Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-84322983-C-T c.-79C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL3 2 726 0.00275482 363 0 6.42178E-5
15-84324476-T-G c.-33-5T>G splice_region ADAMTSL3 1 82322 1.21474E-5 41161 0 3.18471E-5
15-84324483-T-A c.-31T>A splice_region ADAMTSL3 3 82528 3.63513E-5 41264 0 NA
15-84324488-C-T c.-26C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL3 1 82602 1.21062E-5 41301 0 NA
15-84324496-C-T c.-18C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL3 1 82762 1.20828E-5 41381 0 3.18573E-5
15-84324526-A-T p.Thr5Ser missense ADAMTSL3 7 82986 8.43516E-5 41493 0 1.91119E-4
15-84324527-C-T p.Thr5Met missense ADAMTSL3 12 82982 1.4461E-4 41491 0 0.00100705
15-84324528-G-T p.Thr5Thr synonymous ADAMTSL3 1 82994 1.20491E-5 41497 0 1.66681E-5
15-84324529-A-G p.Ser6Gly missense ADAMTSL3 1 83002 1.20479E-5 41501 0 NA
15-84324531-C-T p.Ser6Ser synonymous ADAMTSL3 1 83004 1.20476E-5 41502 0 NA
15-84324533-C-T p.Pro7Leu missense ADAMTSL3 4 83022 4.818E-5 41511 0 3.98023E-5
15-84324537-G-A p.Trp8* stop_gained ADAMTSL3 1 83030 1.20438E-5 41515 0 NA
15-84324544-C-G p.Leu11Val missense ADAMTSL3 1 83010 1.20467E-5 41505 0 NA
15-84324550-G-C p.Gly13Arg missense ADAMTSL3 1 83038 1.20427E-5 41519 0 1.99049E-5
15-84324553-A-T p.Met14Leu missense ADAMTSL3 1 83024 1.20447E-5 41512 0 NA
15-84324564-G-A p.Met17Ile missense ADAMTSL3 1 82968 1.20528E-5 41484 0 NA
15-84324565-C-T p.His18Tyr missense ADAMTSL3 1 82952 1.20552E-5 41476 0 5.04032E-4
15-84324566-A-C p.His18Pro missense ADAMTSL3 2 82938 2.41144E-5 41469 0 3.20965E-5
15-84324569-C-G p.Ser19Cys missense ADAMTSL3 1 82958 1.20543E-5 41479 0 3.9861E-6
15-84324571-C-T p.Pro20Ser missense ADAMTSL3 3 82936 3.61725E-5 41468 0 3.43059E-5
15-84324578-C-T p.Pro22Leu missense ADAMTSL3 4 82804 4.83068E-5 41402 0 2.61142E-5
15-84324579-G-A p.Pro22Pro synonymous ADAMTSL3 13 82786 1.57031E-4 41393 0 1.67639E-4
15-84324579-G-T p.Pro22Pro synonymous ADAMTSL3 3 82786 3.6238E-5 41393 0 NA
15-84324585-A-G c.69+3A>G splice_region ADAMTSL3 1 82646 1.20998E-5 41323 0 NA
15-84324587-G-A c.69+5G>A splice_region ADAMTSL3 19 82646 2.29896E-4 41323 0 6.37308E-5
15-84373141-A-G p.Thr24Ala missense+splice_region ADAMTSL3 1 83240 1.20135E-5 41620 0 3.18735E-5
15-84373145-C-G p.Thr25Arg missense ADAMTSL3 1 83238 1.20137E-5 41619 0 NA
15-84373152-G-A p.Glu27Glu synonymous ADAMTSL3 1 83258 1.20109E-5 41629 0 NA
15-84373157-C-A p.Ser29Tyr missense ADAMTSL3 8 83270 9.6073E-5 41635 0 8.03552E-4
15-84373177-C-T p.Pro36Ser missense ADAMTSL3 1 83278 1.2008E-5 41639 0 3.97798E-6
15-84373179-C-T p.Pro36Pro synonymous ADAMTSL3 2 83282 2.40148E-5 41641 0 1.64739E-5
15-84373195-C-T p.Pro42Ser missense ADAMTSL3 1 83274 1.20085E-5 41637 0 NA
15-84373204-A-G p.Ser45Gly missense ADAMTSL3 1 83248 1.20123E-5 41624 0 3.9782E-6
15-84373229-A-G p.Glu53Gly missense ADAMTSL3 1 83246 1.20126E-5 41623 0 8.23696E-6
15-84373239-C-T p.Leu56Leu synonymous ADAMTSL3 1 83260 1.20106E-5 41630 0 8.23764E-6
15-84373242-T-G p.Thr57Thr synonymous ADAMTSL3 1 83262 1.20103E-5 41631 0 1.19371E-5
15-84373244-A-T p.Tyr58Phe missense ADAMTSL3 4 83256 4.80446E-5 41628 0 2.38675E-5
15-84373246-C-T p.Arg59Cys missense ADAMTSL3 2 83252 2.40234E-5 41626 0 1.19353E-5
15-84373247-G-T p.Arg59Leu missense ADAMTSL3 2 83252 2.40234E-5 41626 0 1.19347E-5
15-84373247-G-A p.Arg59His missense ADAMTSL3 31 83250 3.72372E-4 41625 1 0.00175838
15-84373247-GC-G p.Tyr60fs frameshift ADAMTSL3 1 83252 1.20117E-5 41626 0 NA
15-84373250-A-G p.Tyr60Cys missense ADAMTSL3 1 83252 1.20117E-5 41626 0 1.56523E-4
15-84373250-A-C p.Tyr60Ser missense ADAMTSL3 1 83252 1.20117E-5 41626 0 8.23805E-6
15-84373268-C-T c.189+8C>T splice_region ADAMTSL3 12 83244 1.44155E-4 41622 0 1.40074E-4
15-84442269-A-G c.190-6A>G splice_region ADAMTSL3 9 82704 1.08822E-4 41352 0 1.99249E-5
15-84442272-T-C c.190-3T>C splice_region ADAMTSL3 4404 82500 0.0533818 41250 118 0.0720093
15-84442274-G-C c.190-1G>C splice_acceptor ADAMTSL3 1 82828 1.20732E-5 41414 0 8.25028E-6
15-84442277-C-G p.Thr64Thr splice_region+synonymous ADAMTSL3 1 82848 1.20703E-5 41424 0 1.59326E-5
15-84442281-A-G p.Arg66Gly missense ADAMTSL3 1 82938 1.20572E-5 41469 0 3.98162E-6
15-84442286-C-T p.Asn67Asn synonymous ADAMTSL3 2 82980 2.41022E-5 41490 0 4.12256E-5
15-84442290-C-T p.Arg69Cys missense ADAMTSL3 1 83018 1.20456E-5 41509 0 3.2111E-5
15-84442291-G-A p.Arg69His missense ADAMTSL3 2 83008 2.40941E-5 41504 0 1.64853E-5
15-84442292-T-C p.Arg69Arg synonymous ADAMTSL3 52 83048 6.26144E-4 41524 0 0.00157071
15-84442302-G-A p.Asp73Asn missense ADAMTSL3 1 83132 1.20291E-5 41566 0 NA
15-84442303-A-G p.Asp73Gly missense ADAMTSL3 4 83142 4.81105E-5 41571 0 NA
15-84442331-C-T p.Gly82Gly synonymous ADAMTSL3 2 83248 2.40246E-5 41624 0 7.56105E-5
15-84442332-G-A p.Asp83Asn missense ADAMTSL3 1 83256 1.20111E-5 41628 0 3.19939E-5
15-84442351-G-A p.Arg89Gln missense ADAMTSL3 1 83270 1.20091E-5 41635 0 NA
15-84442356-T-C p.Cys91Arg missense ADAMTSL3 1 83276 1.20083E-5 41638 0 NA
15-84442359-G-T p.Gly92Trp missense ADAMTSL3 1 83290 1.20062E-5 41645 0 3.19407E-5
15-84442360-G-A p.Gly92Glu missense ADAMTSL3 1 83286 1.20068E-5 41643 0 NA
15-84442389-T-C p.Cys102Arg missense ADAMTSL3 1 83290 1.20062E-5 41645 0 0.0025
15-84442390-G-A p.Cys102Tyr missense ADAMTSL3 2 83292 2.40119E-5 41646 0 4.10961E-6
15-84442399-G-T p.Gly105Val missense ADAMTSL3 2 83298 2.40102E-5 41649 0 NA
15-84473395-C-A c.318-7C>A splice_region ADAMTSL3 3 79566 3.77045E-5 39783 0 3.91298E-5
15-84473405-T-A p.Asn107Lys missense ADAMTSL3 1 80574 1.2411E-5 40287 0 NA
15-84473409-G-GA p.Gly110fs frameshift ADAMTSL3 1 80740 1.23854E-5 40370 0 NA
15-84473424-C-T p.Arg114Trp missense ADAMTSL3 44 80840 5.44285E-4 40420 0 1.31337E-4
15-84473429-C-T p.Tyr115Tyr synonymous ADAMTSL3 1 80962 1.23515E-5 40481 0 NA
15-84473432-G-A p.Lys116Lys synonymous ADAMTSL3 5 81068 6.16766E-5 40534 0 1.31415E-4
15-84473437-G-A p.Cys118Tyr missense ADAMTSL3 3 81142 3.69722E-5 40571 0 2.21347E-5
15-84473444-T-C p.Asn120Asn synonymous ADAMTSL3 2 81008 2.46889E-5 40504 0 1.34383E-5
15-84473446-A-G p.His121Arg missense+splice_region ADAMTSL3 1 81046 1.23387E-5 40523 0 4.44883E-6
15-84473451-A-C c.363+4A>C splice_region ADAMTSL3 2 81008 2.46889E-5 40504 0 4.48274E-6
15-84473454-CATAAA-C c.363+8_363+12delATAAA splice_region ADAMTSL3 1 80882 1.23637E-5 40441 0 6.40123E-5
15-84488555-G-GC c.364-8_364-7insC splice_region ADAMTSL3 6 82736 7.25198E-5 41368 0 2.232E-4
15-84488577-T-A p.Asp126Glu missense ADAMTSL3 13 83106 1.56427E-4 41553 0 2.8677E-4
15-84488577-T-C p.Asp126Asp synonymous ADAMTSL3 1 83106 1.20328E-5 41553 0 NA
15-84488579-CAGA-C p.Glu128del disruptive_inframe_deletion ADAMTSL3 18 83134 2.16518E-4 41567 0 5.03525E-4
15-84488581-G-A p.Glu128Lys missense ADAMTSL3 2 83168 2.40477E-5 41584 0 NA
15-84488594-C-A p.Ala132Asp missense ADAMTSL3 1 83268 1.20094E-5 41634 0 NA
15-84488595-C-A p.Ala132Ala synonymous ADAMTSL3 1 83276 1.20083E-5 41638 0 NA
15-84488596-C-T p.Gln133* stop_gained ADAMTSL3 1 83282 1.20074E-5 41641 0 NA
15-84488608-G-A p.Ala137Thr missense ADAMTSL3 4 83312 4.80123E-5 41656 0 3.69834E-4
15-84488635-CAT-C p.His146fs frameshift ADAMTSL3 5 83320 6.00096E-5 41660 1 7.95399E-6
15-84488636-A-G p.His146Arg missense ADAMTSL3 43659 82968 0.526215 41484 11959 0.65005
15-84488638-T-TAA p.Tyr147fs frameshift ADAMTSL3 5 83340 5.99952E-5 41670 1 7.95342E-6
15-84488646-A-T p.Glu149Asp missense ADAMTSL3 1 83342 1.19988E-5 41671 0 5.76739E-5
15-84488658-A-G p.Arg153Arg synonymous ADAMTSL3 1 83348 1.19979E-5 41674 0 NA
15-84488662-A-G p.Asn155Asp missense ADAMTSL3 1 83346 1.19982E-5 41673 0 NA
15-84488668-C-A p.Pro157Thr missense ADAMTSL3 1 83348 1.19979E-5 41674 0 4.11984E-5
15-84488678-C-T p.Pro160Leu missense ADAMTSL3 6 83356 7.19804E-5 41678 0 3.50855E-4
15-84488678-C-G p.Pro160Arg missense ADAMTSL3 1 83356 1.19967E-5 41678 0 3.97693E-6
15-84488679-G-A p.Pro160Pro synonymous ADAMTSL3 2 83356 2.39935E-5 41678 0 6.25E-4
15-84488690-A-C p.Lys164Thr missense ADAMTSL3 3 83368 3.5985E-5 41684 0 6.36264E-5
15-84488728-G-T p.Ala177Ser missense ADAMTSL3 1 83346 1.19982E-5 41673 0 NA
