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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 81702 1.22396E-5 40851 0 8.32293E-6
14-96858493-T-A p.Met1? start_lost AK7 2 81794 2.44517E-5 40897 0 3.18674E-5
14-96858493-T-C p.Met1? start_lost AK7 1 81794 1.22258E-5 40897 0 NA
14-96858503-AGAG-A p.Glu6del disruptive_inframe_deletion AK7 1 82212 1.21637E-5 41106 0 NA
14-96858521-C-T p.Leu10Leu synonymous AK7 2 82474 2.42501E-5 41237 0 6.37105E-5
14-96858524-G-C p.Thr11Thr synonymous AK7 3 82488 3.63689E-5 41244 0 NA
14-96858527-G-A p.Glu12Glu synonymous AK7 1 82540 1.21153E-5 41270 0 NA
14-96858542-C-A p.Thr17Thr synonymous AK7 304 82560 0.00368217 41280 4 0.00888988
14-96858545-G-A p.Gln18Gln synonymous AK7 1 82586 1.21086E-5 41293 0 1.65459E-5
14-96858557-A-C p.Ile22Ile synonymous AK7 1 82506 1.21203E-5 41253 0 NA
14-96858579-A-G p.Ser30Gly missense AK7 1 82058 1.21865E-5 41029 0 4.99143E-5
14-96858590-C-A p.Ile33Ile synonymous AK7 1 81852 1.22172E-5 40926 0 9.55901E-5
14-96858591-G-C p.Gly34Arg missense AK7 1 81792 1.22261E-5 40896 0 8.40407E-6
14-96858599-G-GAGCGGC c.105+3_105+4insAGCGGC splice_region AK7 1 81560 1.22609E-5 40780 0 1.99947E-4
14-96858600-A-AGCGGCG c.105+4_105+5insGCGGCG splice_region AK7 2 81466 2.45501E-5 40733 0 8.54161E-6
14-96858600-A-AGCG c.105+4_105+5insGCG splice_region AK7 1 81466 1.22751E-5 40733 0 NA
14-96858603-G-A c.105+7G>A splice_region AK7 2 81322 2.45936E-5 40661 0 4.42243E-5
14-96864404-C-T c.106-8C>T splice_region AK7 2 83204 2.40373E-5 41602 0 NA
14-96864431-T-A p.Val42Asp missense AK7 2 83312 2.40061E-5 41656 0 NA
14-96864436-G-A p.Ala44Thr missense AK7 1 83318 1.20022E-5 41659 0 NA
14-96864440-C-T p.Ser45Leu missense AK7 2 83316 2.4005E-5 41658 0 3.2963E-5
14-96864441-G-A p.Ser45Ser synonymous AK7 4 83314 4.80111E-5 41657 0 3.1837E-5
14-96864455-CAGAGGAAGAGGA-C p.Glu53_Glu56del disruptive_inframe_deletion AK7 54 83334 6.47995E-4 41667 0 5.73139E-4
14-96864455-CAGAGGA-C p.Glu55_Glu56del disruptive_inframe_deletion AK7 3 83334 3.59997E-5 41667 0 1.27364E-4
14-96864455-C-CAGAGGA p.Glu55_Glu56dup disruptive_inframe_insertion AK7 1 83334 1.19999E-5 41667 0 6.36821E-5
14-96864457-G-A p.Glu51Lys missense AK7 2 83330 2.4001E-5 41665 0 7.95488E-6
14-96864459-G-A p.Glu51Glu synonymous AK7 2 83330 2.4001E-5 41665 0 3.1837E-5
14-96864465-G-C p.Glu53Asp missense AK7 2 83334 2.39998E-5 41667 0 3.97703E-6
14-96864474-A-G p.Glu56Glu synonymous AK7 4 83338 4.79973E-5 41669 0 3.1837E-5
14-96864490-G-A p.Ala62Thr missense AK7 2 83320 2.40038E-5 41660 0 1.64737E-5
14-96864491-C-T p.Ala62Val missense AK7 1 83316 1.20025E-5 41658 0 3.97643E-6
14-96864504-T-G p.Ala66Ala synonymous AK7 17 83320 2.04033E-4 41660 0 0.0020141
14-96864507-C-T p.Ser67Ser synonymous AK7 2 83330 2.4001E-5 41665 0 3.97649E-6
14-96864511-A-T p.Thr69Ser missense AK7 5 83318 6.0011E-5 41659 0 1.59175E-4
14-96864529-A-C p.Thr75Pro missense AK7 12 83290 1.44075E-4 41645 0 5.03525E-4
14-96864531-A-G p.Thr75Thr synonymous AK7 2 83288 2.40131E-5 41644 0 NA
14-96864539-T-C p.Ile78Thr missense AK7 3 83286 3.60205E-5 41643 0 2.38588E-5
14-96864539-T-G p.Ile78Ser missense AK7 1 83286 1.20068E-5 41643 0 NA
14-96864545-G-A p.Gly80Asp missense AK7 3 83286 3.60205E-5 41643 0 3.97681E-6
14-96864548-C-T p.Thr81Met missense AK7 8 83278 9.60638E-5 41639 0 9.94218E-5
14-96864549-G-A p.Thr81Thr synonymous AK7 4 83272 4.80354E-5 41636 0 2.47141E-5
