Full data view for gene FAS

Information The variants shown are described using the NM_000043.4 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
Legend  

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.-56del r.(=) p.(=) g.90750578del Copied from the Exome Variant Server FAS_000001 46/12518 0/8254 46/4264 - - - - - - -
?/? c.-34A>G r.(=) p.(=) g.90750600A>G Copied from the Exome Variant Server FAS_000002 427/13006 134/8600 293/4406 - - - - - - -
?/? c.-15_-13del r.(=) p.(=) g.90750619_90750621del Copied from the Exome Variant Server FAS_000003 1/12518 1/8254 0/4264 - - - - - - -
?/? c.-10C>A r.(=) p.(=) g.90750624C>A Copied from the Exome Variant Server FAS_000004 5/13006 5/8600 0/4406 - - - - - - -
?/? c.30+19G>A r.(=) p.(=) g.90750682G>A Copied from the Exome Variant Server FAS_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.30+24G>C r.(=) p.(=) g.90750687G>C Copied from the Exome Variant Server FAS_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.30+36G>A r.(=) p.(=) g.90750699G>A Copied from the Exome Variant Server FAS_000007 2/13006 0/8600 2/4406 - - - - - - -
?/? c.30+40T>C r.(=) p.(=) g.90750703T>C Copied from the Exome Variant Server FAS_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.30+50G>C r.(=) p.(=) g.90750713G>C Copied from the Exome Variant Server FAS_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.31-32A>C r.(=) p.(=) g.90762754A>C Copied from the Exome Variant Server FAS_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.33T>A r.(=) p.(=) g.90762788T>A Copied from the Exome Variant Server FAS_000011 17/13006 0/8600 17/4406 - - - - - - -
?/? c.38C>T r.(?) p.(Thr13Met) g.90762793C>T Copied from the Exome Variant Server FAS_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.39G>A r.(=) p.(=) g.90762794G>A Copied from the Exome Variant Server FAS_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.46G>A r.(?) p.(Ala16Thr) g.90762801G>A Copied from the Exome Variant Server FAS_000014 524/13006 9/8600 515/4406 - - - - - - -
?/? c.103T>C r.(=) p.(=) g.90762858T>C Copied from the Exome Variant Server FAS_000015 5/13006 4/8600 1/4406 - - - - - - -
?/? c.141G>A r.(=) p.(=) g.90762896G>A Copied from the Exome Variant Server FAS_000016 288/13006 5/8600 283/4406 - - - - - - -
?/? c.163G>C r.(?) p.(Asp55His) g.90762918G>C Copied from the Exome Variant Server FAS_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.183G>A r.(=) p.(=) g.90762938G>A Copied from the Exome Variant Server FAS_000018 80/13006 77/8600 3/4406 - - - - - - -
?/? c.196+3A>C r.spl? p.? g.90762954A>C Copied from the Exome Variant Server FAS_000019 2/13006 1/8600 1/4406 - - - - - - -
?/? c.197-41C>T r.(=) p.(=) g.90767416C>T Copied from the Exome Variant Server FAS_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.197-33G>T r.(=) p.(=) g.90767424G>T Copied from the Exome Variant Server FAS_000021 12/13006 4/8600 8/4406 - - - - - - -
?/? c.222A>G r.(=) p.(=) g.90767482A>G Copied from the Exome Variant Server FAS_000022 421/13006 384/8600 37/4406 - - - - - - -
?/? c.334+11T>C r.(=) p.(=) g.90767605T>C Copied from the Exome Variant Server FAS_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.334+34A>G r.(=) p.(=) g.90767628A>G Copied from the Exome Variant Server FAS_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.334+46C>T r.(=) p.(=) g.90767640C>T Copied from the Exome Variant Server FAS_000025 1868/13006 904/8600 964/4406 - - - - - - -
?/? c.335-35C>T r.(=) p.(=) g.90768611C>T Copied from the Exome Variant Server FAS_000026 2/13006 2/8600 0/4406 - - - - - - -
?/? c.335-34G>T r.(=) p.(=) g.90768612G>T Copied from the Exome Variant Server FAS_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.335-10G>T r.(=) p.(=) g.90768636G>T Copied from the Exome Variant Server FAS_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.335-9A>G r.(=) p.(=) g.90768637A>G Copied from the Exome Variant Server FAS_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.365C>T r.(?) p.(Thr122Ile) g.90768676C>T Copied from the Exome Variant Server FAS_000030 122/13006 4/8600 118/4406 - - - - - - -
?/? c.369G>A r.(=) p.(=) g.90768680G>A Copied from the Exome Variant Server FAS_000031 79/13006 72/8600 7/4406 - - - - - - -
?/? c.391C>A r.(?) p.(Pro131Thr) g.90768702C>A Copied from the Exome Variant Server FAS_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.398T>A r.(?) p.(Phe133Tyr) g.90768709T>A Copied from the Exome Variant Server FAS_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.443+51A>G r.(=) p.(=) g.90768805A>G Copied from the Exome Variant Server FAS_000034 10/13006 0/8600 10/4406 - - - - - - -
?/? c.444-37C>T r.(=) p.(=) g.90770259C>T Copied from the Exome Variant Server FAS_000035 1/13004 1/8600 0/4404 - - - - - - -
