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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.75009088A>C | CA390430422 | EIF2B2 | c.956A>C (p.Glu319Ala) n.536A>C | |
| 14 | g.75009088A>G | CA390430427 | EIF2B2 | c.956A>G (p.Glu319Gly) n.536A>G | |
| 14 | g.75009088A>T | CA390430433 | EIF2B2 | c.956A>T (p.Glu319Val) n.536A>T | |
| 14 | g.75009089G>A | CA487178842 | EIF2B2 | c.957G>A (p.Glu319=) n.537G>A | |
| 14 | g.75009089G>C | CA390430437 | EIF2B2 | c.957G>C (p.Glu319Asp) n.537G>C | |
| 14 | g.75009089G>T | CA390430447 | EIF2B2 | c.957G>T (p.Glu319Asp) n.537G>T | gnomAD v4 |
| 14 | g.75009090C>A | CA390430453 | EIF2B2 | c.958C>A (p.Leu320Ile) n.538C>A | |
| 14 | g.75009090C>G | CA390430457 | EIF2B2 | c.958C>G (p.Leu320Val) n.538C>G | gnomAD v4 |
| 14 | g.75009090C>T | CA390430461 | EIF2B2 | c.958C>T (p.Leu320Phe) n.538C>T | |
| 14 | g.75009090_75009094del | CA2625725663 | EIF2B2 | c.958_962del (p.Leu320TyrfsTer21) n.538_542del | gnomAD v4 |
| 14 | g.75009091T>A | CA390430470 | EIF2B2 | c.959T>A (p.Leu320His) n.539T>A | |
| 14 | g.75009091T>C | CA390430469 | EIF2B2 | c.959T>C (p.Leu320Pro) n.539T>C | COSMIC |
| 14 | g.75009091T>G | CA390430466 | EIF2B2 | c.959T>G (p.Leu320Arg) n.539T>G | |
| 14 | g.75009092C>A | CA487178843 | EIF2B2 | c.960C>A (p.Leu320=) n.540C>A | |
| 14 | g.75009092C= | CA2147300744 | EIF2B2 | c.960C= (p.Leu320=) n.540C= | |
| 14 | g.75009092C>G | CA487178844 | EIF2B2 | c.960C>G (p.Leu320=) n.540C>G | |
| 14 | g.75009092C>T | CA7275117 | EIF2B2 | c.960C>T (p.Leu320=) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009093A>C | CA390430472 | EIF2B2 | c.961A>C (p.Ile321Leu) n.541A>C | gnomAD v4 |
| 14 | g.75009093A>G | CA390430471 | EIF2B2 | c.961A>G (p.Ile321Val) n.541A>G | |
| 14 | g.75009093A>T | CA390430475 | EIF2B2 | c.961A>T (p.Ile321Phe) n.541A>T | |
| 14 | g.75009094T>A | CA390430476 | EIF2B2 | c.962T>A (p.Ile321Asn) n.542T>A | |
| 14 | g.75009094T>C | CA390430488 | EIF2B2 | c.962T>C (p.Ile321Thr) n.542T>C | |
| 14 | g.75009094T>G | CA390430484 | EIF2B2 | c.962T>G (p.Ile321Ser) n.542T>G | |
| 14 | g.75009095T>A | CA487178845 | EIF2B2 | c.963T>A (p.Ile321=) n.543T>A | |
| 14 | g.75009095T>C | CA487178846 | EIF2B2 | c.963T>C (p.Ile321=) n.543T>C | |
| 14 | g.75009095T>G | CA390430494 | EIF2B2 | c.963T>G (p.Ile321Met) n.543T>G | |
| 14 | g.75009095T= | CA2147300746 | EIF2B2 | c.963T= (p.Ile321=) n.543T= | |
| 14 | g.75009095_75009098delinsTACC | CA2147300745 | EIF2B2 | c.963_966delinsTACC (p.Ile321=) n.543_546delinsTACC | |
| 14 | g.75009096A>C | CA390430514 | EIF2B2 | c.964A>C (p.Thr322Pro) n.544A>C | |
| 14 | g.75009096A>G | CA390430515 | EIF2B2 | c.964A>G (p.Thr322Ala) n.544A>G | |
| 14 | g.75009096A>T | CA390430516 | EIF2B2 | c.964A>T (p.Thr322Ser) n.544A>T | gnomAD v4 |
| 14 | g.75009096_75009098del | CA7275118 | EIF2B2 | c.964_966del (p.Thr322del) n.544_546del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009096_75009098dup | CA2147300747 | EIF2B2 | c.964_966dup (p.Thr322_Leu323insThr) n.544_546dup | dbSNP |
| 14 | g.75009097C>A | CA390430533 | EIF2B2 | c.965C>A (p.Thr322Asn) n.545C>A | |
| 14 | g.75009097C= | CA2147300748 | EIF2B2 | c.965C= (p.Thr322=) n.545C= | |
| 14 | g.75009097C>G | CA390430537 | EIF2B2 | c.965C>G (p.Thr322Ser) n.545C>G | |
| 14 | g.75009097C>T | CA390430539 | EIF2B2 | c.965C>T (p.Thr322Ile) n.545C>T | dbSNP gnomAD v4 |
| 14 | g.75009098_75009099del | CA2625725681 | EIF2B2 | c.966_967del (p.Phe324TyrfsTer18) n.546_547del | gnomAD v4 |
| 14 | g.75009098C>A | CA487178847 | EIF2B2 | c.966C>A (p.Thr322=) n.546C>A | |
| 14 | g.75009098C>G | CA487178848 | EIF2B2 | c.966C>G (p.Thr322=) n.546C>G | |
| 14 | g.75009098C>T | CA487178849 | EIF2B2 | c.966C>T (p.Thr322=) n.546C>T | |