14-96864554-C-G p.Ser83Cys missense AK7 1 83254 1.20114E-5 41627 0 6.25E-4
14-96864570-G-A p.Pro88Pro synonymous AK7 2 83192 2.40408E-5 41596 0 3.18532E-5
14-96864571-C-T p.Arg89Trp missense AK7 1 83184 1.20215E-5 41592 0 4.94397E-5
14-96864572-G-T p.Arg89Leu missense AK7 1 83164 1.20244E-5 41582 0 NA
14-96864572-G-A p.Arg89Gln missense AK7 1 83164 1.20244E-5 41582 0 8.23995E-6
14-96864574-C-T p.Pro90Ser missense AK7 1 83152 1.20262E-5 41576 0 3.29614E-5
14-96864579-C-T p.Asp91Asp synonymous AK7 2 83132 2.40581E-5 41566 0 1.64845E-5
14-96864583-G-A p.Ala93Thr missense AK7 2 83084 2.4072E-5 41542 0 3.97937E-6
14-96864584-C-T p.Ala93Val missense AK7 4 83062 4.81568E-5 41531 0 3.29745E-5
14-96864585-G-C p.Ala93Ala synonymous AK7 4 83048 4.81649E-5 41524 0 1.64883E-5
14-96864585-G-A p.Ala93Ala synonymous AK7 6 83048 7.22474E-5 41524 0 5.03525E-4
14-96864591-G-C p.Glu95Asp missense AK7 2 82980 2.41022E-5 41490 0 1.59219E-5
14-96864594-G-A p.Thr96Thr synonymous AK7 6 82888 7.23868E-5 41444 0 2.54826E-4
14-96864595-T-C p.Tyr97His missense AK7 1 82872 1.20668E-5 41436 0 4.3787E-5
14-96864598-T-C p.Ser98Pro missense+splice_region AK7 1 82830 1.20729E-5 41415 0 3.18573E-5
14-96864609-C-T p.Pro101Pro synonymous AK7 2 82584 2.42178E-5 41292 0 9.09061E-5
14-96864616-T-C p.Ser104Pro missense AK7 3 82454 3.63839E-5 41227 0 5.1806E-5
14-96871090-T-C c.295-4T>C splice_region AK7 1 82172 1.21696E-5 41086 0 6.36983E-5
14-96871097-A-C p.Ile100Leu missense AK7 1 82454 1.2128E-5 41227 0 NA
14-96871104-G-A p.Arg102Gln missense AK7 19421 81840 0.237304 40920 2369 0.22624
14-96871107-A-C p.Glu103Ala missense AK7 2 82694 2.41856E-5 41347 0 NA
14-96871109-G-T p.Asp104Tyr missense AK7 5 82712 6.04507E-5 41356 0 1.59327E-4
14-96871121-C-A p.Arg108Ser missense AK7 1 82786 1.20793E-5 41393 0 8.24416E-6
14-96871121-C-T p.Arg108Cys missense AK7 1 82786 1.20793E-5 41393 0 1.64883E-5
14-96871122-G-A p.Arg108His missense AK7 4 82794 4.83127E-5 41397 0 0.00101937
14-96871138-T-C p.Asp113Asp synonymous AK7 1 82868 1.20674E-5 41434 0 8.24348E-6
14-96871147-T-C p.Ile116Ile synonymous AK7 3 82878 3.61978E-5 41439 0 2.47292E-5
14-96871154-A-C p.Ile119Leu missense AK7 1 82818 1.20747E-5 41409 0 2.47292E-5
14-96871155-T-C p.Ile119Thr missense AK7 1 82798 1.20776E-5 41399 0 NA
14-96871179-A-C p.Glu127Ala missense AK7 1 82720 1.2089E-5 41360 0 3.18532E-5
14-96871187-A-T p.Ile130Phe missense AK7 1 82662 1.20975E-5 41331 0 NA
14-96871201-T-C p.Ser134Ser splice_region+synonymous AK7 4 82404 4.85413E-5 41202 0 1.19467E-5
14-96871208-T-C c.403+6T>C splice_region AK7 2 82208 2.43285E-5 41104 0 NA
14-96871209-G-A c.403+7G>A splice_region AK7 2 82174 2.43386E-5 41087 0 NA
14-96875176-C-T c.404-8C>T splice_region AK7 2 83314 2.40056E-5 41657 0 9.57488E-5
14-96875178-C-G c.404-6C>G splice_region AK7 2 83334 2.39998E-5 41667 0 NA
14-96875178-C-T c.404-6C>T splice_region AK7 1 83334 1.19999E-5 41667 0 NA
14-96875206-C-T p.His142His synonymous AK7 2 83382 2.3986E-5 41691 0 3.18309E-5
14-96875215-G-A p.Lys145Lys synonymous AK7 1 83384 1.19927E-5 41692 0 1.98831E-5
14-96875224-A-ATT p.Ile150fs frameshift AK7 1 83384 1.19927E-5 41692 0 NA
14-96875235-T-C p.Leu152Pro missense AK7 29 83380 3.47805E-4 41690 0 0.00108232
14-96875245-G-T p.Val155Val synonymous AK7 1 83390 1.19918E-5 41695 0 NA
14-96875247-T-C p.Met156Thr missense AK7 2 83386 2.39848E-5 41693 0 NA
14-96875262-C-T p.Ser161Phe missense AK7 1 83372 1.19944E-5 41686 0 NA
