Unique variants in gene PTCH1

Information The variants shown are described using the NM_000264.3 transcript reference sequence.

317 entries on 4 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.49_51del r.(?) p.(Gly17del) g.98270593_98270595del Copied from the Exome Variant Server PTCH1_000317 20/1462 16/1140 4/322
1 c.113G>T r.(?) p.(Gly38Val) g.98270531C>A Copied from the Exome Variant Server PTCH1_000316 4/12944 4/8570 0/4374
1 c.123T>C r.(=) p.(=) g.98270521A>G Copied from the Exome Variant Server PTCH1_000315 2/12974 2/8588 0/4386
1 c.130G>A r.(?) p.(Ala44Thr) g.98270514C>T Copied from the Exome Variant Server PTCH1_000314 1/12986 1/8594 0/4392
1 c.132G>A r.(=) p.(=) g.98270512C>T Copied from the Exome Variant Server PTCH1_000313 1/12992 1/8598 0/4394
1 c.139C>T r.(?) p.(Arg47Trp) g.98270505G>A Copied from the Exome Variant Server PTCH1_000312 1/13000 1/8598 0/4402
1 c.147T>C r.(=) p.(=) g.98270497A>G Copied from the Exome Variant Server PTCH1_000311 2/13004 0/8600 2/4404
1 c.158C>T r.(?) p.(Pro53Leu) g.98270486G>A Copied from the Exome Variant Server PTCH1_000310 1/13002 1/8600 0/4402
1 c.174C>T r.(=) p.(=) g.98270470G>A Copied from the Exome Variant Server PTCH1_000309 1/13004 1/8598 0/4406
1 c.181G>A r.(?) p.(Ala61Thr) g.98270463C>T Copied from the Exome Variant Server PTCH1_000308 1/13006 1/8600 0/4406
1 c.201+22C>T r.(=) p.(=) g.98270421G>A Copied from the Exome Variant Server PTCH1_000307 2/13006 2/8600 0/4406
1 c.201+36C>T r.(=) p.(=) g.98270407G>A Copied from the Exome Variant Server PTCH1_000306 1/13000 1/8598 0/4402
1 c.201+44_201+47del r.(=) p.(=) g.98270396_98270399del Copied from the Exome Variant Server PTCH1_000305 74/12458 32/8224 42/4234
1 c.228G>A r.(=) p.(=) g.98268855C>T Copied from the Exome Variant Server PTCH1_000304 1/13006 1/8600 0/4406
1 c.254G>A r.(?) p.(Arg85Lys) g.98268829C>T Copied from the Exome Variant Server PTCH1_000303 1/13006 1/8600 0/4406
1 c.279C>T r.(=) p.(=) g.98268804G>A Copied from the Exome Variant Server PTCH1_000302 1/13006 1/8600 0/4406
1 c.285A>G r.(=) p.(=) g.98268798T>C Copied from the Exome Variant Server PTCH1_000301 1/13006 1/8600 0/4406
1 c.318C>T r.(=) p.(=) g.98268765G>A Copied from the Exome Variant Server PTCH1_000300 253/13006 230/8600 23/4406
1 c.324A>G r.(?) p.(Ile108Met) g.98268759T>C Copied from the Exome Variant Server PTCH1_000299 2/13006 2/8600 0/4406
1 c.357G>C r.(=) p.(=) g.98268726C>G Copied from the Exome Variant Server PTCH1_000298 1/13006 0/8600 1/4406
1 c.364G>A r.(?) p.(Glu122Lys) g.98268719C>T Copied from the Exome Variant Server PTCH1_000297 1/13006 1/8600 0/4406
1 c.394+12C>T r.(=) p.(=) g.98268677G>A Copied from the Exome Variant Server PTCH1_000296 1/12996 0/8596 1/4400
1 c.395-32C>G r.(=) p.(=) g.98248188G>C Copied from the Exome Variant Server PTCH1_000295 7/13006 0/8600 7/4406
1 c.395-12C>T r.(=) p.(=) g.98248168G>A Copied from the Exome Variant Server PTCH1_000294 1/13006 1/8600 0/4406