15-84488740-C-T p.Leu181Leu synonymous ADAMTSL3 141 83340 0.00169186 41670 1 0.00379198
15-84488742-G-C p.Leu181Leu synonymous ADAMTSL3 1 83344 1.19985E-5 41672 0 NA
15-84488744-A-T p.Asp182Val missense ADAMTSL3 1 83340 1.1999E-5 41670 0 NA
15-84488745-T-A p.Asp182Glu missense ADAMTSL3 1 83344 1.19985E-5 41672 0 NA
15-84488748-A-C p.Gly183Gly synonymous ADAMTSL3 1 83336 1.19996E-5 41668 0 NA
15-84488753-G-A p.Arg185His missense ADAMTSL3 15 83320 1.80029E-4 41660 0 3.18817E-4
15-84488762-C-T p.Thr188Met missense ADAMTSL3 4 83310 4.80134E-5 41655 0 5.03525E-4
15-84488763-G-A p.Thr188Thr synonymous ADAMTSL3 1 83296 1.20054E-5 41648 0 3.18208E-5
15-84488764-G-C p.Asp189His missense ADAMTSL3 3 83302 3.60135E-5 41651 0 NA
15-84488765-A-G p.Asp189Gly missense ADAMTSL3 6 83298 7.20305E-5 41649 0 9.06588E-5
15-84488775-C-T p.Asp192Asp synonymous ADAMTSL3 2 83300 2.40096E-5 41650 0 8.24348E-6
15-84488793-C-T p.Ile198Ile synonymous ADAMTSL3 2 83240 2.40269E-5 41620 0 8.24633E-6
15-84488806-A-G c.600+7A>G splice_region ADAMTSL3 2 83176 2.40454E-5 41588 0 NA
15-84506836-G-A c.601-5G>A splice_region ADAMTSL3 1 82898 1.2063E-5 41449 0 NA
15-84506837-G-A c.601-4G>A splice_region ADAMTSL3 1 82896 1.20633E-5 41448 0 NA
15-84506838-C-T c.601-3C>T splice_region ADAMTSL3 8 82894 9.65088E-5 41447 0 1.65607E-5
15-84506852-C-T p.Cys204Cys synonymous ADAMTSL3 1 83004 1.20476E-5 41502 0 1.6527E-5
15-84506853-G-A p.Asp205Asn missense ADAMTSL3 3 83028 3.61324E-5 41514 0 1.22009E-5
15-84506853-G-T p.Asp205Tyr missense ADAMTSL3 2 83028 2.40883E-5 41514 0 NA
15-84506856-C-T p.Arg206Trp missense ADAMTSL3 1 83040 1.20424E-5 41520 0 2.23001E-4
15-84506857-G-C p.Arg206Pro missense ADAMTSL3 1 83054 1.20404E-5 41527 0 2.47713E-5
15-84506857-G-A p.Arg206Gln missense ADAMTSL3 1 83054 1.20404E-5 41527 0 4.12855E-5
15-84506860-A-C p.Gln207Pro missense ADAMTSL3 1 83078 1.20369E-5 41539 0 NA
15-84506864-G-A p.Leu208Leu synonymous ADAMTSL3 18 83106 2.16591E-4 41553 0 7.42476E-5
15-84506866-G-A p.Gly209Glu missense ADAMTSL3 3 83110 3.60967E-5 41555 0 3.87693E-4
15-84506867-A-G p.Gly209Gly synonymous ADAMTSL3 1 83114 1.20317E-5 41557 0 NA
15-84506870-C-T p.Ser210Ser synonymous ADAMTSL3 1 83128 1.20296E-5 41564 0 4.01897E-6
15-84506871-A-G p.Asn211Asp missense ADAMTSL3 1 83130 1.20294E-5 41565 0 1.60659E-5
15-84506872-A-G p.Asn211Ser missense ADAMTSL3 1 83144 1.20273E-5 41572 0 3.18573E-5
15-84506879-G-A p.Lys213Lys synonymous ADAMTSL3 148 83178 0.00177932 41589 1 0.00436334
15-84506887-A-G p.Asn216Ser missense ADAMTSL3 1 83208 1.20181E-5 41604 0 NA
15-84506890-G-A p.Cys217Tyr missense ADAMTSL3 1 83214 1.20172E-5 41607 0 NA
15-84506894-A-C p.Gly218Gly synonymous ADAMTSL3 1 83230 1.20149E-5 41615 0 NA
15-84506904-G-A p.Gly222Ser missense ADAMTSL3 2 83248 2.40246E-5 41624 0 6.36983E-5
15-84506906-C-T p.Gly222Gly synonymous ADAMTSL3 9 83252 1.08106E-4 41626 0 3.20113E-5
15-84506907-G-A p.Asp223Asn missense ADAMTSL3 3 83260 3.60317E-5 41630 0 3.20067E-5
15-84506910-G-C p.Gly224Arg missense ADAMTSL3 2 83266 2.40194E-5 41633 0 6.37064E-5
15-84506913-T-C p.Ser225Pro missense ADAMTSL3 2 83270 2.40183E-5 41635 0 NA
15-84506930-A-T p.Val230Val synonymous ADAMTSL3 2 83264 2.402E-5 41632 0 NA
15-84506931-C-T p.Arg231Trp missense ADAMTSL3 2 83262 2.40206E-5 41631 0 3.20118E-5
15-84506951-C-T p.His237His synonymous ADAMTSL3 1 83244 1.20129E-5 41622 0 2.47361E-5
15-84506964-A-G p.Lys242Glu missense ADAMTSL3 432 83226 0.00519069 41613 3 0.00878869
15-84527515-C-T c.728-3C>T splice_region ADAMTSL3 2 82446 2.42583E-5 41223 0 NA
15-84527536-C-T p.Ala249Val missense ADAMTSL3 5 82708 6.04536E-5 41354 0 3.98251E-6
15-84527549-A-C p.Gly253Gly synonymous ADAMTSL3 2 82692 2.41861E-5 41346 0 NA
15-84527550-A-T p.Ser254Cys missense ADAMTSL3 1 82698 1.20922E-5 41349 0 NA
15-84527554-G-A p.Arg255Gln missense ADAMTSL3 4 82682 4.83781E-5 41341 0 1.23611E-4
15-84527559-G-C p.Val257Leu missense ADAMTSL3 1 82688 1.20937E-5 41344 0 NA
15-84527559-G-A p.Val257Met missense ADAMTSL3 2 82688 2.41873E-5 41344 0 3.98172E-6
15-84527571-G-A p.Val261Met missense ADAMTSL3 1 82610 1.21051E-5 41305 0 1.19491E-5
15-84527571-G-C p.Val261Leu missense ADAMTSL3 3 82610 3.63152E-5 41305 0 NA
15-84539551-T-C c.803-3T>C splice_region ADAMTSL3 1 82918 1.20601E-5 41459 0 9.24984E-6
15-84539557-T-C p.Ile269Thr missense ADAMTSL3 4 82982 4.82032E-5 41491 0 5.26778E-5
15-84539576-A-G p.Gln275Gln synonymous ADAMTSL3 1 83154 1.20259E-5 41577 0 4.25206E-6
15-84539585-A-C p.Lys278Asn missense ADAMTSL3 1 83194 1.20201E-5 41597 0 6.36821E-5
15-84539591-A-G p.Glu280Glu synonymous ADAMTSL3 1 83200 1.20192E-5 41600 0 8.34474E-6
15-84539598-T-C p.Phe283Leu missense ADAMTSL3 1 83216 1.20169E-5 41608 0 NA
15-84539609-C-T p.Pro286Pro synonymous ADAMTSL3 4 83220 4.80654E-5 41610 0 0.00125628
15-84539610-G-A p.Gly287Ser missense ADAMTSL3 1 83212 1.20175E-5 41606 0 NA
15-84539612-C-A p.Gly287Gly synonymous ADAMTSL3 2 83204 2.40373E-5 41602 0 1.20099E-5
15-84539612-C-G p.Gly287Gly synonymous ADAMTSL3 1 83204 1.20187E-5 41602 0 NA
15-84539613-G-A p.Val288Ile missense ADAMTSL3 11 83212 1.32192E-4 41606 0 0.00125628
15-84539615-C-T p.Val288Val synonymous ADAMTSL3 1 83224 1.20158E-5 41612 0 NA
15-84539619-C-G p.Leu290Val missense ADAMTSL3 68014 82862 0.82081 41431 28103 0.839879
15-84539619-CTC-GTT p.Leu290Val missense ADAMTSL3 3 83230 3.60447E-5 41615 0 NA
15-84539621-C-T p.Leu290Leu synonymous ADAMTSL3 8 83226 9.61238E-5 41613 0 6.37024E-5
15-84539622-G-A p.Val291Ile missense ADAMTSL3 6 83228 7.20911E-5 41614 0 5.03525E-4
15-84539633-A-G p.Thr294Thr synonymous ADAMTSL3 1 83240 1.20135E-5 41620 0 8.2728E-6
15-84539647-A-G p.Gln299Arg missense ADAMTSL3 1 83238 1.20137E-5 41619 0 NA
15-84539650-G-A p.Arg300Lys missense ADAMTSL3 1 83240 1.20135E-5 41620 0 8.27417E-6
15-84539653-G-A p.Gly301Asp missense ADAMTSL3 1 83222 1.20161E-5 41611 0 NA
15-84539653-G-T p.Gly301Val missense ADAMTSL3 1 83222 1.20161E-5 41611 0 NA
15-84539657-C-T p.Ser302Ser synonymous ADAMTSL3 1 83208 1.20181E-5 41604 0 3.99687E-6
15-84539663-G-T p.Arg304Ser missense ADAMTSL3 2 83202 2.40379E-5 41601 0 NA
15-84539671-T-A p.Phe307Tyr missense ADAMTSL3 1 83154 1.20259E-5 41577 0 1.65467E-5
15-84539672-T-A p.Phe307Leu missense ADAMTSL3 1 83150 1.20265E-5 41575 0 NA
15-84539673-A-G p.Lys308Glu missense ADAMTSL3 1 83136 1.20285E-5 41568 0 1.99657E-5
15-84539685-C-T p.Pro312Ser missense ADAMTSL3 1 83062 1.20392E-5 41531 0 NA
15-84539691-A-G p.Met314Val missense ADAMTSL3 1 83012 1.20465E-5 41506 0 NA
15-84539692-T-C p.Met314Thr missense ADAMTSL3 2 83002 2.40958E-5 41501 0 NA
15-84539718-T-G c.960+7T>G splice_region ADAMTSL3 5 82684 6.04712E-5 41342 0 3.18492E-5
15-84553845-T-C c.961-8T>C splice_region ADAMTSL3 4 82922 4.82381E-5 41461 0 3.18552E-5
15-84553858-G-C p.Arg322Ser missense ADAMTSL3 1 83036 1.2043E-5 41518 0 NA
15-84553860-A-T p.Tyr323Phe missense ADAMTSL3 2 83056 2.40801E-5 41528 0 NA
15-84553860-A-G p.Tyr323Cys missense ADAMTSL3 2 83056 2.40801E-5 41528 0 NA
15-84553869-C-G p.Ala326Gly missense ADAMTSL3 1 83134 1.20288E-5 41567 0 8.3682E-6
15-84553877-A-G p.Ser329Gly missense ADAMTSL3 2 83166 2.40483E-5 41583 0 3.98007E-6
15-84553879-C-T p.Ser329Ser synonymous ADAMTSL3 1 83144 1.20273E-5 41572 0 3.58266E-5
15-84553880-G-A p.Val330Met missense ADAMTSL3 1 83146 1.2027E-5 41573 0 6.25E-4
15-84553903-G-C p.Gln337His missense ADAMTSL3 1 83164 1.20244E-5 41582 0 NA
15-84553907-A-G p.Ile339Val missense ADAMTSL3 2 83140 2.40558E-5 41570 0 8.32764E-6
15-84553924-A-G p.Arg344Arg synonymous ADAMTSL3 3 83098 3.6102E-5 41549 0 3.97991E-6
15-84553933-C-G p.Asp347Glu missense ADAMTSL3 2 83068 2.40767E-5 41534 0 NA
15-84553935-T-C p.Phe348Ser missense ADAMTSL3 1 83068 1.20383E-5 41534 0 NA
15-84553941-C-T p.Pro350Leu missense ADAMTSL3 2 83038 2.40854E-5 41519 0 1.19475E-5
15-84553942-C-T p.Pro350Pro synonymous ADAMTSL3 1 83032 1.20435E-5 41516 0 NA
15-84553945-C-T p.Cys351Cys synonymous ADAMTSL3 77 82996 9.27756E-4 41498 0 0.00162441
15-84553953-C-T p.Thr354Met missense ADAMTSL3 1 82948 1.20557E-5 41474 0 6.37511E-5
15-84558877-T-C p.Ser363Ser synonymous ADAMTSL3 1 83236 1.2014E-5 41618 0 8.26378E-6
