All transcript variants in gene FDX1

Information The variants shown are described using the NM_004109.4 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.186-35T>G r.(=) p.(=) g.110306523T>G Copied from the Exome Variant Server FDX1_000001 68/12914 2/8548 66/4366
?/? c.186-13del r.(=) p.(=) g.110306545del Copied from the Exome Variant Server FDX1_000003 55/12510 31/8248 24/4262
?/? c.186-13dup r.(=) p.(=) g.110306545dup Copied from the Exome Variant Server FDX1_000002 76/12510 47/8248 29/4262
?/? c.219C>A r.(?) p.(Asn73Lys) g.110306591C>A Copied from the Exome Variant Server FDX1_000004 1/12998 0/8596 1/4402
?/? c.220C>T r.(?) p.(Arg74Cys) g.110306592C>T Copied from the Exome Variant Server FDX1_000005 1/12998 1/8596 0/4402
?/? c.239C>A r.(?) p.(Thr80Lys) g.110306611C>A Copied from the Exome Variant Server FDX1_000006 1/12996 0/8596 1/4400
?/? c.243C>T r.(=) p.(=) g.110306615C>T Copied from the Exome Variant Server FDX1_000007 2/12996 1/8596 1/4400
?/? c.254T>C r.(?) p.(Val85Ala) g.110306626T>C Copied from the Exome Variant Server FDX1_000008 9/12996 0/8596 9/4400
?/? c.303T>C r.(=) p.(=) g.110306675T>C Copied from the Exome Variant Server FDX1_000009 9/12994 0/8592 9/4402
?/? c.310+28A>G r.(=) p.(=) g.110306710A>G Copied from the Exome Variant Server FDX1_000010 1/12996 1/8594 0/4402
?/? c.310+45G>T r.(=) p.(=) g.110306727G>T Copied from the Exome Variant Server FDX1_000011 2006/12996 1561/8594 445/4402
?/? c.311-46G>A r.(=) p.(=) g.110327596G>A Copied from the Exome Variant Server FDX1_000012 2/12998 2/8596 0/4402
?/? c.311-27A>G r.(=) p.(=) g.110327615A>G Copied from the Exome Variant Server FDX1_000013 1/12998 0/8596 1/4402
?/? c.311-15T>C r.(=) p.(=) g.110327627T>C Copied from the Exome Variant Server FDX1_000014 11/12998 0/8596 11/4402
?/? c.388A>G r.(?) p.(Ile130Val) g.110327719A>G Copied from the Exome Variant Server FDX1_000015 9/12998 7/8596 2/4402
?/? c.403A>T r.(?) p.(Asn135Tyr) g.110327734A>T Copied from the Exome Variant Server FDX1_000016 1/12998 0/8596 1/4402
?/? c.414C>T r.(=) p.(=) g.110327745C>T Copied from the Exome Variant Server FDX1_000017 6/12998 2/8596 4/4402
?/? c.415G>T r.(?) p.(Asp139Tyr) g.110327746G>T Copied from the Exome Variant Server FDX1_000018 1/12998 1/8596 0/4402
?/? c.423A>G r.(=) p.(=) g.110327754A>G Copied from the Exome Variant Server FDX1_000019 1/12998 1/8596 0/4402
?/? c.428G>C r.(?) p.(Gly143Ala) g.110327759G>C Copied from the Exome Variant Server FDX1_000020 2/12998 0/8596 2/4402
?/? c.430C>T r.(=) p.(=) g.110327761C>T Copied from the Exome Variant Server FDX1_000021 4/12998 4/8596 0/4402
?/? c.440+20T>C r.(=) p.(=) g.110327791T>C Copied from the Exome Variant Server FDX1_000022 1/12998 0/8596 1/4402
?/? c.440+38T>C r.(=) p.(=) g.110327809T>C Copied from the Exome Variant Server FDX1_000024 2/12998 2/8596 0/4402
?/? c.441-48_441-47insAT r.(=) p.(=) g.110333030_110333031insAT Copied from the Exome Variant Server FDX1_000026 795/12518 612/8254 183/4264
?/? c.445C>T r.(?) p.(Arg149Trp) g.110333082C>T Copied from the Exome Variant Server FDX1_000028 1/12998 0/8596 1/4402
?/? c.468G>A r.(=) p.(=) g.110333105G>A Copied from the Exome Variant Server FDX1_000023 1/12998 0/8596 1/4402
?/? c.498A>T r.(=) p.(=) g.110333135A>T Copied from the Exome Variant Server FDX1_000025 1/12992 0/8590 1/4402
?/? c.521C>T r.(?) p.(Ala174Val) g.110333158C>T Copied from the Exome Variant Server FDX1_000027 1/12986 1/8584 0/4402
?/? c.546G>T r.(?) p.(Lys182Asn) g.110333183G>T Copied from the Exome Variant Server FDX1_000029 1/12966 0/8566 1/4400
?/? c.*48_*50del r.(=) p.(=) g.110333240_110333242del Copied from the Exome Variant Server FDX1_000030 13/12310 1/8164 12/4146
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