| 14 | g.75009099C>A | CA390430542 | EIF2B2 | c.967C>A (p.Leu323Ile) n.547C>A | |
| 14 | g.75009099C= | CA2147300749 | EIF2B2 | c.967C= (p.Leu323=) n.547C= | |
| 14 | g.75009099C>G | CA390430544 | EIF2B2 | c.967C>G (p.Leu323Val) n.547C>G | |
| 14 | g.75009099C>T | CA390430545 | EIF2B2 | c.967C>T (p.Leu323Phe) n.547C>T | ClinVar dbSNP |
| 14 | g.75009100T>A | CA390430583 | EIF2B2 | c.968T>A (p.Leu323His) n.548T>A | |
| 14 | g.75009100T>C | CA390430581 | EIF2B2 | c.968T>C (p.Leu323Pro) n.548T>C | |
| 14 | g.75009100T>G | CA390430549 | EIF2B2 | c.968T>G (p.Leu323Arg) n.548T>G | |
| 14 | g.75009101C>A | CA487178851 | EIF2B2 | c.969C>A (p.Leu323=) n.549C>A | |
| 14 | g.75009101C>G | CA487178852 | EIF2B2 | c.969C>G (p.Leu323=) n.549C>G | |
| 14 | g.75009101C>T | CA487178850 | EIF2B2 | c.969C>T (p.Leu323=) n.549C>T | |
| 14 | g.75009102T>A | CA390430585 | EIF2B2 | c.970T>A (p.Phe324Ile) n.550T>A | |
| 14 | g.75009102T>C | CA390430586 | EIF2B2 | c.970T>C (p.Phe324Leu) n.550T>C | |
| 14 | g.75009102T>G | CA390430589 | EIF2B2 | c.970T>G (p.Phe324Val) n.550T>G | |
| 14 | g.75009103T>A | CA390430593 | EIF2B2 | c.971T>A (p.Phe324Tyr) n.551T>A | |
| 14 | g.75009103T>C | CA390430594 | EIF2B2 | c.971T>C (p.Phe324Ser) n.551T>C | |
| 14 | g.75009103T>G | CA390430596 | EIF2B2 | c.971T>G (p.Phe324Cys) n.551T>G | |
| 14 | g.75009104T>A | CA390430602 | EIF2B2 | c.972T>A (p.Phe324Leu) n.552T>A | |
| 14 | g.75009104T>C | CA487178853 | EIF2B2 | c.972T>C (p.Phe324=) n.552T>C | gnomAD v4 |
| 14 | g.75009104T>G | CA390430604 | EIF2B2 | c.972T>G (p.Phe324Leu) n.552T>G | |
| 14 | g.75009105A= | CA2147300750 | EIF2B2 | c.973A= (p.Ile325=) n.553A= | |
| 14 | g.75009105A>C | CA390430607 | EIF2B2 | c.973A>C (p.Ile325Leu) n.553A>C | |
| 14 | g.75009105A>G | CA7275119 | EIF2B2 | c.973A>G (p.Ile325Val) n.553A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75009105A>T | CA390430624 | EIF2B2 | c.973A>T (p.Ile325Phe) n.553A>T | |
| 14 | g.75009106T>A | CA390430636 | EIF2B2 | c.974T>A (p.Ile325Asn) n.554T>A | |
| 14 | g.75009106T>C | CA390430633 | EIF2B2 | c.974T>C (p.Ile325Thr) n.554T>C | |
| 14 | g.75009106T>G | CA390430627 | EIF2B2 | c.974T>G (p.Ile325Ser) n.554T>G | |
| 14 | g.75009107C>A | CA487178855 | EIF2B2 | c.975C>A (p.Ile325=) n.555C>A | |
| 14 | g.75009107C>G | CA390430639 | EIF2B2 | c.975C>G (p.Ile325Met) n.555C>G | |
| 14 | g.75009107C>T | CA487178854 | EIF2B2 | c.975C>T (p.Ile325=) n.555C>T | |
| 14 | g.75009108T>A | CA390430644 | EIF2B2 | c.976T>A (p.Ser326Thr) n.556T>A | |
| 14 | g.75009108T>C | CA390430662 | EIF2B2 | c.976T>C (p.Ser326Pro) n.556T>C | |
| 14 | g.75009108T>G | CA390430664 | EIF2B2 | c.976T>G (p.Ser326Ala) n.556T>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75009108T= | CA2147300751 | EIF2B2 | c.976T= (p.Ser326=) n.556T= | |
| 14 | g.75009109C>A | CA390430668 | EIF2B2 | c.977C>A (p.Ser326Tyr) n.557C>A | |
| 14 | g.75009109C>G | CA390430670 | EIF2B2 | c.977C>G (p.Ser326Cys) n.557C>G | |
| 14 | g.75009109C>T | CA390430674 | EIF2B2 | c.977C>T (p.Ser326Phe) n.557C>T | gnomAD v4 |
| 14 | g.75009110C>A | CA487178858 | EIF2B2 | c.978C>A (p.Ser326=) n.558C>A | |
| 14 | g.75009110C= | CA2147300752 | EIF2B2 | c.978C= (p.Ser326=) n.558C= | |
| 14 | g.75009110C>G | CA487178857 | EIF2B2 | c.978C>G (p.Ser326=) n.558C>G | |
| 14 | g.75009110C>T | CA487178856 | EIF2B2 | c.978C>T (p.Ser326=) n.558C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75009111A= | CA2147300753 | EIF2B2 | c.979A= (p.Asn327=) n.559A= | |
| 14 | g.75009111A>C | CA390430676 | EIF2B2 | c.979A>C (p.Asn327His) n.559A>C | |
| 14 | g.75009111A>G | CA390430677 | EIF2B2 | c.979A>G (p.Asn327Asp) n.559A>G | |
| 14 | g.75009111A>T | CA263656904 | EIF2B2 | c.979A>T (p.Asn327Tyr) n.559A>T | dbSNP |