15-84558893-A-T p.Ile369Phe missense ADAMTSL3 1 83260 1.20106E-5 41630 0 NA
15-84558898-C-T p.Arg370Arg synonymous ADAMTSL3 1 83266 1.20097E-5 41633 0 8.24552E-6
15-84558909-T-C p.Val374Ala missense ADAMTSL3 3 83280 3.60231E-5 41640 0 8.24226E-6
15-84558914-C-T p.Pro376Ser missense ADAMTSL3 1 83284 1.20071E-5 41642 0 3.98057E-6
15-84558924-A-T p.Tyr379Phe missense ADAMTSL3 2 83302 2.4009E-5 41651 0 1.98965E-5
15-84558929-C-T p.His381Tyr missense ADAMTSL3 16 83304 1.92068E-4 41652 0 0.00118188
15-84558934-C-T p.Tyr382Tyr synonymous ADAMTSL3 1 83302 1.20045E-5 41651 0 NA
15-84558965-C-T p.Leu393Leu synonymous ADAMTSL3 1 83282 1.20074E-5 41641 0 NA
15-84558981-T-G p.Met398Arg missense ADAMTSL3 1 83242 1.20132E-5 41621 0 7.96857E-6
15-84559000-G-T c.1211+1G>T splice_donor ADAMTSL3 2 83196 2.40396E-5 41598 0 NA
15-84560073-A-G c.1212-8A>G splice_region ADAMTSL3 1 82366 1.21409E-5 41183 0 NA
15-84560087-A-T p.Gly406Gly synonymous ADAMTSL3 1 82540 1.21153E-5 41270 0 NA
15-84560096-G-C p.Glu409Asp missense ADAMTSL3 1 82606 1.21057E-5 41303 0 NA
15-84560112-C-A p.His415Asn missense ADAMTSL3 8 82588 9.68664E-5 41294 0 8.23981E-5
15-84560113-A-T p.His415Leu missense ADAMTSL3 1 82590 1.2108E-5 41295 0 NA
15-84560113-ACTTCCAACCTCTTCCTCGGTGAGTTATATGTTTC-A p.Phe416_Arg421del splice_donor ADAMTSL3 1 82590 1.2108E-5 41295 0 NA
15-84560120-A-G p.Gln417Gln synonymous ADAMTSL3 4 82584 4.84355E-5 41292 0 5.76825E-5
15-84560131-G-A p.Arg421His missense+splice_region ADAMTSL3 2 82452 2.42565E-5 41226 0 8.24131E-6
15-84560134-G-A c.1262+3G>A splice_region ADAMTSL3 1 82472 1.21253E-5 41236 0 NA
15-84561436-C-T p.Arg421Arg splice_region+synonymous ADAMTSL3 1 83096 1.20343E-5 41548 0 NA
15-84561451-T-C p.Pro426Pro synonymous ADAMTSL3 1 83180 1.20221E-5 41590 0 9.09984E-6
15-84561451-T-G p.Pro426Pro synonymous ADAMTSL3 1 83180 1.20221E-5 41590 0 0.00100705
15-84561451-T-A p.Pro426Pro synonymous ADAMTSL3 1 83180 1.20221E-5 41590 0 NA
15-84561466-C-T p.Ser431Ser synonymous ADAMTSL3 2 83286 2.40136E-5 41643 0 5.03525E-4
15-84561468-T-C p.Val432Ala missense ADAMTSL3 45 83292 5.40268E-4 41646 0 0.00453172
15-84561473-T-C p.Cys434Arg missense ADAMTSL3 1 83304 1.20042E-5 41652 0 NA
15-84561494-C-T p.Arg441Trp missense ADAMTSL3 2 83346 2.39964E-5 41673 0 8.35352E-6
15-84561495-G-A p.Arg441Gln missense ADAMTSL3 3 83350 3.59928E-5 41675 0 4.17578E-5
15-84561503-G-T p.Val444Leu missense ADAMTSL3 2 83364 2.39912E-5 41682 0 NA
15-84561511-A-C p.Val446Val synonymous ADAMTSL3 3 83370 3.59842E-5 41685 0 8.31518E-6
15-84561534-T-C p.Ile454Thr missense ADAMTSL3 2 83356 2.39935E-5 41678 0 3.18634E-5
15-84561538-G-T p.Leu455Phe missense ADAMTSL3 2 83358 2.39929E-5 41679 0 NA
15-84561560-A-G p.Met463Val missense ADAMTSL3 1 83366 1.19953E-5 41683 0 3.58035E-5
15-84561565-C-T p.Tyr464Tyr synonymous ADAMTSL3 3 83364 3.59868E-5 41682 0 9.55779E-5
15-84561566-G-A p.Ala465Thr missense ADAMTSL3 3 83360 3.59885E-5 41680 0 6.37024E-5
15-84561570-C-A p.Pro466His missense ADAMTSL3 2 83360 2.39923E-5 41680 0 NA
15-84561575-C-T p.Pro468Ser missense ADAMTSL3 2 83354 2.3994E-5 41677 0 6.36943E-5
15-84561631-G-T p.Glu486Asp missense ADAMTSL3 1 83230 1.20149E-5 41615 0 NA
15-84561641-G-A c.1467+1G>A splice_donor ADAMTSL3 1 83134 1.20288E-5 41567 0 8.52704E-6
15-84561645-G-C c.1467+5G>C splice_region ADAMTSL3 3 83070 3.61141E-5 41535 0 1.99411E-5
15-84566629-G-A p.Arg496Gln missense ADAMTSL3 2 82982 2.41016E-5 41491 0 7.66611E-5
15-84566633-G-A p.Gly497Gly synonymous ADAMTSL3 2 83078 2.40738E-5 41539 0 6.36699E-5
15-84566637-C-T p.Arg499Trp missense ADAMTSL3 16 83060 1.92632E-4 41530 1 1.04545E-4
15-84566638-G-A p.Arg499Gln missense ADAMTSL3 2 83092 2.40697E-5 41546 0 5.03525E-4
15-84566639-G-A p.Arg499Arg synonymous ADAMTSL3 76 83160 9.13901E-4 41580 2 0.00192054
15-84566644-G-A p.Arg501Gln missense ADAMTSL3 6 83208 7.21085E-5 41604 0 5.78905E-5
15-84566652-C-G p.Leu504Val missense ADAMTSL3 1 83252 1.20117E-5 41626 0 NA
15-84566667-C-T p.Arg509Cys missense ADAMTSL3 1 83270 1.20091E-5 41635 0 3.18431E-5
15-84566669-C-T p.Arg509Arg synonymous ADAMTSL3 4 83270 4.80365E-5 41635 0 4.12691E-5
15-84566670-G-A p.Gly510Arg missense ADAMTSL3 2 83272 2.40177E-5 41636 0 3.18471E-5
15-84566686-G-A p.Gly515Asp missense ADAMTSL3 2 83310 2.40067E-5 41655 0 6.25E-4
15-84566712-A-G p.Ile524Val missense ADAMTSL3 2 83328 2.40015E-5 41664 0 8.25464E-6
15-84566716-A-G p.Lys525Arg missense ADAMTSL3 2 83330 2.4001E-5 41665 0 3.97966E-6
15-84566741-G-A p.Pro533Pro synonymous ADAMTSL3 2 83326 2.40021E-5 41663 0 8.29986E-6
15-84566755-A-G p.Lys538Arg missense+splice_region ADAMTSL3 1 83322 1.20016E-5 41661 0 3.18532E-5
15-84566757-G-GACTTTTA c.1615_1615+1insACTTTTA splice_donor ADAMTSL3 1 83318 1.20022E-5 41659 0 3.9931E-6
15-84566758-G-GACAAATAT c.1615+1_1615+2insACAAATAT splice_donor ADAMTSL3 1 83312 1.20031E-5 41656 0 3.9938E-6
15-84568392-T-C c.1616-7T>C splice_region ADAMTSL3 1 82838 1.20718E-5 41419 0 1.21766E-5
15-84568396-T-C c.1616-3T>C splice_region ADAMTSL3 1 82846 1.20706E-5 41423 0 NA
15-84568412-G-A p.Val543Val synonymous ADAMTSL3 1 82938 1.20572E-5 41469 0 2.80652E-5
15-84568414-A-G p.Glu544Gly missense ADAMTSL3 2 82944 2.41127E-5 41472 0 3.1841E-5
15-84568422-T-C p.Leu547Leu synonymous ADAMTSL3 1 82974 1.2052E-5 41487 0 3.18532E-5
15-84568425-C-A p.Pro548Thr missense ADAMTSL3 1 82970 1.20525E-5 41485 0 3.18512E-5
15-84568437-C-G p.Gln552Glu missense ADAMTSL3 1 83014 1.20462E-5 41507 0 NA
15-84568451-A-G p.Leu556Leu synonymous ADAMTSL3 1 83052 1.20406E-5 41526 0 4.51745E-5
15-84568464-A-G p.Ile561Val missense ADAMTSL3 2 83006 2.40946E-5 41503 0 NA
15-84568483-C-T p.Thr567Met missense+splice_region ADAMTSL3 2 82920 2.41196E-5 41460 0 6.36902E-5
15-84568484-G-A c.1700+1G>A splice_donor ADAMTSL3 1 82888 1.20645E-5 41444 0 NA
15-84568484-G-C c.1700+1G>C splice_donor ADAMTSL3 1 82888 1.20645E-5 41444 0 NA
15-84581843-G-C c.1701-1G>C splice_acceptor ADAMTSL3 1 82362 1.21415E-5 41181 0 NA
15-84581858-C-G p.Pro572Arg missense ADAMTSL3 1 82690 1.20934E-5 41345 0 3.1839E-5
15-84581859-C-G p.Pro572Pro synonymous ADAMTSL3 2 82714 2.41797E-5 41357 0 NA
15-84581871-C-T p.Cys576Cys synonymous ADAMTSL3 1 82790 1.20788E-5 41395 0 NA
15-84581873-G-C p.Ser577Thr missense ADAMTSL3 11 82846 1.32776E-4 41423 0 9.97772E-5
15-84581879-C-T p.Thr579Met missense ADAMTSL3 7 82988 8.43495E-5 41494 0 2.39152E-5
15-84581888-C-T p.Pro582Leu missense ADAMTSL3 35 83116 4.21098E-4 41558 0 3.14658E-4
15-84581889-G-A p.Pro582Pro synonymous ADAMTSL3 21948 82530 0.26594 41265 3417 0.311225
15-84581893-G-A p.Val584Met missense ADAMTSL3 2 83146 2.40541E-5 41573 0 9.55718E-5
15-84581896-C-G p.Gln585Glu missense ADAMTSL3 11 83160 1.32275E-4 41580 0 3.58289E-5
15-84581903-G-A p.Arg587His missense ADAMTSL3 1 83166 1.20241E-5 41583 0 3.18593E-5
15-84581904-T-C p.Arg587Arg synonymous ADAMTSL3 48694 82352 0.591291 41176 14756 0.673716
15-84581904-TG-CA p.ArgGlu587ArgLys missense ADAMTSL3 1 83182 1.20218E-5 41591 0 NA
15-84581905-G-A p.Glu588Lys missense ADAMTSL3 7 83184 8.41508E-5 41592 0 2.02966E-4
15-84581908-G-T p.Val589Leu missense ADAMTSL3 1 83198 1.20195E-5 41599 0 8.24362E-6
15-84581917-C-T p.Arg592Cys missense ADAMTSL3 3 83212 3.60525E-5 41606 0 2.47268E-5
15-84581918-G-A p.Arg592His missense ADAMTSL3 1 83216 1.20169E-5 41608 0 0.00100705
15-84581925-C-T p.Leu594Leu synonymous ADAMTSL3 2 83220 2.40327E-5 41610 0 NA
15-84581948-C-T p.Thr602Ile missense ADAMTSL3 2 83206 2.40367E-5 41603 0 NA
15-84581956-C-T p.Pro605Ser missense ADAMTSL3 2 83198 2.4039E-5 41599 0 NA
15-84581958-C-T p.Pro605Pro synonymous ADAMTSL3 38 83196 4.56753E-4 41598 0 0.00251762
15-84581958-C-A p.Pro605Pro synonymous ADAMTSL3 2 83196 2.40396E-5 41598 0 NA
15-84581958-C-G p.Pro605Pro synonymous ADAMTSL3 2 83196 2.40396E-5 41598 0 8.24511E-6
15-84581965-G-C p.Glu608Gln missense ADAMTSL3 1 83190 1.20207E-5 41595 0 NA
15-84581966-A-T p.Glu608Val missense ADAMTSL3 1 83182 1.20218E-5 41591 0 8.24416E-6
15-84581967-G-A p.Glu608Glu synonymous ADAMTSL3 1 83174 1.2023E-5 41587 0 8.24443E-5
15-84581970-T-C p.Cys609Cys synonymous ADAMTSL3 1 83170 1.20236E-5 41585 0 NA
