Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-56777424-C-G p.Val371Leu missense ACTBL2 2 82506 2.42407E-5 41253 0 5.00192E-5
5-56777425-G-A p.Ile370Ile synonymous ACTBL2 3 82574 3.63311E-5 41287 0 3.32546E-5
5-56777427-T-C p.Ile370Val missense ACTBL2 1 82634 1.21016E-5 41317 0 NA
5-56777430-G-A p.Pro369Ser missense ACTBL2 2 82680 2.41896E-5 41340 1 8.28926E-6
5-56777442-C-T p.Glu365Lys missense ACTBL2 1 82782 1.20799E-5 41391 0 4.13093E-5
5-56777446-A-T p.Tyr363* stop_gained ACTBL2 1 82812 1.20755E-5 41406 0 3.18451E-5
5-56777449-T-C p.Glu362Glu synonymous ACTBL2 1 82840 1.20715E-5 41420 0 1.99137E-5
5-56777452-C-CTTTTTCTT p.Glu362fs frameshift ACTBL2 1 82848 1.20703E-5 41424 0 NA
5-56777454-G-GC p.Gln361fs frameshift ACTBL2 1 82820 1.20744E-5 41410 0 NA
5-56777456-T-TA p.Lys360fs frameshift ACTBL2 1 82834 1.20723E-5 41417 0 NA
5-56777459-C-T p.Ser359Asn missense ACTBL2 1 82840 1.20715E-5 41420 0 NA
5-56777467-C-T p.Met356Ile missense ACTBL2 1 82880 1.20656E-5 41440 0 NA
5-56777467-C-A p.Met356Ile missense ACTBL2 1 82880 1.20656E-5 41440 0 NA
5-56777469-T-A p.Met356Leu missense ACTBL2 2 82884 2.41301E-5 41442 0 NA
5-56777473-C-A p.Gln354His missense ACTBL2 2 82912 2.4122E-5 41456 0 NA
5-56777481-T-C p.Thr352Ala missense ACTBL2 90 82964 0.00108481 41482 0 0.00210191
5-56777497-G-A p.Ile346Ile synonymous ACTBL2 1 83042 1.20421E-5 41521 0 NA
5-56777498-A-T p.Ile346Asn missense ACTBL2 2 83056 2.40801E-5 41528 0 3.29538E-5
5-56777503-G-T p.Gly344Gly synonymous ACTBL2 1 83052 1.20406E-5 41526 0 3.98023E-6
5-56777507-C-T p.Gly343Glu missense ACTBL2 1 83070 1.2038E-5 41535 0 3.18408E-5
5-56777508-C-T p.Gly343Arg missense ACTBL2 15 83078 1.80553E-4 41539 0 4.45803E-4
5-56777515-AAC-A p.Val340fs frameshift ACTBL2 2 83098 2.4068E-5 41549 0 3.18512E-5
5-56777519-G-T p.Ser339Tyr missense ACTBL2 1 83114 1.20317E-5 41557 0 1.59237E-5
5-56777519-GA-G p.Ser339fs frameshift ACTBL2 2 83114 2.40633E-5 41557 0 3.18471E-5
5-56777524-C-A p.Lys337Asn missense ACTBL2 1 83124 1.20302E-5 41562 0 3.97975E-6
5-56777527-C-T p.Arg336Arg synonymous ACTBL2 1 83116 1.20314E-5 41558 0 NA
5-56777528-C-T p.Arg336Gln missense ACTBL2 5 83124 6.01511E-5 41562 0 5.03525E-4
5-56777563-G-T p.Ser324Arg missense ACTBL2 1 83222 1.20161E-5 41611 0 NA
5-56777582-A-G p.Ile318Thr missense ACTBL2 1 83184 1.20215E-5 41592 0 NA
5-56777588-T-G p.Lys316Thr missense ACTBL2 4 83168 4.80954E-5 41584 0 8.23845E-6