14-96875275-C-T p.Asp165Asp synonymous AK7 1 83350 1.19976E-5 41675 0 NA
14-96875278-C-T p.Pro166Pro splice_region+synonymous AK7 1 83348 1.19979E-5 41674 0 3.18532E-5
14-96875279-G-A c.498+1G>A splice_donor AK7 3 83346 3.59945E-5 41673 0 2.48369E-5
14-96875285-A-T c.498+7A>T splice_region AK7 4 83342 4.7995E-5 41671 0 4.38509E-5
14-96875286-G-A c.498+8G>A splice_region AK7 19 83340 2.27982E-4 41670 0 1.15509E-4
14-96875286-G-C c.498+8G>C splice_region AK7 3 83340 3.59971E-5 41670 0 6.3674E-5
14-96887151-T-C c.499-8T>C splice_region AK7 170 82170 0.00206888 41085 0 0.00496847
14-96887154-A-G c.499-5A>G splice_region AK7 4 82334 4.85826E-5 41167 0 9.55353E-5
14-96887155-A-G c.499-4A>G splice_region AK7 1 82378 1.21392E-5 41189 0 NA
14-96887167-T-C p.Ser169Ser synonymous AK7 53 82676 6.41057E-4 41338 1 4.54687E-4
14-96887189-G-C p.Asp177His missense AK7 1 82858 1.20688E-5 41429 0 NA
14-96887196-G-A p.Arg179Gln missense AK7 1 82866 1.20677E-5 41433 0 8.24974E-6
14-96887227-C-A p.Asp189Glu missense AK7 1 82908 1.20616E-5 41454 0 3.98099E-6
14-96887228-C-T p.His190Tyr missense AK7 7 82916 8.44228E-5 41458 0 3.98222E-6
14-96887235-A-G p.Asn192Ser missense AK7 1 82850 1.207E-5 41425 0 3.18471E-5
14-96887248-G-T p.Met196Ile missense AK7 4 82782 4.83197E-5 41391 0 3.18492E-5
14-96887256-A-G p.Lys199Arg missense AK7 5 82684 6.04712E-5 41342 0 3.34471E-4
14-96887268-AG-A p.Phe200fs frameshift AK7 1 82472 1.21253E-5 41236 0 4.38548E-5
14-96904164-T-C c.610-8T>C splice_region AK7 1 82296 1.21513E-5 41148 0 4.11218E-6
14-96904185-C-A p.Ala208Glu missense AK7 1 82664 1.20972E-5 41332 0 NA
14-96904193-G-A p.Val211Ile missense AK7 1 82728 1.20878E-5 41364 0 1.32481E-4
14-96904196-G-T p.Val212Phe missense AK7 1 82794 1.20782E-5 41397 0 1.65788E-5
14-96904201-T-C p.Ala213Ala synonymous AK7 1 82866 1.20677E-5 41433 0 8.28157E-6
14-96904204-T-G p.Ala214Ala synonymous AK7 1 82878 1.20659E-5 41439 0 NA
14-96904210-C-T p.Leu216Leu synonymous AK7 2 82896 2.41266E-5 41448 0 NA
14-96904219-A-G p.Gly219Gly synonymous AK7 1 82896 1.20633E-5 41448 0 NA
14-96904221-C-T p.Ala220Val missense AK7 45 82878 5.42967E-4 41439 0 6.85542E-4
14-96904222-G-A p.Ala220Ala synonymous AK7 15 82888 1.80967E-4 41444 0 3.50341E-4
14-96904229-G-A p.Gly223Ser missense AK7 1 82898 1.2063E-5 41449 0 NA
14-96904232-A-G p.Met224Val missense AK7 1 82878 1.20659E-5 41439 0 3.18431E-5
14-96904243-A-T p.Thr227Thr synonymous AK7 25 82798 3.0194E-4 41399 0 4.46059E-4
14-96909063-T-G c.691-4T>G splice_region AK7 1 82930 1.20584E-5 41465 0 NA
14-96909081-C-T p.Gly235Gly synonymous AK7 2 83098 2.4068E-5 41549 0 3.97649E-5
14-96909082-G-A p.Glu236Lys missense AK7 3 83108 3.60976E-5 41554 0 1.27397E-4
14-96909100-G-A p.Val242Ile missense AK7 1 83158 1.20253E-5 41579 0 NA
14-96909108-C-T p.Gly244Gly synonymous AK7 1 83132 1.20291E-5 41566 0 NA
14-96909108-C-A p.Gly244Gly synonymous AK7 1 83132 1.20291E-5 41566 0 8.23655E-6
14-96909109-G-A p.Asp245Asn missense AK7 1 83138 1.20282E-5 41569 0 1.64731E-5
14-96909109-G-T p.Asp245Tyr missense AK7 1 83138 1.20282E-5 41569 0 NA
14-96909125-T-C p.Ile250Thr missense AK7 1 83078 1.20369E-5 41539 0 NA
14-96909151-G-C p.Ala259Pro missense AK7 2 82954 2.41097E-5 41477 0 7.95444E-6
14-96909158-A-G c.779+3A>G splice_region AK7 1 82884 1.20651E-5 41442 0 9.55414E-5
14-96912860-A-G p.Ile262Met missense AK7 1 83290 1.20062E-5 41645 0 8.23778E-6
