Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-56395364-T-C c.*1457A>G splice_region AMFR 8 35922 2.22705E-4 17961 0 2.24172E-4
16-56396822-TAGG-T p.Ser643del disruptive_inframe_deletion AMFR 1 82584 1.21089E-5 41292 0 NA
16-56396825-G-A p.Ser643Phe missense AMFR 6 82610 7.26304E-5 41305 0 2.28292E-4
16-56396844-G-C p.Leu637Val missense AMFR 2 82726 2.41762E-5 41363 0 NA
16-56396849-C-T p.Arg635Gln missense AMFR 1 82758 1.20834E-5 41379 0 3.18695E-5
16-56396854-C-T p.Ala633Ala synonymous AMFR 6 82774 7.24865E-5 41387 0 0.00100908
16-56396859-C-T p.Ala632Thr missense AMFR 1 82858 1.20688E-5 41429 0 NA
16-56396860-G-A p.Ala631Ala synonymous AMFR 3 82872 3.62004E-5 41436 0 1.59662E-5
16-56396865-C-T p.Ala630Thr missense AMFR 1 82916 1.20604E-5 41458 0 3.98788E-6
16-56396870-A-G p.Met628Thr missense AMFR 1 82954 1.20549E-5 41477 0 NA
16-56396877-G-A p.Arg626* stop_gained AMFR 2 82982 2.41016E-5 41491 0 3.18471E-5
16-56396885-G-A p.Thr623Ile missense AMFR 1 83006 1.20473E-5 41503 0 NA
16-56396886-T-A p.Thr623Ser missense AMFR 1 82974 1.2052E-5 41487 0 NA
16-56396890-G-A p.Pro621Pro synonymous AMFR 4 83002 4.81916E-5 41501 0 6.37105E-5
16-56396901-A-C p.Ser618Ala missense AMFR 1 83058 1.20398E-5 41529 0 8.38378E-6
16-56396903-G-A p.Ala617Val missense AMFR 4 83056 4.81603E-5 41528 0 3.18532E-5
16-56396905-A-G p.Gly616Gly synonymous AMFR 1 83058 1.20398E-5 41529 0 NA
16-56396907-C-A p.Gly616Cys missense AMFR 4 83074 4.81498E-5 41537 0 1.91107E-4
16-56396909-T-C p.Glu615Gly missense AMFR 1 83082 1.20363E-5 41541 0 3.99119E-6
16-56396911-C-T p.Ser614Ser synonymous AMFR 1 83090 1.20351E-5 41545 0 3.99227E-6
16-56396917-G-A p.Leu612Leu synonymous AMFR 1 83096 1.20343E-5 41548 0 NA
16-56396918-A-G p.Leu612Pro missense AMFR 1 83078 1.20369E-5 41539 0 NA
16-56396932-G-C p.Ala607Ala synonymous AMFR 7 83052 8.42845E-5 41526 0 3.18471E-5
16-56396933-G-A p.Ala607Val missense AMFR 1 83042 1.20421E-5 41521 0 NA
16-56396935-C-T p.Ala606Ala synonymous AMFR 1 83016 1.20459E-5 41508 0 3.18593E-5
16-56396936-G-A p.Ala606Val missense AMFR 1 83024 1.20447E-5 41512 0 4.27343E-5
16-56396939-T-A p.Asp605Val missense AMFR 4 83008 4.81881E-5 41504 0 1.71388E-5
16-56396942-T-A p.Asp604Val missense AMFR 1 82984 1.20505E-5 41492 0 NA
16-56396951-C-CT p.Ser601fs frameshift AMFR 5 82944 6.02816E-5 41472 0 3.18431E-5
16-56396954-T-C p.Lys600Arg missense AMFR 1 82912 1.2061E-5 41456 0 NA
16-56396966-C-T p.Arg596His missense+splice_region AMFR 1 82736 1.20866E-5 41368 0 1.2244E-5
16-56396970-T-C c.1785-2A>G splice_acceptor AMFR 1 82662 1.20975E-5 41331 0 9.68561E-6
