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Gene: AK7

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-96858492-A-G p.Met1? start_lost AK7 1 79594 1.25638E-5 39797 0 8.32293E-6
14-96858493-T-A p.Met1? start_lost AK7 2 79680 2.51004E-5 39840 0 3.18674E-5
14-96858493-T-C p.Met1? start_lost AK7 1 79680 1.25502E-5 39840 0 NA
14-96858503-AGAG-A p.Glu6del disruptive_inframe_deletion AK7 1 80048 1.24925E-5 40024 0 NA
14-96858521-C-T p.Leu10Leu synonymous AK7 2 80278 2.49134E-5 40139 0 6.37105E-5
14-96858524-G-C p.Thr11Thr synonymous AK7 3 80290 3.73646E-5 40145 0 NA
14-96858527-G-A p.Glu12Glu synonymous AK7 1 80338 1.24474E-5 40169 0 NA
14-96858542-C-A p.Thr17Thr synonymous AK7 302 80348 0.00375865 40174 4 0.00888988
14-96858545-G-A p.Gln18Gln synonymous AK7 1 80370 1.24425E-5 40185 0 1.65459E-5
14-96858557-A-C p.Ile22Ile synonymous AK7 1 80294 1.24542E-5 40147 0 NA
14-96858579-A-G p.Ser30Gly missense AK7 1 79948 1.25081E-5 39974 0 4.99143E-5
14-96858590-C-A p.Ile33Ile synonymous AK7 1 79778 1.25348E-5 39889 0 9.55901E-5
14-96858591-G-C p.Gly34Arg missense AK7 1 79718 1.25442E-5 39859 0 8.40407E-6
14-96858599-G-GAGCGGC c.105+3_105+4insAGCGGC splice_region AK7 1 79508 1.25774E-5 39754 0 1.99947E-4
14-96858600-A-AGCGGCG c.105+4_105+5insGCGGCG splice_region AK7 2 79424 2.51813E-5 39712 0 8.54161E-6
14-96858600-A-AGCG c.105+4_105+5insGCG splice_region AK7 1 79424 1.25907E-5 39712 0 NA
14-96858603-G-A c.105+7G>A splice_region AK7 2 79288 2.52245E-5 39644 0 4.42243E-5
14-96864404-C-T c.106-8C>T splice_region AK7 2 80892 2.47243E-5 40446 0 NA
14-96864431-T-A p.Val42Asp missense AK7 2 80998 2.4692E-5 40499 0 NA
14-96864440-C-T p.Ser45Leu missense AK7 2 81002 2.46907E-5 40501 0 3.2963E-5
14-96864441-G-A p.Ser45Ser synonymous AK7 4 80998 4.93839E-5 40499 0 3.1837E-5
14-96864455-CAGAGGAAGAGGA-C p.Glu53_Glu56del disruptive_inframe_deletion AK7 52 81022 6.41801E-4 40511 0 5.73139E-4
14-96864455-CAGAGGA-C p.Glu55_Glu56del disruptive_inframe_deletion AK7 3 81022 3.7027E-5 40511 0 1.27364E-4
14-96864455-C-CAGAGGA p.Glu55_Glu56dup disruptive_inframe_insertion AK7 1 81022 1.23423E-5 40511 0 6.36821E-5
14-96864457-G-A p.Glu51Lys missense AK7 2 81014 2.46871E-5 40507 0 7.95488E-6
14-96864459-G-A p.Glu51Glu synonymous AK7 2 81014 2.46871E-5 40507 0 3.1837E-5
14-96864465-G-C p.Glu53Asp missense AK7 2 81020 2.46853E-5 40510 0 3.97703E-6
14-96864474-A-G p.Glu56Glu synonymous AK7 4 81024 4.93681E-5 40512 0 3.1837E-5
14-96864490-G-A p.Ala62Thr missense AK7 2 81010 2.46883E-5 40505 0 1.64737E-5
14-96864491-C-T p.Ala62Val missense AK7 1 81006 1.23448E-5 40503 0 3.97643E-6
14-96864504-T-G p.Ala66Ala synonymous AK7 10 81010 1.23442E-4 40505 0 0.0020141
14-96864507-C-T p.Ser67Ser synonymous AK7 2 81016 2.46865E-5 40508 0 3.97649E-6
14-96864511-A-T p.Thr69Ser missense AK7 5 81004 6.17253E-5 40502 0 1.59175E-4
14-96864529-A-C p.Thr75Pro missense AK7 12 80980 1.48185E-4 40490 0 5.03525E-4
14-96864531-A-G p.Thr75Thr synonymous AK7 2 80978 2.46981E-5 40489 0 NA
14-96864539-T-C p.Ile78Thr missense AK7 3 80974 3.70489E-5 40487 0 2.38588E-5
14-96864539-T-G p.Ile78Ser missense AK7 1 80974 1.23496E-5 40487 0 NA
14-96864545-G-A p.Gly80Asp missense AK7 3 80972 3.70498E-5 40486 0 3.97681E-6
14-96864548-C-T p.Thr81Met missense AK7 8 80964 9.88093E-5 40482 0 9.94218E-5
14-96864549-G-A p.Thr81Thr synonymous AK7 4 80958 4.94083E-5 40479 0 2.47141E-5
