Unique variants in gene IL2RG

Information The variants shown are described using the NM_000206.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-17A>T r.(=) p.(=) g.70331406T>A Copied from the Exome Variant Server IL2RG_000034 1/10563 1/6728 0/3835
1 c.78A>T r.(=) p.(=) g.70331312T>A Copied from the Exome Variant Server IL2RG_000033 4/10563 4/6728 0/3835
1 c.86C>T r.(?) p.(Thr29Met) g.70331304G>A Copied from the Exome Variant Server IL2RG_000031 1/10563 1/6728 0/3835
1 c.116-45A>G r.(=) p.(=) g.70330945T>C Copied from the Exome Variant Server IL2RG_000029 5/10515 0/6702 5/3813
1 c.116-35T>C r.(=) p.(=) g.70330935A>G Copied from the Exome Variant Server IL2RG_000027 8/10536 0/6713 8/3823
1 c.174A>G r.(=) p.(=) g.70330842T>C Copied from the Exome Variant Server IL2RG_000025 1/10563 0/6728 1/3835
1 c.269+14C>T r.(=) p.(=) g.70330733G>A Copied from the Exome Variant Server IL2RG_000032 1/10563 0/6728 1/3835
1 c.269+46G>A r.(=) p.(=) g.70330701C>T Copied from the Exome Variant Server IL2RG_000030 1/10563 1/6728 0/3835
1 c.270-7C>G r.(=) p.(=) g.70330545G>C Copied from the Exome Variant Server IL2RG_000028 1/10563 0/6728 1/3835
1 c.280T>A r.(?) p.(Ser94Thr) g.70330528A>T Copied from the Exome Variant Server IL2RG_000026 1/10563 1/6728 0/3835
1 c.282G>A r.(=) p.(=) g.70330526C>T Copied from the Exome Variant Server IL2RG_000024 2/10563 0/6728 2/3835
1 c.288T>C r.(=) p.(=) g.70330520A>G Copied from the Exome Variant Server IL2RG_000023 1/10563 1/6728 0/3835
1 c.325G>A r.(?) p.(Glu109Lys) g.70330483C>T Copied from the Exome Variant Server IL2RG_000022 6/10563 6/6728 0/3835
1 c.454+28C>T r.(=) p.(=) g.70330326G>A Copied from the Exome Variant Server IL2RG_000021 19/10563 16/6728 3/3835
1 c.459C>T r.(=) p.(=) g.70330141G>A Copied from the Exome Variant Server IL2RG_000020 2/10563 1/6728 1/3835
1 c.514C>A r.(?) p.(Leu172Met) g.70330086G>T Copied from the Exome Variant Server IL2RG_000019 2/10563 2/6728 0/3835
1 c.594+37C>T r.(=) p.(=) g.70329969G>A Copied from the Exome Variant Server IL2RG_000018 5/10563 5/6728 0/3835
1 c.595-17T>C r.(=) p.(=) g.70329257A>G Copied from the Exome Variant Server IL2RG_000017 1/10563 1/6728 0/3835
1 c.659C>T r.(?) p.(Thr220Met) g.70329176G>A Copied from the Exome Variant Server IL2RG_000016 1/10563 1/6728 0/3835
1 c.758-51A>C r.(=) p.(=) g.70328596T>G Copied from the Exome Variant Server IL2RG_000015 1/10350 0/6552 1/3798
1 c.761A>T r.(?) p.(Asn254Ile) g.70328542T>A Copied from the Exome Variant Server IL2RG_000014 1/10547 0/6715 1/3832
1 c.786C>T r.(=) p.(=) g.70328517G>A Copied from the Exome Variant Server IL2RG_000013 1/10555 1/6721 0/3834
1 c.821T>C r.(?) p.(Ile274Thr) g.70328482A>G Copied from the Exome Variant Server IL2RG_000012 1/10555 1/6720 0/3835
1 c.854+21G>A r.(=) p.(=) g.70328428C>T Copied from the Exome Variant Server IL2RG_000011 1/10530 1/6700 0/3830
1 c.854+46C>A r.(=) p.(=) g.70328403G>T Copied from the Exome Variant Server IL2RG_000010 2/10494 0/6671 2/3823
1 c.855-64T>C r.(=) p.(=) g.70328260A>G Copied from the Exome Variant Server IL2RG_000009 9/3600 7/2391 2/1209
1 c.855-21T>G r.(=) p.(=) g.70328217A>C Copied from the Exome Variant Server IL2RG_000008 2/10563 2/6728 0/3835
1 c.855-8C>T r.(=) p.(=) g.70328204G>A Copied from the Exome Variant Server IL2RG_000007 3/10563 0/6728 3/3835
1 c.858G>A r.(=) p.(=) g.70328193C>T Copied from the Exome Variant Server IL2RG_000006 1/10563 1/6728 0/3835
1 c.912C>T r.(=) p.(=) g.70328139G>A Copied from the Exome Variant Server IL2RG_000005 3/10563 2/6728 1/3835
1 c.953C>T r.(?) p.(Ala318Val) g.70327743G>A Copied from the Exome Variant Server IL2RG_000004 1/10563 0/6728 1/3835
1 c.1002G>A r.(=) p.(=) g.70327694C>T Copied from the Exome Variant Server IL2RG_000003 2/10563 0/6728 2/3835
1 c.1042G>A r.(?) p.(Ala348Thr) g.70327654C>T Copied from the Exome Variant Server IL2RG_000002 1/10558 0/6725 1/3833
1 c.1105A>G r.(?) p.(Thr369Ala) g.70327591T>C Copied from the Exome Variant Server IL2RG_000001 1/10552 1/6721 0/3831
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