Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-66313993-G-A p.Gly4Gly synonymous ACTN3 4 35496 1.12689E-4 17748 0 2.85009E-4
11-66314015-T-C p.Cys12Arg missense ACTN3 54 35910 0.00150376 17955 0 0.00216892
11-66314043-G-T p.Arg21Ile missense ACTN3 1 36948 2.70651E-5 18474 0 NA
11-66314047-G-A p.Gly22Gly synonymous ACTN3 2 37072 5.39491E-5 18536 0 3.50497E-4
11-66314052-C-T p.Pro24Leu missense ACTN3 4 37486 1.06707E-4 18743 0 NA
11-66314053-T-A p.Pro24Pro synonymous ACTN3 1 37628 2.6576E-5 18814 0 2.33463E-5
11-66314053-T-G p.Pro24Pro synonymous ACTN3 3 37628 7.97279E-5 18814 0 6.37633E-5
11-66314060-C-A p.Arg27Arg synonymous ACTN3 1 38220 2.61643E-5 19110 0 NA
11-66314072-A-C p.Thr31Pro missense ACTN3 1 40328 2.47967E-5 20164 0 NA
11-66314101-G-T p.Glu40Asp missense ACTN3 1 48480 2.06271E-5 24240 0 1.27567E-4
11-66314105-A-G p.Ser42Gly missense ACTN3 1 49532 2.0189E-5 24766 0 NA
11-66314118-A-G p.Gln46Arg missense ACTN3 1 53848 1.85708E-5 26924 0 7.65333E-6
11-66314121-G-C p.Arg47Thr missense ACTN3 2 54546 3.66663E-5 27273 0 NA
11-66314123-G-C p.Gly48Arg missense ACTN3 4 55020 7.27008E-5 27510 0 6.26566E-4
11-66314127-C-T p.Pro49Leu missense ACTN3 1 56156 1.78075E-5 28078 0 1.52434E-5
11-66314163-C-A p.Ala61Glu missense ACTN3 3 65080 4.60971E-5 32540 0 NA
11-66314164-G-A p.Ala61Ala synonymous ACTN3 2 65170 3.0689E-5 32585 0 7.50559E-6
11-66314171-G-C p.Glu64Gln missense ACTN3 1 67426 1.48311E-5 33713 0 1.49732E-5
11-66314187-T-C p.Ile69Thr missense ACTN3 1 70476 1.41892E-5 35238 0 7.4609E-6
11-66314188-C-T p.Ile69Ile synonymous ACTN3 2 70736 2.82741E-5 35368 0 1.49187E-5
11-66314192-G-A p.Ala71Thr missense ACTN3 2 71062 2.81444E-5 35531 0 7.45623E-6
11-66314196-C-T p.Ala72Val missense ACTN3 12 71752 1.67243E-4 35876 0 0.00189633
11-66314197-G-C p.Ala72Ala synonymous ACTN3 16 71926 2.22451E-4 35963 0 5.10693E-4
11-66314201-T-C p.Ser74Pro missense ACTN3 8 72360 1.10558E-4 36180 0 2.66809E-4
11-66314201-T-G p.Ser74Ala missense ACTN3 1 72360 1.38198E-5 36180 0 NA
11-66314208-C-T p.Pro76Leu missense ACTN3 2 72932 2.74228E-5 36466 0 6.37552E-5
11-66314208-C-A p.Pro76Gln missense ACTN3 2 72930 2.74236E-5 36465 0 3.18776E-5
11-66314212-GC-G p.Pro79fs frameshift ACTN3 3 73150 4.10116E-5 36575 0 NA
11-66314214-C-A p.Pro78His missense ACTN3 31 73486 4.21849E-4 36743 0 4.46201E-4
11-66314217-C-G p.Pro79Arg missense ACTN3 12 73738 1.62738E-4 36869 0 9.56267E-5
11-66314223-C-T p.Pro81Leu missense ACTN3 2 74172 2.69644E-5 37086 0 NA
11-66314224-C-G p.Pro81Pro synonymous ACTN3 302 74240 0.00406789 37120 1 0.00743364
11-66314233-C-T p.Pro84Pro synonymous ACTN3 23 74754 3.07676E-4 37377 1 0.00790786
11-66314236-C-G p.Gly85Gly synonymous ACTN3 9 74868 1.20212E-4 37434 0 8.54409E-5
11-66314237-T-C p.Phe86Leu missense ACTN3 1 74950 1.33422E-5 37475 0 NA
11-66314252-T-G p.Cys91Gly missense ACTN3 3 75568 3.96993E-5 37784 0 8.38645E-5
11-66314263-AC-A c.276+7delC splice_region ACTN3 1 76016 1.31551E-5 38008 0 NA
11-66314359-C-T c.-50C>T 5_prime_UTR_premature_start_codon_gain ACTN3 4 78458 5.09827E-5 39229 0 2.35649E-5
11-66314374-G-T c.-35G>T 5_prime_UTR_premature_start_codon_gain ACTN3 1 78568 1.27278E-5 39284 0 NA
11-66314383-G-T c.-26G>T 5_prime_UTR_premature_start_codon_gain ACTN3 5 78600 6.36132E-5 39300 0 1.32973E-4
11-66314411-G-C p.Met1? start_lost ACTN3 11 78764 1.39658E-4 39382 0 1.9002E-5
11-66314414-G-A p.Met2Ile missense ACTN3 1 78780 1.26936E-5 39390 0 1.87913E-5
11-66314417-G-A p.Met3Ile missense ACTN3 1 78790 1.2692E-5 39395 0 NA
11-66314424-C-T p.Gln6* stop_gained ACTN3 1 78672 1.2711E-5 39336 0 NA
11-66314431-A-T p.Glu8Val missense ACTN3 1 78622 1.27191E-5 39311 0 6.18743E-6
11-66314444-C-T p.Ala12Ala synonymous ACTN3 1 78572 1.27272E-5 39286 0 NA
11-66314449-A-C p.Glu14Ala missense ACTN3 15 78668 1.90675E-4 39334 0 1.65131E-5
11-66314469-G-A p.Gly21Ser missense ACTN3 4 78902 5.06958E-5 39451 0 1.51658E-5
11-66314473-G-A p.Gly22Glu missense ACTN3 1 79020 1.2655E-5 39510 0 5.8627E-5
11-66314479-G-A p.Gly24Asp missense ACTN3 1 79064 1.2648E-5 39532 0 1.20907E-5
11-66314483-G-T p.Glu25Asp missense ACTN3 1 79242 1.26196E-5 39621 0 5.93359E-6
11-66314487-A-G p.Met27Val missense ACTN3 3 79412 3.77777E-5 39706 0 1.33618E-5
11-66314488-T-G p.Met27Arg missense ACTN3 7 79444 8.81124E-5 39722 0 7.98212E-5
11-66314492-A-G p.Glu28Glu synonymous ACTN3 1 79476 1.25824E-5 39738 0 NA
11-66314493-CAGG-C p.Glu31del disruptive_inframe_deletion ACTN3 4 79484 5.03246E-5 39742 0 9.1837E-5
11-66314500-A-G p.Glu31Gly missense ACTN3 2 79506 2.51553E-5 39753 0 NA
11-66314504-C-T p.Asp32Asp synonymous ACTN3 1 79570 1.25676E-5 39785 0 3.18796E-5
11-66314511-C-A p.Arg35Ser missense ACTN3 11 79366 1.38598E-4 39683 0 9.5645E-5
11-66314511-C-G p.Arg35Gly missense ACTN3 1 79366 1.25999E-5 39683 0 8.28923E-4
11-66314514-G-C p.Asp36His missense ACTN3 15 79352 1.89031E-4 39676 0 0.00151168
11-66314530-C-A p.Pro41Gln missense ACTN3 234 79322 0.00295 39661 1 0.00472193
11-66314539-A-G p.Glu44Gly missense ACTN3 1 79282 1.26132E-5 39641 0 6.10791E-6
11-66314547-C-T p.Gln47* stop_gained ACTN3 1 79012 1.26563E-5 39506 0 5.29661E-4
11-66314548-A-G p.Gln47Arg missense ACTN3 1 78954 1.26656E-5 39477 0 3.18573E-5
11-66314551-G-A p.Arg48Gln missense ACTN3 1 78780 1.26936E-5 39390 0 1.64512E-5
11-66314558-G-T c.147+3G>T splice_region ACTN3 1 78494 1.27398E-5 39247 0 NA
11-66318517-C-A c.148-7C>A splice_region ACTN3 2 53932 3.70837E-5 26966 0 3.18512E-5
11-66318523-G-C c.148-1G>C splice_acceptor ACTN3 2 55968 3.57347E-5 27984 0 8.35422E-5
11-66318529-C-T p.Asn51Asn synonymous ACTN3 500 57836 0.00864513 28918 6 0.015392
11-66318530-G-A p.Glu52Lys missense ACTN3 3 58426 5.1347E-5 29213 0 2.16288E-5
11-66318533-A-T p.Ser53Cys missense ACTN3 1 59656 1.67628E-5 29828 0 NA
11-66318537-C-T p.Ser54Leu missense ACTN3 1 60634 1.64924E-5 30317 0 NA
11-66318574-G-C p.Lys66Asn missense ACTN3 1 68636 1.45696E-5 34318 0 NA
11-66318577-A-C p.Ser67Ser synonymous ACTN3 1 68954 1.45024E-5 34477 0 3.18552E-5
11-66318584-G-A p.Glu70Lys missense ACTN3 7 69946 1.00077E-4 34973 0 NA
11-66318593-T-C p.Ter73Argext*? stop_lost ACTN3 1 71410 1.40036E-5 35705 0 NA
11-66318705-C-T c.277-5C>T splice_region ACTN3 1 82164 1.21708E-5 41082 0 NA