14-96864554-C-G p.Ser83Cys missense AK7 1 80940 1.23548E-5 40470 0 6.25E-4
14-96864570-G-A p.Pro88Pro synonymous AK7 2 80880 2.4728E-5 40440 0 3.18532E-5
14-96864571-C-T p.Arg89Trp missense AK7 1 80872 1.23652E-5 40436 0 4.94397E-5
14-96864572-G-T p.Arg89Leu missense AK7 1 80854 1.2368E-5 40427 0 NA
14-96864572-G-A p.Arg89Gln missense AK7 1 80854 1.2368E-5 40427 0 8.23995E-6
14-96864574-C-T p.Pro90Ser missense AK7 1 80844 1.23695E-5 40422 0 3.29614E-5
14-96864579-C-T p.Asp91Asp synonymous AK7 2 80820 2.47464E-5 40410 0 1.64845E-5
14-96864583-G-A p.Ala93Thr missense AK7 1 80772 1.23805E-5 40386 0 3.97937E-6
14-96864584-C-T p.Ala93Val missense AK7 4 80750 4.95356E-5 40375 0 3.29745E-5
14-96864585-G-C p.Ala93Ala synonymous AK7 4 80740 4.95417E-5 40370 0 1.64883E-5
14-96864585-G-A p.Ala93Ala synonymous AK7 5 80740 6.19272E-5 40370 0 5.03525E-4
14-96864591-G-C p.Glu95Asp missense AK7 2 80668 2.4793E-5 40334 0 1.59219E-5
14-96864594-G-A p.Thr96Thr synonymous AK7 6 80582 7.44583E-5 40291 0 2.54826E-4
14-96864598-T-C p.Ser98Pro missense+splice_region AK7 1 80524 1.24187E-5 40262 0 3.18573E-5
14-96864609-C-T p.Pro101Pro synonymous AK7 2 80280 2.49128E-5 40140 0 9.09061E-5
14-96864616-T-C p.Ser104Pro missense AK7 3 80156 3.7427E-5 40078 0 5.1806E-5
14-96871090-T-C c.295-4T>C splice_region AK7 1 79918 1.25128E-5 39959 0 6.36983E-5
14-96871097-A-C p.Ile100Leu missense AK7 1 80190 1.24704E-5 40095 0 NA
14-96871104-G-A p.Arg102Gln missense AK7 19052 79628 0.239263 39814 2335 0.22624
14-96871107-A-C p.Glu103Ala missense AK7 2 80416 2.48707E-5 40208 0 NA
14-96871109-G-T p.Asp104Tyr missense AK7 5 80430 6.21659E-5 40215 0 1.59327E-4
14-96871121-C-A p.Arg108Ser missense AK7 1 80502 1.24221E-5 40251 0 8.24416E-6
14-96871121-C-T p.Arg108Cys missense AK7 1 80502 1.24221E-5 40251 0 1.64883E-5
14-96871122-G-A p.Arg108His missense AK7 4 80508 4.96845E-5 40254 0 0.00101937
14-96871138-T-C p.Asp113Asp synonymous AK7 1 80578 1.24103E-5 40289 0 8.24348E-6
14-96871145-A-G p.Ile116Val missense AK7 1 80560 1.24131E-5 40280 0 6.25E-4
14-96871147-T-C p.Ile116Ile synonymous AK7 3 80592 3.72245E-5 40296 0 2.47292E-5
14-96871154-A-C p.Ile119Leu missense AK7 1 80526 1.24183E-5 40263 0 2.47292E-5
14-96871155-T-C p.Ile119Thr missense AK7 1 80508 1.24211E-5 40254 0 NA
14-96871179-A-C p.Glu127Ala missense AK7 1 80444 1.2431E-5 40222 0 3.18532E-5
14-96871187-A-T p.Ile130Phe missense AK7 1 80384 1.24403E-5 40192 0 NA
14-96871201-T-C p.Ser134Ser splice_region+synonymous AK7 4 80134 4.99164E-5 40067 0 1.19467E-5
14-96871208-T-C c.403+6T>C splice_region AK7 2 79958 2.50131E-5 39979 0 NA
14-96871209-G-A c.403+7G>A splice_region AK7 2 79922 2.50244E-5 39961 0 NA
14-96875176-C-T c.404-8C>T splice_region AK7 2 81016 2.46865E-5 40508 0 9.57488E-5
14-96875178-C-G c.404-6C>G splice_region AK7 2 81028 2.46828E-5 40514 0 NA
14-96875178-C-T c.404-6C>T splice_region AK7 1 81028 1.23414E-5 40514 0 NA
14-96875206-C-T p.His142His synonymous AK7 2 81070 2.467E-5 40535 0 3.18309E-5
14-96875215-G-A p.Lys145Lys synonymous AK7 1 81072 1.23347E-5 40536 0 1.98831E-5
14-96875224-A-ATT p.Ile150fs frameshift AK7 1 81072 1.23347E-5 40536 0 NA
14-96875235-T-C p.Leu152Pro missense AK7 27 81068 3.33054E-4 40534 0 0.00108232
14-96875245-G-T p.Val155Val synonymous AK7 1 81078 1.23338E-5 40539 0 NA
14-96875247-T-C p.Met156Thr missense AK7 2 81074 2.46688E-5 40537 0 NA
