Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-5140473-C-T c.-108C>T 5_prime_UTR_premature_start_codon_gain ADAMTS16 1 35502 2.81674E-5 17751 0 6.39754E-5
5-5140489-C-T c.-92C>T 5_prime_UTR_premature_start_codon_gain ADAMTS16 1 38380 2.60552E-5 19190 0 NA
5-5140501-G-T c.-80G>T 5_prime_UTR_premature_start_codon_gain ADAMTS16 39 40148 9.71406E-4 20074 0 0.00293948
5-5140520-C-T c.-61C>T 5_prime_UTR_premature_start_codon_gain ADAMTS16 1 42876 2.33231E-5 21438 0 NA
5-5140586-G-T p.Lys2Asn missense ADAMTS16 1 55358 1.80642E-5 27679 0 NA
5-5140593-G-C p.Ala5Pro missense ADAMTS16 2 56660 3.52983E-5 28330 0 NA
5-5140594-C-T p.Ala5Val missense ADAMTS16 1 56986 1.75482E-5 28493 0 6.38325E-5
5-5140605-C-A p.Arg9Arg synonymous ADAMTS16 2 59392 3.36746E-5 29696 0 NA
5-5140608-G-C p.Gly10Arg missense ADAMTS16 1 60396 1.65574E-5 30198 0 3.42583E-5
5-5140618-C-T p.Ala13Val missense ADAMTS16 1 61878 1.61608E-5 30939 0 2.5568E-5
5-5140619-G-A p.Ala13Ala synonymous ADAMTS16 1 62276 1.60576E-5 31138 0 NA
5-5140621-T-C p.Leu14Pro missense ADAMTS16 2 63092 3.16997E-5 31546 0 NA
5-5140624-G-T p.Trp15Leu missense ADAMTS16 1 63952 1.56367E-5 31976 0 NA
5-5140628-G-A p.Met16Ile missense ADAMTS16 1 64546 1.54928E-5 32273 0 8.66897E-6
5-5140629-C-A p.Leu17Met missense ADAMTS16 4 64584 6.19348E-5 32292 0 3.18756E-5
5-5140632-T-C p.Leu18Leu synonymous ADAMTS16 30086 60054 0.500982 30027 7595 0.596923
5-5140636-C-T p.Ala19Val missense ADAMTS16 1 65330 1.53069E-5 32665 0 NA
5-5140640-G-A p.Gln20Gln synonymous ADAMTS16 277 66360 0.0041742 33180 6 0.00806503
5-5140641-G-A p.Val21Met missense ADAMTS16 1 66488 1.50403E-5 33244 0 NA
5-5140646-C-A p.Ala22Ala synonymous ADAMTS16 1 67222 1.48761E-5 33611 0 3.18918E-5
5-5140658-T-C c.72+6T>C splice_region ADAMTS16 1 69124 1.44668E-5 34562 0 NA
5-5140771-C-G c.73-6C>G splice_region ADAMTS16 1 77854 1.28446E-5 38927 0 NA
5-5140772-C-T c.73-5C>T splice_region ADAMTS16 1 77850 1.28452E-5 38925 0 NA
5-5140785-G-T p.Ala27Ala synonymous ADAMTS16 6 78258 7.66695E-5 39129 0 0.00154639
5-5140796-G-C p.Gly31Ala missense ADAMTS16 1 78618 1.27197E-5 39309 0 NA
5-5140796-G-A p.Gly31Glu missense ADAMTS16 2 78618 2.54395E-5 39309 0 1.59357E-4
5-5140798-C-T p.Pro32Ser missense ADAMTS16 97 78642 0.00123344 39321 0 0.00548667
5-5140802-C-T p.Ala33Val missense ADAMTS16 2 78664 2.54246E-5 39332 0 NA
5-5140806-G-C p.Ala34Ala synonymous ADAMTS16 17 78752 2.15868E-4 39376 0 5.16689E-4
5-5140810-G-T p.Ala36Ser missense ADAMTS16 1 78834 1.26849E-5 39417 0 1.00381E-4
5-5140818-G-A p.Gly38Gly synonymous ADAMTS16 1 79020 1.2655E-5 39510 0 NA
5-5140823-C-G p.Pro40Arg missense ADAMTS16 2 79024 2.53088E-5 39512 0 4.70146E-5
5-5140840-C-T p.Pro46Ser missense ADAMTS16 1 79382 1.25973E-5 39691 0 NA
5-5140841-C-T p.Pro46Leu missense ADAMTS16 1 79394 1.25954E-5 39697 0 4.39599E-5
5-5140841-C-G p.Pro46Arg missense ADAMTS16 1 79394 1.25954E-5 39697 0 NA
5-5140843-C-T p.Pro47Ser missense ADAMTS16 1 79360 1.26008E-5 39680 0 4.39097E-5
5-5140847-C-T p.Pro48Leu missense ADAMTS16 2 79278 2.52277E-5 39639 0 5.67273E-6
5-5140854-G-A p.Glu50Glu synonymous ADAMTS16 8 79162 1.01059E-4 39581 0 1.15308E-5
5-5140855-C-A p.Arg51Arg synonymous ADAMTS16 74 79150 9.34934E-4 39575 0 0.00219843
5-5140856-G-C p.Arg51Pro missense ADAMTS16 25 79156 3.15832E-4 39578 0 9.23979E-4
5-5140860-G-A p.Pro52Pro synonymous ADAMTS16 1 79156 1.26333E-5 39578 0 NA
5-5140879-G-A p.Glu59Lys missense+splice_region ADAMTS16 1 78878 1.26778E-5 39439 0 NA
5-5140887-C-A c.175+8C>A splice_region ADAMTS16 1 78772 1.26949E-5 39386 0 9.89609E-5
5-5146239-T-C c.176-4T>C splice_region ADAMTS16 6 82918 7.23606E-5 41459 0 4.03457E-6
5-5146256-C-A p.Val63Val synonymous ADAMTS16 4 83026 4.81777E-5 41513 0 5.03525E-4
5-5146258-C-G p.Ser64Cys missense ADAMTS16 2 83038 2.40854E-5 41519 0 NA
5-5146274-C-A p.Asp69Glu missense ADAMTS16 2 83072 2.40755E-5 41536 0 NA
5-5146289-C-T p.Tyr74Tyr synonymous ADAMTS16 2 83116 2.40628E-5 41558 0 5.03525E-4
5-5146294-C-A p.Ser76Tyr missense ADAMTS16 1 83140 1.20279E-5 41570 0 NA
5-5146314-C-G p.Gln83Glu missense ADAMTS16 1 83200 1.20192E-5 41600 0 NA
5-5146319-G-A p.Arg84Arg synonymous ADAMTS16 26 83214 3.12447E-4 41607 0 3.12635E-4
5-5146321-G-A p.Arg85Gln missense ADAMTS16 2 83232 2.40292E-5 41616 0 3.18471E-5
5-5146335-C-G p.Pro90Ala missense ADAMTS16 64847 81616 0.794538 40808 26032 0.862538
5-5146337-C-T p.Pro90Pro synonymous ADAMTS16 2 83236 2.40281E-5 41618 0 NA
5-5146338-G-A p.Val91Met missense ADAMTS16 1 83240 1.20135E-5 41620 0 1.6562E-5
5-5146344-G-A p.Glu93Lys missense ADAMTS16 1 83266 1.20097E-5 41633 0 3.18492E-5
5-5146347-G-T p.Val94Phe missense ADAMTS16 1 83272 1.20088E-5 41636 0 NA
5-5146349-T-G p.Val94Val synonymous ADAMTS16 1 83288 1.20065E-5 41644 0 5.03525E-4
5-5146351-A-G p.Glu95Gly missense ADAMTS16 12 83286 1.44082E-4 41643 0 5.03525E-4
5-5146365-C-T p.Arg100Trp missense ADAMTS16 150 83294 0.00180085 41647 0 0.00151057
5-5146366-G-A p.Arg100Gln missense ADAMTS16 1 83288 1.20065E-5 41644 0 6.25E-4
5-5146376-C-T p.Gly103Gly synonymous ADAMTS16 8 83286 9.60546E-5 41643 0 1.91095E-4
5-5146377-T-C p.Ser104Pro missense ADAMTS16 35005 83028 0.421605 41514 7793 0.463633
5-5146385-C-T p.His106His synonymous ADAMTS16 2 83292 2.40119E-5 41646 0 3.18451E-5
5-5146386-G-C p.Asp107His missense ADAMTS16 1 83294 1.20057E-5 41647 0 3.18573E-5
5-5146388-C-T p.Asp107Asp synonymous ADAMTS16 1 83298 1.20051E-5 41649 0 NA
5-5146395-A-G p.Met110Val missense ADAMTS16 47492 83060 0.571779 41530 14032 0.601208
5-5146398-G-A p.Asp111Asn missense ADAMTS16 1 83302 1.20045E-5 41651 0 8.28253E-6
5-5146406-G-A p.Arg113Arg synonymous ADAMTS16 2 83296 2.40108E-5 41648 0 NA
5-5146414-G-C p.Ser116Thr missense ADAMTS16 1 83294 1.20057E-5 41647 0 4.00718E-6
5-5146417-G-C p.Ser117Thr missense ADAMTS16 2 83302 2.4009E-5 41651 0 9.55292E-5
5-5146420-T-C p.Leu118Pro missense ADAMTS16 1 83300 1.20048E-5 41650 0 NA
5-5146433-C-A p.Gly122Gly synonymous ADAMTS16 2 83302 2.4009E-5 41651 0 7.4565E-5
5-5146436-T-C p.Phe123Phe synonymous ADAMTS16 1 83294 1.20057E-5 41647 0 NA
5-5146438-T-A p.Ile124Asn missense ADAMTS16 1 83294 1.20057E-5 41647 0 4.00692E-6
