Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-136287282-G-T c.-282G>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 4 13824 2.89352E-4 6912 0 3.82458E-4
9-136287394-C-T c.-170C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 36 42132 8.54457E-4 21066 0 0.0015629
9-136287409-C-T c.-155C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 50368 1.98539E-5 25184 0 6.37552E-5
9-136287461-C-T c.-103C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 75750 1.32013E-5 37875 0 NA
9-136287533-C-T c.-31C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 82562 1.21121E-5 41281 0 2.40828E-5
9-136287545-C-T c.-19C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 2 82726 2.41762E-5 41363 0 2.48332E-5
9-136287546-G-T c.-18G>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 82684 1.20942E-5 41342 0 7.9952E-6
9-136287558-C-T c.-6C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 82894 1.20636E-5 41447 0 3.18573E-5
9-136287573-C-T p.Arg4Cys missense ADAMTS13 1 82970 1.20525E-5 41485 0 3.30033E-5
9-136287574-G-A p.Arg4His missense ADAMTS13 3 82968 3.61585E-5 41484 0 4.78011E-5
9-136287576-C-T p.His5Tyr missense ADAMTS13 1 82990 1.20496E-5 41495 0 NA
9-136287579-C-T p.Pro6Ser missense ADAMTS13 1 83032 1.20435E-5 41516 0 8.24729E-6
9-136287580-C-G p.Pro6Arg missense ADAMTS13 4 83018 4.81823E-5 41509 0 5.77272E-5
9-136287582-C-T p.Arg7Trp missense ADAMTS13 8265 82772 0.0998526 41386 427 0.0964224
9-136287582-C-A p.Arg7Arg synonymous ADAMTS13 5 83000 6.0241E-5 41500 0 NA
9-136287583-G-A p.Arg7Gln missense ADAMTS13 1 82976 1.20517E-5 41488 0 4.94682E-5
9-136287592-G-A p.Cys10Tyr missense ADAMTS13 1 82988 1.20499E-5 41494 0 NA
9-136287604-G-C p.Cys14Ser missense ADAMTS13 1 82990 1.20496E-5 41495 0 8.23995E-6
9-136287612-G-A p.Gly17Arg missense ADAMTS13 6 82952 7.2331E-5 41476 0 1.59338E-5
9-136287621-G-A p.Ala20Thr missense ADAMTS13 8 82946 9.64483E-5 41473 0 2.22987E-4
9-136287655-C-A p.Ser31Tyr missense ADAMTS13 3 82744 3.62564E-5 41372 0 4.00019E-6
9-136288231-A-T p.Gln39Leu missense ADAMTS13 1 82988 1.20499E-5 41494 0 NA
9-136288249-C-A p.Ala45Asp missense ADAMTS13 1 83004 1.20476E-5 41502 0 8.24212E-6
9-136288250-C-A p.Ala45Ala synonymous ADAMTS13 1 82988 1.20499E-5 41494 0 3.21027E-5
9-136288250-C-T p.Ala45Ala synonymous ADAMTS13 2 82988 2.40999E-5 41494 0 4.77221E-5
9-136288250-C-G p.Ala45Ala synonymous ADAMTS13 1 82988 1.20499E-5 41494 0 NA
9-136288251-G-A p.Val46Met missense ADAMTS13 12 82994 1.44589E-4 41497 0 1.73082E-4
9-136288251-G-T p.Val46Leu missense ADAMTS13 1 82996 1.20488E-5 41498 0 1.19317E-5
9-136288261-A-G p.Tyr49Cys missense ADAMTS13 18 83004 2.16857E-4 41502 0 3.22186E-5
9-136288264-T-G p.Leu50Trp missense ADAMTS13 1 82988 1.20499E-5 41494 0 NA
9-136288267-G-T p.Ser51Ile missense ADAMTS13 2 83004 2.40952E-5 41502 0 NA
9-136288268-C-T p.Ser51Ser synonymous ADAMTS13 1 83020 1.20453E-5 41510 0 3.97687E-6
9-136288273-G-C p.Gly53Ala missense ADAMTS13 1 83006 1.20473E-5 41503 0 NA
9-136289422-TCTCCCTCTCCCC-T c.173-18_173-7delCTCCCTCTCCCC splice_region ADAMTS13 1 80980 1.23487E-5 40490 0 1.68144E-5
9-136289434-C-A c.173-7C>A splice_region ADAMTS13 4 81360 4.91642E-5 40680 0 1.91168E-4
9-136289443-C-T p.Arg59Cys missense+splice_region ADAMTS13 36 81614 4.41101E-4 40807 0 6.37674E-4
9-136289444-G-A p.Arg59His missense ADAMTS13 3 81622 3.67548E-5 40811 0 3.34952E-5
9-136289446-C-A p.Pro60Thr missense ADAMTS13 1 81796 1.22255E-5 40898 0 NA
9-136289447-C-T p.Pro60Leu missense ADAMTS13 1 81842 1.22187E-5 40921 0 3.18593E-5
9-136289450-C-G p.Pro61Arg missense ADAMTS13 1 81930 1.22055E-5 40965 0 4.00221E-6
9-136289463-CCAGAGGCAGAGG-C p.Gln70_Arg73del disruptive_inframe_deletion ADAMTS13 2 82258 2.43137E-5 41129 0 5.02302E-5
9-136289463-CCAGAGG-C p.Gln72_Arg73del disruptive_inframe_deletion ADAMTS13 2 82244 2.43179E-5 41122 0 2.79978E-5
9-136289463-C-CCAGAGG p.Gln72_Arg73dup disruptive_inframe_insertion ADAMTS13 5 82258 6.07844E-5 41129 0 5.19958E-5
9-136289463-C-CCAGAGGCAGAGG p.Gln70_Arg73dup disruptive_inframe_insertion ADAMTS13 1 82258 1.21569E-5 41129 0 8.3717E-6
9-136289466-G-A p.Gln66Gln synonymous ADAMTS13 1 82338 1.21451E-5 41169 0 NA
9-136289492-C-G p.Ala75Gly missense ADAMTS13 5 82370 6.07017E-5 41185 0 8.33792E-6
9-136289494-G-T p.Ala76Ser missense ADAMTS13 3 82402 3.64069E-5 41201 0 3.99195E-6
9-136289499-C-T p.Gly77Gly synonymous ADAMTS13 2 82432 2.42624E-5 41216 0 6.37552E-5
9-136289500-G-A p.Gly78Ser missense ADAMTS13 1 82506 1.21203E-5 41253 0 1.99418E-5
9-136289529-C-T p.Ala87Ala synonymous ADAMTS13 2 82842 2.41423E-5 41421 0 5.05051E-4
9-136289538-C-A p.Pro90Pro synonymous ADAMTS13 2 82918 2.41202E-5 41459 0 NA
9-136289540-A-G p.Asp91Gly missense ADAMTS13 4 82892 4.82556E-5 41446 0 3.19101E-5
9-136289552-C-T p.Ala95Val missense ADAMTS13 2 82924 2.41185E-5 41462 0 2.5194E-5
9-136289558-A-G p.Gln97Arg missense ADAMTS13 1 82934 1.20578E-5 41467 0 3.18918E-5
9-136289573-G-A p.Arg102His missense ADAMTS13 6 82872 7.24008E-5 41436 0 6.37755E-5
9-136289584-AC-A p.Asn107fs frameshift ADAMTS13 1 82804 1.20767E-5 41402 0 NA
9-136289590-CTCAACA-C p.Tyr103_Val104del disruptive_inframe_deletion ADAMTS13 1 82796 1.20779E-5 41398 0 NA
9-136289598-C-T p.Ile110Ile splice_region+synonymous ADAMTS13 11 82708 1.32998E-4 41354 0 0.00151668