14-96875262-C-T p.Ser161Phe missense AK7 1 81060 1.23365E-5 40530 0 NA
14-96875275-C-T p.Asp165Asp synonymous AK7 1 81038 1.23399E-5 40519 0 NA
14-96875278-C-T p.Pro166Pro splice_region+synonymous AK7 1 81036 1.23402E-5 40518 0 3.18532E-5
14-96875279-G-A c.498+1G>A splice_donor AK7 3 81034 3.70215E-5 40517 0 2.48369E-5
14-96875285-A-T c.498+7A>T splice_region AK7 4 81030 4.93644E-5 40515 0 4.38509E-5
14-96875286-G-A c.498+8G>A splice_region AK7 20 81028 2.46828E-4 40514 0 1.15509E-4
14-96875286-G-C c.498+8G>C splice_region AK7 3 81028 3.70242E-5 40514 0 6.3674E-5
14-96887151-T-C c.499-8T>C splice_region AK7 169 79968 0.00211335 39984 1 0.00496847
14-96887154-A-G c.499-5A>G splice_region AK7 4 80116 4.99276E-5 40058 0 9.55353E-5
14-96887155-A-G c.499-4A>G splice_region AK7 1 80156 1.24757E-5 40078 0 NA
14-96887167-T-C p.Ser169Ser synonymous AK7 51 80416 6.34202E-4 40208 1 4.54687E-4
14-96887189-G-C p.Asp177His missense AK7 1 80566 1.24122E-5 40283 0 NA
14-96887196-G-A p.Arg179Gln missense AK7 1 80576 1.24106E-5 40288 0 8.24974E-6
14-96887227-C-A p.Asp189Glu missense AK7 1 80612 1.24051E-5 40306 0 3.98099E-6
14-96887228-C-T p.His190Tyr missense AK7 7 80618 8.68292E-5 40309 0 3.98222E-6
14-96887235-A-G p.Asn192Ser missense AK7 1 80552 1.24143E-5 40276 0 3.18471E-5
14-96887248-G-T p.Met196Ile missense AK7 4 80502 4.96882E-5 40251 0 3.18492E-5
14-96887256-A-G p.Lys199Arg missense AK7 5 80418 6.21751E-5 40209 0 3.34471E-4
14-96887268-AG-A p.Phe200fs frameshift AK7 1 80228 1.24645E-5 40114 0 4.38548E-5
14-96904164-T-C c.610-8T>C splice_region AK7 1 80028 1.24956E-5 40014 0 4.11218E-6
14-96904185-C-A p.Ala208Glu missense AK7 1 80374 1.24418E-5 40187 0 NA
14-96904193-G-A p.Val211Ile missense AK7 1 80432 1.24329E-5 40216 0 1.32481E-4
14-96904196-G-T p.Val212Phe missense AK7 1 80498 1.24227E-5 40249 0 1.65788E-5
14-96904201-T-C p.Ala213Ala synonymous AK7 1 80570 1.24116E-5 40285 0 8.28157E-6
14-96904204-T-G p.Ala214Ala synonymous AK7 1 80586 1.24091E-5 40293 0 NA
14-96904210-C-T p.Leu216Leu synonymous AK7 2 80608 2.48114E-5 40304 0 NA
14-96904219-A-G p.Gly219Gly synonymous AK7 1 80606 1.2406E-5 40303 0 NA
14-96904221-C-T p.Ala220Val missense AK7 43 80588 5.33578E-4 40294 0 6.85542E-4
14-96904222-G-A p.Ala220Ala synonymous AK7 15 80596 1.86113E-4 40298 0 3.50341E-4
14-96904229-G-A p.Gly223Ser missense AK7 1 80606 1.2406E-5 40303 0 NA
14-96904232-A-G p.Met224Val missense AK7 1 80586 1.24091E-5 40293 0 3.18431E-5
14-96904243-A-T p.Thr227Thr synonymous AK7 27 80518 3.35329E-4 40259 0 4.46059E-4
14-96909063-T-G c.691-4T>G splice_region AK7 1 80654 1.23986E-5 40327 0 NA
14-96909081-C-T p.Gly235Gly synonymous AK7 2 80802 2.47519E-5 40401 0 3.97649E-5
14-96909082-G-A p.Glu236Lys missense AK7 3 80810 3.71241E-5 40405 0 1.27397E-4
14-96909100-G-A p.Val242Ile missense AK7 1 80858 1.23674E-5 40429 0 NA
14-96909108-C-T p.Gly244Gly synonymous AK7 1 80830 1.23716E-5 40415 0 NA
14-96909108-C-A p.Gly244Gly synonymous AK7 1 80830 1.23716E-5 40415 0 8.23655E-6
14-96909109-G-A p.Asp245Asn missense AK7 1 80842 1.23698E-5 40421 0 1.64731E-5
14-96909109-G-T p.Asp245Tyr missense AK7 1 80842 1.23698E-5 40421 0 NA
14-96909125-T-C p.Ile250Thr missense AK7 1 80784 1.23787E-5 40392 0 NA
14-96909151-G-C p.Ala259Pro missense AK7 2 80678 2.47899E-5 40339 0 7.95444E-6
14-96909158-A-G c.779+3A>G splice_region AK7 2 80620 2.48077E-5 40310 0 9.55414E-5