| 14 | g.75009112A= | CA2147300754 | EIF2B2 | c.980A= (p.Asn327=) n.560A= | |
| 14 | g.75009112A>C | CA390430680 | EIF2B2 | c.980A>C (p.Asn327Thr) n.560A>C | |
| 14 | g.75009112A>G | CA7275120 | EIF2B2 | c.980A>G (p.Asn327Ser) n.560A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009112A>T | CA390430693 | EIF2B2 | c.980A>T (p.Asn327Ile) n.560A>T | |
| 14 | g.75009113C>A | CA390430696 | EIF2B2 | c.981C>A (p.Asn327Lys) n.561C>A | |
| 14 | g.75009113C>G | CA390430699 | EIF2B2 | c.981C>G (p.Asn327Lys) n.561C>G | |
| 14 | g.75009113C>T | CA487178860 | EIF2B2 | c.981C>T (p.Asn327=) n.561C>T | |
| 14 | g.75009114A= | CA2147300755 | EIF2B2 | c.982A= (p.Ile328=) n.562A= | |
| 14 | g.75009114A>C | CA390430702 | EIF2B2 | c.982A>C (p.Ile328Leu) n.562A>C | |
| 14 | g.75009114A>G | CA7275121 | EIF2B2 | c.982A>G (p.Ile328Val) n.562A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009114A>T | CA390430707 | EIF2B2 | c.982A>T (p.Ile328Phe) n.562A>T | |
| 14 | g.75009115T>A | CA390430710 | EIF2B2 | c.983T>A (p.Ile328Asn) n.563T>A | |
| 14 | g.75009115T>C | CA390430714 | EIF2B2 | c.983T>C (p.Ile328Thr) n.563T>C | gnomAD v4 |
| 14 | g.75009115T>G | CA390430717 | EIF2B2 | c.983T>G (p.Ile328Ser) n.563T>G | |
| 14 | g.75009116T>A | CA487178861 | EIF2B2 | c.984T>A (p.Ile328=) n.564T>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75009116T>C | CA7275122 | EIF2B2 | c.984T>C (p.Ile328=) n.564T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009116T>G | CA390430724 | EIF2B2 | c.984T>G (p.Ile328Met) n.564T>G | |
| 14 | g.75009116T= | CA2147300756 | EIF2B2 | c.984T= (p.Ile328=) n.564T= | |
| 14 | g.75009117G>A | CA390430737 | EIF2B2 | c.985G>A (p.Gly329Ser) n.565G>A | |
| 14 | g.75009117G>C | CA390430738 | EIF2B2 | c.985G>C (p.Gly329Arg) n.565G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009117G= | CA2147300757 | EIF2B2 | c.985G= (p.Gly329=) n.565G= | |
| 14 | g.75009117G>T | CA390430740 | EIF2B2 | c.985G>T (p.Gly329Cys) n.565G>T | |
| 14 | g.75009118G>A | CA390430753 | EIF2B2 | c.986G>A (p.Gly329Asp) n.566G>A | |
| 14 | g.75009118G>C | CA390430749 | EIF2B2 | c.986G>C (p.Gly329Ala) n.566G>C | gnomAD v4 |
| 14 | g.75009118G= | CA2147300758 | EIF2B2 | c.986G= (p.Gly329=) n.566G= | |
| 14 | g.75009118G>T | CA263656912 | EIF2B2 | c.986G>T (p.Gly329Val) n.566G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75009119T>A | CA487178862 | EIF2B2 | c.987T>A (p.Gly329=) n.567T>A | |
| 14 | g.75009119T>C | CA487178863 | EIF2B2 | c.987T>C (p.Gly329=) n.567T>C | |
| 14 | g.75009119T>G | CA487178864 | EIF2B2 | c.987T>G (p.Gly329=) n.567T>G | |
| 14 | g.75009120G>A | CA390430755 | EIF2B2 | c.988G>A (p.Gly330Arg) n.568G>A | |
| 14 | g.75009120G>C | CA390430763 | EIF2B2 | c.988G>C (p.Gly330Arg) n.568G>C | |
| 14 | g.75009120G>T | CA390430760 | EIF2B2 | c.988G>T (p.Gly330Trp) n.568G>T | |
| 14 | g.75009121G>A | CA390430765 | EIF2B2 | c.989G>A (p.Gly330Glu) n.569G>A | |
| 14 | g.75009121G>C | CA390430766 | EIF2B2 | c.989G>C (p.Gly330Ala) n.569G>C | |
| 14 | g.75009121G>T | CA390430767 | EIF2B2 | c.989G>T (p.Gly330Val) n.569G>T | |
| 14 | g.75009122G>A | CA487178865 | EIF2B2 | c.990G>A (p.Gly330=) n.570G>A | gnomAD v4 |
| 14 | g.75009122G>C | CA487178866 | EIF2B2 | c.990G>C (p.Gly330=) n.570G>C | |
| 14 | g.75009122G>T | CA487178867 | EIF2B2 | c.990G>T (p.Gly330=) n.570G>T | |
| 14 | g.75009123A>C | CA390430768 | EIF2B2 | c.991A>C (p.Asn331His) n.571A>C | |
| 14 | g.75009123A>G | CA390430769 | EIF2B2 | c.991A>G (p.Asn331Asp) n.571A>G | |
| 14 | g.75009123A>T | CA390430770 | EIF2B2 | c.991A>T (p.Asn331Tyr) n.571A>T | |
| 14 | g.75009124A= | CA2147300759 | EIF2B2 | c.992A= (p.Asn331=) n.572A= | |
| 14 | g.75009124A>C | CA390430773 | EIF2B2 | c.992A>C (p.Asn331Thr) n.572A>C | |
