Full data view for gene RASA3

Information The variants shown are described using the NM_007368.2 transcript reference sequence.

289 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.7G>C r.(?) p.(Val3Leu) g.114897958C>G Copied from the Exome Variant Server RASA3_000288 1/12264 0/8150 1/4114 - - - - - - -
?/? c.55+27C>T r.(=) p.(=) g.114897883G>A Copied from the Exome Variant Server RASA3_000287 14/12314 0/8198 14/4116 - - - - - - -
?/? c.55+32C>T r.(=) p.(=) g.114897878G>A Copied from the Exome Variant Server RASA3_000286 1/12254 1/8168 0/4086 - - - - - - -
?/? c.56-34G>A r.(=) p.(=) g.114839346C>T Copied from the Exome Variant Server RASA3_000285 1/13006 0/8600 1/4406 - - - - - - -
?/? c.56-16C>T r.(=) p.(=) g.114839328G>A Copied from the Exome Variant Server RASA3_000284 1/13006 1/8600 0/4406 - - - - - - -
?/? c.56-15G>A r.(=) p.(=) g.114839327C>T Copied from the Exome Variant Server RASA3_000283 2/13006 2/8600 0/4406 - - - - - - -
?/? c.56-9A>T r.(=) p.(=) g.114839321T>A Copied from the Exome Variant Server RASA3_000282 2/13006 0/8600 2/4406 - - - - - - -
?/? c.56-7T>A r.(=) p.(=) g.114839319A>T Copied from the Exome Variant Server RASA3_000281 1/13006 1/8600 0/4406 - - - - - - -
?/? c.95A>G r.(?) p.(Lys32Arg) g.114839273T>C Copied from the Exome Variant Server RASA3_000280 1/13006 1/8600 0/4406 - - - - - - -
?/? c.136G>A r.(?) p.(Glu46Lys) g.114839232C>T Copied from the Exome Variant Server RASA3_000279 1/13006 1/8600 0/4406 - - - - - - -
?/? c.173+3A>G r.spl? p.? g.114839192T>C Copied from the Exome Variant Server RASA3_000278 1/13006 1/8600 0/4406 - - - - - - -
?/? c.173+26G>A r.(=) p.(=) g.114839169C>T Copied from the Exome Variant Server RASA3_000277 1/13006 0/8600 1/4406 - - - - - - -
?/? c.173+46G>C r.(=) p.(=) g.114839149C>G Copied from the Exome Variant Server RASA3_000276 1/13006 1/8600 0/4406 - - - - - - -
?/? c.173+49T>C r.(=) p.(=) g.114839146A>G Copied from the Exome Variant Server RASA3_000275 1/13006 0/8600 1/4406 - - - - - - -
?/? c.174-48C>T r.(=) p.(=) g.114817678G>A Copied from the Exome Variant Server RASA3_000274 17/12982 1/8590 16/4392 - - - - - - -
?/? c.174-47G>A r.(=) p.(=) g.114817677C>T Copied from the Exome Variant Server RASA3_000273 3/12982 0/8590 3/4392 - - - - - - -
?/? c.174-29C>A r.(=) p.(=) g.114817659G>T Copied from the Exome Variant Server RASA3_000272 1896/12996 1619/8596 277/4400 - - - - - - -
?/? c.174-22G>T r.(=) p.(=) g.114817652C>A Copied from the Exome Variant Server RASA3_000271 26/13004 0/8600 26/4404 - - - - - - -
?/? c.174-21C>T r.(=) p.(=) g.114817651G>A Copied from the Exome Variant Server RASA3_000270 1/13004 0/8600 1/4404 - - - - - - -
?/? c.174-18T>A r.(=) p.(=) g.114817648A>T Copied from the Exome Variant Server RASA3_000269 1/13002 0/8600 1/4402 - - - - - - -
?/? c.174-1del r.spl? p.? g.114817631del Copied from the Exome Variant Server RASA3_000268 1/12516 1/8254 0/4262 - - - - - - -
?/? c.183C>T r.(=) p.(=) g.114817621G>A Copied from the Exome Variant Server RASA3_000267 2/13000 0/8596 2/4404 - - - - - - -
?/? c.189_191del r.(?) p.(Glu63del) g.114817613_114817615del Copied from the Exome Variant Server RASA3_000266 1/12512 0/8250 1/4262 - - - - - - -
?/? c.211C>T r.(?) p.(Arg71Trp) g.114817593G>A Copied from the Exome Variant Server RASA3_000265 1/13004 0/8598 1/4406 - - - - - - -