16-56397826-G-T c.1784+7C>A splice_region AMFR 1 82504 1.21206E-5 41252 0 8.35883E-6
16-56397837-G-A p.Arg594Cys missense AMFR 2 82632 2.42037E-5 41316 0 3.1841E-5
16-56397856-G-A p.Asp587Asp synonymous AMFR 521 82634 0.00630491 41317 10 0.0114672
16-56397861-T-TA p.Lys586fs frameshift AMFR 1 82748 1.20849E-5 41374 0 NA
16-56397878-C-A p.Arg580Leu missense AMFR 1 82688 1.20937E-5 41344 0 3.9794E-6
16-56397903-A-C p.Ser572Ala missense AMFR 2 82802 2.4154E-5 41401 0 3.97867E-6
16-56397919-A-C p.Ala566Ala synonymous AMFR 2 82820 2.41488E-5 41410 0 NA
16-56397923-TC-AA p.Glu565Leu missense AMFR 1 82878 1.20659E-5 41439 0 NA
16-56397925-G-A p.Phe564Phe synonymous AMFR 1 82846 1.20706E-5 41423 0 1.65492E-5
16-56397961-G-A p.Gly552Gly synonymous AMFR 1 82778 1.20805E-5 41389 0 8.34557E-5
16-56397964-G-A p.Phe551Phe synonymous AMFR 6 82738 7.25181E-5 41369 0 2.38912E-5
16-56397968-T-A p.Asp550Val missense AMFR 1 82750 1.20846E-5 41375 0 8.37016E-6
16-56397973-C-T p.Thr548Thr synonymous AMFR 1 82724 1.20884E-5 41362 0 6.25E-4
16-56397974-G-A p.Thr548Met missense AMFR 1 82684 1.20942E-5 41342 0 1.19462E-5
16-56397978-C-G p.Glu547Gln missense AMFR 1 82688 1.20937E-5 41344 0 NA
16-56397981-C-G p.Glu546Gln missense AMFR 1 82652 1.20989E-5 41326 0 NA
16-56397986-C-T p.Arg544His missense AMFR 2 82550 2.42277E-5 41275 0 3.18492E-5
16-56397987-G-A p.Arg544Cys missense AMFR 1 82550 1.21139E-5 41275 0 3.18512E-5
16-56398010-C-T p.Arg536His missense AMFR 38 82078 4.62974E-4 41039 0 3.23251E-4
16-56398011-G-A p.Arg536Cys missense AMFR 15 82034 1.82851E-4 41017 0 3.59709E-5
16-56398014-C-T p.Glu535Lys missense AMFR 1 81910 1.22085E-5 40955 0 4.3997E-5
16-56398015-G-A p.Thr534Thr splice_region+synonymous AMFR 6 81878 7.32798E-5 40939 0 7.00548E-4
16-56398016-G-A p.Thr534Ile missense+splice_region AMFR 1 81850 1.22175E-5 40925 0 3.18431E-5
16-56398020-G-GAGCA c.1600-4_1600-3insTGCT splice_region AMFR 2 81708 2.44774E-5 40854 0 NA
16-56398020-G-A c.1600-3C>T splice_region AMFR 3 81710 3.67152E-5 40855 0 NA
16-56398025-C-T c.1600-8G>A splice_region AMFR 3 81428 3.68424E-5 40714 0 6.36821E-5
16-56398025-C-A c.1600-8G>T splice_region AMFR 2 81428 2.45616E-5 40714 0 NA
16-56401352-T-C c.1599+4A>G splice_region AMFR 3141 83148 0.037776 41574 83 0.049444
16-56401372-C-A p.Gly528Val missense AMFR 2 83330 2.4001E-5 41665 0 3.97662E-6
16-56401438-C-T p.Arg506Gln missense+splice_region AMFR 5 83136 6.01424E-5 41568 0 5.57778E-5
16-56401438-C-G p.Arg506Pro missense+splice_region AMFR 2 83136 2.4057E-5 41568 0 NA
16-56401439-G-A p.Arg506Trp missense+splice_region AMFR 8 83124 9.62418E-5 41562 0 1.27584E-4
