Unique variants in gene KHDC1L

Information The variants shown are described using the NM_001126063.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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>C r.(=) p.(=) g.73935145C>G Copied from the Exome Variant Server KHDC1L_000013 36/4566 0/3182 36/1384
1 c.-4C>G r.(=) p.(=) g.73935135G>C Copied from the Exome Variant Server KHDC1L_000012 1412/4566 864/3182 548/1384
1 c.112+5G>A r.spl? p.? g.73935015C>T Copied from the Exome Variant Server KHDC1L_000011 2/4566 2/3182 0/1384
1 c.112+29_112+31del r.(=) p.(=) g.73934989_73934991del Copied from the Exome Variant Server KHDC1L_000010 11/11430 4/7840 7/3590
1 c.112+32A>G r.(=) p.(=) g.73934988T>C Copied from the Exome Variant Server KHDC1L_000009 1/4566 0/3182 1/1384
1 c.113-4A>G r.spl? p.? g.73934075T>C Copied from the Exome Variant Server KHDC1L_000008 1/4566 0/3182 1/1384
1 c.125C>G r.(?) p.(Thr42Arg) g.73934059G>C Copied from the Exome Variant Server KHDC1L_000007 8/4566 0/3182 8/1384
1 c.134G>A r.(?) p.(Arg45His) g.73934050C>T Copied from the Exome Variant Server KHDC1L_000006 1/4566 1/3182 0/1384
1 c.168G>A r.(=) p.(=) g.73934016C>T Copied from the Exome Variant Server KHDC1L_000005 2/4566 0/3182 2/1384
1 c.270C>T r.(=) p.(=) g.73933914G>A Copied from the Exome Variant Server KHDC1L_000004 1/4566 1/3182 0/1384
1 c.357C>T r.(=) p.(=) g.73933501G>A Copied from the Exome Variant Server KHDC1L_000003 83/4566 57/3182 26/1384
1 c.371C>G r.(?) p.(Pro124Arg) g.73933487G>C Copied from the Exome Variant Server KHDC1L_000002 1/4566 0/3182 1/1384
1 c.382G>A r.(?) p.(Asp128Asn) g.73933476C>T Copied from the Exome Variant Server KHDC1L_000001 5/4566 0/3182 5/1384
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