (p.Pro1651Ala) | |
| 17 | g.17798235C>T | CA398558850 | RAI1 | c.5287C>T (p.Pro1763Ser) c.4951C>T (p.Pro1651Ser) | gnomAD v4 |