9-136289599-G-A c.330+1G>A splice_donor ADAMTS13 2 82672 2.4192E-5 41336 0 1.02155E-5
9-136289600-T-C c.330+2T>C splice_donor ADAMTS13 1 82664 1.20972E-5 41332 0 NA
9-136289603-G-A c.330+5G>A splice_region ADAMTS13 1 82634 1.21016E-5 41317 0 NA
9-136289606-C-T c.330+8C>T splice_region ADAMTS13 3 82558 3.63381E-5 41279 0 3.30171E-5
9-136290646-CAG-C c.331-2_331-1delAG splice_acceptor ADAMTS13 1 82106 1.21794E-5 41053 0 4.0333E-6
9-136290649-G-A p.Gly111Arg missense+splice_region ADAMTS13 3 82202 3.64955E-5 41101 0 NA
9-136290650-G-A p.Gly111Glu missense+splice_region ADAMTS13 2 82198 2.43315E-5 41099 0 NA
9-136290652-G-T p.Ala112Ser missense ADAMTS13 1 82218 1.21628E-5 41109 0 1.60988E-5
9-136290653-C-G p.Ala112Gly missense ADAMTS13 3 82208 3.64928E-5 41104 0 NA
9-136290658-C-G p.Leu114Val missense ADAMTS13 1 82270 1.21551E-5 41135 0 4.0131E-6
9-136290659-T-G p.Leu114Arg missense ADAMTS13 1 82282 1.21533E-5 41141 0 NA
9-136290664-C-T p.Arg116Trp missense ADAMTS13 2 82344 2.42884E-5 41172 0 2.80764E-5
9-136290665-G-A p.Arg116Gln missense ADAMTS13 2 82352 2.4286E-5 41176 0 4.53022E-5
9-136290666-G-T p.Arg116Arg synonymous ADAMTS13 1 82378 1.21392E-5 41189 0 6.25E-4
9-136290669-C-T p.Asp117Asp synonymous ADAMTS13 1 82404 1.21353E-5 41202 0 2.68423E-5
9-136290671-C-T p.Pro118Leu missense ADAMTS13 4 82406 4.85402E-5 41203 0 4.45482E-5
9-136290672-G-A p.Pro118Pro synonymous ADAMTS13 5293 82292 0.0643197 41146 186 0.0626658
9-136290675-C-T p.Ser119Ser synonymous ADAMTS13 414 82402 0.00502415 41201 4 0.015121
9-136290678-G-A p.Leu120Leu synonymous ADAMTS13 1 82484 1.21236E-5 41242 0 8.78472E-6
9-136290687-G-A p.Gln123Gln synonymous ADAMTS13 1 82556 1.2113E-5 41278 0 NA
9-136290691-C-T p.Arg125Trp missense ADAMTS13 3 82558 3.63381E-5 41279 0 3.18573E-5
9-136290691-C-A p.Arg125Arg synonymous ADAMTS13 3 82558 3.63381E-5 41279 0 5.24833E-5
9-136290729-T-C p.Pro137Pro synonymous ADAMTS13 2 82462 2.42536E-5 41231 0 NA
9-136291053-C-T c.415-5C>T splice_region ADAMTS13 29 82624 3.50988E-4 41312 0 1.91168E-4
9-136291054-G-A c.415-4G>A splice_region ADAMTS13 2 82632 2.42037E-5 41316 0 8.32265E-6
9-136291054-G-T c.415-4G>T splice_region ADAMTS13 1 82632 1.21018E-5 41316 0 8.32265E-6
9-136291063-C-T p.Ala140Ala synonymous ADAMTS13 44642 81404 0.548401 40702 12423 0.634945
9-136291070-A-G p.Ile143Val missense ADAMTS13 17 82912 2.05037E-4 41456 0 3.18898E-4
9-136291079-A-T p.Asn146Tyr missense ADAMTS13 3 82994 3.61472E-5 41497 0 3.98096E-6
9-136291081-C-T p.Asn146Asn synonymous ADAMTS13 2 83000 2.40964E-5 41500 0 NA
9-136291089-C-T p.Ser149Leu missense ADAMTS13 2 83082 2.40726E-5 41541 0 8.26487E-6
9-136291090-G-A p.Ser149Ser synonymous ADAMTS13 2 83074 2.40749E-5 41537 0 3.18634E-5
9-136291093-C-T p.Ser150Ser synonymous ADAMTS13 3 83092 3.61046E-5 41546 0 NA
9-136291102-C-T p.Ser153Ser synonymous ADAMTS13 3 83118 3.60933E-5 41559 0 9.55536E-5
9-136291103-G-A p.Val154Ile missense ADAMTS13 2 83132 2.40581E-5 41566 0 3.30529E-5
9-136291118-C-T p.Gln159* stop_gained ADAMTS13 1 83162 1.20247E-5 41581 0 NA
9-136291138-C-T p.Asp165Asp synonymous ADAMTS13 3 83168 3.60716E-5 41584 0 2.4786E-5
9-136291139-G-A p.Asp166Asn missense ADAMTS13 4 83180 4.80885E-5 41590 0 2.78549E-5
9-136291143-C-T p.Thr167Met missense ADAMTS13 155 83174 0.00186356 41587 1 0.00417437
9-136291144-G-A p.Thr167Thr synonymous ADAMTS13 4 83170 4.80943E-5 41585 0 7.4358E-5
9-136291165-G-A p.Leu174Leu synonymous ADAMTS13 1 83164 1.20244E-5 41582 0 NA
9-136291187-C-T c.539+5C>T splice_region ADAMTS13 1 83114 1.20317E-5 41557 0 8.26323E-6
9-136291188-C-T c.539+6C>T splice_region ADAMTS13 5 83110 6.01612E-5 41555 0 6.37471E-5
9-136291189-G-A c.539+7G>A splice_region ADAMTS13 28 83110 3.36903E-4 41555 1 1.7525E-4
9-136291315-C-T c.540-4C>T splice_region ADAMTS13 1 83158 1.20253E-5 41579 0 3.1841E-5
9-136291316-G-A c.540-3G>A splice_region ADAMTS13 4 83154 4.81035E-5 41577 0 9.55414E-5
9-136291319-G-T p.Arg180Ser missense+splice_region ADAMTS13 1 83166 1.20241E-5 41583 0 NA
9-136291325-C-T p.Asp182Asp synonymous ADAMTS13 11 83150 1.32291E-4 41575 0 7.24453E-4
9-136291338-G-C p.Asp187His missense ADAMTS13 33 83158 3.96835E-4 41579 0 5.03525E-4
9-136291347-C-T p.Arg190Trp missense ADAMTS13 1 83146 1.2027E-5 41573 0 3.18492E-5
9-136291348-G-A p.Arg190Gln missense ADAMTS13 8 83134 9.62302E-5 41567 0 0.00125
9-136291356-C-T p.Arg193Trp missense ADAMTS13 4 83096 4.81371E-5 41548 0 7.97461E-6
9-136291357-G-A p.Arg193Gln missense ADAMTS13 3 83100 3.61011E-5 41550 0 3.9873E-6
9-136291361-C-T p.Gly194Gly synonymous ADAMTS13 5484 82960 0.0661041 41480 200 0.0609265
9-136291362-G-A p.Val195Ile missense ADAMTS13 26 83056 3.13042E-4 41528 0 5.03525E-4
9-136291364-C-T p.Val195Val synonymous ADAMTS13 1 83062 1.20392E-5 41531 0 3.98804E-6
9-136291366-C-T p.Thr196Ile missense ADAMTS13 3 83074 3.61124E-5 41537 0 3.18492E-5
9-136291376-C-T p.Gly199Gly synonymous ADAMTS13 7 83056 8.42805E-5 41528 0 4.13757E-5
9-136291383-T-C p.Cys202Arg missense ADAMTS13 2 83076 2.40743E-5 41538 0 NA
9-136291384-G-A p.Cys202Tyr missense ADAMTS13 1 83066 1.20386E-5 41533 0 NA
9-136291392-A-C p.Thr205Pro missense ADAMTS13 1 83060 1.20395E-5 41530 0 3.18512E-5
9-136291400-C-G p.Ser207Arg missense ADAMTS13 1 83070 1.2038E-5 41535 0 8.28803E-6
9-136291404-C-T p.Leu209Phe missense ADAMTS13 1 83072 1.20378E-5 41536 0 NA