5-56777597-C-G p.Arg313Thr missense ACTBL2 2 83156 2.40512E-5 41578 0 3.18593E-5
5-56777599-G-C p.Asp312Glu missense ACTBL2 2 83148 2.40535E-5 41574 0 3.98051E-6
5-56777604-CA-C p.Ile310fs frameshift ACTBL2 1 83134 1.20288E-5 41567 0 1.19416E-5
5-56777618-A-C p.Met306Arg missense ACTBL2 3 83098 3.6102E-5 41549 0 NA
5-56777618-A-G p.Met306Thr missense ACTBL2 1 83098 1.2034E-5 41549 0 3.98042E-6
5-56777619-T-G p.Met306Leu missense ACTBL2 1 83096 1.20343E-5 41548 0 NA
5-56777620-G-T p.Thr305Thr synonymous ACTBL2 1 83090 1.20351E-5 41545 0 1.31369E-4
5-56777628-C-G p.Gly303Arg missense ACTBL2 1 83058 1.20398E-5 41529 0 NA
5-56777630-C-T p.Gly302Glu missense ACTBL2 1 83048 1.20412E-5 41524 0 NA
5-56777634-A-G p.Ser301Pro missense ACTBL2 1 83030 1.20438E-5 41515 0 8.23805E-6
5-56777634-A-T p.Ser301Thr missense ACTBL2 1 83030 1.20438E-5 41515 0 3.98051E-6
5-56777640-C-T p.Val299Met missense ACTBL2 4 82988 4.81997E-5 41494 0 3.98099E-6
5-56777641-G-T p.Thr298Thr synonymous ACTBL2 2 82982 2.41016E-5 41491 0 1.59241E-4
5-56777642-G-A p.Thr298Ile missense ACTBL2 1 82976 1.20517E-5 41488 0 NA
5-56777648-G-A p.Ala296Val missense ACTBL2 2 82936 2.4115E-5 41468 0 1.19428E-5
5-56777663-C-G p.Arg291Pro missense ACTBL2 1 82850 1.207E-5 41425 0 5.03525E-4
5-56777663-C-A p.Arg291Leu missense ACTBL2 1 82850 1.207E-5 41425 0 NA
5-56777664-G-A p.Arg291Cys missense ACTBL2 1 82836 1.2072E-5 41418 0 7.96457E-6
5-56777676-C-A p.Asp287Tyr missense ACTBL2 3 82770 3.6245E-5 41385 0 3.50252E-4
5-56777676-C-T p.Asp287Asn missense ACTBL2 1 82768 1.2082E-5 41384 0 3.98308E-6
5-56777677-G-A p.Cys286Cys synonymous ACTBL2 5104 82640 0.0617619 41320 233 0.10125
5-56777677-G-T p.Cys286* stop_gained ACTBL2 1 82736 1.20866E-5 41368 0 8.23873E-6
5-56777684-A-G p.Met284Thr missense ACTBL2 10 82738 1.20863E-4 41369 0 5.03525E-4
5-56777692-G-A p.Asn281Asn synonymous ACTBL2 3 82670 3.62889E-5 41335 0 4.11963E-5
5-56777694-T-G p.Asn281His missense ACTBL2 3 82674 3.62871E-5 41337 0 9.55353E-5
5-56777698-G-A p.Thr279Thr synonymous ACTBL2 1 82664 1.20972E-5 41332 0 NA
5-56777702-G-C p.Thr278Arg missense ACTBL2 2 82636 2.42025E-5 41318 0 NA
5-56777704-CTC-TTT p.Glu277Lys missense ACTBL2 6 82630 7.26128E-5 41315 0 NA
5-56777704-C-T p.Glu277Glu synonymous ACTBL2 1 82630 1.21021E-5 41315 0 6.37105E-5
5-56777706-C-T p.Glu277Lys missense ACTBL2 14 82622 1.69446E-4 41311 0 8.08907E-4
