All transcript variants in gene TMC8

Information The variants shown are described using the NM_152468.4 transcript reference sequence.

192 entries on 2 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.69G>A r.(=) p.(=) g.76127738G>A Copied from the Exome Variant Server TMC6_000233 66/12504 64/8304 2/4200
?/? c.77T>C r.(?) p.(Met26Thr) g.76127746T>C Copied from the Exome Variant Server TMC6_000234 233/12560 218/8340 15/4220
?/? c.118C>G r.(?) p.(Pro40Ala) g.76127787C>G Copied from the Exome Variant Server TMC6_000235 2/12764 2/8466 0/4298
?/? c.141C>G r.(=) p.(=) g.76127810C>G Copied from the Exome Variant Server TMC6_000236 1/12804 1/8488 0/4316
?/? c.144C>T r.(=) p.(=) g.76127813C>T Copied from the Exome Variant Server TMC6_000237 1/12784 0/8476 1/4308
?/? c.149+4G>T r.spl? p.? g.76127822G>T Copied from the Exome Variant Server TMC6_000238 2/12704 1/8420 1/4284
?/? c.149+18G>T r.(=) p.(=) g.76127836G>T Copied from the Exome Variant Server TMC6_000239 1/12242 1/8122 0/4120
?/? c.149+32del r.(=) p.(=) g.76127850del Copied from the Exome Variant Server TMC6_000241 153/11096 116/7462 37/3634
?/? c.149+32dup r.(=) p.(=) g.76127850dup Copied from the Exome Variant Server TMC6_000240 1010/11096 547/7462 463/3634
?/? c.149+32_149+33insGG r.(=) p.(=) g.76127850_76127851insGG Copied from the Exome Variant Server TMC6_000242 156/11096 9/7462 147/3634
?/? c.149+46G>C r.(=) p.(=) g.76127864G>C Copied from the Exome Variant Server TMC6_000243 9/12094 8/8090 1/4004
?/? c.299-42C>G r.(=) p.(=) g.76128398C>G Copied from the Exome Variant Server TMC6_000244 8/12966 0/8586 8/4380
?/? c.299-28C>T r.(=) p.(=) g.76128412C>T Copied from the Exome Variant Server TMC6_000245 1/12992 1/8596 0/4396
?/? c.299-9C>T r.(=) p.(=) g.76128431C>T Copied from the Exome Variant Server TMC6_000246 1/13002 0/8600 1/4402
?/? c.360C>T r.(=) p.(=) g.76128501C>T Copied from the Exome Variant Server TMC8_000001 1/12996 1/8600 0/4396
?/? c.390C>G r.(?) p.(Phe130Leu) g.76128531C>G Copied from the Exome Variant Server TMC8_000002 9/13000 0/8598 9/4402
?/? c.391G>C r.(?) p.(Val131Leu) g.76128532G>C Copied from the Exome Variant Server TMC8_000003 2/13000 1/8598 1/4402
?/? c.393G>A r.(=) p.(=) g.76128534G>A Copied from the Exome Variant Server TMC8_000004 2/13000 0/8598 2/4402
?/? c.406G>A r.(?) p.(Val136Ile) g.76128547G>A Copied from the Exome Variant Server TMC8_000005 1/13002 0/8600 1/4402
?/? c.409T>C r.(?) p.(Trp137Arg) g.76128550T>C Copied from the Exome Variant Server TMC8_000006 2/13002 2/8600 0/4402
?/? c.444C>T r.(=) p.(=) g.76128585C>T Copied from the Exome Variant Server TMC8_000007 1/12998 0/8598 1/4400
?/? c.448+3G>A r.spl? p.? g.76128592G>A Copied from the Exome Variant Server TMC8_000008 2/12996 0/8598 2/4398
?/? c.448+29C>T r.(=) p.(=) g.76128618C>T Copied from the Exome Variant Server TMC8_000009 1/12992 1/8594 0/4398
?/? c.448+33G>A r.(=) p.(=) g.76128622G>A Copied from the Exome Variant Server TMC8_000010 1/12986 1/8592 0/4394