9-136291412-C-T p.Thr211Thr synonymous ADAMTS13 1 83062 1.20392E-5 41531 0 2.49021E-5
9-136291415-G-A p.Glu212Glu synonymous ADAMTS13 1 83050 1.20409E-5 41525 0 4.05367E-6
9-136291427-C-T p.Phe216Phe synonymous ADAMTS13 1 83004 1.20476E-5 41502 0 3.1841E-5
9-136291428-G-A p.Asp217Asn missense ADAMTS13 1 82990 1.20496E-5 41495 0 3.18532E-5
9-136291431-C-T p.Leu218Leu synonymous ADAMTS13 2 82998 2.4097E-5 41499 0 8.33306E-6
9-136291461-C-T p.His228Tyr missense ADAMTS13 1 82602 1.21062E-5 41301 0 NA
9-136291469-T-G c.686+4T>G splice_region ADAMTS13 5239 81942 0.0639355 40971 142 0.0612546
9-136293749-A-C c.687-5A>C splice_region ADAMTS13 1 31038 3.22186E-5 15519 0 NA
9-136293770-G-T p.Asp235Tyr missense ADAMTS13 1 32968 3.03324E-5 16484 0 1.50953E-5
9-136293772-C-A p.Asp235Glu missense ADAMTS13 1 33036 3.027E-5 16518 0 NA
9-136293777-C-T p.Ala237Val missense ADAMTS13 1 33042 3.02645E-5 16521 0 NA
9-136293784-C-G p.Gly239Gly synonymous ADAMTS13 3 33242 9.02473E-5 16621 1 NA
9-136293787-C-T p.Ser240Ser synonymous ADAMTS13 1 33268 3.00589E-5 16634 0 3.29424E-5
9-136293802-C-T p.Ser245Ser synonymous ADAMTS13 1 33782 2.96016E-5 16891 0 1.55039E-5
9-136293805-A-C p.Gly246Gly synonymous ADAMTS13 1 33720 2.9656E-5 16860 0 NA
9-136293823-C-A p.Asp252Glu missense ADAMTS13 1 33718 2.96577E-5 16859 0 NA
9-136293824-G-A p.Gly253Ser missense ADAMTS13 2 33410 5.98623E-5 16705 0 6.56642E-5
9-136293829-C-T c.-542C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 33470 2.98775E-5 16735 0 1.8162E-5
9-136293842-G-A p.Gly259Ser missense ADAMTS13 1 33152 3.01641E-5 16576 0 8.68478E-5
9-136293845-C-T p.Leu260Phe missense ADAMTS13 1 33230 3.00933E-5 16615 0 NA
9-136293848-G-A p.Ala261Thr missense ADAMTS13 1 33398 2.99419E-5 16699 0 NA
9-136293855-C-T p.Ser263Phe missense ADAMTS13 2 33328 6.00096E-5 16664 0 NA
9-136293875-C-G p.Leu270Val missense ADAMTS13 1 33012 3.0292E-5 16506 0 3.24591E-5
9-136293877-GC-TA p.LeuLeu270LeuMet missense ADAMTS13 2 33030 6.0551E-5 16515 0 NA
9-136293883-C-T p.Ser272Ser synonymous ADAMTS13 1 33028 3.02773E-5 16514 0 5.34321E-5
9-136293894-A-G c.824+3A>G splice_region ADAMTS13 1 32224 3.10328E-5 16112 0 NA
9-136293896-C-T c.824+5C>T splice_region ADAMTS13 1 32152 3.11023E-5 16076 0 2.33809E-5
9-136293896-C-G c.824+5C>G splice_region ADAMTS13 1 32152 3.11023E-5 16076 0 NA
9-136294813-CA-C c.825-6delA splice_region ADAMTS13 1 63778 1.56794E-5 31889 0 6.38529E-5
9-136294823-C-G p.Pro276Pro synonymous ADAMTS13 1 64920 1.54036E-5 32460 0 NA
9-136294826-C-T p.Val277Val synonymous ADAMTS13 5 65304 7.6565E-5 32652 0 0.0012837
9-136294835-GC-G p.Pro281fs frameshift ADAMTS13 1 65798 1.5198E-5 32899 0 2.55885E-4
9-136294835-G-A p.Ser280Ser synonymous ADAMTS13 1 65798 1.5198E-5 32899 0 7.01508E-6
9-136294841-C-G c.-458C>G 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 66604 1.50141E-5 33302 0 0.00128205
9-136294842-C-A p.Pro283Thr missense ADAMTS13 2 66674 2.99967E-5 33337 0 NA
9-136294842-C-T p.Pro283Ser missense ADAMTS13 1 66674 1.49983E-5 33337 0 NA
9-136294853-C-T p.Ala286Ala synonymous ADAMTS13 2 67204 2.97601E-5 33602 0 1.14561E-4
9-136294859-C-G p.His288Gln missense ADAMTS13 1 67684 1.47745E-5 33842 0 NA
9-136294860-C-T p.Leu289Phe missense ADAMTS13 41 67808 6.04648E-4 33904 0 0.00108488
9-136294864-G-A p.Cys290Tyr missense ADAMTS13 1 67866 1.47349E-5 33933 0 7.05577E-6
9-136294869-G-C p.Gly292Arg missense ADAMTS13 4 68196 5.86545E-5 34098 0 3.19305E-5
9-136294871-C-G p.Gly292Gly synonymous ADAMTS13 1 68388 1.46224E-5 34194 0 NA
9-136294872-A-C p.Arg293Arg synonymous ADAMTS13 2 68332 2.92689E-5 34166 0 NA
9-136294874-G-A p.Arg293Arg synonymous ADAMTS13 2 68754 2.90892E-5 34377 0 3.1953E-5
9-136294876-GC-AA p.Ser294Lys missense ADAMTS13 2 68962 2.90015E-5 34481 0 NA
9-136294886-T-C p.Leu297Leu synonymous ADAMTS13 4 70096 5.70646E-5 35048 0 4.2272E-5
9-136294889-T-C p.Gly298Gly synonymous ADAMTS13 2226 70314 0.031658 35157 28 0.0394063
9-136294895-C-A p.Ser300Arg missense ADAMTS13 4 70994 5.63428E-5 35497 0 NA
9-136294905-G-T p.Ala304Ser missense ADAMTS13 1 72502 1.37927E-5 36251 0 NA
9-136294914-G-A p.Gly307Arg missense ADAMTS13 6 73240 8.19224E-5 36620 0 6.25782E-4
9-136294914-G-C p.Gly307Arg missense ADAMTS13 2 73240 2.73075E-5 36620 0 7.03631E-6
9-136294916-G-A p.Gly307Gly synonymous ADAMTS13 2 73426 2.72383E-5 36713 0 NA
9-136294920-C-T p.Arg309Cys missense ADAMTS13 1 73482 1.36088E-5 36741 0 5.8418E-5
9-136294923-G-A p.Gly310Arg missense ADAMTS13 3 73886 4.06031E-5 36943 0 1.40578E-5
9-136294926-C-T p.Pro311Ser missense ADAMTS13 1 74106 1.34942E-5 37053 0 NA
9-136294933-C-T p.Thr313Ile missense ADAMTS13 1 75516 1.32422E-5 37758 0 3.19081E-5
9-136294934-T-C p.Thr313Thr synonymous ADAMTS13 1 75582 1.32307E-5 37791 0 NA
9-136294939-T-G p.Val315Gly missense ADAMTS13 1 76086 1.3143E-5 38043 0 NA
9-136294941-C-G p.Pro316Ala missense ADAMTS13 2 76264 2.62247E-5 38132 0 NA
9-136294942-C-T p.Pro316Leu missense ADAMTS13 2 76350 2.61952E-5 38175 0 NA
9-136294951-A-G p.Lys319Arg missense ADAMTS13 2 77126 2.59316E-5 38563 0 NA
9-136294964-C-T p.Phe323Phe synonymous ADAMTS13 1 77686 1.28723E-5 38843 0 NA
9-136294974-C-G p.Pro327Ala missense ADAMTS13 1 78006 1.28195E-5 39003 0 NA
9-136294979-C-T p.Ser328Ser synonymous ADAMTS13 1 78110 1.28025E-5 39055 0 NA
