All transcript variants in gene FARS2

Information The variants shown are described using the NM_006567.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-21-24G>A r.(=) p.(=) g.5368759G>A Copied from the Exome Variant Server FARS2_000001 1/13006 0/8600 1/4406
?/? c.19A>G r.(?) p.(Arg7Gly) g.5368822A>G Copied from the Exome Variant Server FARS2_000002 1/13006 0/8600 1/4406
?/? c.101C>T r.(?) p.(Ser34Leu) g.5368904C>T Copied from the Exome Variant Server FARS2_000003 6/13006 1/8600 5/4406
?/? c.102G>A r.(=) p.(=) g.5368905G>A Copied from the Exome Variant Server FARS2_000004 128/13006 3/8600 125/4406
?/? c.170C>G r.(?) p.(Ser57Cys) g.5368973C>G Copied from the Exome Variant Server FARS2_000005 95/13006 1/8600 94/4406
?/? c.183C>T r.(=) p.(=) g.5368986C>T Copied from the Exome Variant Server FARS2_000006 60/13006 11/8600 49/4406
?/? c.202C>T r.(?) p.(Arg68Trp) g.5369005C>T Copied from the Exome Variant Server FARS2_000007 1/13006 0/8600 1/4406
?/? c.224G>T r.(?) p.(Gly75Val) g.5369027G>T Copied from the Exome Variant Server FARS2_000008 1/13006 1/8600 0/4406
?/? c.226A>G r.(?) p.(Arg76Gly) g.5369029A>G Copied from the Exome Variant Server FARS2_000009 1/13006 0/8600 1/4406
?/? c.267C>G r.(?) p.(Ile89Met) g.5369070C>G Copied from the Exome Variant Server FARS2_000010 6/13006 0/8600 6/4406
?/? c.268A>G r.(?) p.(Lys90Glu) g.5369071A>G Copied from the Exome Variant Server FARS2_000011 1/13006 0/8600 1/4406
?/? c.300G>A r.(=) p.(=) g.5369103G>A Copied from the Exome Variant Server FARS2_000012 1/13006 0/8600 1/4406
?/? c.323C>T r.(?) p.(Pro108Leu) g.5369126C>T Copied from the Exome Variant Server FARS2_000013 3/13006 3/8600 0/4406
?/? c.324G>A r.(=) p.(=) g.5369127G>A Copied from the Exome Variant Server FARS2_000014 2/13006 1/8600 1/4406
?/? c.332C>T r.(?) p.(Ser111Leu) g.5369135C>T Copied from the Exome Variant Server FARS2_000015 1/13006 0/8600 1/4406
?/? c.339C>T r.(=) p.(=) g.5369142C>T Copied from the Exome Variant Server FARS2_000016 362/13006 60/8600 302/4406
?/? c.407C>A r.(?) p.(Pro136His) g.5369210C>A Copied from the Exome Variant Server FARS2_000017 1/13006 1/8600 0/4406
?/? c.424G>A r.(?) p.(Asp142Asn) g.5369227G>A Copied from the Exome Variant Server FARS2_000018 1/13006 1/8600 0/4406
?/? c.462G>T r.(=) p.(=) g.5369265G>T Copied from the Exome Variant Server FARS2_000019 7/13006 7/8600 0/4406
?/? c.467C>T r.(?) p.(Thr156Met) g.5369270C>T Copied from the Exome Variant Server FARS2_000020 1/13006 1/8600 0/4406
?/? c.468G>A r.(=) p.(=) g.5369271G>A Copied from the Exome Variant Server FARS2_000021 50/13006 1/8600 49/4406
?/? c.478C>T r.(?) p.(Gln160*) g.5369281C>T Copied from the Exome Variant Server FARS2_000022 1/13006 1/8600 0/4406
?/? c.498G>A r.(=) p.(=) g.5369301G>A Copied from the Exome Variant Server FARS2_000023 2/13006 1/8600 1/4406
?/? c.506A>T r.(?) p.(Asp169Val) g.5369309A>T Copied from the Exome Variant Server FARS2_000024 21/13006 0/8600 21/4406
?/? c.508G>A r.(?) p.(Ala170Thr) g.5369311G>A Copied from the Exome Variant Server FARS2_000025 1/13006 0/8600 1/4406
