Unique variants in gene SFXN4

Information The variants shown are described using the NM_213649.1 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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.-21G>T r.(=) p.(=) g.120925180C>A Copied from the Exome Variant Server SFXN4_000092 10/12990 0/8588 10/4402
1 c.-5G>C r.(=) p.(=) g.120925164C>G Copied from the Exome Variant Server SFXN4_000091 4/13006 0/8600 4/4406
1 c.7C>T r.(=) p.(=) g.120925153G>A Copied from the Exome Variant Server SFXN4_000090 54/13006 0/8600 54/4406
1 c.18G>A r.(=) p.(=) g.120925142C>T Copied from the Exome Variant Server SFXN4_000089 20/13006 18/8600 2/4406
1 c.32del r.(?) p.(Pro11Leufs*5) g.120925128del Copied from the Exome Variant Server SFXN4_000088 1/12518 1/8254 0/4264
1 c.39G>C r.(=) p.(=) g.120925121C>G Copied from the Exome Variant Server SFXN4_000087 1/13006 1/8600 0/4406
1 c.57C>T r.(=) p.(=) g.120925103G>A Copied from the Exome Variant Server SFXN4_000086 4/13006 4/8600 0/4406
1 c.83A>G r.(?) p.(Asn28Ser) g.120925077T>C Copied from the Exome Variant Server SFXN4_000085 1/13006 0/8600 1/4406
1 c.103G>A r.(?) p.(Glu35Lys) g.120925057C>T Copied from the Exome Variant Server SFXN4_000084 1/13006 0/8600 1/4406
1 c.111+41C>T r.(=) p.(=) g.120925008G>A Copied from the Exome Variant Server SFXN4_000083 1/12906 0/8524 1/4382
1 c.112-27C>G r.(=) p.(=) g.120923735G>C Copied from the Exome Variant Server SFXN4_000082 1/13006 0/8600 1/4406
1 c.154C>G r.(?) p.(Pro52Ala) g.120923666G>C Copied from the Exome Variant Server SFXN4_000081 4/13004 4/8598 0/4406
1 c.177+25G>C r.(=) p.(=) g.120923618C>G Copied from the Exome Variant Server SFXN4_000080 1/13006 1/8600 0/4406
1 c.178-56G>A r.(=) p.(=) g.120921982C>T Copied from the Exome Variant Server SFXN4_000079 1/4566 1/3182 0/1384
1 c.204A>G r.(=) p.(=) g.120921900T>C Copied from the Exome Variant Server SFXN4_000078 92/13006 0/8600 92/4406
1 c.246C>G r.(?) p.(Asp82Glu) g.120921858G>C Copied from the Exome Variant Server SFXN4_000077 1/13006 0/8600 1/4406
1 c.252+12G>A r.(=) p.(=) g.120921840C>T Copied from the Exome Variant Server SFXN4_000076 1/13006 0/8600 1/4406
1 c.252+22C>T r.(=) p.(=) g.120921830G>A Copied from the Exome Variant Server SFXN4_000075 1/13006 1/8600 0/4406
1 c.252+40A>G r.(=) p.(=) g.120921812T>C Copied from the Exome Variant Server SFXN4_000074 2/13006 2/8600 0/4406
1 c.253-20A>G r.(=) p.(=) g.120920613T>C Copied from the Exome Variant Server SFXN4_000073 2/13006 2/8600 0/4406
1 c.258A>G r.(=) p.(=) g.120920588T>C Copied from the Exome Variant Server SFXN4_000072 6072/13006 4171/8600 1901/4406
1 c.299G>C r.(?) p.(Ser100Thr) g.120920462C>G Copied from the Exome Variant Server SFXN4_000071 1/13006 0/8600 1/4406
1 c.317A>G r.(?) p.(Lys106Arg) g.120920444T>C Copied from the Exome Variant Server SFXN4_000070 1/13006 0/8600 1/4406
1 c.325C>T r.(?) p.(Arg109*) g.120920436G>A Copied from the Exome Variant Server SFXN4_000069 1/13006 1/8600 0/4406
1 c.334+28G>T r.(=) p.(=) g.120920399C>A Copied from the Exome Variant Server SFXN4_000068 1/13006 0/8600 1/4406
1 c.334+41T>C r.(=) p.(=) g.120920386A>G Copied from the Exome Variant Server SFXN4_000067 1/13006 1/8600 0/4406
1 c.334+42A>G r.(=) p.(=) g.120920385T>C Copied from the Exome Variant Server SFXN4_000066 2/13006 0/8600 2/4406
1 c.334+48T>C r.(=) p.(=) g.120920379A>G Copied from the Exome Variant Server SFXN4_000065 6/13006 6/8600 0/4406
1 c.334+47_334+49del r.(=) p.(=) g.120920378_120920380del Copied from the Exome Variant Server SFXN4_000064 2/12518 2/8254 0/4264
1 c.334+51C>T r.(=) p.(=) g.120920376G>A Copied from the Exome Variant Server SFXN4_000063 1/13006 1/8600 0/4406
