All transcript variants in gene TCOF1

Information The variants shown are described using the NM_000356.3 transcript reference sequence.

321 entries on 4 pages. 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     
?/? c.108+46A>G r.(=) p.(=) g.149737463A>G Copied from the Exome Variant Server TCOF1_000001 1/8846 1/5726 0/3120
?/? c.109-28T>C r.(=) p.(=) g.149740691T>C Copied from the Exome Variant Server TCOF1_000002 23/13006 0/8600 23/4406
?/? c.109-16C>T r.(=) p.(=) g.149740703C>T Copied from the Exome Variant Server TCOF1_000003 1/13006 0/8600 1/4406
?/? c.109-13T>C r.(=) p.(=) g.149740706T>C Copied from the Exome Variant Server TCOF1_000004 41/13006 1/8600 40/4406
?/? c.122C>T r.(?) p.(Ala41Val) g.149740732C>T Copied from the Exome Variant Server TCOF1_000005 30/13006 27/8600 3/4406
?/? c.162A>G r.(=) p.(=) g.149740772A>G Copied from the Exome Variant Server TCOF1_000006 139/13006 1/8600 138/4406
?/? c.164+17A>G r.(=) p.(=) g.149740791A>G Copied from the Exome Variant Server TCOF1_000007 1/13006 1/8600 0/4406
?/? c.164+34C>T r.(=) p.(=) g.149740808C>T Copied from the Exome Variant Server TCOF1_000008 1/13006 1/8600 0/4406
?/? c.164+65G>A r.(=) p.(=) g.149740839G>A Copied from the Exome Variant Server TCOF1_000009 9/4566 0/3182 9/1384
?/? c.165-25A>G r.(=) p.(=) g.149743651A>G Copied from the Exome Variant Server TCOF1_000010 1/13006 0/8600 1/4406
?/? c.187C>T r.(?) p.(Arg63Trp) g.149743698C>T Copied from the Exome Variant Server TCOF1_000011 1/13006 1/8600 0/4406
?/? c.188G>A r.(?) p.(Arg63Gln) g.149743699G>A Copied from the Exome Variant Server TCOF1_000012 4/13006 4/8600 0/4406
?/? c.230G>A r.(?) p.(Arg77His) g.149743741G>A Copied from the Exome Variant Server TCOF1_000013 2/13006 2/8600 0/4406
?/? c.304+43T>C r.(=) p.(=) g.149743858T>C Copied from the Exome Variant Server TCOF1_000014 2/13006 0/8600 2/4406
?/? c.304+45G>A r.(=) p.(=) g.149743860G>A Copied from the Exome Variant Server TCOF1_000015 10/13006 0/8600 10/4406
?/? c.305-52A>G r.(=) p.(=) g.149747355A>G Copied from the Exome Variant Server TCOF1_000016 96/10300 91/7164 5/3136
?/? c.305-36C>A r.(=) p.(=) g.149747371C>A Copied from the Exome Variant Server TCOF1_000017 4/13006 0/8600 4/4406
?/? c.326A>G r.(?) p.(Asn109Ser) g.149747428A>G Copied from the Exome Variant Server TCOF1_000018 5/13006 5/8600 0/4406
?/? c.337C>A r.(?) p.(Leu113Met) g.149747439C>A Copied from the Exome Variant Server TCOF1_000019 1/13006 1/8600 0/4406
?/? c.378+16T>C r.(=) p.(=) g.149747496T>C Copied from the Exome Variant Server TCOF1_000020 18/13006 0/8600 18/4406
?/? c.378+21A>G r.(=) p.(=) g.149747501A>G Copied from the Exome Variant Server TCOF1_000021 1/13006 0/8600 1/4406
?/? c.378+32A>G r.(=) p.(=) g.149747512A>G Copied from the Exome Variant Server TCOF1_000022 1/13006 0/8600 1/4406
?/? c.378+39T>G r.(=) p.(=) g.149747519T>G Copied from the Exome Variant Server TCOF1_000023 42/13006 0/8600 42/4406
?/? c.378+50del r.(=) p.(=) g.149747530del Copied from the Exome Variant Server TCOF1_000024 1/12518 0/8254 1/4264