| 14 | g.75009124A>G | CA7275123 | EIF2B2 | c.992A>G (p.Asn331Ser) n.572A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75009124A>T | CA390430778 | EIF2B2 | c.992A>T (p.Asn331Ile) n.572A>T | |
| 14 | g.75009125T>A | CA390430780 | EIF2B2 | c.993T>A (p.Asn331Lys) n.573T>A | |
| 14 | g.75009125T>C | CA487178868 | EIF2B2 | c.993T>C (p.Asn331=) n.573T>C | |
| 14 | g.75009125T>G | CA390430782 | EIF2B2 | c.993T>G (p.Asn331Lys) n.573T>G | |
| 14 | g.75009126G>A | CA390430786 | EIF2B2 | c.994G>A (p.Ala332Thr) n.574G>A | |
| 14 | g.75009126G>C | CA390430784 | EIF2B2 | c.994G>C (p.Ala332Pro) n.574G>C | |
| 14 | g.75009126G>T | CA390430785 | EIF2B2 | c.994G>T (p.Ala332Ser) n.574G>T | |
| 14 | g.75009127C>A | CA390430787 | EIF2B2 | c.995C>A (p.Ala332Glu) n.575C>A | |
| 14 | g.75009127C>G | CA390430788 | EIF2B2 | c.995C>G (p.Ala332Gly) n.575C>G | |
| 14 | g.75009127C>T | CA390430792 | EIF2B2 | c.995C>T (p.Ala332Val) n.575C>T | gnomAD v4 |
| 14 | g.75009128A= | CA2147300760 | EIF2B2 | c.996A= (p.Ala332=) n.576A= | |
| 14 | g.75009128A>C | CA487178870 | EIF2B2 | c.996A>C (p.Ala332=) n.576A>C | |
| 14 | g.75009128A>G | CA487178871 | EIF2B2 | c.996A>G (p.Ala332=) n.576A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009128A>T | CA487178869 | EIF2B2 | c.996A>T (p.Ala332=) n.576A>T | |
| 14 | g.75009129C>A | CA390430795 | EIF2B2 | c.997C>A (p.Pro333Thr) n.577C>A | |
| 14 | g.75009129C>G | CA390430797 | EIF2B2 | c.997C>G (p.Pro333Ala) n.577C>G | |
| 14 | g.75009129C>T | CA390430800 | EIF2B2 | c.997C>T (p.Pro333Ser) n.577C>T | gnomAD v4 |
| 14 | g.75009130del | CA2625725745 | EIF2B2 | c.998del (p.Pro333LeufsTer7) n.578del | gnomAD v4 |
| 14 | g.75009130C>A | CA390430803 | EIF2B2 | c.998C>A (p.Pro333His) n.578C>A | |
| 14 | g.75009130C>G | CA390430811 | EIF2B2 | c.998C>G (p.Pro333Arg) n.578C>G | |
| 14 | g.75009130C>T | CA390430816 | EIF2B2 | c.998C>T (p.Pro333Leu) n.578C>T | |
| 14 | g.75009131T>A | CA7275124 | EIF2B2 | c.999T>A (p.Pro333=) n.579T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009131T>C | CA487178872 | EIF2B2 | c.999T>C (p.Pro333=) n.579T>C | |
| 14 | g.75009131T>G | CA487178873 | EIF2B2 | c.999T>G (p.Pro333=) n.579T>G | |
| 14 | g.75009131T= | CA2147300761 | EIF2B2 | c.999T= (p.Pro333=) n.579T= | |
| 14 | g.75009132T>A | CA390430835 | EIF2B2 | c.1000T>A (p.Ser334Thr) n.580T>A | |
| 14 | g.75009132T>C | CA390430837 | EIF2B2 | c.1000T>C (p.Ser334Pro) n.580T>C | |
| 14 | g.75009132T>G | CA390430833 | EIF2B2 | c.1000T>G (p.Ser334Ala) n.580T>G | |
| 14 | g.75009133C>A | CA390430842 | EIF2B2 | c.1001C>A (p.Ser334Tyr) n.581C>A | |
| 14 | g.75009133C>G | CA390430848 | EIF2B2 | c.1001C>G (p.Ser334Cys) n.581C>G | |
| 14 | g.75009133C>T | CA390430852 | EIF2B2 | c.1001C>T (p.Ser334Phe) n.581C>T | gnomAD v4 |
| 14 | g.75009134C>A | CA487178876 | EIF2B2 | c.1002C>A (p.Ser334=) n.582C>A | |
| 14 | g.75009134C= | CA2147300762 | EIF2B2 | c.1002C= (p.Ser334=) n.582C= | |
| 14 | g.75009134C>G | CA487178875 | EIF2B2 | c.1002C>G (p.Ser334=) n.582C>G | |
| 14 | g.75009134C>T | CA487178874 | EIF2B2 | c.1002C>T (p.Ser334=) n.582C>T | dbSNP gnomAD v4 |
| 14 | g.75009135T>A | CA390430856 | EIF2B2 | c.1003T>A (p.Tyr335Asn) n.583T>A | |
| 14 | g.75009135T>C | CA390430884 | EIF2B2 | c.1003T>C (p.Tyr335His) n.583T>C | |
| 14 | g.75009135T>G | CA390430887 | EIF2B2 | c.1003T>G (p.Tyr335Asp) n.583T>G | |
| 14 | g.75009136A>C | CA390430892 | EIF2B2 | c.1004A>C (p.Tyr335Ser) n.584A>C | |
| 14 | g.75009136A>G | CA390430894 | EIF2B2 | c.1004A>G (p.Tyr335Cys) n.584A>G | |
| 14 | g.75009136A>T | CA390430898 | EIF2B2 | c.1004A>T (p.Tyr335Phe) n.584A>T | |
| 14 | g.75009137C>A | CA390430901 | EIF2B2 | c.1005C>A (p.Tyr335Ter) n.585C>A | |
| 14 | g.75009137C= | CA2147300763 | EIF2B2 | c.1005C= (p.Tyr335=) n.585C= | |
