All transcript variants in gene NDUFAF1

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

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-28G>T r.(=) p.(=) g.41689285C>A Copied from the Exome Variant Server NDUFAF1_000063 1/12806 1/8476 0/4330
?/? c.-20C>G r.(=) p.(=) g.41689277G>C Copied from the Exome Variant Server NDUFAF1_000062 11/12884 0/8530 11/4354
?/? c.-6T>G r.(=) p.(=) g.41689263A>C Copied from the Exome Variant Server NDUFAF1_000061 28/12930 22/8552 6/4378
?/? c.13C>T r.(?) p.(His5Tyr) g.41689245G>A Copied from the Exome Variant Server NDUFAF1_000060 1/12988 1/8590 0/4398
?/? c.26G>A r.(?) p.(Arg9His) g.41689232C>T Copied from the Exome Variant Server NDUFAF1_000059 2953/12998 2232/8596 721/4402
?/? c.60A>C r.(=) p.(=) g.41689198T>G Copied from the Exome Variant Server NDUFAF1_000058 1/13006 1/8600 0/4406
?/? c.61A>T r.(?) p.(Thr21Ser) g.41689197T>A Copied from the Exome Variant Server NDUFAF1_000057 2/13006 2/8600 0/4406
?/? c.70T>A r.(?) p.(Leu24Met) g.41689188A>T Copied from the Exome Variant Server NDUFAF1_000055 1/13004 1/8598 0/4406
?/? c.92G>T r.(?) p.(Arg31Leu) g.41689166C>A Copied from the Exome Variant Server NDUFAF1_000056 2465/13004 2242/8598 223/4406
?/? c.110G>C r.(?) p.(Ser37Thr) g.41689148C>G Copied from the Exome Variant Server NDUFAF1_000054 1/13006 0/8600 1/4406
?/? c.145G>C r.(?) p.(Ala49Pro) g.41689113C>G Copied from the Exome Variant Server NDUFAF1_000053 1/13006 0/8600 1/4406
?/? c.215C>G r.(?) p.(Thr72Ser) g.41689043G>C Copied from the Exome Variant Server NDUFAF1_000052 5/13006 4/8600 1/4406
?/? c.246C>T r.(=) p.(=) g.41689012G>A Copied from the Exome Variant Server NDUFAF1_000051 1/13006 1/8600 0/4406
?/? c.249T>A r.(?) p.(Asp83Glu) g.41689009A>T Copied from the Exome Variant Server NDUFAF1_000050 4/13006 4/8600 0/4406
?/? c.259A>G r.(?) p.(Arg87Gly) g.41688999T>C Copied from the Exome Variant Server NDUFAF1_000049 2/13006 0/8600 2/4406
?/? c.368T>C r.(?) p.(Val123Ala) g.41688890A>G Copied from the Exome Variant Server NDUFAF1_000048 7/13006 5/8600 2/4406
?/? c.404A>G r.(?) p.(Lys135Arg) g.41688854T>C Copied from the Exome Variant Server NDUFAF1_000047 1/13006 0/8600 1/4406
?/? c.420T>C r.(=) p.(=) g.41688838A>G Copied from the Exome Variant Server NDUFAF1_000046 1/13006 1/8600 0/4406
?/? c.474C>G r.(?) p.(Asn158Lys) g.41688784G>C Copied from the Exome Variant Server NDUFAF1_000045 1/13006 0/8600 1/4406
?/? c.490T>C r.(?) p.(Tyr164His) g.41688768A>G Copied from the Exome Variant Server NDUFAF1_000044 1/13006 1/8600 0/4406
?/? c.512C>T r.(?) p.(Ala171Val) g.41688746G>A Copied from the Exome Variant Server NDUFAF1_000043 4/13006 0/8600 4/4406
?/? c.522C>T r.(=) p.(=) g.41688736G>A Copied from the Exome Variant Server NDUFAF1_000042 1/13006 1/8600 0/4406
?/? c.526G>A r.(?) p.(Glu176Lys) g.41688732C>T Copied from the Exome Variant Server NDUFAF1_000041 417/13006 375/8600 42/4406
?/? c.529T>G r.(?) p.(Ser177Ala) g.41688729A>C Copied from the Exome Variant Server NDUFAF1_000040 1/13006 1/8600 0/4406
?/? c.539G>C r.(?) p.(Ser180Thr) g.41688719C>G Copied from the Exome Variant Server NDUFAF1_000039 1/13006 1/8600 0/4406
?/? c.553A>G r.(?) p.(Met185Val) g.41688705T>C Copied from the Exome Variant Server NDUFAF1_000038 2/13006 2/8600 0/4406
?/? c.554T>C r.(?) p.(Met185Thr) g.41688704A>G Copied from the Exome Variant Server NDUFAF1_000037 1/13006 0/8600 1/4406
?/? c.557T>C r.(?) p.(Ile186Thr) g.41688701A>G Copied from the Exome Variant Server NDUFAF1_000036 1/13006 0/8600 1/4406
?/? c.558A>G r.(?) p.(Ile186Met) g.41688700T>C Copied from the Exome Variant Server NDUFAF1_000035 229/13006 1/8600 228/4406
?/? c.573+37C>G r.(=) p.(=) g.41688648G>C Copied from the Exome Variant Server NDUFAF1_000034 30/13006 25/8600 5/4406
?/? c.573+38_573+39del r.(=) p.(=) g.41688646_41688647del Copied from the Exome Variant Server NDUFAF1_000033 3/12518 3/8254 0/4264