5-56777707-A-T p.His276Gln missense ACTBL2 1 82606 1.21057E-5 41303 0 NA
5-56777715-C-T p.Gly274Arg missense ACTBL2 10 82598 1.21068E-4 41299 0 3.18593E-5
5-56777725-A-G p.Ile270Ile synonymous ACTBL2 1 82590 1.2108E-5 41295 0 NA
5-56777727-T-C p.Ile270Val missense ACTBL2 1 82596 1.21071E-5 41298 0 3.18532E-5
5-56777729-C-T p.Gly269Asp missense ACTBL2 2 82580 2.42189E-5 41290 0 6.37146E-5
5-56777742-G-C p.Pro265Ala missense ACTBL2 1 82608 1.21054E-5 41304 0 4.78202E-5
5-56777745-G-T p.Gln264Lys missense ACTBL2 1 82608 1.21054E-5 41304 0 7.9701E-6
5-56777746-G-GA p.Gln264fs frameshift ACTBL2 1 82616 1.21042E-5 41308 0 8.24049E-6
5-56777755-T-C p.Glu260Glu synonymous ACTBL2 1 82612 1.21048E-5 41306 0 NA
5-56777757-C-CA p.Glu260fs frameshift ACTBL2 1 82596 1.21071E-5 41298 0 1.59427E-5
5-56777763-A-C p.Cys258Gly missense ACTBL2 3 82578 3.63293E-5 41289 0 1.64829E-5
5-56777765-C-T p.Arg257Gln missense ACTBL2 1 82586 1.21086E-5 41293 0 NA
5-56777770-G-A p.Arg255Arg synonymous ACTBL2 1 82616 1.21042E-5 41308 0 NA
5-56777771-C-G p.Arg255Pro missense ACTBL2 1 82600 1.21065E-5 41300 0 8.24185E-6
5-56777772-G-A p.Arg255Cys missense ACTBL2 2 82620 2.42072E-5 41310 0 1.71357E-4
5-56777772-G-C p.Arg255Gly missense ACTBL2 3 82620 3.63108E-5 41310 0 2.4728E-5
5-56777776-A-G p.Asn253Asn synonymous ACTBL2 1 82644 1.21001E-5 41322 0 NA
5-56777784-T-G p.Ile251Leu missense ACTBL2 1 82660 1.20978E-5 41330 0 NA
5-56777784-T-A p.Ile251Phe missense ACTBL2 1 82660 1.20978E-5 41330 0 NA
5-56777789-A-G p.Ile249Thr missense ACTBL2 1 82642 1.21004E-5 41321 0 8.24158E-6
5-56777800-A-G p.Asp245Asp synonymous ACTBL2 1 82674 1.20957E-5 41337 0 2.47202E-5
5-56777803-A-G p.Pro244Pro synonymous ACTBL2 2 82684 2.41885E-5 41342 0 1.64804E-5
5-56777813-T-G p.Tyr241Ser missense ACTBL2 2 82656 2.41967E-5 41328 0 7.96914E-6
5-56777820-G-T p.Arg239Arg synonymous ACTBL2 4 82638 4.84039E-5 41319 0 NA
5-56777823-C-G p.Glu238Gln missense ACTBL2 1 82636 1.21013E-5 41318 0 3.18492E-5
5-56777825-G-A p.Pro237Leu missense ACTBL2 1 82614 1.21045E-5 41307 0 2.39086E-5
5-56777838-C-T p.Ala233Thr missense ACTBL2 2 82594 2.42148E-5 41297 0 3.18817E-5
5-56777839-G-A p.Ala232Ala synonymous ACTBL2 54 82582 6.53896E-4 41291 0 0.00266952
5-56777846-C-T p.Arg230Lys missense ACTBL2 1 82576 1.21101E-5 41288 0 1.64775E-5
5-56777875-T-C p.Val220Val synonymous ACTBL2 1 82504 1.21206E-5 41252 0 7.96553E-6