?/? c.379-51C>G r.(=) p.(=) g.149748228C>G Copied from the Exome Variant Server TCOF1_000025 4/13006 0/8600 4/4406
?/? c.379-39T>A r.(=) p.(=) g.149748240T>A Copied from the Exome Variant Server TCOF1_000026 1/13006 0/8600 1/4406
?/? c.449A>G r.(?) p.(Asn150Ser) g.149748349A>G Copied from the Exome Variant Server TCOF1_000027 1/13006 1/8600 0/4406
?/? c.484G>A r.(?) p.(Glu162Lys) g.149748384G>A Copied from the Exome Variant Server TCOF1_000028 4/13006 0/8600 4/4406
?/? c.503C>T r.(?) p.(Thr168Met) g.149748403C>T Copied from the Exome Variant Server TCOF1_000029 2/13006 0/8600 2/4406
?/? c.520_522del r.(?) p.(Glu176del) g.149748420_149748422del Copied from the Exome Variant Server TCOF1_000030 2/12518 2/8254 0/4264
?/? c.531C>T r.(=) p.(=) g.149748431C>T Copied from the Exome Variant Server TCOF1_000031 2/13006 2/8600 0/4406
?/? c.534C>T r.(=) p.(=) g.149748434C>T Copied from the Exome Variant Server TCOF1_000032 20/13006 0/8600 20/4406
?/? c.535G>A r.(?) p.(Val179Ile) g.149748435G>A Copied from the Exome Variant Server TCOF1_000033 1/13006 1/8600 0/4406
?/? c.542C>T r.(?) p.(Ala181Val) g.149748442C>T Copied from the Exome Variant Server TCOF1_000034 1/13006 1/8600 0/4406
?/? c.548G>A r.(?) p.(Gly183Glu) g.149748448G>A Copied from the Exome Variant Server TCOF1_000035 1/13006 0/8600 1/4406
?/? c.566-29C>A r.(=) p.(=) g.149749063C>A Copied from the Exome Variant Server TCOF1_000036 1/13006 1/8600 0/4406
?/? c.566-15G>A r.(=) p.(=) g.149749077G>A Copied from the Exome Variant Server TCOF1_000037 3/13006 1/8600 2/4406
?/? c.566-8A>C r.(=) p.(=) g.149749084A>C Copied from the Exome Variant Server TCOF1_000038 1/13006 1/8600 0/4406
?/? c.579G>A r.(=) p.(=) g.149749105G>A Copied from the Exome Variant Server TCOF1_000039 76/13006 0/8600 76/4406
?/? c.600C>T r.(=) p.(=) g.149749126C>T Copied from the Exome Variant Server TCOF1_000040 3/13006 3/8600 0/4406
?/? c.639+6T>G r.(=) p.(=) g.149749171T>G Copied from the Exome Variant Server TCOF1_000041 1/13006 1/8600 0/4406
?/? c.639+9C>T r.(=) p.(=) g.149749174C>T Copied from the Exome Variant Server TCOF1_000043 1/13006 1/8600 0/4406
?/? c.639+18C>G r.(=) p.(=) g.149749183C>G Copied from the Exome Variant Server TCOF1_000045 2/13006 1/8600 1/4406
?/? c.639+21G>A r.(=) p.(=) g.149749186G>A Copied from the Exome Variant Server TCOF1_000047 2/13006 1/8600 1/4406
?/? c.639+25T>A r.(=) p.(=) g.149749190T>A Copied from the Exome Variant Server TCOF1_000049 1/13006 0/8600 1/4406
?/? c.639+32C>T r.(=) p.(=) g.149749197C>T Copied from the Exome Variant Server TCOF1_000051 799/13004 720/8600 79/4404
?/? c.640-2206_640-2204del r.(=) p.(=) g.149751531_149751533del Copied from the Exome Variant Server TCOF1_000042 10/11348 8/7816 2/3532
?/? c.640-2157A>G r.(=) p.(=) g.149751580A>G Copied from the Exome Variant Server TCOF1_000044 1/11892 1/8184 0/3708
?/? c.640-2132T>C r.(=) p.(=) g.149751605T>C Copied from the Exome Variant Server TCOF1_000046 2/11938 2/8204 0/3734
?/? c.640-2120A>T r.(=) p.(=) g.149751617A>T Copied from the Exome Variant Server TCOF1_000048 2/11934 2/8198 0/3736
