Full data view for gene PDGFRB

Information The variants shown are described using the NM_002609.3 transcript reference sequence.

260 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.-6-32C>T r.(=) p.(=) g.149516648G>A Copied from the Exome Variant Server PDGFRB_000260 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-6-15T>C r.(=) p.(=) g.149516631A>G Copied from the Exome Variant Server PDGFRB_000259 14/13006 0/8600 14/4406 - - - - - - -
?/? c.-6-5T>C r.spl? p.? g.149516621A>G Copied from the Exome Variant Server PDGFRB_000257 1/13006 0/8600 1/4406 - - - - - - -
?/? c.4C>T r.(?) p.(Arg2Trp) g.149516607G>A Copied from the Exome Variant Server PDGFRB_000255 1/13006 1/8600 0/4406 - - - - - - -
?/? c.11C>A r.(?) p.(Pro4Gln) g.149516600G>T Copied from the Exome Variant Server PDGFRB_000253 3/13006 3/8600 0/4406 - - - - - - -
?/? c.12G>A r.(=) p.(=) g.149516599C>T Copied from the Exome Variant Server PDGFRB_000251 15/13006 0/8600 15/4406 - - - - - - -
?/? c.17C>T r.(?) p.(Ala6Val) g.149516594G>A Copied from the Exome Variant Server PDGFRB_000249 6/13006 5/8600 1/4406 - - - - - - -
?/? c.40+10T>C r.(=) p.(=) g.149516561A>G Copied from the Exome Variant Server PDGFRB_000247 1/13006 0/8600 1/4406 - - - - - - -
?/? c.40+32G>A r.(=) p.(=) g.149516539C>T Copied from the Exome Variant Server PDGFRB_000245 1/13006 1/8600 0/4406 - - - - - - -
?/? c.40+37G>T r.(=) p.(=) g.149516534C>A Copied from the Exome Variant Server PDGFRB_000258 17/13006 0/8600 17/4406 - - - - - - -
?/? c.40+47G>A r.(=) p.(=) g.149516524C>T Copied from the Exome Variant Server PDGFRB_000256 1/13006 1/8600 0/4406 - - - - - - -
?/? c.40+68G>A r.(=) p.(=) g.149516503C>T Copied from the Exome Variant Server PDGFRB_000254 1/4566 0/3182 1/1384 - - - - - - -
?/? c.41-24T>C r.(=) p.(=) g.149515465A>G Copied from the Exome Variant Server PDGFRB_000252 1/12998 0/8596 1/4402 - - - - - - -
?/? c.42C>T r.(=) p.(=) g.149515440G>A Copied from the Exome Variant Server PDGFRB_000250 1/13006 1/8600 0/4406 - - - - - - -
?/? c.43G>A r.(?) p.(Glu15Lys) g.149515439C>T Copied from the Exome Variant Server PDGFRB_000248 4/13006 3/8600 1/4406 - - - - - - -
?/? c.51G>A r.(=) p.(=) g.149515431C>T Copied from the Exome Variant Server PDGFRB_000246 2/13006 2/8600 0/4406 - - - - - - -
?/? c.85A>T r.(?) p.(Ile29Phe) g.149515397T>A Copied from the Exome Variant Server PDGFRB_000244 940/13006 7/8600 933/4406 - - - - - - -
?/? c.95G>A r.(?) p.(Gly32Asp) g.149515387C>T Copied from the Exome Variant Server PDGFRB_000243 1/13006 0/8600 1/4406 - - - - - - -
?/? c.102C>T r.(=) p.(=) g.149515380G>A Copied from the Exome Variant Server PDGFRB_000242 39/13006 4/8600 35/4406 - - - - - - -
?/? c.164C>T r.(?) p.(Ser55Leu) g.149515318G>A Copied from the Exome Variant Server PDGFRB_000241 1/13006 1/8600 0/4406 - - - - - - -
?/? c.175C>T r.(?) p.(Pro59Ser) g.149515307G>A Copied from the Exome Variant Server PDGFRB_000240 1/13006 1/8600 0/4406 - - - - - - -
?/? c.176C>T r.(?) p.(Pro59Leu) g.149515306G>A Copied from the Exome Variant Server PDGFRB_000239 1/13006 1/8600 0/4406 - - - - - - -
?/? c.190C>T r.(?) p.(Arg64Trp) g.149515292G>A Copied from the Exome Variant Server PDGFRB_000238 1/13006 1/8600 0/4406 - - - - - - -
?/? c.240C>A r.(=) p.(=) g.149515242G>T Copied from the Exome Variant Server PDGFRB_000237 1/13006 1/8600 0/4406 - - - - - - -
?/? c.250G>A r.(?) p.(Val84Met) g.149515232C>T Copied from the Exome Variant Server PDGFRB_000236 1/13006 0/8600 1/4406 - - - - - - -
