Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-4711155-T-A c.*1821A>T splice_region AK3 31 35996 8.61207E-4 17998 0 0.00159236
9-4711157-G-T c.*1819C>A splice_region AK3 1 36100 2.77008E-5 18050 0 1.27356E-4
9-4712981-G-A p.Pro157Ser missense AK3 1 82016 1.21927E-5 41008 0 3.98254E-6
9-4712987-C-T p.Val155Ile missense AK3 1 82086 1.21823E-5 41043 0 4.12072E-5
9-4712992-G-A p.Ala153Val missense AK3 1 82162 1.21711E-5 41081 0 1.19431E-5
9-4713004-C-G p.Arg149Thr missense AK3 1 82256 1.21572E-5 41128 0 7.96026E-6
9-4713011-G-C p.Pro147Ala missense AK3 1 82288 1.21524E-5 41144 0 NA
9-4713019-G-C p.Thr144Ser missense AK3 3 82342 3.64334E-5 41171 0 1.59179E-5
9-4713020-T-G p.Thr144Pro missense AK3 1 82352 1.2143E-5 41176 0 NA
9-4713031-G-A p.Ala140Val missense AK3 1 82418 1.21333E-5 41209 0 NA
9-4713033-A-G p.Tyr139Tyr synonymous AK3 1 82434 1.21309E-5 41217 0 8.23859E-6
9-4713035-A-G p.Tyr139His missense AK3 1 82448 1.21289E-5 41224 0 NA
9-4713036-T-C p.Val138Val synonymous AK3 6 82452 7.27696E-5 41226 0 3.58084E-5
9-4713043-G-C p.Pro136Arg missense AK3 3 82492 3.63672E-5 41246 0 6.25E-4
9-4713064-G-A p.Thr129Ile missense AK3 2 82608 2.42107E-5 41304 0 NA
9-4713068-C-T p.Gly128Arg missense AK3 4 82592 4.84308E-5 41296 0 3.29587E-5
9-4713081-C-T p.Leu123Leu synonymous AK3 2 82646 2.41996E-5 41323 0 3.18634E-5
9-4713084-C-T p.Val122Val synonymous AK3 1 82630 1.21021E-5 41315 0 8.24416E-6
9-4713087-C-A p.Gly121Gly synonymous AK3 16 82612 1.93676E-4 41306 0 4.1425E-4
9-4713087-C-T p.Gly121Gly synonymous AK3 3 82610 3.63152E-5 41305 0 3.9821E-6
9-4713088-C-A p.Gly121Val missense AK3 2 82600 2.42131E-5 41300 0 6.25E-4
9-4713089-C-CT p.Gly121fs frameshift AK3 3 82612 3.63143E-5 41306 1 NA
9-4713096-C-G p.Gln118His missense+splice_region AK3 10 82594 1.21074E-4 41297 0 3.18796E-5
9-4713099-A-T c.354-3T>A splice_region AK3 1 82572 1.21106E-5 41286 0 NA
9-4718416-C-T c.353+3G>A splice_region AK3 1 81840 1.2219E-5 40920 0 NA
9-4718417-A-G c.353+2T>C splice_donor AK3 6 81888 7.32708E-5 40944 0 3.18492E-5
9-4718433-G-T p.Val113Val synonymous AK3 1 82356 1.21424E-5 41178 0 NA
9-4718434-A-G p.Val113Ala missense AK3 2 82422 2.42654E-5 41211 0 NA
9-4718440-T-G p.Lys111Thr missense AK3 146 82590 0.00176777 41295 0 0.00420329
9-4718443-G-A p.Thr110Ile missense AK3 1 82654 1.20986E-5 41327 0 1.64791E-5
9-4718446-T-C p.Gln109Arg missense AK3 2 82712 2.41803E-5 41356 0 8.23927E-6
9-4718450-C-A p.Asp108Tyr missense AK3 1 82810 1.20758E-5 41405 0 3.98321E-6
9-4718451-T-C p.Glu107Glu synonymous AK3 1 82822 1.20741E-5 41411 0 NA
9-4718460-C-A p.Lys104Asn missense AK3 1 82950 1.20555E-5 41475 0 3.29587E-5
9-4718460-C-CT p.Ala105fs frameshift AK3 1 82950 1.20555E-5 41475 0 NA