5-5146440-G-A p.Val125Met missense ADAMTS16 3 83292 3.60179E-5 41646 0 8.01398E-6
5-5146448-G-A p.Thr127Thr synonymous ADAMTS16 1 83288 1.20065E-5 41644 0 4.00712E-6
5-5146449-T-C p.Leu128Leu synonymous ADAMTS16 1 83292 1.2006E-5 41646 0 8.01391E-6
5-5146459-C-T p.Thr131Ile missense ADAMTS16 1 83292 1.2006E-5 41646 0 8.28844E-6
5-5146459-C-A p.Thr131Lys missense ADAMTS16 1 83292 1.2006E-5 41646 0 NA
5-5146481-T-G p.Thr138Thr synonymous ADAMTS16 1 83276 1.20083E-5 41638 0 8.29614E-6
5-5146483-T-C p.Leu139Ser missense ADAMTS16 2 83272 2.40177E-5 41636 0 NA
5-5146486-C-T p.Pro140Leu missense ADAMTS16 3 83266 3.60291E-5 41633 0 3.3206E-5
5-5146487-G-A p.Pro140Pro synonymous ADAMTS16 1 83256 1.20111E-5 41628 0 3.18532E-5
5-5146499-C-T p.Phe144Phe synonymous ADAMTS16 1 83230 1.20149E-5 41615 0 8.31919E-6
5-5146503-T-G p.Phe146Val missense ADAMTS16 1 83212 1.20175E-5 41606 0 NA
5-5146514-C-T p.Gly149Gly synonymous ADAMTS16 1 83106 1.20328E-5 41553 0 1.67137E-5
5-5146534-A-G p.Asn156Ser missense ADAMTS16 2 82760 2.41663E-5 41380 0 4.04616E-6
5-5146569-G-A c.501+1G>A splice_donor ADAMTS16 1 81778 1.22282E-5 40889 0 8.71764E-6
5-5146576-C-T c.501+8C>T splice_region ADAMTS16 4 81538 4.90569E-5 40769 0 2.154E-5
5-5182155-A-T c.502-2A>T splice_acceptor ADAMTS16 3 80178 3.74167E-5 40089 0 NA
5-5182175-G-A p.Glu174Lys missense ADAMTS16 3 81360 3.68732E-5 40680 0 1.27421E-4
5-5182199-C-T p.Pro182Ser missense ADAMTS16 2 82274 2.4309E-5 41137 0 NA
5-5182205-C-T p.Pro184Ser missense ADAMTS16 3 82494 3.63663E-5 41247 0 9.55718E-5
5-5182212-A-T p.His186Leu missense ADAMTS16 2 82606 2.42113E-5 41303 0 NA
5-5182219-A-G p.Ser188Ser synonymous ADAMTS16 4 82674 4.83828E-5 41337 0 3.35818E-5
5-5182228-C-T p.Leu191Leu synonymous ADAMTS16 2 82724 2.41768E-5 41362 0 4.01626E-6
5-5182229-G-A p.Gly192Ser missense ADAMTS16 3 82706 3.62731E-5 41353 0 6.25E-4
5-5182235-G-T p.Ala194Ser missense ADAMTS16 2 82690 2.41867E-5 41345 0 8.03374E-6
5-5182241-C-G p.Gln196Glu missense ADAMTS16 1 82700 1.20919E-5 41350 0 3.18532E-5
5-5182242-A-G p.Gln196Arg missense ADAMTS16 88 82690 0.00106422 41345 0 0.00503525
5-5182244-G-A p.Gly197Ser missense ADAMTS16 1 82686 1.20939E-5 41343 0 NA
5-5182245-G-A p.Gly197Asp missense ADAMTS16 1 82656 1.20983E-5 41328 0 5.02008E-5
5-5182248-G-T p.Ser198Ile missense ADAMTS16 1 82676 1.20954E-5 41338 0 NA
5-5182251-C-T p.Ser199Leu missense ADAMTS16 1 82804 1.20767E-5 41402 0 8.35338E-6
5-5182252-G-A p.Ser199Ser synonymous ADAMTS16 9 82800 1.08696E-4 41400 0 5.03525E-4
5-5182261-C-T p.His202His synonymous ADAMTS16 1 82916 1.20604E-5 41458 0 3.18573E-5
5-5182262-G-A p.Val203Ile missense ADAMTS16 1 82922 1.20595E-5 41461 0 6.3743E-5
5-5182270-C-T p.Tyr205Tyr synonymous ADAMTS16 1 82952 1.20552E-5 41476 0 8.01912E-6
5-5182286-C-T p.Pro211Ser missense ADAMTS16 853 82980 0.0102796 41490 5 0.013995
5-5182290-A-G p.His212Arg missense ADAMTS16 2 83034 2.40865E-5 41517 0 NA
5-5182295-C-T p.Pro214Ser missense ADAMTS16 1 83050 1.20409E-5 41525 0 3.18634E-5
5-5182305-G-C p.Ser217Thr missense ADAMTS16 1 83066 1.20386E-5 41533 0 3.18552E-5
5-5182310-G-A p.Val219Ile missense ADAMTS16 1 83084 1.2036E-5 41542 0 8.29394E-6
5-5182330-A-T p.Thr225Thr synonymous ADAMTS16 2 83116 2.40628E-5 41558 0 NA
5-5182330-A-G p.Thr225Thr synonymous ADAMTS16 1 83116 1.20314E-5 41558 0 4.00882E-6
5-5182344-A-G p.His230Arg missense ADAMTS16 3 83130 3.60881E-5 41565 0 NA
5-5182349-C-G p.Pro232Ala missense ADAMTS16 1 83116 1.20314E-5 41558 0 NA
5-5182349-C-A p.Pro232Thr missense ADAMTS16 1 83116 1.20314E-5 41558 0 NA
5-5182351-C-G p.Pro232Pro synonymous ADAMTS16 1 83134 1.20288E-5 41567 0 8.28706E-6
5-5182352-C-T p.Leu233Leu synonymous ADAMTS16 3 83130 3.60881E-5 41565 0 NA
5-5182358-A-C p.Ser235Arg missense ADAMTS16 1 83140 1.20279E-5 41570 0 1.27372E-4
5-5182363-C-T p.Ser236Ser synonymous ADAMTS16 25 83130 3.00734E-4 41565 0 0.00625
5-5182364-G-A p.Asp237Asn missense ADAMTS16 10 83142 1.20276E-4 41571 1 0.00151057
5-5182370-C-T p.Arg239Cys missense ADAMTS16 7 83152 8.41832E-5 41576 0 3.31538E-5
5-5182371-G-A p.Arg239His missense ADAMTS16 3 83150 3.60794E-5 41575 0 3.18492E-5
5-5182374-T-C p.Leu240Pro missense ADAMTS16 21 83158 2.52531E-4 41579 0 5.41298E-4
5-5182377-G-A p.Gly241Glu missense ADAMTS16 1 83168 1.20239E-5 41584 0 1.60527E-5
5-5182382-C-A p.Pro243Thr missense ADAMTS16 1 83180 1.20221E-5 41590 0 NA
5-5182391-C-T p.Gln246* stop_gained ADAMTS16 2 83206 2.40367E-5 41603 0 8.29463E-6
5-5182409-C-T p.Arg252Cys missense ADAMTS16 8 83212 9.614E-5 41606 0 8.45492E-5
5-5182410-G-A p.Arg252His missense ADAMTS16 1 83210 1.20178E-5 41605 0 6.25E-4
5-5182414-G-T p.Lys253Asn missense ADAMTS16 1 83216 1.20169E-5 41608 0 8.34585E-6
5-5182417-A-G p.Lys254Lys splice_region+synonymous ADAMTS16 1 83216 1.20169E-5 41608 0 NA
5-5182422-T-C c.763+4T>C splice_region ADAMTS16 2 83206 2.40367E-5 41603 0 NA
5-5182424-T-C c.763+6T>C splice_region ADAMTS16 1 83208 1.20181E-5 41604 0 NA
5-5186157-C-T c.764-8C>T splice_region ADAMTS16 4 83018 4.81823E-5 41509 0 2.83059E-5
5-5186158-T-C c.764-7T>C splice_region ADAMTS16 1 83028 1.20441E-5 41514 0 6.37267E-5
5-5186167-A-G p.Met256Val missense+splice_region ADAMTS16 4 83122 4.8122E-5 41561 0 2.48884E-5
5-5186185-G-A p.Glu262Lys missense ADAMTS16 7 83242 8.40922E-5 41621 0 1.65678E-5
5-5186189-A-C p.Asp263Ala missense ADAMTS16 1 83260 1.20106E-5 41630 0 8.28281E-6
5-5186190-C-A p.Asp263Glu missense ADAMTS16 1 83254 1.20114E-5 41627 0 NA
5-5186193-C-T p.Leu264Leu synonymous ADAMTS16 1 83288 1.20065E-5 41644 0 NA
5-5186195-T-G p.Phe265Cys missense ADAMTS16 1 83286 1.20068E-5 41643 0 NA
5-5186198-T-A p.Ile266Asn missense ADAMTS16 3 83294 3.6017E-5 41647 0 5.03525E-4
5-5186206-G-C p.Asp269His missense ADAMTS16 1 83304 1.20042E-5 41652 0 NA
5-5186207-A-G p.Asp269Gly missense ADAMTS16 1 83304 1.20042E-5 41652 0 8.28144E-6
5-5186213-A-G p.Tyr271Cys missense ADAMTS16 2 83312 2.40061E-5 41656 0 7.6167E-5
5-5186219-C-G p.Ser273Cys missense ADAMTS16 2 83314 2.40056E-5 41657 0 1.20251E-5
5-5186227-C-T p.Arg276Trp missense ADAMTS16 1 83310 1.20034E-5 41655 0 8.01655E-6
5-5186236-C-T p.Arg279Cys missense ADAMTS16 1 83332 1.20002E-5 41666 0 3.18492E-5
5-5186236-C-A p.Arg279Ser missense ADAMTS16 2 83332 2.40004E-5 41666 0 NA