14-96912860-A-G p.Ile262Met missense AK7 1 80994 1.23466E-5 40497 0 8.23778E-6
14-96912866-C-T p.Asn264Asn synonymous AK7 1 80992 1.23469E-5 40496 0 6.37227E-5
14-96912867-G-T p.Val265Phe missense AK7 2 80996 2.46926E-5 40498 0 3.29506E-5
14-96912867-G-A p.Val265Ile missense AK7 2 80996 2.46926E-5 40498 0 0.001875
14-96912870-A-G p.Ile266Val missense AK7 10 81010 1.23442E-4 40505 0 6.25E-4
14-96912878-C-T p.His268His synonymous AK7 2 81022 2.46847E-5 40511 0 1.19299E-5
14-96912892-A-G p.His273Arg missense AK7 9 81030 1.1107E-4 40515 0 4.77951E-4
14-96912912-G-A p.Glu280Lys missense AK7 1 81014 1.23435E-5 40507 0 1.19294E-5
14-96912917-T-C p.Ser281Ser synonymous AK7 2 81008 2.46889E-5 40504 0 NA
14-96912937-T-C p.Ile288Thr missense AK7 1 80966 1.23509E-5 40483 0 6.37064E-5
14-96912940-T-G p.Val289Gly missense AK7 1 80966 1.23509E-5 40483 0 NA
14-96912950-G-A c.870+6G>A splice_region AK7 1 80942 1.23545E-5 40471 0 2.47321E-5
14-96912951-T-C c.870+7T>C splice_region AK7 1 80936 1.23554E-5 40468 0 1.64878E-5
14-96916141-T-C p.Cys291Cys splice_region+synonymous AK7 2 80474 2.48527E-5 40237 0 2.9779E-5
14-96916152-A-C p.Asn295Thr missense AK7 1 80594 1.24079E-5 40297 0 NA
14-96916163-G-C p.Gly299Arg missense AK7 1 80610 1.24054E-5 40305 0 NA
14-96916164-G-A p.Gly299Glu missense AK7 2 80606 2.4812E-5 40303 1 4.02739E-6
14-96916165-G-A p.Gly299Gly synonymous AK7 31 80604 3.84596E-4 40302 0 2.25472E-4
14-96916195-A-G p.Ala309Ala synonymous AK7 4 80536 4.96672E-5 40268 0 3.21647E-5
14-96916204-C-T p.Thr312Thr synonymous AK7 1 80506 1.24214E-5 40253 0 9.09041E-6
14-96916215-C-T p.Thr316Met missense+splice_region AK7 1 80044 1.24931E-5 40022 0 3.69379E-5
14-96916220-A-C c.948+4A>C splice_region AK7 1 80116 1.24819E-5 40058 0 9.82511E-6
14-96917758-C-G p.Gln317Glu missense+splice_region AK7 2 79900 2.50313E-5 39950 0 1.71857E-5
14-96917764-T-C p.Cys319Arg missense AK7 1 79934 1.25103E-5 39967 0 3.1837E-5
14-96917765-G-A p.Cys319Tyr missense AK7 1 80102 1.24841E-5 40051 0 6.37105E-5
14-96917779-C-T p.Leu324Leu synonymous AK7 2 80164 2.49489E-5 40082 0 6.25E-4
14-96917791-A-G p.Arg328Gly missense AK7 1 80382 1.24406E-5 40191 0 4.22883E-6
14-96917801-C-T p.Ala331Val missense AK7 6 80494 7.45397E-5 40247 0 1.65695E-5
14-96917802-G-A p.Ala331Ala synonymous AK7 4 80498 4.96907E-5 40249 0 2.48386E-4
14-96917805-C-G p.Leu332Leu synonymous AK7 1 80546 1.24153E-5 40273 0 8.27499E-6
14-96917809-G-A p.Val334Met missense AK7 1 80512 1.24205E-5 40256 0 3.18471E-5
14-96917816-A-C p.Glu336Ala missense AK7 1 80526 1.24183E-5 40263 0 NA
14-96917825-A-G p.Asn339Ser missense AK7 2 80690 2.47862E-5 40345 0 6.36943E-5
14-96917828-T-C p.Ile340Thr missense AK7 3 80686 3.71812E-5 40343 0 NA
14-96917830-C-T p.Arg341* stop_gained AK7 1 80674 1.23956E-5 40337 0 3.18512E-5
14-96917831-G-A p.Arg341Gln missense AK7 4 80654 4.95946E-5 40327 0 6.36943E-5
14-96917867-A-C p.Asn353Thr missense AK7 1 80528 1.2418E-5 40264 0 5.03525E-4
14-96917868-C-T p.Asn353Asn synonymous AK7 1 80500 1.24224E-5 40250 0 NA
14-96917871-T-C p.Thr354Thr synonymous AK7 1 80332 1.24483E-5 40166 0 8.27705E-5
14-96917877-C-T p.Leu356Leu synonymous AK7 13 80150 1.62196E-4 40075 0 7.47471E-5
14-96917880-G-A p.Lys357Lys synonymous AK7 15 80140 1.87172E-4 40070 0 6.25E-4
14-96917885-A-G p.Tyr359Cys missense AK7 1 79542 1.2572E-5 39771 0 NA