?/? c.573+39G>T r.(=) p.(=) g.41688646C>A Copied from the Exome Variant Server NDUFAF1_000032 4/13006 0/8600 4/4406
?/? c.573+41G>A r.(=) p.(=) g.41688644C>T Copied from the Exome Variant Server NDUFAF1_000031 2/13006 2/8600 0/4406
?/? c.582T>C r.(=) p.(=) g.41687234A>G Copied from the Exome Variant Server NDUFAF1_000030 1/13006 0/8600 1/4406
?/? c.585G>A r.(=) p.(=) g.41687231C>T Copied from the Exome Variant Server NDUFAF1_000029 1/13006 1/8600 0/4406
?/? c.638G>A r.(?) p.(Arg213His) g.41687178C>T Copied from the Exome Variant Server NDUFAF1_000028 4/13006 3/8600 1/4406
?/? c.675G>A r.(=) p.(=) g.41687141C>T Copied from the Exome Variant Server NDUFAF1_000027 1/13006 0/8600 1/4406
?/? c.692A>G r.(?) p.(Gln231Arg) g.41687124T>C Copied from the Exome Variant Server NDUFAF1_000026 5/13006 0/8600 5/4406
?/? c.695G>T r.(?) p.(Arg232Met) g.41687121C>A Copied from the Exome Variant Server NDUFAF1_000025 1/13006 0/8600 1/4406
?/? c.698C>T r.(?) p.(Thr233Met) g.41687118G>A Copied from the Exome Variant Server NDUFAF1_000024 1/13006 0/8600 1/4406
?/? c.708G>A r.(?) p.(Met236Ile) g.41687108C>T Copied from the Exome Variant Server NDUFAF1_000023 25/13006 23/8600 2/4406
?/? c.714T>C r.(=) p.(=) g.41687102A>G Copied from the Exome Variant Server NDUFAF1_000022 1/13006 0/8600 1/4406
?/? c.730C>T r.(?) p.(Arg244Cys) g.41687086G>A Copied from the Exome Variant Server NDUFAF1_000021 1/13006 1/8600 0/4406
?/? c.733G>T r.(?) p.(Gly245Trp) g.41687083C>A Copied from the Exome Variant Server NDUFAF1_000020 1/13006 1/8600 0/4406
?/? c.759+25T>C r.(=) p.(=) g.41687032A>G Copied from the Exome Variant Server NDUFAF1_000019 1/13006 1/8600 0/4406
?/? c.759+26A>G r.(=) p.(=) g.41687031T>C Copied from the Exome Variant Server NDUFAF1_000018 1/13006 0/8600 1/4406
?/? c.760-50G>A r.(=) p.(=) g.41680770C>T Copied from the Exome Variant Server NDUFAF1_000017 1/13004 1/8600 0/4404
?/? c.760-19A>T r.(=) p.(=) g.41680739T>A Copied from the Exome Variant Server NDUFAF1_000016 24/13006 20/8600 4/4406
?/? c.794G>A r.(?) p.(Gly265Glu) g.41680686C>T Copied from the Exome Variant Server NDUFAF1_000015 1/13006 1/8600 0/4406
?/? c.802C>T r.(?) p.(Arg268Trp) g.41680678G>A Copied from the Exome Variant Server NDUFAF1_000014 1/13006 1/8600 0/4406
?/? c.833A>G r.(?) p.(Lys278Arg) g.41680647T>C Copied from the Exome Variant Server NDUFAF1_000013 3/13006 0/8600 3/4406
?/? c.834+52G>A r.(=) p.(=) g.41680594C>T Copied from the Exome Variant Server NDUFAF1_000012 3/10296 0/7160 3/3136
?/? c.835-55_835-53del r.(=) p.(=) g.41679844_41679846del Copied from the Exome Variant Server NDUFAF1_000011 1/12414 0/8226 1/4188
?/? c.835-45C>G r.(=) p.(=) g.41679836G>C Copied from the Exome Variant Server NDUFAF1_000010 3/12968 0/8590 3/4378
?/? c.855C>T r.(=) p.(=) g.41679771G>A Copied from the Exome Variant Server NDUFAF1_000009 8/13006 6/8600 2/4406
?/? c.894A>G r.(?) p.(Ile298Met) g.41679732T>C Copied from the Exome Variant Server NDUFAF1_000008 4/13006 0/8600 4/4406
?/? c.895G>A r.(?) p.(Asp299Asn) g.41679731C>T Copied from the Exome Variant Server NDUFAF1_000007 1/13006 1/8600 0/4406
?/? c.909G>A r.(=) p.(=) g.41679717C>T Copied from the Exome Variant Server NDUFAF1_000006 1117/13006 415/8600 702/4406
?/? c.925C>G r.(?) p.(His309Asp) g.41679701G>C Copied from the Exome Variant Server NDUFAF1_000005 3/13006 3/8600 0/4406
?/? c.941C>G r.(?) p.(Ala314Gly) g.41679685G>C Copied from the Exome Variant Server NDUFAF1_000004 1797/13006 1634/8600 163/4406
?/? c.949A>G r.(?) p.(Asn317Asp) g.41679677T>C Copied from the Exome Variant Server NDUFAF1_000003 4/13006 1/8600 3/4406
?/? c.958G>A r.(?) p.(Glu320Lys) g.41679668C>T Copied from the Exome Variant Server NDUFAF1_000002 3/13006 3/8600 0/4406
?/? c.961C>T r.(?) p.(Leu321Phe) g.41679665G>A Copied from the Exome Variant Server NDUFAF1_000001 1/13006 1/8600 0/4406
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