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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 |
|---|---|---|---|---|---|
| X | g.48792378C>A | CA412870669 | GATA1 | c.405C>A (p.Asp135Glu) c.654C>A (p.Asp218Glu) | |
| X | g.48792378C>G | CA412870671 | GATA1 | c.405C>G (p.Asp135Glu) c.654C>G (p.Asp218Glu) | |
| X | g.48792378C>T | CA516357679 | GATA1 | c.405C>T (p.Asp135=) c.654C>T (p.Asp218=) | |
| X | g.48792379A>C | CA516357690 | GATA1 | c.406A>C (p.Arg136=) c.655A>C (p.Arg219=) | |
| X | g.48792379A>G | CA412870674 | GATA1 | c.406A>G (p.Arg136Gly) c.655A>G (p.Arg219Gly) | |
| X | g.48792379A>T | CA412870675 | GATA1 | c.406A>T (p.Arg136Trp) c.655A>T (p.Arg219Trp) | |
| X | g.48792380G>A | CA412870679 | GATA1 | c.407G>A (p.Arg136Lys) c.656G>A (p.Arg219Lys) | |
| X | g.48792380G>C | CA412870686 | GATA1 | c.407G>C (p.Arg136Thr) c.656G>C (p.Arg219Thr) | |
| X | g.48792380G>T | CA412870688 | GATA1 | c.407G>T (p.Arg136Met) c.656G>T (p.Arg219Met) | |
| X | g.48792381G>A | CA516357695 | GATA1 | c.408G>A (p.Arg136=) c.657G>A (p.Arg219=) | |
| X | g.48792381G>C | CA412870692 | GATA1 | c.408G>C (p.Arg136Ser) c.657G>C (p.Arg219Ser) | |
| X | g.48792381G>T | CA412870694 | GATA1 | c.408G>T (p.Arg136Ser) c.657G>T (p.Arg219Ser) | |
| X | g.48792382A>C | CA412870696 | GATA1 | c.409A>C (p.Thr137Pro) c.658A>C (p.Thr220Pro) | ClinVar |
| X | g.48792382A>G | CA412870699 | GATA1 | c.409A>G (p.Thr137Ala) c.658A>G (p.Thr220Ala) | |
| X | g.48792382A>T | CA412870701 | GATA1 | c.409A>T (p.Thr137Ser) c.658A>T (p.Thr220Ser) | |
| X | g.48792383C>A | CA412870703 | GATA1 | c.410C>A (p.Thr137Lys) c.659C>A (p.Thr220Lys) | |
| X | g.48792383C>G | CA412870706 | GATA1 | c.410C>G (p.Thr137Arg) c.659C>G (p.Thr220Arg) | |
| X | g.48792383C>T | CA412870708 | GATA1 | c.410C>T (p.Thr137Ile) c.659C>T (p.Thr220Ile) | |
| X | g.48792384A= | CA2428390657 | GATA1 | c.411A= (p.Thr137=) c.660A= (p.Thr220=) | |
| X | g.48792384A>C | CA516357701 | GATA1 | c.411A>C (p.Thr137=) c.660A>C (p.Thr220=) | |
| X | g.48792384A>G | CA329106886 | GATA1 | c.411A>G (p.Thr137=) c.660A>G (p.Thr220=) | dbSNP |
| X | g.48792384A>T | CA516357707 | GATA1 | c.411A>T (p.Thr137=) c.660A>T (p.Thr220=) | |
| X | g.48792385G>A | CA412870713 | GATA1 | c.412G>A (p.Gly138Ser) c.661G>A (p.Gly221Ser) | ClinVar dbSNP |
| X | g.48792385G>C | CA412870716 | GATA1 | c.412G>C (p.Gly138Arg) c.661G>C (p.Gly221Arg) | |
| X | g.48792385G= | CA2428390658 | GATA1 | c.412G= (p.Gly138=) c.661G= (p.Gly221=) | |
| X | g.48792385G>T | CA412870712 | GATA1 | c.412G>T (p.Gly138Cys) c.661G>T (p.Gly221Cys) | |
| X | g.48792386G>A | CA412870719 | GATA1 | c.413G>A (p.Gly138Asp) c.662G>A (p.Gly221Asp) | |
| X | g.48792386G>C | CA412870724 | GATA1 | c.413G>C (p.Gly138Ala) c.662G>C (p.Gly221Ala) | |
| X | g.48792386G>T | CA412870721 | GATA1 | c.413G>T (p.Gly138Val) c.662G>T (p.Gly221Val) | |
| X | g.48792387C>A | CA516357711 | GATA1 | c.414C>A (p.Gly138=) c.663C>A (p.Gly221=) | |
| X | g.48792387C= | CA2428390659 | GATA1 | c.414C= (p.Gly138=) c.663C= (p.Gly221=) | |
| X | g.48792387C>G | CA10404646 | GATA1 | c.414C>G (p.Gly138=) c.663C>G (p.Gly221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48792387C>T | CA516357714 | GATA1 | c.414C>T (p.Gly138=) c.663C>T (p.Gly221=) | |
| X | g.48792388C>A | CA412870733 | GATA1 | c.415C>A (p.His139Asn) c.664C>A (p.His222Asn) | |
| X | g.48792388C>G | CA412870729 | GATA1 | c.415C>G (p.His139Asp) c.664C>G (p.His222Asp) | |
| X | g.48792388C>T | CA412870731 | GATA1 | c.415C>T (p.His139Tyr) c.664C>T (p.His222Tyr) | gnomAD v4 |
| X | g.48792389A>C | CA412870736 | GATA1 | c.416A>C (p.His139Pro) c.665A>C (p.His222Pro) | |
| X | g.48792389A>G | CA412870739 | GATA1 | c.416A>G (p.His139Arg) c.665A>G (p.His222Arg) | |