14-96917886-C-A p.Tyr359* stop_gained AK7 1 79538 1.25726E-5 39769 0 NA
14-96917887-A-G p.Lys360Glu missense AK7 80 79516 0.00100609 39758 0 0.00175137
14-96917902-T-C p.Leu365Leu synonymous AK7 1 78408 1.27538E-5 39204 0 4.76095E-6
14-96917905-A-T p.Met366Leu missense+splice_region AK7 1 78294 1.27724E-5 39147 0 4.84308E-6
14-96917913-T-C c.1098+6T>C splice_region AK7 1 77736 1.28641E-5 38868 0 2.5425E-5
14-96922687-A-T p.Ile368Phe missense AK7 1 80936 1.23554E-5 40468 0 NA
14-96922708-C-T p.Pro375Ser missense AK7 1 80966 1.23509E-5 40483 0 2.78563E-5
14-96922728-C-A p.Ser381Ser synonymous AK7 1 80986 1.23478E-5 40493 0 NA
14-96922729-A-G p.Ser382Gly missense AK7 1 80976 1.23493E-5 40488 0 3.29674E-5
14-96922738-A-G p.Lys385Glu missense AK7 1008 80972 0.0124487 40486 39 0.0270839
14-96922745-T-C p.Leu387Ser missense AK7 1 81006 1.23448E-5 40503 0 3.97697E-6
14-96922750-A-G p.Asn389Asp missense AK7 1 81006 1.23448E-5 40503 0 3.97719E-6
14-96922751-A-G p.Asn389Ser missense AK7 1 81008 1.23445E-5 40504 0 3.18552E-5
14-96922752-C-G p.Asn389Lys missense AK7 69579 80782 0.861318 40391 30108 0.903827
14-96922758-C-T p.Tyr391Tyr synonymous AK7 2 80986 2.46956E-5 40493 0 NA
14-96922759-A-G p.Lys392Glu missense AK7 1 80988 1.23475E-5 40494 0 NA
14-96922766-A-G p.His394Arg missense AK7 71 80990 8.76651E-4 40495 1 0.00288355
14-96922771-A-G p.Ile396Val missense AK7 4 80986 4.93913E-5 40493 0 3.18532E-5
14-96922783-G-A p.Asp400Asn missense AK7 2 80964 2.47023E-5 40482 0 3.98153E-6
14-96922810-C-T p.Leu409Leu splice_region+synonymous AK7 3 80886 3.70892E-5 40443 0 4.96623E-5
14-96924413-T-C c.1228-7T>C splice_region AK7 2 77472 2.58158E-5 38736 0 NA
14-96924425-G-A p.Ala411Ala synonymous AK7 2 77636 2.57612E-5 38818 0 3.18735E-5
14-96924433-C-T p.Ala414Val missense AK7 1 77646 1.2879E-5 38823 0 4.02346E-6
14-96924440-C-T p.Asn416Asn synonymous AK7 5 77616 6.44197E-5 38808 0 3.21831E-5
14-96924441-G-A p.Asp417Asn missense AK7 3 77614 3.86528E-5 38807 0 1.65006E-5
14-96924447-G-A p.Gly419Arg missense AK7 4 77610 5.15398E-5 38805 0 3.30044E-5
14-96924454-GAGA-G p.Glu424del disruptive_inframe_deletion AK7 1 77526 1.28989E-5 38763 0 5.20833E-4
14-96924454-G-A p.Gly421Glu missense AK7 1 77526 1.28989E-5 38763 0 8.04751E-6
14-96924468-G-A p.Glu426Lys missense AK7 3 77286 3.88169E-5 38643 0 3.30458E-5
14-96924476-A-AGAGGAG p.Glu431_Glu432dup conservative_inframe_insertion AK7 1 77200 1.29534E-5 38600 0 NA
14-96924476-A-G p.Glu428Glu synonymous AK7 1 77200 1.29534E-5 38600 0 8.26282E-6
14-96924486-G-A p.Glu432Lys missense AK7 1 77068 1.29756E-5 38534 0 NA
14-96924503-A-G p.Ala437Ala synonymous AK7 13 76954 1.68932E-4 38477 0 4.77829E-4
14-96924510-C-T p.Leu440Phe missense AK7 1 76924 1.29998E-5 38462 0 NA
14-96924519-G-A p.Gly443Ser missense AK7 1 76886 1.30063E-5 38443 0 8.27349E-6
14-96924528-G-A p.Glu446Lys missense AK7 1 76908 1.30025E-5 38454 0 0.00125
14-96924532-G-T p.Ser447Ile missense AK7 2 76900 2.60078E-5 38450 0 1.61186E-5
14-96924534-A-G p.Met448Val missense AK7 2 76896 2.60092E-5 38448 0 8.28061E-6
14-96924548-A-G p.Ala452Ala splice_region+synonymous AK7 4 76748 5.21186E-5 38374 0 6.37227E-5
14-96937825-C-T p.Asp456Asp synonymous AK7 71 79084 8.9778E-4 39542 0 0.001664
14-96937826-G-A p.Asp457Asn missense AK7 1 79220 1.26231E-5 39610 0 6.40328E-5
14-96937843-A-G p.Arg462Arg synonymous AK7 1 79986 1.25022E-5 39993 0 NA