11-66318712-C-A p.Thr93Thr splice_region+synonymous ACTN3 2 82374 2.42795E-5 41187 0 1.45159E-5
11-66318722-T-C p.Trp97Arg missense ACTN3 1 82538 1.21156E-5 41269 0 1.27142E-5
11-66318734-C-A p.His101Asn missense ACTN3 2 82774 2.41622E-5 41387 0 NA
11-66318735-A-T p.His101Leu missense ACTN3 4 82762 4.83314E-5 41381 0 NA
11-66318736-C-T p.His101His synonymous ACTN3 24 82766 2.89974E-4 41383 0 2.22755E-4
11-66318741-G-A p.Arg103His missense ACTN3 3 82818 3.6224E-5 41409 0 0.00125
11-66318745-G-A p.Lys104Lys synonymous ACTN3 1 82920 1.20598E-5 41460 0 1.08136E-5
11-66318753-C-T p.Thr107Ile missense ACTN3 1 82958 1.20543E-5 41479 0 NA
11-66318761-G-A p.Glu110Lys missense ACTN3 2 82982 2.41016E-5 41491 0 1.06578E-5
11-66318767-A-G p.Ile112Val missense ACTN3 2 83006 2.40946E-5 41503 0 1.27397E-4
11-66318769-C-T p.Ile112Ile synonymous ACTN3 2 83004 2.40952E-5 41502 0 2.14671E-5
11-66318778-T-G p.Asp115Glu missense ACTN3 1 83024 1.20447E-5 41512 0 NA
11-66318778-T-C p.Asp115Asp synonymous ACTN3 2 83024 2.40894E-5 41512 0 NA
11-66318783-G-A p.Arg117His missense ACTN3 19 83000 2.28916E-4 41500 0 2.36471E-4
11-66318797-C-T p.Leu122Phe missense ACTN3 1 82984 1.20505E-5 41492 0 1.20688E-5
11-66318797-CTCATGCTGCTCCTGGAGG-C p.Met123_Val128del disruptive_inframe_deletion ACTN3 1 82984 1.20505E-5 41492 0 NA
11-66318799-C-T p.Leu122Leu synonymous ACTN3 9 82992 1.08444E-4 41496 0 8.48403E-5
11-66318803-C-T p.Leu124Leu synonymous ACTN3 596 82962 0.00718401 41481 1 0.00842466
11-66318811-G-A p.Leu126Leu synonymous ACTN3 19 82964 2.29015E-4 41482 0 8.2792E-4
11-66318815-G-A p.Val128Ile missense ACTN3 12 82954 1.44658E-4 41477 0 1.49538E-4
11-66318825-G-A c.391+1G>A splice_donor ACTN3 10 82930 1.20584E-4 41465 0 2.54745E-4
11-66318827-G-A c.391+3G>A splice_region ACTN3 3 82938 3.61716E-5 41469 0 4.37203E-5
11-66318830-G-A c.391+6G>A splice_region ACTN3 6 82930 7.23502E-5 41465 0 3.18492E-5
11-66319000-T-C p.Gly131Gly splice_region+synonymous ACTN3 2 82778 2.4161E-5 41389 0 NA
11-66319005-G-A p.Arg133Lys missense ACTN3 2 82770 2.41633E-5 41385 0 9.55475E-5
11-66319007-C-T p.Leu134Leu synonymous ACTN3 1 82736 1.20866E-5 41368 0 NA
11-66319024-A-T p.Lys139Asn missense ACTN3 1 82656 1.20983E-5 41328 0 NA
11-66319034-C-T p.Arg143Cys missense ACTN3 2 82532 2.4233E-5 41266 0 9.16865E-5
11-66319045-A-C p.Lys146Asn missense ACTN3 1 82546 1.21145E-5 41273 0 2.22958E-4
11-66319049-G-A p.Ala148Thr missense ACTN3 2 82454 2.42559E-5 41227 0 6.37064E-5
11-66319053-A-G p.Asn149Ser missense ACTN3 5 82524 6.05884E-5 41262 0 2.48665E-5
11-66319053-A-T p.Asn149Ile missense ACTN3 1 82524 1.21177E-5 41262 0 NA
11-66319054-C-T p.Asn149Asn synonymous ACTN3 6 82470 7.27537E-5 41235 0 9.55475E-5
11-66319055-G-A p.Val150Ile missense ACTN3 2 82462 2.42536E-5 41231 0 3.99514E-5
11-66319060-C-T p.Asn151Asn synonymous ACTN3 1 82460 1.21271E-5 41230 0 NA
11-66319062-A-G p.Lys152Arg missense ACTN3 2 82448 2.42577E-5 41224 0 NA
11-66319063-G-A p.Lys152Lys synonymous ACTN3 2 82426 2.42642E-5 41213 0 NA
11-66319077-T-C p.Ile157Thr missense ACTN3 2 82388 2.42754E-5 41194 0 3.99288E-6
11-66319080-C-A p.Ala158Asp missense ACTN3 1 82334 1.21457E-5 41167 0 1.99642E-5
11-66319083-G-A p.Ser159Asn missense ACTN3 2 82334 2.42913E-5 41167 0 3.99281E-6
11-66319091-G-A p.Val162Ile missense ACTN3 1 82246 1.21586E-5 41123 0 3.1841E-5
11-66319101-T-C p.Val165Ala missense ACTN3 2 82192 2.43333E-5 41096 0 NA
11-66319116-A-C p.Glu170Ala missense+splice_region ACTN3 8 82156 9.73757E-5 41078 0 2.22973E-4
11-66319123-G-C c.511+5G>C splice_region ACTN3 2 82068 2.437E-5 41034 0 6.36659E-5
11-66319126-G-T c.511+8G>T splice_region ACTN3 3 82038 3.65684E-5 41019 0 2.79787E-5
11-66321515-G-A c.512-1G>A splice_acceptor ACTN3 7 83222 8.41124E-5 41611 0 9.63886E-5
11-66321521-G-A p.Val173Ile missense ACTN3 2 83234 2.40286E-5 41617 0 5.03525E-4
11-66321527-G-A p.Gly175Arg missense ACTN3 17 83258 2.04185E-4 41629 0 1.5512E-4
11-66321528-GGAACCTGAAGAT-G p.Asn176_Met179del disruptive_inframe_deletion ACTN3 2 83266 2.40194E-5 41633 0 NA
11-66321534-T-A p.Leu177Gln missense ACTN3 1 83268 1.20094E-5 41634 0 NA
11-66321542-A-C p.Thr180Pro missense ACTN3 2 83266 2.40194E-5 41633 0 1.98845E-5
11-66321550-C-T p.Gly182Gly synonymous ACTN3 1 83288 1.20065E-5 41644 0 NA
11-66321558-G-A p.Trp185* stop_gained ACTN3 1 83294 1.20057E-5 41647 0 8.24049E-6
11-66321567-T-C p.Ile188Thr missense ACTN3 4 83288 4.80261E-5 41644 0 3.29625E-5
11-66321572-C-T p.Arg190Cys missense ACTN3 5 83272 6.00442E-5 41636 0 9.64444E-5
11-66321573-G-A p.Arg190His missense ACTN3 1 83268 1.20094E-5 41634 0 1.59075E-5
11-66321578-G-A p.Ala192Thr missense ACTN3 3 83280 3.60231E-5 41640 0 6.42797E-5
11-66321580-C-T p.Ala192Ala synonymous ACTN3 1 83288 1.20065E-5 41644 0 3.21564E-5
11-66321588-A-G p.Asp195Gly missense ACTN3 1 83252 1.20117E-5 41626 0 8.24661E-6
11-66321595-T-G p.Ser197Ser synonymous ACTN3 8 83222 9.61284E-5 41611 0 1.28949E-4
11-66321597-T-C p.Val198Ala missense ACTN3 10 83216 1.20169E-4 41608 0 3.22726E-5
11-66321999-C-T c.599-8C>T splice_region ACTN3 1 82688 1.20937E-5 41344 0 6.4E-5
11-66322001-A-T c.599-6A>T splice_region ACTN3 1 82680 1.20948E-5 41340 0 NA
11-66322030-C-T p.Leu208Phe missense ACTN3 14 82846 1.68988E-4 41423 0 8.14074E-5
11-66322038-G-A p.Trp210* stop_gained ACTN3 1 82840 1.20715E-5 41420 0 NA
11-66322053-A-C p.Thr215Thr synonymous ACTN3 1 82828 1.20732E-5 41414 0 NA
11-66322058-C-T p.Pro217Leu missense ACTN3 6 82810 7.2455E-5 41405 0 6.24623E-5
11-66322059-G-A p.Pro217Pro synonymous ACTN3 4 82800 4.83092E-5 41400 0 4.15999E-5
11-66322063-C-T p.Arg219Cys missense ACTN3 1 82786 1.20793E-5 41393 0 4.1625E-5
11-66322069-G-A p.Val221Ile missense ACTN3 2 82784 2.41593E-5 41392 0 2.11743E-5
11-66322075-G-A p.Val223Met missense ACTN3 4 82758 4.83337E-5 41379 0 0.00151057
11-66322095-G-T c.686+1G>T splice_donor ACTN3 3 82720 3.62669E-5 41360 0 6.6257E-5
11-66322595-G-C c.687-6G>C splice_region ACTN3 2 82164 2.43416E-5 41082 0 3.19921E-5
11-66322610-T-A p.Asp232Glu missense ACTN3 1 82570 1.21109E-5 41285 0 NA
11-66322617-G-A p.Ala235Thr missense ACTN3 1 82612 1.21048E-5 41306 0 1.66141E-5
11-66322638-C-T p.Arg242* stop_gained ACTN3 4 82922 4.82381E-5 41461 0 1.91534E-4
