Full data view for gene PPP2R3B

Information The variants shown are described using the NM_013239.4 transcript reference sequence.

281 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.86A>C r.(?) p.(Gln29Pro) g.347341T>G Copied from the Exome Variant Server PPP2R3B_000281 1/11356 1/7812 0/3544 - - - - - - -
?/? c.88C>T r.(?) p.(Arg30Trp) g.347339G>A Copied from the Exome Variant Server PPP2R3B_000280 1/11366 1/7818 0/3548 - - - - - - -
?/? c.199del r.(?) p.(Arg67Glyfs*42) g.347228del Copied from the Exome Variant Server PPP2R3B_000279 19/4216 13/2928 6/1288 - - - - - - -
?/? c.211C>T r.(?) p.(Leu71Phe) g.347216G>A Copied from the Exome Variant Server PPP2R3B_000278 88/8710 1/6032 87/2678 - - - - - - -
?/? c.262G>A r.(?) p.(Ala88Thr) g.347165C>T Copied from the Exome Variant Server PPP2R3B_000277 1/11828 0/8116 1/3712 - - - - - - -
?/? c.264C>T r.(=) p.(=) g.347163G>A Copied from the Exome Variant Server PPP2R3B_000276 2/11836 0/8122 2/3714 - - - - - - -
?/? c.269G>T r.(?) p.(Ser90Ile) g.347158C>A Copied from the Exome Variant Server PPP2R3B_000275 1/11866 0/8138 1/3728 - - - - - - -
?/? c.280G>T r.(?) p.(Ala94Ser) g.347147C>A Copied from the Exome Variant Server PPP2R3B_000274 28/11930 1/8166 27/3764 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.347139G>A Copied from the Exome Variant Server PPP2R3B_000273 3/12002 0/8194 3/3808 - - - - - - -
?/? c.324+20_324+22del r.(=) p.(=) g.347081_347083del Copied from the Exome Variant Server PPP2R3B_000272 4/12178 4/8106 0/4072 - - - - - - -
?/? c.324+39G>T r.(=) p.(=) g.347064C>A Copied from the Exome Variant Server PPP2R3B_000271 4/12720 4/8472 0/4248 - - - - - - -
?/? c.324+50A>T r.(=) p.(=) g.347053T>A Copied from the Exome Variant Server PPP2R3B_000270 5/12720 0/8470 5/4250 - - - - - - -
?/? c.325-48G>A r.(=) p.(=) g.322373C>T Copied from the Exome Variant Server PPP2R3B_000269 37/12564 0/8404 37/4160 - - - - - - -
?/? c.325-45C>T r.(=) p.(=) g.322370G>A Copied from the Exome Variant Server PPP2R3B_000268 2/12562 1/8412 1/4150 - - - - - - -
?/? c.325-21C>T r.(=) p.(=) g.322346G>A Copied from the Exome Variant Server PPP2R3B_000267 15/12546 14/8412 1/4134 - - - - - - -
?/? c.325-20G>T r.(=) p.(=) g.322345C>A Copied from the Exome Variant Server PPP2R3B_000266 49/12548 40/8412 9/4136 - - - - - - -
?/? c.325-14_325-13insT r.(=) p.(=) g.322338_322339insA Copied from the Exome Variant Server PPP2R3B_000265 1/12014 1/8044 0/3970 - - - - - - -
?/? c.325-10G>A r.(=) p.(=) g.322335C>T Copied from the Exome Variant Server PPP2R3B_000264 1020/12540 580/8404 440/4136 - - - - - - -
?/? c.356C>T r.(?) p.(Pro119Leu) g.322294G>A Copied from the Exome Variant Server PPP2R3B_000263 6/12608 0/8416 6/4192 - - - - - - -
?/? c.357G>A r.(=) p.(=) g.322293C>T Copied from the Exome Variant Server PPP2R3B_000262 1/12622 0/8426 1/4196 - - - - - - -
?/? c.378G>A r.(=) p.(=) g.322272C>T Copied from the Exome Variant Server PPP2R3B_000261 2/12748 1/8480 1/4268 - - - - - - -
?/? c.386A>C r.(?) p.(Tyr129Ser) g.322264T>G Copied from the Exome Variant Server PPP2R3B_000260 6/12780 0/8504 6/4276 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.322257G>A Copied from the Exome Variant Server PPP2R3B_000259 3846/12786 2983/8506 863/4280 - - - - - - -
?/? c.400C>T r.(?) p.(Arg134Cys) g.322250G>A Copied from the Exome Variant Server PPP2R3B_000258 1/12832 1/8524 0/4308 - - - - - - -