| X | g.48792389A>T | CA412870742 | GATA1 | c.416A>T (p.His139Leu) c.665A>T (p.His222Leu) | |
| X | g.48792390C>A | CA412870743 | GATA1 | c.417C>A (p.His139Gln) c.666C>A (p.His222Gln) | |
| X | g.48792390C>G | CA412870744 | GATA1 | c.417C>G (p.His139Gln) c.666C>G (p.His222Gln) | |
| X | g.48792390C>T | CA516357721 | GATA1 | c.417C>T (p.His139=) c.666C>T (p.His222=) | |
| X | g.48792391T>A | CA412870746 | GATA1 | c.418T>A (p.Tyr140Asn) c.667T>A (p.Tyr223Asn) | |
| X | g.48792391T>C | CA412870748 | GATA1 | c.418T>C (p.Tyr140His) c.667T>C (p.Tyr223His) | |
| X | g.48792391T>G | CA412870751 | GATA1 | c.418T>G (p.Tyr140Asp) c.667T>G (p.Tyr223Asp) | |
| X | g.48792392A>C | CA412870752 | GATA1 | c.419A>C (p.Tyr140Ser) c.668A>C (p.Tyr223Ser) | |
| X | g.48792392A>G | CA412870755 | GATA1 | c.419A>G (p.Tyr140Cys) c.668A>G (p.Tyr223Cys) | |
| X | g.48792392A>T | CA412870756 | GATA1 | c.419A>T (p.Tyr140Phe) c.668A>T (p.Tyr223Phe) | |
| X | g.48792393C>A | CA412870758 | GATA1 | c.420C>A (p.Tyr140Ter) c.669C>A (p.Tyr223Ter) | |
| X | g.48792393C>G | CA412870760 | GATA1 | c.420C>G (p.Tyr140Ter) c.669C>G (p.Tyr223Ter) | |
| X | g.48792393C>T | CA516357731 | GATA1 | c.420C>T (p.Tyr140=) c.669C>T (p.Tyr223=) | |
| X | g.48792394C>A | CA412870761 | GATA1 | c.421C>A (p.Leu141Ile) c.670C>A (p.Leu224Ile) | ClinVar |
| X | g.48792394C>G | CA412870762 | GATA1 | c.421C>G (p.Leu141Val) c.670C>G (p.Leu224Val) | |
| X | g.48792394C>T | CA516357737 | GATA1 | c.421C>T (p.Leu141=) c.670C>T (p.Leu224=) | |
| X | g.48792395T>A | CA412870765 | GATA1 | c.422T>A (p.Leu141Gln) c.671T>A (p.Leu224Gln) | |
| X | g.48792395T>C | CA412870768 | GATA1 | c.422T>C (p.Leu141Pro) c.671T>C (p.Leu224Pro) | |
| X | g.48792395T>G | CA412870775 | GATA1 | c.422T>G (p.Leu141Arg) c.671T>G (p.Leu224Arg) | |
| X | g.48792396A>C | CA516357744 | GATA1 | c.423A>C (p.Leu141=) c.672A>C (p.Leu224=) | |
| X | g.48792396A>G | CA516357742 | GATA1 | c.423A>G (p.Leu141=) c.672A>G (p.Leu224=) | |
| X | g.48792396A>T | CA516357740 | GATA1 | c.423A>T (p.Leu141=) c.672A>T (p.Leu224=) | |
| X | g.48792397T>A | CA412870778 | GATA1 | c.424T>A (p.Cys142Ser) c.673T>A (p.Cys225Ser) | |
| X | g.48792397T>C | CA412870780 | GATA1 | c.424T>C (p.Cys142Arg) c.673T>C (p.Cys225Arg) | |
| X | g.48792397T>G | CA412870785 | GATA1 | c.424T>G (p.Cys142Gly) c.673T>G (p.Cys225Gly) | |
| X | g.48792398G>A | CA412870787 | GATA1 | c.425G>A (p.Cys142Tyr) c.674G>A (p.Cys225Tyr) | |
| X | g.48792398G>C | CA412870789 | GATA1 | c.425G>C (p.Cys142Ser) c.674G>C (p.Cys225Ser) | |
| X | g.48792398G>T | CA412870791 | GATA1 | c.425G>T (p.Cys142Phe) c.674G>T (p.Cys225Phe) | |
| X | g.48792399C>A | CA412870794 | GATA1 | c.426C>A (p.Cys142Ter) c.675C>A (p.Cys225Ter) | |
| X | g.48792399C>G | CA412870795 | GATA1 | c.426C>G (p.Cys142Trp) c.675C>G (p.Cys225Trp) | |
| X | g.48792399C>T | CA516357755 | GATA1 | c.426C>T (p.Cys142=) c.675C>T (p.Cys225=) | |
| X | g.48792400A>C | CA412870797 | GATA1 | c.427A>C (p.Asn143His) c.676A>C (p.Asn226His) | |
| X | g.48792400A>G | CA412870800 | GATA1 | c.427A>G (p.Asn143Asp) c.676A>G (p.Asn226Asp) | COSMIC COSMIC |
| X | g.48792400A>T | CA412870802 | GATA1 | c.427A>T (p.Asn143Tyr) c.676A>T (p.Asn226Tyr) | |
| X | g.48792401A>C | CA412870806 | GATA1 | c.428A>C (p.Asn143Thr) c.677A>C (p.Asn226Thr) | |
| X | g.48792401A>G | CA412870809 | GATA1 | c.428A>G (p.Asn143Ser) c.677A>G (p.Asn226Ser) | ClinVar dbSNP |
| X | g.48792401A>T | CA412870811 | GATA1 | c.428A>T (p.Asn143Ile) c.677A>T (p.Asn226Ile) | |
| X | g.48792402C>A | CA412870814 | GATA1 | c.429C>A (p.Asn143Lys) c.678C>A (p.Asn226Lys) | gnomAD v4 |
| X | g.48792402C= | CA2428390660 | GATA1 | c.429C= (p.Asn143=) c.678C= (p.Asn226=) | |
