Full data view for gene TMC6

Information The variants shown are described using the NM_001127198.1 transcript reference sequence.

246 entries on 3 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-3813G>A r.(=) p.(=) g.76128431C>T Copied from the Exome Variant Server TMC6_000246 1/13002 0/8600 1/4402 - - - - - - -
?/? c.-3794G>A r.(=) p.(=) g.76128412C>T Copied from the Exome Variant Server TMC6_000245 1/12992 1/8596 0/4396 - - - - - - -
?/? c.-3780G>C r.(=) p.(=) g.76128398C>G Copied from the Exome Variant Server TMC6_000244 8/12966 0/8586 8/4380 - - - - - - -
?/? c.-3246C>G r.(=) p.(=) g.76127864G>C Copied from the Exome Variant Server TMC6_000243 9/12094 8/8090 1/4004 - - - - - - -
?/? c.-3233_-3232insCC r.(=) p.(=) g.76127850_76127851insGG Copied from the Exome Variant Server TMC6_000242 156/11096 9/7462 147/3634 - - - - - - -
?/? c.-3232del r.(=) p.(=) g.76127850del Copied from the Exome Variant Server TMC6_000241 153/11096 116/7462 37/3634 - - - - - - -
?/? c.-3232dup r.(=) p.(=) g.76127850dup Copied from the Exome Variant Server TMC6_000240 1010/11096 547/7462 463/3634 - - - - - - -
?/? c.-3218C>A r.(=) p.(=) g.76127836G>T Copied from the Exome Variant Server TMC6_000239 1/12242 1/8122 0/4120 - - - - - - -
?/? c.-3204C>A r.(=) p.(=) g.76127822G>T Copied from the Exome Variant Server TMC6_000238 2/12704 1/8420 1/4284 - - - - - - -
?/? c.-3195G>A r.(=) p.(=) g.76127813C>T Copied from the Exome Variant Server TMC6_000237 1/12784 0/8476 1/4308 - - - - - - -
?/? c.-3192G>C r.(=) p.(=) g.76127810C>G Copied from the Exome Variant Server TMC6_000236 1/12804 1/8488 0/4316 - - - - - - -
?/? c.-3169G>C r.(?) p.(Pro40Ala) g.76127787C>G Copied from the Exome Variant Server TMC6_000235 2/12764 2/8466 0/4298 - - - - - - -
?/? c.-3128A>G r.(?) p.(Met26Thr) g.76127746T>C Copied from the Exome Variant Server TMC6_000234 233/12560 218/8340 15/4220 - - - - - - -
?/? c.-3120C>T r.(=) p.(=) g.76127738G>A Copied from the Exome Variant Server TMC6_000233 66/12504 64/8304 2/4200 - - - - - - -
?/? c.-41G>A r.(=) p.(=) g.76122954C>T Copied from the Exome Variant Server TMC6_000232 112/12996 0/8598 112/4398 - - - - - - -
?/? c.-40C>T r.(=) p.(=) g.76122953G>A Copied from the Exome Variant Server TMC6_000231 1/12996 1/8598 0/4398 - - - - - - -
?/? c.-25A>C r.(=) p.(=) g.76122938T>G Copied from the Exome Variant Server TMC6_000230 4/13002 0/8598 4/4404 - - - - - - -
?/? c.7C>T r.(?) p.(Gln3*) g.76122907G>A Copied from the Exome Variant Server TMC6_000229 1/13004 0/8598 1/4406 - - - - - - -
?/? c.7_8insC r.(?) p.(Gln3Profs*11) g.76122906_76122907insG Copied from the Exome Variant Server TMC6_000228 100/12512 71/8252 29/4260 - - - - - - -
?/? c.27C>T r.(=) p.(=) g.76122887G>A Copied from the Exome Variant Server TMC6_000227 1/13004 1/8598 0/4406 - - - - - - -
?/? c.56+20G>A r.(=) p.(=) g.76122838C>T Copied from the Exome Variant Server TMC6_000226 1/13000 0/8598 1/4402 - - - - - - -
?/? c.57-20C>G r.(=) p.(=) g.76122749G>C Copied from the Exome Variant Server TMC6_000225 1/12988 0/8590 1/4398 - - - - - - -
?/? c.57-18_57-17insC r.(=) p.(=) g.76122746_76122747insG Copied from the Exome Variant Server TMC6_000224 27/12436 11/8210 16/4226 - - - - - - -
?/? c.57-17G>A r.(=) p.(=) g.76122746C>T Copied from the Exome Variant Server TMC6_000223 1/12986 1/8588 0/4398 - - - - - - -