?/? c.444-15T>C r.(=) p.(=) g.90770281T>C Copied from the Exome Variant Server FAS_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.444-13del r.(=) p.(=) g.90770283del Copied from the Exome Variant Server FAS_000038 11/12518 6/8254 5/4264 - - - - - - -
?/? c.444-13dup r.(=) p.(=) g.90770283dup Copied from the Exome Variant Server FAS_000037 19/12518 10/8254 9/4264 - - - - - - -
?/? c.444-10T>A r.(=) p.(=) g.90770286T>A Copied from the Exome Variant Server FAS_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.477C>G r.(=) p.(=) g.90770329C>G Copied from the Exome Variant Server FAS_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.499G>A r.(?) p.(Glu167Lys) g.90770351G>A Copied from the Exome Variant Server FAS_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.505+14T>G r.(=) p.(=) g.90770371T>G Copied from the Exome Variant Server FAS_000042 8/13006 0/8600 8/4406 - - - - - - -
?/? c.505+16C>T r.(=) p.(=) g.90770373C>T Copied from the Exome Variant Server FAS_000043 106/13006 95/8600 11/4406 - - - - - - -
?/? c.505+21A>G r.(=) p.(=) g.90770378A>G Copied from the Exome Variant Server FAS_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.505+36C>T r.(=) p.(=) g.90770393C>T Copied from the Exome Variant Server FAS_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.506-71C>G r.(=) p.(=) g.90770439C>G Copied from the Exome Variant Server FAS_000046 1691/4566 1243/3182 448/1384 - - - - - - -
?/? c.506-43A>C r.(=) p.(=) g.90770467A>C Copied from the Exome Variant Server FAS_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.506-29T>G r.(=) p.(=) g.90770481T>G Copied from the Exome Variant Server FAS_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.506-5T>C r.spl? p.? g.90770505T>C Copied from the Exome Variant Server FAS_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.533G>A r.(?) p.(Cys178Tyr) g.90770537G>A Copied from the Exome Variant Server FAS_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.550A>G r.(?) p.(Ile184Val) g.90770554A>G Copied from the Exome Variant Server FAS_000051 44/13006 2/8600 42/4406 - - - - - - -
?/? c.568+7T>A r.(=) p.(=) g.90770579T>A Copied from the Exome Variant Server FAS_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.569-71G>A r.(=) p.(=) g.90771685G>A Copied from the Exome Variant Server FAS_000053 1/4566 1/3182 0/1384 - - - - - - -
?/? c.575G>A r.(?) p.(Arg192Lys) g.90771762G>A Copied from the Exome Variant Server FAS_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.578A>G r.(?) p.(Lys193Arg) g.90771765A>G Copied from the Exome Variant Server FAS_000055 2/13006 2/8600 0/4406 - - - - - - -
?/? c.580G>A r.(?) p.(Glu194Lys) g.90771767G>A Copied from the Exome Variant Server FAS_000056 32/13006 29/8600 3/4406 - - - - - - -
?/? c.613G>A r.(?) p.(Glu205Lys) g.90771800G>A Copied from the Exome Variant Server FAS_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.642T>C r.(=) p.(=) g.90771829T>C Copied from the Exome Variant Server FAS_000058 9042/13006 6022/8600 3020/4406 - - - - - - -
?/? c.651+43T>G r.(=) p.(=) g.90771881T>G Copied from the Exome Variant Server FAS_000059 7/13004 7/8598 0/4406 - - - - - - -
?/? c.667A>C r.(?) p.(Asn223His) g.90773115A>C Copied from the Exome Variant Server FAS_000060 4/12970 4/8568 0/4402 - - - - - - -
?/? c.676+25A>G r.(=) p.(=) g.90773149A>G Copied from the Exome Variant Server FAS_000061 1/12956 1/8558 0/4398 - - - - - - -
?/? c.676+75G>A r.(=) p.(=) g.90773199G>A Copied from the Exome Variant Server FAS_000063 151/4526 1/3142 150/1384 - - - - - - -
?/? c.722C>A r.(?) p.(Thr241Lys) g.90773921C>A Copied from the Exome Variant Server FAS_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.723A>C r.(=) p.(=) g.90773922A>C Copied from the Exome Variant Server FAS_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.739G>C r.(?) p.(Gly247Arg) g.90773938G>C Copied from the Exome Variant Server FAS_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.867A>C r.(?) p.(Glu289Asp) g.90774066A>C Copied from the Exome Variant Server FAS_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.870G>A r.(=) p.(=) g.90774069G>A Copied from the Exome Variant Server FAS_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.914C>T r.(?) p.(Thr305Ile) g.90774113C>T Copied from the Exome Variant Server FAS_000068 2/13004 0/8598 2/4406 - - - - - - -
?/? c.956C>T r.(?) p.(Thr319Ile) g.90774155C>T Copied from the Exome Variant Server FAS_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.958A>G r.(?) p.(Ser320Gly) g.90774157A>G Copied from the Exome Variant Server FAS_000070 7/13006 1/8600 6/4406 - - - - - - -
?/? c.961G>A r.(?) p.(Asp321Asn) g.90774160G>A Copied from the Exome Variant Server FAS_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*43G>A r.(=) p.(=) g.90774250G>A Copied from the Exome Variant Server FAS_000072 7/12182 2/8276 5/3906 - - - - - - -
Legend