5-5186237-G-A p.Arg279His missense ADAMTS16 1 83342 1.19988E-5 41671 0 5.03525E-4
5-5186240-C-A p.Ser280Tyr missense ADAMTS16 1 83350 1.19976E-5 41675 0 3.18552E-5
5-5186243-T-C p.Leu281Pro missense ADAMTS16 8 83350 9.59808E-5 41675 0 1.91107E-4
5-5186252-C-A p.Ser284Tyr missense ADAMTS16 238 83350 0.00285543 41675 5 0.0120846
5-5186255-A-G p.His285Arg missense ADAMTS16 6 83366 7.19718E-5 41683 0 3.31225E-5
5-5186275-G-A p.Val292Met missense ADAMTS16 22 83358 2.63922E-4 41679 0 5.03525E-4
5-5186295-C-T p.Val298Val synonymous ADAMTS16 4 83366 4.79812E-5 41683 0 1.20241E-5
5-5186296-G-A p.Asp299Asn missense ADAMTS16 2 83368 2.399E-5 41684 0 3.19203E-5
5-5186298-C-CA p.Met302fs frameshift ADAMTS16 1 83368 1.1995E-5 41684 0 NA
5-5186305-A-T p.Met302Leu missense ADAMTS16 1 83368 1.1995E-5 41684 0 NA
5-5186310-G-A p.Met303Ile missense ADAMTS16 1 83360 1.19962E-5 41680 0 8.28569E-6
5-5186324-A-G p.His308Arg missense ADAMTS16 4 83346 4.79927E-5 41673 0 1.27405E-4
5-5186331-T-C p.Asn310Asn synonymous ADAMTS16 1 83322 1.20016E-5 41661 0 1.20307E-5
5-5186338-A-G p.Thr313Ala missense ADAMTS16 1 83304 1.20042E-5 41652 0 NA
5-5186340-C-T p.Thr313Thr synonymous ADAMTS16 1 83308 1.20036E-5 41654 0 6.37308E-5
5-5186351-C-T p.Thr317Met missense ADAMTS16 1 83258 1.20109E-5 41629 0 3.18613E-5
5-5186352-G-A p.Thr317Thr synonymous ADAMTS16 6 83250 7.20721E-5 41625 0 1.59327E-4
5-5187830-T-A c.964-8T>A splice_region ADAMTS16 44 82352 5.34292E-4 41176 0 0.00114599
5-5187831-T-G c.964-7T>G splice_region ADAMTS16 2 82364 2.42825E-5 41182 0 6.25E-4
5-5187860-G-A p.Gly329Glu missense ADAMTS16 1 82766 1.20823E-5 41383 0 3.314E-5
5-5187900-G-A p.Leu342Leu synonymous ADAMTS16 1 82710 1.20904E-5 41355 0 NA
5-5187909-A-G p.Leu345Leu synonymous ADAMTS16 6 82652 7.25935E-5 41326 0 5.03525E-4
5-5187929-A-T c.1047+8A>T splice_region ADAMTS16 1 82400 1.21359E-5 41200 0 3.32701E-5
5-5190084-C-T p.Pro350Ser missense+splice_region ADAMTS16 1 83180 1.20221E-5 41590 0 4.07279E-6
5-5190103-A-G p.His356Arg missense ADAMTS16 2 83208 2.40361E-5 41604 0 NA
5-5190107-C-T p.His357His synonymous ADAMTS16 5 83180 6.01106E-5 41590 0 6.36862E-5
5-5190108-G-A p.Ala358Thr missense ADAMTS16 1 83172 1.20233E-5 41586 0 3.1841E-5
5-5190136-AG-A p.Gln367fs frameshift ADAMTS16 1 83226 1.20155E-5 41613 0 NA
5-5190146-T-C p.Ser370Ser synonymous ADAMTS16 83 83232 9.97213E-4 41616 1 0.00553877
5-5190148-G-A p.Gly371Glu missense ADAMTS16 6 83228 7.20911E-5 41614 0 4.14285E-5
5-5190156-G-T p.Gly374Trp missense ADAMTS16 1 83214 1.20172E-5 41607 0 NA
5-5190170-T-C p.Thr378Thr synonymous ADAMTS16 2 83186 2.40425E-5 41593 0 2.01199E-5
5-5190172-G-A p.Arg379His missense ADAMTS16 1 83196 1.20198E-5 41598 0 3.31505E-5
5-5190181-A-T p.His382Leu missense ADAMTS16 3 83190 3.6062E-5 41595 0 8.06796E-6
5-5190182-C-T p.His382His synonymous ADAMTS16 2215 83122 0.0266476 41561 31 0.07125
5-5190183-G-A p.Ala383Thr missense ADAMTS16 2 83178 2.40448E-5 41589 0 6.25E-4
5-5190198-G-A p.Gly388Ser missense ADAMTS16 1 83202 1.20189E-5 41601 0 8.32931E-6
5-5190209-A-T p.Ile391Ile synonymous ADAMTS16 1 83216 1.20169E-5 41608 0 NA
5-5190215-C-T p.Ser393Ser synonymous ADAMTS16 17 83198 2.04332E-4 41599 0 4.13934E-4
5-5190222-A-G p.Asn396Asp missense ADAMTS16 2 83164 2.40489E-5 41582 0 8.49286E-6
5-5190225-G-A p.Glu397Lys missense ADAMTS16 3 83178 3.60672E-5 41589 0 8.52399E-6
5-5190251-C-A c.1207+8C>A splice_region ADAMTS16 2 83032 2.40871E-5 41516 0 1.33714E-5
5-5191805-A-G p.Ala405Ala synonymous ADAMTS16 1 83032 1.20435E-5 41516 0 NA
5-5191809-A-G p.Ile407Val missense ADAMTS16 1 83062 1.20392E-5 41531 0 4.01326E-6
5-5191809-A-T p.Ile407Leu missense ADAMTS16 1 83062 1.20392E-5 41531 0 4.97257E-5
5-5191822-G-A p.Cys411Tyr missense ADAMTS16 2 83124 2.40604E-5 41562 0 4.01033E-6
5-5191833-C-T p.Arg415Cys missense ADAMTS16 2 83154 2.40518E-5 41577 0 8.28322E-6
5-5191834-G-A p.Arg415His missense ADAMTS16 12 83138 1.44338E-4 41569 0 6.25E-4
5-5191835-C-A p.Arg415Arg synonymous ADAMTS16 1 83162 1.20247E-5 41581 0 NA
5-5191843-C-T p.Thr418Met missense ADAMTS16 1 83172 1.20233E-5 41586 0 1.20292E-5
5-5191844-G-A p.Thr418Thr synonymous ADAMTS16 6 83178 7.21345E-5 41589 0 9.55414E-5
5-5191894-C-G p.Ser435Cys missense ADAMTS16 1 83028 1.20441E-5 41514 0 NA
5-5200239-T-TCTCA c.1314-6_1314-5insCTCA splice_region ADAMTS16 2 82388 2.42754E-5 41194 0 4.408E-6
5-5200245-C-T p.Asn438Asn splice_region+synonymous ADAMTS16 1 82436 1.21306E-5 41218 0 NA
5-5200260-T-C p.His443His synonymous ADAMTS16 1 82768 1.2082E-5 41384 0 1.09929E-5
5-5200277-T-C p.Met449Thr missense ADAMTS16 1 83018 1.20456E-5 41509 0 4.02505E-6
5-5200281-C-T p.Cys450Cys synonymous ADAMTS16 56295 79120 0.711514 39560 20083 0.75765
5-5200286-A-T p.Lys452Met missense ADAMTS16 2 83112 2.40639E-5 41556 0 3.1839E-5
5-5200288-T-C p.Ser453Pro missense ADAMTS16 1 83106 1.20328E-5 41553 0 NA
5-5200290-C-T p.Ser453Ser synonymous ADAMTS16 3 83120 3.60924E-5 41560 0 4.81912E-5
5-5200306-T-A p.Ser459Thr missense ADAMTS16 4 83176 4.80908E-5 41588 1 3.18532E-5
5-5200306-TCC-T p.Pro460fs frameshift ADAMTS16 1 83176 1.20227E-5 41588 0 NA
5-5200324-C-T p.Arg465Cys missense ADAMTS16 2 83264 2.402E-5 41632 0 4.81035E-5
5-5200336-T-G p.Phe469Val missense ADAMTS16 26 83276 3.12215E-4 41638 0 7.00815E-4
5-5200341-C-G p.Ser470Ser synonymous ADAMTS16 1 83284 1.20071E-5 41642 0 NA
5-5200348-C-T p.Pro473Ser missense ADAMTS16 1 83288 1.20065E-5 41644 0 NA
5-5200357-C-T p.Arg476Cys missense ADAMTS16 1 83300 1.20048E-5 41650 0 8.28926E-6
5-5200358-G-A p.Arg476His missense ADAMTS16 1 83296 1.20054E-5 41648 0 5.03525E-4
5-5200372-A-C p.Lys481Gln missense ADAMTS16 2 83288 2.40131E-5 41644 0 8.2982E-6
5-5200389-A-C c.1451+7A>C splice_region ADAMTS16 994 83240 0.0119414 41620 27 0.017987
5-5200390-C-G c.1451+8C>G splice_region ADAMTS16 1 83264 1.201E-5 41632 0 6.25782E-4
5-5209201-T-C c.1452-5T>C splice_region ADAMTS16 1 83184 1.20215E-5 41592 0 NA
5-5209209-C-T p.Thr485Thr synonymous ADAMTS16 8 83180 9.6177E-5 41590 0 9.29211E-5
5-5209209-C-G p.Thr485Thr synonymous ADAMTS16 2 83180 2.40442E-5 41590 0 1.20899E-5
5-5209210-G-A p.Ala486Thr missense ADAMTS16 3458 83114 0.0416055 41557 97 0.0562447