14-96937875-G-T p.Cys473Phe missense AK7 2 80346 2.48923E-5 40173 0 2.48221E-5
14-96937903-A-T p.Gly482Gly synonymous AK7 1 80434 1.24326E-5 40217 0 8.26078E-6
14-96937906-C-A p.Phe483Leu missense AK7 1 80426 1.24338E-5 40213 0 NA
14-96937908-C-T p.Pro484Leu missense AK7 5 80424 6.21705E-5 40212 0 NA
14-96937909-A-G p.Pro484Pro synonymous AK7 63 80426 7.83329E-4 40213 0 0.00139616
14-96937917-A-G p.Tyr487Cys missense AK7 6 80358 7.46659E-5 40179 0 1.72354E-5
14-96937933-C-T p.Asp492Asp synonymous AK7 3 80140 3.74345E-5 40070 0 1.66008E-5
14-96937938-T-A p.Phe494Tyr missense AK7 1 79770 1.2536E-5 39885 0 NA
14-96937941-A-G p.Asn495Ser missense+splice_region AK7 2 79606 2.51237E-5 39803 0 8.32737E-6
14-96939031-TGAG-T p.Glu502del disruptive_inframe_deletion AK7 6 80508 7.45268E-5 40254 0 7.9583E-6
14-96939059-A-G p.Arg508Gly missense AK7 2 80526 2.48367E-5 40263 0 3.18532E-5
14-96939062-A-G p.Met509Val missense AK7 1 80490 1.24239E-5 40245 0 NA
14-96939068-C-G p.Pro511Ala missense AK7 1 80498 1.24227E-5 40249 0 NA
14-96939095-A-G c.1555+3A>G splice_region AK7 1 80212 1.2467E-5 40106 0 5.09407E-5
14-96939098-T-C c.1555+6T>C splice_region AK7 1 80170 1.24735E-5 40085 0 NA
14-96944799-C-T c.1556-3C>T splice_region AK7 1 80420 1.24347E-5 40210 0 NA
14-96944807-G-A p.Val521Ile missense AK7 211 80434 0.00262327 40217 1 0.005
14-96944807-G-T p.Val521Phe missense AK7 3 80436 3.72967E-5 40218 0 8.2371E-6
14-96944809-T-C p.Val521Val synonymous AK7 2 80478 2.48515E-5 40239 0 8.23696E-6
14-96944812-T-A p.Cys522* stop_gained AK7 1 80486 1.24245E-5 40243 0 NA
14-96944826-C-T p.Ser527Leu missense AK7 2 80680 2.47893E-5 40340 0 6.25E-4
14-96944827-G-T p.Ser527Ser synonymous AK7 1 80734 1.23864E-5 40367 0 NA
14-96944827-G-A p.Ser527Ser synonymous AK7 2 80734 2.47727E-5 40367 0 3.18715E-5
14-96944830-T-A p.Asp528Glu missense AK7 2 80758 2.47653E-5 40379 0 NA
14-96944838-T-C p.Leu531Pro missense AK7 2 80896 2.47231E-5 40448 1 1.98883E-5
14-96944843-G-A p.Glu533Lys missense AK7 11 80990 1.35819E-4 40495 0 0.00100705
14-96944847-G-A p.Arg534His missense AK7 6 81022 7.4054E-5 40511 0 5.16997E-5
14-96944872-C-T p.Ile542Ile synonymous AK7 10 81078 1.23338E-4 40539 0 7.41278E-5
14-96944873-G-A p.Val543Met missense AK7 1 81078 1.23338E-5 40539 0 1.5906E-5
14-96944874-T-C p.Val543Ala missense AK7 1 81078 1.23338E-5 40539 0 NA
14-96944878-G-A p.Ala544Ala synonymous AK7 3486 81022 0.0430254 40511 80 0.0532093
14-96944878-G-C p.Ala544Ala synonymous AK7 1 81072 1.23347E-5 40536 0 3.97678E-6
14-96944900-C-T p.Arg552* stop_gained AK7 2 81076 2.46682E-5 40538 0 1.64737E-5
14-96944901-G-A p.Arg552Gln missense AK7 6 81076 7.40046E-5 40538 0 5.03525E-4
14-96944903-T-A p.Phe553Ile missense AK7 8 81074 9.86753E-5 40537 0 3.50252E-4
14-96944909-C-T p.Arg555Trp missense AK7 3 81070 3.70051E-5 40535 0 6.25E-4
14-96944910-G-C p.Arg555Pro missense AK7 2 81070 2.467E-5 40535 0 3.97671E-6
14-96944910-G-A p.Arg555Gln missense AK7 1 81070 1.2335E-5 40535 0 3.1839E-5
14-96944922-A-G p.Asn559Ser missense AK7 3 81064 3.70078E-5 40532 0 6.25E-4
14-96944927-C-T p.Arg561Trp missense AK7 1 81070 1.2335E-5 40535 0 6.25E-4
14-96944928-G-C p.Arg561Pro missense AK7 1 81072 1.23347E-5 40536 0 3.97655E-6
14-96944928-G-A p.Arg561Gln missense AK7 1 81072 1.23347E-5 40536 0 8.2371E-6
14-96944941-C-T p.Ile565Ile synonymous AK7 1 81070 1.2335E-5 40535 0 6.36862E-5
