Full data view for gene PTCH2

Information The variants shown are described using the NM_003738.4 transcript reference sequence.

271 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.-7C>A r.(=) p.(=) g.45308611G>T Copied from the Exome Variant Server PTCH2_000266 1/9402 1/6126 0/3276 - - - - - - -
?/? c.73-26G>A r.(=) p.(=) g.45307737C>T Copied from the Exome Variant Server PTCH2_000265 1/13006 1/8600 0/4406 - - - - - - -
?/? c.84del r.(?) p.(Ser29Alafs*2) g.45307700del Copied from the Exome Variant Server PTCH2_000264 1/12518 0/8252 1/4266 - - - - - - -
?/? c.90G>A r.(=) p.(=) g.45307694C>T Copied from the Exome Variant Server PTCH2_000263 114/13006 102/8600 12/4406 - - - - - - -
?/? c.129G>C r.(=) p.(=) g.45307655C>G Copied from the Exome Variant Server PTCH2_000268 1/13006 1/8600 0/4406 - - - - - - -
?/? c.162T>C r.(=) p.(=) g.45307622A>G Copied from the Exome Variant Server PTCH2_000261 1/13006 1/8600 0/4406 - - - - - - -
?/? c.190T>C r.(=) p.(=) g.45307594A>G Copied from the Exome Variant Server PTCH2_000259 3/13006 3/8600 0/4406 - - - - - - -
?/? c.203C>A r.(?) p.(Ala68Asp) g.45307581G>T Copied from the Exome Variant Server PTCH2_000257 1/13006 1/8600 0/4406 - - - - - - -
?/? c.257G>T r.(?) p.(Trp86Leu) g.45307527C>A Copied from the Exome Variant Server PTCH2_000255 1/13006 0/8600 1/4406 - - - - - - -
?/? c.265+8G>A r.(=) p.(=) g.45307511C>T Copied from the Exome Variant Server PTCH2_000253 1/13006 0/8600 1/4406 - - - - - - -
?/? c.265+13C>T r.(=) p.(=) g.45307506G>A Copied from the Exome Variant Server PTCH2_000251 4410/13006 2956/8600 1454/4406 - - - - - - -
?/? c.266-45C>T r.(=) p.(=) g.45298058G>A Copied from the Exome Variant Server PTCH2_000249 57/13002 0/8600 57/4402 - - - - - - -
?/? c.266-33T>C r.(=) p.(=) g.45298046A>G Copied from the Exome Variant Server PTCH2_000247 1/13006 1/8600 0/4406 - - - - - - -
?/? c.266-32T>C r.(=) p.(=) g.45298045A>G Copied from the Exome Variant Server PTCH2_000245 4/13006 0/8600 4/4406 - - - - - - -
?/? c.266-27C>G r.(=) p.(=) g.45298040G>C Copied from the Exome Variant Server PTCH2_000243 5/13006 0/8600 5/4406 - - - - - - -
?/? c.266-25C>G r.(=) p.(=) g.45298038G>C Copied from the Exome Variant Server PTCH2_000241 1/13006 0/8600 1/4406 - - - - - - -
?/? c.266-25_266-24insC r.(=) p.(=) g.45298037_45298038insG Copied from the Exome Variant Server PTCH2_000262 48/12510 22/8250 26/4260 - - - - - - -
?/? c.266-16_266-15del r.(=) p.(=) g.45298028_45298029del Copied from the Exome Variant Server PTCH2_000260 2/12518 2/8252 0/4266 - - - - - - -
?/? c.302A>G r.(?) p.(Lys101Arg) g.45297977T>C Copied from the Exome Variant Server PTCH2_000258 1/13006 0/8600 1/4406 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.45297958C>T Copied from the Exome Variant Server PTCH2_000256 5/13006 0/8600 5/4406 - - - - - - -
?/? c.446T>A r.(?) p.(Leu149His) g.45297833A>T Copied from the Exome Variant Server PTCH2_000254 1/13006 0/8600 1/4406 - - - - - - -
?/? c.455+13G>A r.(=) p.(=) g.45297811C>T Copied from the Exome Variant Server PTCH2_000252 1/13006 0/8600 1/4406 - - - - - - -
?/? c.455+16C>A r.(=) p.(=) g.45297808G>T Copied from the Exome Variant Server PTCH2_000250 1/13006 1/8600 0/4406 - - - - - - -
?/? c.455+35G>A r.(=) p.(=) g.45297789C>T Copied from the Exome Variant Server PTCH2_000248 1/13006 0/8600 1/4406 - - - - - - -
?/? c.455+40G>A r.(=) p.(=) g.45297784C>T Copied from the Exome Variant Server PTCH2_000246 35/13006 33/8600 2/4406 - - - - - - -
