Full data view for gene SFXN1

Information The variants shown are described using the NM_022754.5 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-9-43C>T r.(=) p.(=) g.174919055C>T Copied from the Exome Variant Server SFXN1_000001 2/5734 2/3982 0/1752 - - - - - - -
?/? c.-9-42A>G r.(=) p.(=) g.174919056A>G Copied from the Exome Variant Server SFXN1_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-9-35G>A r.(=) p.(=) g.174919063G>A Copied from the Exome Variant Server SFXN1_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-9-9T>C r.(=) p.(=) g.174919089T>C Copied from the Exome Variant Server SFXN1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-9-3C>T r.spl? p.? g.174919095C>T Copied from the Exome Variant Server SFXN1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.25A>T r.(?) p.(Ile9Phe) g.174919131A>T Copied from the Exome Variant Server SFXN1_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.65T>C r.(?) p.(Ile22Thr) g.174919171T>C Copied from the Exome Variant Server SFXN1_000007 21/13006 0/8600 21/4406 - - - - - - -
?/? c.66T>C r.(=) p.(=) g.174919172T>C Copied from the Exome Variant Server SFXN1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.77A>G r.(?) p.(Asn26Ser) g.174919183A>G Copied from the Exome Variant Server SFXN1_000009 72/13006 1/8600 71/4406 - - - - - - -
?/? c.86T>G r.(?) p.(Phe29Cys) g.174919192T>G Copied from the Exome Variant Server SFXN1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.100C>A r.(?) p.(Pro34Thr) g.174919206C>A Copied from the Exome Variant Server SFXN1_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.103A>G r.(?) p.(Arg35Gly) g.174919209A>G Copied from the Exome Variant Server SFXN1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.109A>G r.(?) p.(Ile37Val) g.174919215A>G Copied from the Exome Variant Server SFXN1_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.122A>G r.(?) p.(Asn41Ser) g.174919228A>G Copied from the Exome Variant Server SFXN1_000014 2/13006 0/8600 2/4406 - - - - - - -
?/? c.123C>T r.(=) p.(=) g.174919229C>T Copied from the Exome Variant Server SFXN1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.134A>G r.(?) p.(Glu45Gly) g.174919240A>G Copied from the Exome Variant Server SFXN1_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.137G>A r.(?) p.(Ser46Asn) g.174919243G>A Copied from the Exome Variant Server SFXN1_000017 19/13006 0/8600 19/4406 - - - - - - -
?/? c.141G>A r.(=) p.(=) g.174919247G>A Copied from the Exome Variant Server SFXN1_000018 51/13006 0/8600 51/4406 - - - - - - -
?/? c.157G>A r.(?) p.(Asp53Asn) g.174919263G>A Copied from the Exome Variant Server SFXN1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.164+6_164+9del r.(=) p.(=) g.174919276_174919279del Copied from the Exome Variant Server SFXN1_000020 1/12518 0/8254 1/4264 - - - - - - -
?/? c.164+10A>G r.(=) p.(=) g.174919280A>G Copied from the Exome Variant Server SFXN1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.164+33A>C r.(=) p.(=) g.174919303A>C Copied from the Exome Variant Server SFXN1_000022 1/13004 0/8598 1/4406 - - - - - - -
?/? c.168A>G r.(=) p.(=) g.174936038A>G Copied from the Exome Variant Server SFXN1_000023 689/13006 634/8600 55/4406 - - - - - - -
?/? c.219C>A r.(?) p.(Tyr73*) g.174936089C>A Copied from the Exome Variant Server SFXN1_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.229T>G r.(?) p.(Ser77Ala) g.174936099T>G Copied from the Exome Variant Server SFXN1_000026 3/13006 3/8600 0/4406 - - - - - - -
?/? c.279G>A r.(?) p.(Met93Ile) g.174936149G>A Copied from the Exome Variant Server SFXN1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.327G>A r.(=) p.(=) g.174936197G>A Copied from the Exome Variant Server SFXN1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.335+7T>C r.(=) p.(=) g.174936212T>C Copied from the Exome Variant Server SFXN1_000031 5/13006 0/8600 5/4406 - - - - - - -
?/? c.335+28T>C r.(=) p.(=) g.174936233T>C Copied from the Exome Variant Server SFXN1_000033 13/13006 7/8600 6/4406 - - - - - - -
?/? c.336-48C>A r.(=) p.(=) g.174937064C>A Copied from the Exome Variant Server SFXN1_000035 666/13006 9/8600 657/4406 - - - - - - -