?/? c.448+51del r.(=) p.(=) g.76128640del Copied from the Exome Variant Server TMC8_000012 35/12362 24/8162 11/4200
?/? c.448+51dup r.(=) p.(=) g.76128640dup Copied from the Exome Variant Server TMC8_000011 49/12362 21/8162 28/4200
?/? c.449-25T>G r.(=) p.(=) g.76128844T>G Copied from the Exome Variant Server TMC8_000013 2/13006 2/8600 0/4406
?/? c.449-1G>T r.spl? p.? g.76128868G>T Copied from the Exome Variant Server TMC8_000014 1/13006 1/8600 0/4406
?/? c.461C>A r.(?) p.(Pro154His) g.76128881C>A Copied from the Exome Variant Server TMC8_000015 2/13006 0/8600 2/4406
?/? c.479C>T r.(?) p.(Pro160Leu) g.76128899C>T Copied from the Exome Variant Server TMC8_000016 2/13006 0/8600 2/4406
?/? c.480G>A r.(=) p.(=) g.76128900G>A Copied from the Exome Variant Server TMC8_000017 2/13006 2/8600 0/4406
?/? c.510T>C r.(=) p.(=) g.76128930T>C Copied from the Exome Variant Server TMC8_000018 1/13006 1/8600 0/4406
?/? c.531+20G>C r.(=) p.(=) g.76128971G>C Copied from the Exome Variant Server TMC8_000019 1/13006 0/8600 1/4406
?/? c.531+23A>G r.(=) p.(=) g.76128974A>G Copied from the Exome Variant Server TMC8_000020 1/13006 1/8600 0/4406
?/? c.531+30A>G r.(=) p.(=) g.76128981A>G Copied from the Exome Variant Server TMC8_000021 1/13006 1/8600 0/4406
?/? c.531+32A>G r.(=) p.(=) g.76128983A>G Copied from the Exome Variant Server TMC8_000022 2/13006 2/8600 0/4406
?/? c.532-43C>G r.(=) p.(=) g.76129444C>G Copied from the Exome Variant Server TMC8_000023 100/13006 1/8600 99/4406
?/? c.532-30C>G r.(=) p.(=) g.76129457C>G Copied from the Exome Variant Server TMC8_000024 3/13006 0/8600 3/4406
?/? c.532-29G>A r.(=) p.(=) g.76129458G>A Copied from the Exome Variant Server TMC8_000025 12/13006 1/8600 11/4406
?/? c.532-18C>G r.(=) p.(=) g.76129469C>G Copied from the Exome Variant Server TMC8_000026 3/13006 0/8600 3/4406
?/? c.532-12C>T r.(=) p.(=) g.76129475C>T Copied from the Exome Variant Server TMC8_000027 1/13006 1/8600 0/4406
?/? c.558C>T r.(=) p.(=) g.76129513C>T Copied from the Exome Variant Server TMC8_000028 1/13006 1/8600 0/4406
?/? c.564G>C r.(=) p.(=) g.76129519G>C Copied from the Exome Variant Server TMC8_000029 2/13006 2/8600 0/4406
?/? c.579G>A r.(=) p.(=) g.76129534G>A Copied from the Exome Variant Server TMC8_000030 1/13006 0/8600 1/4406
?/? c.591C>T r.(=) p.(=) g.76129546C>T Copied from the Exome Variant Server TMC8_000031 1/13006 0/8600 1/4406
?/? c.592G>A r.(?) p.(Val198Met) g.76129547G>A Copied from the Exome Variant Server TMC8_000032 1/13006 1/8600 0/4406
?/? c.603C>T r.(=) p.(=) g.76129558C>T Copied from the Exome Variant Server TMC8_000033 1/13006 0/8600 1/4406
?/? c.605G>A r.(?) p.(Arg202His) g.76129560G>A Copied from the Exome Variant Server TMC8_000034 4/13006 3/8600 1/4406
?/? c.652T>C r.(?) p.(Cys218Arg) g.76129607T>C Copied from the Exome Variant Server TMC8_000035 1/13006 1/8600 0/4406
?/? c.660T>C r.(=) p.(=) g.76129615T>C Copied from the Exome Variant Server TMC8_000036 15/13006 15/8600 0/4406