1 c.395-1G>A r.spl? p.? g.98248157C>T Copied from the Exome Variant Server PTCH1_000293 1/13006 1/8600 0/4406
1 c.404G>A r.(?) p.(Arg135Gln) g.98248147C>T Copied from the Exome Variant Server PTCH1_000292 1/13006 1/8600 0/4406
1 c.412C>T r.(?) p.(Arg138Cys) g.98248139G>A Copied from the Exome Variant Server PTCH1_000291 3/13006 3/8600 0/4406
1 c.420A>G r.(=) p.(=) g.98248131T>C Copied from the Exome Variant Server PTCH1_000290 2/13006 0/8600 2/4406
1 c.429T>A r.(=) p.(=) g.98248122A>T Copied from the Exome Variant Server PTCH1_000289 1/13006 0/8600 1/4406
1 c.463C>T r.(?) p.(Pro155Ser) g.98248088G>A Copied from the Exome Variant Server PTCH1_000288 1/13006 1/8600 0/4406
1 c.468A>G r.(=) p.(=) g.98248083T>C Copied from the Exome Variant Server PTCH1_000287 1/13006 1/8600 0/4406
1 c.493G>A r.(?) p.(Glu165Lys) g.98248058C>T Copied from the Exome Variant Server PTCH1_000286 1/13006 1/8600 0/4406
1 c.499G>A r.(?) p.(Ala167Thr) g.98248052C>T Copied from the Exome Variant Server PTCH1_000285 2/13006 0/8600 2/4406
1 c.552G>T r.(?) p.(Gln184His) g.98247999C>A Copied from the Exome Variant Server PTCH1_000284 1/13006 1/8600 0/4406
1 c.560G>A r.(?) p.(Arg187His) g.98247991C>T Copied from the Exome Variant Server PTCH1_000283 3/13006 0/8600 3/4406
1 c.567T>C r.(=) p.(=) g.98247984A>G Copied from the Exome Variant Server PTCH1_000282 3/13006 3/8600 0/4406
1 c.584+12C>T r.(=) p.(=) g.98247955G>A Copied from the Exome Variant Server PTCH1_000281 1/13006 0/8600 1/4406
1 c.584+14C>T r.(=) p.(=) g.98247953G>A Copied from the Exome Variant Server PTCH1_000280 1/13006 0/8600 1/4406
1 c.584+15G>A r.(=) p.(=) g.98247952C>T Copied from the Exome Variant Server PTCH1_000278 1/13006 1/8600 0/4406
1 c.584+19A>G r.(=) p.(=) g.98247948T>C Copied from the Exome Variant Server PTCH1_000276 1/13006 1/8600 0/4406
1 c.584+31G>A r.(=) p.(=) g.98247936C>T Copied from the Exome Variant Server PTCH1_000274 1/13006 0/8600 1/4406
1 c.584+46G>A r.(=) p.(=) g.98247921C>T Copied from the Exome Variant Server PTCH1_000272 1/13006 1/8600 0/4406
1 c.585-45C>G r.(=) p.(=) g.98244530G>C Copied from the Exome Variant Server PTCH1_000279 8/13000 8/8596 0/4404
1 c.585-34G>C r.(=) p.(=) g.98244519C>G Copied from the Exome Variant Server PTCH1_000277 1/13000 1/8598 0/4402
1 c.655-43T>G r.(=) p.(=) g.98244365A>C Copied from the Exome Variant Server PTCH1_000275 1/13006 1/8600 0/4406
1 c.655-29G>A r.(=) p.(=) g.98244351C>T Copied from the Exome Variant Server PTCH1_000273 2/13006 0/8600 2/4406
1 c.655-12T>C r.(=) p.(=) g.98244334A>G Copied from the Exome Variant Server PTCH1_000271 2/13006 0/8600 2/4406
1 c.724C>G r.(?) p.(Gln242Glu) g.98244253G>C Copied from the Exome Variant Server PTCH1_000270 1/13006 0/8600 1/4406
1 c.727T>C r.(?) p.(Ser243Pro) g.98244250A>G Copied from the Exome Variant Server PTCH1_000269 2/13006 2/8600 0/4406