?/? c.74A>G r.(?) p.(Tyr25Cys) g.76122712T>C Copied from the Exome Variant Server TMC6_000222 1/13002 1/8598 0/4404 - - - - - - -
?/? c.75T>C r.(=) p.(=) g.76122711A>G Copied from the Exome Variant Server TMC6_000221 1/13002 1/8598 0/4404 - - - - - - -
?/? c.94G>A r.(?) p.(Asp32Asn) g.76122692C>T Copied from the Exome Variant Server TMC6_000220 3/13006 3/8600 0/4406 - - - - - - -
?/? c.129G>C r.(?) p.(Gln43His) g.76122657C>G Copied from the Exome Variant Server TMC6_000219 2/13006 0/8600 2/4406 - - - - - - -
?/? c.135G>A r.(=) p.(=) g.76122651C>T Copied from the Exome Variant Server TMC6_000218 5/13006 4/8600 1/4406 - - - - - - -
?/? c.169C>T r.(?) p.(Arg57Trp) g.76122617G>A Copied from the Exome Variant Server TMC6_000217 1/13006 0/8600 1/4406 - - - - - - -
?/? c.181+6C>T r.(=) p.(=) g.76122599G>A Copied from the Exome Variant Server TMC6_000216 43/13006 1/8600 42/4406 - - - - - - -
?/? c.182-25del r.(=) p.(=) g.76122472del Copied from the Exome Variant Server TMC6_000215 7/12494 5/8246 2/4248 - - - - - - -
?/? c.225C>A r.(?) p.(Ser75Arg) g.76122404G>T Copied from the Exome Variant Server TMC6_000214 1/12902 1/8556 0/4346 - - - - - - -
?/? c.228G>A r.(=) p.(=) g.76122401C>T Copied from the Exome Variant Server TMC6_000213 1/12892 0/8546 1/4346 - - - - - - -
?/? c.263G>A r.(?) p.(Arg88His) g.76122366C>T Copied from the Exome Variant Server TMC6_000212 1/12816 0/8498 1/4318 - - - - - - -
?/? c.271+7G>A r.(=) p.(=) g.76122351C>T Copied from the Exome Variant Server TMC6_000211 3/12808 3/8496 0/4312 - - - - - - -
?/? c.271+32C>T r.(=) p.(=) g.76122326G>A Copied from the Exome Variant Server TMC6_000210 2/12432 1/8258 1/4174 - - - - - - -
?/? c.272-43G>A r.(=) p.(=) g.76122008C>T Copied from the Exome Variant Server TMC6_000209 1/10930 1/7224 0/3706 - - - - - - -
?/? c.272-33G>A r.(=) p.(=) g.76121998C>T Copied from the Exome Variant Server TMC6_000208 2/11146 2/7386 0/3760 - - - - - - -
?/? c.272-26C>A r.(=) p.(=) g.76121991G>T Copied from the Exome Variant Server TMC6_000207 1/11274 1/7488 0/3786 - - - - - - -
?/? c.272-16C>G r.(=) p.(=) g.76121981G>C Copied from the Exome Variant Server TMC6_000206 7/11554 6/7678 1/3876 - - - - - - -
?/? c.281G>A r.(?) p.(Arg94Gln) g.76121956C>T Copied from the Exome Variant Server TMC6_000205 1/12182 0/8082 1/4100 - - - - - - -
?/? c.302A>T r.(?) p.(Tyr101Phe) g.76121935T>A Copied from the Exome Variant Server TMC6_000204 1/12432 0/8244 1/4188 - - - - - - -
?/? c.310C>T r.(?) p.(Arg104Cys) g.76121927G>A Copied from the Exome Variant Server TMC6_000203 1/12480 1/8286 0/4194 - - - - - - -
?/? c.314C>T r.(?) p.(Thr105Met) g.76121923G>A Copied from the Exome Variant Server TMC6_000202 1/12516 0/8306 1/4210 - - - - - - -
?/? c.315G>A r.(=) p.(=) g.76121922C>T Copied from the Exome Variant Server TMC6_000201 13/12514 9/8304 4/4210 - - - - - - -
?/? c.317T>C r.(?) p.(Val106Ala) g.76121920A>G Copied from the Exome Variant Server TMC6_000200 5/12520 4/8304 1/4216 - - - - - - -
?/? c.325C>T r.(?) p.(Arg109Trp) g.76121912G>A Copied from the Exome Variant Server TMC6_000199 2/12572 1/8346 1/4226 - - - - - - -
?/? c.340C>T r.(?) p.(Arg114Trp) g.76121897G>A Copied from the Exome Variant Server TMC6_000198 3/12650 3/8396 0/4254 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.76121868G>A Copied from the Exome Variant Server TMC6_000197 11/12782 11/8486 0/4296 - - - - - - -