9-4718467-C-T p.Arg102Lys missense AK3 1 82994 1.20491E-5 41497 0 NA
9-4718469-C-T p.Lys101Lys synonymous AK3 1 83006 1.20473E-5 41503 0 NA
9-4718472-G-C p.Ile100Met missense AK3 2 83014 2.40923E-5 41507 0 3.98302E-6
9-4718478-C-T p.Thr98Thr synonymous AK3 10 83056 1.20401E-4 41528 0 1.91131E-4
9-4718479-G-A p.Thr98Met missense AK3 1 83052 1.20406E-5 41526 0 4.94413E-5
9-4718486-G-T p.Pro96Thr missense AK3 1 83050 1.20409E-5 41525 0 3.18613E-5
9-4718494-T-C p.Asp93Gly missense AK3 1 83030 1.20438E-5 41515 0 NA
9-4718498-C-G p.Glu92Gln missense AK3 4 83042 4.81684E-5 41521 0 1.59337E-5
9-4718500-C-T p.Arg91His missense AK3 12 83040 1.44509E-4 41520 0 9.55597E-5
9-4718504-G-A p.Gln90* stop_gained AK3 6 83024 7.22683E-5 41512 0 9.55475E-5
9-4718506-A-G p.Ile89Thr missense AK3 1 83008 1.2047E-5 41504 0 1.64845E-5
9-4718514-C-T p.Glu86Glu synonymous AK3 3 82994 3.61472E-5 41497 0 2.3904E-5
9-4718518-C-G p.Gly85Ala missense AK3 1 82970 1.20525E-5 41485 0 3.98486E-6
9-4718529-A-G p.Asp81Asp synonymous AK3 6 82902 7.23746E-5 41451 0 1.91071E-4
9-4718530-T-C p.Asp81Gly missense AK3 1 82884 1.20651E-5 41442 0 3.98699E-6
9-4718544-A-C c.235-7T>G splice_region AK3 1 82732 1.20872E-5 41366 0 NA
9-4719127-C-G c.234+8G>C splice_region AK3 1 80790 1.23778E-5 40395 0 NA
9-4719132-C-T c.234+3G>A splice_region AK3 2 80814 2.47482E-5 40407 0 NA
9-4719134-CCA-C p.Val78fs frameshift AK3 2 80822 2.47457E-5 40411 0 3.18674E-5
9-4719150-G-C p.Asn73Lys missense AK3 1 80886 1.23631E-5 40443 0 9.56084E-5
9-4719160-A-C p.Ile70Ser missense AK3 1 80886 1.23631E-5 40443 0 1.64821E-5
9-4719161-T-A p.Ile70Phe missense AK3 143 80876 0.00176814 40438 2 0.00376036
9-4719161-T-C p.Ile70Val missense AK3 3 80880 3.7092E-5 40440 0 3.18674E-5
9-4719166-T-C p.Tyr68Cys missense AK3 1 80894 1.23619E-5 40447 0 7.96578E-6
9-4719174-G-GC p.Arg66fs frameshift AK3 1 80910 1.23594E-5 40455 0 1.64777E-5
9-4719182-C-A p.Ala63Ser missense AK3 10 80916 1.23585E-4 40458 0 3.13428E-4
9-4719182-C-T p.Ala63Thr missense AK3 1 80916 1.23585E-5 40458 0 3.18824E-5
9-4719183-G-A p.Pro62Pro synonymous AK3 1 80910 1.23594E-5 40455 0 5.77329E-5
9-4719185-G-A p.Pro62Ser missense AK3 1 80912 1.23591E-5 40456 0 NA
9-4719196-C-A p.Arg58Leu missense AK3 2 80898 2.47225E-5 40449 0 NA
9-4719196-C-T p.Arg58His missense AK3 1 80898 1.23612E-5 40449 0 1.19489E-5
9-4719197-G-A p.Arg58Cys missense AK3 1 80912 1.23591E-5 40456 0 1.59316E-5
9-4719197-G-C p.Arg58Gly missense AK3 1 80912 1.23591E-5 40456 0 3.18715E-5
9-4719208-C-T p.Arg54His missense AK3 2 80962 2.47029E-5 40481 0 8.23778E-6
9-4719208-C-A p.Arg54Leu missense AK3 1 80962 1.23515E-5 40481 0 NA