| 14 | g.75009137C>G | CA390430902 | EIF2B2 | c.1005C>G (p.Tyr335Ter) n.585C>G | |
| 14 | g.75009137C>T | CA7275125 | EIF2B2 | c.1005C>T (p.Tyr335=) n.585C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75009138A>C | CA390430905 | EIF2B2 | c.1006A>C (p.Ile336Leu) n.586A>C | |
| 14 | g.75009138A>G | CA390430908 | EIF2B2 | c.1006A>G (p.Ile336Val) n.586A>G | |
| 14 | g.75009138A>T | CA390430903 | EIF2B2 | c.1006A>T (p.Ile336Phe) n.586A>T | |
| 14 | g.75009139T>A | CA390430911 | EIF2B2 | c.1007T>A (p.Ile336Asn) n.587T>A | |
| 14 | g.75009139T>C | CA390430913 | EIF2B2 | c.1007T>C (p.Ile336Thr) n.587T>C | gnomAD v4 |
| 14 | g.75009139T>G | CA390430918 | EIF2B2 | c.1007T>G (p.Ile336Ser) n.587T>G | |
| 14 | g.75009140C>A | CA487178877 | EIF2B2 | c.1008C>A (p.Ile336=) n.588C>A | gnomAD v4 |
| 14 | g.75009140C= | CA2147300764 | EIF2B2 | c.1008C= (p.Ile336=) n.588C= | |
| 14 | g.75009140C>G | CA390430922 | EIF2B2 | c.1008C>G (p.Ile336Met) n.588C>G | |
| 14 | g.75009140C>T | CA7275126 | EIF2B2 | c.1008C>T (p.Ile336=) n.588C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009141_75009143dup | CA2625725776 | EIF2B2 | c.1009_1011dup (p.Tyr337_Arg338insTyr) n.589_591dup | gnomAD v4 |
| 14 | g.75009141T>A | CA390430950 | EIF2B2 | c.1009T>A (p.Tyr337Asn) n.589T>A | |
| 14 | g.75009141T>C | CA390430942 | EIF2B2 | c.1009T>C (p.Tyr337His) n.589T>C | |
| 14 | g.75009141T>G | CA390430946 | EIF2B2 | c.1009T>G (p.Tyr337Asp) n.589T>G | |
| 14 | g.75009142A>C | CA390430953 | EIF2B2 | c.1010A>C (p.Tyr337Ser) n.590A>C | |
| 14 | g.75009142A>G | CA390430954 | EIF2B2 | c.1010A>G (p.Tyr337Cys) n.590A>G | |
| 14 | g.75009142A>T | CA390430956 | EIF2B2 | c.1010A>T (p.Tyr337Phe) n.590A>T | |
| 14 | g.75009143C>A | CA390430958 | EIF2B2 | c.1011C>A (p.Tyr337Ter) n.591C>A | |
| 14 | g.75009143C= | CA2147300765 | EIF2B2 | c.1011C= (p.Tyr337=) n.591C= | |
| 14 | g.75009143C>G | CA390430961 | EIF2B2 | c.1011C>G (p.Tyr337Ter) n.591C>G | |
| 14 | g.75009143C>T | CA7275127 | EIF2B2 | c.1011C>T (p.Tyr337=) n.591C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009144C>A | CA390430967 | EIF2B2 | c.1012C>A (p.Arg338Ser) n.592C>A | |
| 14 | g.75009144C>G | CA390430969 | EIF2B2 | c.1012C>G (p.Arg338Gly) n.592C>G | COSMIC |
| 14 | g.75009144C>T | CA390430965 | EIF2B2 | c.1012C>T (p.Arg338Cys) n.592C>T | |
| 14 | g.75009145G>A | CA390430976 | EIF2B2 | c.1013G>A (p.Arg338His) n.593G>A | gnomAD v4 |
| 14 | g.75009145G>C | CA390430971 | EIF2B2 | c.1013G>C (p.Arg338Pro) n.593G>C | |
| 14 | g.75009145G>T | CA390430979 | EIF2B2 | c.1013G>T (p.Arg338Leu) n.593G>T | |
| 14 | g.75009146C>A | CA487178878 | EIF2B2 | c.1014C>A (p.Arg338=) n.594C>A | |
| 14 | g.75009146C>G | CA487178879 | EIF2B2 | c.1014C>G (p.Arg338=) n.594C>G | |
| 14 | g.75009146C>T | CA487178880 | EIF2B2 | c.1014C>T (p.Arg338=) n.594C>T | |
| 14 | g.75009147C>A | CA390430982 | EIF2B2 | c.1015C>A (p.Leu339Met) n.595C>A | |
| 14 | g.75009147C>G | CA390430985 | EIF2B2 | c.1015C>G (p.Leu339Val) n.595C>G | |
| 14 | g.75009147C>T | CA487178881 | EIF2B2 | c.1015C>T (p.Leu339=) n.595C>T | gnomAD v4 |
| 14 | g.75009148T>A | CA390430998 | EIF2B2 | c.1016T>A (p.Leu339Gln) n.596T>A | |
| 14 | g.75009148T>C | CA390430999 | EIF2B2 | c.1016T>C (p.Leu339Pro) n.596T>C | gnomAD v4 |
| 14 | g.75009148T>G | CA390431003 | EIF2B2 | c.1016T>G (p.Leu339Arg) n.596T>G | |
| 14 | g.75009149G>A | CA487178882 | EIF2B2 | c.1017G>A (p.Leu339=) n.597G>A | COSMIC |
| 14 | g.75009149G>C | CA487178883 | EIF2B2 | c.1017G>C (p.Leu339=) n.597G>C | |
| 14 | g.75009149G>T | CA487178884 | EIF2B2 | c.1017G>T (p.Leu339=) n.597G>T | gnomAD v4 |
| 14 | g.75009150A= | CA2147300766 | EIF2B2 | c.1018A= (p.Met340=) n.598A= | |