?/? c.520G>T r.(?) p.(Val174Leu) g.5369323G>T Copied from the Exome Variant Server FARS2_000026 1/13006 0/8600 1/4406
?/? c.586G>T r.(?) p.(Ala196Ser) g.5369389G>T Copied from the Exome Variant Server FARS2_000027 1/13006 1/8600 0/4406
?/? c.588C>T r.(=) p.(=) g.5369391C>T Copied from the Exome Variant Server FARS2_000028 2/13006 2/8600 0/4406
?/? c.589G>A r.(?) p.(Val197Met) g.5369392G>A Copied from the Exome Variant Server FARS2_000029 1/13006 1/8600 0/4406
?/? c.606G>A r.(=) p.(=) g.5369409G>A Copied from the Exome Variant Server FARS2_000030 18/13006 16/8600 2/4406
?/? c.613-9G>C r.(=) p.(=) g.5404766G>C Copied from the Exome Variant Server FARS2_000031 1/13006 0/8600 1/4406
?/? c.667C>T r.(?) p.(Arg223Cys) g.5404829C>T Copied from the Exome Variant Server FARS2_000032 1/13006 1/8600 0/4406
?/? c.692A>G r.(?) p.(His231Arg) g.5404854A>G Copied from the Exome Variant Server FARS2_000033 1/13006 1/8600 0/4406
?/? c.706G>A r.(?) p.(Val236Met) g.5404868G>A Copied from the Exome Variant Server FARS2_000034 1/13006 1/8600 0/4406
?/? c.737C>T r.(?) p.(Thr246Met) g.5404899C>T Copied from the Exome Variant Server FARS2_000035 62/13006 52/8600 10/4406
?/? c.752T>C r.(?) p.(Met251Thr) g.5404914T>C Copied from the Exome Variant Server FARS2_000036 1/13006 1/8600 0/4406
?/? c.754G>A r.(?) p.(Ala252Thr) g.5404916G>A Copied from the Exome Variant Server FARS2_000037 1/13006 1/8600 0/4406
?/? c.772+24C>T r.(=) p.(=) g.5404958C>T Copied from the Exome Variant Server FARS2_000038 1008/13006 526/8600 482/4406
?/? c.772+25G>A r.(=) p.(=) g.5404959G>A Copied from the Exome Variant Server FARS2_000039 62/13006 0/8600 62/4406
?/? c.772+34T>A r.(=) p.(=) g.5404968T>A Copied from the Exome Variant Server FARS2_000040 8/13006 0/8600 8/4406
?/? c.773-39A>G r.(=) p.(=) g.5431235A>G Copied from the Exome Variant Server FARS2_000041 1/13006 1/8600 0/4406
?/? c.790G>A r.(?) p.(Val264Ile) g.5431291G>A Copied from the Exome Variant Server FARS2_000042 1/13006 0/8600 1/4406
?/? c.839A>G r.(?) p.(Asn280Ser) g.5431340A>G Copied from the Exome Variant Server FARS2_000043 1979/13006 1654/8600 325/4406
?/? c.873C>T r.(=) p.(=) g.5431374C>T Copied from the Exome Variant Server FARS2_000044 2/13006 0/8600 2/4406
?/? c.904G>T r.(?) p.(Ala302Ser) g.5431405G>T Copied from the Exome Variant Server FARS2_000045 1/13006 1/8600 0/4406
?/? c.904+30C>T r.(=) p.(=) g.5431435C>T Copied from the Exome Variant Server FARS2_000046 3/13006 0/8600 3/4406
?/? c.904+32T>C r.(=) p.(=) g.5431437T>C Copied from the Exome Variant Server FARS2_000047 1/13006 0/8600 1/4406
?/? c.904+478A>G r.(=) p.(=) g.5431883A>G Copied from the Exome Variant Server FARS2_000049 61/5734 58/3982 3/1752
?/? c.904+501C>T r.(=) p.(=) g.5431906C>T Copied from the Exome Variant Server FARS2_000050 1/5734 1/3982 0/1752
?/? c.904+555A>G r.(=) p.(=) g.5431960A>G Copied from the Exome Variant Server FARS2_000052 2252/5734 1756/3982 496/1752
?/? c.905-48C>G r.(=) p.(=) g.5545365C>G Copied from the Exome Variant Server FARS2_000048 1/13006 0/8600 1/4406