11-66322639-G-A p.Arg242Gln missense ACTN3 411 82904 0.00495754 41452 13 0.00253085
11-66322644-C-T p.Arg244Cys missense ACTN3 9 82982 1.08457E-4 41491 0 0.00151057
11-66322645-G-A p.Arg244His missense ACTN3 7 82972 8.43658E-5 41486 0 5.18135E-5
11-66322647-C-T p.Pro245Ser missense ACTN3 3 83034 3.61298E-5 41517 0 6.37999E-5
11-66322652-C-T p.Asp246Asp synonymous ACTN3 1 83096 1.20343E-5 41548 0 NA
11-66322653-C-T p.Leu247Phe missense ACTN3 8 83102 9.62672E-5 41551 0 4.50339E-4
11-66322655-C-T p.Leu247Leu synonymous ACTN3 1 83114 1.20317E-5 41557 0 NA
11-66322659-G-A p.Asp249Asn missense ACTN3 1 83102 1.20334E-5 41551 0 3.98711E-6
11-66322664-C-T p.Tyr250Tyr synonymous ACTN3 3 83146 3.60811E-5 41573 0 3.3089E-5
11-66322665-G-A p.Ala251Thr missense ACTN3 4 83116 4.81255E-5 41558 0 1.65459E-5
11-66322673-G-A p.Leu253Leu synonymous ACTN3 2 83172 2.40466E-5 41586 0 NA
11-66322674-C-A p.Arg254Arg synonymous ACTN3 2 83174 2.4046E-5 41587 0 NA
11-66322674-C-T p.Arg254* stop_gained ACTN3 1 83174 1.2023E-5 41587 0 3.99087E-6
11-66322675-G-A p.Arg254Gln missense ACTN3 119 83170 0.0014308 41585 6 0.00556751
11-66322686-GC-G c.765+8delC splice_region ACTN3 1 83180 1.20221E-5 41590 0 8.27445E-6
11-66322765-C-T p.Pro258Pro synonymous ACTN3 5 83254 6.00572E-5 41627 0 9.92408E-5
11-66322768-C-T p.Ile259Ile synonymous ACTN3 4 83246 4.80504E-5 41623 0 6.25E-4
11-66322769-G-A p.Gly260Arg missense ACTN3 1 83252 1.20117E-5 41626 0 5.03525E-4
11-66322773-A-T p.Asn261Ile missense ACTN3 1 83258 1.20109E-5 41629 0 NA
11-66322780-C-T p.Asn263Asn synonymous ACTN3 1 83256 1.20111E-5 41628 0 8.26802E-6
11-66322792-G-A p.Glu267Glu synonymous ACTN3 7 83248 8.40861E-5 41624 0 3.9894E-6
11-66322792-G-C p.Glu267Asp missense ACTN3 5 83246 6.00629E-5 41623 1 3.47171E-4
11-66322822-G-A p.Lys277Lys synonymous ACTN3 1 83116 1.20314E-5 41558 0 1.19725E-5
11-66322827-T-G p.Leu279Trp missense ACTN3 1 83048 1.20412E-5 41524 0 NA
11-66322833-C-T p.Ala281Val missense ACTN3 784 82868 0.00946083 41434 3 0.0166163
11-66322834-A-G p.Ala281Ala synonymous ACTN3 2 82910 2.41225E-5 41455 0 3.18756E-5
11-66322840-T-C c.847+2T>C splice_donor ACTN3 3 82732 3.62617E-5 41366 0 3.31356E-5
11-66323627-A-T p.Thr287Ser missense ACTN3 1 82662 1.20975E-5 41331 0 3.18674E-5
11-66323637-C-T p.Pro290Leu missense ACTN3 14 82768 1.69147E-4 41384 0 7.27573E-4
11-66323638-G-A p.Pro290Pro synonymous ACTN3 3 82760 3.62494E-5 41380 0 6.38646E-5
11-66323641-T-C p.Asp291Asp synonymous ACTN3 1 82808 1.20761E-5 41404 0 1.65256E-5
11-66323645-A-G p.Lys293Glu missense ACTN3 2 82826 2.4147E-5 41413 0 1.19677E-5
11-66323648-G-C p.Ala294Pro missense ACTN3 6 82806 7.24585E-5 41403 0 1.27437E-4
11-66323665-G-A p.Val299Val synonymous ACTN3 1 82834 1.20723E-5 41417 0 NA
11-66323670-G-A p.Cys301Tyr missense ACTN3 1 82834 1.20723E-5 41417 0 1.15659E-4
11-66323671-C-A p.Cys301* stop_gained ACTN3 5 82832 6.03631E-5 41416 0 NA
11-66323681-G-T p.Ala305Ser missense ACTN3 2 82794 2.41563E-5 41397 0 NA
11-66323682-C-A p.Ala305Asp missense ACTN3 1 82796 1.20779E-5 41398 0 3.18431E-5
11-66323683-C-CT p.Ala307fs frameshift ACTN3 2 82796 2.41558E-5 41398 0 1.27372E-4
11-66323690-G-A p.Gly308Arg missense ACTN3 1 82738 1.20863E-5 41369 0 4.96631E-5
11-66323708-C-T c.933+7C>T splice_region ACTN3 4 82446 4.85166E-5 41223 0 9.98768E-5
11-66324596-C-G c.934-8C>G splice_region ACTN3 1 82334 1.21457E-5 41167 0 NA
11-66324597-C-G c.934-7C>G splice_region ACTN3 2 82336 2.42907E-5 41168 0 1.26081E-5
11-66324599-C-G c.934-5C>G splice_region ACTN3 6 82372 7.28403E-5 41186 0 2.19164E-4
11-66324618-C-T p.Ala316Ala synonymous ACTN3 1 82512 1.21194E-5 41256 0 6.25E-4
11-66324629-G-A p.Cys320Tyr missense ACTN3 1 82552 1.21136E-5 41276 0 NA
11-66324652-G-A p.Glu328Lys missense ACTN3 9 82518 1.09067E-4 41259 0 2.09814E-4
11-66324657-C-T p.Asn329Asn synonymous ACTN3 1 82494 1.21221E-5 41247 0 4.25206E-5
11-66324664-C-T p.Leu332Leu synonymous ACTN3 1 82430 1.21315E-5 41215 0 NA
11-66324681-G-C p.Glu337Asp missense ACTN3 1 82138 1.21746E-5 41069 0 NA
11-66324683-A-G p.Lys338Arg missense ACTN3 1 82058 1.21865E-5 41029 0 NA
11-66324689-C-G p.Ala340Gly missense ACTN3 1 81838 1.22193E-5 40919 0 NA
11-66324699-G-A c.1026+3G>A splice_region ACTN3 1 81516 1.22675E-5 40758 0 NA
11-66325163-C-T c.1027-7C>T splice_region ACTN3 1 80540 1.24162E-5 40270 0 8.55527E-6
11-66325164-T-C c.1027-6T>C splice_region ACTN3 2 80516 2.48398E-5 40258 0 6.37267E-5
11-66325176-GA-AG p.Glu345Arg missense ACTN3 3 80624 3.72098E-5 40312 0 NA
11-66325185-C-T p.Arg348Cys missense ACTN3 2 80914 2.47176E-5 40457 0 3.18492E-5
11-66325186-G-A p.Arg348His missense ACTN3 2 80946 2.47078E-5 40473 0 3.18492E-5
11-66325188-C-T p.Arg349Cys missense ACTN3 7 81146 8.62643E-5 40573 0 5.04541E-4
11-66325196-C-T p.Val351Val synonymous ACTN3 1 81594 1.22558E-5 40797 0 1.02912E-5
11-66325197-C-G p.Pro352Ala missense ACTN3 1 81678 1.22432E-5 40839 0 NA
11-66325208-G-A p.Glu355Glu synonymous ACTN3 1 81946 1.22032E-5 40973 0 4.02901E-6
11-66325212-C-T p.Arg357Cys missense ACTN3 41 81988 5.00073E-4 40994 0 0.010625
11-66325213-GTGT-G p.Val358del disruptive_inframe_deletion ACTN3 1 82032 1.21904E-5 41016 0 NA
11-66325213-G-A p.Arg357His missense ACTN3 2 82032 2.43807E-5 41016 0 7.67283E-5
11-66325219-GTGA-G p.Glu360del disruptive_inframe_deletion ACTN3 1 82146 1.21734E-5 41073 0 NA
11-66325224-CCCAGCATGAGTGCCA-C p.Pro361_Met366delinsLeu disruptive_inframe_deletion ACTN3 1 82252 1.21578E-5 41126 0 NA
11-66325231-T-C p.Met363Thr missense ACTN3 3 82478 3.63733E-5 41239 0 0.00100806
11-66325238-C-T p.Ala365Ala synonymous ACTN3 1 82566 1.21115E-5 41283 0 0.00125
11-66325241-G-A p.Met366Ile missense ACTN3 1 82570 1.21109E-5 41285 0 4.00243E-6
11-66325245-CGCAAACTAG-C p.Arg368_Glu371delinsGln disruptive_inframe_deletion ACTN3 1 82590 1.2108E-5 41295 0 NA
11-66325246-G-A p.Arg368His missense ACTN3 8 82604 9.68476E-5 41302 0 0.00251762
11-66325246-GC-G p.Lys369fs frameshift ACTN3 1 82604 1.2106E-5 41302 0 NA
11-66325257-GACT-G p.Asp372_Phe373delinsVal disruptive_inframe_deletion ACTN3 1 82742 1.20858E-5 41371 0 NA
11-66325260-T-C p.Phe373Leu missense ACTN3 5 82760 6.04157E-5 41380 0 6.36983E-5
11-66325262-T-C p.Phe373Phe synonymous ACTN3 1 82772 1.20814E-5 41386 0 3.1943E-5