16-56401442-G-GTGTAGGAAAAGGTACTTGAATCCGTCCTTCTAAAATATTGTCTGTT c.1516-4_1516-3insAACAGACAATATTTTAGAAGGACGGATTCAAGTACCTTTTCCTACA splice_region AMFR 2 83086 2.40714E-5 41543 1 NA
16-56401445-A-C c.1516-6T>G splice_region AMFR 2 83034 2.40865E-5 41517 0 3.18695E-5
16-56403122-C-T p.Val500Ile missense AMFR 1 83306 1.20039E-5 41653 0 NA
16-56403129-C-T p.Arg497Arg synonymous AMFR 2 83296 2.40108E-5 41648 0 6.36765E-5
16-56403130-C-T p.Arg497Gln missense AMFR 2 83302 2.4009E-5 41651 0 1.64832E-5
16-56403159-T-C p.Glu487Glu synonymous AMFR 1 83324 1.20013E-5 41662 0 8.23737E-6
16-56403169-C-T p.Arg484His missense AMFR 2 83328 2.40015E-5 41664 0 2.47113E-5
16-56403177-C-A p.Gln481His missense AMFR 1 83322 1.20016E-5 41661 0 3.18451E-5
16-56403190-A-C p.Leu477Arg missense AMFR 1 83324 1.20013E-5 41662 0 3.97766E-6
16-56403191-G-A p.Leu477Leu synonymous AMFR 1 83322 1.20016E-5 41661 0 3.9781E-6
16-56403210-C-G p.Gln470His missense AMFR 2 83296 2.40108E-5 41648 0 NA
16-56403213-G-C p.Pro469Pro synonymous AMFR 2 83290 2.40125E-5 41645 0 NA
16-56403235-T-A p.His462Leu missense AMFR 1 83244 1.20129E-5 41622 0 3.98425E-6
16-56403236-G-A p.His462Tyr missense AMFR 1 83234 1.20143E-5 41617 0 6.36821E-5
16-56403239-C-A p.Ala461Ser missense+splice_region AMFR 1 83202 1.20189E-5 41601 0 8.26378E-6
16-56419833-T-C p.Met460Val missense+splice_region AMFR 1 83052 1.20406E-5 41526 0 3.9853E-6
16-56419836-C-G p.Ala459Pro missense AMFR 1 83078 1.20369E-5 41539 0 NA
16-56419838-T-C p.Asn458Ser missense AMFR 1 83088 1.20354E-5 41544 0 1.74636E-5
16-56419840-G-A p.Leu457Leu synonymous AMFR 1 83090 1.20351E-5 41545 0 NA
16-56419861-C-T p.Thr450Thr synonymous AMFR 1 83188 1.2021E-5 41594 0 3.18674E-5
16-56419861-C-A p.Thr450Thr synonymous AMFR 1 83188 1.2021E-5 41594 0 3.98045E-6
16-56419862-G-A p.Thr450Met missense AMFR 1 83192 1.20204E-5 41596 0 6.37349E-5
16-56419864-A-T p.Ile449Ile synonymous AMFR 1 83212 1.20175E-5 41606 0 NA
16-56419877-T-C p.Asn445Ser missense AMFR 10 83242 1.20132E-4 41621 0 5.03525E-4
16-56419879-G-A p.Thr444Thr synonymous AMFR 1 83244 1.20129E-5 41622 0 NA
16-56419894-T-C p.Glu439Glu synonymous AMFR 2 83224 2.40315E-5 41612 0 1.99003E-5
16-56419897-A-T p.Val438Val synonymous AMFR 1 83216 1.20169E-5 41608 0 8.61816E-6
16-56419900-C-T p.Ser437Ser synonymous AMFR 4 83190 4.80827E-5 41595 0 6.37918E-5
16-56419901-G-GA p.Ser437fs frameshift AMFR 1 83194 1.20201E-5 41597 0 NA
16-56419921-C-T p.Ala430Ala synonymous AMFR 1 83082 1.20363E-5 41541 0 1.59716E-5
16-56419921-C-G p.Ala430Ala synonymous AMFR 1 83082 1.20363E-5 41541 0 NA