14-96912866-C-T p.Asn264Asn synonymous AK7 1 83290 1.20062E-5 41645 0 6.37227E-5
14-96912867-G-T p.Val265Phe missense AK7 2 83292 2.40119E-5 41646 0 3.29506E-5
14-96912867-G-A p.Val265Ile missense AK7 6 83292 7.20357E-5 41646 0 0.001875
14-96912870-A-G p.Ile266Val missense AK7 11 83314 1.32031E-4 41657 0 6.25E-4
14-96912878-C-T p.His268His synonymous AK7 2 83330 2.4001E-5 41665 0 1.19299E-5
14-96912879-G-A p.Val269Met missense AK7 2 83330 2.4001E-5 41665 0 1.35205E-4
14-96912892-A-G p.His273Arg missense AK7 8 83342 9.599E-5 41671 0 4.77951E-4
14-96912917-T-C p.Ser281Ser synonymous AK7 2 83318 2.40044E-5 41659 0 NA
14-96912937-T-C p.Ile288Thr missense AK7 1 83260 1.20106E-5 41630 0 6.37064E-5
14-96912940-T-G p.Val289Gly missense AK7 1 83256 1.20111E-5 41628 0 NA
14-96912950-G-A c.870+6G>A splice_region AK7 1 83230 1.20149E-5 41615 0 2.47321E-5
14-96912951-T-C c.870+7T>C splice_region AK7 1 83224 1.20158E-5 41612 0 1.64878E-5
14-96916141-T-C p.Cys291Cys splice_region+synonymous AK7 2 82714 2.41797E-5 41357 0 2.9779E-5
14-96916152-A-C p.Asn295Thr missense AK7 1 82838 1.20718E-5 41419 0 NA
14-96916163-G-C p.Gly299Arg missense AK7 1 82852 1.20697E-5 41426 0 NA
14-96916164-G-A p.Gly299Glu missense AK7 2 82852 2.41394E-5 41426 1 4.02739E-6
14-96916165-G-A p.Gly299Gly synonymous AK7 30 82844 3.62126E-4 41422 0 2.25472E-4
14-96916195-A-G p.Ala309Ala synonymous AK7 3 82716 3.62687E-5 41358 0 3.21647E-5
14-96916204-C-T p.Thr312Thr synonymous AK7 1 82662 1.20975E-5 41331 0 9.09041E-6
14-96916215-C-T p.Thr316Met missense+splice_region AK7 1 82126 1.21764E-5 41063 0 3.69379E-5
14-96916220-A-C c.948+4A>C splice_region AK7 1 82248 1.21584E-5 41124 0 9.82511E-6
14-96917758-C-G p.Gln317Glu missense+splice_region AK7 2 82214 2.43268E-5 41107 0 1.71857E-5
14-96917764-T-C p.Cys319Arg missense AK7 1 82248 1.21584E-5 41124 0 3.1837E-5
14-96917765-G-A p.Cys319Tyr missense AK7 1 82416 1.21336E-5 41208 0 6.37105E-5
14-96917779-C-T p.Leu324Leu synonymous AK7 3 82478 3.63733E-5 41239 0 6.25E-4
14-96917791-A-G p.Arg328Gly missense AK7 1 82694 1.20928E-5 41347 0 4.22883E-6
14-96917801-C-T p.Ala331Val missense AK7 6 82806 7.24585E-5 41403 0 1.65695E-5
14-96917802-G-A p.Ala331Ala synonymous AK7 3 82808 3.62284E-5 41404 0 2.48386E-4
14-96917805-C-G p.Leu332Leu synonymous AK7 1 82858 1.20688E-5 41429 0 8.27499E-6
14-96917809-G-A p.Val334Met missense AK7 1 82822 1.20741E-5 41411 0 3.18471E-5
14-96917816-A-C p.Glu336Ala missense AK7 1 82836 1.2072E-5 41418 0 NA
14-96917825-A-G p.Asn339Ser missense AK7 2 83002 2.40958E-5 41501 0 6.36943E-5
14-96917828-T-C p.Ile340Thr missense AK7 3 82994 3.61472E-5 41497 0 NA
14-96917830-C-T p.Arg341* stop_gained AK7 1 82982 1.20508E-5 41491 0 3.18512E-5
14-96917831-G-A p.Arg341Gln missense AK7 4 82962 4.82148E-5 41481 0 6.36943E-5
14-96917867-A-C p.Asn353Thr missense AK7 1 82840 1.20715E-5 41420 0 5.03525E-4
14-96917868-C-T p.Asn353Asn synonymous AK7 1 82812 1.20755E-5 41406 0 NA
14-96917871-T-C p.Thr354Thr synonymous AK7 1 82644 1.21001E-5 41322 0 8.27705E-5
14-96917877-C-T p.Leu356Leu synonymous AK7 13 82462 1.57648E-4 41231 0 7.47471E-5
14-96917880-G-A p.Lys357Lys synonymous AK7 16 82452 1.94052E-4 41226 0 6.25E-4
14-96917886-C-A p.Tyr359* stop_gained AK7 1 81852 1.22172E-5 40926 0 NA
14-96917887-A-G p.Lys360Glu missense AK7 80 81830 9.77637E-4 40915 0 0.00175137
14-96917902-T-C p.Leu365Leu synonymous AK7 1 80722 1.23882E-5 40361 0 4.76095E-6