| 14 | g.75009150A>C | CA390431010 | EIF2B2 | c.1018A>C (p.Met340Leu) n.598A>C | |
| 14 | g.75009150A>G | CA390431009 | EIF2B2 | c.1018A>G (p.Met340Val) n.598A>G | dbSNP |
| 14 | g.75009150A>T | CA390431006 | EIF2B2 | c.1018A>T (p.Met340Leu) n.598A>T | |
| 14 | g.75009151T>A | CA390431012 | EIF2B2 | c.1019T>A (p.Met340Lys) n.599T>A | |
| 14 | g.75009151T>C | CA390431013 | EIF2B2 | c.1019T>C (p.Met340Thr) n.599T>C | gnomAD v4 |
| 14 | g.75009151T>G | CA390431014 | EIF2B2 | c.1019T>G (p.Met340Arg) n.599T>G | |
| 14 | g.75009152G>A | CA390431016 | EIF2B2 | c.1020G>A (p.Met340Ile) n.600G>A | gnomAD v4 |
| 14 | g.75009152G>C | CA390431021 | EIF2B2 | c.1020G>C (p.Met340Ile) n.600G>C | |
| 14 | g.75009152G>T | CA390431024 | EIF2B2 | c.1020G>T (p.Met340Ile) n.600G>T | |
| 14 | g.75009153A>C | CA390431026 | EIF2B2 | c.1021A>C (p.Ser341Arg) n.601A>C | |
| 14 | g.75009153A>G | CA390431030 | EIF2B2 | c.1021A>G (p.Ser341Gly) n.601A>G | |
| 14 | g.75009153A>T | CA390431028 | EIF2B2 | c.1021A>T (p.Ser341Cys) n.601A>T | |
| 14 | g.75009154G>A | CA390431036 | EIF2B2 | c.1022G>A (p.Ser341Asn) n.602G>A | |
| 14 | g.75009154G>C | CA390431042 | EIF2B2 | c.1022G>C (p.Ser341Thr) n.602G>C | |
| 14 | g.75009154G>T | CA390431045 | EIF2B2 | c.1022G>T (p.Ser341Ile) n.602G>T | |
| 14 | g.75009155T>A | CA390431048 | EIF2B2 | c.1023T>A (p.Ser341Arg) n.603T>A | |
| 14 | g.75009155T>C | CA487178885 | EIF2B2 | c.1023T>C (p.Ser341=) n.603T>C | |
| 14 | g.75009155T>G | CA390431049 | EIF2B2 | c.1023T>G (p.Ser341Arg) n.603T>G | |
| 14 | g.75009156G>A | CA390431050 | EIF2B2 | c.1024G>A (p.Glu342Lys) n.604G>A | COSMIC |
| 14 | g.75009156G>C | CA390431052 | EIF2B2 | c.1024G>C (p.Glu342Gln) n.604G>C | |
| 14 | g.75009156G>T | CA390431055 | EIF2B2 | c.1024G>T (p.Glu342Ter) n.604G>T | |
| 14 | g.75009157A>C | CA390431058 | EIF2B2 | c.1025A>C (p.Glu342Ala) n.605A>C | |
| 14 | g.75009157A>G | CA390431060 | EIF2B2 | c.1025A>G (p.Glu342Gly) n.605A>G | |
| 14 | g.75009157A>T | CA390431064 | EIF2B2 | c.1025A>T (p.Glu342Val) n.605A>T | |
| 14 | g.75009158A>C | CA390431070 | EIF2B2 | c.1026A>C (p.Glu342Asp) n.606A>C | gnomAD v4 |
| 14 | g.75009158A>G | CA487178886 | EIF2B2 | c.1026A>G (p.Glu342=) n.606A>G | |
| 14 | g.75009158A>T | CA390431073 | EIF2B2 | c.1026A>T (p.Glu342Asp) n.606A>T | COSMIC |
| 14 | g.75009159C>A | CA390431076 | EIF2B2 | c.1027C>A (p.Leu343Ile) n.607C>A | |
| 14 | g.75009159C>G | CA390431082 | EIF2B2 | c.1027C>G (p.Leu343Val) n.607C>G | |
| 14 | g.75009159C>T | CA390431086 | EIF2B2 | c.1027C>T (p.Leu343Phe) n.607C>T | |
| 14 | g.75009160T>A | CA390431089 | EIF2B2 | c.1028T>A (p.Leu343His) n.608T>A | |
| 14 | g.75009160T>C | CA390431095 | EIF2B2 | c.1028T>C (p.Leu343Pro) n.608T>C | |
| 14 | g.75009160T>G | CA390431098 | EIF2B2 | c.1028T>G (p.Leu343Arg) n.608T>G | |
| 14 | g.75009161C>A | CA487178888 | EIF2B2 | c.1029C>A (p.Leu343=) n.609C>A | |
| 14 | g.75009161C>G | CA487178889 | EIF2B2 | c.1029C>G (p.Leu343=) n.609C>G | |
| 14 | g.75009161C>T | CA487178890 | EIF2B2 | c.1029C>T (p.Leu343=) n.609C>T | |
| 14 | g.75009162T>A | CA390431139 | EIF2B2 | c.1030T>A (p.Tyr344Asn) n.610T>A | |
| 14 | g.75009162T>C | CA390431103 | EIF2B2 | c.1030T>C (p.Tyr344His) n.610T>C | gnomAD v4 |
| 14 | g.75009162T>G | CA390431111 | EIF2B2 | c.1030T>G (p.Tyr344Asp) n.610T>G | |
| 14 | g.75009163A= | CA2147300767 | EIF2B2 | c.1031A= (p.Tyr344=) n.611A= | |
| 14 | g.75009163A>C | CA390431143 | EIF2B2 | c.1031A>C (p.Tyr344Ser) n.611A>C | gnomAD v4 |
| 14 | g.75009163A>G | CA390431153 | EIF2B2 | c.1031A>G (p.Tyr344Cys) n.611A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.75009163A>T | CA390431155 | EIF2B2 | c.1031A>T (p.Tyr344Phe) n.611A>T | |
| 14 | g.75009164C>A | CA390431158 | EIF2B2 | c.1032C>A (p.Tyr344Ter) n.612C>A | |