15-84581975-G-T p.Gly611Val missense ADAMTSL3 1 83174 1.2023E-5 41587 0 3.97981E-5
15-84581987-C-A p.Pro615His missense ADAMTSL3 1 83144 1.20273E-5 41572 0 3.97997E-6
15-84581991-C-T p.Thr616Thr synonymous ADAMTSL3 5 83134 6.01439E-5 41567 0 3.30087E-5
15-84581992-G-A p.Glu617Lys missense ADAMTSL3 2 83122 2.4061E-5 41561 0 3.18573E-5
15-84581995-C-T p.Arg618Trp missense ADAMTSL3 12 83128 1.44356E-4 41564 0 7.84192E-4
15-84581996-G-A p.Arg618Gln missense ADAMTSL3 1 83120 1.20308E-5 41560 0 3.18469E-5
15-84582000-C-T p.Pro619Pro synonymous ADAMTSL3 1 83112 1.2032E-5 41556 0 0.00100705
15-84582004-C-G p.Leu621Val missense ADAMTSL3 8 83092 9.62788E-5 41546 0 NA
15-84582004-C-T p.Leu621Phe missense ADAMTSL3 1 83092 1.20349E-5 41546 0 1.65079E-5
15-84582022-G-A p.Glu627Lys missense ADAMTSL3 1 83040 1.20424E-5 41520 0 NA
15-84582027-C-T p.Ser628Ser synonymous ADAMTSL3 1 82996 1.20488E-5 41498 0 NA
15-84582029-C-T p.Pro629Leu missense ADAMTSL3 2 82980 2.41022E-5 41490 0 3.18634E-5
15-84582030-G-A p.Pro629Pro synonymous ADAMTSL3 2 82970 2.41051E-5 41485 0 1.75398E-4
15-84582032-C-T p.Ala630Val missense ADAMTSL3 1 82952 1.20552E-5 41476 0 3.98654E-6
15-84582038-G-A p.Arg632Gln missense ADAMTSL3 2 82938 2.41144E-5 41469 0 1.19626E-5
15-84582040-G-A p.Glu633Lys missense ADAMTSL3 1 82896 1.20633E-5 41448 0 NA
15-84582045-A-G p.Leu634Leu synonymous ADAMTSL3 7 82890 8.44493E-5 41445 0 5.03525E-4
15-84582049-A-T p.Ile636Phe missense ADAMTSL3 3 82866 3.6203E-5 41433 0 6.37308E-5
15-84582064-G-A p.Asp641Asn missense ADAMTSL3 2 82748 2.41698E-5 41374 0 7.98142E-6
15-84582074-C-T p.Thr644Met missense ADAMTSL3 8 82578 9.68781E-5 41289 0 1.59347E-4
15-84582076-A-G p.Thr645Ala missense ADAMTSL3 2 82498 2.4243E-5 41249 0 1.1576E-4
15-84582081-C-T p.Tyr646Tyr synonymous ADAMTSL3 1 82380 1.21389E-5 41190 0 3.99811E-6
15-84582082-G-A p.Asp647Asn missense ADAMTSL3 4 82332 4.85838E-5 41166 0 6.79875E-5
15-84582090-G-A p.Glu649Glu synonymous ADAMTSL3 1 82156 1.2172E-5 41078 0 1.65412E-5
15-84582093-C-T p.Tyr650Tyr synonymous ADAMTSL3 22 82074 2.68051E-4 41037 0 2.54923E-4
15-84582094-G-A p.Ala651Thr missense ADAMTSL3 3 82018 3.65773E-5 41009 0 1.65464E-5
15-84582098-G-A p.Gly652Glu missense ADAMTSL3 1 81934 1.22049E-5 40967 0 NA
15-84582116-C-T p.Ala658Val missense ADAMTSL3 1 81856 1.22166E-5 40928 0 3.18512E-5
15-84582120-A-G p.Thr659Thr synonymous ADAMTSL3 56 81840 6.84262E-4 40920 1 4.02888E-4
15-84582123-C-T p.Cys660Cys synonymous ADAMTSL3 1 81686 1.2242E-5 40843 0 6.25E-4
15-84582124-G-T p.Val661Leu missense ADAMTSL3 42757 75446 0.566723 37723 12168 0.675227
15-84592671-T-C p.Ile668Thr missense ADAMTSL3 2 83174 2.4046E-5 41587 0 NA
15-84592672-A-G p.Ile668Met missense ADAMTSL3 2 83162 2.40494E-5 41581 0 3.98362E-6
15-84592678-G-A p.Val670Val synonymous ADAMTSL3 4 83170 4.80943E-5 41585 0 NA
15-84592680-G-A p.Cys671Tyr missense ADAMTSL3 1 83158 1.20253E-5 41579 0 3.98165E-6
15-84592686-A-G p.His673Arg missense ADAMTSL3 1 83176 1.20227E-5 41588 0 7.9628E-6
15-84592695-C-T p.Thr676Ile missense ADAMTSL3 2 83164 2.40489E-5 41582 0 1.649E-5
15-84592696-C-A p.Thr676Thr synonymous ADAMTSL3 1 83156 1.20256E-5 41578 0 3.98092E-6
15-84592704-C-G p.Thr679Arg missense ADAMTSL3 6 83144 7.2164E-5 41572 0 0.0020141
15-84592710-A-G p.Asn681Ser missense ADAMTSL3 1 83126 1.20299E-5 41563 0 3.98054E-6
15-84592716-G-T p.Ser683Ile missense ADAMTSL3 1 83126 1.20299E-5 41563 0 NA
15-84592718-T-C p.Leu684Leu synonymous ADAMTSL3 1 83126 1.20299E-5 41563 0 NA
15-84592724-G-T p.Asp686Tyr missense ADAMTSL3 1 83128 1.20296E-5 41564 0 3.1839E-5
15-84592726-T-C p.Asp686Asp synonymous ADAMTSL3 1 83106 1.20328E-5 41553 0 3.98153E-6
15-84592727-A-G p.Met687Val missense ADAMTSL3 1 83104 1.20331E-5 41552 0 8.2526E-6
15-84592736-C-T p.Arg690Cys missense ADAMTSL3 4 83054 4.81614E-5 41527 0 3.18492E-5
15-84592737-G-T p.Arg690Leu missense ADAMTSL3 3 83044 3.61254E-5 41522 0 1.59215E-4
15-84592737-G-A p.Arg690His missense ADAMTSL3 8 83044 9.63345E-5 41522 0 6.60873E-5
15-84592745-G-A p.Ala693Thr missense ADAMTSL3 1 83016 1.20459E-5 41508 0 NA
15-84592750-G-A p.Met694Ile missense ADAMTSL3 1 82984 1.20505E-5 41492 0 3.18451E-5
15-84592752-G-A p.Ser695Asn missense ADAMTSL3 2 82970 2.41051E-5 41485 0 NA
15-84592752-G-C p.Ser695Thr missense ADAMTSL3 1 82970 1.20525E-5 41485 0 9.92523E-5
15-84592769-G-C p.Glu701Gln missense ADAMTSL3 1 82786 1.20793E-5 41393 0 NA
15-84592771-G-T p.Glu701Asp missense ADAMTSL3 1 82750 1.20846E-5 41375 0 NA
15-84592782-C-G p.Pro705Arg missense ADAMTSL3 4 82570 4.84437E-5 41285 0 1.59236E-4
15-84592783-C-T p.Pro705Pro splice_region+synonymous ADAMTSL3 114 82556 0.00138088 41278 0 0.00120996
15-84592788-A-G c.2117+3A>G splice_region ADAMTSL3 1 82402 1.21356E-5 41201 0 1.19925E-5
15-84611344-T-C c.2118-4T>C splice_region ADAMTSL3 1 82046 1.21883E-5 41023 0 NA
15-84611353-A-AT p.Val709fs frameshift ADAMTSL3 1 82360 1.21418E-5 41180 0 NA
15-84611355-G-A p.Val709Met missense ADAMTSL3 1 82408 1.21347E-5 41204 0 NA
15-84611367-G-C p.Gly713Arg missense ADAMTSL3 10078 82318 0.122428 41159 695 0.133438
15-84611367-GG-CA p.Gly713Gln missense ADAMTSL3 1 82648 1.20995E-5 41324 0 NA
15-84611370-C-T p.Pro714Ser missense ADAMTSL3 1 82710 1.20904E-5 41355 0 NA
15-84611372-C-T p.Pro714Pro synonymous ADAMTSL3 1 82772 1.20814E-5 41386 0 8.26528E-6
15-84611378-A-C p.Ser716Ser synonymous ADAMTSL3 1 82892 1.20639E-5 41446 0 NA
15-84611386-G-A p.Cys719Tyr missense ADAMTSL3 10 82992 1.20494E-4 41496 0 7.42574E-5
15-84611398-T-G p.Ile723Ser missense ADAMTSL3 1 83008 1.2047E-5 41504 0 1.19531E-5
15-84611402-G-A p.Gln724Gln synonymous ADAMTSL3 1 82986 1.20502E-5 41493 0 NA
15-84611415-T-TA p.Tyr729fs frameshift ADAMTSL3 3 82932 3.61742E-5 41466 0 NA
15-84611440-C-T p.Pro737Leu missense ADAMTSL3 2 82786 2.41587E-5 41393 0 NA
15-84611442-G-GC p.Pro740fs frameshift ADAMTSL3 1 82760 1.20831E-5 41380 0 NA
15-84611444-C-A p.Ala738Ala synonymous ADAMTSL3 1 82752 1.20843E-5 41376 0 NA
15-84611451-G-A p.Glu741Lys missense ADAMTSL3 6 82698 7.25531E-5 41349 0 2.3514E-4
15-84611460-C-T p.Arg744* stop_gained ADAMTSL3 1 82632 1.21018E-5 41316 0 3.98606E-6
15-84611461-G-A p.Arg744Gln missense ADAMTSL3 4 82640 4.84027E-5 41320 0 3.30311E-5
15-84611463-GATGAAAA-G p.Asp745fs frameshift ADAMTSL3 2 82632 2.42037E-5 41316 0 1.19584E-5
15-84611464-A-G p.Asp745Gly missense ADAMTSL3 2 82612 2.42096E-5 41306 0 1.99286E-5
15-84611493-A-G p.Asn755Asp missense ADAMTSL3 1 82460 1.21271E-5 41230 0 NA
15-84611494-A-G p.Asn755Ser missense ADAMTSL3 4 82458 4.85095E-5 41229 0 0.00100705
15-84611505-T-A p.Cys759Ser missense ADAMTSL3 1 82360 1.21418E-5 41180 0 3.99846E-6
15-84611532-T-C p.Trp768Arg missense ADAMTSL3 1 82168 1.21702E-5 41084 0 NA
15-84611540-G-C p.Gln770His missense+splice_region ADAMTSL3 4 82140 4.86973E-5 41070 0 NA
15-84611541-G-A c.2310+1G>A splice_donor ADAMTSL3 1 82112 1.21785E-5 41056 0 NA
15-84611650-C-G c.2311-5C>G splice_region ADAMTSL3 2 82712 2.41803E-5 41356 0 4.04119E-6
15-84611650-C-T c.2311-5C>T splice_region ADAMTSL3 1 82712 1.20901E-5 41356 0 NA
15-84611673-G-A p.Gly777Arg missense ADAMTSL3 9 82680 1.08853E-4 41340 0 0.00125
15-84611680-C-A p.Thr779Asn missense ADAMTSL3 2 82202 2.43303E-5 41101 0 1.73403E-5
15-84611683-A-G p.Gln780Arg missense ADAMTSL3 3 82360 3.64254E-5 41180 0 1.23937E-5
15-84611687-C-T p.Asn781Asn synonymous ADAMTSL3 676 82362 0.00820767 41181 24 0.019129
15-84611691-A-C p.Arg783Arg synonymous ADAMTSL3 1 82416 1.21336E-5 41208 0 NA
15-84611697-A-G p.Thr785Ala missense ADAMTSL3 1 82428 1.21318E-5 41214 0 6.37999E-5
15-84611703-C-T p.Arg787Trp missense ADAMTSL3 25 82430 3.03288E-4 41215 0 2.32128E-4
15-84611703-C-A p.Arg787Arg synonymous ADAMTSL3 1 82430 1.21315E-5 41215 0 NA
15-84611714-A-G p.Leu790Leu synonymous ADAMTSL3 3 82492 3.63672E-5 41246 0 1.59368E-4
15-84611716-C-T p.Thr791Met missense ADAMTSL3 5 82490 6.06134E-5 41245 0 5.03525E-4
15-84611717-G-A p.Thr791Thr synonymous ADAMTSL3 7 82486 8.48629E-5 41243 0 5.03525E-4
15-84611736-C-G p.Leu798Val missense ADAMTSL3 2 82514 2.42383E-5 41257 0 9.09046E-5