9-136294982-G-T c.-317G>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 19 78082 2.43334E-4 39041 0 1.74723E-4
9-136294982-G-A c.-317G>A 5_prime_UTR_premature_start_codon_gain ADAMTS13 3 78082 3.84211E-5 39041 0 NA
9-136294987-C-T p.Pro331Leu missense ADAMTS13 2 78156 2.55898E-5 39078 0 1.16904E-4
9-136294989-C-G p.Leu332Val missense ADAMTS13 3 78178 3.8374E-5 39089 0 NA
9-136294996-G-A p.Arg334His missense ADAMTS13 3 78148 3.83887E-5 39074 0 NA
9-136295001-G-T p.Ala336Ser missense ADAMTS13 1 78112 1.28021E-5 39056 0 NA
9-136295003-C-T p.Ala336Ala synonymous ADAMTS13 6 78158 7.67676E-5 39079 0 7.72155E-4
9-136295007-T-C p.Ser338Pro missense ADAMTS13 1 78142 1.27972E-5 39071 0 NA
9-136295008-C-T p.Ser338Phe missense ADAMTS13 4 78154 5.1181E-5 39077 0 2.11897E-5
9-136295010-C-T p.Arg339Trp missense ADAMTS13 1 78142 1.27972E-5 39071 0 NA
9-136295011-G-T p.Arg339Leu missense ADAMTS13 1 78116 1.28015E-5 39058 0 NA
9-136295012-G-T c.-287G>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 2 78132 2.55977E-5 39066 0 5.99592E-5
9-136295014-G-A p.Cys340Tyr missense ADAMTS13 3 78134 3.83956E-5 39067 0 6.03865E-5
9-136295018-A-G p.Thr341Thr synonymous ADAMTS13 1 78070 1.2809E-5 39035 0 NA
9-136295026-A-ACTGAGCCGGGC c.825-19_825-9dupGAGCCGGGCCT splice_region ADAMTS13 6 78090 7.68344E-5 39045 0 7.07734E-5
9-136295026-A-C p.Asp344Ala missense ADAMTS13 4 78090 5.12229E-5 39045 0 NA
9-136295071-G-A p.Ala279Ala synonymous ADAMTS13 1 77046 1.29793E-5 38523 0 7.09602E-6
9-136295080-G-T c.-219G>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 76988 1.2989E-5 38494 0 NA
9-136295084-G-T p.Asp284Tyr missense ADAMTS13 1 76910 1.30022E-5 38455 0 1.38435E-5
9-136295090-C-G p.Pro286Ala missense ADAMTS13 1 77108 1.29688E-5 38554 0 NA
9-136295104-C-T c.-195C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 2 77044 2.59592E-5 38522 0 2.43932E-4
9-136295106-G-C p.Gly291Ala missense ADAMTS13 2 76968 2.59848E-5 38484 0 6.37511E-5
9-136295111-G-A p.Ala293Thr missense ADAMTS13 1 76552 1.3063E-5 38276 0 1.19717E-5
9-136295113-G-C p.Ala293Ala synonymous ADAMTS13 2 76658 2.60899E-5 38329 0 NA
9-136295116-G-C p.Gly294Gly synonymous ADAMTS13 1 76396 1.30897E-5 38198 0 5.82248E-6
9-136295121-C-A p.Pro296Gln missense ADAMTS13 1 76384 1.30917E-5 38192 0 4.54298E-5
9-136295122-G-A p.Pro296Pro synonymous ADAMTS13 4 76266 5.2448E-5 38133 0 2.6434E-4
9-136295124-C-T p.Pro297Leu missense ADAMTS13 1 76358 1.30962E-5 38179 0 4.16458E-5
9-136295131-G-A p.Ala299Ala synonymous ADAMTS13 1 76490 1.30736E-5 38245 0 1.0037E-5
9-136295136-C-G p.Pro301Arg missense ADAMTS13 1 76822 1.30171E-5 38411 0 1.14325E-4
9-136295137-T-C p.Pro301Pro synonymous ADAMTS13 2 76840 2.60281E-5 38420 0 5.546E-5
9-136295139-G-C p.Gly302Ala missense ADAMTS13 1 76788 1.30229E-5 38394 0 NA
9-136295145-A-G p.Tyr304Cys missense ADAMTS13 1 77042 1.29799E-5 38521 0 3.18898E-5
9-136295146-C-T c.825-6C>T splice_region ADAMTS13 1 77052 1.29782E-5 38526 0 NA
9-136295153-G-A p.Ala276Thr missense+splice_region ADAMTS13 4 76952 5.19805E-5 38476 0 1.276E-4
9-136295168-C-T p.Arg312Cys missense ADAMTS13 1 76442 1.30818E-5 38221 0 4.55672E-6
9-136295169-G-A p.Arg312His missense ADAMTS13 1 76280 1.31096E-5 38140 0 NA
9-136295170-C-T p.Arg312Arg synonymous ADAMTS13 562 76132 0.00738192 38066 8 0.0151476
9-136295179-C-T c.-120C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 8 75330 1.06199E-4 37665 0 1.5952E-4
9-136295180-G-C p.Gly316Arg missense ADAMTS13 1 75022 1.33294E-5 37511 0 NA
9-136295181-G-A p.Gly316Asp missense ADAMTS13 1 74848 1.33604E-5 37424 0 NA
9-136295182-C-T p.Gly316Gly synonymous ADAMTS13 1 74760 1.33761E-5 37380 0 NA
9-136295195-G-C p.Ala321Pro missense ADAMTS13 2 72952 2.74153E-5 36476 0 1.30763E-4
9-136295198-T-G p.Cys322Gly missense ADAMTS13 1 72728 1.37499E-5 36364 0 6.3743E-5
9-136295203-C-T p.Thr323Thr synonymous ADAMTS13 2 72078 2.77477E-5 36039 0 3.18695E-5
9-136295206-C-T c.-93C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 71536 1.3979E-5 35768 0 8.1473E-5
9-136295215-G-C p.Glu327Asp missense ADAMTS13 1 69876 1.43111E-5 34938 0 3.18593E-5
9-136295228-C-T c.-71C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 67664 1.47789E-5 33832 0 2.46597E-5
9-136295232-C-T c.-67C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 5960 65962 0.0903551 32981 204 0.139998
9-136295282-C-T c.-17C>T 5_prime_UTR_premature_start_codon_gain ADAMTS13 19 55238 3.43966E-4 27619 0 6.25E-4
9-136295295-G-A c.-4G>A 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 53210 1.87935E-5 26605 0 NA
9-136295299-A-C p.Met1? initiator_codon ADAMTS13 1 52668 1.89869E-5 26334 0 NA
9-136295306-GA-G c.*271+6delA splice_region ADAMTS13 2 51828 3.85892E-5 25914 0 NA
9-136295306-G-C c.*271+5G>C splice_region ADAMTS13 1 51828 1.92946E-5 25914 0 NA
9-136297719-A-T p.Gln333Leu missense ADAMTS13 1 80736 1.2386E-5 40368 0 NA
9-136297736-A-G p.Thr339Ala missense ADAMTS13 1 81124 1.23268E-5 40562 0 NA
9-136297737-C-G p.Thr339Arg missense ADAMTS13 101 81128 0.00124495 40564 3 0.00625
9-136297741-C-T p.Thr240Ile missense ADAMTS13 2 81192 2.4633E-5 40596 0 3.18431E-5
9-136297743-C-T p.Pro341Leu missense ADAMTS13 299 81182 0.00368308 40591 5 0.00789658
9-136297766-C-A p.Arg349Ser missense ADAMTS13 1 81432 1.22802E-5 40716 0 0.00255102
9-136297774-C-T p.Ser251Leu missense ADAMTS13 2 81428 2.45616E-5 40714 0 4.48109E-5