?/? c.252G>A r.(=) p.(=) g.149515230C>T Copied from the Exome Variant Server PDGFRB_000235 1/13006 1/8600 0/4406 - - - - - - -
?/? c.257C>T r.(?) p.(Thr86Ile) g.149515225G>A Copied from the Exome Variant Server PDGFRB_000234 1/13006 0/8600 1/4406 - - - - - - -
?/? c.263C>T r.(?) p.(Thr88Ile) g.149515219G>A Copied from the Exome Variant Server PDGFRB_000233 4/13006 0/8600 4/4406 - - - - - - -
?/? c.270C>T r.(=) p.(=) g.149515212G>A Copied from the Exome Variant Server PDGFRB_000232 1/13006 0/8600 1/4406 - - - - - - -
?/? c.274G>T r.(?) p.(Gly92Trp) g.149515208C>A Copied from the Exome Variant Server PDGFRB_000231 1/13006 1/8600 0/4406 - - - - - - -
?/? c.296T>G r.(?) p.(Phe99Cys) g.149515186A>C Copied from the Exome Variant Server PDGFRB_000230 1/13006 0/8600 1/4406 - - - - - - -
?/? c.312C>T r.(=) p.(=) g.149515170G>A Copied from the Exome Variant Server PDGFRB_000229 2/13006 0/8600 2/4406 - - - - - - -
?/? c.332A>G r.(?) p.(Asp111Gly) g.149515150T>C Copied from the Exome Variant Server PDGFRB_000228 1/13006 0/8600 1/4406 - - - - - - -
?/? c.333T>C r.(=) p.(=) g.149515149A>G Copied from the Exome Variant Server PDGFRB_000227 1/13006 1/8600 0/4406 - - - - - - -
?/? c.364+18G>C r.(=) p.(=) g.149515100C>G Copied from the Exome Variant Server PDGFRB_000226 1/13006 1/8600 0/4406 - - - - - - -
?/? c.364+29C>T r.(=) p.(=) g.149515089G>A Copied from the Exome Variant Server PDGFRB_000225 1/13006 0/8600 1/4406 - - - - - - -
?/? c.364+44C>T r.(=) p.(=) g.149515074G>A Copied from the Exome Variant Server PDGFRB_000224 5975/13006 4572/8600 1403/4406 - - - - - - -
?/? c.365-51A>T r.(=) p.(=) g.149514630T>A Copied from the Exome Variant Server PDGFRB_000223 5/13002 1/8600 4/4402 - - - - - - -
?/? c.365-33C>A r.(=) p.(=) g.149514612G>T Copied from the Exome Variant Server PDGFRB_000222 1/13002 0/8600 1/4402 - - - - - - -
?/? c.365-29T>C r.(=) p.(=) g.149514608A>G Copied from the Exome Variant Server PDGFRB_000221 29/13002 0/8600 29/4402 - - - - - - -
?/? c.365-18C>T r.(=) p.(=) g.149514597G>A Copied from the Exome Variant Server PDGFRB_000220 3/13006 0/8600 3/4406 - - - - - - -
?/? c.365-4G>T r.spl? p.? g.149514583C>A Copied from the Exome Variant Server PDGFRB_000219 73/13006 1/8600 72/4406 - - - - - - -
?/? c.366T>C r.(=) p.(=) g.149514578A>G Copied from the Exome Variant Server PDGFRB_000218 1/13006 0/8600 1/4406 - - - - - - -
?/? c.377G>A r.(?) p.(Gly126Asp) g.149514567C>T Copied from the Exome Variant Server PDGFRB_000217 1/13006 1/8600 0/4406 - - - - - - -
?/? c.419C>T r.(?) p.(Thr140Met) g.149514525G>A Copied from the Exome Variant Server PDGFRB_000216 1/13006 1/8600 0/4406 - - - - - - -
?/? c.499G>A r.(?) p.(Val167Ile) g.149514445C>T Copied from the Exome Variant Server PDGFRB_000215 3/13006 0/8600 3/4406 - - - - - - -
?/? c.505C>T r.(=) p.(=) g.149514439G>A Copied from the Exome Variant Server PDGFRB_000214 1/13006 1/8600 0/4406 - - - - - - -
?/? c.529C>T r.(?) p.(Arg177Cys) g.149514415G>A Copied from the Exome Variant Server PDGFRB_000213 1/13006 0/8600 1/4406 - - - - - - -
?/? c.581T>C r.(?) p.(Ile194Thr) g.149514363A>G Copied from the Exome Variant Server PDGFRB_000212 14/13006 13/8600 1/4406 - - - - - - -
?/? c.586G>T r.(?) p.(Asp196Tyr) g.149514358C>A Copied from the Exome Variant Server PDGFRB_000211 1/13006 1/8600 0/4406 - - - - - - -