?/? c.640-2111T>C r.(=) p.(=) g.149751626T>C Copied from the Exome Variant Server TCOF1_000050 1/11986 0/8216 1/3770
?/? c.640-2107C>G r.(=) p.(=) g.149751630C>G Copied from the Exome Variant Server TCOF1_000052 1/11998 0/8224 1/3774
?/? c.640-2102A>G r.(=) p.(=) g.149751635A>G Copied from the Exome Variant Server TCOF1_000053 1/12014 0/8230 1/3784
?/? c.640-2094G>A r.(=) p.(=) g.149751643G>A Copied from the Exome Variant Server TCOF1_000054 1/12042 0/8228 1/3814
?/? c.640-2006G>T r.(=) p.(=) g.149751731G>T Copied from the Exome Variant Server TCOF1_000055 1/12576 1/8400 0/4176
?/? c.640-1991_640-1974del r.(=) p.(=) g.149751746_149751763del Copied from the Exome Variant Server TCOF1_000056 33/11998 30/8018 3/3980
?/? c.640-1968G>A r.(=) p.(=) g.149751769G>A Copied from the Exome Variant Server TCOF1_000057 1/12578 1/8380 0/4198
?/? c.640-1942G>A r.(=) p.(=) g.149751795G>A Copied from the Exome Variant Server TCOF1_000058 6/12514 0/8370 6/4144
?/? c.640-1900C>T r.(=) p.(=) g.149751837C>T Copied from the Exome Variant Server TCOF1_000059 1/12312 1/8282 0/4030
?/? c.640-1899G>A r.(=) p.(=) g.149751838G>A Copied from the Exome Variant Server TCOF1_000060 4/12336 0/8286 4/4050
?/? c.640-1898G>T r.(=) p.(=) g.149751839G>T Copied from the Exome Variant Server TCOF1_000061 25/12352 0/8290 25/4062
?/? c.640-49A>G r.(=) p.(=) g.149753688A>G Copied from the Exome Variant Server TCOF1_000062 5/12470 0/8240 5/4230
?/? c.640-40T>A r.(=) p.(=) g.149753697T>A Copied from the Exome Variant Server TCOF1_000063 7/12524 6/8276 1/4248
?/? c.640-33C>T r.(=) p.(=) g.149753704C>T Copied from the Exome Variant Server TCOF1_000064 2/12604 2/8348 0/4256
?/? c.680C>T r.(?) p.(Ser227Leu) g.149753777C>T Copied from the Exome Variant Server TCOF1_000065 3/12988 3/8586 0/4402
?/? c.699C>G r.(=) p.(=) g.149753796C>G Copied from the Exome Variant Server TCOF1_000066 2/12996 0/8594 2/4402
?/? c.719C>T r.(?) p.(Pro240Leu) g.149753816C>T Copied from the Exome Variant Server TCOF1_000067 1/12990 1/8590 0/4400
?/? c.730G>A r.(?) p.(Gly244Arg) g.149753827G>A Copied from the Exome Variant Server TCOF1_000068 4/12984 0/8584 4/4400
?/? c.743C>A r.(?) p.(Ala248Asp) g.149753840C>A Copied from the Exome Variant Server TCOF1_000069 1/12986 1/8592 0/4394
?/? c.768G>A r.(=) p.(=) g.149753865G>A Copied from the Exome Variant Server TCOF1_000070 17/12968 17/8584 0/4384
?/? c.797G>A r.(?) p.(Ser266Asn) g.149753894G>A Copied from the Exome Variant Server TCOF1_000071 14/12954 12/8572 2/4382
?/? c.803A>G r.(?) p.(Glu268Gly) g.149753900A>G Copied from the Exome Variant Server TCOF1_000072 12/12940 0/8558 12/4382
?/? c.807A>G r.(=) p.(=) g.149753904A>G Copied from the Exome Variant Server TCOF1_000073 1/12944 1/8558 0/4386
?/? c.840G>A r.(=) p.(=) g.149753937G>A Copied from the Exome Variant Server TCOF1_000074 1/12812 0/8486 1/4326
?/? c.852+39G>A r.(=) p.(=) g.149753988G>A Copied from the Exome Variant Server TCOF1_000075 653/12470 603/8260 50/4210
