All transcript variants in gene RAPGEF1

Information The variants shown are described using the NM_005312.2 transcript reference sequence.

248 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     
?/? c.-50A>G r.(=) p.(=) g.134612851T>C Copied from the Exome Variant Server RAPGEF1_000248 1/6536 1/4330 0/2206
?/? c.-46C>T r.(=) p.(=) g.134612847G>A Copied from the Exome Variant Server RAPGEF1_000247 1/12282 0/8320 1/3962
?/? c.-13C>T r.(=) p.(=) g.134612814G>A Copied from the Exome Variant Server RAPGEF1_000246 12/12344 0/8328 12/4016
?/? c.-9C>T r.(=) p.(=) g.134612810G>A Copied from the Exome Variant Server RAPGEF1_000245 3/12386 3/8340 0/4046
?/? c.-8G>A r.(=) p.(=) g.134612809C>T Copied from the Exome Variant Server RAPGEF1_000244 1/12374 1/8334 0/4040
?/? c.10+6A>G r.(=) p.(=) g.134612786T>C Copied from the Exome Variant Server RAPGEF1_000242 2/12416 0/8364 2/4052
?/? c.10+8_10+9del r.(=) p.(=) g.134612783_134612784del Copied from the Exome Variant Server RAPGEF1_000240 7/11888 0/8010 7/3878
?/? c.10+12G>A r.(=) p.(=) g.134612780C>T Copied from the Exome Variant Server RAPGEF1_000238 1/12448 1/8378 0/4070
?/? c.10+24C>T r.(=) p.(=) g.134612768G>A Copied from the Exome Variant Server RAPGEF1_000243 2/12454 1/8382 1/4072
?/? c.10+50A>C r.(=) p.(=) g.134612742T>G Copied from the Exome Variant Server RAPGEF1_000241 1/12452 1/8390 0/4062
?/? c.10+57T>C r.(=) p.(=) g.134612735A>G Copied from the Exome Variant Server RAPGEF1_000239 1/4566 1/3182 0/1384
?/? c.10+93C>T r.(=) p.(=) g.134612699G>A Copied from the Exome Variant Server RAPGEF1_000237 1/4566 1/3182 0/1384
?/? c.10+27660C>T r.(=) p.(=) g.134585132G>A Copied from the Exome Variant Server RAPGEF1_000236 4/4566 4/3182 0/1384
?/? c.10+27674C>T r.(=) p.(=) g.134585118G>A Copied from the Exome Variant Server RAPGEF1_000235 1/12422 0/8374 1/4048
?/? c.10+27675G>A r.(=) p.(=) g.134585117C>T Copied from the Exome Variant Server RAPGEF1_000234 4/12418 0/8374 4/4044
?/? c.10+27708C>T r.(=) p.(=) g.134585084G>A Copied from the Exome Variant Server RAPGEF1_000233 1/12304 1/8344 0/3960
?/? c.10+27709C>T r.(=) p.(=) g.134585083G>A Copied from the Exome Variant Server RAPGEF1_000232 1/12296 0/8342 1/3954
?/? c.10+27729A>G r.(=) p.(=) g.134585063T>C Copied from the Exome Variant Server RAPGEF1_000231 1/12204 1/8300 0/3904
?/? c.10+27735T>C r.(=) p.(=) g.134585057A>G Copied from the Exome Variant Server RAPGEF1_000230 3/12190 3/8300 0/3890
?/? c.10+27762G>A r.(=) p.(=) g.134585030C>T Copied from the Exome Variant Server RAPGEF1_000229 1/12098 0/8272 1/3826
?/? c.10+27782del r.(=) p.(=) g.134585010del Copied from the Exome Variant Server RAPGEF1_000228 2/11568 1/7892 1/3676
?/? c.10+27800G>A r.(=) p.(=) g.134584992C>T Copied from the Exome Variant Server RAPGEF1_000227 1/12052 1/8242 0/3810
?/? c.10+27804_10+27805insT r.(=) p.(=) g.134584987_134584988insA Copied from the Exome Variant Server RAPGEF1_000226 38/11578 35/7894 3/3684
?/? c.10+27817G>T r.(=) p.(=) g.134584975C>A Copied from the Exome Variant Server RAPGEF1_000225 14/12054 12/8250 2/3804