| X | g.48792402C>G | CA412870815 | GATA1 | c.429C>G (p.Asn143Lys) c.678C>G (p.Asn226Lys) | |
| X | g.48792402C>T | CA10404647 | GATA1 | c.429C>T (p.Asn143=) c.678C>T (p.Asn226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.48792403G>A | CA412870820 | GATA1 | c.430G>A (p.Ala144Thr) c.679G>A (p.Ala227Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.48792403G>C | CA412870822 | GATA1 | c.430G>C (p.Ala144Pro) c.679G>C (p.Ala227Pro) | |
| X | g.48792403G= | CA2428390661 | GATA1 | c.430G= (p.Ala144=) c.679G= (p.Ala227=) | |
| X | g.48792403G>T | CA412870825 | GATA1 | c.430G>T (p.Ala144Ser) c.679G>T (p.Ala227Ser) | |
| X | g.48792404C>A | CA412870832 | GATA1 | c.431C>A (p.Ala144Asp) c.680C>A (p.Ala227Asp) | |
| X | g.48792404C= | CA2428390662 | GATA1 | c.431C= (p.Ala144=) c.680C= (p.Ala227=) | |
| X | g.48792404C>G | CA412870827 | GATA1 | c.431C>G (p.Ala144Gly) c.680C>G (p.Ala227Gly) | |
| X | g.48792404C>T | CA412870829 | GATA1 | c.431C>T (p.Ala144Val) c.680C>T (p.Ala227Val) | ClinVar dbSNP |
| X | g.48792405C>A | CA516357761 | GATA1 | c.432C>A (p.Ala144=) c.681C>A (p.Ala227=) | |
| X | g.48792405C>G | CA516357762 | GATA1 | c.432C>G (p.Ala144=) c.681C>G (p.Ala227=) | |
| X | g.48792405C>T | CA516357763 | GATA1 | c.432C>T (p.Ala144=) c.681C>T (p.Ala227=) | |
| X | g.48792406T>A | CA412870834 | GATA1 | c.433T>A (p.Cys145Ser) c.682T>A (p.Cys228Ser) | |
| X | g.48792406T>C | CA412870836 | GATA1 | c.433T>C (p.Cys145Arg) c.682T>C (p.Cys228Arg) | |
| X | g.48792406T>G | CA412870838 | GATA1 | c.433T>G (p.Cys145Gly) c.682T>G (p.Cys228Gly) | |
| X | g.48792407G>A | CA412870842 | GATA1 | c.434G>A (p.Cys145Tyr) c.683G>A (p.Cys228Tyr) | |
| X | g.48792407G>C | CA412870843 | GATA1 | c.434G>C (p.Cys145Ser) c.683G>C (p.Cys228Ser) | |
| X | g.48792407G>T | CA412870845 | GATA1 | c.434G>T (p.Cys145Phe) c.683G>T (p.Cys228Phe) | |
| X | g.48792408C>A | CA412870848 | GATA1 | c.435C>A (p.Cys145Ter) c.684C>A (p.Cys228Ter) | |
| X | g.48792408C= | CA2428390663 | GATA1 | c.435C= (p.Cys145=) c.684C= (p.Cys228=) | |
| X | g.48792408C>G | CA412870850 | GATA1 | c.435C>G (p.Cys145Trp) c.684C>G (p.Cys228Trp) | |
| X | g.48792408C>T | CA516357771 | GATA1 | c.435C>T (p.Cys145=) c.684C>T (p.Cys228=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48792409G>A | CA412870852 | GATA1 | c.436G>A (p.Gly146Ser) c.685G>A (p.Gly229Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48792409G>C | CA412870862 | GATA1 | c.436G>C (p.Gly146Arg) c.685G>C (p.Gly229Arg) | |
| X | g.48792409G= | CA2428390664 | GATA1 | c.436G= (p.Gly146=) c.685G= (p.Gly229=) | |
| X | g.48792409G>T | CA412870864 | GATA1 | c.436G>T (p.Gly146Cys) c.685G>T (p.Gly229Cys) | |
| X | g.48792410G>A | CA412870868 | GATA1 | c.437G>A (p.Gly146Asp) c.686G>A (p.Gly229Asp) | |
| X | g.48792410G>C | CA412870871 | GATA1 | c.437G>C (p.Gly146Ala) c.686G>C (p.Gly229Ala) | |
| X | g.48792410G>T | CA412870867 | GATA1 | c.437G>T (p.Gly146Val) c.686G>T (p.Gly229Val) | |
| X | g.48792411C>A | CA516357781 | GATA1 | c.438C>A (p.Gly146=) c.687C>A (p.Gly229=) | |
| X | g.48792411C>G | CA516357780 | GATA1 | c.438C>G (p.Gly146=) c.687C>G (p.Gly229=) | |
| X | g.48792411C>T | CA516357779 | GATA1 | c.438C>T (p.Gly146=) c.687C>T (p.Gly229=) | |
| X | g.48792412C>A | CA412870873 | GATA1 | c.439C>A (p.Leu147Ile) c.688C>A (p.Leu230Ile) | |
| X | g.48792412C>G | CA412870876 | GATA1 | c.439C>G (p.Leu147Val) c.688C>G (p.Leu230Val) | |
| X | g.48792412C>T | CA412870877 | GATA1 | c.439C>T (p.Leu147Phe) c.688C>T (p.Leu230Phe) | |
| X | g.48792413T>A | CA412870879 | GATA1 | c.440T>A (p.Leu147His) c.689T>A (p.Leu230His) | |
| X | g.48792413T>C | CA412870881 | GATA1 | c.440T>C (p.Leu147Pro) c.689T>C (p.Leu230Pro) | |