?/? c.373T>C r.(?) p.(Trp125Arg) g.76121864A>G Copied from the Exome Variant Server TMC6_000196 3497/12800 1664/8494 1833/4306 - - - - - - -
?/? c.386G>A r.(?) p.(Arg129His) g.76121851C>T Copied from the Exome Variant Server TMC6_000195 2/12830 0/8512 2/4318 - - - - - - -
?/? c.390G>A r.(=) p.(=) g.76121847C>T Copied from the Exome Variant Server TMC6_000194 1/12846 1/8524 0/4322 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.76121844G>A Copied from the Exome Variant Server TMC6_000193 24/12854 0/8530 24/4324 - - - - - - -
?/? c.430+26A>T r.(=) p.(=) g.76121781T>A Copied from the Exome Variant Server TMC6_000192 191/12686 174/8436 17/4250 - - - - - - -
?/? c.430+47G>A r.(=) p.(=) g.76121760C>T Copied from the Exome Variant Server TMC6_000191 202/12224 187/8132 15/4092 - - - - - - -
?/? c.431-26G>T r.(=) p.(=) g.76121370C>A Copied from the Exome Variant Server TMC6_000190 52/12858 1/8514 51/4344 - - - - - - -
?/? c.457C>T r.(?) p.(Leu153Phe) g.76121318G>A Copied from the Exome Variant Server TMC6_000189 919/12982 806/8586 113/4396 - - - - - - -
?/? c.477A>C r.(=) p.(=) g.76121298T>G Copied from the Exome Variant Server TMC6_000188 2/12992 0/8594 2/4398 - - - - - - -
?/? c.481C>T r.(?) p.(Arg161Trp) g.76121294G>A Copied from the Exome Variant Server TMC6_000187 1/12994 0/8598 1/4396 - - - - - - -
?/? c.526C>T r.(?) p.(Arg176Cys) g.76121249G>A Copied from the Exome Variant Server TMC6_000186 1/12940 1/8566 0/4374 - - - - - - -
?/? c.536+14del r.(=) p.(=) g.76121225del Copied from the Exome Variant Server TMC6_000185 8/12306 2/8130 6/4176 - - - - - - -
?/? c.536+27C>T r.(=) p.(=) g.76121212G>A Copied from the Exome Variant Server TMC6_000184 1/12852 1/8514 0/4338 - - - - - - -
?/? c.536+31G>A r.(=) p.(=) g.76121208C>T Copied from the Exome Variant Server TMC6_000183 1/12832 1/8504 0/4328 - - - - - - -
?/? c.536+44del r.(=) p.(=) g.76121195del Copied from the Exome Variant Server TMC6_000182 60/12222 26/8094 34/4128 - - - - - - -
?/? c.536+45A>G r.(=) p.(=) g.76121194T>C Copied from the Exome Variant Server TMC6_000181 28/12760 0/8468 28/4292 - - - - - - -
?/? c.537-42C>T r.(=) p.(=) g.76121108G>A Copied from the Exome Variant Server TMC6_000180 1/12760 1/8460 0/4300 - - - - - - -
?/? c.554C>T r.(?) p.(Pro185Leu) g.76121049G>A Copied from the Exome Variant Server TMC6_000179 2/12872 0/8534 2/4338 - - - - - - -
?/? c.572G>A r.(?) p.(Gly191Asp) g.76121031C>T Copied from the Exome Variant Server TMC6_000178 1188/12898 524/8542 664/4356 - - - - - - -
?/? c.599C>T r.(?) p.(Ser200Phe) g.76121004G>A Copied from the Exome Variant Server TMC6_000177 366/12898 20/8540 346/4358 - - - - - - -
?/? c.610C>T r.(?) p.(Arg204Trp) g.76120993G>A Copied from the Exome Variant Server TMC6_000176 88/12906 7/8544 81/4362 - - - - - - -
?/? c.633+8C>T r.(=) p.(=) g.76120962G>A Copied from the Exome Variant Server TMC6_000175 2/12826 2/8498 0/4328 - - - - - - -
?/? c.633+16C>T r.(=) p.(=) g.76120954G>A Copied from the Exome Variant Server TMC6_000174 14/12704 13/8426 1/4278 - - - - - - -
?/? c.633+26G>A r.(=) p.(=) g.76120944C>T Copied from the Exome Variant Server TMC6_000173 1/12634 1/8392 0/4242 - - - - - - -
?/? c.634-38C>T r.(=) p.(=) g.76120900G>A Copied from the Exome Variant Server TMC6_000172 2/12758 2/8440 0/4318 - - - - - - -