16-56419922-G-A p.Ala430Val missense AMFR 3 83058 3.61193E-5 41529 0 3.18634E-5
16-56419935-C-G c.1277-1G>C splice_acceptor AMFR 1 82884 1.20651E-5 41442 0 NA
16-56419938-A-T c.1277-4T>A splice_region AMFR 1 82798 1.20776E-5 41399 0 8.097E-5
16-56422686-A-C p.Thr167Thr synonymous AMFR 1 14972 6.67913E-5 7486 0 NA
16-56422697-C-T p.Asp164Asn missense AMFR 5 15074 3.31697E-4 7537 0 3.13273E-5
16-56422728-G-A p.Asp153Asp synonymous AMFR 1 15700 6.36943E-5 7850 0 3.18451E-5
16-56422729-T-A p.Asp153Val missense AMFR 1 15832 6.31632E-5 7916 0 NA
16-56422729-T-C p.Asp153Gly missense AMFR 2 15832 1.26326E-4 7916 0 5.47594E-5
16-56422751-T-C p.Met146Val missense AMFR 1 17022 5.87475E-5 8511 0 3.18431E-5
16-56422755-G-A p.Ser144Ser synonymous AMFR 1 17314 5.77567E-5 8657 0 NA
16-56422759-T-C p.Asp143Gly missense AMFR 1 17908 5.5841E-5 8954 0 8.65828E-5
16-56422766-C-T c.422-1G>A splice_acceptor AMFR 1 18988 5.26648E-5 9494 0 NA
16-56423101-G-A p.Phe424Phe synonymous AMFR 2 83324 2.40027E-5 41662 0 1.60386E-5
16-56423112-A-G p.Phe421Leu missense AMFR 1 83354 1.1997E-5 41677 0 NA
16-56423113-G-A p.His420His synonymous AMFR 4 83356 4.79869E-5 41678 0 3.99221E-5
16-56423130-A-C p.Leu415Val missense AMFR 2 83358 2.39929E-5 41679 0 NA
16-56423132-C-T p.Arg414His missense AMFR 6 83362 7.19752E-5 41681 0 1.27405E-4
16-56423145-C-T p.Glu410Lys missense AMFR 1 83360 1.19962E-5 41680 0 1.64987E-5
16-56423146-G-A p.Ala409Ala synonymous AMFR 1 83362 1.19959E-5 41681 0 6.25E-4
16-56423196-C-G p.Glu393Gln missense AMFR 1 83368 1.1995E-5 41684 0 3.97684E-6
16-56423209-A-G p.Asn388Asn synonymous AMFR 1 83364 1.19956E-5 41682 0 3.18471E-5
16-56423217-C-T p.Asp386Asn missense AMFR 1 83366 1.19953E-5 41683 0 1.64756E-5
16-56423218-G-A p.Ala385Ala synonymous AMFR 1 83368 1.1995E-5 41684 0 3.97766E-5
16-56423223-T-G p.Ile384Leu missense AMFR 3 83366 3.59859E-5 41683 0 NA
16-56423233-C-T p.Met380Ile missense AMFR 2 83344 2.39969E-5 41672 0 NA
16-56423242-T-G p.Thr377Thr synonymous AMFR 1 83352 1.19973E-5 41676 0 NA
16-56423276-C-T p.Arg366His missense AMFR 1 83292 1.2006E-5 41646 0 8.03452E-6
16-56423287-G-GTTGTGGAAAAGATGTCCACAGGGCAGTTTCCGCGCAGC c.1086-1_1086insGCTGCGCGGAAACTGCCCTGTGGACATCTTTTCCACAA splice_acceptor AMFR 4 83232 4.80584E-5 41616 1 NA
16-56423294-A-G c.1086-7T>C splice_region AMFR 1 83160 1.2025E-5 41580 0 NA
16-56435667-G-A p.Pro355Ser missense AMFR 4 82488 4.84919E-5 41244 0 6.59957E-5
16-56435675-C-T p.Arg352Gln missense AMFR 3 82572 3.63319E-5 41286 0 8.24851E-6
16-56435752-A-G p.Leu46Ser missense AMFR 6 82276 7.29253E-5 41138 0 9.55475E-5