?/? c.590G>A r.(?) p.(Arg197Lys) g.149514354C>T Copied from the Exome Variant Server PDGFRB_000210 37/13006 0/8600 37/4406 - - - - - - -
?/? c.600T>C r.(=) p.(=) g.149514344A>G Copied from the Exome Variant Server PDGFRB_000209 1/13006 1/8600 0/4406 - - - - - - -
?/? c.624A>C r.(?) p.(Arg208Ser) g.149514320T>G Copied from the Exome Variant Server PDGFRB_000207 1/13006 1/8600 0/4406 - - - - - - -
?/? c.646G>A r.(?) p.(Val216Ile) g.149513557C>T Copied from the Exome Variant Server PDGFRB_000205 1/13006 1/8600 0/4406 - - - - - - -
?/? c.650C>G r.(?) p.(Ser217Cys) g.149513553G>C Copied from the Exome Variant Server PDGFRB_000203 1/13006 0/8600 1/4406 - - - - - - -
?/? c.683G>C r.(?) p.(Gly228Ala) g.149513520C>G Copied from the Exome Variant Server PDGFRB_000201 1/13006 0/8600 1/4406 - - - - - - -
?/? c.714C>T r.(=) p.(=) g.149513489G>A Copied from the Exome Variant Server PDGFRB_000199 21/13006 19/8600 2/4406 - - - - - - -
?/? c.726G>C r.(=) p.(=) g.149513477C>G Copied from the Exome Variant Server PDGFRB_000197 1/13006 0/8600 1/4406 - - - - - - -
?/? c.759+25G>A r.(=) p.(=) g.149513419C>T Copied from the Exome Variant Server PDGFRB_000195 3/13006 1/8600 2/4406 - - - - - - -
?/? c.759+41A>G r.(=) p.(=) g.149513403T>C Copied from the Exome Variant Server PDGFRB_000208 373/13006 1/8600 372/4406 - - - - - - -
?/? c.759+42C>T r.(=) p.(=) g.149513402G>A Copied from the Exome Variant Server PDGFRB_000206 2/13006 2/8600 0/4406 - - - - - - -
?/? c.760-44C>T r.(=) p.(=) g.149513367G>A Copied from the Exome Variant Server PDGFRB_000204 1/13006 0/8600 1/4406 - - - - - - -
?/? c.760-30T>C r.(=) p.(=) g.149513353A>G Copied from the Exome Variant Server PDGFRB_000202 1/13006 1/8600 0/4406 - - - - - - -
?/? c.760-27G>C r.(=) p.(=) g.149513350C>G Copied from the Exome Variant Server PDGFRB_000200 2/13006 1/8600 1/4406 - - - - - - -
?/? c.760-23G>A r.(=) p.(=) g.149513346C>T Copied from the Exome Variant Server PDGFRB_000198 2/13006 0/8600 2/4406 - - - - - - -
?/? c.766C>T r.(?) p.(Arg256Trp) g.149513317G>A Copied from the Exome Variant Server PDGFRB_000196 2/13006 2/8600 0/4406 - - - - - - -
?/? c.780G>A r.(=) p.(=) g.149513303C>T Copied from the Exome Variant Server PDGFRB_000194 2/13006 0/8600 2/4406 - - - - - - -
?/? c.783G>A r.(=) p.(=) g.149513300C>T Copied from the Exome Variant Server PDGFRB_000193 1/13006 1/8600 0/4406 - - - - - - -
?/? c.817C>T r.(?) p.(Arg273Cys) g.149513266G>A Copied from the Exome Variant Server PDGFRB_000192 1/13006 1/8600 0/4406 - - - - - - -
?/? c.832A>C r.(?) p.(Ile278Leu) g.149513251T>G Copied from the Exome Variant Server PDGFRB_000191 1/13006 0/8600 1/4406 - - - - - - -
?/? c.869C>G r.(?) p.(Thr290Ser) g.149513214G>C Copied from the Exome Variant Server PDGFRB_000190 1/13006 0/8600 1/4406 - - - - - - -
?/? c.881C>T r.(?) p.(Thr294Met) g.149513202G>A Copied from the Exome Variant Server PDGFRB_000189 1/13006 0/8600 1/4406 - - - - - - -
?/? c.934+37T>C r.(=) p.(=) g.149513112A>G Copied from the Exome Variant Server PDGFRB_000188 1/13006 1/8600 0/4406 - - - - - - -
?/? c.934+41C>T r.(=) p.(=) g.149513108G>A Copied from the Exome Variant Server PDGFRB_000187 1/13006 1/8600 0/4406 - - - - - - -
?/? c.945C>T r.(=) p.(=) g.149512495G>A Copied from the Exome Variant Server PDGFRB_000186 28/12952 0/8564 28/4388 - - - - - - -
?/? c.946G>A r.(?) p.(Val316Met) g.149512494C>T Copied from the Exome Variant Server PDGFRB_000185 40/12954 39/8566 1/4388 - - - - - - -