?/? c.905-45A>G r.(=) p.(=) g.5545368A>G Copied from the Exome Variant Server FARS2_000051 43/13006 0/8600 43/4406
?/? c.905-40G>A r.(=) p.(=) g.5545373G>A Copied from the Exome Variant Server FARS2_000077 43/13006 0/8600 43/4406
?/? c.919C>T r.(?) p.(Arg307*) g.5545427C>T Copied from the Exome Variant Server FARS2_000053 1/13006 0/8600 1/4406
?/? c.971A>G r.(?) p.(Tyr324Cys) g.5545479A>G Copied from the Exome Variant Server FARS2_000054 13/13006 0/8600 13/4406
?/? c.972C>T r.(=) p.(=) g.5545480C>T Copied from the Exome Variant Server FARS2_000055 1/13006 1/8600 0/4406
?/? c.993C>G r.(=) p.(=) g.5545501C>G Copied from the Exome Variant Server FARS2_000056 1/13006 1/8600 0/4406
?/? c.1065+28_1065+30del r.(=) p.(=) g.5545601_5545603del Copied from the Exome Variant Server FARS2_000057 1/12518 1/8254 0/4264
?/? c.1069C>T r.(?) p.(Leu357Phe) g.5613405C>T Copied from the Exome Variant Server FARS2_000058 1/13006 1/8600 0/4406
?/? c.1094A>G r.(?) p.(Asn365Ser) g.5613430A>G Copied from the Exome Variant Server FARS2_000059 1/13006 1/8600 0/4406
?/? c.1128C>T r.(=) p.(=) g.5613464C>T Copied from the Exome Variant Server FARS2_000060 6/13006 0/8600 6/4406
?/? c.1129G>A r.(?) p.(Ala377Thr) g.5613465G>A Copied from the Exome Variant Server FARS2_000061 1/13006 0/8600 1/4406
?/? c.1168_1173del r.(?) p.(Gly390_Asp391del) g.5613504_5613509del Copied from the Exome Variant Server FARS2_000062 1/12518 0/8254 1/4264
?/? c.1209A>G r.(=) p.(=) g.5613545A>G Copied from the Exome Variant Server FARS2_000063 1/13006 1/8600 0/4406
?/? c.1210C>T r.(?) p.(His404Tyr) g.5613546C>T Copied from the Exome Variant Server FARS2_000064 1/13006 1/8600 0/4406
?/? c.1217+30T>C r.(=) p.(=) g.5613583T>C Copied from the Exome Variant Server FARS2_000065 1/13006 0/8600 1/4406
?/? c.1218-23C>A r.(=) p.(=) g.5771501C>A Copied from the Exome Variant Server FARS2_000066 1/13006 0/8600 1/4406
?/? c.1218-18T>A r.(=) p.(=) g.5771506T>A Copied from the Exome Variant Server FARS2_000067 1/13006 1/8600 0/4406
?/? c.1220C>T r.(?) p.(Thr407Met) g.5771526C>T Copied from the Exome Variant Server FARS2_000068 1/13006 0/8600 1/4406
?/? c.1230C>T r.(=) p.(=) g.5771536C>T Copied from the Exome Variant Server FARS2_000069 1/13006 0/8600 1/4406
?/? c.1244G>A r.(?) p.(Arg415His) g.5771550G>A Copied from the Exome Variant Server FARS2_000070 1/13006 0/8600 1/4406
?/? c.1267C>A r.(=) p.(=) g.5771573C>A Copied from the Exome Variant Server FARS2_000071 1/13006 0/8600 1/4406
?/? c.1268G>A r.(?) p.(Arg423Gln) g.5771574G>A Copied from the Exome Variant Server FARS2_000072 5/13006 3/8600 2/4406
?/? c.1273C>T r.(=) p.(=) g.5771579C>T Copied from the Exome Variant Server FARS2_000073 6/13006 0/8600 6/4406
?/? c.1311G>A r.(=) p.(=) g.5771617G>A Copied from the Exome Variant Server FARS2_000074 1/13006 0/8600 1/4406
?/? c.*27C>T r.(=) p.(=) g.5771689C>T Copied from the Exome Variant Server FARS2_000075 1/13006 1/8600 0/4406
?/? c.*31T>C r.(=) p.(=) g.5771693T>C Copied from the Exome Variant Server FARS2_000076 1/13006 0/8600 1/4406
Legend