11-66325263-C-T p.Arg374Trp missense ACTN3 4 82776 4.83232E-5 41388 0 1.19948E-5
11-66325264-G-A p.Arg374Gln missense ACTN3 23 82766 2.77892E-4 41383 0 0.005625
11-66325266-G-T p.Asp375Tyr missense ACTN3 3 82768 3.62459E-5 41384 0 3.18471E-5
11-66325269-T-C p.Tyr376His missense ACTN3 1 82782 1.20799E-5 41391 0 NA
11-66325272-C-G p.Arg377Gly missense ACTN3 7 82786 8.45554E-5 41393 0 3.1841E-5
11-66325272-C-T p.Arg377Trp missense ACTN3 12 82786 1.44952E-4 41393 0 0.00125
11-66325273-G-A p.Arg377Gln missense ACTN3 2 82752 2.41686E-5 41376 0 4.39259E-5
11-66325288-C-T p.Pro382Leu missense ACTN3 1 82874 1.20665E-5 41437 0 6.36862E-5
11-66325293-C-T p.Arg384Cys missense ACTN3 5 82854 6.03471E-5 41427 0 0.00125
11-66325304-A-C p.Glu387Asp missense ACTN3 1 82948 1.20557E-5 41474 0 9.55475E-5
11-66325304-A-T p.Glu387Asp missense ACTN3 2 82948 2.41115E-5 41474 0 1.19429E-5
11-66325308-T-C p.Cys389Arg missense ACTN3 1 82932 1.20581E-5 41466 0 NA
11-66325324-A-G p.Asn394Ser missense ACTN3 4 82944 4.82253E-5 41472 0 1.19398E-5
11-66325334-A-G p.Thr397Thr synonymous ACTN3 2 82940 2.41138E-5 41470 0 1.98981E-5
11-66325350-C-T p.Arg403Trp missense ACTN3 1 82846 1.20706E-5 41423 0 8.34265E-6
11-66325351-G-A p.Arg403Gln missense ACTN3 3 82840 3.62144E-5 41420 0 3.58343E-5
11-66325355-C-T p.Leu404Leu synonymous ACTN3 1 82818 1.20747E-5 41409 0 NA
11-66325362-C-T p.Arg407Trp missense ACTN3 8 82784 9.6637E-5 41392 0 7.96686E-6
11-66325362-C-G p.Arg407Gly missense ACTN3 2 82784 2.41593E-5 41392 0 NA
11-66325363-G-A p.Arg407Gln missense ACTN3 3 82750 3.62538E-5 41375 0 1.67084E-5
11-66325365-C-T p.Pro408Ser missense ACTN3 5 82750 6.0423E-5 41375 0 6.25E-4
11-66325376-G-C p.Met411Ile missense ACTN3 1 82612 1.21048E-5 41306 0 NA
11-66325382-C-T p.Ser413Ser synonymous ACTN3 180 82472 0.00218256 41236 4 0.00485531
11-66325383-G-C p.Glu414Gln missense ACTN3 1 82404 1.21353E-5 41202 0 1.67732E-5
11-66325399-C-T p.Ser419Leu missense+splice_region ACTN3 2 82130 2.43516E-5 41065 0 9.55718E-5
11-66325400-G-A p.Ser419Ser splice_region+synonymous ACTN3 2 82052 2.43748E-5 41026 0 9.27237E-5
11-66325400-G-C p.Ser419Ser splice_region+synonymous ACTN3 1 82052 1.21874E-5 41026 0 4.09175E-6
11-66325503-C-T p.Ile421Ile synonymous ACTN3 1 82260 1.21566E-5 41130 0 6.36821E-5
11-66325504-G-A p.Ala422Thr missense ACTN3 2 82256 2.43143E-5 41128 0 1.20443E-5
11-66325506-C-G p.Ala422Ala synonymous ACTN3 8 82286 9.72219E-5 41143 0 0.00151057
11-66325506-C-T p.Ala422Ala synonymous ACTN3 2 82286 2.43055E-5 41143 0 NA
11-66325510-G-A p.Ala424Thr missense ACTN3 22 82288 2.67354E-4 41144 0 7.00503E-4
11-66325515-G-A p.Trp425* stop_gained ACTN3 2 82280 2.43072E-5 41140 0 5.03525E-4
11-66325516-C-T p.Arg426Trp missense ACTN3 3 82260 3.64697E-5 41130 0 9.55657E-5
11-66325516-C-A p.Arg426Arg synonymous ACTN3 1 82260 1.21566E-5 41130 0 1.20561E-4
11-66325518-G-A p.Arg426Arg synonymous ACTN3 1 82326 1.21468E-5 41163 0 3.37297E-5
11-66325519-G-A p.Gly427Arg missense ACTN3 161 82298 0.00195631 41149 3 0.00132477
11-66325519-G-T p.Gly427Trp missense ACTN3 1 82302 1.21504E-5 41151 0 6.25E-4
11-66325520-G-A p.Gly427Glu missense ACTN3 4 82302 4.86015E-5 41151 0 5.03525E-4
11-66325534-G-A p.Glu432Lys missense ACTN3 2 82408 2.42695E-5 41204 0 NA
11-66325545-T-C p.Tyr435Tyr synonymous ACTN3 1 82418 1.21333E-5 41209 0 4.00904E-6
11-66325554-G-C p.Trp438Cys missense ACTN3 1 82382 1.21386E-5 41191 0 3.18532E-5
11-66325561-T-TCGGAGATC p.Leu446fs frameshift ACTN3 3 82228 3.64839E-5 41114 0 3.18532E-5
11-66325561-T-C p.Ser441Pro missense ACTN3 1 82228 1.21613E-5 41114 0 NA
11-66325562-C-T p.Ser441Leu missense ACTN3 1 82222 1.21622E-5 41111 0 8.45938E-6
11-66325563-G-A p.Ser441Ser synonymous ACTN3 317 82198 0.00385654 41099 2 0.00668832
11-66325566-G-T p.Glu442Asp missense ACTN3 1 82212 1.21637E-5 41106 0 NA
11-66325569-C-A p.Ile443Ile synonymous ACTN3 2 82226 2.43232E-5 41113 0 6.37186E-5
11-66325574-G-A p.Arg445His missense ACTN3 1 82162 1.21711E-5 41081 0 1.68711E-5
11-66325577-T-C p.Leu446Pro missense ACTN3 1 82204 1.21649E-5 41102 0 NA
11-66325578-G-A p.Leu446Leu synonymous ACTN3 2 82206 2.43291E-5 41103 0 NA
11-66325583-G-A p.Arg448Gln missense ACTN3 2 82178 2.43374E-5 41089 0 4.20486E-5
11-66325609-C-T p.Arg457Trp missense ACTN3 98 81958 0.00119573 40979 2 0.00957661
11-66325610-G-A p.Arg457Gln missense ACTN3 3 81954 3.66059E-5 40977 0 1.20243E-5
11-66325618-G-T p.Ala460Ser missense ACTN3 30 81834 3.66596E-4 40917 1 0.00159213
11-66325625-T-C p.Leu462Pro missense ACTN3 3 81696 3.67215E-5 40848 0 4.01403E-6
11-66325629-C-G p.His463Gln missense ACTN3 1 81554 1.22618E-5 40777 0 6.42875E-5
11-66325629-C-T p.His463His synonymous ACTN3 1 81554 1.22618E-5 40777 0 8.4117E-6
11-66325639-A-C p.Thr467Pro missense ACTN3 1 81132 1.23256E-5 40566 0 NA
11-66325640-C-T p.Thr467Ile missense ACTN3 4 81114 4.93133E-5 40557 0 4.03203E-6
11-66325642-C-T p.Arg468Trp missense ACTN3 3 81030 3.70233E-5 40515 0 1.43605E-4
11-66325642-C-G p.Arg468Gly missense ACTN3 1 81030 1.23411E-5 40515 0 NA
11-66325644-G-C p.Arg468Arg splice_region+synonymous ACTN3 1 80880 1.2364E-5 40440 0 4.03939E-6
11-66325646-G-A c.1405+1G>A splice_donor ACTN3 21 80816 2.5985E-4 40408 0 9.29511E-5
11-66325651-T-C c.1405+6T>C splice_region ACTN3 3 80564 3.72375E-5 40282 0 6.3743E-5
11-66325653-G-A c.1405+8G>A splice_region ACTN3 10 80444 1.2431E-4 40222 0 1.27224E-4
11-66326703-G-A c.1406-4G>A splice_region ACTN3 1 80150 1.24766E-5 40075 0 NA
11-66326709-AAGG-A p.Glu472del conservative_inframe_deletion ACTN3 1 80554 1.2414E-5 40277 0 5.18559E-6
11-66326712-G-A p.Glu471Lys missense ACTN3 1 80630 1.24023E-5 40315 0 8.93495E-6
11-66326713-A-C p.Glu471Ala missense ACTN3 1 80628 1.24026E-5 40314 0 6.3804E-5
11-66326716-A-T p.Glu472Val missense ACTN3 9 80654 1.11588E-4 40327 0 1.91412E-4
11-66326717-G-A p.Glu472Glu synonymous ACTN3 2 80704 2.47819E-5 40352 0 8.88526E-6
11-66326722-T-G p.Leu474Arg missense ACTN3 1 80796 1.23769E-5 40398 0 8.81679E-6
11-66326726-C-G p.Ser475Arg missense ACTN3 11 80790 1.36155E-4 40395 0 2.55053E-4
11-66326727-C-T p.Gln476* stop_gained ACTN3 3 80868 3.70975E-5 40434 0 9.85231E-6
11-66326732-C-T p.Arg477Arg synonymous ACTN3 9 80880 1.11276E-4 40440 0 3.46747E-5