?/? c.10+27844G>C r.(=) p.(=) g.134584948C>G Copied from the Exome Variant Server RAPGEF1_000224 1/4566 1/3182 0/1384
?/? c.11-15C>G r.(=) p.(=) g.134526351G>C Copied from the Exome Variant Server RAPGEF1_000223 2/12208 1/8308 1/3900
?/? c.72C>G r.(=) p.(=) g.134526275G>C Copied from the Exome Variant Server RAPGEF1_000222 2/12158 2/8304 0/3854
?/? c.96G>T r.(?) p.(Lys32Asn) g.134526251C>A Copied from the Exome Variant Server RAPGEF1_000221 1/12154 1/8282 0/3872
?/? c.120C>T r.(=) p.(=) g.134526227G>A Copied from the Exome Variant Server RAPGEF1_000220 2/12154 0/8260 2/3894
?/? c.137A>G r.(?) p.(Lys46Arg) g.134526210T>C Copied from the Exome Variant Server RAPGEF1_000219 1/12212 0/8284 1/3928
?/? c.257G>C r.(?) p.(Arg86Thr) g.134525523C>G Copied from the Exome Variant Server RAPGEF1_000218 1/12254 1/8334 0/3920
?/? c.264+23T>C r.(=) p.(=) g.134525493A>G Copied from the Exome Variant Server RAPGEF1_000217 1/12248 1/8340 0/3908
?/? c.273C>G r.(?) p.(Ser91Arg) g.134518796G>C Copied from the Exome Variant Server RAPGEF1_000216 1/11950 1/8216 0/3734
?/? c.289G>C r.(?) p.(Glu97Gln) g.134518780C>G Copied from the Exome Variant Server RAPGEF1_000215 1/12022 0/8240 1/3782
?/? c.443+19T>C r.(=) p.(=) g.134518607A>G Copied from the Exome Variant Server RAPGEF1_000214 193/12388 180/8370 13/4018
?/? c.443+51A>G r.(=) p.(=) g.134518575T>C Copied from the Exome Variant Server RAPGEF1_000213 1532/6716 1241/4402 291/2314
?/? c.444-20_444-19insC r.(=) p.(=) g.134514197_134514198insG Copied from the Exome Variant Server RAPGEF1_000212 1/11728 0/7970 1/3758
?/? c.459C>A r.(=) p.(=) g.134514163G>T Copied from the Exome Variant Server RAPGEF1_000211 1/12352 1/8360 0/3992
?/? c.551T>C r.(?) p.(Met184Thr) g.134514071A>G Copied from the Exome Variant Server RAPGEF1_000210 4/12718 0/8478 4/4240
?/? c.600+6G>A r.(=) p.(=) g.134514016C>T Copied from the Exome Variant Server RAPGEF1_000209 3/12614 0/8438 3/4176
?/? c.600+11A>G r.(=) p.(=) g.134514011T>C Copied from the Exome Variant Server RAPGEF1_000208 1208/12618 821/8434 387/4184
?/? c.600+48C>A r.(=) p.(=) g.134513974G>T Copied from the Exome Variant Server RAPGEF1_000207 4/12610 0/8446 4/4164
?/? c.601-46del r.(=) p.(=) g.134505757del Copied from the Exome Variant Server RAPGEF1_000206 5/12134 0/8102 5/4032
?/? c.606G>C r.(=) p.(=) g.134505706C>G Copied from the Exome Variant Server RAPGEF1_000205 1/12560 0/8406 1/4154
?/? c.614T>C r.(?) p.(Leu205Pro) g.134505698A>G Copied from the Exome Variant Server RAPGEF1_000204 1/12546 1/8396 0/4150
?/? c.621C>T r.(=) p.(=) g.134505691G>A Copied from the Exome Variant Server RAPGEF1_000203 1/12538 0/8392 1/4146
?/? c.634C>T r.(?) p.(Arg212Cys) g.134505678G>A Copied from the Exome Variant Server RAPGEF1_000202 2/12516 2/8372 0/4144
?/? c.635G>A r.(?) p.(Arg212His) g.134505677C>T Copied from the Exome Variant Server RAPGEF1_000201 24/12514 24/8374 0/4140
?/? c.689+13T>G r.(=) p.(=) g.134505610A>C Copied from the Exome Variant Server RAPGEF1_000200 1/12394 0/8322 1/4072
?/? c.689+27C>T r.(=) p.(=) g.134505596G>A Copied from the Exome Variant Server RAPGEF1_000199 1/12358 1/8314 0/4044