?/? c.401G>A r.(?) p.(Arg134His) g.322249C>T Copied from the Exome Variant Server PPP2R3B_000257 1/12832 1/8522 0/4310 - - - - - - -
?/? c.402C>A r.(=) p.(=) g.322248G>T Copied from the Exome Variant Server PPP2R3B_000256 4/12832 0/8522 4/4310 - - - - - - -
?/? c.405G>A r.(=) p.(=) g.322245C>T Copied from the Exome Variant Server PPP2R3B_000255 1/12846 1/8522 0/4324 - - - - - - -
?/? c.436A>G r.(?) p.(Ser146Gly) g.322214T>C Copied from the Exome Variant Server PPP2R3B_000254 10/12896 0/8538 10/4358 - - - - - - -
?/? c.457G>A r.(?) p.(Ala153Thr) g.322193C>T Copied from the Exome Variant Server PPP2R3B_000253 1054/12872 591/8512 463/4360 - - - - - - -
?/? c.460C>T r.(?) p.(Arg154Trp) g.322190G>A Copied from the Exome Variant Server PPP2R3B_000252 1/12876 1/8518 0/4358 - - - - - - -
?/? c.461G>A r.(?) p.(Arg154Gln) g.322189C>T Copied from the Exome Variant Server PPP2R3B_000251 1/12880 0/8522 1/4358 - - - - - - -
?/? c.489T>C r.(=) p.(=) g.322161A>G Copied from the Exome Variant Server PPP2R3B_000250 8056/12886 5071/8518 2985/4368 - - - - - - -
?/? c.510+5G>A r.spl? p.? g.322135C>T Copied from the Exome Variant Server PPP2R3B_000249 34/12916 29/8532 5/4384 - - - - - - -
?/? c.510+14G>A r.(=) p.(=) g.322126C>T Copied from the Exome Variant Server PPP2R3B_000248 151/12920 1/8538 150/4382 - - - - - - -
?/? c.510+20C>T r.(=) p.(=) g.322120G>A Copied from the Exome Variant Server PPP2R3B_000247 2/12942 2/8554 0/4388 - - - - - - -
?/? c.510+31C>T r.(=) p.(=) g.322109G>A Copied from the Exome Variant Server PPP2R3B_000246 1/12938 0/8550 1/4388 - - - - - - -
?/? c.510+34G>A r.(=) p.(=) g.322106C>T Copied from the Exome Variant Server PPP2R3B_000245 1/12942 1/8550 0/4392 - - - - - - -
?/? c.510+44C>T r.(=) p.(=) g.322096G>A Copied from the Exome Variant Server PPP2R3B_000244 148/12936 0/8550 148/4386 - - - - - - -
?/? c.510+1516C>G r.(=) p.(=) g.320624G>C Copied from the Exome Variant Server PPP2R3B_000243 29/5734 0/3982 29/1752 - - - - - - -
?/? c.510+1519G>A r.(=) p.(=) g.320621C>T Copied from the Exome Variant Server PPP2R3B_000242 1/5734 1/3982 0/1752 - - - - - - -
?/? c.510+1559C>T r.(=) p.(=) g.320581G>A Copied from the Exome Variant Server PPP2R3B_000241 81/5734 1/3982 80/1752 - - - - - - -
?/? c.510+1560A>G r.(=) p.(=) g.320580T>C Copied from the Exome Variant Server PPP2R3B_000240 4148/5734 2684/3982 1464/1752 - - - - - - -
?/? c.511-50G>A r.(=) p.(=) g.308478C>T Copied from the Exome Variant Server PPP2R3B_000239 1/11022 1/7384 0/3638 - - - - - - -
?/? c.511-47G>A r.(=) p.(=) g.308475C>T Copied from the Exome Variant Server PPP2R3B_000238 2/11082 1/7456 1/3626 - - - - - - -
?/? c.511-14C>T r.(=) p.(=) g.308442G>A Copied from the Exome Variant Server PPP2R3B_000237 1/11604 1/7824 0/3780 - - - - - - -
?/? c.525C>T r.(=) p.(=) g.308414G>A Copied from the Exome Variant Server PPP2R3B_000236 16/11878 12/8020 4/3858 - - - - - - -
?/? c.546C>T r.(=) p.(=) g.308393G>A Copied from the Exome Variant Server PPP2R3B_000235 1/11968 0/8086 1/3882 - - - - - - -
?/? c.556G>A r.(?) p.(Ala186Thr) g.308383C>T Copied from the Exome Variant Server PPP2R3B_000234 6/12038 4/8130 2/3908 - - - - - - -
?/? c.558C>T r.(=) p.(=) g.308381G>A Copied from the Exome Variant Server PPP2R3B_000233 1/12042 1/8144 0/3898 - - - - - - -