| X | g.48792413T>G | CA412870882 | GATA1 | c.440T>G (p.Leu147Arg) c.689T>G (p.Leu230Arg) | |
| X | g.48792414C>A | CA516357791 | GATA1 | c.441C>A (p.Leu147=) c.690C>A (p.Leu230=) | COSMIC COSMIC |
| X | g.48792414C>G | CA516357792 | GATA1 | c.441C>G (p.Leu147=) c.690C>G (p.Leu230=) | |
| X | g.48792414C>T | CA516357793 | GATA1 | c.441C>T (p.Leu147=) c.690C>T (p.Leu230=) | |
| X | g.48792415T>A | CA412870885 | GATA1 | c.442T>A (p.Tyr148Asn) c.691T>A (p.Tyr231Asn) | |
| X | g.48792415T>C | CA412870883 | GATA1 | c.442T>C (p.Tyr148His) c.691T>C (p.Tyr231His) | |
| X | g.48792415T>G | CA412870884 | GATA1 | c.442T>G (p.Tyr148Asp) c.691T>G (p.Tyr231Asp) | |
| X | g.48792416A>C | CA412870887 | GATA1 | c.443A>C (p.Tyr148Ser) c.692A>C (p.Tyr231Ser) | |
| X | g.48792416A>G | CA412870888 | GATA1 | c.443A>G (p.Tyr148Cys) c.692A>G (p.Tyr231Cys) | |
| X | g.48792416A>T | CA412870890 | GATA1 | c.443A>T (p.Tyr148Phe) c.692A>T (p.Tyr231Phe) | |
| X | g.48792417T>A | CA412870891 | GATA1 | c.444T>A (p.Tyr148Ter) c.693T>A (p.Tyr231Ter) | |
| X | g.48792417T>C | CA516357809 | GATA1 | c.444T>C (p.Tyr148=) c.693T>C (p.Tyr231=) | |
| X | g.48792417T>G | CA412870893 | GATA1 | c.444T>G (p.Tyr148Ter) c.693T>G (p.Tyr231Ter) | |
| X | g.48792418C>A | CA412870897 | GATA1 | c.445C>A (p.His149Asn) c.694C>A (p.His232Asn) | |
| X | g.48792418C>G | CA412870895 | GATA1 | c.445C>G (p.His149Asp) c.694C>G (p.His232Asp) | |
| X | g.48792418C>T | CA412870896 | GATA1 | c.445C>T (p.His149Tyr) c.694C>T (p.His232Tyr) | gnomAD v4 |
| X | g.48792419A>C | CA412870899 | GATA1 | c.446A>C (p.His149Pro) c.695A>C (p.His232Pro) | |
| X | g.48792419A>G | CA412870901 | GATA1 | c.446A>G (p.His149Arg) c.695A>G (p.His232Arg) | |
| X | g.48792419A>T | CA412870902 | GATA1 | c.446A>T (p.His149Leu) c.695A>T (p.His232Leu) | |
| X | g.48792420C>A | CA412870904 | GATA1 | c.447C>A (p.His149Gln) c.696C>A (p.His232Gln) | |
| X | g.48792420C>G | CA412870907 | GATA1 | c.447C>G (p.His149Gln) c.696C>G (p.His232Gln) | |
| X | g.48792420C>T | CA516357822 | GATA1 | c.447C>T (p.His149=) c.696C>T (p.His232=) | gnomAD v4 |
| X | g.48792421A>C | CA412870909 | GATA1 | c.448A>C (p.Lys150Gln) c.697A>C (p.Lys233Gln) | |
| X | g.48792421A>G | CA412870911 | GATA1 | c.448A>G (p.Lys150Glu) c.697A>G (p.Lys233Glu) | |
| X | g.48792421A>T | CA412870913 | GATA1 | c.448A>T (p.Lys150Ter) c.697A>T (p.Lys233Ter) | |
| X | g.48792422A= | CA2428390665 | GATA1 | c.449A= (p.Lys150=) c.698A= (p.Lys233=) | |
| X | g.48792422A>C | CA412870917 | GATA1 | c.449A>C (p.Lys150Thr) c.698A>C (p.Lys233Thr) | |
| X | g.48792422A>G | CA412870919 | GATA1 | c.449A>G (p.Lys150Arg) c.698A>G (p.Lys233Arg) | dbSNP |
| X | g.48792422A>T | CA412870921 | GATA1 | c.449A>T (p.Lys150Met) c.698A>T (p.Lys233Met) | |
| X | g.48792423G>A | CA516357825 | GATA1 | c.450G>A (p.Lys150=) c.699G>A (p.Lys233=) | gnomAD v4 COSMIC COSMIC |
| X | g.48792423G>C | CA412870923 | GATA1 | c.450G>C (p.Lys150Asn) c.699G>C (p.Lys233Asn) | gnomAD v4 |
| X | g.48792423G>T | CA412870925 | GATA1 | c.450G>T (p.Lys150Asn) c.699G>T (p.Lys233Asn) | |
| X | g.48792424A>C | CA412870928 | GATA1 | c.451A>C (p.Met151Leu) c.700A>C (p.Met234Leu) | |
| X | g.48792424A>G | CA412870932 | GATA1 | c.451A>G (p.Met151Val) c.700A>G (p.Met234Val) | |
| X | g.48792424A>T | CA412870930 | GATA1 | c.451A>T (p.Met151Leu) c.700A>T (p.Met234Leu) | |
| X | g.48792425T>A | CA412870935 | GATA1 | c.452T>A (p.Met151Lys) c.701T>A (p.Met234Lys) | |
| X | g.48792425T>C | CA412870936 | GATA1 | c.452T>C (p.Met151Thr) c.701T>C (p.Met234Thr) | |
| X | g.48792425T>G | CA412870937 | GATA1 | c.452T>G (p.Met151Arg) c.701T>G (p.Met234Arg) | |
