Unique variants in gene SOX3

Information The variants shown are described using the NM_005634.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.14G>A r.(?) p.(Arg5Gln) g.139587212C>T Copied from the Exome Variant Server SOX3_000009 21/10454 20/6653 1/3801
1 c.63G>T r.(=) p.(=) g.139587163C>A Copied from the Exome Variant Server SOX3_000008 1/10521 1/6700 0/3821
1 c.77T>C r.(?) p.(Ile26Thr) g.139587149A>G Copied from the Exome Variant Server SOX3_000007 16/10525 0/6706 16/3819
1 c.127G>A r.(?) p.(Ala43Thr) g.139587099C>T Copied from the Exome Variant Server SOX3_000006 268/10495 3/6682 265/3813
1 c.157G>C r.(?) p.(Val53Leu) g.139587069C>G Copied from the Exome Variant Server SOX3_000005 10/10352 9/6587 1/3765
1 c.307C>A r.(?) p.(Pro103Thr) g.139586919G>T Copied from the Exome Variant Server SOX3_000004 170/10117 2/6412 168/3705
1 c.371G>T r.(?) p.(Ser124Ile) g.139586855C>A Copied from the Exome Variant Server SOX3_000003 1/10538 1/6709 0/3829
1 c.423G>A r.(=) p.(=) g.139586803C>T Copied from the Exome Variant Server SOX3_000002 1/10563 0/6728 1/3835
1 c.603G>A r.(=) p.(=) g.139586623C>T Copied from the Exome Variant Server SOX3_000001 13/10563 0/6728 13/3835
1 c.609T>C r.(=) p.(=) g.139586617A>G Copied from the Exome Variant Server SOX3_000013 207/10563 188/6728 19/3835
1 c.612G>C r.(=) p.(=) g.139586614C>G Copied from the Exome Variant Server SOX3_000012 1/10563 0/6728 1/3835
1 c.672C>G r.(=) p.(=) g.139586554G>C Copied from the Exome Variant Server SOX3_000011 3/10563 3/6728 0/3835
1 c.707_708del r.(?) p.(Ala236Glyfs*141) g.139586518_139586519del Copied from the Exome Variant Server SOX3_000010 12/8683 8/5532 4/3151
1 c.717_719del r.(?) p.(Ala248del) g.139586507_139586509del Copied from the Exome Variant Server SOX3_000018 52/4676 38/3188 14/1488
1 c.711_731del r.(?) p.(Ala242_Ala248del) g.139586495_139586515del Copied from the Exome Variant Server SOX3_000017 466/3869 314/2657 152/1212
1 c.879_881del r.(?) p.(Pro294del) g.139586345_139586347del Copied from the Exome Variant Server SOX3_000016 31/5261 24/3563 7/1698
1 c.1077_1088del r.(?) p.(Ala361_Ala364del) g.139586138_139586149del Copied from the Exome Variant Server SOX3_000015 32/5091 24/3436 8/1655
1 c.1176G>T r.(=) p.(=) g.139586050C>A Copied from the Exome Variant Server SOX3_000014 1/9622 1/6138 0/3484
1 c.1296C>T r.(=) p.(=) g.139585930G>A Copied from the Exome Variant Server SOX3_000019 1/9188 0/5862 1/3326
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