1 c.728C>T r.(?) p.(Ser243Phe) g.98244249G>A Copied from the Exome Variant Server PTCH1_000268 1/13006 1/8600 0/4406
1 c.735A>G r.(=) p.(=) g.98244242T>C Copied from the Exome Variant Server PTCH1_000267 359/13006 329/8600 30/4406
1 c.746+7G>A r.(=) p.(=) g.98244224C>T Copied from the Exome Variant Server PTCH1_000266 1/13006 1/8600 0/4406
1 c.746+50G>A r.(=) p.(=) g.98244181C>T Copied from the Exome Variant Server PTCH1_000265 1/13006 1/8600 0/4406
1 c.747-47G>A r.(=) p.(=) g.98242917C>T Copied from the Exome Variant Server PTCH1_000264 1/13006 0/8600 1/4406
1 c.747-44T>C r.(=) p.(=) g.98242914A>G Copied from the Exome Variant Server PTCH1_000263 3/13006 0/8600 3/4406
1 c.747-22C>T r.(=) p.(=) g.98242892G>A Copied from the Exome Variant Server PTCH1_000262 1/13006 1/8600 0/4406
1 c.747-14A>C r.(=) p.(=) g.98242884T>G Copied from the Exome Variant Server PTCH1_000261 1/13006 1/8600 0/4406
1 c.779A>C r.(?) p.(Asp260Ala) g.98242838T>G Copied from the Exome Variant Server PTCH1_000260 1/13006 1/8600 0/4406
1 c.801G>A r.(=) p.(=) g.98242816C>T Copied from the Exome Variant Server PTCH1_000259 1/13006 1/8600 0/4406
1 c.882C>T r.(=) p.(=) g.98242735G>A Copied from the Exome Variant Server PTCH1_000258 3/13006 3/8600 0/4406
1 c.884C>T r.(?) p.(Pro295Leu) g.98242733G>A Copied from the Exome Variant Server PTCH1_000257 1/13006 1/8600 0/4406
1 c.896C>T r.(?) p.(Pro299Leu) g.98242721G>A Copied from the Exome Variant Server PTCH1_000256 1/13006 1/8600 0/4406
1 c.897G>A r.(=) p.(=) g.98242720C>T Copied from the Exome Variant Server PTCH1_000255 1/13006 1/8600 0/4406
1 c.915C>T r.(=) p.(=) g.98242702G>A Copied from the Exome Variant Server PTCH1_000254 1/13006 0/8600 1/4406
1 c.945+20G>A r.(=) p.(=) g.98242652C>T Copied from the Exome Variant Server PTCH1_000253 14/13006 13/8600 1/4406
1 c.945+24T>C r.(=) p.(=) g.98242648A>G Copied from the Exome Variant Server PTCH1_000252 1/13006 0/8600 1/4406
1 c.946-13C>T r.(=) p.(=) g.98242385G>A Copied from the Exome Variant Server PTCH1_000251 1/13006 0/8600 1/4406
1 c.947C>A r.(?) p.(Pro316His) g.98242371G>T Copied from the Exome Variant Server PTCH1_000250 1/13006 1/8600 0/4406
1 c.975T>C r.(=) p.(=) g.98242343A>G Copied from the Exome Variant Server PTCH1_000249 2/13006 2/8600 0/4406
1 c.1002T>C r.(=) p.(=) g.98242316A>G Copied from the Exome Variant Server PTCH1_000248 2/13006 0/8600 2/4406
1 c.1067+5G>C r.spl? p.? g.98242246C>G Copied from the Exome Variant Server PTCH1_000247 1/13006 1/8600 0/4406
1 c.1067+26A>G r.(=) p.(=) g.98242225T>C Copied from the Exome Variant Server PTCH1_000246 2/13006 0/8600 2/4406
1 c.1068-33T>C r.(=) p.(=) g.98241462A>G Copied from the Exome Variant Server PTCH1_000245 1/13006 0/8600 1/4406
1 c.1074T>C r.(=) p.(=) g.98241423A>G Copied from the Exome Variant Server PTCH1_000244 96/13006 0/8600 96/4406
1 c.1080G>A r.(=) p.(=) g.98241417C>T Copied from the Exome Variant Server PTCH1_000243 5/13006 1/8600 4/4406