16-56435758-G-GGCCTCCATGTTTCCAACCACACGTAGATAGTTCTTGTGCCGACGAAT c.975-4_975-3insATTCGTCGGCACAAGAACTATCTACGTGTGGTTGGAAACATGGAGGC splice_region AMFR 2 82070 2.43694E-5 41035 1 NA
16-56435758-G-GGCCTCCA c.975-4_975-3insTGGAGGC splice_region AMFR 2 82070 2.43694E-5 41035 1 NA
16-56436911-T-C p.Glu40Gly missense AMFR 1 83406 1.19895E-5 41703 0 NA
16-56436921-C-T p.Arg317His missense AMFR 1 83404 1.19898E-5 41702 0 6.3674E-5
16-56436922-G-A p.Arg317Cys missense AMFR 1 83402 1.19901E-5 41701 0 3.1839E-5
16-56436935-G-A p.Thr32Ile missense AMFR 1 83410 1.1989E-5 41705 0 NA
16-56436936-T-C p.His312Arg missense AMFR 1 83410 1.1989E-5 41705 0 NA
16-56436940-G-A p.Arg311Trp missense AMFR 1 83412 1.19887E-5 41706 0 8.2375E-6
16-56436942-C-T p.Arg310His missense AMFR 14 83414 1.67838E-4 41707 0 1.6475E-4
16-56436952-G-A p.Arg307Cys missense AMFR 4 83402 4.79605E-5 41701 0 5.03525E-4
16-56436956-C-T p.Cys25Tyr missense AMFR 1 83402 1.19901E-5 41701 0 NA
16-56436959-C-T p.Arg24Lys missense AMFR 1 83402 1.19901E-5 41701 0 8.23818E-6
16-56436962-A-G p.Met23Thr missense AMFR 11 83404 1.31888E-4 41702 0 5.03525E-4
16-56436963-T-C p.His303Arg missense AMFR 1 83404 1.19898E-5 41702 0 3.97674E-6
16-56436976-G-A p.Arg299Cys missense AMFR 1 83392 1.19916E-5 41696 0 NA
16-56437014-C-G p.Trp286Ser missense AMFR 1 83364 1.19956E-5 41682 0 8.27226E-6
16-56437033-TAGAG-T c.841-7_841-4delCTCT splice_region AMFR 1 83292 1.2006E-5 41646 0 5.00943E-5
16-56437034-A-T c.841-4T>A splice_region AMFR 1 83290 1.20062E-5 41645 0 NA
16-56437034-A-AC c.841-5_841-4insG splice_region AMFR 1 83290 1.20062E-5 41645 0 8.3675E-6
16-56438840-A-G p.Met274Thr missense AMFR 5 83300 6.0024E-5 41650 0 1.40635E-4
16-56438841-T-G p.Met274Leu missense AMFR 1 83304 1.20042E-5 41652 0 7.97213E-6
16-56438842-G-C p.Leu273Leu synonymous AMFR 1 83310 1.20034E-5 41655 0 3.1841E-5
16-56438847-C-T p.Asp272Asn missense AMFR 1 83306 1.20039E-5 41653 0 NA
16-56438848-C-T p.Leu271Leu synonymous AMFR 19 83310 2.28064E-4 41655 0 4.45803E-4
16-56438851-G-A p.Ser270Ser synonymous AMFR 2 83308 2.40073E-5 41654 0 NA
16-56438871-T-C p.Met264Val missense AMFR 1 83318 1.20022E-5 41659 0 NA
16-56438884-G-A p.Tyr259Tyr synonymous AMFR 1 83334 1.19999E-5 41667 0 NA
16-56438885-T-A p.Tyr259Phe missense AMFR 1 83334 1.19999E-5 41667 0 NA
16-56438890-G-A p.Val257Val synonymous AMFR 1 83330 1.20005E-5 41665 0 NA
16-56438896-C-T p.Thr255Thr synonymous AMFR 2 83324 2.40027E-5 41662 0 4.37727E-5
16-56438907-C-T p.Gly252Arg missense AMFR 1 83326 1.20011E-5 41663 0 8.25151E-6
16-56438914-C-G p.Thr249Thr synonymous AMFR 85 83326 0.00102009 41663 0 0.00125