14-96917905-A-T p.Met366Leu missense+splice_region AK7 1 80608 1.24057E-5 40304 0 4.84308E-6
14-96917913-T-C c.1098+6T>C splice_region AK7 1 80050 1.24922E-5 40025 0 2.5425E-5
14-96922687-A-T p.Ile368Phe missense AK7 1 83248 1.20123E-5 41624 0 NA
14-96922689-C-T p.Ile368Ile synonymous AK7 1 83248 1.20123E-5 41624 0 1.99138E-5
14-96922708-C-T p.Pro375Ser missense AK7 1 83280 1.20077E-5 41640 0 2.78563E-5
14-96922728-C-A p.Ser381Ser synonymous AK7 1 83296 1.20054E-5 41648 0 NA
14-96922729-A-G p.Ser382Gly missense AK7 1 83286 1.20068E-5 41643 0 3.29674E-5
14-96922738-A-G p.Lys385Glu missense AK7 1028 83286 0.012343 41643 39 0.0270839
14-96922745-T-C p.Leu387Ser missense AK7 1 83322 1.20016E-5 41661 0 3.97697E-6
14-96922750-A-G p.Asn389Asp missense AK7 1 83320 1.20019E-5 41660 0 3.97719E-6
14-96922751-A-G p.Asn389Ser missense AK7 1 83322 1.20016E-5 41661 0 3.18552E-5
14-96922752-C-G p.Asn389Lys missense AK7 71564 83092 0.861262 41546 30962 0.903827
14-96922758-C-T p.Tyr391Tyr synonymous AK7 2 83300 2.40096E-5 41650 0 NA
14-96922759-A-G p.Lys392Glu missense AK7 1 83302 1.20045E-5 41651 0 NA
14-96922766-A-G p.His394Arg missense AK7 75 83306 9.00295E-4 41653 1 0.00288355
14-96922771-A-G p.Ile396Val missense AK7 4 83302 4.80181E-5 41651 0 3.18532E-5
14-96922783-G-A p.Asp400Asn missense AK7 2 83278 2.40159E-5 41639 0 3.98153E-6
14-96922810-C-T p.Leu409Leu splice_region+synonymous AK7 3 83200 3.60577E-5 41600 0 4.96623E-5
14-96924413-T-C c.1228-7T>C splice_region AK7 2 79776 2.50702E-5 39888 0 NA
14-96924425-G-A p.Ala411Ala synonymous AK7 2 79936 2.502E-5 39968 0 3.18735E-5
14-96924433-C-T p.Ala414Val missense AK7 1 79948 1.25081E-5 39974 0 4.02346E-6
14-96924440-C-T p.Asn416Asn synonymous AK7 5 79920 6.25626E-5 39960 0 3.21831E-5
14-96924441-G-A p.Asp417Asn missense AK7 3 79916 3.75394E-5 39958 0 1.65006E-5
14-96924447-G-A p.Gly419Arg missense AK7 4 79912 5.00551E-5 39956 0 3.30044E-5
14-96924454-GAGA-G p.Glu424del disruptive_inframe_deletion AK7 3 79826 3.75817E-5 39913 0 5.20833E-4
14-96924454-G-A p.Gly421Glu missense AK7 1 79828 1.25269E-5 39914 0 8.04751E-6
14-96924468-G-A p.Glu426Lys missense AK7 3 79588 3.76941E-5 39794 0 3.30458E-5
14-96924470-A-G p.Glu426Glu synonymous AK7 1 79584 1.25653E-5 39792 0 NA
14-96924476-A-AGAGGAG p.Glu431_Glu432dup conservative_inframe_insertion AK7 1 79498 1.25789E-5 39749 0 NA
14-96924486-G-A p.Glu432Lys missense AK7 1 79368 1.25995E-5 39684 0 NA
14-96924503-A-G p.Ala437Ala synonymous AK7 12 79252 1.51416E-4 39626 0 4.77829E-4
14-96924519-G-A p.Gly443Ser missense AK7 1 79178 1.26298E-5 39589 0 8.27349E-6
14-96924521-C-T p.Gly443Gly synonymous AK7 1 79150 1.26342E-5 39575 0 NA
14-96924528-G-A p.Glu446Lys missense AK7 2 79204 2.52512E-5 39602 0 0.00125
14-96924532-G-T p.Ser447Ile missense AK7 2 79196 2.52538E-5 39598 0 1.61186E-5
14-96924534-A-G p.Met448Val missense AK7 2 79190 2.52557E-5 39595 0 8.28061E-6
14-96924548-A-G p.Ala452Ala splice_region+synonymous AK7 4 79038 5.06086E-5 39519 0 6.37227E-5
14-96937825-C-T p.Asp456Asp synonymous AK7 73 81206 8.98948E-4 40603 0 0.001664
14-96937826-G-A p.Asp457Asn missense AK7 1 81332 1.22953E-5 40666 0 6.40328E-5
14-96937843-A-G p.Arg462Arg synonymous AK7 1 82184 1.21678E-5 41092 0 NA
14-96937875-G-T p.Cys473Phe missense AK7 2 82636 2.42025E-5 41318 0 2.48221E-5
14-96937903-A-T p.Gly482Gly synonymous AK7 1 82726 1.20881E-5 41363 0 8.26078E-6
14-96937906-C-A p.Phe483Leu missense AK7 1 82716 1.20896E-5 41358 0 NA