?/? c.634-4G>A r.spl? p.? g.76120866C>T Copied from the Exome Variant Server TMC6_000171 3/12704 0/8396 3/4308 - - - - - - -
?/? c.666C>T r.(=) p.(=) g.76120830G>A Copied from the Exome Variant Server TMC6_000170 6/12758 1/8442 5/4316 - - - - - - -
?/? c.687G>A r.(=) p.(=) g.76120809C>T Copied from the Exome Variant Server TMC6_000169 4/12768 4/8446 0/4322 - - - - - - -
?/? c.696C>T r.(=) p.(=) g.76120800G>A Copied from the Exome Variant Server TMC6_000168 1/12772 0/8440 1/4332 - - - - - - -
?/? c.725G>T r.(?) p.(Gly242Val) g.76120771C>A Copied from the Exome Variant Server TMC6_000167 1/12784 1/8446 0/4338 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.76120764G>A Copied from the Exome Variant Server TMC6_000166 1/12812 0/8474 1/4338 - - - - - - -
?/? c.773T>C r.(?) p.(Phe258Ser) g.76120723A>G Copied from the Exome Variant Server TMC6_000165 1/12854 0/8490 1/4364 - - - - - - -
?/? c.781C>T r.(?) p.(Leu261Phe) g.76120715G>A Copied from the Exome Variant Server TMC6_000164 1/12864 1/8494 0/4370 - - - - - - -
?/? c.823G>T r.(?) p.(Val275Phe) g.76120673C>A Copied from the Exome Variant Server TMC6_000163 1/12844 1/8478 0/4366 - - - - - - -
?/? c.825C>T r.(=) p.(=) g.76120671G>A Copied from the Exome Variant Server TMC6_000162 4/12836 2/8476 2/4360 - - - - - - -
?/? c.835C>T r.(?) p.(Pro279Ser) g.76120661G>A Copied from the Exome Variant Server TMC6_000161 1/12832 1/8476 0/4356 - - - - - - -
?/? c.837C>T r.(=) p.(=) g.76120659G>A Copied from the Exome Variant Server TMC6_000160 1/12820 0/8464 1/4356 - - - - - - -
?/? c.838G>A r.(?) p.(Ala280Thr) g.76120658C>T Copied from the Exome Variant Server TMC6_000159 35/12810 1/8458 34/4352 - - - - - - -
?/? c.846G>A r.(=) p.(=) g.76120650C>T Copied from the Exome Variant Server TMC6_000158 10/12778 0/8438 10/4340 - - - - - - -
?/? c.847G>A r.(?) p.(Gly283Ser) g.76120649C>T Copied from the Exome Variant Server TMC6_000157 5/12788 5/8442 0/4346 - - - - - - -
?/? c.858C>T r.(=) p.(=) g.76120638G>A Copied from the Exome Variant Server TMC6_000156 17/12764 0/8424 17/4340 - - - - - - -
?/? c.859G>A r.(?) p.(Val287Ile) g.76120637C>T Copied from the Exome Variant Server TMC6_000155 216/12760 2/8418 214/4342 - - - - - - -
?/? c.890C>T r.(?) p.(Ala297Val) g.76120606G>A Copied from the Exome Variant Server TMC6_000154 4/12748 4/8420 0/4328 - - - - - - -
?/? c.891+17A>G r.(=) p.(=) g.76120588T>C Copied from the Exome Variant Server TMC6_000153 29/12692 26/8388 3/4304 - - - - - - -
?/? c.891+38G>C r.(=) p.(=) g.76120567C>G Copied from the Exome Variant Server TMC6_000152 14/12744 0/8424 14/4320 - - - - - - -
?/? c.892-33_892-32insA r.(=) p.(=) g.76120292_76120293insT Copied from the Exome Variant Server TMC6_000151 18/12508 1/8246 17/4262 - - - - - - -
?/? c.892-21G>A r.(=) p.(=) g.76120281C>T Copied from the Exome Variant Server TMC6_000150 1/12996 0/8594 1/4402 - - - - - - -
?/? c.892-8T>C r.(=) p.(=) g.76120268A>G Copied from the Exome Variant Server TMC6_000149 1/12996 1/8592 0/4404 - - - - - - -
?/? c.921C>T r.(=) p.(=) g.76120231G>A Copied from the Exome Variant Server TMC6_000148 1/13006 1/8600 0/4406 - - - - - - -
?/? c.939C>T r.(=) p.(=) g.76120213G>A Copied from the Exome Variant Server TMC6_000147 1/13006 1/8600 0/4406 - - - - - - -
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