?/? c.968G>A r.(?) p.(Gly323Asp) g.149512472C>T Copied from the Exome Variant Server PDGFRB_000184 1/12994 0/8594 1/4400 - - - - - - -
?/? c.971C>T r.(?) p.(Thr324Ile) g.149512469G>A Copied from the Exome Variant Server PDGFRB_000183 3/12998 0/8596 3/4402 - - - - - - -
?/? c.983C>T r.(?) p.(Ala328Val) g.149512457G>A Copied from the Exome Variant Server PDGFRB_000182 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1000C>T r.(?) p.(Arg334Trp) g.149512440G>A Copied from the Exome Variant Server PDGFRB_000181 3/13004 3/8598 0/4406 - - - - - - -
?/? c.1001G>A r.(?) p.(Arg334Gln) g.149512439C>T Copied from the Exome Variant Server PDGFRB_000180 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1005A>G r.(=) p.(=) g.149512435T>C Copied from the Exome Variant Server PDGFRB_000179 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1033C>T r.(?) p.(Pro345Ser) g.149512407G>A Copied from the Exome Variant Server PDGFRB_000178 109/13006 94/8600 15/4406 - - - - - - -
?/? c.1045C>G r.(?) p.(Leu349Val) g.149512395G>C Copied from the Exome Variant Server PDGFRB_000177 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1063C>T r.(?) p.(Arg355Cys) g.149512377G>A Copied from the Exome Variant Server PDGFRB_000176 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1075G>A r.(?) p.(Asp359Asn) g.149512365C>T Copied from the Exome Variant Server PDGFRB_000175 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1083C>T r.(=) p.(=) g.149512357G>A Copied from the Exome Variant Server PDGFRB_000174 4/13004 4/8600 0/4404 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.149512351G>A Copied from the Exome Variant Server PDGFRB_000173 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1096G>A r.(?) p.(Ala366Thr) g.149512344C>T Copied from the Exome Variant Server PDGFRB_000172 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1106C>T r.(?) p.(Thr369Met) g.149512334G>A Copied from the Exome Variant Server PDGFRB_000171 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1114G>A r.(?) p.(Val372Met) g.149512326C>T Copied from the Exome Variant Server PDGFRB_000170 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1126C>T r.(?) p.(Arg376Trp) g.149512314G>A Copied from the Exome Variant Server PDGFRB_000169 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1128-32C>T r.(=) p.(=) g.149511689G>A Copied from the Exome Variant Server PDGFRB_000168 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1143G>T r.(=) p.(=) g.149511642C>A Copied from the Exome Variant Server PDGFRB_000167 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1149G>C r.(=) p.(=) g.149511636C>G Copied from the Exome Variant Server PDGFRB_000166 109/13006 100/8600 9/4406 - - - - - - -
?/? c.1154G>A r.(?) p.(Arg385His) g.149511631C>T Copied from the Exome Variant Server PDGFRB_000165 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1155C>T r.(=) p.(=) g.149511630G>A Copied from the Exome Variant Server PDGFRB_000164 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1176C>T r.(=) p.(=) g.149511609G>A Copied from the Exome Variant Server PDGFRB_000163 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1189C>T r.(?) p.(Arg397Trp) g.149511596G>A Copied from the Exome Variant Server PDGFRB_000162 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1217A>G r.(?) p.(Gln406Arg) g.149511568T>C Copied from the Exome Variant Server PDGFRB_000161 2/13006 1/8600 1/4406 - - - - - - -
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