14-96944944-C-T p.Asp566Asp synonymous AK7 6 81068 7.40119E-5 40534 0 1.91071E-4
14-96944947-T-C p.Asp567Asp synonymous AK7 3 81064 3.70078E-5 40532 0 NA
14-96944952-C-A p.Thr569Asn missense AK7 2 81058 2.46737E-5 40529 0 6.36983E-5
14-96944953-T-C p.Thr569Thr synonymous AK7 1 81062 1.23362E-5 40531 0 3.97665E-6
14-96944955-T-C p.Val570Ala missense AK7 1 81060 1.23365E-5 40530 0 1.64818E-5
14-96944967-T-C p.Phe574Ser missense AK7 1 81034 1.23405E-5 40517 0 0.00100705
14-96944969-G-A p.Asp575Asn missense AK7 1 81026 1.23417E-5 40513 0 NA
14-96944973-A-G p.Glu576Gly missense AK7 2 81010 2.46883E-5 40505 0 NA
14-96944975-C-T p.Leu577Phe missense AK7 1 81016 1.23432E-5 40508 0 3.29935E-5
14-96944977-T-G p.Leu577Leu synonymous AK7 1 81004 1.23451E-5 40502 0 4.77236E-5
14-96944988-C-T p.Pro581Leu missense AK7 2 80964 2.47023E-5 40482 0 3.3066E-5
14-96944989-G-A p.Pro581Pro synonymous AK7 49 80942 6.05372E-4 40471 0 6.69131E-4
14-96944992-A-G p.Ile582Met missense AK7 1 80932 1.23561E-5 40466 0 8.2765E-6
14-96949324-T-C p.Leu2Pro missense AK7 1 80892 1.23622E-5 40446 0 1.66467E-5
14-96949330-T-G p.Phe4Cys missense AK7 1 80898 1.23612E-5 40449 0 NA
14-96949332-A-G p.Lys5Glu missense AK7 2 80914 2.47176E-5 40457 0 NA
14-96949353-G-A p.Asp591Asn missense AK7 2 80954 2.47054E-5 40477 0 NA
14-96949369-T-C p.Leu596Pro missense AK7 1 80968 1.23506E-5 40484 0 NA
14-96949399-G-C p.Gly606Ala missense AK7 1 80944 1.23542E-5 40472 0 NA
14-96949403-G-A p.Glu607Glu synonymous AK7 1 80946 1.23539E-5 40473 0 8.24266E-6
14-96949407-C-T p.Arg609* stop_gained AK7 2 80934 2.47115E-5 40467 0 8.24253E-6
14-96949408-G-A p.Arg609Gln missense AK7 1 80930 1.23564E-5 40465 0 4.1214E-5
14-96949414-A-G p.Tyr611Cys missense AK7 2 80926 2.47139E-5 40463 0 NA
14-96949415-T-C p.Tyr611Tyr synonymous AK7 1 80922 1.23576E-5 40461 0 NA
14-96949423-C-T p.Thr614Ile missense AK7 1 80908 1.23597E-5 40454 0 NA
14-96949427-C-A p.Asp615Glu missense AK7 5 80910 6.17971E-5 40455 0 3.1841E-5
14-96949427-C-T p.Asp615Asp synonymous AK7 5 80910 6.17971E-5 40455 0 5.77148E-5
14-96949428-G-A p.Glu616Lys missense AK7 10 80898 1.23612E-4 40449 0 2.90466E-4
14-96949434-A-C p.Lys618Gln missense AK7 1 80890 1.23625E-5 40445 0 8.2496E-6
14-96949447-A-G p.Glu622Gly missense AK7 3 80868 3.70975E-5 40434 0 NA
14-96949449-C-T p.Arg623Trp missense AK7 9 80846 1.11323E-4 40423 0 1.59266E-4
14-96949450-G-A p.Arg623Gln missense AK7 4 80850 4.94743E-5 40425 0 4.77688E-5
14-96949455-G-A p.Ala625Thr missense AK7 2 80828 2.47439E-5 40414 0 1.65931E-5
14-96949459-C-T p.Ala626Val missense AK7 4 80782 4.9516E-5 40391 0 2.38983E-5
14-96949460-G-A p.Ala626Ala synonymous AK7 3 80786 3.71351E-5 40393 0 6.25E-4
14-96949467-C-T p.Arg629Trp missense AK7 1 80760 1.23824E-5 40380 0 7.96787E-6
14-96949468-G-A p.Arg629Gln missense AK7 7 80762 8.66744E-5 40381 0 1.03597E-4
14-96949469-G-A p.Arg629Arg synonymous AK7 3 80750 3.71517E-5 40375 0 1.59422E-5
14-96949476-A-G p.Arg632Gly missense AK7 3 80716 3.71674E-5 40358 0 1.27495E-4
14-96949481-G-C p.Glu633Asp missense AK7 1 80686 1.23937E-5 40343 0 NA
14-96949487-T-G p.Ala635Ala synonymous AK7 1 80636 1.24014E-5 40318 0 8.68342E-6
14-96949489-A-C p.Glu636Ala missense AK7 1 80626 1.24029E-5 40313 0 1.99776E-5
14-96949490-G-A p.Glu636Glu synonymous AK7 1 80656 1.23983E-5 40328 0 NA
14-96949500-C-T p.Arg640Cys missense AK7 1 80522 1.2419E-5 40261 0 2.80831E-5