| X | g.48792425_48792426insACACCAGGTGACGCCCTGCCCCTTGGA | CA2820814280 | GATA1 | c.452_453insACACCAGGTGACGCCCTGCCCCTTGGA (p.Met151delinsIleHisGlnValThrProCysProLeuGlu) c.701_702insACACCAGGTGACGCCCTGCCCCTTGGA (p.Met234delinsIleHisGlnValThrProCysProLeuGlu) | |
| X | g.48792426G>A | CA412870938 | GATA1 | c.453G>A (p.Met151Ile) c.702G>A (p.Met234Ile) | COSMIC COSMIC |
| X | g.48792426G>C | CA412870939 | GATA1 | c.453G>C (p.Met151Ile) c.702G>C (p.Met234Ile) | |
| X | g.48792426G>T | CA412870940 | GATA1 | c.453G>T (p.Met151Ile) c.702G>T (p.Met234Ile) | |
| X | g.48792427A>C | CA412870947 | GATA1 | c.454A>C (p.Asn152His) c.703A>C (p.Asn235His) | |
| X | g.48792427A>G | CA412870942 | GATA1 | c.454A>G (p.Asn152Asp) c.703A>G (p.Asn235Asp) | |
| X | g.48792427A>T | CA412870944 | GATA1 | c.454A>T (p.Asn152Tyr) c.703A>T (p.Asn235Tyr) | |
| X | g.48792428A>C | CA412870951 | GATA1 | c.455A>C (p.Asn152Thr) c.704A>C (p.Asn235Thr) | |
| X | g.48792428A>G | CA412870953 | GATA1 | c.455A>G (p.Asn152Ser) c.704A>G (p.Asn235Ser) | |
| X | g.48792428A>T | CA412870955 | GATA1 | c.455A>T (p.Asn152Ile) c.704A>T (p.Asn235Ile) | |
| X | g.48792429T>A | CA412870958 | GATA1 | c.456T>A (p.Asn152Lys) c.705T>A (p.Asn235Lys) | gnomAD v4 |
| X | g.48792429T>C | CA516357841 | GATA1 | c.456T>C (p.Asn152=) c.705T>C (p.Asn235=) | dbSNP gnomAD v4 |
| X | g.48792429T>G | CA412870959 | GATA1 | c.456T>G (p.Asn152Lys) c.705T>G (p.Asn235Lys) | |
| X | g.48792429T= | CA2428390666 | GATA1 | c.456T= (p.Asn152=) c.705T= (p.Asn235=) | |
| X | g.48792430G>A | CA412870962 | GATA1 | c.457G>A (p.Gly153Arg) c.706G>A (p.Gly236Arg) | |
| X | g.48792430G>C | CA412870965 | GATA1 | c.457G>C (p.Gly153Arg) c.706G>C (p.Gly236Arg) | |
| X | g.48792430G>T | CA412870963 | GATA1 | c.457G>T (p.Gly153Trp) c.706G>T (p.Gly236Trp) | |
| X | g.48792431G>A | CA412870967 | GATA1 | c.458G>A (p.Gly153Glu) c.707G>A (p.Gly236Glu) | |
| X | g.48792431G>C | CA412870969 | GATA1 | c.458G>C (p.Gly153Ala) c.707G>C (p.Gly236Ala) | |
| X | g.48792431G>T | CA412870970 | GATA1 | c.458G>T (p.Gly153Val) c.707G>T (p.Gly236Val) | |
| X | g.48792432G>A | CA516357846 | GATA1 | c.459G>A (p.Gly153=) c.708G>A (p.Gly236=) | |
| X | g.48792432G>C | CA516357845 | GATA1 | c.459G>C (p.Gly153=) c.708G>C (p.Gly236=) | |
| X | g.48792432G>T | CA516357844 | GATA1 | c.459G>T (p.Gly153=) c.708G>T (p.Gly236=) | |
| X | g.48792433C>A | CA412870972 | GATA1 | c.460C>A (p.Gln154Lys) c.709C>A (p.Gln237Lys) | COSMIC COSMIC |
| X | g.48792433C>G | CA412870974 | GATA1 | c.460C>G (p.Gln154Glu) c.709C>G (p.Gln237Glu) | |
| X | g.48792433C>T | CA412870975 | GATA1 | c.460C>T (p.Gln154Ter) c.709C>T (p.Gln237Ter) | |
| X | g.48792434A>C | CA412870976 | GATA1 | c.461A>C (p.Gln154Pro) c.710A>C (p.Gln237Pro) | |
| X | g.48792434A>G | CA412870977 | GATA1 | c.461A>G (p.Gln154Arg) c.710A>G (p.Gln237Arg) | COSMIC COSMIC |
| X | g.48792434A>T | CA412870978 | GATA1 | c.461A>T (p.Gln154Leu) c.710A>T (p.Gln237Leu) | |
| X | g.48792435G>A | CA516357849 | GATA1 | c.462G>A (p.Gln154=) c.711G>A (p.Gln237=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48792435G>C | CA412870979 | GATA1 | c.462G>C (p.Gln154His) c.711G>C (p.Gln237His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48792435G= | CA2428390667 | GATA1 | c.462G= (p.Gln154=) c.711G= (p.Gln237=) | |
| X | g.48792435G>T | CA412870981 | GATA1 | c.462G>T (p.Gln154His) c.711G>T (p.Gln237His) | |
| X | g.48792436A>C | CA412870984 | GATA1 | c.463A>C (p.Asn155His) c.712A>C (p.Asn238His) | |
| X | g.48792436A>G | CA412870986 | GATA1 | c.463A>G (p.Asn155Asp) c.712A>G (p.Asn238Asp) | |
| X | g.48792436A>T | CA412870983 | GATA1 | c.463A>T (p.Asn155Tyr) c.712A>T (p.Asn238Tyr) | |
| X | g.48792437A>C | CA412870989 | GATA1 | c.464A>C (p.Asn155Thr) c.713A>C (p.Asn238Thr) | |
