All transcript variants in gene GATA1

Information The variants shown are described using the NM_002049.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.65C>G r.(?) p.(Ala22Gly) g.48649581C>G Copied from the Exome Variant Server GATA1_000001 2/10562 2/6727 0/3835
?/? c.93G>C r.(=) p.(=) g.48649609G>C Copied from the Exome Variant Server GATA1_000002 1/10562 0/6727 1/3835
?/? c.113C>T r.(?) p.(Pro38Leu) g.48649629C>T Copied from the Exome Variant Server GATA1_000003 1/10562 1/6727 0/3835
?/? c.158C>A r.(?) p.(Ala53Asp) g.48649674C>A Copied from the Exome Variant Server GATA1_000004 4/10550 0/6717 4/3833
?/? c.163G>A r.(?) p.(Ala55Thr) g.48649679G>A Copied from the Exome Variant Server GATA1_000005 4/10551 3/6718 1/3833
?/? c.174G>A r.(=) p.(=) g.48649690G>A Copied from the Exome Variant Server GATA1_000006 3/10556 0/6721 3/3835
?/? c.196G>A r.(?) p.(Ala66Thr) g.48649712G>A Copied from the Exome Variant Server GATA1_000007 2/10562 2/6727 0/3835
?/? c.201G>A r.(=) p.(=) g.48649717G>A Copied from the Exome Variant Server GATA1_000008 15/10561 0/6726 15/3835
?/? c.210A>G r.(=) p.(=) g.48649726A>G Copied from the Exome Variant Server GATA1_000009 1/10561 0/6727 1/3834
?/? c.220+41T>C r.(=) p.(=) g.48649777T>C Copied from the Exome Variant Server GATA1_000010 3/10471 0/6659 3/3812
?/? c.302C>T r.(?) p.(Thr101Met) g.48650332C>T Copied from the Exome Variant Server GATA1_000011 1/10563 0/6728 1/3835
?/? c.303G>A r.(=) p.(=) g.48650333G>A Copied from the Exome Variant Server GATA1_000012 3/10563 1/6728 2/3835
?/? c.339C>T r.(=) p.(=) g.48650369C>T Copied from the Exome Variant Server GATA1_000013 1/10563 1/6728 0/3835
?/? c.352C>T r.(?) p.(Pro118Ser) g.48650382C>T Copied from the Exome Variant Server GATA1_000014 1/10563 1/6728 0/3835
?/? c.361G>A r.(?) p.(Val121Met) g.48650391G>A Copied from the Exome Variant Server GATA1_000015 1/10563 1/6728 0/3835
?/? c.480T>C r.(=) p.(=) g.48650510T>C Copied from the Exome Variant Server GATA1_000016 1/10563 1/6728 0/3835
?/? c.501C>T r.(=) p.(=) g.48650531C>T Copied from the Exome Variant Server GATA1_000017 1/10563 1/6728 0/3835
?/? c.571C>T r.(?) p.(Arg191Cys) g.48650601C>T Copied from the Exome Variant Server GATA1_000018 3/10563 3/6728 0/3835
?/? c.575G>A r.(?) p.(Gly192Glu) g.48650605G>A Copied from the Exome Variant Server GATA1_000019 1/10563 1/6728 0/3835
?/? c.594C>A r.(=) p.(=) g.48650624C>A Copied from the Exome Variant Server GATA1_000020 1/10563 1/6728 0/3835
?/? c.598+34G>T r.(=) p.(=) g.48650662G>T Copied from the Exome Variant Server GATA1_000021 1/10563 1/6728 0/3835
?/? c.598+40G>C r.(=) p.(=) g.48650668G>C Copied from the Exome Variant Server GATA1_000022 2/10563 0/6728 2/3835
?/? c.599-25C>T r.(=) p.(=) g.48650705C>T Copied from the Exome Variant Server GATA1_000023 1/10562 0/6727 1/3835
?/? c.599-19_599-17del r.(=) p.(=) g.48650711_48650713del Copied from the Exome Variant Server GATA1_000025 10/10204 8/6483 2/3721