1 c.335-23C>T r.(=) p.(=) g.120919288G>A Copied from the Exome Variant Server SFXN4_000062 1/13006 0/8600 1/4406
1 c.335-7C>T r.(=) p.(=) g.120919272G>A Copied from the Exome Variant Server SFXN4_000061 2/13006 0/8600 2/4406
1 c.354A>G N/A N/A g.120919246T>C Copied from the Exome Variant Server SFXN4_000060 12774/13006 8591/8600 4183/4406
1 c.360+6C>G r.(=) p.(=) g.120919234G>C Copied from the Exome Variant Server SFXN4_000059 44/13006 0/8600 44/4406
1 c.360+21C>T r.(=) p.(=) g.120919219G>A Copied from the Exome Variant Server SFXN4_000058 18/13006 1/8600 17/4406
1 c.360+26G>C r.(=) p.(=) g.120919214C>G Copied from the Exome Variant Server SFXN4_000057 1/13006 0/8600 1/4406
1 c.360+59C>A r.(=) p.(=) g.120919181G>T Copied from the Exome Variant Server SFXN4_000056 11/4566 0/3182 11/1384
1 c.360+61C>T r.(=) p.(=) g.120919179G>A Copied from the Exome Variant Server SFXN4_000055 2190/4566 1577/3182 613/1384
1 c.361-42C>T r.(=) p.(=) g.120917616G>A Copied from the Exome Variant Server SFXN4_000054 3752/13006 3032/8600 720/4406
1 c.361-11C>T r.(=) p.(=) g.120917585G>A Copied from the Exome Variant Server SFXN4_000053 1/13006 0/8600 1/4406
1 c.377C>T r.(?) p.(Thr126Met) g.120917558G>A Copied from the Exome Variant Server SFXN4_000052 1/13006 1/8600 0/4406
1 c.400G>A r.(?) p.(Val134Met) g.120917535C>T Copied from the Exome Variant Server SFXN4_000051 1/13006 0/8600 1/4406
1 c.410C>T r.(?) p.(Pro137Leu) g.120917525G>A Copied from the Exome Variant Server SFXN4_000050 1/13006 1/8600 0/4406
1 c.414+13C>T r.(=) p.(=) g.120917508G>A Copied from the Exome Variant Server SFXN4_000049 1/13006 1/8600 0/4406
1 c.415-32C>T r.(=) p.(=) g.120917471G>A Copied from the Exome Variant Server SFXN4_000048 105/13006 0/8600 105/4406
1 c.415-31G>A r.(=) p.(=) g.120917470C>T Copied from the Exome Variant Server SFXN4_000046 2/13006 2/8600 0/4406
1 c.415-24C>T r.(=) p.(=) g.120917463G>A Copied from the Exome Variant Server SFXN4_000047 16/13006 0/8600 16/4406
1 c.415-11C>T r.(=) p.(=) g.120917450G>A Copied from the Exome Variant Server SFXN4_000045 1/13006 1/8600 0/4406
1 c.415-6C>T r.(=) p.(=) g.120917445G>A Copied from the Exome Variant Server SFXN4_000044 6274/13006 4306/8600 1968/4406
1 c.441G>A r.(=) p.(=) g.120917413C>T Copied from the Exome Variant Server SFXN4_000043 1/13006 1/8600 0/4406
1 c.445A>G r.(?) p.(Asn149Asp) g.120917409T>C Copied from the Exome Variant Server SFXN4_000042 1/13006 1/8600 0/4406
1 c.471C>T r.(=) p.(=) g.120917383G>A Copied from the Exome Variant Server SFXN4_000041 1/13006 1/8600 0/4406
1 c.471+1G>A r.spl? p.? g.120917382C>T Copied from the Exome Variant Server SFXN4_000040 1/13006 1/8600 0/4406
1 c.471+38G>A r.(=) p.(=) g.120917345C>T Copied from the Exome Variant Server SFXN4_000039 15/13006 0/8600 15/4406
1 c.472-24T>A r.(=) p.(=) g.120917269A>T Copied from the Exome Variant Server SFXN4_000038 12803/13006 8592/8600 4211/4406
1 c.498A>G r.(=) p.(=) g.120917219T>C Copied from the Exome Variant Server SFXN4_000037 1/13006 1/8600 0/4406
1 c.506C>T r.(?) p.(Ala169Val) g.120917211G>A Copied from the Exome Variant Server SFXN4_000036 1/13000 0/8598 1/4402
1 c.522T>C r.(=) p.(=) g.120917195A>G Copied from the Exome Variant Server SFXN4_000035 1/13000 1/8596 0/4404
1 c.537+33T>C r.(=) p.(=) g.120917147A>G Copied from the Exome Variant Server SFXN4_000034 1/12986 1/8594 0/4392
1 c.538-51C>T r.(=) p.(=) g.120916319G>A Copied from the Exome Variant Server SFXN4_000033 191/13002 4/8598 187/4404
1 c.538-26_538-24del r.(=) p.(=) g.120916292_120916294del Copied from the Exome Variant Server SFXN4_000032 1/12518 1/8254 0/4264