9-136297796-G-A p.Glu359Lys missense ADAMTS13 1 81386 1.22871E-5 40693 0 NA
9-136297804-C-T p.Ala261Val missense ADAMTS13 2 81350 2.45851E-5 40675 0 3.1839E-5
9-136297805-G-A p.Val362Met missense ADAMTS13 7 81354 8.60437E-5 40677 0 1.80294E-4
9-136297809-A-G p.Glu363Gly missense ADAMTS13 1 81320 1.22971E-5 40660 0 NA
9-136297819-A-G c.1092+6A>G splice_region ADAMTS13 2 81236 2.46196E-5 40618 0 NA
9-136297820-G-A c.1092+7G>A splice_region ADAMTS13 1 81248 1.2308E-5 40624 0 NA
9-136298503-C-T p.Ala266Val missense ADAMTS13 1 81136 1.2325E-5 40568 0 3.19857E-5
9-136298509-G-C p.Lys368Asn missense ADAMTS13 8 81496 9.81643E-5 40748 0 1.91828E-4
9-136298511-G-A p.Gly369Asp missense ADAMTS13 1 81490 1.22714E-5 40745 0 NA
9-136298513-C-T p.Arg370Cys missense ADAMTS13 4 81550 4.90497E-5 40775 0 2.00239E-5
9-136298514-G-A p.Arg370His missense ADAMTS13 9 81566 1.1034E-4 40783 0 2.55787E-4
9-136298524-C-T p.Pro273Leu missense ADAMTS13 1 82088 1.2182E-5 41044 0 NA
9-136298528-G-T p.Val375Leu missense ADAMTS13 2 82150 2.43457E-5 41075 0 1.99832E-5
9-136298542-C-T p.Pro379Pro synonymous ADAMTS13 11 82448 1.33417E-4 41224 0 6.71055E-4
9-136298543-A-G p.Ile380Val missense ADAMTS13 1 82434 1.21309E-5 41217 0 8.34307E-6
9-136298551-A-G p.Ala382Ala synonymous ADAMTS13 1 82540 1.21153E-5 41270 0 NA
9-136298555-C-T p.His384Tyr missense ADAMTS13 1 82578 1.21098E-5 41289 0 1.66639E-5
9-136298561-C-T p.Arg386Cys missense ADAMTS13 20 82558 2.42254E-4 41279 0 0.00100705
9-136298561-C-A p.Arg386Ser missense ADAMTS13 5 82562 6.05605E-5 41281 0 6.39468E-5
9-136298562-G-A p.Arg386His missense ADAMTS13 39 82618 4.72052E-4 41309 0 0.00503525
9-136298593-C-G p.Cys396Trp missense ADAMTS13 1 82890 1.20642E-5 41445 0 NA
9-136298597-C-T p.Arg398Cys missense ADAMTS13 3 82908 3.61847E-5 41454 0 1.66281E-5
9-136298598-G-A p.Arg398His missense ADAMTS13 1 82916 1.20604E-5 41458 0 3.1953E-5
9-136298605-C-T p.Cys400Cys synonymous ADAMTS13 74 82920 8.92426E-4 41460 0 0.00151057
9-136298606-G-A p.Gly401Arg missense ADAMTS13 1 82912 1.2061E-5 41456 0 8.31034E-6
9-136298613-G-A p.Gly403Asp missense ADAMTS13 1 82970 1.20525E-5 41485 0 NA
9-136298615-G-A p.Val404Met missense ADAMTS13 1 82960 1.2054E-5 41480 0 NA
9-136298620-C-CA p.Thr406fs frameshift ADAMTS13 1 82946 1.2056E-5 41473 0 NA
9-136298620-C-T p.Val405Val synonymous ADAMTS13 1 82946 1.2056E-5 41473 0 3.32138E-5
9-136298622-C-T p.Thr406Ile missense ADAMTS13 2 82962 2.41074E-5 41481 0 3.99205E-6
9-136298626-G-A p.Arg407Arg synonymous ADAMTS13 2 82984 2.4101E-5 41492 0 NA
9-136298627-A-T p.Arg408Trp missense ADAMTS13 1 82962 1.20537E-5 41481 0 3.99109E-6
9-136298630-C-T p.Arg409Trp missense ADAMTS13 1 82952 1.20552E-5 41476 0 NA
9-136298630-C-A p.Arg409Arg synonymous ADAMTS13 1 82952 1.20552E-5 41476 0 NA
9-136298654-C-A c.1244+5C>A splice_region ADAMTS13 1 82972 1.20523E-5 41486 0 8.29655E-6
9-136298654-C-T c.1244+5C>T splice_region ADAMTS13 4 82972 4.8209E-5 41486 0 1.59775E-5
9-136298655-G-A c.1244+6G>A splice_region ADAMTS13 4 82954 4.82195E-5 41477 0 3.59505E-5
9-136298655-G-T c.1244+6G>T splice_region ADAMTS13 1 82954 1.20549E-5 41477 0 3.9945E-6
9-136298753-AT-A c.1245-7delT splice_region ADAMTS13 1 83108 1.20325E-5 41554 0 8.27732E-6
9-136298753-A-G c.1245-8A>G splice_region ADAMTS13 2 83108 2.40651E-5 41554 0 3.98324E-5
9-136298758-C-T c.1245-3C>T splice_region ADAMTS13 104 83110 0.00125135 41555 0 0.00112583
9-136298770-T-TG p.Arg421fs frameshift ADAMTS13 2 83118 2.40622E-5 41559 0 8.28377E-6
9-136298777-C-T p.Arg421Cys missense ADAMTS13 47 83064 5.65829E-4 41532 0 0.005
9-136298778-G-A p.Arg421His missense ADAMTS13 4 83072 4.8151E-5 41536 0 1.99132E-5
9-136298797-C-T p.Asp427Asp synonymous ADAMTS13 1 82926 1.20589E-5 41463 0 7.9701E-6
9-136298806-C-T p.Ala430Ala synonymous ADAMTS13 10 82740 1.20861E-4 41370 0 4.147E-4
9-136298807-G-A p.Glu431Lys missense ADAMTS13 1 82712 1.20901E-5 41356 0 1.65829E-5
9-136298829-G-A c.1308+5G>A splice_region ADAMTS13 1 81796 1.22255E-5 40898 0 NA
9-136301954-C-T p.Cys438Cys synonymous ADAMTS13 4 79314 5.04325E-5 39657 0 1.26422E-4
9-136301962-C-G p.Thr441Ser missense ADAMTS13 1 79940 1.25094E-5 39970 0 4.8348E-6
9-136301967-C-A p.Leu443Met missense ADAMTS13 10 80108 1.24831E-4 40054 0 1.28361E-4
9-136301976-A-G p.Met446Val missense ADAMTS13 4 80506 4.96857E-5 40253 1 5.18135E-5
9-136301980-C-T p.Ser447Leu missense ADAMTS13 1 80564 1.24125E-5 40282 0 5.15437E-5
9-136301981-G-A p.Ser447Ser synonymous ADAMTS13 2 80616 2.4809E-5 40308 0 0.00203252
9-136301981-GC-AG p.SerGln447SerGlu missense ADAMTS13 1 80616 1.24045E-5 40308 0 NA
9-136301982-C-G p.Gln448Glu missense ADAMTS13 27882 80006 0.348499 40003 5360 0.453015
9-136301990-C-T p.Cys450Cys synonymous ADAMTS13 2 80670 2.47924E-5 40335 0 6.39509E-5
9-136301991-G-A p.Ala451Thr missense ADAMTS13 1 80726 1.23876E-5 40363 0 4.06124E-5
9-136301994-A-G p.Arg452Gly missense ADAMTS13 5 80818 6.18674E-5 40409 0 4.90023E-6
9-136301999-C-T p.Thr453Thr synonymous ADAMTS13 50 80810 6.18735E-4 40405 0 7.87141E-4
9-136302002-C-T p.Asp454Asp synonymous ADAMTS13 1 80808 1.2375E-5 40404 0 4.1738E-5
9-136302003-G-A p.Gly455Ser missense ADAMTS13 10 80814 1.23741E-4 40407 0 9.58283E-5
9-136302003-G-C p.Gly455Arg missense ADAMTS13 6 80814 7.42446E-5 40407 0 4.12354E-5