15-84611743-A-G p.Asp800Gly missense ADAMTSL3 7 82530 8.48176E-5 41265 0 3.18933E-5
15-84611748-T-C p.Leu802Leu synonymous ADAMTSL3 5 82534 6.05811E-5 41267 0 3.18573E-5
15-84611756-A-T p.Gln804His missense ADAMTSL3 1 82532 1.21165E-5 41266 0 NA
15-84611764-A-G p.Lys807Arg missense ADAMTSL3 5 82516 6.05943E-5 41258 0 3.18451E-5
15-84611766-G-A p.Ala808Thr missense ADAMTSL3 1 82492 1.21224E-5 41246 0 NA
15-84611768-A-G p.Ala808Ala synonymous ADAMTSL3 1 82488 1.2123E-5 41244 0 NA
15-84611770-C-T p.Ser809Leu missense ADAMTSL3 13 82470 1.57633E-4 41235 0 1.65328E-5
15-84611771-G-T p.Ser809Ser synonymous ADAMTSL3 1 82462 1.21268E-5 41231 0 8.26966E-6
15-84611785-G-A p.Cys814Tyr missense ADAMTSL3 83 82372 0.00100762 41186 1 0.00100705
15-84611800-G-A p.Cys819Tyr missense ADAMTSL3 1 82258 1.21569E-5 41129 0 7.99738E-6
15-84611803-C-T p.Pro820Leu missense ADAMTSL3 3 82234 3.64813E-5 41117 0 3.20123E-5
15-84611805-C-T p.Pro821Ser missense ADAMTSL3 1209 82148 0.0147173 41074 22 0.023125
15-84611808-C-T p.His822Tyr missense ADAMTSL3 1 82182 1.21681E-5 41091 0 NA
15-84611815-C-T p.Ala824Val missense ADAMTSL3 1 82094 1.21812E-5 41047 0 4.0408E-6
15-84611817-G-A p.Val825Met missense ADAMTSL3 13 82050 1.5844E-4 41025 0 3.18532E-5
15-84611827-G-C p.Trp828Ser missense ADAMTSL3 2 81812 2.44463E-5 40906 0 NA
15-84611830-C-G p.Ser829Trp missense ADAMTSL3 1 81704 1.22393E-5 40852 0 6.37227E-5
15-84611831-G-A p.Ser829Ser synonymous ADAMTSL3 2 81688 2.44834E-5 40844 0 8.57148E-6
15-84611834-G-A p.Lys830Lys splice_region+synonymous ADAMTSL3 1 81592 1.22561E-5 40796 0 3.18654E-5
15-84611842-C-G c.2490+8C>G splice_region ADAMTSL3 1 81104 1.23298E-5 40552 0 NA
15-84639232-T-G c.2491-4T>G splice_region ADAMTSL3 4 83102 4.81336E-5 41551 0 2.38931E-5
15-84639278-G-A p.Val845Met missense ADAMTSL3 1 83256 1.20111E-5 41628 0 NA
15-84639289-G-C p.Arg848Ser missense ADAMTSL3 3 83286 3.60205E-5 41643 0 2.78465E-5
15-84639289-G-T p.Arg848Ser missense ADAMTSL3 3 83286 3.60205E-5 41643 0 8.23791E-6
15-84639293-G-C p.Ala850Pro missense ADAMTSL3 1 83288 1.20065E-5 41644 0 NA
15-84639305-C-T p.Arg854Trp missense ADAMTSL3 2 83286 2.40136E-5 41643 0 3.18471E-5
15-84639306-G-A p.Arg854Gln missense ADAMTSL3 1 83282 1.20074E-5 41641 0 8.23791E-6
15-84639309-G-A p.Arg855His missense ADAMTSL3 36 83286 4.32246E-4 41643 1 8.40253E-4
15-84639313-C-T p.Ile856Ile synonymous ADAMTSL3 2 83292 2.40119E-5 41646 0 0.00100705
15-84639314-C-T p.Pro857Ser missense ADAMTSL3 1 83296 1.20054E-5 41648 0 NA
15-84639315-C-G p.Pro857Arg missense ADAMTSL3 1 83290 1.20062E-5 41645 0 1.19327E-5
15-84639315-C-T p.Pro857Leu missense ADAMTSL3 1 83290 1.20062E-5 41645 0 3.97757E-6
15-84639335-A-G p.Arg864Gly missense ADAMTSL3 1 83310 1.20034E-5 41655 0 3.1837E-5
15-84639336-G-A p.Arg864Lys missense ADAMTSL3 3 83308 3.60109E-5 41654 0 1.59215E-4
15-84639337-G-T p.Arg864Ser missense ADAMTSL3 1 83302 1.20045E-5 41651 0 NA
15-84639338-G-A p.Asp865Asn missense ADAMTSL3 1 83310 1.20034E-5 41655 0 NA
15-84639350-C-T p.Leu869Phe missense ADAMTSL3 20769 82880 0.250591 41440 2739 0.30793
15-84639352-C-T p.Leu869Leu synonymous ADAMTSL3 16 83300 1.92077E-4 41650 0 0.00100705
15-84639367-T-C p.Ser874Ser synonymous ADAMTSL3 97 83274 0.00116483 41637 1 0.006875
15-84639367-T-G p.Ser874Ser synonymous ADAMTSL3 1 83278 1.2008E-5 41639 0 NA
15-84639392-A-G c.2644+3A>G splice_region ADAMTSL3 1 83196 1.20198E-5 41598 0 NA
15-84639397-T-G c.2644+8T>G splice_region ADAMTSL3 16 83156 1.92409E-4 41578 0 4.12494E-5
15-84651017-T-C c.2645-8T>C splice_region ADAMTSL3 1 82140 1.21743E-5 41070 0 1.73367E-5
15-84651018-C-T c.2645-7C>T splice_region ADAMTSL3 7 81694 8.56856E-5 40847 0 0.00645104
15-84651021-G-T c.2645-4G>T splice_region ADAMTSL3 2 82234 2.43208E-5 41117 0 7.97035E-5
15-84651021-GGA-TGT c.2645-4_2645-2delGGAinsTGT splice_acceptor ADAMTSL3 1 82248 1.21584E-5 41124 0 NA
15-84651022-G-T c.2645-3G>T splice_region ADAMTSL3 1 82288 1.21524E-5 41144 0 NA
15-84651025-A-T p.Lys882Ile missense+splice_region ADAMTSL3 2 82476 2.42495E-5 41238 0 1.69079E-5
15-84651044-G-A p.Lys888Lys synonymous ADAMTSL3 3 82944 3.6169E-5 41472 0 1.68638E-4
15-84651057-G-A p.Glu893Lys missense ADAMTSL3 1433 83010 0.017263 41505 16 0.0185889
15-84651068-G-A p.Pro896Pro synonymous ADAMTSL3 52 83194 6.25045E-4 41597 0 3.38859E-4
15-84651083-C-A p.Val901Val synonymous ADAMTSL3 1 83220 1.20163E-5 41610 0 NA
15-84651084-C-G p.Gln902Glu missense ADAMTSL3 1 83216 1.20169E-5 41608 0 1.19355E-5
15-84651102-A-G p.Thr908Ala missense ADAMTSL3 4 83254 4.80457E-5 41627 0 1.64821E-5
15-84651111-G-A p.Glu911Lys missense ADAMTSL3 1 83282 1.20074E-5 41641 0 NA
15-84651117-C-T p.Arg913Cys missense ADAMTSL3 2 83282 2.40148E-5 41641 0 1.07382E-4
15-84651118-G-A p.Arg913His missense ADAMTSL3 1 83282 1.20074E-5 41641 0 3.19795E-5
15-84651139-G-A p.Ser920Asn missense ADAMTSL3 1 83300 1.20048E-5 41650 0 3.97703E-6
15-84651145-C-A p.Ala922Asp missense ADAMTSL3 2 83312 2.40061E-5 41656 0 NA
15-84651160-A-G p.Asn927Ser missense ADAMTSL3 1 83328 1.20008E-5 41664 0 3.97659E-6
15-84651163-C-T p.Thr928Ile missense ADAMTSL3 1 83326 1.20011E-5 41663 0 3.18918E-5
15-84651165-T-G p.Ser929Ala missense ADAMTSL3 2 83330 2.4001E-5 41665 0 6.58935E-5
15-84651167-C-T p.Ser929Ser synonymous ADAMTSL3 1 83338 1.19993E-5 41669 0 3.19122E-5
15-84651168-G-GT p.Ile931fs frameshift ADAMTSL3 1 83334 1.19999E-5 41667 0 7.95317E-6
15-84651185-C-A p.Pro935Pro synonymous ADAMTSL3 30283 82880 0.365384 41440 5742 0.452669
15-84651186-G-A p.Val936Met missense ADAMTSL3 2 83336 2.39992E-5 41668 0 3.1904E-5
15-84651190-G-A p.Arg937Gln missense ADAMTSL3 1 83348 1.19979E-5 41674 0 1.64731E-5
15-84651225-G-A p.Asp949Asn missense ADAMTSL3 4 83338 4.79973E-5 41669 0 6.25E-4
15-84651231-C-T p.Arg951Cys missense ADAMTSL3 1 83332 1.20002E-5 41666 0 0.00100705
15-84651232-G-A p.Arg951His missense ADAMTSL3 7 83328 8.40054E-5 41664 0 1.07079E-4
15-84651234-T-A p.Cys952Ser missense ADAMTSL3 1 83324 1.20013E-5 41662 0 1.64737E-5
15-84651235-G-T p.Cys952Phe missense ADAMTSL3 2 83322 2.40033E-5 41661 0 3.29473E-5
15-84651252-C-T p.Arg958Trp missense ADAMTSL3 9 83300 1.08043E-4 41650 0 5.03525E-4
15-84651253-G-A p.Arg958Gln missense ADAMTSL3 6 83292 7.20357E-5 41646 0 4.94201E-5
15-84651273-G-T p.Gly965Cys missense ADAMTSL3 2 83252 2.40234E-5 41626 0 1.1932E-5
15-84651290-T-C p.His970His synonymous ADAMTSL3 66919 82774 0.808454 41387 27184 0.844143
15-84651301-C-T p.Ala974Val missense ADAMTSL3 2 83148 2.40535E-5 41574 0 3.18271E-5
15-84651305-C-A p.Pro975Pro synonymous ADAMTSL3 2 83166 2.40483E-5 41583 0 6.25E-4
15-84651305-C-T p.Pro975Pro synonymous ADAMTSL3 1 83166 1.20241E-5 41583 0 3.97801E-6
15-84651305-C-G p.Pro975Pro synonymous ADAMTSL3 2 83166 2.40483E-5 41583 0 3.18695E-5
15-84651306-G-A p.Asp976Asn missense ADAMTSL3 2 83158 2.40506E-5 41579 0 1.64794E-5
15-84651309-A-G p.Ile977Val missense ADAMTSL3 4 83154 4.81035E-5 41577 0 2.47186E-5
15-84651311-C-T p.Ile977Ile synonymous ADAMTSL3 1 83144 1.20273E-5 41572 0 3.18593E-5
15-84651312-G-A p.Gly978Ser missense ADAMTSL3 4 83134 4.81151E-5 41567 0 1.19356E-5
15-84651321-C-T p.Arg981Trp missense ADAMTSL3 129 83112 0.00155212 41556 0 0.00213429
15-84651322-G-A p.Arg981Gln missense ADAMTSL3 2 83116 2.40628E-5 41558 0 4.94413E-5
15-84651334-G-A p.Gly985Asp missense ADAMTSL3 1 83090 1.20351E-5 41545 0 NA
15-84651335-C-G p.Gly985Gly synonymous ADAMTSL3 6 83084 7.22161E-5 41542 0 6.36943E-5
15-84651338-T-C p.Ser986Ser synonymous ADAMTSL3 3 83070 3.61141E-5 41535 0 1.64813E-5
15-84651341-A-G p.Ala987Ala synonymous ADAMTSL3 1 83054 1.20404E-5 41527 0 NA
15-84651343-A-G p.Gln988Arg missense ADAMTSL3 2 83062 2.40784E-5 41531 0 NA
15-84651344-G-A p.Gln988Gln synonymous ADAMTSL3 1 83052 1.20406E-5 41526 0 6.25E-4
15-84651359-C-G p.Leu993Leu synonymous ADAMTSL3 6 83040 7.22543E-5 41520 0 1.15397E-4
15-84651363-C-T p.Leu995Phe missense ADAMTSL3 7 83026 8.43109E-5 41513 0 4.77525E-5
15-84651375-G-T p.Asp999Tyr missense ADAMTSL3 1 82980 1.20511E-5 41490 0 NA
15-84651376-A-T p.Asp999Val missense ADAMTSL3 1 82968 1.20528E-5 41484 0 NA
15-84651381-C-T p.Arg1001Trp missense ADAMTSL3 3 82966 3.61594E-5 41483 0 1.81425E-4