11-66326744-G-A p.Ser481Ser synonymous ACTN3 1 80950 1.23533E-5 40475 0 1.71482E-5
11-66326759-G-A p.Glu486Glu synonymous ACTN3 1 80752 1.23836E-5 40376 0 8.55681E-6
11-66326768-G-A p.Ala489Ala synonymous ACTN3 3 80458 3.72865E-5 40229 0 6.25E-4
11-66326770-T-C p.Leu490Ser missense ACTN3 1 80498 1.24227E-5 40249 0 9.46432E-6
11-66326779-G-A p.Arg493His missense ACTN3 4 80272 4.98306E-5 40136 0 7.73342E-5
11-66326782-A-G p.His494Arg missense ACTN3 2 80324 2.48992E-5 40162 0 NA
11-66326784-G-C p.Glu495Gln missense ACTN3 5 80254 6.23022E-5 40127 0 9.47916E-5
11-66326787-G-A p.Ala496Thr missense ACTN3 3 80170 3.74205E-5 40085 0 3.18918E-5
11-66326798-C-T p.Ser499Ser synonymous ACTN3 4 79670 5.02071E-5 39835 0 9.57304E-5
11-66326801-C-A p.Asp500Glu missense ACTN3 1 79592 1.25641E-5 39796 0 NA
11-66326807-G-A p.Ala502Ala synonymous ACTN3 2 79126 2.52761E-5 39563 0 1.91269E-5
11-66326809-C-T p.Ala503Val missense ACTN3 2 79042 2.5303E-5 39521 0 NA
11-66326810-G-A p.Ala503Ala synonymous ACTN3 1 79002 1.26579E-5 39501 0 9.65838E-6
11-66326811-C-G p.His504Asp missense ACTN3 1 79032 1.26531E-5 39516 0 NA
11-66326814-C-G p.Gln505Glu missense ACTN3 2 78980 2.53229E-5 39490 0 9.54955E-6
11-66326822-C-A p.Arg507Arg synonymous ACTN3 1 78494 1.27398E-5 39247 0 9.98602E-6
11-66326823-G-A p.Val508Met missense ACTN3 1 78502 1.27385E-5 39251 0 3.19061E-5
11-66326825-G-C p.Val508Val synonymous ACTN3 1 78458 1.27457E-5 39229 0 NA
11-66326826-G-C p.Glu509Gln missense ACTN3 1 78458 1.27457E-5 39229 0 NA
11-66326828-G-C p.Glu509Asp missense ACTN3 1 78344 1.27642E-5 39172 0 1.18994E-4
11-66326829-C-T p.His510Tyr missense ACTN3 1 78264 1.27773E-5 39132 0 NA
11-66326837-C-T p.Ala512Ala synonymous ACTN3 2 77644 2.57586E-5 38822 0 3.19E-5
11-66326838-G-C p.Ala513Pro missense ACTN3 2 77568 2.57838E-5 38784 0 1.27681E-4
11-66326840-G-A p.Ala513Ala synonymous ACTN3 260 77418 0.00335839 38709 0 0.00866463
11-66326842-T-G p.Leu514Arg missense ACTN3 3 77420 3.87497E-5 38710 0 1.23704E-5
11-66326854-T-A p.Leu518His missense ACTN3 1 76852 1.3012E-5 38426 0 6.65451E-6
11-66326859-T-C c.1556+2T>C splice_donor ACTN3 1 76456 1.30794E-5 38228 0 6.39059E-5
11-66326862-G-C c.1556+5G>C splice_region ACTN3 1 76170 1.31285E-5 38085 0 NA
11-66327431-G-A c.1557-8G>A splice_region ACTN3 8 78186 1.0232E-4 39093 0 1.91217E-4
11-66327431-G-C c.1557-8G>C splice_region ACTN3 2 78186 2.558E-5 39093 0 NA
11-66327434-C-G c.1557-5C>G splice_region ACTN3 1 78452 1.27466E-5 39226 0 NA
11-66327446-G-C p.Asp522His missense ACTN3 1 78748 1.26987E-5 39374 0 4.61506E-4
11-66327450-A-G p.Tyr523Cys missense ACTN3 2 78806 2.53788E-5 39403 0 NA
11-66327456-A-G p.Glu525Gly missense ACTN3 1 78910 1.26727E-5 39455 0 1.11903E-4
11-66327468-T-C p.Val529Ala missense ACTN3 1 79096 1.26429E-5 39548 0 NA
11-66327476-C-T p.Arg532Cys missense ACTN3 1 79074 1.26464E-5 39537 0 NA
11-66327487-C-A p.Ala535Ala synonymous ACTN3 1 79032 1.26531E-5 39516 0 8.50485E-6
11-66327493-C-T p.Cys537Cys synonymous ACTN3 1 78892 1.26756E-5 39446 0 4.23718E-6
11-66327494-G-A p.Asp538Asn missense ACTN3 1 78908 1.2673E-5 39454 0 8.4845E-6
11-66327500-T-C p.Trp540Arg missense ACTN3 1 78818 1.26875E-5 39409 0 6.42797E-5
11-66327503-G-A p.Asp541Asn missense ACTN3 19 78744 2.41288E-4 39372 0 3.82873E-4
11-66327503-G-T p.Asp541Tyr missense ACTN3 6 78744 7.61963E-5 39372 0 4.12541E-5
11-66327511-G-A p.Leu543Leu synonymous ACTN3 1 78498 1.27392E-5 39249 0 NA
11-66327526-G-C p.Gln548His missense ACTN3 3 77834 3.85436E-5 38917 0 1.80701E-5
11-66327533-C-T p.Arg551Trp missense ACTN3 2 77358 2.58538E-5 38679 0 1.89653E-5
11-66327534-G-A p.Arg551Gln missense ACTN3 1 77256 1.2944E-5 38628 0 2.35796E-5
11-66327540-C-A p.Ala553Glu missense ACTN3 1 76708 1.30364E-5 38354 0 NA
11-66327541-G-A p.Ala553Ala synonymous ACTN3 17 76626 2.21857E-4 38313 0 0.00126422
11-66327543-T-C p.Leu554Pro missense ACTN3 7 76534 9.14626E-5 38267 0 5.12838E-5
11-66327545-G-C p.Glu555Gln missense+splice_region ACTN3 1 76344 1.30986E-5 38172 0 NA
11-66327548-G-T c.1665+1G>T splice_donor ACTN3 7 76076 9.20133E-5 38038 0 1.91388E-4
11-66327550-G-A c.1665+3G>A splice_region ACTN3 2 75926 2.63414E-5 37963 0 NA
11-66327643-G-A p.Arg556Gln missense+splice_region ACTN3 8 80212 9.97357E-5 40106 0 4.61376E-4
11-66327644-G-T p.Arg556Arg splice_region+synonymous ACTN3 2 80242 2.49246E-5 40121 0 NA
11-66327653-G-A p.Lys559Lys synonymous ACTN3 3 80358 3.73329E-5 40179 0 NA
11-66327665-C-T p.Thr563Thr synonymous ACTN3 1 80546 1.24153E-5 40273 0 4.21024E-6
11-66327670-A-G p.Asp565Gly missense ACTN3 1 80508 1.24211E-5 40254 0 NA
11-66327671-C-T p.Asp565Asp synonymous ACTN3 2 80536 2.48336E-5 40268 0 NA
11-66327672-C-T p.Arg566Trp missense ACTN3 2 80554 2.48281E-5 40277 0 1.96447E-4
11-66327673-G-A p.Arg566Gln missense ACTN3 44279 78980 0.560636 39490 12656 0.648652
11-66327681-C-A p.Leu569Met missense ACTN3 2 80662 2.47948E-5 40331 0 NA
11-66327696-C-T p.Arg574Trp missense ACTN3 3 80634 3.72052E-5 40317 0 3.18634E-5
11-66327696-C-G p.Arg574Gly missense ACTN3 1 80634 1.24017E-5 40317 0 NA
11-66327697-G-A p.Arg574Gln missense ACTN3 9 80692 1.11535E-4 40346 0 3.88244E-5
11-66327701-C-T p.Ala575Ala synonymous ACTN3 1 80668 1.23965E-5 40334 0 1.93039E-5
11-66327703-C-T p.Ala576Val missense ACTN3 14 80646 1.73598E-4 40323 0 0.00125
11-66327704-G-A p.Ala576Ala synonymous ACTN3 1 80696 1.23922E-5 40348 0 1.14855E-4
11-66327714-A-G p.Asn580Asp missense ACTN3 1 80978 1.2349E-5 40489 0 NA
11-66327719-G-A p.Trp581* stop_gained ACTN3 4 80954 4.94108E-5 40477 0 5.61914E-5
11-66327727-G-A p.Gly584Asp missense ACTN3 38 80852 4.69995E-4 40426 0 2.60455E-4
11-66327731-C-T p.Ala585Ala synonymous ACTN3 1 80790 1.23778E-5 40395 0 2.44858E-5
11-66327732-G-A p.Val586Met missense ACTN3 27 80798 3.34167E-4 40399 0 0.0015121
11-66327737-G-A p.Glu587Glu synonymous ACTN3 1 80838 1.23704E-5 40419 0 9.24881E-6
11-66327750-G-A p.Val592Met missense ACTN3 12 80818 1.48482E-4 40409 0 0.00151515
11-66327752-G-A p.Val592Val synonymous ACTN3 1 80840 1.23701E-5 40420 0 NA
11-66327768-G-T p.Val598Leu missense ACTN3 1 80824 1.23726E-5 40412 0 0.0025
11-66327769-T-C p.Val598Ala missense ACTN3 1 80810 1.23747E-5 40405 0 1.63686E-5