5-5209219-A-C p.Ile489Leu missense ADAMTS16 48 83216 5.76812E-4 41608 0 5.17977E-4
5-5209219-A-G p.Ile489Val missense ADAMTS16 2 83218 2.40333E-5 41609 0 4.01532E-6
5-5209220-T-C p.Ile489Thr missense ADAMTS16 4 83220 4.80654E-5 41610 0 3.18451E-5
5-5209233-T-C p.Asp493Asp synonymous ADAMTS16 1 83220 1.20163E-5 41610 0 NA
5-5209236-G-A p.Gln494Gln synonymous ADAMTS16 1 83228 1.20152E-5 41614 0 4.01117E-6
5-5209267-G-A p.Glu505Lys missense ADAMTS16 2 83220 2.40327E-5 41610 0 4.14339E-5
5-5209278-A-T p.Pro508Pro synonymous ADAMTS16 1 83210 1.20178E-5 41605 0 3.18492E-5
5-5209285-T-C p.Leu511Leu synonymous ADAMTS16 4 83222 4.80642E-5 41611 0 1.27364E-4
5-5209291-G-A p.Asp513Asn missense ADAMTS16 4 83198 4.80781E-5 41599 0 1.59175E-4
5-5209293-T-C p.Asp513Asp synonymous ADAMTS16 2 83196 2.40396E-5 41598 0 8.29408E-6
5-5209295-C-T p.Ala514Val missense ADAMTS16 4 83182 4.80873E-5 41591 0 4.41066E-5
5-5209308-C-T p.Cys518Cys synonymous ADAMTS16 5 83122 6.01525E-5 41561 0 3.3206E-5
5-5209314-G-A p.Trp520* stop_gained ADAMTS16 1 83082 1.20363E-5 41541 0 NA
5-5209317-G-A p.Gln521Gln synonymous ADAMTS16 1 83064 1.20389E-5 41532 0 8.30772E-6
5-5209320-C-T p.Phe522Phe synonymous ADAMTS16 4 83038 4.81707E-5 41519 0 3.18451E-5
5-5209321-G-A p.Gly523Arg missense ADAMTS16 17 83034 2.04735E-4 41517 1 1.59205E-4
5-5209336-C-T p.Leu528Phe missense ADAMTS16 1 82922 1.20595E-5 41461 0 4.01694E-6
5-5209360-G-T c.1605+1G>T splice_donor ADAMTS16 1 82444 1.21294E-5 41222 0 NA
5-5222930-G-A p.Arg545His missense ADAMTS16 5 83146 6.01352E-5 41573 0 4.22367E-4
5-5222949-G-A p.Glu551Glu synonymous ADAMTS16 1 83174 1.2023E-5 41587 0 2.00385E-5
5-5222952-T-C p.Thr552Thr synonymous ADAMTS16 1 83172 1.20233E-5 41586 0 3.1837E-5
5-5222962-C-T p.Pro556Ser missense ADAMTS16 1 83174 1.2023E-5 41587 0 1.60316E-5
5-5222988-G-A p.Gly564Gly synonymous ADAMTS16 1 83138 1.20282E-5 41569 0 4.14113E-5
5-5222988-G-T p.Gly564Gly synonymous ADAMTS16 2 83138 2.40564E-5 41569 0 6.25E-4
5-5222996-T-C p.Met567Thr missense+splice_region ADAMTS16 2 83116 2.40628E-5 41558 0 6.36659E-5
5-5223002-G-T p.Arg569Ile missense ADAMTS16 1 83106 1.20328E-5 41553 0 NA
5-5232475-T-C c.1702-6T>C splice_region ADAMTS16 3 83384 3.59781E-5 41692 0 3.2059E-5
5-5232483-G-A p.Trp568* stop_gained ADAMTS16 1 83398 1.19907E-5 41699 0 NA
5-5232488-G-A p.Arg570Gln missense ADAMTS16 6 83394 7.19476E-5 41697 0 4.00718E-5
5-5232496-C-G p.Gln573Glu missense ADAMTS16 2 83406 2.39791E-5 41703 0 NA
5-5232500-G-A p.Cys574Tyr missense ADAMTS16 3 83410 3.59669E-5 41705 0 NA
5-5232517-G-C p.Glu580Gln missense ADAMTS16 1 83410 1.1989E-5 41705 0 NA
5-5232522-C-A p.Gly581Gly synonymous ADAMTS16 2 83410 2.39779E-5 41705 0 2.00346E-5
5-5232526-A-C p.Lys583Gln missense ADAMTS16 1 83410 1.1989E-5 41705 0 NA
5-5232527-A-G p.Lys583Arg missense ADAMTS16 2 83410 2.39779E-5 41705 0 6.38121E-5
5-5232535-C-G p.His586Asp missense ADAMTS16 1 83404 1.19898E-5 41702 0 4.00692E-6
5-5232536-A-T p.His586Leu missense ADAMTS16 2 83404 2.39797E-5 41702 0 NA
5-5232536-A-G p.His586Arg missense ADAMTS16 2 83404 2.39797E-5 41702 0 2.48406E-5
5-5232542-A-T p.His588Leu missense ADAMTS16 1 83406 1.19895E-5 41703 0 4.00708E-6
5-5232545-G-A p.Trp589* stop_gained ADAMTS16 1 83400 1.19904E-5 41700 0 8.2802E-6
5-5232548-C-T p.Ser590Leu missense ADAMTS16 2 83402 2.39802E-5 41701 0 4.00699E-6
5-5232549-G-A p.Ser590Ser synonymous ADAMTS16 1 83404 1.19898E-5 41702 0 8.2802E-6
5-5232570-A-G p.Pro597Pro synonymous ADAMTS16 1 83392 1.19916E-5 41696 0 NA
5-5232585-C-T p.Cys602Cys synonymous ADAMTS16 2 83386 2.39848E-5 41693 0 4.80923E-5
5-5232586-G-A p.Gly603Arg missense ADAMTS16 4 83384 4.79708E-5 41692 0 0.00151362
5-5232589-G-C p.Gly604Arg missense ADAMTS16 1 83376 1.19939E-5 41688 0 3.18817E-5
5-5232610-C-T p.Arg611Cys missense ADAMTS16 3 83338 3.5998E-5 41669 0 3.19407E-5
5-5232611-G-C p.Arg611Pro missense ADAMTS16 1 83324 1.20013E-5 41662 0 4.01104E-6
5-5232611-G-A p.Arg611His missense ADAMTS16 2 83324 2.40027E-5 41662 0 3.19305E-5
5-5232623-A-G p.Asn615Ser missense ADAMTS16 1 83280 1.20077E-5 41640 0 6.40985E-5
5-5232630-G-A c.1850+1G>A splice_donor ADAMTS16 1 83234 1.20143E-5 41617 0 NA
5-5235120-A-T c.1851-7A>T splice_region ADAMTS16 1 81860 1.2216E-5 40930 0 NA
5-5235132-C-T p.Ser619Leu missense ADAMTS16 2 82492 2.42448E-5 41246 0 5.101E-5
5-5235133-G-A p.Ser619Ser synonymous ADAMTS16 55 82504 6.66634E-4 41252 0 0.00408163
5-5235133-G-T p.Ser619Ser synonymous ADAMTS16 1 82504 1.21206E-5 41252 0 NA
5-5235135-A-G p.His620Arg missense ADAMTS16 2 82610 2.42101E-5 41305 0 3.38043E-5
5-5235135-A-T p.His620Leu missense ADAMTS16 2 82610 2.42101E-5 41305 0 NA
5-5235160-C-G p.Ser628Ser synonymous ADAMTS16 1 83070 1.2038E-5 41535 0 NA
5-5235164-C-T p.Arg630Cys missense ADAMTS16 2 83108 2.40651E-5 41554 0 5.06586E-4
5-5235165-G-A p.Arg630His missense ADAMTS16 3 83096 3.61028E-5 41548 0 4.99118E-5
5-5235171-T-C p.Leu632Pro missense ADAMTS16 15 83164 1.80367E-4 41582 0 8.44377E-5
5-5235180-G-A p.Cys635Tyr missense ADAMTS16 1 83184 1.20215E-5 41592 0 NA
5-5235187-T-C p.Ser637Ser synonymous ADAMTS16 2 83196 2.40396E-5 41598 0 8.03807E-6
5-5235201-G-A p.Arg642Gln missense ADAMTS16 39 83244 4.68502E-4 41622 0 0.003125
5-5235218-C-T p.Arg648Cys missense ADAMTS16 2 83234 2.40286E-5 41617 0 3.18573E-5
5-5235219-G-A p.Arg648His missense ADAMTS16 7 83238 8.40962E-5 41619 0 6.424E-5
5-5235232-T-C p.Cys652Cys synonymous ADAMTS16 1 83234 1.20143E-5 41617 0 2.41049E-5
5-5235234-C-T p.Ala653Val missense ADAMTS16 1 83214 1.20172E-5 41607 0 NA
5-5235235-C-T p.Ala653Ala synonymous ADAMTS16 3 83198 3.60586E-5 41599 0 9.55901E-5
5-5235236-G-A p.Glu654Lys missense ADAMTS16 1 83216 1.20169E-5 41608 0 1.65978E-5
5-5235240-A-G p.His655Arg missense ADAMTS16 30 83220 3.6049E-4 41610 0 6.72344E-4
5-5235247-C-G p.Ser657Arg missense ADAMTS16 1 83212 1.20175E-5 41606 0 4.15386E-5
5-5235249-G-C p.Arg658Thr missense ADAMTS16 1 83210 1.20178E-5 41605 0 NA
5-5235249-G-A p.Arg658Lys missense ADAMTS16 1 83210 1.20178E-5 41605 0 NA
5-5235251-C-T p.Arg659* stop_gained ADAMTS16 1 83180 1.20221E-5 41590 0 8.30937E-6
5-5235252-G-A p.Arg659Gln missense ADAMTS16 271 83132 0.00325988 41566 0 0.00662589