9-136302003-G-T p.Gly455Cys missense ADAMTS13 1 80814 1.23741E-5 40407 0 NA
9-136302006-C-G p.Gln456Glu missense ADAMTS13 1 80830 1.23716E-5 40415 0 2.09056E-5
9-136302008-G-T p.Gln456His missense ADAMTS13 595 80804 0.0073635 40402 15 0.015167
9-136302010-C-T p.Pro457Leu missense ADAMTS13 82 80808 0.00101475 40404 0 0.00368437
9-136302011-G-A p.Pro457Pro synonymous ADAMTS13 3 80756 3.71489E-5 40378 0 2.10935E-5
9-136302014-G-A p.Leu458Leu synonymous ADAMTS13 1 80768 1.23811E-5 40384 0 NA
9-136302016-G-A p.Arg459His missense ADAMTS13 2 80690 2.47862E-5 40345 0 3.19101E-5
9-136302026-T-C p.Pro462Pro synonymous ADAMTS13 1 80732 1.23867E-5 40366 0 2.13074E-5
9-136302027-G-C p.Gly463Arg missense ADAMTS13 1 80724 1.23879E-5 40362 0 6.36375E-5
9-136302029-C-T p.Gly463Gly synonymous ADAMTS13 15 80694 1.85887E-4 40347 0 0.00101833
9-136302030-G-A p.Gly464Ser missense ADAMTS13 6 80684 7.43642E-5 40342 0 3.60276E-4
9-136302031-GC-AT p.Gly464Asp missense ADAMTS13 1 80696 1.23922E-5 40348 0 NA
9-136302043-A-G p.Tyr468Cys missense ADAMTS13 2 80710 2.47801E-5 40355 0 NA
9-136302052-G-GGACTACATGGCACCCTACAGTACAGGATCAAGA p.Gly471_Ala472insThrThrTrpHisProThrValGlnAspGlnAsp disruptive_inframe_insertion ADAMTS13 2 80622 2.48071E-5 40311 1 NA
9-136302063-C-T p.Pro475Ser missense ADAMTS13 145 80464 0.00180205 40232 0 0.00733293
9-136302066-C-T p.His476Tyr missense ADAMTS13 1 80416 1.24353E-5 40208 0 NA
9-136302863-T-TC c.1436-6_1436-5insC splice_region ADAMTS13 4 82940 4.82276E-5 41470 0 2.22987E-4
9-136302879-G-C p.Leu482Leu synonymous ADAMTS13 4 83058 4.81591E-5 41529 0 3.98537E-6
9-136302889-A-G p.Met486Val missense ADAMTS13 1 83092 1.20349E-5 41546 0 NA
9-136302896-G-A p.Arg488Gln missense ADAMTS13 5 83108 6.01627E-5 41554 0 5.17891E-5
9-136302906-C-T p.Gly491Gly synonymous ADAMTS13 8 83146 9.62163E-5 41573 0 3.18471E-5
9-136302907-G-A p.Glu492Lys missense ADAMTS13 2 83144 2.40547E-5 41572 0 3.1837E-5
9-136302910-A-C p.Ser493Arg missense ADAMTS13 5 83132 6.01453E-5 41566 0 4.97331E-5
9-136302912-C-T p.Ser493Ser synonymous ADAMTS13 3 83136 3.60855E-5 41568 0 9.55353E-5
9-136302919-A-G p.Met496Val missense ADAMTS13 5 83142 6.01381E-5 41571 0 4.14319E-5
9-136302925-C-T p.Arg498Cys missense ADAMTS13 1 83118 1.20311E-5 41559 0 4.14236E-5
9-136302932-A-C p.Asp500Ala missense ADAMTS13 30 83106 3.60985E-4 41553 0 3.5043E-4
9-136302939-C-G p.Phe502Leu missense ADAMTS13 1 83120 1.20308E-5 41560 0 NA
9-136302943-G-A p.Asp504Asn missense ADAMTS13 1 83100 1.20337E-5 41550 0 1.59354E-5
9-136302951-C-A p.Thr506Thr synonymous ADAMTS13 4 83068 4.81533E-5 41534 0 4.97108E-5
9-136302953-G-A p.Arg507Gln missense ADAMTS13 3 83066 3.61159E-5 41533 0 2.48546E-5
9-136302955-T-C p.Cys508Arg missense ADAMTS13 1 83058 1.20398E-5 41529 0 NA
9-136302968-G-A p.Gly512Asp missense ADAMTS13 1 83006 1.20473E-5 41503 0 9.55353E-5
9-136302971-C-G p.Pro513Arg missense ADAMTS13 1 83020 1.20453E-5 41510 0 NA
9-136302973-C-T p.Arg514Trp missense ADAMTS13 7 82972 8.43658E-5 41486 0 5.80094E-5
9-136302974-G-C p.Arg514Pro missense ADAMTS13 1 83024 1.20447E-5 41512 0 NA
9-136302976-G-A p.Glu515Lys missense ADAMTS13 1 83014 1.20462E-5 41507 0 3.98435E-6
9-136302981-C-T p.Asp516Asp synonymous ADAMTS13 1 83000 1.20482E-5 41500 0 1.31479E-4
9-136302982-G-A p.Gly517Arg missense ADAMTS13 2 83028 2.40883E-5 41514 0 2.486E-5
9-136302984-G-C p.Gly517Gly synonymous ADAMTS13 140 83030 0.00168614 41515 2 0.0121335
9-136303002-G-A p.Val523Val synonymous ADAMTS13 1 82978 1.20514E-5 41489 0 3.18814E-5
9-136303010-G-C p.Ser526Thr missense ADAMTS13 1 82878 1.20659E-5 41439 0 NA
9-136303023-C-T c.1584+6C>T splice_region ADAMTS13 3 82692 3.62792E-5 41346 0 5.81279E-5
9-136303024-G-C c.1584+7G>C splice_region ADAMTS13 2 82692 2.41861E-5 41346 0 1.6605E-5
9-136303024-G-A c.1584+7G>A splice_region ADAMTS13 1 82692 1.20931E-5 41346 0 6.25E-4
9-136303367-C-G p.Thr529Arg missense+splice_region ADAMTS13 2 83244 2.40258E-5 41622 0 3.18613E-5
9-136303368-A-G p.Thr529Thr splice_region+synonymous ADAMTS13 2 83250 2.4024E-5 41625 0 5.03525E-4
9-136303382-G-A p.Gly534Asp missense ADAMTS13 5 83272 6.00442E-5 41636 0 1.23324E-4
9-136303404-A-T p.Val541Val synonymous ADAMTS13 1 83266 1.20097E-5 41633 0 NA
9-136303412-G-A p.Arg544Lys missense ADAMTS13 3 83256 3.60334E-5 41628 0 NA
9-136303413-G-T p.Arg544Ser missense ADAMTS13 16 83254 1.92183E-4 41627 1 1.56937E-4
9-136303422-G-A p.Val547Val synonymous ADAMTS13 1 83260 1.20106E-5 41630 0 7.95684E-6
9-136303437-C-T p.Asn552Asn synonymous ADAMTS13 1 83248 1.20123E-5 41624 0 NA
9-136303451-C-T p.Pro557Leu missense ADAMTS13 1 83212 1.20175E-5 41606 0 7.96242E-6
9-136303453-C-T p.Arg558Trp missense ADAMTS13 5 83196 6.0099E-5 41598 0 5.03525E-4
9-136303454-G-A p.Arg558Gln missense ADAMTS13 1 83194 1.20201E-5 41597 0 1.1944E-5
9-136303462-T-C p.Ser561Pro missense ADAMTS13 2 83158 2.40506E-5 41579 0 1.59311E-5
9-136303466-T-A p.Phe562Tyr missense ADAMTS13 1 83124 1.20302E-5 41562 0 NA
9-136303467-C-G p.Phe562Leu missense ADAMTS13 1 83122 1.20305E-5 41561 0 NA
9-136303472-C-A p.Ala564Asp missense ADAMTS13 31 83084 3.73116E-4 41542 0 3.82434E-4
9-136303480-G-A p.Ala567Thr missense ADAMTS13 1 82984 1.20505E-5 41492 0 NA
9-136303482-G-A p.Ala567Ala synonymous ADAMTS13 1 82946 1.2056E-5 41473 0 3.18695E-5
9-136303492-C-T c.1705+6C>T splice_region ADAMTS13 4 82662 4.83898E-5 41331 0 1.07991E-4