| X | g.48792437A>G | CA412870987 | GATA1 | c.464A>G (p.Asn155Ser) c.713A>G (p.Asn238Ser) | |
| X | g.48792437A>T | CA412870990 | GATA1 | c.464A>T (p.Asn155Ile) c.713A>T (p.Asn238Ile) | |
| X | g.48792438C>A | CA412870992 | GATA1 | c.465C>A (p.Asn155Lys) c.714C>A (p.Asn238Lys) | |
| X | g.48792438C>G | CA412870993 | GATA1 | c.465C>G (p.Asn155Lys) c.714C>G (p.Asn238Lys) | |
| X | g.48792438C>T | CA516357852 | GATA1 | c.465C>T (p.Asn155=) c.714C>T (p.Asn238=) | gnomAD v4 |
| X | g.48792439A>C | CA516357853 | GATA1 | c.466A>C (p.Arg156=) c.715A>C (p.Arg239=) | |
| X | g.48792439A>G | CA412870995 | GATA1 | c.466A>G (p.Arg156Gly) c.715A>G (p.Arg239Gly) | |
| X | g.48792439A>T | CA412870996 | GATA1 | c.466A>T (p.Arg156Trp) c.715A>T (p.Arg239Trp) | |
| X | g.48792440G>A | CA10404648 | GATA1 | c.467G>A (p.Arg156Lys) c.716G>A (p.Arg239Lys) | dbSNP ExAC |
| X | g.48792440G>C | CA412870997 | GATA1 | c.467G>C (p.Arg156Thr) c.716G>C (p.Arg239Thr) | |
| X | g.48792440G= | CA2428390668 | GATA1 | c.467G= (p.Arg156=) c.716G= (p.Arg239=) | |
| X | g.48792440G>T | CA412870999 | GATA1 | c.467G>T (p.Arg156Met) c.716G>T (p.Arg239Met) | |
| X | g.48792441G>A | CA516357855 | GATA1 | c.468G>A (p.Arg156=) c.717G>A (p.Arg239=) | |
| X | g.48792441G>C | CA412871000 | GATA1 | c.468G>C (p.Arg156Ser) c.717G>C (p.Arg239Ser) | |
| X | g.48792441G>T | CA412871002 | GATA1 | c.468G>T (p.Arg156Ser) c.717G>T (p.Arg239Ser) | |
| X | g.48792442C>A | CA412871004 | GATA1 | c.469C>A (p.Pro157Thr) c.718C>A (p.Pro240Thr) | |
| X | g.48792442C>G | CA412871005 | GATA1 | c.469C>G (p.Pro157Ala) c.718C>G (p.Pro240Ala) | |
| X | g.48792442C>T | CA412871006 | GATA1 | c.469C>T (p.Pro157Ser) c.718C>T (p.Pro240Ser) | |
| X | g.48792443C>A | CA412871008 | GATA1 | c.470C>A (p.Pro157His) c.719C>A (p.Pro240His) | |
| X | g.48792443C>G | CA412871010 | GATA1 | c.470C>G (p.Pro157Arg) c.719C>G (p.Pro240Arg) | |
| X | g.48792443C>T | CA412871012 | GATA1 | c.470C>T (p.Pro157Leu) c.719C>T (p.Pro240Leu) | |
| X | g.48792444C>A | CA329106916 | GATA1 | c.471C>A (p.Pro157=) c.720C>A (p.Pro240=) | dbSNP |
| X | g.48792444C= | CA2428390669 | GATA1 | c.471C= (p.Pro157=) c.720C= (p.Pro240=) | |
| X | g.48792444C>G | CA516357858 | GATA1 | c.471C>G (p.Pro157=) c.720C>G (p.Pro240=) | |
| X | g.48792444C>T | CA516357859 | GATA1 | c.471C>T (p.Pro157=) c.720C>T (p.Pro240=) | |
| X | g.48792445C>A | CA412871013 | GATA1 | c.472C>A (p.Leu158Ile) c.721C>A (p.Leu241Ile) | |
| X | g.48792445C>G | CA412871017 | GATA1 | c.472C>G (p.Leu158Val) c.721C>G (p.Leu241Val) | |
| X | g.48792445C>T | CA412871015 | GATA1 | c.472C>T (p.Leu158Phe) c.721C>T (p.Leu241Phe) | |
| X | g.48792446T>A | CA412871018 | GATA1 | c.473T>A (p.Leu158His) c.722T>A (p.Leu241His) | dbSNP |
| X | g.48792446T>C | CA412871020 | GATA1 | c.473T>C (p.Leu158Pro) c.722T>C (p.Leu241Pro) | |
| X | g.48792446T>G | CA412871021 | GATA1 | c.473T>G (p.Leu158Arg) c.722T>G (p.Leu241Arg) | |
| X | g.48792446T= | CA2428390670 | GATA1 | c.473T= (p.Leu158=) c.722T= (p.Leu241=) | |
| X | g.48792447C>A | CA516357861 | GATA1 | c.474C>A (p.Leu158=) c.723C>A (p.Leu241=) | COSMIC |
| X | g.48792447C>G | CA516357862 | GATA1 | c.474C>G (p.Leu158=) c.723C>G (p.Leu241=) | |
| X | g.48792447C>T | CA516357863 | GATA1 | c.474C>T (p.Leu158=) c.723C>T (p.Leu241=) | gnomAD v4 |
| X | g.48792448A>C | CA412871027 | GATA1 | c.475A>C (p.Ile159Leu) c.724A>C (p.Ile242Leu) | |
| X | g.48792448A>G | CA412871029 | GATA1 | c.475A>G (p.Ile159Val) c.724A>G (p.Ile242Val) | |
| X | g.48792448A>T | CA412871030 | GATA1 | c.475A>T (p.Ile159Phe) c.724A>T (p.Ile242Phe) | |
| X | g.48792449T>A | CA412871033 | GATA1 | c.476T>A (p.Ile159Asn) c.725T>A (p.Ile242Asn) | |