14-96937908-C-T p.Pro484Leu missense AK7 4 82718 4.83571E-5 41359 0 NA
14-96937909-A-G p.Pro484Pro synonymous AK7 62 82724 7.4948E-4 41362 0 0.00139616
14-96937917-A-G p.Tyr487Cys missense AK7 6 82656 7.259E-5 41328 0 1.72354E-5
14-96937925-G-C p.Ala490Pro missense AK7 1 82524 1.21177E-5 41262 0 NA
14-96937933-C-T p.Asp492Asp synonymous AK7 3 82442 3.63892E-5 41221 0 1.66008E-5
14-96937937-T-G p.Phe494Val missense AK7 1 82124 1.21767E-5 41062 0 NA
14-96937938-T-A p.Phe494Tyr missense AK7 1 82072 1.21844E-5 41036 0 NA
14-96937941-A-G p.Asn495Ser missense+splice_region AK7 2 81906 2.44182E-5 40953 0 8.32737E-6
14-96939031-TGAG-T p.Glu502del disruptive_inframe_deletion AK7 6 82788 7.24743E-5 41394 0 7.9583E-6
14-96939059-A-G p.Arg508Gly missense AK7 2 82822 2.41482E-5 41411 0 3.18532E-5
14-96939062-A-G p.Met509Val missense AK7 1 82788 1.2079E-5 41394 0 NA
14-96939068-C-G p.Pro511Ala missense AK7 1 82794 1.20782E-5 41397 0 NA
14-96939095-A-G c.1555+3A>G splice_region AK7 1 82462 1.21268E-5 41231 0 5.09407E-5
14-96939098-T-C c.1555+6T>C splice_region AK7 1 82422 1.21327E-5 41211 0 NA
14-96944799-C-T c.1556-3C>T splice_region AK7 1 82726 1.20881E-5 41363 0 NA
14-96944807-G-A p.Val521Ile missense AK7 218 82746 0.00263457 41373 1 0.005
14-96944807-G-T p.Val521Phe missense AK7 3 82748 3.62547E-5 41374 0 8.2371E-6
14-96944809-T-C p.Val521Val synonymous AK7 2 82792 2.41569E-5 41396 0 8.23696E-6
14-96944812-T-A p.Cys522* stop_gained AK7 1 82800 1.20773E-5 41400 0 NA
14-96944826-C-T p.Ser527Leu missense AK7 2 82994 2.40981E-5 41497 0 6.25E-4
14-96944827-G-T p.Ser527Ser synonymous AK7 1 83048 1.20412E-5 41524 0 NA
14-96944827-G-A p.Ser527Ser synonymous AK7 2 83048 2.40825E-5 41524 0 3.18715E-5
14-96944830-T-A p.Asp528Glu missense AK7 2 83072 2.40755E-5 41536 0 NA
14-96944838-T-C p.Leu531Pro missense AK7 2 83210 2.40356E-5 41605 1 1.98883E-5
14-96944843-G-A p.Glu533Lys missense AK7 13 83304 1.56055E-4 41652 0 0.00100705
14-96944847-G-A p.Arg534His missense AK7 6 83336 7.19977E-5 41668 0 5.16997E-5
14-96944851-G-A p.Val535Val synonymous AK7 1 83368 1.1995E-5 41684 0 4.11821E-5
14-96944872-C-T p.Ile542Ile synonymous AK7 10 83392 1.19916E-4 41696 0 7.41278E-5
14-96944873-G-A p.Val543Met missense AK7 1 83392 1.19916E-5 41696 0 1.5906E-5
14-96944874-T-C p.Val543Ala missense AK7 1 83392 1.19916E-5 41696 0 NA
14-96944878-G-A p.Ala544Ala synonymous AK7 3598 83336 0.0431746 41668 85 0.0532093
14-96944878-G-C p.Ala544Ala synonymous AK7 1 83386 1.19924E-5 41693 0 3.97678E-6
14-96944890-C-G p.Tyr548* stop_gained AK7 1 83374 1.19941E-5 41687 0 NA
14-96944900-C-T p.Arg552* stop_gained AK7 2 83388 2.39843E-5 41694 0 1.64737E-5
14-96944901-G-A p.Arg552Gln missense AK7 6 83388 7.19528E-5 41694 0 5.03525E-4
14-96944903-T-A p.Phe553Ile missense AK7 8 83386 9.59394E-5 41693 0 3.50252E-4
14-96944909-C-T p.Arg555Trp missense AK7 3 83384 3.59781E-5 41692 0 6.25E-4
14-96944910-G-C p.Arg555Pro missense AK7 2 83384 2.39854E-5 41692 0 3.97671E-6
14-96944910-G-A p.Arg555Gln missense AK7 1 83384 1.19927E-5 41692 0 3.1839E-5
14-96944922-A-G p.Asn559Ser missense AK7 3 83376 3.59816E-5 41688 0 6.25E-4
14-96944927-C-T p.Arg561Trp missense AK7 1 83382 1.1993E-5 41691 0 6.25E-4
14-96944928-G-C p.Arg561Pro missense AK7 1 83384 1.19927E-5 41692 0 3.97655E-6
14-96944928-G-A p.Arg561Gln missense AK7 1 83384 1.19927E-5 41692 0 8.2371E-6
14-96944941-C-T p.Ile565Ile synonymous AK7 1 83382 1.1993E-5 41691 0 6.36862E-5
