Full data view for gene SH2D1A

Information The variants shown are described using the NM_002351.4 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-47C>T r.(=) p.(=) g.123480446C>T Copied from the Exome Variant Server SH2D1A_000001 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-32C>G r.(=) p.(=) g.123480461C>G Copied from the Exome Variant Server SH2D1A_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.7G>T r.(?) p.(Ala3Ser) g.123480499G>T Copied from the Exome Variant Server SH2D1A_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.12G>T r.(=) p.(=) g.123480504G>T Copied from the Exome Variant Server SH2D1A_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.48C>T r.(=) p.(=) g.123480540C>T Copied from the Exome Variant Server SH2D1A_000005 29/10563 27/6728 2/3835 - - - - - - -
?/? c.138-44G>T r.(=) p.(=) g.123499567G>T Copied from the Exome Variant Server SH2D1A_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.138-34A>G r.(=) p.(=) g.123499577A>G Copied from the Exome Variant Server SH2D1A_000007 4/10563 0/6728 4/3835 - - - - - - -
?/? c.138-4A>G r.spl? p.? g.123499607A>G Copied from the Exome Variant Server SH2D1A_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.145G>A r.(?) p.(Gly49Ser) g.123499618G>A Copied from the Exome Variant Server SH2D1A_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.225A>G r.(=) p.(=) g.123504049A>G Copied from the Exome Variant Server SH2D1A_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.345A>G r.(=) p.(=) g.123504169A>G Copied from the Exome Variant Server SH2D1A_000011 1/10561 1/6726 0/3835 - - - - - - -
?/? c.346+3A>G r.spl? p.? g.123504173A>G Copied from the Exome Variant Server SH2D1A_000012 6/10561 4/6726 2/3835 - - - - - - -
?/? c.346+27G>C r.(=) p.(=) g.123504197G>C Copied from the Exome Variant Server SH2D1A_000013 2/10562 2/6727 0/3835 - - - - - - -
?/? c.346+29G>T r.(=) p.(=) g.123504199G>T Copied from the Exome Variant Server SH2D1A_000014 1/10561 1/6727 0/3834 - - - - - - -
?/? c.347-35_347-31del r.(=) p.(=) g.123505166_123505170del Copied from the Exome Variant Server SH2D1A_000015 189/10069 159/6406 30/3663 - - - - - - -
?/? c.*4A>G r.(=) p.(=) g.123505245A>G Copied from the Exome Variant Server SH2D1A_000016 1/10540 1/6709 0/3831 - - - - - - -
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