5-56777878-G-A p.Tyr219Tyr synonymous ACTBL2 88 82452 0.00106729 41226 0 0.001875
5-56777878-G-C p.Tyr219* stop_gained ACTBL2 5 82456 6.06384E-5 41228 0 1.27389E-4
5-56777879-T-C p.Tyr219Cys missense ACTBL2 1 82466 1.21262E-5 41233 0 NA
5-56777891-T-C p.Glu215Gly missense ACTBL2 3 82520 3.63548E-5 41260 0 1.64769E-5
5-56777892-C-G p.Glu215Gln missense ACTBL2 5 82508 6.06002E-5 41254 0 0.00100705
5-56777908-A-G p.Ile209Ile synonymous ACTBL2 1 82416 1.21336E-5 41208 0 7.96553E-6
5-56777909-AT-A p.Ile209fs frameshift ACTBL2 1 82432 1.21312E-5 41216 0 3.18695E-5
5-56777911-C-A p.Glu208Asp missense ACTBL2 2 82454 2.42559E-5 41227 0 3.58457E-5
5-56777915-C-T p.Arg207Gln missense ACTBL2 230 82460 0.00278923 41230 0 0.011875
5-56777916-G-A p.Arg207Trp missense ACTBL2 105 82432 0.00127378 41216 1 0.00261313
5-56777938-A-G p.Tyr199Tyr synonymous ACTBL2 1 82570 1.21109E-5 41285 0 9.88777E-5
5-56777942-C-G p.Gly198Ala missense ACTBL2 1 82584 1.21089E-5 41292 0 7.96597E-6
5-56777945-C-T p.Arg197Gln missense ACTBL2 104 82604 0.00125902 41302 1 0.0026133
5-56777947-C-T p.Glu196Glu synonymous ACTBL2 1 82640 1.21007E-5 41320 0 6.37349E-5
5-56777962-C-A p.Met191Ile missense ACTBL2 2 82652 2.41978E-5 41326 1 8.24171E-6
5-56777963-A-G p.Met191Thr missense ACTBL2 1 82644 1.21001E-5 41322 0 3.18776E-5
5-56777975-G-GTCAGGTC p.Thr187fs frameshift ACTBL2 1 82644 1.21001E-5 41322 0 NA
5-56777977-C-T p.Leu186Leu synonymous ACTBL2 8 82658 9.67843E-5 41329 0 3.18634E-5
5-56777987-C-T p.Gly183Glu missense ACTBL2 5 82614 6.05224E-5 41307 0 6.37349E-5
5-56777994-G-T p.Leu181Met missense ACTBL2 1 82592 1.21077E-5 41296 0 NA
5-56778000-G-C p.Leu179Val missense ACTBL2 1 82554 1.21133E-5 41277 0 NA
5-56778002-C-A p.Arg178Leu missense ACTBL2 1 82544 1.21148E-5 41272 0 1.64818E-5
5-56778002-C-T p.Arg178His missense ACTBL2 1 82544 1.21148E-5 41272 0 8.2409E-6
5-56778003-G-A p.Arg178Cys missense ACTBL2 1 82544 1.21148E-5 41272 0 3.18715E-5
5-56778015-G-A p.His174Tyr missense ACTBL2 1 82520 1.21183E-5 41260 0 2.39097E-5
5-56778022-G-A p.Ala171Ala synonymous ACTBL2 1 82444 1.21294E-5 41222 0 1.64791E-5
5-56778023-G-A p.Ala171Val missense ACTBL2 42 82434 5.09499E-4 41217 0 0.0025
5-56778024-C-A p.Ala171Ser missense ACTBL2 1 82436 1.21306E-5 41218 0 4.1197E-5
5-56778024-C-G p.Ala171Pro missense ACTBL2 2 82436 2.42612E-5 41218 0 3.18593E-5
5-56778025-A-G p.Tyr170Tyr synonymous ACTBL2 3 82436 3.63919E-5 41218 0 4.11984E-5