| 14 | g.75009164C>G | CA390431159 | EIF2B2 | c.1032C>G (p.Tyr344Ter) n.612C>G | |
| 14 | g.75009164C>T | CA487178891 | EIF2B2 | c.1032C>T (p.Tyr344=) n.612C>T | ClinVar |
| 14 | g.75009165C>A | CA390431160 | EIF2B2 | c.1033C>A (p.His345Asn) n.613C>A | |
| 14 | g.75009165C>G | CA390431164 | EIF2B2 | c.1033C>G (p.His345Asp) n.613C>G | gnomAD v4 |
| 14 | g.75009165C>T | CA390431163 | EIF2B2 | c.1033C>T (p.His345Tyr) n.613C>T | gnomAD v4 |
| 14 | g.75009166A>C | CA390431166 | EIF2B2 | c.1034A>C (p.His345Pro) n.614A>C | |
| 14 | g.75009166A>G | CA390431173 | EIF2B2 | c.1034A>G (p.His345Arg) n.614A>G | |
| 14 | g.75009166A>T | CA390431176 | EIF2B2 | c.1034A>T (p.His345Leu) n.614A>T | |
| 14 | g.75009167T>A | CA390431179 | EIF2B2 | c.1035T>A (p.His345Gln) n.615T>A | |
| 14 | g.75009167T>C | CA263656945 | EIF2B2 | c.1035T>C (p.His345=) n.615T>C | dbSNP |
| 14 | g.75009167T>G | CA390431182 | EIF2B2 | c.1035T>G (p.His345Gln) n.615T>G | |
| 14 | g.75009167T= | CA2147300768 | EIF2B2 | c.1035T= (p.His345=) n.615T= | |
| 14 | g.75009168C>A | CA390431187 | EIF2B2 | c.1036C>A (p.Pro346Thr) n.616C>A | |
| 14 | g.75009168C>G | CA390431213 | EIF2B2 | c.1036C>G (p.Pro346Ala) n.616C>G | |
| 14 | g.75009168C>T | CA390431218 | EIF2B2 | c.1036C>T (p.Pro346Ser) n.616C>T | COSMIC |
| 14 | g.75009169C>A | CA390431223 | EIF2B2 | c.1037C>A (p.Pro346His) n.617C>A | |
| 14 | g.75009169C>G | CA390431229 | EIF2B2 | c.1037C>G (p.Pro346Arg) n.617C>G | |
| 14 | g.75009169C>T | CA390431234 | EIF2B2 | c.1037C>T (p.Pro346Leu) n.617C>T | |
| 14 | g.75009170T>A | CA487178892 | EIF2B2 | c.1038T>A (p.Pro346=) n.618T>A | |
| 14 | g.75009170T>C | CA487178893 | EIF2B2 | c.1038T>C (p.Pro346=) n.618T>C | |
| 14 | g.75009170T>G | CA487178894 | EIF2B2 | c.1038T>G (p.Pro346=) n.618T>G | |
| 14 | g.75009171G>A | CA390431243 | EIF2B2 | c.1039G>A (p.Asp347Asn) n.619G>A | |
| 14 | g.75009171G>C | CA390431239 | EIF2B2 | c.1039G>C (p.Asp347His) n.619G>C | COSMIC |
| 14 | g.75009171G= | CA2147300769 | EIF2B2 | c.1039G= (p.Asp347=) n.619G= | |
| 14 | g.75009171G>T | CA390431238 | EIF2B2 | c.1039G>T (p.Asp347Tyr) n.619G>T | dbSNP |
| 14 | g.75009172A>C | CA390431246 | EIF2B2 | c.1040A>C (p.Asp347Ala) n.620A>C | COSMIC |
| 14 | g.75009172A>G | CA390431253 | EIF2B2 | c.1040A>G (p.Asp347Gly) n.620A>G | |
| 14 | g.75009172A>T | CA390431249 | EIF2B2 | c.1040A>T (p.Asp347Val) n.620A>T | |
| 14 | g.75009173T>A | CA390431256 | EIF2B2 | c.1041T>A (p.Asp347Glu) n.621T>A | |
| 14 | g.75009173T>C | CA487178895 | EIF2B2 | c.1041T>C (p.Asp347=) n.621T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009173T>G | CA390431259 | EIF2B2 | c.1041T>G (p.Asp347Glu) n.621T>G | |
| 14 | g.75009173T= | CA2147300770 | EIF2B2 | c.1041T= (p.Asp347=) n.621T= | |
| 14 | g.75009174G>A | CA390431267 | EIF2B2 | c.1042G>A (p.Asp348Asn) n.622G>A | gnomAD v4 |
| 14 | g.75009174G>C | CA390431274 | EIF2B2 | c.1042G>C (p.Asp348His) n.622G>C | |
| 14 | g.75009174G>T | CA390431275 | EIF2B2 | c.1042G>T (p.Asp348Tyr) n.622G>T | gnomAD v4 |
| 14 | g.75009174dup | CA7275128 | EIF2B2 | c.1042dup (p.Asp348GlyfsTer16) n.622dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75009174_75009177delinsGATC | CA2147300771 | EIF2B2 | c.1042_1045delinsGATC (p.Asp348=) n.622_625delinsGATC | |
| 14 | g.75009175A>C | CA390431283 | EIF2B2 | c.1043A>C (p.Asp348Ala) n.623A>C | |
| 14 | g.75009175A>G | CA390431284 | EIF2B2 | c.1043A>G (p.Asp348Gly) n.623A>G | |
| 14 | g.75009175A>T | CA390431285 | EIF2B2 | c.1043A>T (p.Asp348Val) n.623A>T | |
| 14 | g.75009177_75009179del | CA7275129 | EIF2B2 | c.1045_1047del (p.His349del) n.625_627del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75009176T>A | CA390431289 | EIF2B2 | c.1044T>A (p.Asp348Glu) n.624T>A | dbSNP |