1 c.1119C>T r.(=) p.(=) g.98241378G>A Copied from the Exome Variant Server PTCH1_000242 96/13006 0/8600 96/4406
1 c.1120G>A r.(?) p.(Glu374Lys) g.98241377C>T Copied from the Exome Variant Server PTCH1_000241 1/13006 0/8600 1/4406
1 c.1123C>T r.(?) p.(His375Tyr) g.98241374G>A Copied from the Exome Variant Server PTCH1_000240 1/13006 0/8600 1/4406
1 c.1164C>T r.(=) p.(=) g.98241333G>A Copied from the Exome Variant Server PTCH1_000239 1/13006 1/8600 0/4406
1 c.1183A>G r.(?) p.(Ile395Val) g.98241314T>C Copied from the Exome Variant Server PTCH1_000238 4/13006 0/8600 4/4406
1 c.1186C>G r.(?) p.(Leu396Val) g.98241311G>C Copied from the Exome Variant Server PTCH1_000237 1/13006 1/8600 0/4406
1 c.1193C>T r.(?) p.(Ala398Val) g.98241304G>A Copied from the Exome Variant Server PTCH1_000236 1/13006 1/8600 0/4406
1 c.1215+14C>T r.(=) p.(=) g.98241268G>A Copied from the Exome Variant Server PTCH1_000235 2/13006 2/8600 0/4406
1 c.1215+23G>A r.(=) p.(=) g.98241259C>T Copied from the Exome Variant Server PTCH1_000234 34/13006 28/8600 6/4406
1 c.1215+40A>G r.(=) p.(=) g.98241242T>C Copied from the Exome Variant Server PTCH1_000233 16/13006 0/8600 16/4406
1 c.1215+45A>G r.(=) p.(=) g.98241237T>C Copied from the Exome Variant Server PTCH1_000231 6/13006 6/8600 0/4406
1 c.1216-51T>C r.(=) p.(=) g.98240519A>G Copied from the Exome Variant Server PTCH1_000229 3/13006 0/8600 3/4406
1 c.1216-32T>A r.(=) p.(=) g.98240500A>T Copied from the Exome Variant Server PTCH1_000227 1/13006 1/8600 0/4406
1 c.1216-21C>T r.(=) p.(=) g.98240489G>A Copied from the Exome Variant Server PTCH1_000225 1/13006 1/8600 0/4406
1 c.1216-6C>A r.(=) p.(=) g.98240474G>T Copied from the Exome Variant Server PTCH1_000223 3/13006 3/8600 0/4406
1 c.1234G>T r.(?) p.(Ala412Ser) g.98240450C>A Copied from the Exome Variant Server PTCH1_000221 1/13006 0/8600 1/4406
1 c.1285G>A r.(?) p.(Asp429Asn) g.98240399C>T Copied from the Exome Variant Server PTCH1_000219 1/13006 0/8600 1/4406
1 c.1306G>A r.(?) p.(Asp436Asn) g.98240378C>T Copied from the Exome Variant Server PTCH1_000232 4/13006 4/8600 0/4406
1 c.1308C>T r.(=) p.(=) g.98240376G>A Copied from the Exome Variant Server PTCH1_000230 1/13006 0/8600 1/4406
1 c.1332C>T r.(=) p.(=) g.98240352G>A Copied from the Exome Variant Server PTCH1_000228 1/13006 0/8600 1/4406
1 c.1347+10G>A r.(=) p.(=) g.98240327C>T Copied from the Exome Variant Server PTCH1_000226 1/13006 0/8600 1/4406
1 c.1347+15C>T r.(=) p.(=) g.98240322G>A Copied from the Exome Variant Server PTCH1_000224 2/13006 0/8600 2/4406
1 c.1347+17T>C r.(=) p.(=) g.98240320A>G Copied from the Exome Variant Server PTCH1_000222 1/13006 0/8600 1/4406
1 c.1347+24G>T r.(=) p.(=) g.98240313C>A Copied from the Exome Variant Server PTCH1_000220 2/13006 0/8600 2/4406
1 c.1348-50A>C r.(=) p.(=) g.98240034T>G Copied from the Exome Variant Server PTCH1_000218 49/12996 0/8600 49/4396
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