5-56778033-C-T p.Glu168Lys missense ACTBL2 1 82416 1.21336E-5 41208 0 NA
5-56778035-T-C p.Tyr167Cys missense ACTBL2 2 82394 2.42736E-5 41197 0 1.59236E-4
5-56778045-C-T p.Val164Met missense ACTBL2 1 82326 1.21468E-5 41163 0 3.98546E-6
5-56778060-C-CAT p.Gly159fs frameshift ACTBL2 2 82290 2.43043E-5 41145 0 8.239E-6
5-56778078-C-T p.Val153Met missense ACTBL2 6 82330 7.28774E-5 41165 0 5.7673E-5
5-56778081-T-C p.Ile152Val missense ACTBL2 2 82356 2.42848E-5 41178 0 NA
5-56778093-G-A p.Arg148Trp missense ACTBL2 14 82418 1.69866E-4 41209 0 5.09879E-4
5-56778097-T-C p.Ser146Ser synonymous ACTBL2 57 82468 6.91177E-4 41234 0 0.00162482
5-56778097-T-G p.Ser146Ser synonymous ACTBL2 1 82470 1.21256E-5 41235 0 NA
5-56778103-A-G p.Tyr144Tyr synonymous ACTBL2 8327 82304 0.101174 41152 452 0.132931
5-56778106-G-A p.Leu143Leu synonymous ACTBL2 1 82510 1.21197E-5 41255 0 NA
5-56778124-G-GCC p.Ile137fs frameshift ACTBL2 1 82558 1.21127E-5 41279 0 NA
5-56778132-C-T p.Val135Ile missense ACTBL2 1 82592 1.21077E-5 41296 0 NA
5-56778133-A-G p.Tyr134Tyr synonymous ACTBL2 1 82608 1.21054E-5 41304 0 NA
5-56778144-G-A p.Pro131Ser missense ACTBL2 2 82658 2.41961E-5 41329 0 5.03525E-4
5-56778156-C-T p.Ala127Thr missense ACTBL2 1 82676 1.20954E-5 41338 0 NA
5-56778165-T-C p.Met124Val missense ACTBL2 1 82682 1.20945E-5 41341 0 NA
5-56778167-A-G p.Ile123Thr missense ACTBL2 9 82692 1.08838E-4 41346 0 4.78103E-4
5-56778182-TC-T p.Glu118fs frameshift ACTBL2 10 82686 1.20939E-4 41343 1 4.11943E-5
5-56778184-C-T p.Arg117Arg synonymous ACTBL2 3 82682 3.62836E-5 41341 0 1.23493E-4
5-56778185-C-A p.Arg117Leu missense ACTBL2 3 82680 3.62845E-5 41340 0 7.96705E-6
5-56778186-G-A p.Arg117Trp missense ACTBL2 2 82678 2.41902E-5 41339 0 9.06334E-5
5-56778201-T-C p.Asn112Asp missense ACTBL2 2 82672 2.4192E-5 41336 0 3.18634E-5
5-56778203-A-G p.Leu111Pro missense ACTBL2 225 82670 0.00272166 41335 3 0.00407721
5-56778213-C-T p.Glu108Lys missense ACTBL2 941 82608 0.0113911 41304 40 0.0243273
5-56778214-G-A p.Thr107Thr synonymous ACTBL2 1 82624 1.2103E-5 41312 0 1.6481E-5
5-56778215-G-A p.Thr107Ile missense ACTBL2 2 82624 2.4206E-5 41312 0 7.96813E-6
5-56778221-A-T p.Leu105His missense ACTBL2 1 82620 1.21036E-5 41310 0 NA
5-56778225-T-C p.Ile104Val missense ACTBL2 143 82598 0.00173128 41299 0 0.00137609
5-56778232-C-A p.Glu101Asp missense ACTBL2 3 82580 3.63284E-5 41290 0 3.58646E-5