5-5235252-G-T p.Arg659Leu missense ADAMTS16 1 83140 1.20279E-5 41570 0 NA
5-5235257-A-G p.Arg661Gly missense ADAMTS16 1 83148 1.20267E-5 41574 0 NA
5-5235264-G-A p.Arg663Gln missense ADAMTS16 12 83058 1.44477E-4 41529 0 5.83265E-5
5-5235271-C-T p.Tyr665Tyr synonymous ADAMTS16 1 83030 1.20438E-5 41515 0 3.18451E-5
5-5235287-A-G p.Thr671Ala missense ADAMTS16 2 82814 2.41505E-5 41407 0 1.6856E-5
5-5235297-A-G p.Glu674Gly missense+splice_region ADAMTS16 2 82598 2.42137E-5 41299 0 3.1837E-5
5-5235301-T-C c.2023+2T>C splice_donor ADAMTS16 1 82480 1.21242E-5 41240 0 NA
5-5235304-A-G c.2023+5A>G splice_region ADAMTS16 1 82434 1.21309E-5 41217 0 1.27256E-5
5-5235305-T-C c.2023+6T>C splice_region ADAMTS16 4 82396 4.8546E-5 41198 0 1.69974E-5
5-5237111-G-A p.Ala685Thr missense ADAMTS16 6 83298 7.20305E-5 41649 0 5.03525E-4
5-5237118-G-A p.Gly687Glu missense ADAMTS16 2 83306 2.40079E-5 41653 0 8.285E-6
5-5237123-G-C p.Asp689His missense ADAMTS16 1 83308 1.20036E-5 41654 0 3.18634E-5
5-5237125-TTTC-T p.Phe692del disruptive_inframe_deletion ADAMTS16 2 83312 2.40061E-5 41656 0 4.00969E-6
5-5237132-T-C p.Phe692Leu missense ADAMTS16 2 83316 2.4005E-5 41658 0 9.55049E-5
5-5237134-T-C p.Phe692Phe synonymous ADAMTS16 1 83318 1.20022E-5 41659 0 8.28267E-6
5-5237144-A-G p.Asn696Asp missense ADAMTS16 1 83302 1.20045E-5 41651 0 NA
5-5237151-T-A p.Val698Asp missense ADAMTS16 1 83312 1.20031E-5 41656 0 NA
5-5237168-T-C p.Cys704Arg missense ADAMTS16 5 83312 6.00154E-5 41656 0 5.61199E-5
5-5237204-A-G p.Ile716Val missense ADAMTS16 1 83258 1.20109E-5 41629 0 NA
5-5239258-C-T c.2155-6C>T splice_region ADAMTS16 1 82518 1.21186E-5 41259 0 NA
5-5239290-A-G p.Gly727Gly synonymous ADAMTS16 1 83116 1.20314E-5 41558 0 2.64392E-5
5-5239291-T-G p.Ser728Ala missense ADAMTS16 2 83118 2.40622E-5 41559 0 NA
5-5239307-A-T p.Asp733Val missense ADAMTS16 3 83174 3.6069E-5 41587 0 NA
5-5239309-G-A p.Val734Ile missense ADAMTS16 707 83248 0.0084927 41624 3 0.00828023
5-5239322-G-A p.Cys738Tyr missense ADAMTS16 2 83320 2.40038E-5 41660 0 8.60097E-6
5-5239326-C-T p.Asn739Asn synonymous ADAMTS16 24 83298 2.88122E-4 41649 0 6.25E-4
5-5239327-G-A p.Gly740Arg missense ADAMTS16 8 83298 9.60407E-5 41649 0 4.16618E-6
5-5239344-C-T p.Cys745Cys synonymous ADAMTS16 1 83318 1.20022E-5 41659 0 8.6411E-6
5-5239346-C-T p.Thr746Met missense ADAMTS16 2 83318 2.40044E-5 41659 0 4.32279E-5
5-5239351-C-T p.His748Tyr missense ADAMTS16 2 83332 2.40004E-5 41666 0 NA
5-5239371-G-A p.Lys754Lys synonymous ADAMTS16 1 83246 1.20126E-5 41623 0 4.60015E-6
5-5239375-C-T p.His756Tyr missense ADAMTS16 28 83254 3.3632E-4 41627 3 0.00122794
5-5239385-A-G p.Asn759Ser missense+splice_region ADAMTS16 1 83234 1.20143E-5 41617 0 NA
5-5239387-C-A p.Gln760Lys missense+splice_region ADAMTS16 1 83224 1.20158E-5 41612 0 5.10017E-6
5-5239388-G-A c.2278+1G>A splice_donor ADAMTS16 1 83210 1.20178E-5 41605 0 NA
5-5239788-A-T c.2279-6A>T splice_region ADAMTS16 3 83260 3.60317E-5 41630 0 0.001875
5-5239808-G-A p.Val765Ile missense ADAMTS16 1 83322 1.20016E-5 41661 0 1.60345E-5
5-5239809-T-A p.Val765Asp missense ADAMTS16 1 83326 1.20011E-5 41663 0 1.65664E-5
5-5239810-C-T p.Val765Val synonymous ADAMTS16 1 83336 1.19996E-5 41668 0 4.00821E-6
5-5239815-T-C p.Ile767Thr missense ADAMTS16 1 83348 1.19979E-5 41674 0 NA
5-5239829-C-T p.Arg772Trp missense ADAMTS16 3 83360 3.59885E-5 41680 0 2.4841E-5
5-5239834-T-A p.Ser773Arg missense ADAMTS16 1 83372 1.19944E-5 41686 0 NA
5-5239838-C-T p.Arg775Cys missense ADAMTS16 1 83384 1.19927E-5 41692 0 4.00689E-6
5-5239847-G-A p.Glu778Lys missense ADAMTS16 9 83390 1.07927E-4 41695 0 6.36821E-5
5-5239855-C-T p.Asn780Asn synonymous ADAMTS16 31 83390 3.71747E-4 41695 0 7.32624E-4
5-5239856-G-A p.Val781Ile missense ADAMTS16 1 83394 1.19913E-5 41697 0 NA
5-5239862-A-G p.Thr783Ala missense ADAMTS16 28 83398 3.35739E-4 41699 0 0.00105988
5-5239867-C-T p.Ser784Ser synonymous ADAMTS16 1 83400 1.19904E-5 41700 0 1.20201E-5
5-5239876-T-C p.Ser787Ser synonymous ADAMTS16 2 83398 2.39814E-5 41699 0 3.1841E-5
5-5239880-C-T p.Arg789Cys missense ADAMTS16 166 83392 0.0019906 41696 0 0.00334374
5-5239887-C-T p.Ala791Val missense ADAMTS16 2 83392 2.39831E-5 41696 0 3.1841E-5
5-5239888-C-G p.Ala791Ala synonymous ADAMTS16 1 83394 1.19913E-5 41697 0 NA
5-5239891-C-T p.Leu792Leu synonymous ADAMTS16 1 83390 1.19918E-5 41695 0 4.14017E-5
5-5239894-A-C p.Arg793Ser missense ADAMTS16 1 83390 1.19918E-5 41695 0 NA
5-5239899-A-T p.Tyr795Phe missense ADAMTS16 5 83382 5.9965E-5 41691 0 2.89812E-4
5-5239904-C-T p.Leu797Leu synonymous ADAMTS16 2 83386 2.39848E-5 41693 0 8.01327E-6
5-5239912-G-A p.Gly799Gly synonymous ADAMTS16 1 83386 1.19924E-5 41693 0 3.18492E-5
5-5239913-C-T p.His800Tyr missense ADAMTS16 1 83386 1.19924E-5 41693 0 NA
5-5239921-C-T p.Thr802Thr synonymous ADAMTS16 14445 83268 0.173476 41634 1373 0.251875
5-5239922-G-A p.Val803Met missense ADAMTS16 1 83382 1.1993E-5 41691 0 3.18512E-5
5-5239924-G-A p.Val803Val synonymous ADAMTS16 1 83382 1.1993E-5 41691 0 NA
5-5239933-C-T p.Pro806Pro synonymous ADAMTS16 2 83378 2.39871E-5 41689 0 1.65634E-5
5-5239934-G-A p.Gly807Ser missense ADAMTS16 1 83368 1.1995E-5 41684 0 1.6564E-5
5-5239937-C-T p.Arg808Trp missense ADAMTS16 1 83362 1.19959E-5 41681 0 NA
5-5239938-G-A p.Arg808Gln missense ADAMTS16 4 83364 4.79823E-5 41682 0 5.03525E-4
5-5239950-C-T p.Ser812Leu missense ADAMTS16 1 83350 1.19976E-5 41675 0 4.00663E-6
5-5239958-A-G p.Thr815Ala missense ADAMTS16 1 83338 1.19993E-5 41669 0 4.00676E-6
5-5239964-G-A p.Asp817Asn missense ADAMTS16 4 83326 4.80042E-5 41663 0 6.63273E-5
5-5239973-C-T p.Arg820Trp missense ADAMTS16 1 83296 1.20054E-5 41648 0 6.37186E-5
5-5239974-GGTCCT-G p.Ser821fs frameshift ADAMTS16 1 83280 1.20077E-5 41640 0 NA
5-5239974-G-A p.Arg820Gln missense ADAMTS16 5 83280 6.00384E-5 41640 0 2.80507E-5
5-5239979-T-TAA p.Tyr822fs frameshift ADAMTS16 1 83266 1.20097E-5 41633 0 NA
5-5239984-T-C p.Asn823Asn synonymous ADAMTS16 1 83232 1.20146E-5 41616 0 NA
5-5240002-C-A p.Ile829Ile synonymous ADAMTS16 13284 81920 0.162158 40960 981 0.25
5-5240003-G-A p.Ala830Thr missense ADAMTS16 2 82982 2.41016E-5 41491 0 5.83615E-5
5-5240008-T-C p.Thr831Thr synonymous ADAMTS16 1 82874 1.20665E-5 41437 0 3.18512E-5
