Unique variants in gene NDUFA1

Information The variants shown are described using the NM_004541.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.-51C>A r.(=) p.(=) g.119005824C>A Copied from the Exome Variant Server NDUFA1_000001 1/10563 1/6728 0/3835
1 c.-49C>G r.(=) p.(=) g.119005826C>G Copied from the Exome Variant Server NDUFA1_000002 1/10563 1/6728 0/3835
1 c.-44C>G r.(=) p.(=) g.119005831C>G Copied from the Exome Variant Server NDUFA1_000003 1/10563 0/6728 1/3835
1 c.-4A>G r.(=) p.(=) g.119005871A>G Copied from the Exome Variant Server NDUFA1_000004 26/10563 0/6728 26/3835
1 c.12G>C r.(?) p.(Glu4Asp) g.119005886G>C Copied from the Exome Variant Server NDUFA1_000005 1/10563 1/6728 0/3835
1 c.39C>T r.(=) p.(=) g.119005913C>T Copied from the Exome Variant Server NDUFA1_000006 1/10563 0/6728 1/3835
1 c.45C>T r.(=) p.(=) g.119005919C>T Copied from the Exome Variant Server NDUFA1_000007 1/10563 1/6728 0/3835
1 c.77T>C r.(?) p.(Ile26Thr) g.119005951T>C Copied from the Exome Variant Server NDUFA1_000008 1/10563 0/6728 1/3835
1 c.89C>G r.(?) p.(Thr30Ser) g.119005963C>G Copied from the Exome Variant Server NDUFA1_000009 1/10563 1/6728 0/3835
1 c.94G>C r.(?) p.(Gly32Arg) g.119005968G>C Copied from the Exome Variant Server NDUFA1_000010 71/10563 67/6728 4/3835
1 c.102+13C>T r.(=) p.(=) g.119005989C>T Copied from the Exome Variant Server NDUFA1_000011 1/10563 0/6728 1/3835
1 c.102+17C>T r.(=) p.(=) g.119005993C>T Copied from the Exome Variant Server NDUFA1_000012 1/10563 1/6728 0/3835
1 c.102+34G>C r.(=) p.(=) g.119006010G>C Copied from the Exome Variant Server NDUFA1_000013 1/10563 1/6728 0/3835
1 c.103-38T>G r.(=) p.(=) g.119007229T>G Copied from the Exome Variant Server NDUFA1_000014 936/10563 373/6728 563/3835
1 c.141G>C r.(=) p.(=) g.119007305G>C Copied from the Exome Variant Server NDUFA1_000015 12/10563 10/6728 2/3835
1 c.192+11A>C r.(=) p.(=) g.119007367A>C Copied from the Exome Variant Server NDUFA1_000016 1/10563 1/6728 0/3835
1 c.192+23G>T r.(=) p.(=) g.119007379G>T Copied from the Exome Variant Server NDUFA1_000017 1/10563 0/6728 1/3835
1 c.193-50C>A r.(=) p.(=) g.119010427C>A Copied from the Exome Variant Server NDUFA1_000018 627/10563 372/6728 255/3835
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