?/? c.336-47G>A r.(=) p.(=) g.174937065G>A Copied from the Exome Variant Server SFXN1_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.336-37A>G r.(=) p.(=) g.174937075A>G Copied from the Exome Variant Server SFXN1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.336-17G>A r.(=) p.(=) g.174937095G>A Copied from the Exome Variant Server SFXN1_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.378C>T r.(=) p.(=) g.174937154C>T Copied from the Exome Variant Server SFXN1_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.383A>G r.(?) p.(Asn128Ser) g.174937159A>G Copied from the Exome Variant Server SFXN1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.390C>T r.(=) p.(=) g.174937166C>T Copied from the Exome Variant Server SFXN1_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.174937193C>T Copied from the Exome Variant Server SFXN1_000036 2901/13006 1240/8600 1661/4406 - - - - - - -
?/? c.434+11G>A r.(=) p.(=) g.174937221G>A Copied from the Exome Variant Server SFXN1_000038 6/13006 3/8600 3/4406 - - - - - - -
?/? c.434+26T>A r.(=) p.(=) g.174937236T>A Copied from the Exome Variant Server SFXN1_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.435-17T>C r.(=) p.(=) g.174938437T>C Copied from the Exome Variant Server SFXN1_000040 3/13006 0/8600 3/4406 - - - - - - -
?/? c.435-10T>A r.(=) p.(=) g.174938444T>A Copied from the Exome Variant Server SFXN1_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.435-8del r.(=) p.(=) g.174938446del Copied from the Exome Variant Server SFXN1_000042 24/12518 22/8254 2/4264 - - - - - - -
?/? c.435T>C r.(=) p.(=) g.174938454T>C Copied from the Exome Variant Server SFXN1_000043 10/13006 10/8600 0/4406 - - - - - - -
?/? c.459T>G r.(=) p.(=) g.174938478T>G Copied from the Exome Variant Server SFXN1_000044 3/13006 3/8600 0/4406 - - - - - - -
?/? c.475G>A r.(?) p.(Val159Ile) g.174938494G>A Copied from the Exome Variant Server SFXN1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.478G>A r.(?) p.(Ala160Thr) g.174938497G>A Copied from the Exome Variant Server SFXN1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.497A>G r.(?) p.(Asn166Ser) g.174938516A>G Copied from the Exome Variant Server SFXN1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.510+37A>C r.(=) p.(=) g.174938566A>C Copied from the Exome Variant Server SFXN1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.511-36A>G r.(=) p.(=) g.174939078A>G Copied from the Exome Variant Server SFXN1_000054 71/13004 1/8598 70/4406 - - - - - - -
?/? c.511-8C>T r.(=) p.(=) g.174939106C>T Copied from the Exome Variant Server SFXN1_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.596+12A>G r.(=) p.(=) g.174939211A>G Copied from the Exome Variant Server SFXN1_000058 2/13006 0/8600 2/4406 - - - - - - -
?/? c.596+15C>T r.(=) p.(=) g.174939214C>T Copied from the Exome Variant Server SFXN1_000060 2916/13006 1240/8600 1676/4406 - - - - - - -
?/? c.596+27G>A r.(=) p.(=) g.174939226G>A Copied from the Exome Variant Server SFXN1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.596+31_596+32del r.(=) p.(=) g.174939230_174939231del Copied from the Exome Variant Server SFXN1_000064 10/12518 0/8254 10/4264 - - - - - - -
?/? c.596+44G>C r.(=) p.(=) g.174939243G>C Copied from the Exome Variant Server SFXN1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.597-29G>A r.(=) p.(=) g.174940437G>A Copied from the Exome Variant Server SFXN1_000068 45/13006 40/8600 5/4406 - - - - - - -
?/? c.597-9G>A r.(=) p.(=) g.174940457G>A Copied from the Exome Variant Server SFXN1_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.604A>G r.(?) p.(Lys202Glu) g.174940473A>G Copied from the Exome Variant Server SFXN1_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.174940490C>T Copied from the Exome Variant Server SFXN1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.624G>A r.(=) p.(=) g.174940493G>A Copied from the Exome Variant Server SFXN1_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.641G>A r.(?) p.(Arg214His) g.174940510G>A Copied from the Exome Variant Server SFXN1_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.643T>C r.(=) p.(=) g.174940512T>C Copied from the Exome Variant Server SFXN1_000055 2/13006 2/8600 0/4406 - - - - - - -
?/? c.646G>A r.(?) p.(Gly216Arg) g.174940515G>A Copied from the Exome Variant Server SFXN1_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656C>T r.(?) p.(Ala219Val) g.174940525C>T Copied from the Exome Variant Server SFXN1_000059 3/13006 0/8600 3/4406 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.174940529C>T Copied from the Exome Variant Server SFXN1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.681G>A r.(=) p.(=) g.174940550G>A Copied from the Exome Variant Server SFXN1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.688G>A r.(?) p.(Val230Ile) g.174940557G>A Copied from the Exome Variant Server SFXN1_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.725-65_725-64del r.(=) p.(=) g.174943552_174943553del Copied from the Exome Variant Server SFXN1_000067 9/12518 7/8254 2/4264 - - - - - - -