9-136303493-G-A c.1705+7G>A splice_region ADAMTS13 129 82658 0.00156065 41329 4 0.00625
9-136303494-G-A c.1705+8G>A splice_region ADAMTS13 1 82604 1.2106E-5 41302 0 4.0E-6
9-136304488-A-G p.Glu569Glu splice_region+synonymous ADAMTS13 1 82984 1.20505E-5 41492 0 8.24063E-6
9-136304497-A-G p.Thr572Thr synonymous ADAMTS13 37883 82006 0.461954 41003 9042 0.54625
9-136304508-T-C p.Val576Ala missense ADAMTS13 2 83142 2.40552E-5 41571 0 NA
9-136304508-TTAC-T p.Thr577del disruptive_inframe_deletion ADAMTS13 1 83142 1.20276E-5 41571 0 NA
9-136304548-G-A p.Arg589Arg synonymous ADAMTS13 3 83134 3.60863E-5 41567 0 1.2738E-4
9-136304550-C-T p.Pro590Leu missense ADAMTS13 1 83136 1.20285E-5 41568 0 3.97636E-6
9-136304573-T-C c.1786+6T>C splice_region ADAMTS13 3 83010 3.61402E-5 41505 0 6.25E-4
9-136305458-C-T c.1787-7C>T splice_region ADAMTS13 188 83086 0.00226272 41543 1 0.00439574
9-136305459-C-T c.1787-6C>T splice_region ADAMTS13 1 83100 1.20337E-5 41550 0 3.18634E-5
9-136305460-G-A c.1787-5G>A splice_region ADAMTS13 3 83118 3.60933E-5 41559 0 1.27372E-4
9-136305466-G-A p.Ala596Ala splice_region+synonymous ADAMTS13 3 83158 3.60759E-5 41579 0 2.48201E-5
9-136305475-C-T p.Ile599Ile synonymous ADAMTS13 403 83170 0.0048455 41585 9 0.010679
9-136305476-G-A p.Gly600Arg missense ADAMTS13 1 83196 1.20198E-5 41598 0 3.18573E-5
9-136305479-G-A p.Gly601Arg missense ADAMTS13 3 83214 3.60516E-5 41607 0 8.27458E-6
9-136305482-C-T p.Arg602Cys missense ADAMTS13 2 83206 2.40367E-5 41603 0 9.55962E-5
9-136305483-G-A p.Arg602His missense ADAMTS13 2 83218 2.40333E-5 41609 0 3.98026E-6
9-136305488-G-A p.Val604Ile missense ADAMTS13 17 83224 2.04268E-4 41612 0 4.14092E-4
9-136305491-G-A p.Val605Met missense ADAMTS13 2 83218 2.40333E-5 41609 0 3.31044E-5
9-136305493-G-T p.Val605Val synonymous ADAMTS13 2 83218 2.40333E-5 41609 0 8.27746E-6
9-136305494-G-C p.Ala606Pro missense ADAMTS13 1 83226 1.20155E-5 41613 0 9.5584E-5
9-136305499-G-A p.Gly607Gly synonymous ADAMTS13 4 83230 4.80596E-5 41615 0 2.38861E-5
9-136305508-C-T p.Ser610Ser synonymous ADAMTS13 239 83194 0.0028728 41597 2 0.00723437
9-136305516-C-G p.Pro613Arg missense ADAMTS13 1 83208 1.20181E-5 41604 0 NA
9-136305519-A-C p.Asn614Thr missense ADAMTS13 5 83194 6.01005E-5 41597 0 5.97324E-5
9-136305525-C-T p.Thr616Ile missense ADAMTS13 1 83210 1.20178E-5 41605 0 NA
9-136305529-C-T p.Tyr617Tyr synonymous ADAMTS13 3 83210 3.60534E-5 41605 0 4.14724E-5
9-136305530-C-G p.Pro618Ala missense ADAMTS13 5629 83116 0.0677246 41558 215 0.0631439
9-136305535-C-T p.Ser619Ser synonymous ADAMTS13 1 83218 1.20166E-5 41609 0 7.96756E-6
9-136305537-T-A p.Leu620His missense ADAMTS13 1 83190 1.20207E-5 41595 0 3.18979E-5
9-136305539-C-A p.Leu621Met missense ADAMTS13 2 83198 2.4039E-5 41599 0 NA
9-136305551-C-T p.Arg625Cys missense ADAMTS13 3 83130 3.60881E-5 41565 0 9.56023E-5
9-136305552-G-A p.Arg625His missense ADAMTS13 689 83096 0.00829161 41548 20 0.0201173
9-136305556-C-T p.Val626Val synonymous ADAMTS13 1 83108 1.20325E-5 41554 0 3.33511E-5
9-136305559-G-A p.Glu627Glu synonymous ADAMTS13 1 83108 1.20325E-5 41554 0 NA
9-136305563-A-T p.Arg629* stop_gained ADAMTS13 1 83102 1.20334E-5 41551 0 NA
9-136305577-C-T p.Thr633Thr synonymous ADAMTS13 24 82994 2.89178E-4 41497 0 9.88457E-4
9-136305578-G-A p.Glu634Lys missense ADAMTS13 3 83012 3.61394E-5 41506 0 6.37552E-5
9-136305583-C-T p.Asp635Asp synonymous ADAMTS13 1 82976 1.20517E-5 41488 0 NA
9-136305584-C-T p.Arg636Trp missense ADAMTS13 8 82910 9.64902E-5 41455 0 2.58349E-5
9-136305593-C-T p.Arg639Cys missense ADAMTS13 6 82830 7.24375E-5 41415 0 1.14121E-4
9-136305599-G-A p.Glu641Lys missense ADAMTS13 2 82734 2.41739E-5 41367 0 2.80689E-5
9-136305608-C-T p.Arg644Cys missense ADAMTS13 3 82590 3.6324E-5 41295 0 7.60167E-5
9-136305609-G-A p.Arg644His missense ADAMTS13 2 82552 2.42272E-5 41276 0 3.18756E-5
9-136305613-C-A p.Ile645Ile synonymous ADAMTS13 1 82560 1.21124E-5 41280 0 1.59327E-4
9-136305649-CAG-C c.1968+4_1968+5delAG splice_region ADAMTS13 1 81836 1.22196E-5 40918 0 NA
9-136307520-G-A p.Val657Ile missense+splice_region ADAMTS13 1 83196 1.20198E-5 41598 0 8.26091E-6
9-136307527-G-A p.Arg659Lys missense ADAMTS13 19 83206 2.28349E-4 41603 0 1.59236E-4
9-136307529-C-T p.Arg660Trp missense ADAMTS13 1 83208 1.20181E-5 41604 0 4.13134E-5
9-136307530-G-A p.Arg660Gln missense ADAMTS13 1 83208 1.20181E-5 41604 0 3.18552E-5
9-136307531-G-A p.Arg660Arg synonymous ADAMTS13 1 83204 1.20187E-5 41602 0 NA
9-136307537-C-G p.Gly662Gly synonymous ADAMTS13 3 83202 3.60568E-5 41601 0 5.17331E-5
9-136307537-C-T p.Gly662Gly synonymous ADAMTS13 1 83204 1.20187E-5 41602 0 6.37105E-5
9-136307559-C-T p.Arg670Cys missense ADAMTS13 8 83206 9.61469E-5 41603 0 9.55657E-5
9-136307559-C-G p.Arg670Gly missense ADAMTS13 1 83206 1.20184E-5 41603 0 NA
9-136307560-G-A p.Arg670His missense ADAMTS13 15 83196 1.80297E-4 41598 0 1.91039E-4
9-136307573-C-T p.Thr674Thr synonymous ADAMTS13 1 83178 1.20224E-5 41589 0 3.58183E-5
9-136307589-C-G p.Pro680Ala missense ADAMTS13 1 83152 1.20262E-5 41576 0 NA
9-136307601-C-T p.Gln684* stop_gained ADAMTS13 1 83088 1.20354E-5 41544 0 2.4834E-5
9-136307618-C-T p.Ala689Ala synonymous ADAMTS13 4 83020 4.81812E-5 41510 0 9.11154E-5
9-136307619-G-A p.Ala690Thr missense ADAMTS13 1 83010 1.20467E-5 41505 0 8.28391E-6