?/? c.585C>T r.(=) p.(=) g.308354G>A Copied from the Exome Variant Server PPP2R3B_000232 36/12266 2/8232 34/4034 - - - - - - -
?/? c.586G>A r.(?) p.(Val196Ile) g.308353C>T Copied from the Exome Variant Server PPP2R3B_000231 3/12262 2/8234 1/4028 - - - - - - -
?/? c.601G>T r.(?) p.(Ala201Ser) g.308338C>A Copied from the Exome Variant Server PPP2R3B_000230 1/12312 0/8274 1/4038 - - - - - - -
?/? c.614+46G>A r.(=) p.(=) g.308279C>T Copied from the Exome Variant Server PPP2R3B_000229 1/12172 0/8168 1/4004 - - - - - - -
?/? c.615-49G>A r.(=) p.(=) g.308120C>T Copied from the Exome Variant Server PPP2R3B_000228 1/12436 1/8366 0/4070 - - - - - - -
?/? c.615-46A>T r.(=) p.(=) g.308117T>A Copied from the Exome Variant Server PPP2R3B_000227 636/12442 48/8366 588/4076 - - - - - - -
?/? c.615-37C>A r.(=) p.(=) g.308108G>T Copied from the Exome Variant Server PPP2R3B_000226 1/12420 0/8360 1/4060 - - - - - - -
?/? c.636C>T r.(=) p.(=) g.308050G>A Copied from the Exome Variant Server PPP2R3B_000225 1/12554 0/8380 1/4174 - - - - - - -
?/? c.639C>T r.(=) p.(=) g.308047G>A Copied from the Exome Variant Server PPP2R3B_000224 1/12568 1/8384 0/4184 - - - - - - -
?/? c.644C>T r.(?) p.(Ala215Val) g.308042G>A Copied from the Exome Variant Server PPP2R3B_000223 1/12592 1/8390 0/4202 - - - - - - -
?/? c.652G>A r.(?) p.(Val218Ile) g.308034C>T Copied from the Exome Variant Server PPP2R3B_000222 1/12600 1/8388 0/4212 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.308014G>A Copied from the Exome Variant Server PPP2R3B_000221 2/12592 2/8384 0/4208 - - - - - - -
?/? c.708C>G r.(=) p.(=) g.307978G>C Copied from the Exome Variant Server PPP2R3B_000220 3/12546 3/8366 0/4180 - - - - - - -
?/? c.712T>C r.(=) p.(=) g.307974A>G Copied from the Exome Variant Server PPP2R3B_000219 1/12512 1/8352 0/4160 - - - - - - -
?/? c.717G>C r.(?) p.(Gln239His) g.307969C>G Copied from the Exome Variant Server PPP2R3B_000218 2/12506 1/8350 1/4156 - - - - - - -
?/? c.717+13G>A r.(=) p.(=) g.307956C>T Copied from the Exome Variant Server PPP2R3B_000217 1/12462 1/8332 0/4130 - - - - - - -
?/? c.717+39C>T r.(=) p.(=) g.307930G>A Copied from the Exome Variant Server PPP2R3B_000216 309/12262 3/8276 306/3986 - - - - - - -
?/? c.717+46G>A r.(=) p.(=) g.307923C>T Copied from the Exome Variant Server PPP2R3B_000215 1/12232 0/8244 1/3988 - - - - - - -
?/? c.717+49C>G r.(=) p.(=) g.307920G>C Copied from the Exome Variant Server PPP2R3B_000214 8666/12160 6345/8204 2321/3956 - - - - - - -
?/? c.717+51C>T r.(=) p.(=) g.307918G>A Copied from the Exome Variant Server PPP2R3B_000213 7/12138 0/8194 7/3944 - - - - - - -
?/? c.717+52G>A r.(=) p.(=) g.307917C>T Copied from the Exome Variant Server PPP2R3B_000212 1/5702 1/3950 0/1752 - - - - - - -
?/? c.718-39G>A r.(=) p.(=) g.307549C>T Copied from the Exome Variant Server PPP2R3B_000211 91/12710 0/8446 91/4264 - - - - - - -
?/? c.758A>C r.(?) p.(Glu253Ala) g.307470T>G Copied from the Exome Variant Server PPP2R3B_000210 1/12582 0/8426 1/4156 - - - - - - -
?/? c.792+20G>A r.(=) p.(=) g.307416C>T Copied from the Exome Variant Server PPP2R3B_000209 29/12236 0/8296 29/3940 - - - - - - -
?/? c.792+25C>T r.(=) p.(=) g.307411G>A Copied from the Exome Variant Server PPP2R3B_000208 4048/12132 3244/8250 804/3882 - - - - - - -
?/? c.792+49T>A r.(=) p.(=) g.307387A>T Copied from the Exome Variant Server PPP2R3B_000207 31/11762 29/8088 2/3674 - - - - - - -