15-84651386-C-A p.Leu1002Leu synonymous ADAMTSL3 22 82920 2.65316E-4 41460 2 8.41085E-4
15-84651387-A-T p.Ile1003Phe missense ADAMTSL3 1 82920 1.20598E-5 41460 0 NA
15-84651394-G-A p.Arg1005His missense ADAMTSL3 2 82802 2.4154E-5 41401 0 1.59338E-5
15-84651410-G-A p.Glu1010Glu synonymous ADAMTSL3 1 82702 1.20916E-5 41351 0 3.98438E-6
15-84651411-C-T p.Pro1011Ser missense ADAMTSL3 1 82698 1.20922E-5 41349 0 7.96959E-6
15-84651414-A-G p.Met1012Val missense ADAMTSL3 1 82692 1.20931E-5 41346 0 8.24987E-6
15-84651414-A-C p.Met1012Leu missense ADAMTSL3 1 82692 1.20931E-5 41346 0 1.64997E-5
15-84651417-A-T p.Arg1013Trp missense ADAMTSL3 1 82660 1.20978E-5 41330 0 NA
15-84651427-C-T p.Pro1016Leu missense ADAMTSL3 1 82568 1.21112E-5 41284 0 3.9868E-6
15-84651438-C-T p.His1020Tyr missense ADAMTSL3 1 82476 1.21247E-5 41238 0 NA
15-84651439-A-G p.His1020Arg missense ADAMTSL3 2 82454 2.42559E-5 41227 0 8.25369E-6
15-84651440-CAGCGAAGCCAAT-C p.Glu1022_Ser1025del disruptive_inframe_deletion ADAMTSL3 363 82446 0.00440288 41223 5 0.00859763
15-84651442-G-C p.Ser1021Thr missense ADAMTSL3 2 82368 2.42813E-5 41184 0 NA
15-84651443-C-T p.Ser1021Ser synonymous ADAMTSL3 2 82336 2.42907E-5 41168 0 9.55901E-5
15-84651444-G-A p.Glu1022Lys missense ADAMTSL3 3 82310 3.64476E-5 41155 0 NA
15-84651460-G-T p.Gly1027Val missense ADAMTSL3 1 82218 1.21628E-5 41109 0 3.18512E-5
15-84651479-G-T p.Met1033Ile missense ADAMTSL3 2 82170 2.43398E-5 41085 0 6.37064E-5
15-84651480-AG-A p.Arg1034fs frameshift ADAMTSL3 1 82160 1.21714E-5 41080 0 NA
15-84651483-C-A p.Gln1035Lys missense ADAMTSL3 1 82108 1.21791E-5 41054 0 NA
15-84651488-G-A p.Met1036Ile missense ADAMTSL3 1 82112 1.21785E-5 41056 0 2.27658E-4
15-84651497-C-T p.Asn1039Asn synonymous ADAMTSL3 1 82140 1.21743E-5 41070 0 8.25641E-6
15-84651503-T-C p.Asn1041Asn synonymous ADAMTSL3 4 82170 4.86796E-5 41085 0 0.00151057
15-84651524-C-A p.Asp1048Glu missense ADAMTSL3 61 82426 7.40058E-4 41213 1 0.0011246
15-84651525-C-T p.His1049Tyr missense ADAMTSL3 1 82440 1.213E-5 41220 0 3.98775E-6
15-84651527-CATT-C p.Ile1050del disruptive_inframe_deletion ADAMTSL3 1 82488 1.2123E-5 41244 0 NA
15-84651540-C-G p.Pro1054Ala missense ADAMTSL3 1 82632 1.21018E-5 41316 0 3.98613E-6
15-84651544-T-C p.Phe1055Ser missense ADAMTSL3 2 82664 2.41943E-5 41332 0 NA
15-84651552-G-T p.Ala1058Ser missense ADAMTSL3 1 82696 1.20925E-5 41348 0 5.03525E-4
15-84651553-C-T p.Ala1058Val missense ADAMTSL3 81 82704 9.79396E-4 41352 1 0.00219787
15-84651561-G-T p.Gly1061Cys missense ADAMTSL3 1 82774 1.20811E-5 41387 0 NA
15-84651567-T-A p.Cys1063Ser missense ADAMTSL3 1 82764 1.20825E-5 41382 0 3.18471E-5
15-84651577-C-G p.Ser1066Cys missense ADAMTSL3 1 82800 1.20773E-5 41400 0 NA
15-84651578-T-C p.Ser1066Ser synonymous ADAMTSL3 1 82806 1.20764E-5 41403 0 8.26337E-6
15-84651585-A-G p.Ser1069Gly missense ADAMTSL3 1 82764 1.20825E-5 41382 0 NA
15-84651625-C-T p.Ala1082Val missense ADAMTSL3 7 82804 8.4537E-5 41402 0 1.27356E-4
15-84651630-G-A p.Val1084Ile missense ADAMTSL3 5 82814 6.03763E-5 41407 0 3.30513E-5
15-84651671-T-G p.Asp1097Glu missense ADAMTSL3 1 82970 1.20525E-5 41485 0 NA
15-84651677-G-A p.Leu1099Leu synonymous ADAMTSL3 1 82988 1.20499E-5 41494 0 NA
15-84651691-G-C p.Ser1104Thr missense ADAMTSL3 1 82998 1.20485E-5 41499 0 NA
15-84651699-A-T p.Met1107Leu missense ADAMTSL3 1 83010 1.20467E-5 41505 0 3.18512E-5
15-84651708-G-A p.Gly1110Arg missense ADAMTSL3 2 82992 2.40987E-5 41496 0 2.78587E-5
15-84651719-C-T p.Ser1113Ser synonymous ADAMTSL3 11 82958 1.32597E-4 41479 0 6.25E-4
15-84651720-G-A p.Asp1114Asn missense ADAMTSL3 1 82984 1.20505E-5 41492 0 8.35615E-5
15-84651721-A-G p.Asp1114Gly missense ADAMTSL3 1 82978 1.20514E-5 41489 0 NA
15-84651731-G-A p.Ala1117Ala synonymous ADAMTSL3 2118 82874 0.0255569 41437 151 0.051148
15-84651738-C-A p.Leu1120Met missense ADAMTSL3 4 82924 4.82369E-5 41462 0 9.55292E-5
15-84651743-A-G p.Ile1121Met missense ADAMTSL3 1 82942 1.20566E-5 41471 0 8.25914E-6
15-84651753-G-T p.Val1125Leu missense ADAMTSL3 1 82916 1.20604E-5 41458 0 NA
15-84651758-C-T p.Ala1126Ala synonymous ADAMTSL3 1 82946 1.2056E-5 41473 0 2.47525E-5
15-84651759-G-A p.Glu1127Lys missense ADAMTSL3 3 82974 3.61559E-5 41487 0 1.94953E-4
15-84651763-T-C p.Leu1128Ser missense ADAMTSL3 2 83008 2.40941E-5 41504 0 3.97807E-6
15-84651779-A-C p.Pro1133Pro synonymous ADAMTSL3 13 83072 1.56491E-4 41536 0 4.77798E-4
15-84651787-T-C p.Met1136Thr missense ADAMTSL3 2 83066 2.40772E-5 41533 0 6.25E-4
15-84651793-G-T p.Trp1138Leu missense ADAMTSL3 1 83066 1.20386E-5 41533 0 NA
15-84651795-C-T p.Arg1139Trp missense ADAMTSL3 3 83058 3.61193E-5 41529 0 2.78609E-5
15-84651796-G-A p.Arg1139Gln missense ADAMTSL3 14 83062 1.68549E-4 41531 0 9.82432E-4
15-84651821-T-C p.Pro1147Pro synonymous ADAMTSL3 2 82980 2.41022E-5 41490 0 NA
15-84651830-G-A p.Gln1150Gln synonymous ADAMTSL3 1 83070 1.2038E-5 41535 0 3.97883E-6
15-84651840-G-A p.Glu1154Lys missense ADAMTSL3 1 83128 1.20296E-5 41564 0 8.25668E-6
15-84651844-C-G p.Thr1155Arg missense ADAMTSL3 1 83142 1.20276E-5 41571 0 NA
15-84651850-G-A p.Ser1157Asn missense ADAMTSL3 2 83154 2.40518E-5 41577 0 NA
15-84651854-GT-CC p.ValSer1158ValPro missense ADAMTSL3 1 83174 1.2023E-5 41587 0 NA
15-84651865-C-G p.Ser1162Trp missense ADAMTSL3 2 83196 2.40396E-5 41598 0 4.95769E-5
15-84651866-G-A p.Ser1162Ser synonymous ADAMTSL3 167 83196 0.00200731 41598 0 0.0048172
15-84651869-T-C p.His1163His synonymous ADAMTSL3 1 83216 1.20169E-5 41608 0 NA
15-84651877-A-C p.Asn1166Thr missense ADAMTSL3 1 83206 1.20184E-5 41603 0 0.00805639
15-84651878-C-T p.Asn1166Asn synonymous ADAMTSL3 1 83222 1.20161E-5 41611 0 1.40556E-4
15-84651887-G-T p.Lys1169Asn missense ADAMTSL3 2 83212 2.4035E-5 41606 0 1.99217E-5
15-84651890-G-A p.Leu1170Leu synonymous ADAMTSL3 1 83214 1.20172E-5 41607 0 NA
15-84651893-A-G p.Thr1171Thr synonymous ADAMTSL3 14 83212 1.68245E-4 41606 0 2.89457E-4
15-84651902-G-GA p.Gly1176fs frameshift ADAMTSL3 1 83240 1.20135E-5 41620 0 NA
15-84651905-A-G p.Lys1175Lys synonymous ADAMTSL3 1 83232 1.20146E-5 41616 0 NA
15-84651941-A-G p.Ser1187Ser synonymous ADAMTSL3 1 83230 1.20149E-5 41615 0 NA
15-84651941-A-C p.Ser1187Ser synonymous ADAMTSL3 1 83230 1.20149E-5 41615 0 3.18512E-5
15-84651971-G-T p.Arg1197Ser missense ADAMTSL3 1 83238 1.20137E-5 41619 0 NA
15-84651990-A-G p.Ile1204Val missense ADAMTSL3 1 83260 1.20106E-5 41630 0 1.71421E-4
15-84652015-A-G p.Asn1212Ser missense ADAMTSL3 3 83308 3.60109E-5 41654 0 NA
15-84652017-A-G p.Ile1213Val missense ADAMTSL3 1 83306 1.20039E-5 41653 0 8.52413E-6
15-84652040-C-T p.Pro1220Pro synonymous ADAMTSL3 1 83274 1.20085E-5 41637 0 3.18512E-5
15-84652071-G-A p.Gly1231Arg missense ADAMTSL3 3 82800 3.62319E-5 41400 0 3.18431E-5
15-84652075-C-A p.Thr1232Asn missense ADAMTSL3 2 82784 2.41593E-5 41392 0 1.54124E-5
15-84652079-G-A p.Leu1233Leu synonymous ADAMTSL3 1 82384 1.21383E-5 41192 0 3.18573E-5
15-84652079-G-C p.Leu1233Phe missense ADAMTSL3 2 82384 2.42766E-5 41192 0 NA
15-84652091-A-T p.Ser1237Ser synonymous ADAMTSL3 1 81854 1.22169E-5 40927 0 NA
15-84652103-A-G c.3716+7A>G splice_region ADAMTSL3 2 80616 2.4809E-5 40308 0 NA
15-84657442-G-A c.3717-1G>A splice_acceptor ADAMTSL3 2 82038 2.43789E-5 41019 0 NA
15-84657453-GA-AT p.Asp1243Ile missense ADAMTSL3 2 82272 2.43096E-5 41136 0 NA
15-84657454-A-T p.Asp1243Val missense ADAMTSL3 2 82270 2.43102E-5 41135 0 4.03532E-6
15-84657464-G-C p.Gly1246Gly synonymous ADAMTSL3 7 82696 8.46474E-5 41348 0 1.59449E-4
15-84657474-A-G p.Ile1250Val missense ADAMTSL3 1 82772 1.20814E-5 41386 0 NA
15-84657495-GAAC-G p.Gln1258del conservative_inframe_deletion ADAMTSL3 35 82792 4.22746E-4 41396 1 0.00178583
15-84657496-A-G p.Glu1257Gly missense ADAMTSL3 1 82772 1.20814E-5 41386 0 8.29834E-6
15-84657497-A-G p.Glu1257Glu synonymous ADAMTSL3 4 82756 4.83349E-5 41378 0 1.65475E-5
15-84657504-A-G p.Ile1260Val missense ADAMTSL3 2 82712 2.41803E-5 41356 0 8.27431E-6
15-84657507-T-C p.Tyr1261His missense ADAMTSL3 2 82688 2.41873E-5 41344 0 6.25E-4
15-84657519-G-A p.Val1265Ile missense ADAMTSL3 1 82564 1.21118E-5 41282 0 NA