14-96944944-C-T p.Asp566Asp synonymous AK7 6 83380 7.19597E-5 41690 0 1.91071E-4
14-96944947-T-C p.Asp567Asp synonymous AK7 3 83378 3.59807E-5 41689 0 NA
14-96944952-C-A p.Thr569Asn missense AK7 2 83370 2.39894E-5 41685 0 6.36983E-5
14-96944953-T-C p.Thr569Thr synonymous AK7 1 83374 1.19941E-5 41687 0 3.97665E-6
14-96944955-T-C p.Val570Ala missense AK7 1 83372 1.19944E-5 41686 0 1.64818E-5
14-96944967-T-C p.Phe574Ser missense AK7 1 83344 1.19985E-5 41672 0 0.00100705
14-96944969-G-A p.Asp575Asn missense AK7 1 83338 1.19993E-5 41669 0 NA
14-96944973-A-G p.Glu576Gly missense AK7 2 83320 2.40038E-5 41660 0 NA
14-96944975-C-T p.Leu577Phe missense AK7 2 83324 2.40027E-5 41662 0 3.29935E-5
14-96944977-T-G p.Leu577Leu synonymous AK7 1 83312 1.20031E-5 41656 0 4.77236E-5
14-96944988-C-T p.Pro581Leu missense AK7 2 83268 2.40188E-5 41634 0 3.3066E-5
14-96944989-G-A p.Pro581Pro synonymous AK7 49 83246 5.88617E-4 41623 0 6.69131E-4
14-96944992-A-G p.Ile582Met missense AK7 1 83238 1.20137E-5 41619 0 8.2765E-6
14-96949324-T-C p.Leu2Pro missense AK7 1 83196 1.20198E-5 41598 0 1.66467E-5
14-96949330-T-G p.Phe4Cys missense AK7 1 83202 1.20189E-5 41601 0 NA
14-96949332-A-G p.Lys5Glu missense AK7 2 83218 2.40333E-5 41609 0 NA
14-96949353-G-A p.Asp591Asn missense AK7 2 83260 2.40211E-5 41630 0 NA
14-96949369-T-C p.Leu596Pro missense AK7 1 83272 1.20088E-5 41636 0 NA
14-96949399-G-C p.Gly606Ala missense AK7 1 83250 1.2012E-5 41625 0 NA
14-96949403-G-A p.Glu607Glu synonymous AK7 1 83252 1.20117E-5 41626 0 8.24266E-6
14-96949407-C-T p.Arg609* stop_gained AK7 2 83240 2.40269E-5 41620 0 8.24253E-6
14-96949408-G-A p.Arg609Gln missense AK7 1 83236 1.2014E-5 41618 0 4.1214E-5
14-96949414-A-G p.Tyr611Cys missense AK7 2 83232 2.40292E-5 41616 0 NA
14-96949415-T-C p.Tyr611Tyr synonymous AK7 1 83228 1.20152E-5 41614 0 NA
14-96949423-C-T p.Thr614Ile missense AK7 1 83214 1.20172E-5 41607 0 NA
14-96949427-C-A p.Asp615Glu missense AK7 5 83214 6.0086E-5 41607 0 3.1841E-5
14-96949427-C-T p.Asp615Asp synonymous AK7 5 83214 6.0086E-5 41607 0 5.77148E-5
14-96949428-G-A p.Glu616Lys missense AK7 11 83202 1.32208E-4 41601 0 2.90466E-4
14-96949434-A-C p.Lys618Gln missense AK7 1 83196 1.20198E-5 41598 0 8.2496E-6
14-96949447-A-G p.Glu622Gly missense AK7 3 83174 3.6069E-5 41587 0 NA
14-96949449-C-T p.Arg623Trp missense AK7 9 83152 1.08236E-4 41576 0 1.59266E-4
14-96949450-G-A p.Arg623Gln missense AK7 4 83154 4.81035E-5 41577 0 4.77688E-5
14-96949455-G-A p.Ala625Thr missense AK7 2 83132 2.40581E-5 41566 0 1.65931E-5
14-96949459-C-T p.Ala626Val missense AK7 4 83084 4.8144E-5 41542 0 2.38983E-5
14-96949460-G-A p.Ala626Ala synonymous AK7 4 83090 4.81406E-5 41545 0 6.25E-4
14-96949467-C-T p.Arg629Trp missense AK7 1 83064 1.20389E-5 41532 0 7.96787E-6
14-96949468-G-A p.Arg629Gln missense AK7 7 83064 8.42724E-5 41532 0 1.03597E-4
14-96949469-G-A p.Arg629Arg synonymous AK7 3 83054 3.61211E-5 41527 0 1.59422E-5
14-96949476-A-G p.Arg632Gly missense AK7 3 83022 3.6135E-5 41511 0 1.27495E-4
14-96949481-G-C p.Glu633Asp missense AK7 1 82988 1.20499E-5 41494 0 NA
14-96949487-T-G p.Ala635Ala synonymous AK7 1 82936 1.20575E-5 41468 0 8.68342E-6
14-96949489-A-C p.Glu636Ala missense AK7 1 82926 1.20589E-5 41463 0 1.99776E-5
14-96949490-G-A p.Glu636Glu synonymous AK7 1 82956 1.20546E-5 41478 0 NA
14-96949500-C-T p.Arg640Cys missense AK7 1 82820 1.20744E-5 41410 0 2.80831E-5