?/? c.456-37T>C r.(=) p.(=) g.45297753A>G Copied from the Exome Variant Server PTCH2_000244 3401/13006 1445/8600 1956/4406 - - - - - - -
?/? c.456-11G>A r.(=) p.(=) g.45297727C>T Copied from the Exome Variant Server PTCH2_000242 1/13006 0/8600 1/4406 - - - - - - -
?/? c.482A>G r.(?) p.(Tyr161Cys) g.45297690T>C Copied from the Exome Variant Server PTCH2_000240 1/13006 0/8600 1/4406 - - - - - - -
?/? c.525+27C>T r.(=) p.(=) g.45297620G>A Copied from the Exome Variant Server PTCH2_000239 1/13006 0/8600 1/4406 - - - - - - -
?/? c.525+44C>T r.(=) p.(=) g.45297603G>A Copied from the Exome Variant Server PTCH2_000238 2/13006 2/8600 0/4406 - - - - - - -
?/? c.525+45G>A r.(=) p.(=) g.45297602C>T Copied from the Exome Variant Server PTCH2_000237 4/13006 0/8600 4/4406 - - - - - - -
?/? c.525+63C>T r.(=) p.(=) g.45297584G>A Copied from the Exome Variant Server PTCH2_000236 1/4566 1/3182 0/1384 - - - - - - -
?/? c.525+64G>A r.(=) p.(=) g.45297583C>T Copied from the Exome Variant Server PTCH2_000235 63/4566 4/3182 59/1384 - - - - - - -
?/? c.526-38T>G r.(=) p.(=) g.45297507A>C Copied from the Exome Variant Server PTCH2_000234 52/13002 50/8596 2/4406 - - - - - - -
?/? c.526-16G>A r.(=) p.(=) g.45297485C>T Copied from the Exome Variant Server PTCH2_000233 6/13004 5/8598 1/4406 - - - - - - -
?/? c.563C>G r.(?) p.(Pro188Arg) g.45297432G>C Copied from the Exome Variant Server PTCH2_000232 1/12990 1/8590 0/4400 - - - - - - -
?/? c.606C>T r.(=) p.(=) g.45297389G>A Copied from the Exome Variant Server PTCH2_000231 3/12862 1/8514 2/4348 - - - - - - -
?/? c.618-38C>A r.(=) p.(=) g.45296753G>T Copied from the Exome Variant Server PTCH2_000230 1/13002 0/8598 1/4404 - - - - - - -
?/? c.618-37G>A r.(=) p.(=) g.45296752C>T Copied from the Exome Variant Server PTCH2_000229 2228/13002 1451/8600 777/4402 - - - - - - -
?/? c.622C>T r.(?) p.(Arg208Cys) g.45296711G>A Copied from the Exome Variant Server PTCH2_000228 18/13006 0/8600 18/4406 - - - - - - -
?/? c.626C>G r.(?) p.(Pro209Arg) g.45296707G>C Copied from the Exome Variant Server PTCH2_000227 2/13006 0/8600 2/4406 - - - - - - -
?/? c.627G>A r.(=) p.(=) g.45296706C>T Copied from the Exome Variant Server PTCH2_000226 1/13004 1/8600 0/4404 - - - - - - -
?/? c.687C>T r.(=) p.(=) g.45296646G>A Copied from the Exome Variant Server PTCH2_000225 159/13006 1/8600 158/4406 - - - - - - -
?/? c.703C>T r.(?) p.(Arg235Trp) g.45296630G>A Copied from the Exome Variant Server PTCH2_000224 1/13006 1/8600 0/4406 - - - - - - -
?/? c.704G>A r.(?) p.(Arg235Gln) g.45296629C>T Copied from the Exome Variant Server PTCH2_000223 1/13006 1/8600 0/4406 - - - - - - -
?/? c.735G>C r.(?) p.(Gln245His) g.45296598C>G Copied from the Exome Variant Server PTCH2_000222 8/13006 5/8600 3/4406 - - - - - - -
?/? c.814-35G>A r.(=) p.(=) g.45295737C>T Copied from the Exome Variant Server PTCH2_000221 1/13006 0/8600 1/4406 - - - - - - -
?/? c.814-34G>A r.(=) p.(=) g.45295736C>T Copied from the Exome Variant Server PTCH2_000220 1/13006 0/8600 1/4406 - - - - - - -
?/? c.814-29G>A r.(=) p.(=) g.45295731C>T Copied from the Exome Variant Server PTCH2_000219 1/13006 1/8600 0/4406 - - - - - - -
?/? c.814G>T r.(?) p.(Ala272Ser) g.45295702C>A Copied from the Exome Variant Server PTCH2_000218 1/13004 0/8598 1/4406 - - - - - - -
?/? c.840T>C r.(=) p.(=) g.45295676A>G Copied from the Exome Variant Server PTCH2_000217 46/13006 43/8600 3/4406 - - - - - - -