11-66327771-G-A p.Glu599Lys missense ACTN3 1 80856 1.23677E-5 40428 0 1.22914E-5
11-66327776-G-T p.Glu600Asp missense ACTN3 2 80928 2.47133E-5 40464 0 NA
11-66327779-C-G p.Thr601Thr synonymous ACTN3 2 80962 2.47029E-5 40481 0 NA
11-66327782-G-A p.Gln602Gln splice_region+synonymous ACTN3 1 81058 1.23368E-5 40529 0 NA
11-66328036-G-A c.1807-8G>A splice_region ACTN3 200 81162 0.00246421 40581 0 0.00490915
11-66328044-A-G p.Ser603Gly missense+splice_region ACTN3 1 81472 1.22742E-5 40736 0 1.2248E-5
11-66328054-CA-TG p.Thr606Met missense ACTN3 2 81682 2.44852E-5 40841 0 NA
11-66328055-A-G p.Thr606Thr synonymous ACTN3 12575 81334 0.154609 40667 1057 0.173355
11-66328058-G-A p.Ala607Ala synonymous ACTN3 104 81734 0.00127242 40867 0 0.00125
11-66328060-A-G p.His608Arg missense ACTN3 1 81798 1.22252E-5 40899 0 1.2747E-4
11-66328061-C-T p.His608His synonymous ACTN3 7 81852 8.55202E-5 40926 0 5.03525E-4
11-66328062-G-C p.Asp609His missense ACTN3 1 81882 1.22127E-5 40941 0 3.18654E-5
11-66328062-G-A p.Asp609Asn missense ACTN3 4 81882 4.88508E-5 40941 0 6.37308E-5
11-66328073-G-A p.Lys612Lys synonymous ACTN3 1 82042 1.21889E-5 41021 0 NA
11-66328074-GC-AA p.Ala613Lys missense ACTN3 2 82030 2.43813E-5 41015 0 NA
11-66328080-C-T p.Leu615Leu synonymous ACTN3 2 82082 2.43659E-5 41041 0 NA
11-66328083-C-G p.Pro616Ala missense ACTN3 1 82096 1.21809E-5 41048 0 4.01974E-6
11-66328085-C-T p.Pro616Pro synonymous ACTN3 1 82116 1.21779E-5 41058 0 3.32995E-5
11-66328086-G-A p.Glu617Lys missense ACTN3 2 82140 2.43487E-5 41070 0 0.00100705
11-66328090-C-T p.Ala618Val missense ACTN3 3 82144 3.65212E-5 41072 0 NA
11-66328091-T-C p.Ala618Ala synonymous ACTN3 1 82152 1.21726E-5 41076 0 NA
11-66328092-G-A p.Asp619Asn missense ACTN3 1 82164 1.21708E-5 41082 0 NA
11-66328095-T-C p.Ter620Argext*? stop_lost ACTN3 46516 81220 0.572716 40610 13688 0.659802
11-66328101-C-T p.Arg622* stop_gained ACTN3 19 82196 2.31155E-4 41098 0 1.76683E-4
11-66328102-G-A p.Arg622Gln missense ACTN3 3 82210 3.64919E-5 41105 0 5.62095E-5
11-66328107-G-A p.Ala624Thr missense ACTN3 4 82214 4.86535E-5 41107 0 1.59276E-4
11-66328113-A-G p.Met626Val missense ACTN3 1 82250 1.21581E-5 41125 0 4.01342E-6
11-66328116-G-A p.Gly627Ser missense ACTN3 1 82248 1.21584E-5 41124 0 NA
11-66328117-G-A p.Gly627Asp missense ACTN3 1 82254 1.21575E-5 41127 0 NA
11-66328122-C-T p.Gln629* stop_gained ACTN3 3 82272 3.64644E-5 41136 0 6.36902E-5
11-66328125-G-A p.Gly630Ser missense ACTN3 1 82280 1.21536E-5 41140 0 NA
11-66328133-C-T p.Ile632Ile synonymous ACTN3 1 82310 1.21492E-5 41155 0 NA
11-66328134-CAGA-C p.Lys634del disruptive_inframe_deletion ACTN3 5 82320 6.07386E-5 41160 0 2.00634E-5
11-66328150-C-T p.Thr638Met missense ACTN3 14 82342 1.70023E-4 41171 0 9.55597E-5
11-66328150-C-A p.Thr638Lys missense ACTN3 10 82342 1.21445E-4 41171 0 0.00125
11-66328151-G-C p.Thr638Thr synonymous ACTN3 5 82348 6.07179E-5 41174 0 4.01239E-5
11-66328152-T-C p.Tyr639His missense ACTN3 3 82350 3.64299E-5 41175 0 3.18735E-5
11-66328161-C-T p.Arg642Trp missense ACTN3 4 82344 4.85767E-5 41172 0 6.63229E-5
11-66328162-G-A p.Arg642Gln missense ACTN3 1 82338 1.21451E-5 41169 0 7.4612E-5
11-66328165-C-A p.Pro643His missense ACTN3 1 82358 1.21421E-5 41179 0 NA
11-66328180-C-A p.Pro648His missense ACTN3 1 82376 1.21395E-5 41188 0 NA
11-66328189-C-T p.Thr651Ile missense ACTN3 1 82372 1.214E-5 41186 0 NA
11-66328190-C-T p.Thr651Thr synonymous ACTN3 1 82372 1.214E-5 41186 0 3.18715E-5
11-66328191-C-T p.Leu652Phe missense ACTN3 1 82368 1.21406E-5 41184 0 NA
11-66328198-C-T p.Pro654Leu missense ACTN3 1 82348 1.21436E-5 41174 0 4.19611E-5
11-66328199-G-A p.Pro654Pro synonymous ACTN3 288 82348 0.00349735 41174 3 0.00805639
11-66328221-G-A p.Asp662Asn missense ACTN3 3 82282 3.646E-5 41141 0 5.95086E-5
11-66328229-C-T c.1989+3C>T splice_region ACTN3 3 82248 3.64751E-5 41124 0 NA
11-66328690-C-G c.1990-8C>G splice_region ACTN3 1 80262 1.24592E-5 40131 0 NA
11-66328701-C-T p.Arg665* stop_gained ACTN3 18 80504 2.23591E-4 40252 0 0.00192061
11-66328702-G-A p.Arg665Gln missense ACTN3 9 80562 1.11715E-4 40281 0 0.00304569
11-66328719-T-C p.Cys671Arg missense ACTN3 45393 79854 0.56845 39927 13266 0.658736
11-66328720-G-A p.Cys671Tyr missense ACTN3 1 81024 1.2342E-5 40512 0 3.18451E-5
11-66328734-CAGG-C p.Glu678del conservative_inframe_deletion ACTN3 1 81234 1.23101E-5 40617 0 3.18451E-5
11-66328741-A-C p.Glu678Ala missense ACTN3 12711 81084 0.156763 40542 1077 0.182568
11-66328741-A-T p.Glu678Val missense ACTN3 8 81320 9.83768E-5 40660 0 2.55118E-4
11-66328754-G-C p.Gln682His missense ACTN3 1 81470 1.22745E-5 40735 0 4.23406E-6
11-66328763-C-T p.Asn685Asn synonymous ACTN3 8 81528 9.81258E-5 40764 0 5.06586E-4
11-66328764-G-A p.Glu686Lys missense ACTN3 10 81550 1.22624E-4 40775 0 0.00125
11-66328773-C-T p.Arg689Trp missense ACTN3 7 81594 8.57906E-5 40797 0 3.34998E-4
11-66328774-G-A p.Arg689Gln missense ACTN3 10 81592 1.22561E-4 40796 0 3.22352E-5
11-66328776-C-T p.Arg690* stop_gained ACTN3 3 81586 3.6771E-5 40793 0 4.2757E-5
11-66328777-G-A p.Arg690Gln missense ACTN3 1 81602 1.22546E-5 40801 0 1.64853E-5
11-66328779-C-T p.Gln691* stop_gained ACTN3 3 81628 3.67521E-5 40814 0 4.11479E-6
11-66328783-T-C p.Phe692Ser missense ACTN3 1 81662 1.22456E-5 40831 0 1.23159E-5
11-66328786-C-T p.Ala693Val missense ACTN3 3 81650 3.67422E-5 40825 0 0.00353893
11-66328787-G-A p.Ala693Ala synonymous ACTN3 5 81654 6.1234E-5 40827 0 3.69501E-5
11-66328788-G-T p.Ala694Ser missense ACTN3 1 81676 1.22435E-5 40838 0 NA
11-66328802-C-A p.Ala698Ala synonymous ACTN3 2 81748 2.44654E-5 40874 0 NA
11-66328803-A-G p.Ile699Val missense ACTN3 27 81740 3.30316E-4 40870 0 6.25E-4
11-66328804-T-C p.Ile699Thr missense ACTN3 1 81742 1.22336E-5 40871 0 3.91926E-5
11-66328811-C-CTGGA p.Ile703fs frameshift ACTN3 1 81772 1.22291E-5 40886 0 2.91053E-5
11-66328823-G-A p.Ala705Ala synonymous ACTN3 2 81756 2.4463E-5 40878 0 NA
11-66328824-A-C p.Lys706Gln missense ACTN3 2 81724 2.44726E-5 40862 0 NA
11-66328921-C-T c.2125-8C>T splice_region ACTN3 1 81594 1.22558E-5 40797 0 4.55876E-6
11-66328926-C-A c.2125-3C>A splice_region ACTN3 1 81592 1.22561E-5 40796 0 3.18552E-5
11-66328926-C-T c.2125-3C>T splice_region ACTN3 1 81592 1.22561E-5 40796 0 NA