?/? c.664C>T r.(?) p.(Arg222Trp) g.76129619C>T Copied from the Exome Variant Server TMC8_000037 18/13006 16/8600 2/4406
?/? c.667C>T r.(?) p.(Arg223Trp) g.76129622C>T Copied from the Exome Variant Server TMC8_000038 2/13006 2/8600 0/4406
?/? c.668+13T>C r.(=) p.(=) g.76129636T>C Copied from the Exome Variant Server TMC8_000039 3501/13006 1718/8600 1783/4406
?/? c.668+25C>T r.(=) p.(=) g.76129648C>T Copied from the Exome Variant Server TMC8_000040 5/13006 3/8600 2/4406
?/? c.668+38G>A r.(=) p.(=) g.76129661G>A Copied from the Exome Variant Server TMC8_000041 1/13006 1/8600 0/4406
?/? c.669-49A>G r.(=) p.(=) g.76129885A>G Copied from the Exome Variant Server TMC8_000042 3/12960 3/8574 0/4386
?/? c.669-41G>A r.(=) p.(=) g.76129893G>A Copied from the Exome Variant Server TMC8_000043 3/12980 3/8580 0/4400
?/? c.669-35C>A r.(=) p.(=) g.76129899C>A Copied from the Exome Variant Server TMC8_000044 1/12986 0/8584 1/4402
?/? c.669-31C>T r.(=) p.(=) g.76129903C>T Copied from the Exome Variant Server TMC8_000045 578/12992 457/8588 121/4404
?/? c.669-24A>C r.(=) p.(=) g.76129910A>C Copied from the Exome Variant Server TMC8_000046 994/12998 492/8594 502/4404
?/? c.669-5C>T r.spl? p.? g.76129929C>T Copied from the Exome Variant Server TMC8_000047 1/12998 1/8596 0/4402
?/? c.669-4G>C r.spl? p.? g.76129930G>C Copied from the Exome Variant Server TMC8_000048 268/12998 249/8596 19/4402
?/? c.693G>C r.(?) p.(Lys231Asn) g.76129958G>C Copied from the Exome Variant Server TMC8_000049 2/13004 2/8598 0/4406
?/? c.695_696del r.(?) p.(Leu233Alafs*33) g.76129960_76129961del Copied from the Exome Variant Server TMC8_000050 66/12516 49/8252 17/4264
?/? c.720G>A r.(=) p.(=) g.76129985G>A Copied from the Exome Variant Server TMC8_000051 1/13006 1/8600 0/4406
?/? c.730G>A r.(?) p.(Ala244Thr) g.76129995G>A Copied from the Exome Variant Server TMC8_000052 1/13006 0/8600 1/4406
?/? c.736G>C r.(?) p.(Val246Leu) g.76130001G>C Copied from the Exome Variant Server TMC8_000053 1/13004 1/8600 0/4404
?/? c.762C>T r.(=) p.(=) g.76130027C>T Copied from the Exome Variant Server TMC8_000054 1/13006 0/8600 1/4406
?/? c.764G>A r.(?) p.(Arg255Gln) g.76130029G>A Copied from the Exome Variant Server TMC8_000055 1/13006 1/8600 0/4406
?/? c.816+10C>T r.(=) p.(=) g.76130091C>T Copied from the Exome Variant Server TMC8_000056 2/13006 1/8600 1/4406
?/? c.816+49G>A r.(=) p.(=) g.76130130G>A Copied from the Exome Variant Server TMC8_000057 1/13006 1/8600 0/4406
?/? c.817-36G>A r.(=) p.(=) g.76130439G>A Copied from the Exome Variant Server TMC8_000058 78/12924 4/8534 74/4390
?/? c.817-31C>T r.(=) p.(=) g.76130444C>T Copied from the Exome Variant Server TMC8_000059 1/12942 0/8560 1/4382
?/? c.817-6G>A r.(=) p.(=) g.76130469G>A Copied from the Exome Variant Server TMC8_000060 1/12974 0/8576 1/4398
?/? c.836G>T r.(?) p.(Arg279Leu) g.76130494G>T Copied from the Exome Variant Server TMC8_000061 1/13002 1/8596 0/4406