?/? c.848G>T r.(?) p.(Cys283Phe) g.45295668C>A Copied from the Exome Variant Server PTCH2_000216 1/13006 1/8600 0/4406 - - - - - - -
?/? c.873G>T r.(?) p.(Met291Ile) g.45295643C>A Copied from the Exome Variant Server PTCH2_000215 1/13006 1/8600 0/4406 - - - - - - -
?/? c.885G>A r.(=) p.(=) g.45295631C>T Copied from the Exome Variant Server PTCH2_000214 1/13006 0/8600 1/4406 - - - - - - -
?/? c.935+6G>A r.(=) p.(=) g.45295575C>T Copied from the Exome Variant Server PTCH2_000213 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936-24C>G r.(=) p.(=) g.45295457G>C Copied from the Exome Variant Server PTCH2_000210 1/13006 0/8600 1/4406 - - - - - - -
?/? c.977G>A r.(?) p.(Arg326His) g.45295392C>T Copied from the Exome Variant Server PTCH2_000207 1/13006 1/8600 0/4406 - - - - - - -
?/? c.998G>A r.(?) p.(Arg333Gln) g.45295371C>T Copied from the Exome Variant Server PTCH2_000205 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1007A>G r.(?) p.(Tyr336Cys) g.45295362T>C Copied from the Exome Variant Server PTCH2_000203 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1031G>T r.(?) p.(Ser344Ile) g.45295338C>A Copied from the Exome Variant Server PTCH2_000200 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1073G>A r.(?) p.(Arg358His) g.45295296C>T Copied from the Exome Variant Server PTCH2_000197 81/13006 69/8600 12/4406 - - - - - - -
?/? c.1080G>T r.(=) p.(=) g.45295289C>A Copied from the Exome Variant Server PTCH2_000194 100/13006 92/8600 8/4406 - - - - - - -
?/? c.1083+4G>A r.spl? p.? g.45295282C>T Copied from the Exome Variant Server PTCH2_000190 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1083+26del r.(=) p.(=) g.45295260del Copied from the Exome Variant Server PTCH2_000267 17/12520 12/8254 5/4266 - - - - - - -
?/? c.1084-31C>T r.(=) p.(=) g.45295236G>A Copied from the Exome Variant Server PTCH2_000271 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1088C>G r.(?) p.(Ala363Gly) g.45295201G>C Copied from the Exome Variant Server PTCH2_000182 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1112C>G r.(?) p.(Ala371Gly) g.45295177G>C Copied from the Exome Variant Server PTCH2_000212 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1136C>T r.(?) p.(Ser379Phe) g.45295153G>A Copied from the Exome Variant Server PTCH2_000209 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1137C>A r.(=) p.(=) g.45295152G>T Copied from the Exome Variant Server PTCH2_000270 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1181G>A r.(?) p.(Ser394Asn) g.45295108C>T Copied from the Exome Variant Server PTCH2_000269 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1189del r.(?) p.(Arg397Valfs*15) g.45295100del Copied from the Exome Variant Server PTCH2_000202 7/12520 7/8254 0/4266 - - - - - - -
?/? c.1190G>A r.(?) p.(Arg397His) g.45295099C>T Copied from the Exome Variant Server PTCH2_000199 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1215+18C>T r.(=) p.(=) g.45295056G>A Copied from the Exome Variant Server PTCH2_000196 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1215+36C>T r.(=) p.(=) g.45295038G>A Copied from the Exome Variant Server PTCH2_000193 9/13006 9/8600 0/4406 - - - - - - -
?/? c.1216-10C>G r.(=) p.(=) g.45294994G>C Copied from the Exome Variant Server PTCH2_000191 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1216-5C>G r.spl? p.? g.45294989G>C Copied from the Exome Variant Server PTCH2_000188 1/12996 1/8594 0/4402 - - - - - - -