?/? c.792+59G>A r.(=) p.(=) g.307377C>T Copied from the Exome Variant Server PPP2R3B_000206 3308/4558 2513/3176 795/1382 - - - - - - -
?/? c.793-33T>C r.(=) p.(=) g.307028A>G Copied from the Exome Variant Server PPP2R3B_000205 95/11716 1/7996 94/3720 - - - - - - -
?/? c.867C>T r.(=) p.(=) g.306921G>A Copied from the Exome Variant Server PPP2R3B_000204 1/12104 0/8222 1/3882 - - - - - - -
?/? c.879+5G>C r.spl? p.? g.306904C>G Copied from the Exome Variant Server PPP2R3B_000203 2/11976 2/8160 0/3816 - - - - - - -
?/? c.879+34_879+35insCCCTGCC r.(=) p.(=) g.306874_306875insGGCAGGG Copied from the Exome Variant Server PPP2R3B_000202 49/10902 5/7512 44/3390 - - - - - - -
?/? c.879+50C>T r.(=) p.(=) g.306859G>A Copied from the Exome Variant Server PPP2R3B_000201 6/11166 6/7722 0/3444 - - - - - - -
?/? c.880-46A>G r.(=) p.(=) g.306453T>C Copied from the Exome Variant Server PPP2R3B_000200 1/12126 1/8220 0/3906 - - - - - - -
?/? c.880-38A>C r.(=) p.(=) g.306445T>G Copied from the Exome Variant Server PPP2R3B_000199 1/12196 1/8236 0/3960 - - - - - - -
?/? c.880-6T>C r.(=) p.(=) g.306413A>G Copied from the Exome Variant Server PPP2R3B_000198 2/12560 2/8390 0/4170 - - - - - - -
?/? c.906G>A r.(=) p.(=) g.306381C>T Copied from the Exome Variant Server PPP2R3B_000197 274/12816 3/8498 271/4318 - - - - - - -
?/? c.936G>A r.(=) p.(=) g.306351C>T Copied from the Exome Variant Server PPP2R3B_000196 1/12818 0/8512 1/4306 - - - - - - -
?/? c.950A>G r.(?) p.(Tyr317Cys) g.306337T>C Copied from the Exome Variant Server PPP2R3B_000195 1/12812 1/8504 0/4308 - - - - - - -
?/? c.1005C>G r.(?) p.(Asp335Glu) g.306282G>C Copied from the Exome Variant Server PPP2R3B_000194 2/12644 2/8402 0/4242 - - - - - - -
?/? c.1019C>T r.(?) p.(Ala340Val) g.306268G>A Copied from the Exome Variant Server PPP2R3B_000193 2/12530 0/8338 2/4192 - - - - - - -
?/? c.1020G>A r.(=) p.(=) g.306267C>T Copied from the Exome Variant Server PPP2R3B_000192 809/12498 6/8326 803/4172 - - - - - - -
?/? c.1027A>C r.(?) p.(Asn343His) g.306260T>G Copied from the Exome Variant Server PPP2R3B_000191 2/12470 1/8318 1/4152 - - - - - - -
?/? c.1036+20C>T r.(=) p.(=) g.306231G>A Copied from the Exome Variant Server PPP2R3B_000190 1/12286 1/8248 0/4038 - - - - - - -
?/? c.1036+29C>T r.(=) p.(=) g.306222G>A Copied from the Exome Variant Server PPP2R3B_000189 2/12358 2/8274 0/4084 - - - - - - -
?/? c.1036+32G>A r.(=) p.(=) g.306219C>T Copied from the Exome Variant Server PPP2R3B_000188 11/12390 0/8284 11/4106 - - - - - - -
?/? c.1036+37C>G r.(=) p.(=) g.306214G>C Copied from the Exome Variant Server PPP2R3B_000187 782/12456 5/8308 777/4148 - - - - - - -
?/? c.1037-77C>T r.(=) p.(=) g.302743G>A Copied from the Exome Variant Server PPP2R3B_000186 1890/4566 1579/3182 311/1384 - - - - - - -
?/? c.1037-65C>T r.(=) p.(=) g.302731G>A Copied from the Exome Variant Server PPP2R3B_000185 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1037-59_1037-58insG r.(=) p.(=) g.302724_302725insC Copied from the Exome Variant Server PPP2R3B_000184 29/11544 24/7868 5/3676 - - - - - - -
?/? c.1037-30G>A r.(=) p.(=) g.302696C>T Copied from the Exome Variant Server PPP2R3B_000183 1/12416 1/8320 0/4096 - - - - - - -
?/? c.1037-17A>G r.(=) p.(=) g.302683T>C Copied from the Exome Variant Server PPP2R3B_000182 5/12490 5/8348 0/4142 - - - - - - -
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