?/? c.689+30G>A r.(=) p.(=) g.134505593C>T Copied from the Exome Variant Server RAPGEF1_000198 11/12358 0/8316 11/4042
?/? c.689+37G>A r.(=) p.(=) g.134505586C>T Copied from the Exome Variant Server RAPGEF1_000197 1/12300 0/8304 1/3996
?/? c.700C>G r.(?) p.(Leu234Val) g.134504631G>C Copied from the Exome Variant Server RAPGEF1_000196 4/12318 4/8334 0/3984
?/? c.706C>A r.(?) p.(Leu236Met) g.134504625G>T Copied from the Exome Variant Server RAPGEF1_000195 1/12278 0/8324 1/3954
?/? c.715C>T r.(?) p.(Arg239Cys) g.134504616G>A Copied from the Exome Variant Server RAPGEF1_000194 1/12252 0/8310 1/3942
?/? c.717C>T r.(=) p.(=) g.134504614G>A Copied from the Exome Variant Server RAPGEF1_000193 1/12226 1/8300 0/3926
?/? c.730C>T r.(=) p.(=) g.134504601G>A Copied from the Exome Variant Server RAPGEF1_000192 1/12236 1/8296 0/3940
?/? c.783G>A r.(=) p.(=) g.134504548C>T Copied from the Exome Variant Server RAPGEF1_000191 34/12186 31/8270 3/3916
?/? c.795C>T r.(=) p.(=) g.134504536G>A Copied from the Exome Variant Server RAPGEF1_000190 1/12158 1/8262 0/3896
?/? c.798G>A r.(=) p.(=) g.134504533C>T Copied from the Exome Variant Server RAPGEF1_000189 19/12130 0/8250 19/3880
?/? c.842+31C>T r.(=) p.(=) g.134504458G>A Copied from the Exome Variant Server RAPGEF1_000188 8/12026 8/8228 0/3798
?/? c.842+46A>C r.(=) p.(=) g.134504443T>G Copied from the Exome Variant Server RAPGEF1_000187 37/12012 33/8230 4/3782
?/? c.843-43G>C r.(=) p.(=) g.134504102C>G Copied from the Exome Variant Server RAPGEF1_000186 1/12418 1/8358 0/4060
?/? c.843-12G>C r.(=) p.(=) g.134504071C>G Copied from the Exome Variant Server RAPGEF1_000185 1/12416 1/8360 0/4056
?/? c.873A>G r.(=) p.(=) g.134504029T>C Copied from the Exome Variant Server RAPGEF1_000184 1/12274 0/8308 1/3966
?/? c.879G>A r.(=) p.(=) g.134504023C>T Copied from the Exome Variant Server RAPGEF1_000183 6/12230 6/8306 0/3924
?/? c.881C>T r.(?) p.(Ala294Val) g.134504021G>A Copied from the Exome Variant Server RAPGEF1_000182 1/12228 0/8310 1/3918
?/? c.966+43_966+44insG r.(=) p.(=) g.134503892_134503893insC Copied from the Exome Variant Server RAPGEF1_000181 52/11390 29/7830 23/3560
?/? c.966+49G>A r.(=) p.(=) g.134503887C>T Copied from the Exome Variant Server RAPGEF1_000180 1/12002 1/8238 0/3764
?/? c.987C>T r.(=) p.(=) g.134503463G>A Copied from the Exome Variant Server RAPGEF1_000179 1/12556 1/8422 0/4134
?/? c.1032G>A r.(=) p.(=) g.134503418C>T Copied from the Exome Variant Server RAPGEF1_000178 3/12724 1/8480 2/4244
?/? c.1035G>A r.(=) p.(=) g.134503415C>T Copied from the Exome Variant Server RAPGEF1_000177 2/12750 2/8486 0/4264
?/? c.1040G>A r.(?) p.(Arg347His) g.134503410C>T Copied from the Exome Variant Server RAPGEF1_000176 2/12766 0/8488 2/4278
?/? c.1068G>A r.(=) p.(=) g.134503382C>T Copied from the Exome Variant Server RAPGEF1_000175 203/12834 3/8502 200/4332
?/? c.1069C>T r.(?) p.(Leu357Phe) g.134503381G>A Copied from the Exome Variant Server RAPGEF1_000174 2/12832 2/8502 0/4330