1 c.576T>C r.(=) p.(=) g.120916230A>G Copied from the Exome Variant Server SFXN4_000031 1/13006 1/8600 0/4406
1 c.616+46G>C r.(=) p.(=) g.120916144C>G Copied from the Exome Variant Server SFXN4_000030 6/13004 0/8600 6/4404
1 c.617-34G>A r.(=) p.(=) g.120914723C>T Copied from the Exome Variant Server SFXN4_000029 47/13006 46/8600 1/4406
1 c.617-3C>T r.spl? p.? g.120914692G>A Copied from the Exome Variant Server SFXN4_000028 3697/13006 2970/8600 727/4406
1 c.617-2A>G r.spl? p.? g.120914691T>C Copied from the Exome Variant Server SFXN4_000027 1/13006 1/8600 0/4406
1 c.660A>G r.(=) p.(=) g.120914646T>C Copied from the Exome Variant Server SFXN4_000026 1/13006 0/8600 1/4406
1 c.677C>T r.(?) p.(Ala226Val) g.120914629G>A Copied from the Exome Variant Server SFXN4_000025 2/13006 1/8600 1/4406
1 c.678G>A r.(=) p.(=) g.120914628C>T Copied from the Exome Variant Server SFXN4_000024 146/13006 2/8600 144/4406
1 c.702C>G r.(=) p.(=) g.120914604G>C Copied from the Exome Variant Server SFXN4_000023 1/13006 0/8600 1/4406
1 c.703C>T r.(=) p.(=) g.120914603G>A Copied from the Exome Variant Server SFXN4_000022 10/13006 0/8600 10/4406
1 c.708T>G r.(=) p.(=) g.120914598A>C Copied from the Exome Variant Server SFXN4_000021 3/13006 0/8600 3/4406
1 c.733-50G>T r.(=) p.(=) g.120907422C>A Copied from the Exome Variant Server SFXN4_000020 78/13006 1/8600 77/4406
1 c.733-49C>T r.(=) p.(=) g.120907421G>A Copied from the Exome Variant Server SFXN4_000019 1/13006 0/8600 1/4406
1 c.733-39_733-38insC r.(=) p.(=) g.120907410_120907411insG Copied from the Exome Variant Server SFXN4_000018 1/12518 0/8254 1/4264
1 c.733-4C>G r.spl? p.? g.120907376G>C Copied from the Exome Variant Server SFXN4_000017 2/13006 2/8600 0/4406
1 c.733-2A>G r.spl? p.? g.120907374T>C Copied from the Exome Variant Server SFXN4_000016 1/13006 0/8600 1/4406
1 c.740G>A r.(?) p.(Arg247Lys) g.120907365C>T Copied from the Exome Variant Server SFXN4_000015 2/13006 0/8600 2/4406
1 c.747G>A r.(=) p.(=) g.120907358C>T Copied from the Exome Variant Server SFXN4_000014 9/13006 9/8600 0/4406
1 c.750A>G r.(=) p.(=) g.120907355T>C Copied from the Exome Variant Server SFXN4_000013 10/13006 0/8600 10/4406
1 c.795A>T r.(?) p.(Glu265Asp) g.120907310T>A Copied from the Exome Variant Server SFXN4_000012 2/13006 2/8600 0/4406
1 c.818+12G>A r.(=) p.(=) g.120907275C>T Copied from the Exome Variant Server SFXN4_000011 1/13006 1/8600 0/4406
1 c.830T>C r.(?) p.(Phe277Ser) g.120905854A>G Copied from the Exome Variant Server SFXN4_000010 1/13006 1/8600 0/4406
1 c.936+8C>A r.(=) p.(=) g.120905740G>T Copied from the Exome Variant Server SFXN4_000009 3/13006 0/8600 3/4406
1 c.936+11C>T r.(=) p.(=) g.120905737G>A Copied from the Exome Variant Server SFXN4_000008 1/13006 1/8600 0/4406
1 c.937-64_937-63insT r.(=) p.(=) g.120900894_120900895insA Copied from the Exome Variant Server SFXN4_000007 8/12452 6/8236 2/4216
1 c.937-9A>G r.(=) p.(=) g.120900840T>C Copied from the Exome Variant Server SFXN4_000006 2/13006 2/8600 0/4406
1 c.988G>A r.(?) p.(Glu330Lys) g.120900780C>T Copied from the Exome Variant Server SFXN4_000005 1/13006 0/8600 1/4406
1 c.1009G>C r.(?) p.(Val337Leu) g.120900759C>G Copied from the Exome Variant Server SFXN4_000004 1/13006 1/8600 0/4406
1 c.*2C>T r.(=) p.(=) g.120900752G>A Copied from the Exome Variant Server SFXN4_000003 4/13006 4/8600 0/4406
1 c.*3G>A r.(=) p.(=) g.120900751C>T Copied from the Exome Variant Server SFXN4_000002 1/13006 0/8600 1/4406
1 c.*61G>C r.(=) p.(=) g.120900693C>G Copied from the Exome Variant Server SFXN4_000001 1/4566 1/3182 0/1384
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