5-56778234-C-T p.Glu101Lys missense ACTBL2 2 82566 2.4223E-5 41283 0 8.24158E-5
5-56778235-A-C p.Asp100Glu missense ACTBL2 237 82552 0.00287092 41276 1 0.00388191
5-56778235-A-G p.Asp100Asp synonymous ACTBL2 1 82562 1.21121E-5 41281 0 1.64837E-5
5-56778240-G-A p.Pro99Ser missense ACTBL2 2 82548 2.42283E-5 41274 0 NA
5-56778249-G-A p.Arg96Cys missense ACTBL2 1 82516 1.21189E-5 41258 0 3.18593E-5
5-56778254-T-C p.Glu94Gly missense ACTBL2 2 82488 2.4246E-5 41244 0 0.00151057
5-56778256-AT-A p.Asn93fs frameshift ACTBL2 1 82484 1.21236E-5 41242 0 NA
5-56778261-A-G p.Tyr92His missense ACTBL2 1 82446 1.21292E-5 41223 0 7.97105E-6
5-56778266-G-A p.Thr90Ile missense ACTBL2 1 82448 1.21289E-5 41224 0 1.64878E-5
5-56778269-T-A p.His89Leu missense ACTBL2 2 82420 2.4266E-5 41210 0 NA
5-56778277-GATCTT-G p.Lys85fs frameshift ACTBL2 1 82442 1.21297E-5 41221 0 NA
5-56778284-T-TGGTGGGA p.Glu84fs frameshift ACTBL2 1 82448 1.21289E-5 41224 0 NA
5-56778287-A-G p.Met83Thr missense ACTBL2 5 82456 6.06384E-5 41228 0 3.18855E-5
5-56778291-C-T p.Asp82Asn missense ACTBL2 2 82426 2.42642E-5 41213 0 1.19575E-5
5-56778291-C-A p.Asp82Tyr missense ACTBL2 1 82428 1.21318E-5 41214 0 NA
5-56778294-C-T p.Asp81Asn missense ACTBL2 1 82448 1.21289E-5 41224 0 3.98572E-6
5-56778295-C-T p.Trp80* stop_gained ACTBL2 1 82454 1.2128E-5 41227 0 8.24498E-6
5-56778296-C-T p.Trp80* stop_gained ACTBL2 7 82458 8.48917E-5 41229 0 6.37064E-5
5-56778305-A-G p.Val77Ala missense ACTBL2 268 82488 0.00324896 41244 1 0.00386696
5-56778318-C-A p.Glu73* stop_gained ACTBL2 1 82576 1.21101E-5 41288 0 8.24484E-6
5-56778319-G-T p.Ile72Ile synonymous ACTBL2 1 82580 1.21095E-5 41290 0 NA
5-56778335-G-T p.Thr67Asn missense ACTBL2 4 82626 4.84109E-5 41313 0 3.18532E-5
5-56778337-C-A p.Leu66Leu synonymous ACTBL2 1 82636 1.21013E-5 41318 0 1.1953E-5
5-56778342-C-T p.Val65Ile missense ACTBL2 2 82630 2.42043E-5 41315 0 6.37308E-5
5-56778343-G-A p.Gly64Gly synonymous ACTBL2 4 82626 4.84109E-5 41313 0 5.77281E-5
5-56778349-C-T p.Lys62Lys synonymous ACTBL2 2 82710 2.41809E-5 41355 0 1.64924E-5
5-56778352-G-T p.Ser61Arg missense ACTBL2 1 82684 1.20942E-5 41342 0 NA
5-56778373-G-A p.Tyr54Tyr synonymous ACTBL2 10 82590 1.2108E-4 41295 0 2.54858E-4
5-56778373-G-T p.Tyr54* stop_gained ACTBL2 1 82590 1.2108E-5 41295 0 3.98498E-6
5-56778376-G-C p.Cys53Trp missense ACTBL2 1 82610 1.21051E-5 41305 0 NA