?/? c.725-64del r.(=) p.(=) g.174943553del Copied from the Exome Variant Server SFXN1_000070 2500/12518 1649/8254 851/4264 - - - - - - -
?/? c.725-64dup r.(=) p.(=) g.174943553dup Copied from the Exome Variant Server SFXN1_000069 25/12518 23/8254 2/4264 - - - - - - -
?/? c.725-7T>C r.(=) p.(=) g.174943610T>C Copied from the Exome Variant Server SFXN1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.774+44C>A r.(=) p.(=) g.174943710C>A Copied from the Exome Variant Server SFXN1_000072 35/13006 31/8600 4/4406 - - - - - - -
?/? c.774+75G>C r.(=) p.(=) g.174943741G>C Copied from the Exome Variant Server SFXN1_000073 7/4566 0/3182 7/1384 - - - - - - -
?/? c.775-55T>C r.(=) p.(=) g.174948867T>C Copied from the Exome Variant Server SFXN1_000074 1/4566 0/3182 1/1384 - - - - - - -
?/? c.775-42C>T r.(=) p.(=) g.174948880C>T Copied from the Exome Variant Server SFXN1_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.775-13del r.(=) p.(=) g.174948909del Copied from the Exome Variant Server SFXN1_000076 148/12518 107/8254 41/4264 - - - - - - -
?/? c.783A>G r.(=) p.(=) g.174948930A>G Copied from the Exome Variant Server SFXN1_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.796C>T r.(?) p.(Pro266Ser) g.174948943C>T Copied from the Exome Variant Server SFXN1_000078 53/13006 50/8600 3/4406 - - - - - - -
?/? c.809G>A r.(?) p.(Gly270Glu) g.174948956G>A Copied from the Exome Variant Server SFXN1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.824+33C>A r.(=) p.(=) g.174949004C>A Copied from the Exome Variant Server SFXN1_000080 1/13000 1/8596 0/4404 - - - - - - -
?/? c.824+56G>A r.(=) p.(=) g.174949027G>A Copied from the Exome Variant Server SFXN1_000081 2/4566 1/3182 1/1384 - - - - - - -
?/? c.825-76_825-71del r.(=) p.(=) g.174949302_174949307del Copied from the Exome Variant Server SFXN1_000082 3/12450 3/8230 0/4220 - - - - - - -
?/? c.825-23del r.(=) p.(=) g.174949355del Copied from the Exome Variant Server SFXN1_000083 1/12518 1/8254 0/4264 - - - - - - -
?/? c.850T>C r.(?) p.(Cys284Arg) g.174949403T>C Copied from the Exome Variant Server SFXN1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.872+24A>G r.(=) p.(=) g.174949449A>G Copied from the Exome Variant Server SFXN1_000085 18/13006 16/8600 2/4406 - - - - - - -
?/? c.872+37T>G r.(=) p.(=) g.174949462T>G Copied from the Exome Variant Server SFXN1_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.872+45A>G r.(=) p.(=) g.174949470A>G Copied from the Exome Variant Server SFXN1_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.872+50C>A r.(=) p.(=) g.174949475C>A Copied from the Exome Variant Server SFXN1_000088 464/13006 83/8600 381/4406 - - - - - - -
?/? c.872+60G>A r.(=) p.(=) g.174949485G>A Copied from the Exome Variant Server SFXN1_000089 1/4566 1/3182 0/1384 - - - - - - -
?/? c.873-38G>A r.(=) p.(=) g.174953603G>A Copied from the Exome Variant Server SFXN1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.873-30A>G r.(=) p.(=) g.174953611A>G Copied from the Exome Variant Server SFXN1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.924G>A r.(=) p.(=) g.174953692G>A Copied from the Exome Variant Server SFXN1_000092 4/13006 0/8600 4/4406 - - - - - - -
?/? c.929A>G r.(?) p.(His310Arg) g.174953697A>G Copied from the Exome Variant Server SFXN1_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.944G>A r.(?) p.(Arg315His) g.174953712G>A Copied from the Exome Variant Server SFXN1_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*6G>A r.(=) p.(=) g.174953743G>A Copied from the Exome Variant Server SFXN1_000095 3007/13006 1243/8600 1764/4406 - - - - - - -
?/? c.*9G>C r.(=) p.(=) g.174953746G>C Copied from the Exome Variant Server SFXN1_000096 10/13006 10/8600 0/4406 - - - - - - -
?/? c.*19G>A r.(=) p.(=) g.174953756G>A Copied from the Exome Variant Server SFXN1_000097 4/13006 4/8600 0/4406 - - - - - - -
?/? c.*40A>C r.(=) p.(=) g.174953777A>C Copied from the Exome Variant Server SFXN1_000098 82/13006 0/8600 82/4406 - - - - - - -
?/? c.*51G>A r.(=) p.(=) g.174953788G>A Copied from the Exome Variant Server SFXN1_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*54A>G r.(=) p.(=) g.174953791A>G Copied from the Exome Variant Server SFXN1_000100 57/4566 0/3182 57/1384 - - - - - - -
Legend