?/? c.1121G>A r.(?) p.(Cys374Tyr) g.134503329C>T Copied from the Exome Variant Server RAPGEF1_000173 1/12836 0/8530 1/4306
?/? c.1126C>T r.(?) p.(Arg376Trp) g.134503324G>A Copied from the Exome Variant Server RAPGEF1_000172 1/12832 1/8522 0/4310
?/? c.1127G>A r.(?) p.(Arg376Gln) g.134503323C>T Copied from the Exome Variant Server RAPGEF1_000171 13/12824 13/8518 0/4306
?/? c.1150+8G>A r.(=) p.(=) g.134503292C>T Copied from the Exome Variant Server RAPGEF1_000170 1/12826 1/8512 0/4314
?/? c.1151-31C>T r.(=) p.(=) g.134501840G>A Copied from the Exome Variant Server RAPGEF1_000169 1/12076 1/8242 0/3834
?/? c.1151-8A>G r.(=) p.(=) g.134501817T>C Copied from the Exome Variant Server RAPGEF1_000168 1/12172 1/8284 0/3888
?/? c.1157A>G r.(?) p.(Tyr386Cys) g.134501803T>C Copied from the Exome Variant Server RAPGEF1_000167 1/12194 1/8294 0/3900
?/? c.1197C>T r.(=) p.(=) g.134501763G>A Copied from the Exome Variant Server RAPGEF1_000166 5/12172 5/8298 0/3874
?/? c.1220C>T r.(?) p.(Thr407Met) g.134501740G>A Copied from the Exome Variant Server RAPGEF1_000165 2/12150 2/8282 0/3868
?/? c.1230C>T r.(=) p.(=) g.134501730G>A Copied from the Exome Variant Server RAPGEF1_000164 1/12160 1/8278 0/3882
?/? c.1233_1234insCTT r.(?) p.(Leu411dup) g.134501726_134501727insAAG Copied from the Exome Variant Server RAPGEF1_000163 1/11656 1/7920 0/3736
?/? c.1234A>T r.(?) p.(Ser412Cys) g.134501726T>A Copied from the Exome Variant Server RAPGEF1_000162 2/12148 2/8274 0/3874
?/? c.1238C>T r.(?) p.(Pro413Leu) g.134501722G>A Copied from the Exome Variant Server RAPGEF1_000161 1/12132 1/8266 0/3866
?/? c.1239G>A r.(=) p.(=) g.134501721C>T Copied from the Exome Variant Server RAPGEF1_000160 5/12130 5/8268 0/3862
?/? c.1255G>A r.(?) p.(Gly419Arg) g.134501705C>T Copied from the Exome Variant Server RAPGEF1_000159 1/12132 1/8270 0/3862
?/? c.1272A>C r.(=) p.(=) g.134501688T>G Copied from the Exome Variant Server RAPGEF1_000158 8/12142 0/8268 8/3874
?/? c.1279G>A r.(?) p.(Gly427Ser) g.134501681C>T Copied from the Exome Variant Server RAPGEF1_000157 1/12148 0/8268 1/3880
?/? c.1309C>T r.(?) p.(His437Tyr) g.134501651G>A Copied from the Exome Variant Server RAPGEF1_000156 18/12208 17/8288 1/3920
?/? c.1323C>T r.(=) p.(=) g.134501637G>A Copied from the Exome Variant Server RAPGEF1_000155 2/12216 2/8284 0/3932
?/? c.1347G>A r.(=) p.(=) g.134501613C>T Copied from the Exome Variant Server RAPGEF1_000154 274/12332 260/8318 14/4014
?/? c.1356G>A r.(=) p.(=) g.134501604C>T Copied from the Exome Variant Server RAPGEF1_000153 1/12382 1/8332 0/4050
?/? c.1372G>A r.(?) p.(Glu458Lys) g.134501588C>T Copied from the Exome Variant Server RAPGEF1_000152 1/12406 1/8342 0/4064
?/? c.1382G>A r.(?) p.(Arg461His) g.134501578C>T Copied from the Exome Variant Server RAPGEF1_000151 1/12448 1/8358 0/4090
?/? c.1407G>A r.(=) p.(=) g.134501553C>T Copied from the Exome Variant Server RAPGEF1_000150 1/12506 1/8390 0/4116
?/? c.1438C>T r.(?) p.(Arg480Trp) g.134501522G>A Copied from the Exome Variant Server RAPGEF1_000149 1/12562 1/8414 0/4148
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