?/? c.229T>G r.(?) p.(Ser77Ala) g.114817575A>C Copied from the Exome Variant Server RASA3_000264 1/13004 1/8598 0/4406 - - - - - - -
?/? c.273C>T r.(=) p.(=) g.114817531G>A Copied from the Exome Variant Server RASA3_000263 1/13006 1/8600 0/4406 - - - - - - -
?/? c.277+14_277+15insG r.(=) p.(=) g.114817512_114817513insC Copied from the Exome Variant Server RASA3_000262 1/12518 1/8254 0/4264 - - - - - - -
?/? c.278-37T>C r.(=) p.(=) g.114806607A>G Copied from the Exome Variant Server RASA3_000261 175/13004 2/8600 173/4404 - - - - - - -
?/? c.278-31C>T r.(=) p.(=) g.114806601G>A Copied from the Exome Variant Server RASA3_000260 1/13004 0/8600 1/4404 - - - - - - -
?/? c.278-30G>A r.(=) p.(=) g.114806600C>T Copied from the Exome Variant Server RASA3_000259 35/13004 0/8600 35/4404 - - - - - - -
?/? c.318C>G r.(?) p.(His106Gln) g.114806530G>C Copied from the Exome Variant Server RASA3_000258 1/13006 1/8600 0/4406 - - - - - - -
?/? c.346C>T r.(?) p.(His116Tyr) g.114806502G>A Copied from the Exome Variant Server RASA3_000257 4/13006 4/8600 0/4406 - - - - - - -
?/? c.363G>A r.(=) p.(=) g.114806485C>T Copied from the Exome Variant Server RASA3_000256 3/13006 0/8600 3/4406 - - - - - - -
?/? c.372+12G>A r.(=) p.(=) g.114806464C>T Copied from the Exome Variant Server RASA3_000255 3/13006 0/8600 3/4406 - - - - - - -
?/? c.372+13G>A r.(=) p.(=) g.114806463C>T Copied from the Exome Variant Server RASA3_000254 2/13006 0/8600 2/4406 - - - - - - -
?/? c.372+15G>A r.(=) p.(=) g.114806461C>T Copied from the Exome Variant Server RASA3_000253 1/13006 0/8600 1/4406 - - - - - - -
?/? c.372+22C>T r.(=) p.(=) g.114806454G>A Copied from the Exome Variant Server RASA3_000252 3/13006 3/8600 0/4406 - - - - - - -
?/? c.372+50G>A r.(=) p.(=) g.114806426C>T Copied from the Exome Variant Server RASA3_000251 1/13006 1/8600 0/4406 - - - - - - -
?/? c.373-51C>T r.(=) p.(=) g.114795414G>A Copied from the Exome Variant Server RASA3_000250 3/12616 3/8334 0/4282 - - - - - - -
?/? c.373-38C>G r.(=) p.(=) g.114795401G>C Copied from the Exome Variant Server RASA3_000249 3/12742 3/8434 0/4308 - - - - - - -
?/? c.373-37G>A r.(=) p.(=) g.114795400C>T Copied from the Exome Variant Server RASA3_000248 139/12762 6/8446 133/4316 - - - - - - -
?/? c.373-33_373-32insCCC r.(=) p.(=) g.114795395_114795396insGGG Copied from the Exome Variant Server RASA3_000247 182/12270 109/8098 73/4172 - - - - - - -
?/? c.373-18C>T r.(=) p.(=) g.114795381G>A Copied from the Exome Variant Server RASA3_000246 3/12904 1/8544 2/4360 - - - - - - -
?/? c.397C>T r.(=) p.(=) g.114795339G>A Copied from the Exome Variant Server RASA3_000245 1/12992 0/8588 1/4404 - - - - - - -
?/? c.444C>T r.(=) p.(=) g.114795292G>A Copied from the Exome Variant Server RASA3_000244 1/12996 1/8596 0/4400 - - - - - - -
?/? c.448C>T r.(?) p.(Arg150Cys) g.114795288G>A Copied from the Exome Variant Server RASA3_000243 1/12996 0/8596 1/4400 - - - - - - -
?/? c.449G>A r.(?) p.(Arg150His) g.114795287C>T Copied from the Exome Variant Server RASA3_000242 1/12996 0/8596 1/4400 - - - - - - -
?/? c.449+8A>G r.(=) p.(=) g.114795279T>C Copied from the Exome Variant Server RASA3_000241 2/12998 2/8598 0/4400 - - - - - - -
?/? c.449+25C>A r.(=) p.(=) g.114795262G>T Copied from the Exome Variant Server RASA3_000240 7/12994 0/8592 7/4402 - - - - - - -
?/? c.449+28G>A r.(=) p.(=) g.114795259C>T Copied from the Exome Variant Server RASA3_000239 1/12988 0/8588 1/4400 - - - - - - -