| 14 | g.75009176T>C | CA487178896 | EIF2B2 | c.1044T>C (p.Asp348=) n.624T>C | gnomAD v4 |
| 14 | g.75009176T>G | CA390431293 | EIF2B2 | c.1044T>G (p.Asp348Glu) n.624T>G | |
| 14 | g.75009176T= | CA2147300772 | EIF2B2 | c.1044T= (p.Asp348=) n.624T= | |
| 14 | g.75009177C>A | CA390431308 | EIF2B2 | c.1045C>A (p.His349Asn) n.625C>A | |
| 14 | g.75009177C>G | CA390431301 | EIF2B2 | c.1045C>G (p.His349Asp) n.625C>G | |
| 14 | g.75009177C>T | CA390431307 | EIF2B2 | c.1045C>T (p.His349Tyr) n.625C>T | COSMIC |
| 14 | g.75009178A>C | CA390431312 | EIF2B2 | c.1046A>C (p.His349Pro) n.626A>C | |
| 14 | g.75009178A>G | CA390431314 | EIF2B2 | c.1046A>G (p.His349Arg) n.626A>G | gnomAD v4 |
| 14 | g.75009178A>T | CA390431317 | EIF2B2 | c.1046A>T (p.His349Leu) n.626A>T | gnomAD v4 |
| 14 | g.75009179T>A | CA390431319 | EIF2B2 | c.1047T>A (p.His349Gln) n.627T>A | |
| 14 | g.75009179T>C | CA487178898 | EIF2B2 | c.1047T>C (p.His349=) n.627T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75009179T>G | CA390431326 | EIF2B2 | c.1047T>G (p.His349Gln) n.627T>G | |
| 14 | g.75009179T= | CA2147300773 | EIF2B2 | c.1047T= (p.His349=) n.627T= | |
| 14 | g.75009180G>A | CA390431338 | EIF2B2 | c.1048G>A (p.Val350Ile) n.628G>A | |
| 14 | g.75009180G>C | CA390431339 | EIF2B2 | c.1048G>C (p.Val350Leu) n.628G>C | |
| 14 | g.75009180G>T | CA390431347 | EIF2B2 | c.1048G>T (p.Val350Phe) n.628G>T | |
| 14 | g.75009181T>A | CA390431349 | EIF2B2 | c.1049T>A (p.Val350Asp) n.629T>A | |
| 14 | g.75009181T>C | CA390431354 | EIF2B2 | c.1049T>C (p.Val350Ala) n.629T>C | |
| 14 | g.75009181T>G | CA390431357 | EIF2B2 | c.1049T>G (p.Val350Gly) n.629T>G | |
| 14 | g.75009182T>A | CA487178899 | EIF2B2 | c.1050T>A (p.Val350=) n.630T>A | |
| 14 | g.75009182T>C | CA263656956 | EIF2B2 | c.1050T>C (p.Val350=) n.630T>C | dbSNP |
| 14 | g.75009182T>G | CA487178900 | EIF2B2 | c.1050T>G (p.Val350=) n.630T>G | gnomAD v4 |
| 14 | g.75009182T= | CA2147300774 | EIF2B2 | c.1050T= (p.Val350=) n.630T= | |
| 14 | g.75009183T>A | CA390431359 | EIF2B2 | c.1051T>A (p.Leu351Ile) n.631T>A | |
| 14 | g.75009183T>C | CA487178901 | EIF2B2 | c.1051T>C (p.Leu351=) n.631T>C | |
| 14 | g.75009183T>G | CA390431362 | EIF2B2 | c.1051T>G (p.Leu351Val) n.631T>G | |
| 14 | g.75009184T>A | CA390431366 | EIF2B2 | c.1052T>A (p.Leu351Ter) n.632T>A | |
| 14 | g.75009184T>C | CA7275130 | EIF2B2 | c.1052T>C (p.Leu351Ser) n.632T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75009184T>G | CA390431369 | EIF2B2 | c.1052T>G (p.Leu351Ter) n.632T>G | |
| 14 | g.75009184T= | CA2147300775 | EIF2B2 | c.1052T= (p.Leu351=) n.632T= | |
| 14 | g.75009185A>C | CA390431370 | EIF2B2 | c.1053A>C (p.Leu351Phe) n.633A>C | |
| 14 | g.75009185A>G | CA487178906 | EIF2B2 | c.1053A>G (p.Leu351=) n.633A>G | |
| 14 | g.75009185A>T | CA390431372 | EIF2B2 | c.1053A>T (p.Leu351Phe) n.633A>T | |
| 14 | g.75009185dup | CA615059822 | EIF2B2 | c.1053dup (p.Ter352MetextTer12) n.633dup | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75009186T>A | CA390431375 | EIF2B2 | c.1054T>A (p.Ter352Arg) n.634T>A | |
| 14 | g.75009186T>C | CA390431376 | EIF2B2 | c.1054T>C (p.Ter352Arg) n.634T>C | |
| 14 | g.75009186T>G | CA390431377 | EIF2B2 | c.1054T>G (p.Ter352Gly) n.634T>G | |
| 14 | g.75009187G>A | CA487178910 | EIF2B2 | c.1055G>A (p.Ter352=) n.635G>A | |
| 14 | g.75009187G>C | CA390431378 | EIF2B2 | c.1055G>C (p.Ter352Ser) n.635G>C | |
| 14 | g.75009187G>T | CA390431379 | EIF2B2 | c.1055G>T (p.Ter352Leu) n.635G>T | |
| 14 | g.75009188A>C | CA390431382 | EIF2B2 | c.1056A>C (p.Ter352Cys) n.636A>C | |
| 14 | g.75009188A>G | CA390431385 | EIF2B2 | c.1056A>G (p.Ter352Trp) n.636A>G | |
| 14 | g.75009188A>T | CA390431387 | EIF2B2 | c.1056A>T (p.Ter352Cys) n.636A>T |