All transcript variants in gene SMPX

Information The variants shown are described using the NM_014332.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.46-31_46-30insT r.(=) p.(=) g.21761984_21761985insA Copied from the Exome Variant Server SMPX_000014 26/10203 0/6482 26/3721
?/? c.51T>C r.(=) p.(=) g.21761949A>G Copied from the Exome Variant Server SMPX_000013 1/10563 1/6728 0/3835
?/? c.73T>A r.(?) p.(Phe25Ile) g.21761927A>T Copied from the Exome Variant Server SMPX_000012 1/10563 1/6728 0/3835
?/? c.77G>A r.(?) p.(Arg26Gln) g.21761923C>T Copied from the Exome Variant Server SMPX_000011 1/10563 1/6728 0/3835
?/? c.91C>G r.(?) p.(Gln31Glu) g.21761909G>C Copied from the Exome Variant Server SMPX_000010 4/10563 0/6728 4/3835
?/? c.99C>G r.(=) p.(=) g.21761901G>C Copied from the Exome Variant Server SMPX_000009 1/10563 0/6728 1/3835
?/? c.132G>A r.(=) p.(=) g.21761868C>T Copied from the Exome Variant Server SMPX_000008 1/10563 1/6728 0/3835
?/? c.133-49G>T r.(=) p.(=) g.21755864C>A Copied from the Exome Variant Server SMPX_000007 1/10563 0/6728 1/3835
?/? c.133-30T>C r.(=) p.(=) g.21755845A>G Copied from the Exome Variant Server SMPX_000006 1/10563 0/6728 1/3835
?/? c.133-29G>A r.(=) p.(=) g.21755844C>T Copied from the Exome Variant Server SMPX_000005 14/10563 0/6728 14/3835
?/? c.133-24G>A r.(=) p.(=) g.21755839C>T Copied from the Exome Variant Server SMPX_000004 19/10563 0/6728 19/3835
?/? c.133-13C>T r.(=) p.(=) g.21755828G>A Copied from the Exome Variant Server SMPX_000003 2/10563 2/6728 0/3835
?/? c.180G>T r.(=) p.(=) g.21755768C>A Copied from the Exome Variant Server SMPX_000002 2/10563 2/6728 0/3835
?/? c.213G>A r.(=) p.(=) g.21755735C>T Copied from the Exome Variant Server SMPX_000001 1/10563 1/6728 0/3835
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