?/? c.450-50G>A r.(=) p.(=) g.114793453C>T Copied from the Exome Variant Server RASA3_000238 1/13000 0/8598 1/4402 - - - - - - -
?/? c.450-36G>A r.(=) p.(=) g.114793439C>T Copied from the Exome Variant Server RASA3_000237 2/13004 0/8600 2/4404 - - - - - - -
?/? c.450-33C>T r.(=) p.(=) g.114793436G>A Copied from the Exome Variant Server RASA3_000236 1/13006 0/8600 1/4406 - - - - - - -
?/? c.450-24C>T r.(=) p.(=) g.114793427G>A Copied from the Exome Variant Server RASA3_000235 1/13006 0/8600 1/4406 - - - - - - -
?/? c.450-23G>A r.(=) p.(=) g.114793426C>T Copied from the Exome Variant Server RASA3_000234 1/13006 0/8600 1/4406 - - - - - - -
?/? c.450-13C>T r.(=) p.(=) g.114793416G>A Copied from the Exome Variant Server RASA3_000233 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507C>T r.(=) p.(=) g.114793346G>A Copied from the Exome Variant Server RASA3_000232 5/13006 0/8600 5/4406 - - - - - - -
?/? c.530+14C>T r.(=) p.(=) g.114793309G>A Copied from the Exome Variant Server RASA3_000231 6/13006 5/8600 1/4406 - - - - - - -
?/? c.530+29_530+33del r.(=) p.(=) g.114793290_114793294del Copied from the Exome Variant Server RASA3_000230 17/12518 16/8254 1/4264 - - - - - - -
?/? c.531-29A>G r.(=) p.(=) g.114792966T>C Copied from the Exome Variant Server RASA3_000229 1/13002 1/8600 0/4402 - - - - - - -
?/? c.531-8G>C r.(=) p.(=) g.114792945C>G Copied from the Exome Variant Server RASA3_000228 1/13002 0/8598 1/4404 - - - - - - -
?/? c.561G>A r.(=) p.(=) g.114792907C>T Copied from the Exome Variant Server RASA3_000227 1/13006 0/8600 1/4406 - - - - - - -
?/? c.582C>T r.(=) p.(=) g.114792886G>A Copied from the Exome Variant Server RASA3_000224 5/13004 5/8598 0/4406 - - - - - - -
?/? c.603G>A r.(=) p.(=) g.114792865C>T Copied from the Exome Variant Server RASA3_000222 3/13006 2/8600 1/4406 - - - - - - -
?/? c.603+13A>G r.(=) p.(=) g.114792852T>C Copied from the Exome Variant Server RASA3_000226 1/13004 1/8600 0/4404 - - - - - - -
?/? c.603+19C>T r.(=) p.(=) g.114792846G>A Copied from the Exome Variant Server RASA3_000225 1/13004 0/8600 1/4404 - - - - - - -
?/? c.603+23G>A r.(=) p.(=) g.114792842C>T Copied from the Exome Variant Server RASA3_000223 9151/13004 5450/8600 3701/4404 - - - - - - -
?/? c.603+31G>A r.(=) p.(=) g.114792834C>T Copied from the Exome Variant Server RASA3_000221 2/13002 2/8600 0/4402 - - - - - - -
?/? c.603+44C>T r.(=) p.(=) g.114792821G>A Copied from the Exome Variant Server RASA3_000220 1/13000 0/8600 1/4400 - - - - - - -
?/? c.604-58A>G r.(=) p.(=) g.114789889T>C Copied from the Exome Variant Server RASA3_000219 3/4566 0/3182 3/1384 - - - - - - -
?/? c.604-50C>T r.(=) p.(=) g.114789881G>A Copied from the Exome Variant Server RASA3_000218 95/13006 1/8600 94/4406 - - - - - - -
?/? c.604-14_604-13del r.(=) p.(=) g.114789844_114789845del Copied from the Exome Variant Server RASA3_000217 2/12518 0/8254 2/4264 - - - - - - -
?/? c.612G>A r.(=) p.(=) g.114789823C>T Copied from the Exome Variant Server RASA3_000216 1/13006 1/8600 0/4406 - - - - - - -
?/? c.615C>G r.(=) p.(=) g.114789820G>C Copied from the Exome Variant Server RASA3_000215 1/13006 0/8600 1/4406 - - - - - - -
?/? c.618T>C r.(=) p.(=) g.114789817A>G Copied from the Exome Variant Server RASA3_000214 2/13006 2/8600 0/4406 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.114789814G>A Copied from the Exome Variant Server RASA3_000213 2/13006 0/8600 2/4406 - - - - - - -