14-96949501-G-T p.Arg640Leu missense AK7 1 80492 1.24236E-5 40246 0 3.18756E-5
14-96949518-G-A p.Val646Met missense AK7 29 80348 3.6093E-4 40174 0 0.0015121
14-96949518-G-T p.Val646Leu missense AK7 1 80354 1.24449E-5 40177 0 NA
14-96949519-T-A p.Val646Glu missense AK7 1 80326 1.24493E-5 40163 0 1.06685E-5
14-96949521-G-A p.Glu647Lys missense AK7 1 80330 1.24486E-5 40165 0 NA
14-96949524-A-G p.Met648Val missense AK7 1 80262 1.24592E-5 40131 0 NA
14-96949535-G-T p.Lys651Asn missense AK7 1 79984 1.25025E-5 39992 0 0.00125156
14-96949542-C-T p.Arg654Cys missense AK7 2 79410 2.51857E-5 39705 0 1.38141E-5
14-96953237-T-A p.Asn659Lys missense+splice_region AK7 1 80920 1.23579E-5 40460 0 3.9867E-6
14-96953240-A-G p.Lys660Lys synonymous AK7 1 80944 1.23542E-5 40472 0 3.19224E-5
14-96953242-G-A p.Arg661Gln missense AK7 1 80946 1.23539E-5 40473 0 0.00100705
14-96953278-T-C p.Leu673Pro missense AK7 127 81022 0.00156748 40511 0 0.00167694
14-96953282-G-T p.Glu674Asp missense AK7 1 81020 1.23426E-5 40510 0 NA
14-96953284-C-T p.Ala675Val missense AK7 7 81024 8.63942E-5 40512 0 3.30278E-5
14-96953314-T-A p.Met685Lys missense AK7 2 81052 2.46755E-5 40526 0 3.97655E-6
14-96953316-A-C p.Thr686Pro missense AK7 1 81054 1.23375E-5 40527 0 NA
14-96953318-C-T p.Thr686Thr synonymous AK7 3 81054 3.70124E-5 40527 0 9.146E-5
14-96953330-A-G p.Pro690Pro synonymous AK7 1 81062 1.23362E-5 40531 0 5.76853E-5
14-96953335-T-G p.Leu692Arg missense AK7 6 81058 7.40211E-5 40529 0 8.24131E-6
14-96953344-G-A p.Gly695Asp missense AK7 2 81052 2.46755E-5 40526 0 NA
14-96953351-T-A p.Asn697Lys missense AK7 3 81052 3.70133E-5 40526 0 1.64823E-5
14-96953355-T-C p.Cys699Arg missense AK7 2 81052 2.46755E-5 40526 0 3.97665E-6
14-96953363-C-T p.Asn701Asn synonymous AK7 2 81034 2.4681E-5 40517 0 3.19264E-5
14-96953364-G-A p.Val702Ile missense AK7 35 81030 4.31939E-4 40515 0 1.94879E-4
14-96953367-C-T p.Arg703* stop_gained AK7 1 81032 1.23408E-5 40516 0 2.47325E-5
14-96953368-G-A p.Arg703Gln missense AK7 1 81030 1.23411E-5 40515 0 NA
14-96953372-C-T p.Pro704Pro synonymous AK7 1 81030 1.23411E-5 40515 0 3.9781E-6
14-96953398-CAT-C c.2133+6_2133+7delAT splice_region AK7 1 80996 1.23463E-5 40498 0 3.1998E-5
14-96954306-A-C p.Gln136His missense AK7 19 12642 0.00150293 6321 0 0.00172139
14-96954316-C-T p.Leu140Phe missense AK7 2 13720 1.45773E-4 6860 0 1.59276E-4
14-96954318-C-T p.Leu140Leu synonymous AK7 2 13926 1.43616E-4 6963 0 3.18634E-5
14-96954319-G-A p.Gly141Ser missense AK7 1 13274 7.53352E-5 6637 0 6.37877E-5
14-96954320-G-T p.Gly141Val missense AK7 1 14258 7.01361E-5 7129 0 NA
14-96954334-C-T p.Pro146Ser missense AK7 2 15878 1.2596E-4 7939 0 NA
14-96954342-C-T p.Pro148Pro synonymous AK7 1 16678 5.99592E-5 8339 0 5.48149E-5
14-96954342-C-G p.Pro148Pro synonymous AK7 1 16678 5.99592E-5 8339 0 1.0963E-5
14-96954640-A-G c.2134-2A>G splice_acceptor AK7 1 80350 1.24456E-5 40175 0 3.98594E-6
14-96954651-CTCT-C p.Phe716del conservative_inframe_deletion AK7 5 80434 6.21628E-5 40217 0 6.36943E-5
14-96954654-T-C p.Phe716Leu missense AK7 1 80462 1.24282E-5 40231 0 2.22942E-4
14-96954667-C-T p.Pro720Leu missense AK7 1 80452 1.24298E-5 40226 0 3.98121E-6
14-96954674-A-G p.Ala722Ala synonymous AK7 1 80432 1.24329E-5 40216 0 6.3674E-5
14-96954676-A-G p.Gln723Arg missense AK7 1 80416 1.24353E-5 40208 0 8.25491E-6



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