9-4719209-G-A p.Arg54Cys missense AK3 2 80974 2.46993E-5 40487 0 3.18776E-5
9-4719210-T-C p.Gln53Gln synonymous AK3 2 80974 2.46993E-5 40487 0 1.64753E-5
9-4719219-G-A p.Val50Val synonymous AK3 26 81052 3.20782E-4 40526 0 7.33278E-4
9-4719225-A-C p.Phe48Leu missense AK3 1 81112 1.23286E-5 40556 0 3.18898E-5
9-4719228-G-A p.Pro47Pro synonymous AK3 1 81128 1.23262E-5 40564 0 NA
9-4719235-T-C p.Asn45Ser missense AK3 1 81172 1.23195E-5 40586 0 3.18837E-5
9-4719237-C-T p.Leu44Leu synonymous AK3 1 81182 1.2318E-5 40591 0 NA
9-4719239-G-C p.Leu44Val missense AK3 1 81186 1.23174E-5 40593 0 NA
9-4719240-G-A p.Asn43Asn synonymous AK3 1 81186 1.23174E-5 40593 0 NA
9-4719241-T-G p.Asn43Thr missense AK3 1 81212 1.23135E-5 40606 0 3.19285E-5
9-4719248-C-T p.Val41Met missense AK3 3 81244 3.69258E-5 40622 0 NA
9-4719258-C-A p.Gln37His missense AK3 2 81324 2.4593E-5 40662 0 NA
9-4719272-C-G p.Asp33His missense AK3 2 81376 2.45773E-5 40688 0 NA
9-4719273-T-C p.Leu32Leu synonymous AK3 1 81376 1.22886E-5 40688 0 NA
9-4719276-G-T p.Ala31Ala synonymous AK3 4 81376 4.91545E-5 40688 0 NA
9-4719278-C-T p.Ala31Thr missense AK3 1 81376 1.22886E-5 40688 0 NA
9-4719282-T-C p.Ala29Ala synonymous AK3 2 81388 2.45736E-5 40694 0 2.78973E-5
9-4719288-T-C p.Pro27Pro synonymous AK3 1 81350 1.22926E-5 40675 0 NA
9-4719293-G-A p.Leu26Phe missense AK3 1 81282 1.23028E-5 40641 0 6.41272E-5
9-4719302-GA-G p.Pro23fs frameshift AK3 1 81044 1.2339E-5 40522 0 3.41763E-5
9-4719307-C-T p.Gly21Asp missense+splice_region AK3 1 80878 1.23643E-5 40439 0 3.28062E-5
9-4719309-T-C c.62-2A>G splice_acceptor AK3 1 80756 1.2383E-5 40378 0 NA
9-4719312-A-C c.62-5T>G splice_region AK3 2 80488 2.48484E-5 40244 0 NA
9-4719314-A-G c.62-7T>C splice_region AK3 1 80000 1.25E-5 40000 0 NA
9-4719315-A-T c.62-8T>A splice_region AK3 1 79942 1.25091E-5 39971 0 4.19115E-6
9-4722499-C-A c.61+7G>T splice_region AK3 1 83268 1.20094E-5 41634 0 NA
9-4722513-C-T p.Leu18Leu synonymous AK3 2 83312 2.40061E-5 41656 0 3.97877E-6
9-4722519-G-C p.Ser16Arg missense AK3 1 83314 1.20028E-5 41657 0 1.19349E-5
9-4722523-T-C p.Tyr15Cys missense AK3 1 83312 1.20031E-5 41656 0 NA
9-4722526-T-C p.Gln14Arg missense AK3 4 83312 4.80123E-5 41656 0 0.00100908
9-4722527-G-A p.Gln14* stop_gained AK3 3 83308 3.60109E-5 41654 0 8.23832E-6
9-4722534-A-AT p.Asn11fs frameshift AK3 1 83296 1.20054E-5 41648 0 NA
9-4722549-A-G p.Leu6Leu synonymous AK3 1 83312 1.20031E-5 41656 0 NA
9-4722551-G-A p.Leu6Phe missense AK3 1 83310 1.20034E-5 41655 0 NA
9-4722553-GC-G p.Ala5fs frameshift AK3 2 83308 2.40073E-5 41654 0 8.23845E-6
9-4722554-C-T p.Ala5Thr missense AK3 6 83302 7.20271E-5 41651 0 4.94315E-5
9-4722559-C-T p.Arg3Gln missense AK3 2 83306 2.40079E-5 41653 0 8.23764E-6