?/? c.630G>C r.(?) p.(Lys210Asn) g.114789805C>G Copied from the Exome Variant Server RASA3_000212 1/13006 0/8600 1/4406 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.114789775G>A Copied from the Exome Variant Server RASA3_000211 1/13006 1/8600 0/4406 - - - - - - -
?/? c.673G>A r.(?) p.(Glu225Lys) g.114789762C>T Copied from the Exome Variant Server RASA3_000210 1/13006 1/8600 0/4406 - - - - - - -
?/? c.680+5G>T r.spl? p.? g.114789750C>A Copied from the Exome Variant Server RASA3_000209 1/13006 0/8600 1/4406 - - - - - - -
?/? c.680+18C>T r.(=) p.(=) g.114789737G>A Copied from the Exome Variant Server RASA3_000208 2/13006 1/8600 1/4406 - - - - - - -
?/? c.680+19G>A r.(=) p.(=) g.114789736C>T Copied from the Exome Variant Server RASA3_000207 11/13006 10/8600 1/4406 - - - - - - -
?/? c.680+28A>C r.(=) p.(=) g.114789727T>G Copied from the Exome Variant Server RASA3_000206 9/13006 0/8600 9/4406 - - - - - - -
?/? c.681-47A>C r.(=) p.(=) g.114787031T>G Copied from the Exome Variant Server RASA3_000205 9220/13000 5441/8598 3779/4402 - - - - - - -
?/? c.681-37C>T r.(=) p.(=) g.114787021G>A Copied from the Exome Variant Server RASA3_000204 25/13004 13/8598 12/4406 - - - - - - -
?/? c.681-36G>A r.(=) p.(=) g.114787020C>T Copied from the Exome Variant Server RASA3_000203 1/13006 0/8600 1/4406 - - - - - - -
?/? c.681-34C>G r.(=) p.(=) g.114787018G>C Copied from the Exome Variant Server RASA3_000202 2/13006 2/8600 0/4406 - - - - - - -
?/? c.681-28C>G r.(=) p.(=) g.114787012G>C Copied from the Exome Variant Server RASA3_000201 12/13004 0/8600 12/4404 - - - - - - -
?/? c.703A>G r.(?) p.(Asn235Asp) g.114786962T>C Copied from the Exome Variant Server RASA3_000200 1/13006 1/8600 0/4406 - - - - - - -
?/? c.761G>A r.(?) p.(Arg254Gln) g.114786904C>T Copied from the Exome Variant Server RASA3_000199 2/13006 1/8600 1/4406 - - - - - - -
?/? c.774C>G r.(=) p.(=) g.114786891G>C Copied from the Exome Variant Server RASA3_000198 1/13006 1/8600 0/4406 - - - - - - -
?/? c.780G>A r.(=) p.(=) g.114786885C>T Copied from the Exome Variant Server RASA3_000197 8/13006 7/8600 1/4406 - - - - - - -
?/? c.785+43C>A r.(=) p.(=) g.114786837G>T Copied from the Exome Variant Server RASA3_000196 1/13004 1/8600 0/4404 - - - - - - -
?/? c.786-40G>A r.(=) p.(=) g.114784435C>T Copied from the Exome Variant Server RASA3_000195 2150/13006 1393/8600 757/4406 - - - - - - -
?/? c.786-5C>T r.spl? p.? g.114784400G>A Copied from the Exome Variant Server RASA3_000194 1/13006 1/8600 0/4406 - - - - - - -
?/? c.798G>A r.(=) p.(=) g.114784383C>T Copied from the Exome Variant Server RASA3_000193 1/13006 1/8600 0/4406 - - - - - - -
?/? c.803G>A r.(?) p.(Arg268Gln) g.114784378C>T Copied from the Exome Variant Server RASA3_000192 1/13006 1/8600 0/4406 - - - - - - -
?/? c.858C>T r.(=) p.(=) g.114784323G>A Copied from the Exome Variant Server RASA3_000191 1/13006 0/8600 1/4406 - - - - - - -
?/? c.862G>A r.(?) p.(Val288Ile) g.114784319C>T Copied from the Exome Variant Server RASA3_000190 1/13006 0/8600 1/4406 - - - - - - -
?/? c.869C>T r.(?) p.(Thr290Met) g.114784312G>A Copied from the Exome Variant Server RASA3_000189 1/13006 1/8600 0/4406 - - - - - - -
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