Full data view for gene SOX2

Information The variants shown are described using the NM_003106.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.150G>A r.(=) p.(=) g.181430298G>A Copied from the Exome Variant Server SOX2_000001 2/13006 1/8600 1/4406 - - - - - - -
?/? c.231C>A r.(=) p.(=) g.181430379C>A Copied from the Exome Variant Server SOX2_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.243T>G r.(=) p.(=) g.181430391T>G Copied from the Exome Variant Server SOX2_000003 5/13006 5/8600 0/4406 - - - - - - -
?/? c.397G>A r.(?) p.(Ala133Thr) g.181430545G>A Copied from the Exome Variant Server SOX2_000004 1/12808 1/8474 0/4334 - - - - - - -
?/? c.448G>A r.(?) p.(Gly150Ser) g.181430596G>A Copied from the Exome Variant Server SOX2_000005 1/12934 0/8558 1/4376 - - - - - - -
?/? c.453G>A r.(=) p.(=) g.181430601G>A Copied from the Exome Variant Server SOX2_000006 65/12950 1/8562 64/4388 - - - - - - -
?/? c.536G>T r.(?) p.(Gly179Val) g.181430684G>T Copied from the Exome Variant Server SOX2_000007 1/12992 1/8592 0/4400 - - - - - - -
?/? c.541C>T r.(?) p.(Pro181Ser) g.181430689C>T Copied from the Exome Variant Server SOX2_000008 1/12994 1/8592 0/4402 - - - - - - -
?/? c.544C>A r.(?) p.(Gln182Lys) g.181430692C>A Copied from the Exome Variant Server SOX2_000009 1/12996 1/8592 0/4404 - - - - - - -
?/? c.561T>C r.(=) p.(=) g.181430709T>C Copied from the Exome Variant Server SOX2_000010 9/13004 7/8598 2/4406 - - - - - - -
?/? c.643A>T r.(?) p.(Thr215Ser) g.181430791A>T Copied from the Exome Variant Server SOX2_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.645C>T r.(=) p.(=) g.181430793C>T Copied from the Exome Variant Server SOX2_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.786G>T r.(?) p.(Arg262Ser) g.181430934G>T Copied from the Exome Variant Server SOX2_000013 1/12984 1/8588 0/4396 - - - - - - -
?/? c.834C>T r.(=) p.(=) g.181430982C>T Copied from the Exome Variant Server SOX2_000014 13/12874 12/8510 1/4364 - - - - - - -
?/? c.*22G>A r.(=) p.(=) g.181431124G>A Copied from the Exome Variant Server SOX2_000015 50/9214 48/6242 2/2972 - - - - - - -
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