11-66328934-G-A p.Val710Val synonymous ACTN3 1 81642 1.22486E-5 40821 0 NA
11-66328939-G-A p.Arg712Gln missense ACTN3 12 81626 1.47012E-4 40813 0 1.59307E-4
11-66328951-G-A p.Gly716Glu missense ACTN3 1 81686 1.2242E-5 40843 0 1.34719E-5
11-66328968-GAG-AAA p.Glu722Lys missense ACTN3 1 81746 1.2233E-5 40873 0 NA
11-66328970-G-A p.Glu722Glu synonymous ACTN3 1 81764 1.22303E-5 40882 0 1.84027E-4
11-66328979-G-A p.Met725Ile missense ACTN3 5 81796 6.11277E-5 40898 0 3.18613E-5
11-66328986-C-T p.Leu728Leu synonymous ACTN3 3 81788 3.66802E-5 40894 0 3.18796E-5
11-66328990-G-A p.Arg729Gln missense ACTN3 4 81816 4.88902E-5 40908 0 4.9807E-5
11-66329003-G-A p.Gln733Gln synonymous ACTN3 1 81870 1.22145E-5 40935 0 NA
11-66329009-T-C p.Ile735Ile synonymous ACTN3 1 81918 1.22073E-5 40959 0 NA
11-66329014-A-G p.Asn737Ser missense ACTN3 2 81920 2.44141E-5 40960 0 5.05561E-4
11-66329018-C-T p.Tyr738Tyr synonymous ACTN3 5 81936 6.10232E-5 40968 0 1.63642E-5
11-66329023-C-G p.Thr740Ser missense ACTN3 1 81966 1.22002E-5 40983 0 NA
11-66329024-T-C p.Thr740Thr synonymous ACTN3 70 81966 8.54013E-4 40983 2 0.00707071
11-66329029-T-C p.Ile742Thr missense ACTN3 26 81976 3.17166E-4 40988 0 1.9104E-4
11-66329032-AC-A p.Arg744fs frameshift ACTN3 1 81948 1.22029E-5 40974 0 1.0239E-5
11-66329034-C-T p.Arg744Trp missense ACTN3 2 81952 2.44045E-5 40976 0 3.18695E-5
11-66329035-G-A p.Arg744Gln missense ACTN3 1 81958 1.22014E-5 40979 0 3.18715E-5
11-66329038-T-C p.Leu745Pro missense ACTN3 16 81956 1.95227E-4 40978 0 0.0010101
11-66329038-T-G p.Leu745Arg missense ACTN3 1 81956 1.22017E-5 40978 0 NA
11-66329043-G-A p.Gly747Ser missense ACTN3 1 81908 1.22088E-5 40954 0 2.99497E-5
11-66329045-T-C p.Gly747Gly synonymous ACTN3 2 81836 2.44391E-5 40918 1 NA
11-66329049-C-T p.His749Tyr missense ACTN3 2 81894 2.44218E-5 40947 0 NA
11-66329057-G-C p.Leu751Leu synonymous ACTN3 6 81894 7.32654E-5 40947 0 9.55657E-5
11-66329059-TGCA-T p.Gln753del conservative_inframe_deletion ACTN3 3 81894 3.66327E-5 40947 0 4.05416E-6
11-66329067-A-G p.Ser755Gly missense ACTN3 1 81816 1.22225E-5 40908 0 9.81894E-6
11-66329078-C-T p.Phe758Phe synonymous ACTN3 1 81720 1.22369E-5 40860 0 2.97909E-5
11-66329078-C-G p.Phe758Leu missense ACTN3 1 81720 1.22369E-5 40860 0 6.25E-4
11-66329079-G-A p.Asp759Asn missense ACTN3 2 81736 2.4469E-5 40868 0 5.94919E-5
11-66329086-A-G p.Lys761Arg missense ACTN3 1 81650 1.22474E-5 40825 0 NA
11-66329093-C-A p.Thr763Thr synonymous ACTN3 4 81426 4.91244E-5 40713 0 6.1376E-5
11-66329093-C-T p.Thr763Thr synonymous ACTN3 3 81426 3.68433E-5 40713 0 3.1711E-4
11-66329094-G-A p.Val764Ile missense ACTN3 4 81360 4.91642E-5 40680 0 7.17272E-5
11-66329099-C-T p.Tyr765Tyr synonymous ACTN3 2 81200 2.46305E-5 40600 0 5.04541E-4
11-66329487-C-T c.2305-6C>T splice_region ACTN3 6 81630 7.35024E-5 40815 0 1.888E-5
11-66329488-G-A c.2305-5G>A splice_region ACTN3 59 81606 7.22986E-4 40803 0 3.12098E-4
11-66329488-G-T c.2305-5G>T splice_region ACTN3 1 81606 1.2254E-5 40803 0 5.50762E-5
11-66329499-C-T p.Arg771Cys missense ACTN3 6 81870 7.32869E-5 40935 0 6.25E-4
11-66329500-G-A p.Arg771His missense ACTN3 8 81854 9.7735E-5 40927 0 6.25E-4
11-66329501-C-T p.Arg771Arg synonymous ACTN3 2 81904 2.44188E-5 40952 0 2.23542E-4
11-66329507-C-T p.Gly773Gly synonymous ACTN3 2 82074 2.43683E-5 41037 0 3.19346E-5
11-66329513-G-A p.Glu775Glu synonymous ACTN3 1 82152 1.21726E-5 41076 0 NA
11-66329535-C-T p.Arg783Cys missense ACTN3 1 82418 1.21333E-5 41209 0 5.78994E-5
11-66329536-G-A p.Arg783His missense ACTN3 4 82406 4.85402E-5 41203 0 6.69459E-5
11-66329537-C-T p.Arg783Arg synonymous ACTN3 1 82420 1.2133E-5 41210 0 1.8874E-5
11-66329545-A-G p.Asn786Ser missense ACTN3 3 82494 3.63663E-5 41247 0 3.19081E-5
11-66329546-T-C p.Asn786Asn synonymous ACTN3 2 82506 2.42407E-5 41253 0 NA
11-66329549-A-C p.Glu787Asp missense ACTN3 7 82536 8.48115E-5 41268 0 1.24316E-4
11-66329550-G-A p.Val788Met missense ACTN3 1 82552 1.21136E-5 41276 0 NA
11-66329572-G-A p.Arg795Gln missense ACTN3 3 82600 3.63196E-5 41300 0 6.25E-4
11-66329576-C-T p.Asp796Asp synonymous ACTN3 2 82636 2.42025E-5 41318 0 1.27502E-4
11-66329577-G-A p.Ala797Thr missense ACTN3 3 82646 3.62994E-5 41323 0 1.59382E-5
11-66329592-CAG-C p.Gln802fs frameshift ACTN3 1 82686 1.20939E-5 41343 0 NA
11-66329599-A-G p.Gln804Arg missense ACTN3 1 82688 1.20937E-5 41344 0 NA
11-66329607-G-A p.Glu807Lys missense ACTN3 1 82662 1.20975E-5 41331 0 3.98486E-6
11-66329613-C-T p.Arg809* stop_gained ACTN3 3 82678 3.62853E-5 41339 0 1.59481E-5
11-66329615-A-G p.Arg809Arg synonymous ACTN3 1 82670 1.20963E-5 41335 0 NA
11-66329628-C-T p.His814Tyr missense ACTN3 1 82654 1.20986E-5 41327 0 NA
11-66329636-C-A p.Asp816Glu missense ACTN3 2 82668 2.41932E-5 41334 0 8.28775E-6
11-66329638-G-A p.Arg817Lys missense+splice_region ACTN3 1 82672 1.2096E-5 41336 0 8.28761E-6
11-66329639-G-A p.Arg817Arg splice_region+synonymous ACTN3 10527 82508 0.127588 41254 809 0.13625
11-66329721-C-G c.2452-7C>G splice_region ACTN3 2 82486 2.42465E-5 41243 0 8.01983E-6
11-66329721-C-A c.2452-7C>A splice_region ACTN3 2 82486 2.42465E-5 41243 0 3.19305E-5
11-66329722-C-T c.2452-6C>T splice_region ACTN3 2 82464 2.4253E-5 41232 0 NA
11-66329724-A-G c.2452-4A>G splice_region ACTN3 1 82458 1.21274E-5 41229 0 NA
11-66329731-C-T p.Gln819* stop_gained ACTN3 2 82416 2.42671E-5 41208 0 6.25E-4
11-66329732-A-G p.Gln819Arg missense ACTN3 44001 79330 0.554658 39665 12378 0.647686
11-66329747-A-C p.Glu824Ala missense ACTN3 4 82256 4.86287E-5 41128 0 3.19346E-5
11-66329752-G-T p.Asp826Tyr missense ACTN3 3 82150 3.65186E-5 41075 0 3.32491E-5
11-66329759-T-A p.Phe828Tyr missense ACTN3 4 81956 4.88067E-5 40978 0 7.22822E-5
11-66329762-G-A p.Arg829Gln missense ACTN3 210 81750 0.00256881 40875 3 0.00692937
11-66329771-T-C p.Leu832Pro missense ACTN3 1 81342 1.22938E-5 40671 0 NA
11-66329783-G-T p.Gly836Val missense ACTN3 1 80458 1.24288E-5 40229 0 8.33625E-6
11-66329792-T-C p.Leu839Pro missense+splice_region ACTN3 1 79662 1.2553E-5 39831 0 NA
11-66329796-GAGA-G c.2517+4_2517+6delAGA splice_region ACTN3 8 79160 1.01061E-4 39580 0 8.46194E-5
11-66330264-C-A c.2518-3C>A splice_region ACTN3 6 81496 7.36232E-5 40748 0 9.57243E-5