9-4722560-G-A p.Arg3Trp missense AK3 17 83306 2.04067E-4 41653 0 0.00251762
9-4722574-T-A p.Asp68Val missense AK3 12 83322 1.4402E-4 41661 0 1.90916E-4
9-4722577-G-A p.Pro67Leu missense AK3 35 83318 4.20077E-4 41659 0 2.26716E-4
9-4722581-T-G p.Ile66Leu missense AK3 1 83334 1.19999E-5 41667 0 NA
9-4722599-T-A p.Ile60Phe missense AK3 4 83328 4.80031E-5 41664 0 8.239E-6
9-4722600-G-C p.Phe59Leu missense AK3 1 83328 1.20008E-5 41664 0 3.97766E-6
9-4722606-C-T p.Lys57Lys synonymous AK3 1 83336 1.19996E-5 41668 0 NA
9-4722611-C-T p.Ala56Thr missense AK3 1 83322 1.20016E-5 41661 0 NA
9-4722617-C-T p.Val54Met missense AK3 1 83328 1.20008E-5 41664 0 3.29647E-5
9-4722627-T-TTAATTTAAA c.-59-3_-59-2insTTTAAATTA splice_region AK3 1 83318 1.20022E-5 41659 0 NA
9-4722628-A-G c.-59-3T>C splice_region AK3 1 83308 1.20036E-5 41654 0 NA
9-4722629-C-T c.-59-4G>A splice_region AK3 1 83306 1.20039E-5 41653 0 3.97902E-6
9-4740930-C-T c.151+7G>A splice_region AK3 2 78162 2.55879E-5 39081 0 8.24215E-5
9-4740935-A-G c.151+2T>C splice_donor AK3 1 78262 1.27776E-5 39131 0 NA
9-4740937-C-T p.Glu51Lys missense+splice_region AK3 1 78338 1.27652E-5 39169 0 5.03596E-6
9-4740944-C-T p.Arg48Arg synonymous AK3 1 78430 1.27502E-5 39215 0 NA
9-4740947-C-T p.Leu47Leu synonymous AK3 1 78508 1.27376E-5 39254 0 NA
9-4740950-C-T p.Met46Ile missense AK3 1 78518 1.27359E-5 39259 0 NA
9-4740961-G-A p.Arg43Trp missense AK3 1 78630 1.27178E-5 39315 0 3.43069E-5
9-4740962-G-C p.Leu42Leu synonymous AK3 207 78638 0.00263232 39319 1 0.00561618
9-4740962-G-T p.Leu42Leu synonymous AK3 5 78642 6.35793E-5 39321 0 3.42263E-4
9-4740963-A-G p.Leu42Pro missense AK3 1 78644 1.27155E-5 39322 0 NA
9-4740967-G-C p.Leu41Val missense AK3 2 78684 2.54181E-5 39342 0 1.14861E-5
9-4740978-G-A p.Ser37Phe missense AK3 2 78686 2.54175E-5 39343 0 1.16943E-5
9-4740979-A-C p.Ser37Ala missense AK3 1 78690 1.27081E-5 39345 0 NA
9-4740980-G-A p.Leu36Leu synonymous AK3 1 78704 1.27058E-5 39352 0 9.17835E-6
9-4740981-A-G p.Leu36Pro missense AK3 1 78680 1.27097E-5 39340 0 NA
9-4740993-T-C p.Glu32Gly missense AK3 1 78670 1.27113E-5 39335 0 4.51839E-6
9-4740994-C-A p.Glu32* stop_gained AK3 2 78656 2.54272E-5 39328 0 1.80794E-5
9-4740995-G-C p.Phe31Leu missense AK3 1 78646 1.27152E-5 39323 0 NA
9-4741009-T-C p.Ile27Val missense AK3 1 78592 1.27239E-5 39296 0 4.57381E-6
9-4741012-G-A p.Arg26Cys missense AK3 3 78562 3.81864E-5 39281 0 1.48223E-5
9-4741019-C-G p.Val23Val synonymous AK3 3 78502 3.82156E-5 39251 0 NA
9-4741020-A-T p.Val23Glu missense AK3 1 78472 1.27434E-5 39236 0 NA
9-4741021-C-A p.Val23Leu missense AK3 2 78468 2.54881E-5 39234 0 2.85649E-5
9-4741021-C-T p.Val23Met missense AK3 1 78468 1.2744E-5 39234 0 NA