| X | g.48792449T>C | CA412871034 | GATA1 | c.476T>C (p.Ile159Thr) c.725T>C (p.Ile242Thr) | ClinVar |
| X | g.48792449T>G | CA412871036 | GATA1 | c.476T>G (p.Ile159Ser) c.725T>G (p.Ile242Ser) | |
| X | g.48792450C>A | CA516357867 | GATA1 | c.477C>A (p.Ile159=) c.726C>A (p.Ile242=) | |
| X | g.48792450C>G | CA412871037 | GATA1 | c.477C>G (p.Ile159Met) c.726C>G (p.Ile242Met) | |
| X | g.48792450C>T | CA516357868 | GATA1 | c.477C>T (p.Ile159=) c.726C>T (p.Ile242=) | |
| X | g.48792451C>A | CA516357869 | GATA1 | c.478C>A (p.Arg160=) c.727C>A (p.Arg243=) | |
| X | g.48792451C= | CA2428390671 | GATA1 | c.478C= (p.Arg160=) c.727C= (p.Arg243=) | |
| X | g.48792451C>G | CA412871039 | GATA1 | c.478C>G (p.Arg160Gly) c.727C>G (p.Arg243Gly) | |
| X | g.48792451C>T | CA10404649 | GATA1 | c.478C>T (p.Arg160Trp) c.727C>T (p.Arg243Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48792452G>A | CA412871041 | GATA1 | c.479G>A (p.Arg160Gln) c.728G>A (p.Arg243Gln) | gnomAD v4 |
| X | g.48792452G>C | CA412871042 | GATA1 | c.479G>C (p.Arg160Pro) c.728G>C (p.Arg243Pro) | |
| X | g.48792452G>T | CA412871044 | GATA1 | c.479G>T (p.Arg160Leu) c.728G>T (p.Arg243Leu) | |
| X | g.48792453G>A | CA516357870 | GATA1 | c.480G>A (p.Arg160=) c.729G>A (p.Arg243=) | ClinVar gnomAD v4 |
| X | g.48792453G>C | CA516357873 | GATA1 | c.480G>C (p.Arg160=) c.729G>C (p.Arg243=) | |
| X | g.48792453G>T | CA516357871 | GATA1 | c.480G>T (p.Arg160=) c.729G>T (p.Arg243=) | |
| X | g.48792454C>A | CA412871045 | GATA1 | c.481C>A (p.Pro161Thr) c.730C>A (p.Pro244Thr) | |
| X | g.48792454C>G | CA412871046 | GATA1 | c.481C>G (p.Pro161Ala) c.730C>G (p.Pro244Ala) | |
| X | g.48792454C>T | CA412871048 | GATA1 | c.481C>T (p.Pro161Ser) c.730C>T (p.Pro244Ser) | |
| X | g.48792455C>A | CA412871049 | GATA1 | c.482C>A (p.Pro161His) c.731C>A (p.Pro244His) | |
| X | g.48792455C>G | CA412871050 | GATA1 | c.482C>G (p.Pro161Arg) c.731C>G (p.Pro244Arg) | |
| X | g.48792455C>T | CA412871052 | GATA1 | c.482C>T (p.Pro161Leu) c.731C>T (p.Pro244Leu) | |
| X | g.48792456C>A | CA516357874 | GATA1 | c.483C>A (p.Pro161=) c.732C>A (p.Pro244=) | |
| X | g.48792456C>G | CA516357875 | GATA1 | c.483C>G (p.Pro161=) c.732C>G (p.Pro244=) | |
| X | g.48792456C>T | CA516357876 | GATA1 | c.483C>T (p.Pro161=) c.732C>T (p.Pro244=) | |
| X | g.48792457A>C | CA412871053 | GATA1 | c.484A>C (p.Lys162Gln) c.733A>C (p.Lys245Gln) | |
| X | g.48792457A>G | CA412871054 | GATA1 | c.484A>G (p.Lys162Glu) c.733A>G (p.Lys245Glu) | COSMIC COSMIC |
| X | g.48792457A>T | CA412871055 | GATA1 | c.484A>T (p.Lys162Ter) c.733A>T (p.Lys245Ter) | |
| X | g.48792458A= | CA2428390672 | GATA1 | c.485A= (p.Lys162=) c.734A= (p.Lys245=) | |
| X | g.48792458A>C | CA412871060 | GATA1 | c.485A>C (p.Lys162Thr) c.734A>C (p.Lys245Thr) | |
| X | g.48792458A>G | CA329106935 | GATA1 | c.485A>G (p.Lys162Arg) c.734A>G (p.Lys245Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48792458A>T | CA412871057 | GATA1 | c.485A>T (p.Lys162Met) c.734A>T (p.Lys245Met) | |
| X | g.48792459G>A | CA516357878 | GATA1 | c.486G>A (p.Lys162=) c.735G>A (p.Lys245=) | |
| X | g.48792459G>C | CA412871062 | GATA1 | c.486G>C (p.Lys162Asn) c.735G>C (p.Lys245Asn) | |
| X | g.48792459G>T | CA412871064 | GATA1 | c.486G>T (p.Lys162Asn) c.735G>T (p.Lys245Asn) | gnomAD v4 |
| X | g.48792460A>C | CA412871066 | GATA1 | c.487A>C (p.Lys163Gln) c.736A>C (p.Lys246Gln) | ClinVar |
| X | g.48792460A>G | CA412871067 | GATA1 | c.487A>G (p.Lys163Glu) c.736A>G (p.Lys246Glu) | |
| X | g.48792460A>T | CA412871069 | GATA1 | c.487A>T (p.Lys163Ter) c.736A>T (p.Lys246Ter) | |
| X | g.48792461A>C | CA412871071 | GATA1 | c.488A>C (p.Lys163Thr) c.737A>C (p.Lys246Thr) | |