5-5240008-T-A p.Thr831Thr synonymous ADAMTS16 2 82874 2.4133E-5 41437 0 8.34697E-5
5-5240016-C-T p.Thr834Ile missense ADAMTS16 1 82726 1.20881E-5 41363 0 4.01949E-6
5-5240017-C-A p.Thr834Thr synonymous ADAMTS16 170 82718 0.00205518 41359 0 0.00391944
5-5240020-C-T p.Asn835Asn synonymous ADAMTS16 55 82614 6.65747E-4 41307 0 0.0015121
5-5240033-G-A p.Val840Met missense ADAMTS16 1 82092 1.21815E-5 41046 0 8.07011E-6
5-5240041-A-G c.2523+3A>G splice_region ADAMTS16 1 81648 1.22477E-5 40824 0 8.08623E-6
5-5242171-G-T p.Leu843Leu synonymous ADAMTS16 3 83368 3.5985E-5 41684 0 3.18573E-5
5-5242173-T-A p.Phe844Tyr missense ADAMTS16 1 83370 1.19947E-5 41685 0 NA
5-5242179-G-C p.Gly846Ala missense ADAMTS16 2 83364 2.39912E-5 41682 0 3.18512E-5
5-5242188-C-T p.Pro849Leu missense ADAMTS16 11 83362 1.31955E-4 41681 0 6.37146E-5
5-5242198-C-T p.Ala852Ala synonymous ADAMTS16 3 83364 3.59868E-5 41682 0 2.48571E-5
5-5242207-C-G p.Tyr855* stop_gained ADAMTS16 1 83350 1.19976E-5 41675 0 8.28459E-6
5-5242214-C-T p.Pro858Ser missense ADAMTS16 1 83342 1.19988E-5 41671 0 NA
5-5242217-C-T p.Arg859Cys missense ADAMTS16 18 83338 2.15988E-4 41669 0 9.11305E-5
5-5242218-G-T p.Arg859Leu missense ADAMTS16 1308 83306 0.0157012 41653 50 0.0307228
5-5242218-G-A p.Arg859His missense ADAMTS16 8 83326 9.60085E-5 41663 0 9.55718E-5
5-5242219-C-G p.Arg859Arg synonymous ADAMTS16 1 83326 1.20011E-5 41663 0 4.00718E-6
5-5242220-T-G p.Leu860Val missense ADAMTS16 7 83324 8.40094E-5 41662 0 5.03525E-4
5-5242222-G-C p.Leu860Phe missense ADAMTS16 2 83320 2.40038E-5 41660 0 NA
5-5242228-C-T p.Thr862Thr synonymous ADAMTS16 1308 83282 0.0157057 41641 50 0.0306887
5-5242229-G-A p.Glu863Lys missense ADAMTS16 80 83300 9.60384E-4 41650 0 0.00200675
5-5242231-G-A p.Glu863Glu synonymous ADAMTS16 1 83300 1.20048E-5 41650 0 NA
5-5242239-C-A p.Pro866His missense ADAMTS16 2 83296 2.40108E-5 41648 0 4.97051E-5
5-5242241-C-G p.Pro867Ala missense ADAMTS16 2 83286 2.40136E-5 41643 0 8.28528E-6
5-5242246-C-T p.Ala868Ala synonymous ADAMTS16 1 83292 1.2006E-5 41646 0 1.04188E-4
5-5242258-C-T p.Tyr872Tyr synonymous ADAMTS16 2 83246 2.40252E-5 41623 0 1.65741E-5
5-5242262-T-C p.Trp874Arg missense ADAMTS16 1 83224 1.20158E-5 41612 0 8.28926E-6
5-5242269-T-C p.Ile876Thr missense ADAMTS16 4 83210 4.80711E-5 41605 0 8.29077E-6
5-5242270-C-G p.Ile876Met missense ADAMTS16 2 83206 2.40367E-5 41603 0 NA
5-5242270-C-T p.Ile876Ile synonymous ADAMTS16 3 83206 3.60551E-5 41603 0 8.01693E-6
5-5242271-G-A p.Val877Met missense ADAMTS16 5 83210 6.00889E-5 41605 0 3.18451E-5
5-5242274-C-T p.Arg878Cys missense ADAMTS16 1 83182 1.20218E-5 41591 0 2.00451E-5
5-5242288-C-T p.Ser882Ser synonymous ADAMTS16 28 83076 3.37041E-4 41538 0 5.09749E-4
5-5242289-G-A p.Val883Met missense ADAMTS16 6 83060 7.22369E-5 41530 0 2.80939E-5
5-5242297-C-T p.Cys885Cys synonymous ADAMTS16 6 82962 7.23223E-5 41481 0 7.47645E-5
5-5242312-C-T c.2662+8C>T splice_region ADAMTS16 3 82658 3.62941E-5 41329 0 NA
5-5262766-G-A c.2663-4G>A splice_region ADAMTS16 20174 82834 0.243547 41417 2622 0.2525
5-5262780-C-T p.Thr891Thr synonymous ADAMTS16 7 83310 8.40235E-5 41655 0 9.55231E-5
5-5262781-G-T p.Val892Leu missense ADAMTS16 3 83308 3.60109E-5 41654 0 NA
5-5262781-G-A p.Val892Met missense ADAMTS16 12 83308 1.44044E-4 41654 0 0.001047
5-5262788-A-G p.Glu894Gly missense ADAMTS16 1 83316 1.20025E-5 41658 0 NA
5-5262789-G-C p.Glu894Asp missense ADAMTS16 1 83316 1.20025E-5 41658 0 4.01014E-5
5-5262793-T-G p.Cys896Gly missense ADAMTS16 1 83318 1.20022E-5 41659 0 NA
5-5262802-G-T p.Asp899Tyr missense ADAMTS16 3 83322 3.60049E-5 41661 0 1.65758E-5
5-5262824-T-C p.Met906Thr missense ADAMTS16 1 83322 1.20016E-5 41661 0 3.1837E-5
5-5262827-C-T p.Ser907Phe missense ADAMTS16 1 83318 1.20022E-5 41659 0 NA
5-5262831-CT-C p.Cys909fs frameshift ADAMTS16 1 83320 1.20019E-5 41660 0 4.00718E-6
5-5262836-A-G p.Asn910Ser missense ADAMTS16 19 83314 2.28053E-4 41657 1 5.09457E-4
5-5262848-G-A p.Arg914Gln missense ADAMTS16 1 83306 1.20039E-5 41653 0 8.28308E-6
5-5262857-C-T p.Thr917Met missense ADAMTS16 4 83286 4.80273E-5 41643 0 5.04032E-4
5-5262867-G-A p.Val920Val synonymous ADAMTS16 298 83286 0.00357803 41643 6 0.00875796
5-5262867-G-T p.Val920Val synonymous ADAMTS16 1 83294 1.20057E-5 41647 0 6.36943E-5
5-5262877-G-A p.Val924Ile missense ADAMTS16 1 83272 1.20088E-5 41636 0 4.00927E-6
5-5262879-A-G p.Val924Val synonymous ADAMTS16 2 83284 2.40142E-5 41642 0 1.20285E-5
5-5262884-C-T p.Ala926Val missense ADAMTS16 2 83274 2.40171E-5 41637 0 9.63283E-5
5-5262889-C-A p.Pro928Thr missense ADAMTS16 2 83258 2.40217E-5 41629 0 NA
5-5262892-C-T p.Pro929Ser missense ADAMTS16 2 83252 2.40234E-5 41626 0 NA
5-5303374-TG-T c.2790-6delG splice_region ADAMTS16 1 75646 1.32195E-5 37823 0 1.31711E-5
5-5303388-G-C p.Val933Leu missense ADAMTS16 1 76380 1.30924E-5 38190 0 NA
5-5303395-A-G p.Asn935Ser missense ADAMTS16 1 76676 1.30419E-5 38338 0 1.18835E-5
5-5303413-G-A p.Arg941Gln missense ADAMTS16 3 76752 3.90869E-5 38376 0 3.18796E-5
5-5303414-G-C p.Arg941Arg synonymous ADAMTS16 1 76756 1.30283E-5 38378 0 NA
5-5303416-C-A p.Thr942Lys missense ADAMTS16 113 76654 0.00147416 38327 1 0.00337924
5-5303417-G-A p.Thr942Thr synonymous ADAMTS16 6 76828 7.80965E-5 38414 0 4.53227E-5
5-5303421-G-A p.Gly944Ser missense ADAMTS16 2 76742 2.60613E-5 38371 0 NA
5-5303422-G-A p.Gly944Asp missense ADAMTS16 1 76672 1.30426E-5 38336 0 NA
5-5303423-C-T p.Gly944Gly synonymous ADAMTS16 2 76560 2.61233E-5 38280 0 3.47102E-5
5-5303424-G-A p.Gly945Arg missense ADAMTS16 899 76654 0.011728 38327 7 0.0152488
5-5303439-C-T p.Arg950Cys missense ADAMTS16 1 75366 1.32686E-5 37683 0 3.18939E-5
5-5303440-G-A p.Arg950His missense ADAMTS16 3 75106 3.99435E-5 37553 0 3.47689E-5
5-5303445-G-A p.Val952Met missense ADAMTS16 2 75312 2.65562E-5 37656 0 3.1902E-5
5-5303445-G-T p.Val952Leu missense ADAMTS16 1 75314 1.32777E-5 37657 0 3.1902E-5
5-5303457-C-T p.Arg956Trp missense ADAMTS16 2 75868 2.63616E-5 37934 0 1.20502E-5
5-5303458-G-A p.Arg956Gln missense ADAMTS16 2 75898 2.63512E-5 37949 0 2.3994E-5
5-5303459-G-A p.Arg956Arg synonymous ADAMTS16 2 75898 2.63512E-5 37949 0 1.2008E-5