16-56438917-C-T p.Gly248Gly synonymous AMFR 1 83332 1.20002E-5 41666 0 3.30049E-5
16-56438922-C-T p.Glu247Lys missense AMFR 59 83332 7.08011E-4 41666 0 5.05461E-4
16-56438923-G-A p.His246His synonymous AMFR 5 83334 5.99995E-5 41667 0 1.40294E-4
16-56438950-G-A p.Tyr237Tyr synonymous AMFR 1 83314 1.20028E-5 41657 0 3.30442E-5
16-56438953-T-C p.Arg236Arg splice_region+synonymous AMFR 2 83322 2.40033E-5 41661 0 1.1965E-5
16-56438960-T-C c.708-7A>G splice_region AMFR 3 83314 3.60084E-5 41657 0 NA
16-56439117-G-A p.Arg236* stop_gained AMFR 5 83246 6.00629E-5 41623 0 NA
16-56439119-A-G p.Leu235Ser missense AMFR 2 83252 2.40234E-5 41626 0 7.97022E-6
16-56439160-T-C c.667-4A>G splice_region AMFR 1 83038 1.20427E-5 41519 0 NA
16-56441868-T-C c.666+8A>G splice_region AMFR 1 83162 1.20247E-5 41581 0 NA
16-56441872-T-G c.666+4A>C splice_region AMFR 1 83146 1.2027E-5 41573 0 3.98378E-6
16-56441893-C-T p.Ala217Thr missense AMFR 1 83244 1.20129E-5 41622 0 5.03525E-4
16-56441903-C-T p.Met213Ile missense AMFR 4 83238 4.8055E-5 41619 0 3.18593E-5
16-56441904-A-G p.Met213Thr missense AMFR 1 83242 1.20132E-5 41621 0 NA
16-56441913-G-A p.Thr210Ile missense AMFR 2 83218 2.40333E-5 41609 0 9.55597E-5
16-56441917-A-G p.Tyr209His missense AMFR 2 83198 2.4039E-5 41599 0 7.959E-6
16-56441921-G-A n.538C>T splice_region AMFR 6 83210 7.21067E-5 41605 0 6.25E-4
16-56441934-A-G p.Val203Ala missense AMFR 1 83136 1.20285E-5 41568 0 3.98835E-6
16-56441935-C-T p.Val203Ile missense AMFR 2 83156 2.40512E-5 41578 0 5.81009E-5
16-56441936-G-A p.Ala202Ala synonymous AMFR 4 83214 4.80688E-5 41607 0 4.37943E-5
16-56441963-C-T p.Met193Ile missense AMFR 1 83234 1.20143E-5 41617 0 8.31048E-6
16-56441964-A-G p.Met193Thr missense AMFR 1 83244 1.20129E-5 41622 0 3.18471E-5
16-56441966-G-A p.Ala192Ala synonymous AMFR 4 83232 4.80584E-5 41616 0 9.97821E-5
16-56441971-C-G p.Val191Leu missense AMFR 2 83208 2.40361E-5 41604 0 1.59179E-5
16-56441974-A-G p.Leu190Leu synonymous AMFR 1 83218 1.20166E-5 41609 0 8.35031E-6
16-56441977-G-T p.Leu189Met missense AMFR 1 83202 1.20189E-5 41601 0 NA
16-56441982-A-G p.Leu187Pro missense AMFR 2 83178 2.40448E-5 41589 0 NA
16-56441988-C-T p.Arg185Gln missense AMFR 10 83152 1.20262E-4 41576 0 1.69328E-4
16-56441989-G-A p.Arg185* stop_gained AMFR 2 83156 2.40512E-5 41578 0 NA
16-56441992-C-T p.Gly184Ser missense AMFR 13 83160 1.56325E-4 41580 0 6.9773E-4
16-56441993-G-A p.His183His synonymous AMFR 4 83146 4.81081E-5 41573 0 5.95856E-5
16-56441996-G-T p.Ser182Arg missense AMFR 1 83132 1.20291E-5 41566 0 NA
16-56441999-G-C p.Ser181Arg missense AMFR 2 83120 2.40616E-5 41560 0 3.58709E-5