?/? c.838C>T r.(?) p.(Arg280Cys) g.76130496C>T Copied from the Exome Variant Server TMC8_000062 1/13002 0/8596 1/4406
?/? c.839G>A r.(?) p.(Arg280His) g.76130497G>A Copied from the Exome Variant Server TMC8_000063 1/13002 0/8596 1/4406
?/? c.865C>T r.(?) p.(Arg289Trp) g.76130523C>T Copied from the Exome Variant Server TMC8_000064 1/13006 1/8600 0/4406
?/? c.869C>T r.(?) p.(Ala290Val) g.76130527C>T Copied from the Exome Variant Server TMC8_000065 1/13006 0/8600 1/4406
?/? c.875C>G r.(?) p.(Thr292Arg) g.76130533C>G Copied from the Exome Variant Server TMC8_000066 1/13006 1/8600 0/4406
?/? c.884G>A r.(?) p.(Arg295His) g.76130542G>A Copied from the Exome Variant Server TMC8_000067 2/13006 2/8600 0/4406
?/? c.908A>G r.(?) p.(Asn303Ser) g.76130566A>G Copied from the Exome Variant Server TMC8_000068 1/13006 1/8600 0/4406
?/? c.913C>T r.(?) p.(Leu305Phe) g.76130571C>T Copied from the Exome Variant Server TMC8_000069 17/13006 15/8600 2/4406
?/? c.917A>T r.(?) p.(Asn306Ile) g.76130575A>T Copied from the Exome Variant Server TMC8_000070 7230/13006 4209/8600 3021/4406
?/? c.918C>T r.(=) p.(=) g.76130576C>T Copied from the Exome Variant Server TMC8_000071 15/13006 13/8600 2/4406
?/? c.924C>T r.(=) p.(=) g.76130582C>T Copied from the Exome Variant Server TMC8_000072 1/13006 0/8600 1/4406
?/? c.938C>T r.(?) p.(Ala313Val) g.76130596C>T Copied from the Exome Variant Server TMC8_000073 1/13006 0/8600 1/4406
?/? c.987+1G>A r.spl? p.? g.76130646G>A Copied from the Exome Variant Server TMC8_000074 1/13004 1/8600 0/4404
?/? c.987+6A>C r.(=) p.(=) g.76130651A>C Copied from the Exome Variant Server TMC8_000075 1/13004 1/8600 0/4404
?/? c.987+29T>C r.(=) p.(=) g.76130674T>C Copied from the Exome Variant Server TMC8_000076 388/13000 319/8598 69/4402
?/? c.987+39T>C r.(=) p.(=) g.76130684T>C Copied from the Exome Variant Server TMC8_000077 2/12998 2/8600 0/4398
?/? c.987+41C>T r.(=) p.(=) g.76130686C>T Copied from the Exome Variant Server TMC8_000078 1/12992 1/8594 0/4398
?/? c.988-43_988-42insC r.(=) p.(=) g.76130908_76130909insC Copied from the Exome Variant Server TMC8_000079 10/12518 4/8254 6/4264
?/? c.988-32C>T r.(=) p.(=) g.76130919C>T Copied from the Exome Variant Server TMC8_000080 24/13006 1/8600 23/4406
?/? c.988-4G>T r.spl? p.? g.76130947G>T Copied from the Exome Variant Server TMC8_000081 1076/13006 699/8600 377/4406
?/? c.1024G>T r.(?) p.(Gly342Trp) g.76130987G>T Copied from the Exome Variant Server TMC8_000082 288/13006 249/8600 39/4406
?/? c.1032C>T r.(=) p.(=) g.76130995C>T Copied from the Exome Variant Server TMC8_000083 1/13006 0/8600 1/4406
?/? c.1033G>A r.(?) p.(Ala345Thr) g.76130996G>A Copied from the Exome Variant Server TMC8_000084 1/13006 1/8600 0/4406
?/? c.1084G>A r.(?) p.(Glu362Lys) g.76131047G>A Copied from the Exome Variant Server TMC8_000085 1/13006 1/8600 0/4406
?/? c.1103C>T r.(?) p.(Thr368Met) g.76131066C>T Copied from the Exome Variant Server TMC8_000086 2/13006 0/8600 2/4406
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