11-66330267-G-A p.Gly840Arg missense+splice_region ACTN3 3 81630 3.67512E-5 40815 0 1.23687E-5
11-66330275-G-A p.Val842Val synonymous ACTN3 95 81870 0.00116038 40935 0 9.5761E-4
11-66330278-G-C p.Glu843Asp missense ACTN3 2 81966 2.44004E-5 40983 0 4.06481E-6
11-66330283-C-T p.Ala845Val missense ACTN3 2 82098 2.43611E-5 41049 0 NA
11-66330285-C-T p.Arg846Cys missense ACTN3 3 82128 3.65283E-5 41064 0 2.71369E-4
11-66330286-G-A p.Arg846His missense ACTN3 1 82130 1.21758E-5 41065 0 3.19305E-5
11-66330308-C-T p.Pro853Pro synonymous ACTN3 3 82396 3.64095E-5 41198 0 6.66733E-5
11-66330310-A-G p.Asn854Ser missense ACTN3 3 82406 3.64051E-5 41203 0 6.65413E-5
11-66330311-C-T p.Asn854Asn synonymous ACTN3 2 82414 2.42677E-5 41207 0 3.19163E-5
11-66330312-G-A p.Ala855Thr missense ACTN3 5 82410 6.06722E-5 41205 0 1.49541E-4
11-66330315-G-T p.Ala856Ser missense ACTN3 1 82420 1.2133E-5 41210 0 3.99875E-6
11-66330326-G-C p.Val859Val synonymous ACTN3 1 82464 1.21265E-5 41232 0 NA
11-66330326-G-A p.Val859Val synonymous ACTN3 1 82464 1.21265E-5 41232 0 1.24133E-4
11-66330331-TC-T p.Gln862fs frameshift ACTN3 1 82470 1.21256E-5 41235 0 8.27308E-6
11-66330333-C-CA p.Ala863fs frameshift ACTN3 1 82484 1.21236E-5 41242 0 NA
11-66330338-C-A p.Ala863Ala synonymous ACTN3 1 82482 1.21239E-5 41241 0 NA
11-66330343-T-C p.Ile865Thr missense ACTN3 1 82476 1.21247E-5 41238 0 NA
11-66330353-G-C p.Met868Ile missense ACTN3 1 82438 1.21303E-5 41219 0 NA
11-66330356-C-T p.Thr869Thr synonymous ACTN3 3 82422 3.63981E-5 41211 0 NA
11-66330358-G-A p.Arg870Gln missense ACTN3 2 82442 2.42595E-5 41221 0 NA
11-66330362-GAC-G p.Thr872fs frameshift ACTN3 1 82442 1.21297E-5 41221 0 4.00058E-6
11-66330370-A-G p.Glu874Gly missense ACTN3 1 82464 1.21265E-5 41232 0 NA
11-66330379-C-T p.Thr877Met missense ACTN3 33 82454 4.00223E-4 41227 0 6.38325E-4
11-66330380-G-A p.Thr877Thr synonymous ACTN3 3 82458 3.63822E-5 41229 0 5.60835E-5
11-66330380-G-T p.Thr877Thr synonymous ACTN3 1 82458 1.21274E-5 41229 0 NA
11-66330386-G-A p.Glu879Glu synonymous ACTN3 4 82452 4.85131E-5 41226 1 NA
11-66330387-C-T p.Gln880* stop_gained ACTN3 2 82448 2.42577E-5 41224 0 NA
11-66330389-A-G p.Gln880Gln synonymous ACTN3 1 82450 1.21286E-5 41225 0 NA
11-66330401-C-T p.Ser884Ser synonymous ACTN3 2 82424 2.42648E-5 41212 0 8.3414E-6
11-66330411-T-C p.Leu888Leu synonymous ACTN3 5 82418 6.06664E-5 41209 0 4.17885E-5
11-66330413-G-A p.Leu888Leu synonymous ACTN3 1 82414 1.21339E-5 41207 0 NA
11-66330414-G-A p.Ala889Thr missense ACTN3 1 82398 1.21362E-5 41199 0 NA
11-66330428-G-A c.2676+3G>A splice_region ACTN3 1 82362 1.21415E-5 41181 0 8.38715E-6
11-66330515-A-AC p.Glu898fs frameshift ACTN3 1 81974 1.2199E-5 40987 0 NA
11-66330515-A-G p.Thr896Ala missense ACTN3 4 81974 4.8796E-5 40987 0 NA
11-66330520-C-T p.Pro897Pro synonymous ACTN3 1 82002 1.21948E-5 41001 0 3.19163E-5
11-66330521-G-A p.Glu898Lys missense ACTN3 26 82010 3.17035E-4 41005 0 1.65416E-4
11-66330521-G-C p.Glu898Gln missense ACTN3 3 82012 3.658E-5 41006 0 8.39913E-6
11-66330524-GA-TT p.Glu899Leu missense ACTN3 276 81998 0.00336594 40999 2 NA
11-66330524-G-T p.Glu899* stop_gained ACTN3 11 81998 1.3415E-4 40999 1 0.00805639
11-66330525-A-T p.Glu899Val missense ACTN3 11 81972 1.34192E-4 40986 1 0.00805639
11-66330526-G-A p.Glu899Glu synonymous ACTN3 1 81978 1.21984E-5 40989 0 NA
11-66330530-C-T p.Arg901Trp missense ACTN3 3 81942 3.66113E-5 40971 0 9.57426E-5
11-66330531-G-A p.Arg901Gln missense ACTN3 1 81966 1.22002E-5 40983 0 2.82231E-5
11-66330531-G-C p.Arg901Pro missense ACTN3 1 81966 1.22002E-5 40983 0 4.03187E-6
11-66330533-C-T p.Arg902Cys missense ACTN3 1045 81896 0.0127601 40948 11 0.0377644
11-66330534-G-A p.Arg902His missense ACTN3 1 81900 1.221E-5 40950 0 2.0154E-5
11-66330535-C-T p.Arg902Arg synonymous ACTN3 2 81884 2.44248E-5 40942 0 NA
11-66330536-G-A p.Glu903Lys missense ACTN3 6 81922 7.32404E-5 40961 0 2.01545E-5
11-66330538-G-C p.Glu903Asp missense ACTN3 1 81906 1.22091E-5 40953 0 4.02953E-6
11-66330547-C-T p.Ala906Ala synonymous ACTN3 1 82018 1.21924E-5 41009 0 0.00100705
11-66330556-C-T p.Ala909Ala synonymous ACTN3 3 82004 3.65836E-5 41002 0 9.5706E-5
11-66330557-G-A p.Glu910Lys missense ACTN3 1 82024 1.21916E-5 41012 0 6.68259E-5
11-66330558-A-C p.Glu910Ala missense ACTN3 1 82016 1.21927E-5 41008 0 5.03525E-4
11-66330563-T-C p.Cys912Arg missense ACTN3 2 82056 2.43736E-5 41028 0 3.19163E-5
11-66330569-C-T p.Arg914Cys missense ACTN3 95 82206 0.00115563 41103 1 8.72467E-4
11-66330570-G-A p.Arg914His missense ACTN3 1 82194 1.21663E-5 41097 0 4.82455E-5
11-66330572-C-T p.Arg915Cys missense ACTN3 2 82228 2.43226E-5 41114 0 9.64824E-5
11-66330580-G-A p.Val917Val synonymous ACTN3 1 82258 1.21569E-5 41129 0 4.01974E-6
11-66330582-C-T p.Pro918Leu missense ACTN3 1 82266 1.21557E-5 41133 0 NA
11-66330586-C-T p.Tyr919Tyr synonymous ACTN3 1 82268 1.21554E-5 41134 0 NA
11-66330595-C-T p.Ser922Ser synonymous ACTN3 2 82274 2.4309E-5 41137 0 1.60879E-5
11-66330596-G-A p.Gly923Arg missense ACTN3 3 82278 3.64618E-5 41139 0 6.37836E-5
11-66330599-G-T p.Ala924Ser missense ACTN3 104 82266 0.00126419 41133 0 0.00352823
11-66330600-C-T p.Ala924Val missense ACTN3 5 82264 6.07799E-5 41132 0 8.34683E-5
11-66330603-C-T p.Pro925Leu missense ACTN3 2 82282 2.43067E-5 41141 0 1.67017E-5
11-66330604-G-A p.Pro925Pro synonymous ACTN3 4 82280 4.86145E-5 41140 0 1.67003E-5
11-66330612-C-T p.Ala928Val missense ACTN3 2 82258 2.43137E-5 41129 0 6.68796E-5
11-66330621-A-G p.Tyr931Cys missense ACTN3 1 82278 1.21539E-5 41139 0 NA
11-66330622-C-T p.Tyr931Tyr synonymous ACTN3 12 82268 1.45865E-4 41134 0 5.39361E-4
11-66330623-G-A p.Val932Met missense ACTN3 2 82248 2.43167E-5 41124 0 6.37349E-5
11-66330641-C-T p.Leu938Phe missense ACTN3 19 82226 2.3107E-4 41113 0 6.3857E-4
11-66330642-T-G p.Leu938Arg missense ACTN3 1 82210 1.2164E-5 41105 0 NA
11-66330645-A-G p.Tyr939Cys missense ACTN3 3 82170 3.65097E-5 41085 0 8.4894E-6
11-66330656-G-A p.Asp943Asn missense ACTN3 1 81978 1.21984E-5 40989 0 2.56722E-5
11-66330659-C-T p.Leu944Phe missense ACTN3 5 81920 6.10352E-5 40960 0 5.03525E-4
11-66330795-G-A c.*131G>A splice_region ACTN3 1 55954 1.78718E-5 27977 0 NA
11-66330800-T-C c.*136T>C splice_region ACTN3 12 53242 2.25386E-4 26621 0 3.82604E-4