Unique variants in gene NDUFAF2

Information The variants shown are described using the NM_174889.4 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.-50C>T r.(=) p.(=) g.60241033C>T Copied from the Exome Variant Server NDUFAF2_000001 1/13002 0/8598 1/4404
1 c.32T>C r.(?) p.(Leu11Ser) g.60241114T>C Copied from the Exome Variant Server NDUFAF2_000002 1/13004 1/8598 0/4406
1 c.38G>C r.(?) p.(Arg13Thr) g.60241120G>C Copied from the Exome Variant Server NDUFAF2_000003 1/13000 1/8594 0/4406
1 c.50G>A r.(?) p.(Arg17Lys) g.60241132G>A Copied from the Exome Variant Server NDUFAF2_000004 1/12998 0/8592 1/4406
1 c.105C>T r.(=) p.(=) g.60241187C>T Copied from the Exome Variant Server NDUFAF2_000005 1/13006 1/8600 0/4406
1 c.110A>T r.(?) p.(Gln37Leu) g.60241192A>T Copied from the Exome Variant Server NDUFAF2_000006 1/13006 0/8600 1/4406
1 c.120C>T r.(=) p.(=) g.60241202C>T Copied from the Exome Variant Server NDUFAF2_000007 1/13006 0/8600 1/4406
1 c.127+32G>C r.(=) p.(=) g.60241241G>C Copied from the Exome Variant Server NDUFAF2_000008 338/13006 307/8600 31/4406
1 c.127+45A>T r.(=) p.(=) g.60241254A>T Copied from the Exome Variant Server NDUFAF2_000009 1/13006 1/8600 0/4406
1 c.127+49C>A r.(=) p.(=) g.60241258C>A Copied from the Exome Variant Server NDUFAF2_000010 1/13006 0/8600 1/4406
1 c.127+51G>A r.(=) p.(=) g.60241260G>A Copied from the Exome Variant Server NDUFAF2_000011 1/13006 1/8600 0/4406
1 c.127+8689T>C r.(=) p.(=) g.60249898T>C Copied from the Exome Variant Server NDUFAF2_000012 3/4566 0/3182 3/1384
1 c.127+12417G>A r.(=) p.(=) g.60253626G>A Copied from the Exome Variant Server NDUFAF2_000013 3/4566 3/3182 0/1384
1 c.127+12438C>T r.(=) p.(=) g.60253647C>T Copied from the Exome Variant Server NDUFAF2_000014 2/4566 2/3182 0/1384
1 c.127+12445A>G r.(=) p.(=) g.60253654A>G Copied from the Exome Variant Server NDUFAF2_000015 2/4566 0/3182 2/1384
1 c.127+12462T>C r.(=) p.(=) g.60253671T>C Copied from the Exome Variant Server NDUFAF2_000016 1/4566 1/3182 0/1384
1 c.127+12535A>G r.(=) p.(=) g.60253744A>G Copied from the Exome Variant Server NDUFAF2_000017 2/4566 1/3182 1/1384
1 c.128-52C>T r.(=) p.(=) g.60368900C>T Copied from the Exome Variant Server NDUFAF2_000018 12/10284 3/7148 9/3136
1 c.128-50A>G r.(=) p.(=) g.60368902A>G Copied from the Exome Variant Server NDUFAF2_000019 2/12948 2/8570 0/4378
1 c.128-44T>A r.(=) p.(=) g.60368908T>A Copied from the Exome Variant Server NDUFAF2_000020 2/12968 2/8576 0/4392
1 c.128-22A>G r.(=) p.(=) g.60368930A>G Copied from the Exome Variant Server NDUFAF2_000021 7/12992 0/8586 7/4406
1 c.128-3T>C r.spl? p.? g.60368949T>C Copied from the Exome Variant Server NDUFAF2_000022 2/12996 2/8590 0/4406
1 c.192A>G r.(=) p.(=) g.60369016A>G Copied from the Exome Variant Server NDUFAF2_000023 1/13000 0/8594 1/4406
1 c.217+42A>G r.(=) p.(=) g.60369083A>G Copied from the Exome Variant Server NDUFAF2_000024 7854/12996 5540/8590 2314/4406
1 c.218-47G>A r.(=) p.(=) g.60394772G>A Copied from the Exome Variant Server NDUFAF2_000025 73/12934 69/8550 4/4384
1 c.218-21A>G r.(=) p.(=) g.60394798A>G Copied from the Exome Variant Server NDUFAF2_000026 1/12966 0/8568 1/4398
1 c.218-20A>C r.(=) p.(=) g.60394799A>C Copied from the Exome Variant Server NDUFAF2_000027 6/12966 0/8568 6/4398
1 c.218-17A>T r.(=) p.(=) g.60394802A>T Copied from the Exome Variant Server NDUFAF2_000028 340/12962 310/8568 30/4394
1 c.258+18G>A r.(=) p.(=) g.60394877G>A Copied from the Exome Variant Server NDUFAF2_000029 1/12984 1/8578 0/4406
1 c.258+40T>C r.(=) p.(=) g.60394899T>C Copied from the Exome Variant Server NDUFAF2_000030 1/12982 1/8576 0/4406
1 c.258+79_258+80insT r.(=) p.(=) g.60394938_60394939insT Copied from the Exome Variant Server NDUFAF2_000031 1/12454 0/8214 1/4240
1 c.300A>T r.(=) p.(=) g.60448572A>T Copied from the Exome Variant Server NDUFAF2_000033 65/12808 1/8494 64/4314
1 c.338G>T r.(?) p.(Ser113Ile) g.60448610G>T Copied from the Exome Variant Server NDUFAF2_000034 1/12980 1/8578 0/4402
1 c.401C>G r.(?) p.(Ser134Cys) g.60448673C>G Copied from the Exome Variant Server NDUFAF2_000035 2/13006 0/8600 2/4406
1 c.412T>G r.(?) p.(Phe138Val) g.60448684T>G Copied from the Exome Variant Server NDUFAF2_000036 1/13004 1/8598 0/4406
1 c.447_448del r.(?) p.(Thr150Trpfs*2) g.60448719_60448720del Copied from the Exome Variant Server NDUFAF2_000037 1/12518 1/8252 0/4266
1 c.451G>A r.(?) p.(Gly151Ser) g.60448723G>A Copied from the Exome Variant Server NDUFAF2_000038 28/13004 27/8598 1/4406
1 c.459C>T r.(=) p.(=) g.60448731C>T Copied from the Exome Variant Server NDUFAF2_000039 1/13002 0/8596 1/4406
1 c.462T>C r.(=) p.(=) g.60448734T>C Copied from the Exome Variant Server NDUFAF2_000040 246/13000 4/8596 242/4404
1 c.485G>A r.(?) p.(Arg162Gln) g.60448757G>A Copied from the Exome Variant Server NDUFAF2_000041 1/13004 0/8600 1/4404
1 c.490del r.(?) p.(Gly164Alafs*25) g.60448762del Copied from the Exome Variant Server NDUFAF2_000042 1/12516 1/8254 0/4262
1 c.502A>T r.(?) p.(Asn168Tyr) g.60448774A>T Copied from the Exome Variant Server NDUFAF2_000043 1/13006 1/8600 0/4406
1 c.505C>G r.(?) p.(Gln169Glu) g.60448777C>G Copied from the Exome Variant Server NDUFAF2_000032 1/13006 1/8600 0/4406
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