?/? c.1223A>G r.(?) p.(Tyr408Cys) g.45294977T>C Copied from the Exome Variant Server PTCH2_000186 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1230T>G r.(?) p.(Cys410Trp) g.45294970A>C Copied from the Exome Variant Server PTCH2_000184 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1243C>T r.(?) p.(Arg415Trp) g.45294957G>A Copied from the Exome Variant Server PTCH2_000181 2/13000 0/8594 2/4406 - - - - - - -
?/? c.1267G>A r.(?) p.(Gly423Ser) g.45294933C>T Copied from the Exome Variant Server PTCH2_000179 1/13000 0/8594 1/4406 - - - - - - -
?/? c.1284C>T r.(=) p.(=) g.45294916G>A Copied from the Exome Variant Server PTCH2_000177 2/13002 2/8598 0/4404 - - - - - - -
?/? c.1326del r.(?) p.(Leu443Serfs*91) g.45294874del Copied from the Exome Variant Server PTCH2_000175 2/12520 1/8254 1/4266 - - - - - - -
?/? c.1371+4C>T r.spl? p.? g.45294825G>A Copied from the Exome Variant Server PTCH2_000173 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1371+8A>G r.(=) p.(=) g.45294821T>C Copied from the Exome Variant Server PTCH2_000171 98/13006 0/8600 98/4406 - - - - - - -
?/? c.1372-33G>A r.(=) p.(=) g.45294779C>T Copied from the Exome Variant Server PTCH2_000169 24/13004 19/8598 5/4406 - - - - - - -
?/? c.1372-24C>G r.(=) p.(=) g.45294770G>C Copied from the Exome Variant Server PTCH2_000167 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1372-19C>T r.(=) p.(=) g.45294765G>A Copied from the Exome Variant Server PTCH2_000165 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1372-18G>A r.(=) p.(=) g.45294764C>T Copied from the Exome Variant Server PTCH2_000163 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1372-2A>G r.spl? p.? g.45294748T>C Copied from the Exome Variant Server PTCH2_000161 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1395A>G r.(=) p.(=) g.45294723T>C Copied from the Exome Variant Server PTCH2_000159 1/12994 0/8596 1/4398 - - - - - - -
?/? c.1401C>T r.(=) p.(=) g.45294717G>A Copied from the Exome Variant Server PTCH2_000157 1/12990 1/8594 0/4396 - - - - - - -
?/? c.1410C>T r.(=) p.(=) g.45294708G>A Copied from the Exome Variant Server PTCH2_000211 1/12988 0/8594 1/4394 - - - - - - -
?/? c.1425G>A r.(=) p.(=) g.45294693C>T Copied from the Exome Variant Server PTCH2_000208 16/12972 13/8582 3/4390 - - - - - - -
?/? c.1465-49C>T r.(=) p.(=) g.45294352G>A Copied from the Exome Variant Server PTCH2_000206 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1465G>A r.(?) p.(Glu489Lys) g.45294303C>T Copied from the Exome Variant Server PTCH2_000204 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1468C>T r.(?) p.(Arg490Cys) g.45294300G>A Copied from the Exome Variant Server PTCH2_000201 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1477G>A r.(?) p.(Glu493Lys) g.45294291C>T Copied from the Exome Variant Server PTCH2_000198 9/13004 0/8600 9/4404 - - - - - - -
?/? c.1506C>T r.(=) p.(=) g.45294262G>A Copied from the Exome Variant Server PTCH2_000195 50/13006 0/8600 50/4406 - - - - - - -
?/? c.1507G>A r.(?) p.(Val503Ile) g.45294261C>T Copied from the Exome Variant Server PTCH2_000192 8/13006 3/8600 5/4406 - - - - - - -
?/? c.1519A>G r.(?) p.(Ile507Val) g.45294249T>C Copied from the Exome Variant Server PTCH2_000189 1/13006 1/8600 0/4406 - - - - - - -
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