15-84657540-G-C p.Asp1272His missense ADAMTSL3 4 81958 4.88055E-5 40979 0 7.46727E-5
15-84657550-G-A p.Ser1275Asn missense ADAMTSL3 3 81440 3.68369E-5 40720 0 3.19366E-5
15-84657551-T-G p.Ser1275Arg missense ADAMTSL3 1 81452 1.22772E-5 40726 0 8.3033E-6
15-84657574-A-G c.3844+4A>G splice_region ADAMTSL3 2 76854 2.60234E-5 38427 0 NA
15-84659854-G-A p.Leu1287Leu synonymous ADAMTSL3 4 83396 4.79639E-5 41698 0 4.9425E-5
15-84659861-G-C p.Glu1290Gln missense ADAMTSL3 1 83400 1.19904E-5 41700 0 8.2371E-6
15-84659869-T-C p.Asn1292Asn synonymous ADAMTSL3 2 83402 2.39802E-5 41701 0 8.23696E-6
15-84659874-C-G p.Thr1294Ser missense ADAMTSL3 2 83408 2.39785E-5 41704 0 2.47097E-5
15-84659877-A-G p.Lys1295Arg missense ADAMTSL3 1 83408 1.19893E-5 41704 0 1.64731E-5
15-84659880-C-T p.Pro1296Leu missense ADAMTSL3 2 83408 2.39785E-5 41704 0 3.1839E-5
15-84659895-T-C p.Leu1301Pro missense ADAMTSL3 1 83408 1.19893E-5 41704 0 3.97665E-6
15-84659900-G-A p.Val1303Ile missense ADAMTSL3 4 83408 4.7957E-5 41704 0 9.55049E-5
15-84659906-G-T p.Val1305Phe missense ADAMTSL3 1 83412 1.19887E-5 41706 0 NA
15-84659909-G-C p.Gly1306Arg missense ADAMTSL3 1 83410 1.1989E-5 41705 0 NA
15-84659917-C-T p.Ile1308Ile synonymous ADAMTSL3 2 83410 2.39779E-5 41705 0 5.03525E-4
15-84659918-G-A p.Val1309Met missense ADAMTSL3 4 83410 4.79559E-5 41705 0 3.18431E-5
15-84659924-G-A p.Ala1311Thr missense ADAMTSL3 1 83406 1.19895E-5 41703 0 NA
15-84659934-G-A p.Gly1314Glu missense ADAMTSL3 1 83402 1.19901E-5 41701 0 8.23683E-6
15-84659941-C-T p.Asn1316Asn synonymous ADAMTSL3 3 83394 3.59738E-5 41697 0 NA
15-84659942-G-A p.Val1317Met missense ADAMTSL3 3 83394 3.59738E-5 41697 0 8.2371E-6
15-84659942-G-C p.Val1317Leu missense ADAMTSL3 1 83394 1.19913E-5 41697 0 1.19298E-5
15-84659944-G-A p.Val1317Val synonymous ADAMTSL3 2 83392 2.39831E-5 41696 0 NA
15-84659955-G-A p.Cys1321Tyr missense ADAMTSL3 2 83390 2.39837E-5 41695 0 3.9769E-6
15-84659967-G-A c.3973+1G>A splice_donor ADAMTSL3 1 83382 1.1993E-5 41691 0 NA
15-84683309-A-G p.Asn1330Ser missense ADAMTSL3 2 83268 2.40188E-5 41634 0 3.97972E-6
15-84683310-T-C p.Asn1330Asn synonymous ADAMTSL3 2 83272 2.40177E-5 41636 0 8.23968E-6
15-84683312-T-G p.Ile1331Arg missense ADAMTSL3 10 83274 1.20086E-4 41637 0 2.86661E-4
15-84683320-T-C p.Leu1334Leu synonymous ADAMTSL3 7 83274 8.40599E-5 41637 0 1.56531E-4
15-84683322-G-A p.Leu1334Leu synonymous ADAMTSL3 1 83278 1.2008E-5 41639 0 NA
15-84683328-A-G p.Arg1336Arg synonymous ADAMTSL3 4 83272 4.80354E-5 41636 0 3.97874E-6
15-84683331-A-C p.Gly1337Gly synonymous ADAMTSL3 1 83278 1.2008E-5 41639 0 NA
15-84683335-T-A p.Ser1339Thr missense ADAMTSL3 2 83270 2.40183E-5 41635 0 3.18634E-5
15-84683338-C-T p.Leu1340Leu synonymous ADAMTSL3 4 83266 4.80388E-5 41633 0 6.37105E-5
15-84683344-G-A p.Gly1342Ser missense ADAMTSL3 4 83266 4.80388E-5 41633 0 2.18853E-4
15-84683349-T-C p.Asn1343Asn synonymous ADAMTSL3 1 83276 1.20083E-5 41638 0 NA
15-84683352-T-G p.Val1344Val synonymous ADAMTSL3 1 83272 1.20088E-5 41636 0 3.9789E-6
15-84683353-T-C p.Ser1345Pro missense ADAMTSL3 1 83268 1.20094E-5 41634 0 5.03525E-4
15-84683360-T-G p.Leu1347Arg missense ADAMTSL3 2 83262 2.40206E-5 41631 0 NA
15-84683366-A-G p.Asn1349Ser missense ADAMTSL3 1 83252 1.20117E-5 41626 0 3.29516E-5
15-84683371-T-C p.Ser1351Pro missense ADAMTSL3 4 83256 4.80446E-5 41628 0 0.00125
15-84683376-G-C p.Leu1352Leu synonymous ADAMTSL3 1 83248 1.20123E-5 41624 0 NA
15-84683383-C-T p.Gln1355* stop_gained ADAMTSL3 1 83266 1.20097E-5 41633 0 NA
15-84683397-T-C p.Leu1359Leu synonymous ADAMTSL3 11 83216 1.32186E-4 41608 0 6.37064E-5
15-84683402-A-G p.Asn1361Ser missense ADAMTSL3 1 83200 1.20192E-5 41600 0 NA
15-84683411-C-T p.Thr1364Ile missense ADAMTSL3 6 83164 7.21466E-5 41582 0 2.4841E-4
15-84683411-C-G p.Thr1364Ser missense ADAMTSL3 1 83164 1.20244E-5 41582 0 3.18552E-5
15-84683412-C-G p.Thr1364Thr synonymous ADAMTSL3 1 83168 1.20239E-5 41584 0 NA
15-84683414-A-T p.Tyr1365Phe missense ADAMTSL3 2 83154 2.40518E-5 41577 0 3.18492E-5
15-84683415-C-T p.Tyr1365Tyr synonymous ADAMTSL3 6 83156 7.21535E-5 41578 0 5.03525E-4
15-84683416-G-T p.Val1366Phe missense ADAMTSL3 20 83154 2.40518E-4 41577 0 2.86716E-4
15-84683416-G-A p.Val1366Ile missense ADAMTSL3 1 83154 1.20259E-5 41577 0 3.18573E-5
15-84683422-A-G p.Ile1368Val missense ADAMTSL3 1 83154 1.20259E-5 41577 0 8.09664E-6
15-84683428-A-G p.Thr1370Ala missense ADAMTSL3 1706 83094 0.020531 41547 90 0.0456313
15-84683432-A-G p.Asn1371Ser missense ADAMTSL3 1 83108 1.20325E-5 41554 0 8.4004E-6
15-84683434-G-A p.Ala1372Thr missense ADAMTSL3 1 83102 1.20334E-5 41551 0 NA
15-84683435-C-G p.Ala1372Gly missense ADAMTSL3 1 83094 1.20346E-5 41547 0 NA
15-84683446-G-A p.Ala1376Thr missense ADAMTSL3 1 83038 1.20427E-5 41519 0 NA
15-84683449-G-A p.Val1377Met missense ADAMTSL3 7 83026 8.43109E-5 41513 0 5.04541E-4
15-84683462-T-C p.Val1381Ala missense ADAMTSL3 1 82940 1.20569E-5 41470 0 2.80689E-5
15-84683465-T-A p.Leu1382His missense ADAMTSL3 17 82920 2.05017E-4 41460 0 5.73394E-4
15-84683467-C-T p.His1383Tyr missense ADAMTSL3 6 82918 7.23606E-5 41459 0 6.37186E-5
15-84685128-T-C c.4157-7T>C splice_region ADAMTSL3 10 82906 1.20619E-4 41453 0 2.00786E-4
15-84685133-AG-A c.4157-1delG splice_acceptor ADAMTSL3 2 82970 2.41051E-5 41485 0 8.08146E-6
15-84685138-G-A p.Arg1387Gln missense ADAMTSL3 1 83030 1.20438E-5 41515 0 8.32917E-6
15-84685148-A-G p.Pro1390Pro synonymous ADAMTSL3 22 83142 2.64608E-4 41571 0 6.69301E-4
15-84685149-G-C p.Glu1391Gln missense ADAMTSL3 1 83144 1.20273E-5 41572 0 1.19463E-5
15-84685161-G-A p.Val1395Ile missense ADAMTSL3 6 83182 7.2131E-5 41591 0 6.38284E-5
15-84685168-T-C p.Leu1397Pro missense ADAMTSL3 76 83206 9.13396E-4 41603 0 0.00117879
15-84685169-G-A p.Leu1397Leu synonymous ADAMTSL3 4 83214 4.80688E-5 41607 0 2.49393E-5
15-84685171-A-C p.Gln1398Pro missense ADAMTSL3 1 83222 1.20161E-5 41611 0 8.31601E-6
15-84685179-A-G p.Lys1401Glu missense ADAMTSL3 2 83250 2.4024E-5 41625 0 6.37105E-5
15-84685186-A-G p.Tyr1403Cys missense ADAMTSL3 1 83240 1.20135E-5 41620 0 1.66531E-5
15-84685193-C-T p.Leu1405Leu synonymous ADAMTSL3 3 83260 3.60317E-5 41630 0 9.56084E-5
15-84685195-A-G p.Gln1406Arg missense ADAMTSL3 2 83260 2.40211E-5 41630 0 8.3446E-6
15-84685195-A-C p.Gln1406Pro missense ADAMTSL3 1 83260 1.20106E-5 41630 0 NA
15-84685201-C-T p.Thr1408Ile missense ADAMTSL3 1 83270 1.20091E-5 41635 0 6.25E-4
15-84685206-A-G p.Thr1410Ala missense ADAMTSL3 1 83254 1.20114E-5 41627 0 3.98146E-6
15-84685208-T-A p.Thr1410Thr synonymous ADAMTSL3 1 83242 1.20132E-5 41621 0 6.37227E-5
15-84685231-C-T p.Thr1418Ile missense ADAMTSL3 17 83200 2.04327E-4 41600 0 0.00353526
15-84685237-A-G p.Glu1420Gly missense ADAMTSL3 3 83156 3.60768E-5 41578 0 NA
15-84685238-AC-A p.Pro1422fs frameshift ADAMTSL3 1 83134 1.20288E-5 41567 0 3.19734E-5
15-84685243-C-T p.Pro1422Leu missense ADAMTSL3 5 83192 6.01019E-5 41596 0 0.00100705
15-84685244-G-A p.Pro1422Pro synonymous ADAMTSL3 3 83186 3.60638E-5 41593 0 9.30768E-5
15-84690159-C-T c.4274-3C>T splice_region ADAMTSL3 2 83016 2.40917E-5 41508 0 NA
15-84690164-C-T p.Pro1426Ser missense+splice_region ADAMTSL3 1 83072 1.20378E-5 41536 0 3.18552E-5
15-84690169-T-C p.Phe1427Phe synonymous ADAMTSL3 1 83130 1.20294E-5 41565 0 NA
15-84690180-G-A p.Gly1431Asp missense ADAMTSL3 1 83206 1.20184E-5 41603 0 NA
15-84690213-A-T p.His1442Leu missense ADAMTSL3 2 83292 2.40119E-5 41646 0 NA
15-84690224-C-T p.Arg1446Cys missense ADAMTSL3 2 83266 2.40194E-5 41633 0 5.03525E-4
15-84690225-G-A p.Arg1446His missense ADAMTSL3 2 83274 2.40171E-5 41637 0 9.56084E-5
15-84690249-T-A p.Met1454Lys missense ADAMTSL3 2 83284 2.40142E-5 41642 0 1.19306E-5
15-84690259-G-T p.Gly1457Gly synonymous ADAMTSL3 1 83286 1.20068E-5 41643 0 5.03525E-4
15-84690267-T-C p.Val1460Ala missense ADAMTSL3 1 83262 1.20103E-5 41631 0 NA
15-84690277-C-G p.Ala1463Ala synonymous ADAMTSL3 1 83248 1.20123E-5 41624 0 NA
15-84690292-CCAG-C p.Gln1469del conservative_inframe_deletion ADAMTSL3 1 83240 1.20135E-5 41620 0 3.18573E-5
15-84690300-C-A p.Pro1471Gln missense ADAMTSL3 5 83256 6.00557E-5 41628 0 8.23737E-5