5-56778377-C-T p.Cys53Tyr missense ACTBL2 6 82620 7.26216E-5 41310 0 5.03525E-4
5-56778378-A-C p.Cys53Gly missense ACTBL2 2 82626 2.42055E-5 41313 0 6.37308E-5
5-56778393-T-C p.Met48Val missense ACTBL2 1 82532 1.21165E-5 41266 0 3.18715E-5
5-56778396-C-T p.Gly47Ser missense ACTBL2 12 82538 1.45388E-4 41269 0 0.0020141
5-56778398-A-G p.Val46Ala missense ACTBL2 1 82536 1.21159E-5 41268 0 NA
5-56778405-C-T p.Val44Ile missense ACTBL2 73 82492 8.84934E-4 41246 0 0.00125
5-56778406-G-T p.Gly43Gly synonymous ACTBL2 1 82474 1.2125E-5 41237 0 1.19546E-5
5-56778406-G-A p.Gly43Gly synonymous ACTBL2 2 82474 2.42501E-5 41237 0 3.98486E-6
5-56778409-C-T p.Gln42Gln synonymous ACTBL2 1 82456 1.21277E-5 41228 0 NA
5-56778411-G-A p.Gln42* stop_gained ACTBL2 1 82446 1.21292E-5 41223 0 3.30055E-5
5-56778417-G-A p.Arg40* stop_gained ACTBL2 32 82314 3.88755E-4 41157 0 0.00125
5-56778422-C-T p.Arg38His missense ACTBL2 6 82192 7.29998E-5 41096 0 3.18735E-5
5-56778423-G-T p.Arg38Ser missense ACTBL2 119 82112 0.00144924 41056 0 0.0019725
5-56778423-G-A p.Arg38Cys missense ACTBL2 2 82110 2.43576E-5 41055 0 2.47594E-5
5-56778429-TC-AA p.MetIle35IleLeu missense ACTBL2 1 82102 1.218E-5 41051 0 NA
5-56778429-T-A p.Ile36Leu missense ACTBL2 1 82102 1.218E-5 41051 0 3.98527E-6
5-56778434-G-A p.Ser34Phe missense ACTBL2 3 82060 3.65586E-5 41030 0 1.6506E-5
5-56778451-G-T p.Pro28Pro synonymous ACTBL2 1 81774 1.22288E-5 40887 0 NA
5-56778451-G-A p.Pro28Pro synonymous ACTBL2 5 81774 6.11441E-5 40887 0 6.25E-4
5-56778457-A-G p.Asp26Asp synonymous ACTBL2 2 81690 2.44828E-5 40845 0 1.19567E-5
5-56778460-G-A p.Asp25Asp synonymous ACTBL2 6 81678 7.34592E-5 40839 0 2.86752E-4
5-56778481-G-A p.Cys18Cys synonymous ACTBL2 77 81496 9.44832E-4 40748 0 0.00175159
5-56778485-A-G p.Met17Thr missense ACTBL2 3 81452 3.68315E-5 40726 0 3.18613E-5
5-56778492-AC-A p.Ser15fs frameshift ACTBL2 2 81238 2.4619E-5 40619 0 2.47979E-5
5-56778494-C-A p.Gly14Val missense ACTBL2 1 81146 1.23235E-5 40573 0 NA
5-56778496-A-G p.Asn13Asn synonymous ACTBL2 653 81042 0.00805755 40521 6 0.009375
5-56778522-C-T p.Glu5Lys missense ACTBL2 1 79902 1.25153E-5 39951 0 6.36943E-5
5-56778533-A-G p.Met1? start_lost ACTBL2 3 78870 3.80373E-5 39435 0 3.18532E-5
5-56778559-G-C c.-25C>G 5_prime_UTR_premature_start_codon_gain ACTBL2 1 74544 1.34149E-5 37272 0 4.08954E-5
5-56778573-A-G c.-39T>C 5_prime_UTR_premature_start_codon_gain ACTBL2 1 71428 1.40001E-5 35714 0 NA