16-56442003-A-G p.Met180Thr missense AMFR 1 83110 1.20322E-5 41555 0 NA
16-56442006-G-A p.Pro179Leu missense AMFR 3 83102 3.61002E-5 41551 0 6.19875E-5
16-56442008-C-T p.Thr178Thr synonymous AMFR 11 83078 1.32406E-4 41539 0 5.03525E-4
16-56442018-G-A p.Ser175Leu missense AMFR 4 83026 4.81777E-5 41513 0 3.64611E-5
16-56442020-G-A p.Phe174Phe synonymous AMFR 1 83010 1.20467E-5 41505 0 NA
16-56442133-CT-C n.327-2delA splice_acceptor AMFR 4 76008 5.2626E-5 38004 0 NA
16-56442134-T-A n.327-2A>T splice_acceptor AMFR 1 75892 1.31766E-5 37946 0 NA
16-56443339-T-C p.Glu170Glu synonymous AMFR 1 83216 1.20169E-5 41608 0 8.29752E-6
16-56443343-A-T p.Phe169Tyr missense AMFR 1 83238 1.20137E-5 41619 0 8.28432E-6
16-56443346-C-T p.Arg168Gln missense AMFR 2 83238 2.40275E-5 41619 0 NA
16-56443355-C-G p.Cys165Ser missense AMFR 5 83312 6.00154E-5 41656 0 2.42164E-5
16-56443381-G-C p.Val156Val synonymous AMFR 1 83364 1.19956E-5 41682 0 NA
16-56443403-C-T p.Cys149Tyr missense AMFR 1 83382 1.1993E-5 41691 0 NA
16-56443413-C-T p.Val146Ile missense AMFR 2 83396 2.3982E-5 41698 0 7.95976E-6
16-56443432-G-A p.Val139Val synonymous AMFR 2 83388 2.39843E-5 41694 0 1.19507E-5
16-56443446-C-A p.Gly135Cys missense AMFR 1 83372 1.19944E-5 41686 0 NA
16-56443482-A-C p.Trp123Gly missense AMFR 1 83204 1.20187E-5 41602 0 4.01007E-6
16-56443483-A-C p.Phe122Leu missense AMFR 2 83192 2.40408E-5 41596 0 NA
16-56443486-T-C p.Lys121Lys synonymous AMFR 1 83170 1.20236E-5 41585 0 NA
16-56443487-T-G p.Lys121Thr missense AMFR 1 83156 1.20256E-5 41578 0 4.01936E-6
16-56443504-A-C c.349-4T>G splice_region AMFR 1 82862 1.20683E-5 41431 0 9.0583E-6
16-56448176-C-T p.Val112Val synonymous AMFR 1 83248 1.20123E-5 41624 0 NA
16-56448180-C-G p.Arg111Pro missense AMFR 2 83262 2.40206E-5 41631 0 NA
16-56448181-G-T p.Arg111Arg synonymous AMFR 7 83262 8.4072E-5 41631 0 3.19081E-5
16-56448195-A-T p.Val106Glu missense AMFR 2 83316 2.4005E-5 41658 0 3.97801E-6
16-56448201-C-T p.Cys104Tyr missense AMFR 1 83306 1.20039E-5 41653 0 3.9781E-6
16-56448213-T-C p.Lys100Arg missense AMFR 2 83312 2.40061E-5 41656 0 6.25E-4
16-56448241-C-T p.Ala91Thr missense AMFR 3 83264 3.603E-5 41632 0 3.18634E-5
16-56448254-A-C p.Val86Val splice_region+synonymous AMFR 1 83236 1.2014E-5 41618 0 NA
16-56448257-C-T c.256-1G>A splice_acceptor AMFR 2 83216 2.40338E-5 41608 0 NA
16-56457582-C-T n.526G>A splice_region AMFR 799 24212 0.0330002 12106 14 0.0433106
16-56458743-C-T c.-31G>A splice_region AMFR 3 23718 1.26486E-4 11859 0 NA
16-56458890-T-A c.-98A>T 5_prime_UTR_premature_start_codon_gain AMFR 44 30948 0.00142174 15474 0 0.00632789