5-5303460-C-T p.Arg957Trp missense ADAMTS16 10 75852 1.31836E-4 37926 0 1.81269E-4
5-5303461-G-A p.Arg957Gln missense ADAMTS16 5 76186 6.56289E-5 38093 0 3.21254E-4
5-5303472-GA-G p.Asp961fs frameshift ADAMTS16 1 75512 1.32429E-5 37756 0 NA
5-5303476-C-G p.Ser962Trp missense ADAMTS16 1 75460 1.32521E-5 37730 0 4.6424E-6
5-5303488-C-T p.Pro966Leu missense ADAMTS16 3 76834 3.90452E-5 38417 0 1.37026E-5
5-5303489-G-A p.Pro966Pro synonymous ADAMTS16 1 76660 1.30446E-5 38330 0 NA
5-5303495-C-T p.Ser968Ser synonymous ADAMTS16 1 77538 1.28969E-5 38769 0 NA
5-5303495-C-A p.Ser968Arg missense ADAMTS16 1 77538 1.28969E-5 38769 0 NA
5-5303496-C-T p.Leu969Leu synonymous ADAMTS16 1 77822 1.28498E-5 38911 0 NA
5-5303505-C-T p.Gln972* stop_gained ADAMTS16 1 78348 1.27636E-5 39174 0 NA
5-5303511-G-A p.Ala974Thr missense ADAMTS16 1 78574 1.27269E-5 39287 0 1.33276E-5
5-5303530-C-G p.Ala980Gly missense ADAMTS16 2 79336 2.52092E-5 39668 0 3.18756E-5
5-5303537-C-A p.Asn982Lys missense ADAMTS16 1 79754 1.25386E-5 39877 0 2.29221E-5
5-5303554-C-T p.Pro988Leu missense ADAMTS16 3 80018 3.74916E-5 40009 0 4.1833E-6
5-5303555-T-C p.Pro988Pro synonymous ADAMTS16 48 80012 5.9991E-4 40006 0 0.0010101
5-5303559-T-C p.Trp990Arg missense ADAMTS16 1 80106 1.24835E-5 40053 0 3.15982E-5
5-5303564-C-T p.Ser991Ser synonymous ADAMTS16 1 79884 1.25182E-5 39942 0 5.04541E-4
5-5303565-G-A p.Ala992Thr missense ADAMTS16 5 79960 6.25313E-5 39980 0 6.25E-4
5-5303567-C-CA p.Gly993fs frameshift ADAMTS16 1 80024 1.24963E-5 40012 0 NA
5-5303567-C-T p.Ala992Ala synonymous ADAMTS16 8 80022 9.99725E-5 40011 0 0.00252525
5-5303568-G-A p.Gly993Arg missense ADAMTS16 4 80060 4.99625E-5 40030 0 6.3743E-5
5-5303570-G-C p.Gly993Gly synonymous ADAMTS16 17 80052 2.12362E-4 40026 0 4.46059E-4
5-5303585-A-T c.2991+3A>T splice_region ADAMTS16 1 80256 1.24601E-5 40128 0 NA
5-5303678-T-C c.2992-7T>C splice_region ADAMTS16 1 82678 1.20951E-5 41339 0 9.5584E-5
5-5303693-C-T p.His1000His synonymous ADAMTS16 4 82732 4.83489E-5 41366 0 1.20856E-5
5-5303696-C-G p.Thr1001Thr synonymous ADAMTS16 2 82738 2.41727E-5 41369 0 4.0257E-6
5-5303702-G-T p.Gly1003Gly synonymous ADAMTS16 1 82768 1.2082E-5 41384 0 NA
5-5303718-C-A p.Arg1009Arg synonymous ADAMTS16 4 82670 4.83851E-5 41335 0 6.37308E-5
5-5303719-G-A p.Arg1009Gln missense ADAMTS16 6 82692 7.25584E-5 41346 0 2.15993E-4
5-5303725-T-C p.Val1011Ala missense ADAMTS16 1 82678 1.20951E-5 41339 0 NA
5-5303744-C-A p.Asn1017Lys missense ADAMTS16 1 82616 1.21042E-5 41308 0 NA
5-5303749-C-T p.Ser1019Leu missense ADAMTS16 21 82524 2.54471E-4 41262 0 2.56896E-4
5-5303750-G-A p.Ser1019Ser synonymous ADAMTS16 1 82488 1.2123E-5 41244 0 1.20406E-5
5-5303764-T-G p.Leu1024Arg missense ADAMTS16 8 82436 9.7045E-5 41218 0 5.03525E-4
5-5303765-G-A p.Leu1024Leu synonymous ADAMTS16 1 82384 1.21383E-5 41192 0 3.18634E-5
5-5303768-G-A p.Leu1025Leu synonymous ADAMTS16 1 82328 1.21465E-5 41164 0 NA
5-5303771-C-T p.Pro1026Pro synonymous ADAMTS16 1 82350 1.21433E-5 41175 0 6.25E-4
5-5303774-C-T p.Asp1027Asp synonymous ADAMTS16 363 82338 0.00440866 41169 3 0.00857179
5-5303779-T-C p.Val1029Ala missense ADAMTS16 1 82324 1.21471E-5 41162 0 NA
5-5303788-C-T p.Ser1032Phe missense ADAMTS16 168 82342 0.00204027 41171 1 0.005
5-5303789-C-T p.Ser1032Ser synonymous ADAMTS16 1 82318 1.2148E-5 41159 0 8.02871E-6
5-5303789-C-G p.Ser1032Ser synonymous ADAMTS16 1 82318 1.2148E-5 41159 0 NA
5-5303790-G-A p.Glu1033Lys missense ADAMTS16 4 82318 4.8592E-5 41159 0 1.00353E-4
5-5303801-C-T p.Pro1036Pro synonymous ADAMTS16 101 82336 0.00122668 41168 2 0.00366429
5-5303809-A-C p.His1039Pro missense ADAMTS16 1 82256 1.21572E-5 41128 0 NA
5-5303809-A-G p.His1039Arg missense ADAMTS16 1 82256 1.21572E-5 41128 0 3.18613E-5
5-5303811-G-A p.Glu1040Lys missense ADAMTS16 19 82252 2.30997E-4 41126 0 7.52458E-5
5-5303829-C-T p.Arg1046Cys missense ADAMTS16 4 82270 4.86204E-5 41135 0 6.25E-4
5-5303830-G-A p.Arg1046His missense ADAMTS16 1 82218 1.21628E-5 41109 0 8.46726E-6
5-5303837-C-T p.His1048His synonymous ADAMTS16 1 82416 1.21336E-5 41208 0 2.51872E-5
5-5303841-C-T p.Pro1050Ser missense ADAMTS16 3 82428 3.63954E-5 41214 0 2.52215E-5
5-5303848-A-G p.Lys1052Arg missense ADAMTS16 1 82396 1.21365E-5 41198 0 NA
5-5303866-C-A p.Ser1058Tyr missense ADAMTS16 1 81982 1.21978E-5 40991 0 NA
5-5303867-C-T p.Ser1058Ser synonymous ADAMTS16 22 81992 2.68319E-4 40996 1 0.00505051
5-5303919-C-T n.3226C>T splice_region ADAMTS16 1 80982 1.23484E-5 40491 0 1.31794E-5
5-5306606-CTTCT-C c.3187-10_3187-7delTTCT splice_region ADAMTS16 1 83046 1.20415E-5 41523 0 NA
5-5306610-T-G c.3187-7T>G splice_region ADAMTS16 2 83076 2.40743E-5 41538 0 NA
5-5306616-G-A c.3187-1G>A splice_acceptor ADAMTS16 1 83158 1.20253E-5 41579 0 NA
5-5306628-A-G p.Thr1066Thr synonymous ADAMTS16 2 83294 2.40113E-5 41647 0 3.18492E-5
5-5306638-G-A p.Gly1070Arg missense ADAMTS16 1 83338 1.19993E-5 41669 0 3.1841E-5
5-5306651-G-T p.Arg1074Ile missense ADAMTS16 1 83372 1.19944E-5 41686 0 NA
5-5306655-C-G p.Phe1075Leu missense ADAMTS16 1 83382 1.1993E-5 41691 0 NA
5-5306656-T-C p.Leu1076Leu synonymous ADAMTS16 3 83382 3.5979E-5 41691 0 NA
5-5306660-A-C p.Lys1077Thr missense ADAMTS16 3 83380 3.59799E-5 41690 0 NA
5-5306665-G-A p.Ala1079Thr missense ADAMTS16 1 83386 1.19924E-5 41693 0 NA
5-5306667-T-C p.Ala1079Ala synonymous ADAMTS16 3 83392 3.59747E-5 41696 0 NA
5-5306670-A-G p.Glu1080Glu synonymous ADAMTS16 1 83388 1.19921E-5 41694 0 8.28555E-6
5-5306673-G-T p.Lys1081Asn missense ADAMTS16 2 83392 2.39831E-5 41696 0 5.03525E-4
5-5306675-A-C p.Tyr1082Ser missense ADAMTS16 2 83392 2.39831E-5 41696 0 NA
5-5306682-T-C p.Ser1084Ser synonymous ADAMTS16 2 83390 2.39837E-5 41695 0 NA
5-5306689-T-C p.Tyr1087His missense ADAMTS16 12 83390 1.43902E-4 41695 0 5.03525E-4
5-5306693-G-A p.Arg1088Gln missense ADAMTS16 8 83390 9.59348E-5 41695 0 6.81172E-5
5-5306703-C-G p.Ala1091Ala synonymous ADAMTS16 2 83390 2.39837E-5 41695 0 1.65686E-5
5-5306715-C-T p.Cys1095Cys synonymous ADAMTS16 1 83380 1.19933E-5 41690 0 8.28734E-6
5-5306720-A-C p.His1097Pro missense ADAMTS16 1 83374 1.19941E-5 41687 0 4.00689E-6
5-5306726-C-A p.Pro1099Gln missense ADAMTS16 9 83358 1.07968E-4 41679 0 3.18471E-5