| X | g.48792461A>G | CA412871072 | GATA1 | c.488A>G (p.Lys163Arg) c.737A>G (p.Lys246Arg) | ClinVar |
| X | g.48792461A>T | CA412871074 | GATA1 | c.488A>T (p.Lys163Met) c.737A>T (p.Lys246Met) | |
| X | g.48792462G>A | CA516357879 | GATA1 | c.489G>A (p.Lys163=) c.738G>A (p.Lys246=) | dbSNP |
| X | g.48792462G>C | CA412871075 | GATA1 | c.489G>C (p.Lys163Asn) c.738G>C (p.Lys246Asn) | |
| X | g.48792462G= | CA2428390673 | GATA1 | c.489G= (p.Lys163=) c.738G= (p.Lys246=) | |
| X | g.48792462G>T | CA412871077 | GATA1 | c.489G>T (p.Lys163Asn) c.738G>T (p.Lys246Asn) | |
| X | g.48792463C>A | CA412871079 | GATA1 | c.490C>A (p.Arg164Ser) c.739C>A (p.Arg247Ser) | |
| X | g.48792463C= | CA2428390674 | GATA1 | c.490C= (p.Arg164=) c.739C= (p.Arg247=) | |
| X | g.48792463C>G | CA412871080 | GATA1 | c.490C>G (p.Arg164Gly) c.739C>G (p.Arg247Gly) | |
| X | g.48792463C>T | CA10404650 | GATA1 | c.490C>T (p.Arg164Cys) c.739C>T (p.Arg247Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48792464G>A | CA10404651 | GATA1 | c.491G>A (p.Arg164His) c.740G>A (p.Arg247His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48792464G>C | CA412871086 | GATA1 | c.491G>C (p.Arg164Pro) c.740G>C (p.Arg247Pro) | |
| X | g.48792464G= | CA2428390675 | GATA1 | c.491G= (p.Arg164=) c.740G= (p.Arg247=) | |
| X | g.48792464G>T | CA412871084 | GATA1 | c.491G>T (p.Arg164Leu) c.740G>T (p.Arg247Leu) | gnomAD v4 |
| X | g.48792465C>A | CA516357880 | GATA1 | c.492C>A (p.Arg164=) c.741C>A (p.Arg247=) | |
| X | g.48792465C>G | CA516357882 | GATA1 | c.492C>G (p.Arg164=) c.741C>G (p.Arg247=) | |
| X | g.48792465C>T | CA516357881 | GATA1 | c.492C>T (p.Arg164=) c.741C>T (p.Arg247=) | |
| X | g.48792466C>A | CA412871089 | GATA1 | c.493C>A (p.Leu165Met) c.742C>A (p.Leu248Met) | |
| X | g.48792466C>G | CA412871087 | GATA1 | c.493C>G (p.Leu165Val) c.742C>G (p.Leu248Val) | |
| X | g.48792466C>T | CA516357883 | GATA1 | c.493C>T (p.Leu165=) c.742C>T (p.Leu248=) | |
| X | g.48792467T>A | CA412871091 | GATA1 | c.494T>A (p.Leu165Gln) c.743T>A (p.Leu248Gln) | |
| X | g.48792467T>C | CA412871092 | GATA1 | c.494T>C (p.Leu165Pro) c.743T>C (p.Leu248Pro) | |
| X | g.48792467T>G | CA412871094 | GATA1 | c.494T>G (p.Leu165Arg) c.743T>G (p.Leu248Arg) | |
| X | g.48792468G>A | CA516357885 | GATA1 | c.495G>A (p.Leu165=) c.744G>A (p.Leu248=) | dbSNP |
| X | g.48792468G>C | CA516357886 | GATA1 | c.495G>C (p.Leu165=) c.744G>C (p.Leu248=) | |
| X | g.48792468G= | CA2428390676 | GATA1 | c.495G= (p.Leu165=) c.744G= (p.Leu248=) | |
| X | g.48792468G>T | CA516357887 | GATA1 | c.495G>T (p.Leu165=) c.744G>T (p.Leu248=) | |
| X | g.48792469G>A | CA412871095 | GATA1 | c.495+1G>A (n.495+1G>A) c.744+1G>A (n.744+1G>A) | |
| X | g.48792469G>C | CA412871097 | GATA1 | c.495+1G>C (n.495+1G>C) c.744+1G>C (n.744+1G>C) | |
| X | g.48792469G>T | CA412871099 | GATA1 | c.495+1G>T (n.495+1G>T) c.744+1G>T (n.744+1G>T) | |
| X | g.48792470T>A | CA412871101 | GATA1 | c.495+2T>A (n.495+2T>A) c.744+2T>A (n.744+2T>A) | |
| X | g.48792470T>C | CA412871102 | GATA1 | c.495+2T>C (n.495+2T>C) c.744+2T>C (n.744+2T>C) | |
| X | g.48792470T>G | CA412871104 | GATA1 | c.495+2T>G (n.495+2T>G) c.744+2T>G (n.744+2T>G) | |
| X | g.48792473G>A | CA10404652 | GATA1 | c.495+5G>A (n.495+5G>A) c.744+5G>A (n.744+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.48792473G= | CA2428390677 | GATA1 | c.495+5G= (n.495+5G=) c.744+5G= (n.744+5G=) | |
| X | g.48792476del | CA2579636864 | GATA1 | c.495+8del (n.495+8del) c.744+8del (n.744+8del) | |
| X | g.48792476C>G | CA2693649563 | GATA1 | c.495+8C>G (n.495+8C>G) c.744+8C>G (n.744+8C>G) | gnomAD v4 |
| X | g.48792478C>T | CA2693649564 | GATA1 | c.495+10C>T (n.495+10C>T) c.744+10C>T (n.744+10C>T) | gnomAD v4 |