?/? c.650G>A r.(?) p.(Arg217Lys) g.48650781G>A Copied from the Exome Variant Server GATA1_000027 1/10563 0/6728 1/3835
?/? c.660A>G r.(=) p.(=) g.48650791A>G Copied from the Exome Variant Server GATA1_000029 1/10563 1/6728 0/3835
?/? c.678C>T r.(=) p.(=) g.48650809C>T Copied from the Exome Variant Server GATA1_000031 1/10563 1/6728 0/3835
?/? c.734A>G r.(?) p.(Lys245Arg) g.48650865A>G Copied from the Exome Variant Server GATA1_000033 1/10563 1/6728 0/3835
?/? c.744+5G>A r.spl? p.? g.48650880G>A Copied from the Exome Variant Server GATA1_000035 1/10563 1/6728 0/3835
?/? c.745-9G>A r.(=) p.(=) g.48651570G>A Copied from the Exome Variant Server GATA1_000037 1/10563 1/6728 0/3835
?/? c.821G>A r.(?) p.(Ser274Asn) g.48651655G>A Copied from the Exome Variant Server GATA1_000039 1/10563 1/6728 0/3835
?/? c.846C>T r.(=) p.(=) g.48651680C>T Copied from the Exome Variant Server GATA1_000041 1/10563 1/6728 0/3835
?/? c.870+8C>T r.(=) p.(=) g.48651712C>T Copied from the Exome Variant Server GATA1_000024 1/10563 1/6728 0/3835
?/? c.870+28C>G r.(=) p.(=) g.48651732C>G Copied from the Exome Variant Server GATA1_000026 2/10563 0/6728 2/3835
?/? c.871-20C>T r.(=) p.(=) g.48652180C>T Copied from the Exome Variant Server GATA1_000028 2/10519 0/6700 2/3819
?/? c.871-15_871-13del r.(=) p.(=) g.48652185_48652187del Copied from the Exome Variant Server GATA1_000030 4/10157 1/6451 3/3706
?/? c.871-7T>C r.(=) p.(=) g.48652193T>C Copied from the Exome Variant Server GATA1_000032 3/10528 0/6699 3/3829
?/? c.942A>G r.(=) p.(=) g.48652271A>G Copied from the Exome Variant Server GATA1_000034 5/10562 0/6727 5/3835
?/? c.981C>T r.(=) p.(=) g.48652310C>T Copied from the Exome Variant Server GATA1_000036 1/10560 0/6726 1/3834
?/? c.1030G>A r.(?) p.(Gly344Arg) g.48652359G>A Copied from the Exome Variant Server GATA1_000038 4/10556 0/6724 4/3832
?/? c.1045G>A r.(?) p.(Val349Met) g.48652374G>A Copied from the Exome Variant Server GATA1_000040 3/10553 2/6722 1/3831
?/? c.1046T>C r.(?) p.(Val349Ala) g.48652375T>C Copied from the Exome Variant Server GATA1_000042 1/10553 0/6722 1/3831
?/? c.1056C>T r.(=) p.(=) g.48652385C>T Copied from the Exome Variant Server GATA1_000043 1/10558 1/6725 0/3833
?/? c.1168C>G r.(?) p.(Pro390Ala) g.48652497C>G Copied from the Exome Variant Server GATA1_000044 1/10557 0/6724 1/3833
?/? c.1173G>A r.(=) p.(=) g.48652502G>A Copied from the Exome Variant Server GATA1_000045 27/10545 0/6714 27/3831
?/? c.1215T>A r.(=) p.(=) g.48652544T>A Copied from the Exome Variant Server GATA1_000046 1/10533 1/6712 0/3821
?/? c.1233C>T r.(=) p.(=) g.48652562C>T Copied from the Exome Variant Server GATA1_000047 1/10520 1/6704 0/3816
?/? c.*1G>A r.(=) p.(=) g.48652572G>A Copied from the Exome Variant Server GATA1_000048 5/10484 0/6684 5/3800
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