5-5306726-C-T p.Pro1099Leu missense ADAMTS16 3 83362 3.59876E-5 41681 0 3.18471E-5
5-5306727-G-A p.Pro1099Pro synonymous ADAMTS16 1 83362 1.19959E-5 41681 0 1.27405E-4
5-5306740-G-A p.Glu1104Lys missense ADAMTS16 3 83348 3.59937E-5 41674 0 3.18593E-5
5-5306742-G-C p.Glu1104Asp missense ADAMTS16 2 83352 2.39946E-5 41676 0 9.55597E-5
5-5306745-G-T p.Leu1105Leu synonymous ADAMTS16 4 83344 4.79939E-5 41672 0 4.15296E-5
5-5306749-C-T p.Arg1107Cys missense ADAMTS16 2 83334 2.39998E-5 41667 0 1.91332E-4
5-5306757-C-T p.Cys1109Cys synonymous ADAMTS16 14 83294 1.68079E-4 41647 0 1.25184E-4
5-5306759-C-A p.Ala1110Asp missense ADAMTS16 1 83292 1.2006E-5 41646 0 3.18492E-5
5-5306759-C-T p.Ala1110Val missense ADAMTS16 1 83292 1.2006E-5 41646 0 8.34989E-6
5-5306767-C-T p.Pro1113Ser missense ADAMTS16 3 83274 3.60256E-5 41637 0 NA
5-5306782-C-T p.Pro1118Ser missense ADAMTS16 96 83132 0.00115479 41566 0 0.00170523
5-5306793-T-C p.Ala1121Ala synonymous ADAMTS16 11 82946 1.32616E-4 41473 0 1.27397E-4
5-5306795-C-T p.Ala1122Val missense ADAMTS16 3 82850 3.621E-5 41425 0 8.99216E-6
5-5306797-G-C p.Ala1123Pro missense ADAMTS16 1 82748 1.20849E-5 41374 0 4.02476E-6
5-5306798-C-T p.Ala1123Val missense ADAMTS16 15 82684 1.81414E-4 41342 0 4.83984E-5
5-5306805-CT-C p.Ser1126fs frameshift ADAMTS16 1 82446 1.21292E-5 41223 0 NA
5-5306807-C-G p.Ser1126Trp missense ADAMTS16 3 82306 3.64493E-5 41153 0 1.96433E-5
5-5306808-G-A p.Ser1126Ser synonymous ADAMTS16 1 82168 1.21702E-5 41084 0 2.02769E-5
5-5306826-C-T p.Ala1132Ala synonymous ADAMTS16 13 81272 1.59957E-4 40636 0 2.31257E-4
5-5306828-C-T p.Ser1133Leu missense ADAMTS16 8 81186 9.85392E-5 40593 0 4.72724E-5
5-5318251-C-T p.Thr1139Met missense ADAMTS16 7 72330 9.67787E-5 36165 0 2.65675E-4
5-5318252-G-A p.Thr1139Thr synonymous ADAMTS16 3 72638 4.13007E-5 36319 0 4.00465E-5
5-5318262-G-A p.Gly1143Arg missense ADAMTS16 3 74594 4.02177E-5 37297 0 NA
5-5318271-G-A p.Val1146Ile missense ADAMTS16 19 75620 2.51256E-4 37810 0 4.87969E-4
5-5318278-C-A p.Thr1148Lys missense ADAMTS16 1 76732 1.30324E-5 38366 0 1.60736E-5
5-5318279-G-A p.Thr1148Thr synonymous ADAMTS16 1 76932 1.29985E-5 38466 0 0.00101215
5-5318280-A-T p.Arg1149Trp missense ADAMTS16 1 77046 1.29793E-5 38523 0 3.18674E-5
5-5318285-C-A p.Ser1150Ser synonymous ADAMTS16 178 77542 0.00229553 38771 2 0.00580024
5-5318285-C-T p.Ser1150Ser synonymous ADAMTS16 8 77564 1.03141E-4 38782 0 2.54956E-4
5-5318286-G-A p.Val1151Met missense ADAMTS16 1 77712 1.2868E-5 38856 0 3.18634E-5
5-5318294-C-T p.Cys1153Cys synonymous ADAMTS16 34 78382 4.33773E-4 39191 0 0.00309
5-5318295-C-T p.Leu1154Leu synonymous ADAMTS16 4 78458 5.09827E-5 39229 0 1.44454E-5
5-5318301-G-C p.Gly1156Arg missense ADAMTS16 2 78684 2.54181E-5 39342 0 NA
5-5318301-G-A p.Gly1156Arg missense ADAMTS16 1 78684 1.27091E-5 39342 0 NA
5-5318302-G-T p.Gly1156Val missense ADAMTS16 3 78670 3.8134E-5 39335 0 6.25E-4
5-5318302-G-C p.Gly1156Ala missense ADAMTS16 2 78672 2.5422E-5 39336 0 NA
5-5318303-G-C p.Gly1156Gly synonymous ADAMTS16 2 78630 2.54356E-5 39315 0 5.62509E-5
5-5318303-G-GGGCC p.Ser1161fs frameshift ADAMTS16 1 78630 1.27178E-5 39315 0 4.66092E-6
5-5318307-C-T p.Arg1158Trp missense ADAMTS16 41 78696 5.20992E-4 39348 0 4.97994E-4
5-5318308-G-A p.Arg1158Gln missense ADAMTS16 1 78948 1.26666E-5 39474 0 4.61834E-6
5-5318311-C-T p.Pro1159Leu missense ADAMTS16 4 79178 5.05191E-5 39589 0 0.00202224
5-5318312-G-A p.Pro1159Pro synonymous ADAMTS16 1 79286 1.26126E-5 39643 0 9.56328E-5
5-5318329-T-C p.Leu1165Pro missense ADAMTS16 2 80276 2.4914E-5 40138 0 8.87485E-6
5-5318330-G-C p.Leu1165Leu synonymous ADAMTS16 12 80268 1.49499E-4 40134 0 2.4714E-4
5-5318335-A-C p.Gln1167Pro missense ADAMTS16 347 80344 0.00431893 40172 4 0.00920558
5-5318335-A-T p.Gln1167Leu missense ADAMTS16 2 80386 2.488E-5 40193 0 6.37064E-5
5-5318339-G-A p.Lys1168Lys synonymous ADAMTS16 1 80516 1.24199E-5 40258 0 NA
5-5318344-C-T p.Ser1170Leu missense ADAMTS16 5 80570 6.20578E-5 40285 0 0.00151057
5-5318345-G-A p.Ser1170Ser synonymous ADAMTS16 18 80558 2.23442E-4 40279 0 1.34508E-4
5-5318350-C-T p.Ser1172Phe missense ADAMTS16 30 80684 3.71821E-4 40342 0 0.00125
5-5318365-C-A p.Thr1177Asn missense ADAMTS16 19 80652 2.3558E-4 40326 0 0.004375
5-5318365-C-T p.Thr1177Ile missense ADAMTS16 2 80656 2.47967E-5 40328 0 4.69717E-6
5-5318365-C-G p.Thr1177Ser missense ADAMTS16 2 80656 2.47967E-5 40328 0 NA
5-5318377-C-A p.Pro1181His missense ADAMTS16 2 80460 2.48571E-5 40230 0 2.09389E-5
5-5318402-C-T c.3559+8C>T splice_region ADAMTS16 135 77732 0.00173674 38866 0 0.00153092
5-5319130-T-A c.3560-6T>A splice_region ADAMTS16 1 82548 1.21142E-5 41274 0 4.13179E-6
5-5319132-T-G c.3560-4T>G splice_region ADAMTS16 2 82568 2.42225E-5 41284 0 2.50488E-5
5-5319133-C-T c.3560-3C>T splice_region ADAMTS16 2 82600 2.42131E-5 41300 0 1.64528E-5
5-5319137-T-A p.Asp1187Glu missense+splice_region ADAMTS16 1 82672 1.2096E-5 41336 0 NA
5-5319159-C-T p.His1195Tyr missense ADAMTS16 2 82926 2.41179E-5 41463 0 2.90411E-5
5-5319171-C-T p.Leu1199Leu synonymous ADAMTS16 1 82986 1.20502E-5 41493 0 NA
5-5319174-G-A p.Val1200Ile missense ADAMTS16 9 82990 1.08447E-4 41495 0 5.58036E-5
5-5319185-C-T p.His1203His synonymous ADAMTS16 441 82996 0.00531351 41498 3 0.005625
5-5319185-C-A p.His1203Gln missense ADAMTS16 36 83012 4.33672E-4 41506 0 3.74363E-4
5-5319187-G-C p.Gly1204Ala missense ADAMTS16 1 83028 1.20441E-5 41514 0 NA
5-5319189-A-T p.Met1205Leu missense ADAMTS16 1 83028 1.20441E-5 41514 0 NA
5-5319191-G-A p.Met1205Ile missense ADAMTS16 1 83010 1.20467E-5 41505 0 9.18071E-6
5-5319198-C-T p.His1208Tyr missense ADAMTS16 1 83012 1.20465E-5 41506 0 NA
5-5319200-C-A p.His1208Gln missense ADAMTS16 3 83002 3.61437E-5 41501 0 1.20736E-5
5-5319202-A-G p.Lys1209Arg missense ADAMTS16 4 83014 4.81846E-5 41507 0 3.1839E-5
5-5319209-C-T p.Tyr1211Tyr synonymous ADAMTS16 9 82968 1.08476E-4 41484 0 7.25707E-5
5-5319210-G-A p.Gly1212Ser missense ADAMTS16 4 82964 4.82137E-5 41482 0 6.25E-4
5-5319224-C-T p.Cys1216Cys synonymous ADAMTS16 2 82860 2.41371E-5 41430 0 NA
5-5319225-A-C p.Lys1217Gln missense ADAMTS16 10 82842 1.20712E-4 41421 1 5.03525E-4
5-5319247-T-G p.Leu1224Trp missense ADAMTS16 1 82570 1.21109E-5 41285 0 6.93513E-5