Unique variants in gene NDUFAF1

Information The variants shown are described using the NM_016013.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.26G>A r.(?) p.(Arg9His) g.41689232C>T - NDUFAF1_000017 rs1899 0.178 92 516 1968 - - Admin
./. 1 - c.92G>T r.(?) p.(Arg31Leu) g.41689166C>A - NDUFAF1_000016 rs3204853 0.182 94 516 3909 - - Admin
./. 1 - c.215C>G r.(?) p.(Thr72Ser) g.41689043G>C - NDUFAF1_000015 rs200472799 0.001938 1 516 5567 - - Admin
./. 1 - c.346G>T r.(?) p.(Val116Phe) g.41688912C>A - NDUFAF1_000014 - 0.001938 1 516 7640 1 - Admin
./. 1 - c.457A>G r.(?) p.(Lys153Glu) g.41688801T>C - NDUFAF1_000013 rs571701028 0.003876 2 516 6824 - - Admin
./. 1 - c.526G>A r.(?) p.(Glu176Lys) g.41688732C>T - NDUFAF1_000012 rs35227875 0.025 13 516 7637 - - Admin
./. 1 - c.558A>G r.(?) p.(Ile186Met) g.41688700T>C - NDUFAF1_000011 rs34979001 0.007752 4 516 8371 - - Admin
./. 1 - c.573+37C>G r.(=) p.(=) g.41688648G>C - NDUFAF1_000010 rs186056056 0.003876 2 516 8297 - - Admin
./. 1 - c.574-55C>T r.(=) p.(=) g.41687297G>A - NDUFAF1_000009 rs778074170 0.001938 1 516 6707 - - Admin
./. 1 - c.708G>A r.(?) p.(Met236Ile) g.41687108C>T - NDUFAF1_000008 rs150539399 0.001938 1 516 8945 - - Admin
./. 1 - c.759+414C>T r.(=) p.(=) g.41686643G>A - NDUFAF1_000007 rs140451106 0.003876 2 516 6731 - - Admin
./. 1 - c.759+510C>T r.(=) p.(=) g.41686547G>A - NDUFAF1_000006 rs143314438 0.001938 1 516 6443 - - Admin
./. 1 - c.759+579G>A r.(=) p.(=) g.41686478C>T - NDUFAF1_000005 rs769281751 0.001938 1 516 2707 - - Admin
./. 1 - c.760-19A>T r.(=) p.(=) g.41680739T>A - NDUFAF1_000004 rs139383475 0.003876 2 516 3129 - - Admin
./. 1 - c.768T>C r.(=) p.(=) g.41680712A>G - NDUFAF1_000003 rs1285202799 0.001938 1 516 3652 1 - Admin
./. 1 - c.909G>A r.(=) p.(=) g.41679717C>T - NDUFAF1_000002 rs73407109 0.072 37 516 3945 - - Admin
./. 1 - c.941C>G r.(?) p.(Ala314Gly) g.41679685G>C - NDUFAF1_000001 rs12900702 0.167 86 516 4495 - - Admin
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