9-4741031-G-A p.Gly19Gly synonymous AK3 1 78338 1.27652E-5 39169 0 5.04821E-6
9-4741032-C-T p.Gly19Asp missense AK3 1 78326 1.27672E-5 39163 0 NA
9-4741035-G-A p.Ser18Leu missense AK3 1 78296 1.2772E-5 39148 0 NA
9-4741036-A-G p.Ser18Pro missense AK3 1 78290 1.2773E-5 39145 0 1.03427E-5
9-4741036-A-T p.Ser18Thr missense AK3 1 78290 1.2773E-5 39145 0 NA
9-4741037-G-A p.Gly17Gly synonymous AK3 1 78266 1.27769E-5 39133 0 5.22646E-6
9-4741037-G-C p.Gly17Gly synonymous AK3 4 78266 5.11078E-5 39133 0 NA
9-4741040-C-G p.Pro16Pro synonymous AK3 1 78264 1.27773E-5 39132 0 5.29964E-6
9-4741042-G-A p.Pro16Ser missense AK3 2 78212 2.55715E-5 39106 0 9.57977E-5
9-4741044-G-GCC p.Ala15fs frameshift AK3 1 78142 1.27972E-5 39071 0 NA
9-4741049-C-G p.Met13Ile missense AK3 12 78130 1.5359E-4 39065 0 1.59541E-4
9-4741054-T-A p.Ile12Phe missense AK3 2 78022 2.56338E-5 39011 0 NA
9-4741055-C-T p.Val11Val synonymous AK3 1 78010 1.28189E-5 39005 0 NA
9-4741055-C-G p.Val11Val synonymous AK3 1 78010 1.28189E-5 39005 0 NA
9-4741059-G-C p.Ala10Gly missense AK3 1 77938 1.28307E-5 38969 0 1.20208E-5
9-4741059-G-A p.Ala10Val missense AK3 1 77938 1.28307E-5 38969 0 NA
9-4741072-G-C p.Arg6Gly missense AK3 3 77700 3.861E-5 38850 0 NA
9-4741075-C-T p.Ala5Thr missense AK3 58 77612 7.47307E-4 38806 1 0.00357873
9-4741075-C-A p.Ala5Ser missense AK3 4 77614 5.15371E-5 38807 0 2.29762E-4
9-4741076-G-A p.Ser4Ser synonymous AK3 1 77602 1.28863E-5 38801 0 NA
9-4741077-G-C p.Ser4Cys missense AK3 1 77596 1.28873E-5 38798 0 6.82119E-6
9-4741081-C-T p.Ala3Thr missense AK3 4 77436 5.16556E-5 38718 0 4.38597E-5
9-4741081-C-A p.Ala3Ser missense AK3 1 77436 1.29139E-5 38718 0 NA
9-4741082-C-T p.Gly2Gly synonymous AK3 1 77436 1.29139E-5 38718 0 7.20285E-6
9-4741084-C-G p.Gly2Arg missense AK3 1 77396 1.29206E-5 38698 0 3.63853E-5
9-4741085-C-T p.Met1? start_lost AK3 1 77382 1.29229E-5 38691 0 7.33009E-6
9-4741156-G-A c.-69C>T 5_prime_UTR_premature_start_codon_gain AK3 1 67928 1.47215E-5 33964 0 NA
9-4741160-G-A c.-73C>T 5_prime_UTR_premature_start_codon_gain AK3 1 67254 1.4869E-5 33627 0 NA
9-4741163-T-A c.-76A>T 5_prime_UTR_premature_start_codon_gain AK3 3 66864 4.48672E-5 33432 0 2.24158E-4
9-4741188-T-C c.-101A>G 5_prime_UTR_premature_start_codon_gain AK3 1 62662 1.59586E-5 31331 0 NA
9-4741193-G-A c.-106C>T 5_prime_UTR_premature_start_codon_gain AK3 3 61594 4.8706E-5 30797 0 9.60369E-5
9-4741205-G-A c.-118C>T 5_prime_UTR_premature_start_codon_gain AK3 1 57780 1.7307E-5 28890 0 NA
9-4741223-G-C c.-136C>G 5_prime_UTR_premature_start_codon_gain AK3 1 51762 1.93192E-5 25881 0 NA
9-4741254-G-A c.-167C>T 5_prime_UTR_premature_start_codon_gain AK3 1 38052 2.62798E-5 19026 0 NA