Unique variants in gene CT47A6

Information The variants shown are described using the NM_001080141.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.684_697del r.(?) p.(Asp229Serfs*18) g.120094386_120094399del Copied from the Exome Variant Server CT47A6_000007 116/3866 93/2756 23/1110
1 c.698_699insC r.(?) p.(Ala234Serfs*18) g.120094384_120094385insG Copied from the Exome Variant Server CT47A6_000006 123/3696 97/2698 26/998
1 c.701_702del r.(?) p.(Ala234Aspfs*17) g.120094381_120094382del Copied from the Exome Variant Server CT47A6_000004 67/3899 37/2790 30/1109
1 c.701_702insT r.(?) p.(Thr235Hisfs*17) g.120094381_120094382insA Copied from the Exome Variant Server CT47A6_000005 51/3904 30/2798 21/1106
1 c.703A>G r.(?) p.(Thr235Ala) g.120094380T>C Copied from the Exome Variant Server CT47A6_000003 1/5637 1/4062 0/1575
1 c.697_704del r.(?) p.(Pro233Argfs*16) g.120094379_120094386del Copied from the Exome Variant Server CT47A6_000002 39/3862 19/2776 20/1086
1 c.708A>G r.(=) p.(=) g.120094375T>C Copied from the Exome Variant Server CT47A6_000001 1/5547 1/4025 0/1522
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