?/? c.853-37A>G r.(=) p.(=) g.149754143A>G Copied from the Exome Variant Server TCOF1_000076 3/12890 3/8522 0/4368
?/? c.853-36T>C r.(=) p.(=) g.149754144T>C Copied from the Exome Variant Server TCOF1_000077 10/12884 0/8518 10/4366
?/? c.877C>G r.(?) p.(Gln293Glu) g.149754204C>G Copied from the Exome Variant Server TCOF1_000078 3/12988 3/8586 0/4402
?/? c.889G>T r.(?) p.(Ala297Ser) g.149754216G>T Copied from the Exome Variant Server TCOF1_000079 9/12998 0/8594 9/4404
?/? c.897C>A r.(=) p.(=) g.149754224C>A Copied from the Exome Variant Server TCOF1_000080 1/13000 1/8596 0/4404
?/? c.899C>T r.(?) p.(Pro300Leu) g.149754226C>T Copied from the Exome Variant Server TCOF1_000081 1/13000 1/8596 0/4404
?/? c.902C>T r.(?) p.(Ala301Val) g.149754229C>T Copied from the Exome Variant Server TCOF1_000082 157/12998 0/8596 157/4402
?/? c.970G>A r.(?) p.(Ala324Thr) g.149754297G>A Copied from the Exome Variant Server TCOF1_000083 1/13006 1/8600 0/4406
?/? c.986G>A r.(?) p.(Arg329Gln) g.149754313G>A Copied from the Exome Variant Server TCOF1_000084 6/13006 0/8600 6/4406
?/? c.998C>T r.(?) p.(Ser333Leu) g.149754325C>T Copied from the Exome Variant Server TCOF1_000085 165/13006 3/8600 162/4406
?/? c.1020G>A r.(=) p.(=) g.149754347G>A Copied from the Exome Variant Server TCOF1_000086 1/13006 1/8600 0/4406
?/? c.1038G>A r.(=) p.(=) g.149754365G>A Copied from the Exome Variant Server TCOF1_000087 2/13002 0/8598 2/4404
?/? c.1042G>A r.(?) p.(Ala348Thr) g.149754369G>A Copied from the Exome Variant Server TCOF1_000088 1/13000 1/8598 0/4402
?/? c.1047+9G>A r.(=) p.(=) g.149754383G>A Copied from the Exome Variant Server TCOF1_000089 1/12982 1/8594 0/4388
?/? c.1047+14G>A r.(=) p.(=) g.149754388G>A Copied from the Exome Variant Server TCOF1_000091 18/12978 0/8594 18/4384
?/? c.1047+36G>T r.(=) p.(=) g.149754410G>T Copied from the Exome Variant Server TCOF1_000093 1/12990 1/8594 0/4396
?/? c.1048-43G>T r.(=) p.(=) g.149754474G>T Copied from the Exome Variant Server TCOF1_000095 1/13000 1/8596 0/4404
?/? c.1048-30_1048-29insCT r.(=) p.(=) g.149754487_149754488insCT Copied from the Exome Variant Server TCOF1_000097 1/12504 0/8248 1/4256
?/? c.1050G>A r.(=) p.(=) g.149754519G>A Copied from the Exome Variant Server TCOF1_000099 44/12994 38/8596 6/4398
?/? c.1067C>T r.(?) p.(Ala356Val) g.149754536C>T Copied from the Exome Variant Server TCOF1_000101 1/12996 1/8594 0/4402
?/? c.1069C>T r.(?) p.(Pro357Ser) g.149754538C>T Copied from the Exome Variant Server TCOF1_000103 18/12994 0/8594 18/4400
?/? c.1083C>T r.(=) p.(=) g.149754552C>T Copied from the Exome Variant Server TCOF1_000090 1/12988 0/8586 1/4402
?/? c.1119G>A r.(=) p.(=) g.149754588G>A Copied from the Exome Variant Server TCOF1_000092 1/12998 1/8598 0/4400
?/? c.1130C>T r.(?) p.(Ala377Val) g.149754599C>T Copied from the Exome Variant Server TCOF1_000094 4/13004 0/8598 4/4406
?/? c.1148G>T r.(?) p.(Gly383Val) g.149754617G>T Copied from the Exome Variant Server TCOF1_000096 1/13006 1/8600 0/4406
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