14-96949501-G-T p.Arg640Leu missense AK7 1 82790 1.20788E-5 41395 0 3.18756E-5
14-96949518-G-A p.Val646Met missense AK7 30 82646 3.62994E-4 41323 0 0.0015121
14-96949519-T-A p.Val646Glu missense AK7 1 82626 1.21027E-5 41313 0 1.06685E-5
14-96949521-G-A p.Glu647Lys missense AK7 1 82628 1.21024E-5 41314 0 NA
14-96949524-A-G p.Met648Val missense AK7 1 82560 1.21124E-5 41280 0 NA
14-96949535-G-T p.Lys651Asn missense AK7 1 82284 1.2153E-5 41142 0 0.00125156
14-96949542-C-T p.Arg654Cys missense AK7 2 81708 2.44774E-5 40854 0 1.38141E-5
14-96949543-G-A p.Arg654His missense AK7 1 81568 1.22597E-5 40784 0 NA
14-96953237-T-A p.Asn659Lys missense+splice_region AK7 1 83226 1.20155E-5 41613 0 3.9867E-6
14-96953240-A-G p.Lys660Lys synonymous AK7 1 83252 1.20117E-5 41626 0 3.19224E-5
14-96953242-G-A p.Arg661Gln missense AK7 2 83254 2.40229E-5 41627 0 0.00100705
14-96953278-T-C p.Leu673Pro missense AK7 134 83334 0.00160799 41667 0 0.00167694
14-96953282-G-T p.Glu674Asp missense AK7 1 83330 1.20005E-5 41665 0 NA
14-96953284-C-T p.Ala675Val missense AK7 7 83336 8.39973E-5 41668 0 3.30278E-5
14-96953314-T-A p.Met685Lys missense AK7 2 83364 2.39912E-5 41682 0 3.97655E-6
14-96953316-A-C p.Thr686Pro missense AK7 1 83366 1.19953E-5 41683 0 NA
14-96953318-C-T p.Thr686Thr synonymous AK7 3 83368 3.5985E-5 41684 0 9.146E-5
14-96953330-A-G p.Pro690Pro synonymous AK7 1 83370 1.19947E-5 41685 0 5.76853E-5
14-96953335-T-G p.Leu692Arg missense AK7 6 83366 7.19718E-5 41683 0 8.24131E-6
14-96953344-G-A p.Gly695Asp missense AK7 2 83362 2.39917E-5 41681 0 NA
14-96953351-T-A p.Asn697Lys missense AK7 3 83362 3.59876E-5 41681 0 1.64823E-5
14-96953355-T-C p.Cys699Arg missense AK7 2 83362 2.39917E-5 41681 0 3.97665E-6
14-96953363-C-T p.Asn701Asn synonymous AK7 2 83344 2.39969E-5 41672 0 3.19264E-5
14-96953364-G-A p.Val702Ile missense AK7 36 83340 4.31965E-4 41670 0 1.94879E-4
14-96953367-C-T p.Arg703* stop_gained AK7 1 83342 1.19988E-5 41671 0 2.47325E-5
14-96953368-G-A p.Arg703Gln missense AK7 1 83340 1.1999E-5 41670 0 NA
14-96953372-C-T p.Pro704Pro synonymous AK7 1 83340 1.1999E-5 41670 0 3.9781E-6
14-96953376-G-A p.Asp706Asn missense AK7 1 83342 1.19988E-5 41671 0 NA
14-96953398-CAT-C c.2133+6_2133+7delAT splice_region AK7 1 83294 1.20057E-5 41647 0 3.1998E-5
14-96954306-A-C p.Gln136His missense AK7 19 12606 0.00150722 6303 0 0.00172139
14-96954316-C-T p.Leu140Phe missense AK7 2 13690 1.46092E-4 6845 0 1.59276E-4
14-96954318-C-T p.Leu140Leu synonymous AK7 2 13900 1.43885E-4 6950 0 3.18634E-5
14-96954319-G-A p.Gly141Ser missense AK7 1 13250 7.54717E-5 6625 0 6.37877E-5
14-96954320-G-T p.Gly141Val missense AK7 1 14236 7.02445E-5 7118 0 NA
14-96954334-C-T p.Pro146Ser missense AK7 2 15856 1.26135E-4 7928 0 NA
14-96954342-C-T p.Pro148Pro synonymous AK7 1 16658 6.00312E-5 8329 0 5.48149E-5
14-96954342-C-G p.Pro148Pro synonymous AK7 1 16658 6.00312E-5 8329 0 1.0963E-5
14-96954640-A-G c.2134-2A>G splice_acceptor AK7 1 82648 1.20995E-5 41324 0 3.98594E-6
14-96954651-CTCT-C p.Phe716del conservative_inframe_deletion AK7 5 82736 6.04332E-5 41368 0 6.36943E-5
14-96954654-T-C p.Phe716Leu missense AK7 1 82764 1.20825E-5 41382 0 2.22942E-4
14-96954667-C-T p.Pro720Leu missense AK7 1 82754 1.2084E-5 41377 0 3.98121E-6
14-96954674-A-G p.Ala722Ala synonymous AK7 1 82720 1.2089E-5 41360 0 6.3674E-5
14-96954676-A-G p.Gln723Arg missense AK7 1 82704 1.20913E-5 41352 0 8.25491E-6



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