15-84690305-G-T p.Ala1473Ser missense ADAMTSL3 1 83252 1.20117E-5 41626 0 6.37146E-5
15-84690317-C-A p.Pro1477Thr missense ADAMTSL3 1 83226 1.20155E-5 41613 0 NA
15-84690329-C-A p.Arg1481Arg synonymous ADAMTSL3 1 83224 1.20158E-5 41612 0 NA
15-84690330-G-A p.Arg1481Gln missense ADAMTSL3 15 83204 1.8028E-4 41602 0 5.03525E-4
15-84690350-G-T c.4457+5G>T splice_region ADAMTSL3 2 83130 2.40587E-5 41565 0 4.00205E-6
15-84693985-C-T c.4458-5C>T splice_region ADAMTSL3 5 82900 6.03136E-5 41450 0 8.9836E-6
15-84694025-C-T p.Ser1498Phe missense ADAMTSL3 1 83240 1.20135E-5 41620 0 NA
15-84694029-C-T p.Cys1499Cys synonymous ADAMTSL3 1 83254 1.20114E-5 41627 0 1.27405E-4
15-84694030-G-A p.Gly1500Ser missense ADAMTSL3 31 83262 3.72319E-4 41631 1 0.001875
15-84694039-T-C p.Tyr1503His missense ADAMTSL3 2 83326 2.40021E-5 41663 0 3.18431E-5
15-84694048-C-T p.Arg1506Trp missense ADAMTSL3 1 83334 1.19999E-5 41667 0 3.18471E-5
15-84694049-G-A p.Arg1506Gln missense ADAMTSL3 4 83342 4.7995E-5 41671 0 5.82392E-5
15-84694058-C-T p.Thr1509Met missense ADAMTSL3 17 83364 2.03925E-4 41682 0 0.00125
15-84694059-G-A p.Thr1509Thr synonymous ADAMTSL3 1 83362 1.19959E-5 41681 0 3.18532E-5
15-84694066-C-T p.Arg1512Trp missense ADAMTSL3 4 83362 4.79835E-5 41681 0 7.95881E-6
15-84694067-G-A p.Arg1512Gln missense ADAMTSL3 28 83374 3.35836E-4 41687 0 6.37227E-4
15-84694067-G-C p.Arg1512Pro missense ADAMTSL3 1 83376 1.19939E-5 41688 0 1.65276E-5
15-84694079-A-T p.Asn1516Ile missense ADAMTSL3 474 83370 0.0056855 41685 0 0.00630654
15-84694089-G-A p.Val1519Val synonymous ADAMTSL3 5 83370 5.99736E-5 41685 0 7.9557E-6
15-84694101-T-G p.Ser1523Ser synonymous ADAMTSL3 1 83372 1.19944E-5 41686 0 NA
15-84694109-C-T p.Ala1526Val missense ADAMTSL3 1 83382 1.1993E-5 41691 0 NA
15-84694110-A-G p.Ala1526Ala synonymous ADAMTSL3 1 83380 1.19933E-5 41690 0 3.97782E-6
15-84694112-G-A p.Cys1527Tyr missense ADAMTSL3 1 83374 1.19941E-5 41687 0 8.26132E-6
15-84694117-C-T p.Pro1529Ser missense ADAMTSL3 2 83380 2.39866E-5 41690 0 6.61562E-5
15-84694118-C-T p.Pro1529Leu missense ADAMTSL3 1 83382 1.1993E-5 41691 0 NA
15-84694126-C-T p.Arg1532Trp missense ADAMTSL3 1 83368 1.1995E-5 41684 0 6.25E-4
15-84694127-G-A p.Arg1532Gln missense ADAMTSL3 2 83362 2.39917E-5 41681 0 5.8071E-5
15-84694132-C-T p.Leu1534Leu synonymous ADAMTSL3 2 83360 2.39923E-5 41680 0 5.96825E-5
15-84694134-G-A p.Leu1534Leu synonymous ADAMTSL3 1 83356 1.19967E-5 41678 0 3.18674E-5
15-84694155-T-C p.Gly1541Gly synonymous ADAMTSL3 24 83296 2.88129E-4 41648 0 0.0040282
15-84694165-G-C p.Val1545Leu missense ADAMTSL3 1 83242 1.20132E-5 41621 0 NA
15-84694168-C-G p.Gln1546Glu missense ADAMTSL3 1 83216 1.20169E-5 41608 0 8.79337E-6
15-84694182-G-A p.Gly1550Gly synonymous ADAMTSL3 1 83068 1.20383E-5 41534 0 3.99259E-6
15-84694186-C-T p.Arg1552Trp missense+splice_region ADAMTSL3 2 83010 2.40935E-5 41505 0 0.00100705
15-84694187-G-A p.Arg1552Gln missense+splice_region ADAMTSL3 1 83000 1.20482E-5 41500 0 1.60177E-5
15-84694187-G-C p.Arg1552Pro missense+splice_region ADAMTSL3 2 83000 2.40964E-5 41500 0 4.80531E-5
15-84700086-G-C c.4657-1G>C splice_acceptor ADAMTSL3 1 83058 1.20398E-5 41529 0 NA
15-84700096-C-T p.Arg1556Cys missense ADAMTSL3 2 83082 2.40726E-5 41541 0 1.98961E-5
15-84700097-G-A p.Arg1556His missense ADAMTSL3 7 83100 8.42359E-5 41550 0 8.24457E-5
15-84700103-T-C p.Met1558Thr missense ADAMTSL3 544 83114 0.00654523 41557 18 0.0148493
15-84700108-C-T p.Arg1560Cys missense ADAMTSL3 828 83076 0.00996678 41538 1 0.0108315
15-84700109-G-A p.Arg1560His missense ADAMTSL3 50 83098 6.01699E-4 41549 1 0.00125
15-84700111-G-C p.Ala1561Pro missense ADAMTSL3 1 83112 1.2032E-5 41556 0 3.97864E-6
15-84700130-G-A p.Arg1567His missense ADAMTSL3 1 83110 1.20322E-5 41555 0 4.9447E-5
15-84700138-G-T p.Ala1570Ser missense ADAMTSL3 4 83108 4.81301E-5 41554 0 0.00125
15-84700139-C-T p.Ala1570Val missense ADAMTSL3 1 83098 1.2034E-5 41549 0 NA
15-84700146-A-T p.Gln1572His missense ADAMTSL3 1 83082 1.20363E-5 41541 0 NA
15-84700148-A-C p.His1573Pro missense ADAMTSL3 1 83088 1.20354E-5 41544 0 1.59144E-5
15-84700167-C-G p.Asn1579Lys missense ADAMTSL3 102 82974 0.0012293 41487 0 0.020625
15-84700167-C-T p.Asn1579Asn synonymous ADAMTSL3 1 82974 1.2052E-5 41487 0 NA
15-84700175-A-G p.Asp1582Gly missense ADAMTSL3 1 82944 1.20563E-5 41472 0 NA
15-84700191-G-A c.4754+7G>A splice_region ADAMTSL3 2 82688 2.41873E-5 41344 0 3.18613E-5
15-84705527-C-A p.Pro1586His missense+splice_region ADAMTSL3 1 82644 1.21001E-5 41322 0 NA
15-84705542-A-G p.Asn1591Ser missense ADAMTSL3 2 82866 2.41354E-5 41433 0 3.18715E-5
15-84705556-G-T p.Ala1596Ser missense ADAMTSL3 1 82974 1.2052E-5 41487 0 NA
15-84705566-T-C p.Val1599Ala missense ADAMTSL3 1 83026 1.20444E-5 41513 0 NA
15-84705570-T-C p.Cys1600Cys synonymous ADAMTSL3 2 83044 2.40836E-5 41522 0 7.97111E-6
15-84705578-C-T p.Thr1603Ile missense ADAMTSL3 2 83066 2.40772E-5 41533 0 1.69538E-5
15-84705580-G-C p.Gly1604Arg missense ADAMTSL3 1 83086 1.20357E-5 41543 0 NA
15-84705581-G-C p.Gly1604Ala missense ADAMTSL3 4 83080 4.81464E-5 41540 0 5.03525E-4
15-84705586-T-C p.Trp1606Arg missense ADAMTSL3 2 83122 2.4061E-5 41561 0 NA
15-84705599-C-T p.Thr1610Ile missense ADAMTSL3 3 83138 3.60846E-5 41569 0 0.00151057
15-84705636-C-T p.Val1622Val synonymous ADAMTSL3 2 83160 2.405E-5 41580 0 3.31917E-5
15-84705637-G-A p.Asp1623Asn missense ADAMTSL3 1 83166 1.20241E-5 41583 0 3.18756E-5
15-84705645-C-G p.Ile1625Met missense ADAMTSL3 110 83204 0.00132205 41602 1 0.00350609
15-84705650-C-T p.Thr1627Ile missense ADAMTSL3 1 83204 1.20187E-5 41602 0 2.4825E-5
15-84705652-A-G p.Arg1628Gly missense ADAMTSL3 1 83220 1.20163E-5 41610 0 NA
15-84705660-C-T p.Cys1630Cys synonymous ADAMTSL3 3 83222 3.60482E-5 41611 0 1.59286E-4
15-84705662-A-G p.Lys1631Arg missense ADAMTSL3 1 83224 1.20158E-5 41612 0 NA
15-84705665-CT-C p.Val1633fs frameshift ADAMTSL3 2 83224 2.40315E-5 41612 0 0.00100705
15-84705666-T-C p.Pro1632Pro synonymous ADAMTSL3 1 83220 1.20163E-5 41610 0 NA
15-84705673-A-C p.Lys1635Gln missense ADAMTSL3 23 83218 2.76383E-4 41609 0 1.31297E-4
15-84705693-A-G p.Lys1641Lys synonymous ADAMTSL3 5 83220 6.00817E-5 41610 0 3.18573E-5
15-84705698-A-T p.Lys1643Ile missense ADAMTSL3 2 83198 2.4039E-5 41599 0 1.5919E-5
15-84705713-G-A p.Arg1648Gln missense ADAMTSL3 2 83144 2.40547E-5 41572 0 3.18593E-5
15-84705718-T-C p.Cys1650Arg missense ADAMTSL3 1 83116 1.20314E-5 41558 0 3.98311E-6
15-84705719-G-A p.Cys1650Tyr missense ADAMTSL3 1 83104 1.20331E-5 41552 0 NA
15-84705725-G-A p.Gly1652Glu missense ADAMTSL3 1 83066 1.20386E-5 41533 0 3.98559E-6
15-84705729-C-T p.Pro1653Pro synonymous ADAMTSL3 1 83022 1.2045E-5 41511 0 3.18451E-5
15-84705737-A-G p.Asp1656Gly missense+splice_region ADAMTSL3 1 82928 1.20587E-5 41464 0 NA
15-84705743-C-G p.Thr1658Arg missense ADAMTSL3 52 82844 6.27686E-4 41422 0 0.00219829
15-84705743-C-T p.Thr1658Met missense ADAMTSL3 5 82844 6.03544E-5 41422 0 9.55779E-5
15-84705744-G-A c.4969+5G>A splice_region ADAMTSL3 469 82792 0.0056648 41396 4 0.00544968
15-84705762-T-A c.4986+6T>A splice_region ADAMTSL3 6 82446 7.27749E-5 41223 1 4.40765E-4
15-84706448-G-T c.4970-4G>T splice_region ADAMTSL3 1 82802 1.2077E-5 41401 0 NA
15-84706461-C-T p.Thr1660Ile missense ADAMTSL3 19332 82006 0.235739 41003 2503 0.3575
15-84706467-C-T p.Thr1662Ile missense ADAMTSL3 2 82908 2.41231E-5 41454 0 3.18492E-5
15-84706479-G-C p.Cys1666Ser missense ADAMTSL3 1 82980 1.20511E-5 41490 0 1.65434E-5
15-84706481-A-G p.Met1667Val missense ADAMTSL3 2 82982 2.41016E-5 41491 0 1.59886E-5
15-84706482-T-C p.Met1667Thr missense ADAMTSL3 1 82992 1.20494E-5 41496 0 NA
15-84706504-G-C p.Leu1674Phe missense ADAMTSL3 21 83054 2.52848E-4 41527 0 0.0013059
15-84706517-C-T p.Arg1679Cys missense ADAMTSL3 4 83078 4.81475E-5 41539 0 1.27372E-4
15-84706517-C-A p.Arg1679Ser missense ADAMTSL3 1 83078 1.20369E-5 41539 0 8.25069E-6
15-84706518-G-A p.Arg1679His missense ADAMTSL3 342 83066 0.00411721 41533 7 0.00735669
15-84706532-T-G p.Cys1684Gly missense ADAMTSL3 2 83092 2.40697E-5 41546 0 NA
15-84706544-T-C p.Cys1688Arg missense ADAMTSL3 45 83068 5.41725E-4 41534 0 3.07771E-4
15-84706544-TG-CA p.Cys1688His