16-56458988-C-T p.Val84Val synonymous AMFR 6 35830 1.67457E-4 17915 0 0.00189394
16-56458997-G-A p.Ser81Ser synonymous AMFR 1 36212 2.76152E-5 18106 0 NA
16-56459011-G-A p.Leu77Leu synonymous AMFR 6 36574 1.64051E-4 18287 0 9.62155E-5
16-56459027-G-C p.Arg71Arg synonymous AMFR 1 36156 2.76579E-5 18078 0 NA
16-56459028-C-T p.Arg71His missense AMFR 3 36112 8.30749E-5 18056 0 6.43956E-5
16-56459029-G-A p.Arg71Cys missense AMFR 1 36100 2.77008E-5 18050 0 9.66246E-5
16-56459036-G-A p.Pro68Pro synonymous AMFR 1 35922 2.78381E-5 17961 0 NA
16-56459051-C-T p.Pro63Pro synonymous AMFR 2 35468 5.63889E-5 17734 0 NA
16-56459052-G-C p.Pro63Arg missense AMFR 1 35394 2.82534E-5 17697 0 NA
16-56459053-G-C p.Pro63Ala missense AMFR 1 35366 2.82757E-5 17683 0 NA
16-56459054-C-T p.Arg62Arg synonymous AMFR 2 35310 5.66412E-5 17655 0 NA
16-56459056-G-A p.Arg62Trp missense AMFR 1 35252 2.83672E-5 17626 0 NA
16-56459057-G-A p.Ala61Ala synonymous AMFR 1 35240 2.83768E-5 17620 0 NA
16-56459074-C-T p.Glu56Lys missense AMFR 2 34830 5.74218E-5 17415 0 3.23939E-5
16-56459083-G-A p.Leu53Leu synonymous AMFR 1 35312 2.8319E-5 17656 0 NA
16-56459116-C-G p.Gly42Arg missense AMFR 5 36088 1.3855E-4 18044 0 8.80397E-4
16-56459137-C-T p.Ala35Thr missense AMFR 3 37300 8.0429E-5 18650 0 0.00557621
16-56459141-G-A p.Tyr33Tyr synonymous AMFR 2 38040 5.25762E-5 19020 0 NA
16-56459146-C-T p.Ala32Thr missense AMFR 5 38428 1.30113E-4 19214 1 1.72018E-4
16-56459168-G-A p.Ala24Ala synonymous AMFR 1 39388 2.53884E-5 19694 0 NA
16-56459173-G-A p.Leu23Leu synonymous AMFR 1 39540 2.52908E-5 19770 0 1.38198E-5
16-56459176-C-T p.Gly22Ser missense AMFR 1 39486 2.53254E-5 19743 0 8.2697E-5
16-56459180-G-C p.Leu20Leu synonymous AMFR 1 39774 2.51421E-5 19887 0 1.36091E-5
16-56459183-G-T p.Gly19Gly synonymous AMFR 1 39864 2.50853E-5 19932 0 NA
16-56459184-C-A p.Gly19Val missense AMFR 10 39884 2.50727E-4 19942 0 3.26584E-5
16-56459187-G-A p.Thr18Met missense AMFR 2 39948 5.00651E-5 19974 0 2.70863E-5
16-56459200-G-A p.Leu14Phe missense AMFR 1 39866 2.5084E-5 19933 0 NA
16-56459210-G-A p.Pro10Pro synonymous AMFR 1 39640 2.5227E-5 19820 0 6.53979E-5
16-56459231-C-T p.Leu3Leu synonymous AMFR 1 38278 2.61247E-5 19139 0 1.51391E-5
16-56459233-G-A p.Leu3Leu synonymous AMFR 31 38002 8.15747E-4 19001 0 0.00225419
16-56459235-G-T p.Pro2Gln missense AMFR 1 37940 2.63574E-5 18970 0 NA
16-56459275-T-A c.-36A>T 5_prime_UTR_premature_start_codon_gain AMFR 161 33506 0.00480511 16753 0 0.01219
16-56459308-G-C c.-69C>G 5_prime_UTR_premature_start_codon_gain AMFR 1 29720 3.36474E-5 14860 0 NA