9-136307621-T-C p.Ala690Ala synonymous ADAMTS13 1 83018 1.20456E-5 41509 0 NA
9-136307622-G-C p.Val691Leu missense ADAMTS13 1 83026 1.20444E-5 41513 0 NA
9-136307625-C-T p.Arg692Cys missense ADAMTS13 1 83016 1.20459E-5 41508 0 3.18613E-5
9-136307638-C-T p.Ser696Leu missense ADAMTS13 2 82952 2.41103E-5 41476 0 9.55657E-5
9-136307639-G-A p.Ser696Ser synonymous ADAMTS13 1 82950 1.20555E-5 41475 0 1.65796E-5
9-136307640-G-A p.Val697Met missense ADAMTS13 4 82946 4.82241E-5 41473 0 7.46071E-5
9-136307648-T-C p.Cys699Cys synonymous ADAMTS13 1 82918 1.20601E-5 41459 0 NA
9-136307727-C-T c.2105-8C>T splice_region ADAMTS13 1 82788 1.2079E-5 41394 0 6.37186E-5
9-136307736-G-T p.Gly702Gly splice_region+synonymous ADAMTS13 4 82718 4.83571E-5 41359 0 NA
9-136307737-C-T p.Leu703Leu splice_region+synonymous ADAMTS13 3 82746 3.62555E-5 41373 0 1.91095E-4
9-136307740-C-T p.Arg704Cys missense ADAMTS13 1 82686 1.20939E-5 41343 0 3.9896E-6
9-136307763-G-C p.Leu711Leu synonymous ADAMTS13 1 82656 1.20983E-5 41328 0 7.98002E-6
9-136307797-C-A p.Gln723Lys missense ADAMTS13 2 82508 2.42401E-5 41254 0 1.50618E-4
9-136307808-G-A p.Gly726Gly synonymous ADAMTS13 2 82438 2.42607E-5 41219 0 NA
9-136307825-C-T p.Ala732Val missense ADAMTS13 815 82276 0.00990568 41138 2 0.0102816
9-136307826-G-A p.Ala732Ala synonymous ADAMTS13 2 82286 2.43055E-5 41143 0 4.20232E-5
9-136307829-G-A p.Trp733* stop_gained ADAMTS13 1 82280 1.21536E-5 41140 0 4.00006E-6
9-136307841-C-T p.Cys737Cys synonymous ADAMTS13 2 82108 2.43582E-5 41054 0 9.55171E-5
9-136307842-G-A p.Val738Met missense ADAMTS13 2 82088 2.43641E-5 41044 0 6.25E-4
9-136307844-G-C p.Val738Val synonymous ADAMTS13 1 82058 1.21865E-5 41029 0 1.34805E-4
9-136307847-C-T p.Leu739Leu synonymous ADAMTS13 85 81978 0.00103686 40989 0 7.33379E-4
9-136307848-G-A p.Glu740Lys missense ADAMTS13 398 81932 0.00485769 40966 9 0.0107
9-136308502-C-T p.Ala747Val missense ADAMTS13 1 77402 1.29196E-5 38701 0 4.51741E-5
9-136308515-C-T p.Phe751Phe synonymous ADAMTS13 2 77722 2.57327E-5 38861 0 0.00204918
9-136308516-G-A p.Gly752Ser missense ADAMTS13 25 77718 3.21676E-4 38859 0 7.65941E-4
9-136308524-C-T p.Cys754Cys synonymous ADAMTS13 1 77796 1.28541E-5 38898 0 NA
9-136308527-C-T p.Ser755Ser synonymous ADAMTS13 3 77762 3.85793E-5 38881 0 0.0020429
9-136308530-C-T p.Ala756Ala synonymous ADAMTS13 7 77838 8.99304E-5 38919 0 9.57121E-5
9-136308540-G-A p.Gly760Ser missense ADAMTS13 1 77728 1.28654E-5 38864 0 3.19224E-5
9-136308542-C-T p.Gly760Gly synonymous ADAMTS13 32925 75100 0.438415 37550 7411 0.51817
9-136308549-C-T p.Arg763Trp missense ADAMTS13 1 77462 1.29096E-5 38731 0 7.19197E-5
9-136308555-C-T p.Arg765Trp missense ADAMTS13 1 77230 1.29483E-5 38615 0 6.00619E-5
9-136308557-G-T p.Arg765Arg synonymous ADAMTS13 2 77218 2.59007E-5 38609 0 NA
9-136308560-A-G p.Pro766Pro synonymous ADAMTS13 3 77236 3.8842E-5 38618 0 1.86712E-5
9-136308564-C-T p.Arg768Cys missense ADAMTS13 3 76886 3.90188E-5 38443 0 2.8342E-5
9-136308565-G-A p.Arg768His missense ADAMTS13 8 76698 1.04305E-4 38349 0 0.0015213
9-136308569-C-T p.Cys769Cys synonymous ADAMTS13 4 76608 5.22139E-5 38304 0 1.42387E-5
9-136308570-G-A p.Val770Met missense ADAMTS13 10 76652 1.3046E-4 38326 0 3.51213E-4
9-136308577-C-T p.Ala772Val missense ADAMTS13 1 76274 1.31106E-5 38137 0 NA
9-136308606-C-G p.Pro782Ala missense ADAMTS13 1 73796 1.35509E-5 36898 0 NA
9-136308610-C-G p.Ala783Gly missense ADAMTS13 2 73054 2.7377E-5 36527 0 NA
9-136308612-C-T p.Arg784Trp missense ADAMTS13 3 72564 4.13428E-5 36282 0 5.07099E-4
9-136308613-G-A p.Arg784Gln missense ADAMTS13 5 72426 6.9036E-5 36213 0 0.00658561
9-136308624-G-A p.Gly788Arg missense ADAMTS13 1 70872 1.41099E-5 35436 0 NA
9-136308627-G-A p.Ala789Thr missense ADAMTS13 4 70008 5.71363E-5 35004 0 3.06642E-5
9-136308627-G-T p.Ala789Ser missense ADAMTS13 3 70008 4.28522E-5 35004 0 5.07099E-4
9-136308646-C-T p.Ala795Val missense ADAMTS13 24 66392 3.61489E-4 33196 0 0.00111721
9-136308646-C-A p.Ala795Glu missense ADAMTS13 1 66392 1.50621E-5 33196 0 NA
9-136308647-G-A p.Ala795Ala synonymous ADAMTS13 3 66046 4.54229E-5 33023 0 0.0025641
9-136310022-G-A p.Trp341* stop_gained ADAMTS13 3 82024 3.65747E-5 41012 0 NA
9-136310035-G-T p.Gly346Cys missense ADAMTS13 1 82126 1.21764E-5 41063 0 NA
9-136310037-C-T p.Ala825Val missense ADAMTS13 1 82132 1.21755E-5 41066 0 3.99454E-6
9-136310047-C-T p.Arg350* stop_gained ADAMTS13 1 82146 1.21734E-5 41073 0 NA
9-136310055-G-A p.Cys831Tyr missense ADAMTS13 1 82194 1.21663E-5 41097 0 8.36694E-6
9-136310057-G-A p.Val832Met missense ADAMTS13 139 82160 0.00169182 41080 0 0.00417517
9-136310067-C-T p.Ala835Val missense ADAMTS13 1 82082 1.21829E-5 41041 0 NA
9-136310071-T-C p.Trp358Arg missense ADAMTS13 495 82084 0.00603041 41042 12 0.0128736
9-136310092-T-G p.Ter365Glyext*? stop_lost ADAMTS13 1 81948 1.22029E-5 40974 0 NA
9-136310096-G-A p.Gly845Arg missense ADAMTS13 3 81912 3.66247E-5 40956 0 NA
9-136310098-G-C p.Gly845Gly synonymous ADAMTS13 1 81890 1.22115E-5 40945 0 NA
9-136310108-G-A p.Val849Ile missense ADAMTS13 42 81770 5.13636E-4 40885 0 0.00352823
9-136310110-A-G p.Val849Val synonymous ADAMTS13 1 81810 1.22234E-5 40905 0 NA
9-136310112-A-T p.Asp850Val missense ADAMTS13 1 81774 1.22288E-5 40887 0 3.18776E-5
9-136310115-A-G p.Glu851Gly missense ADAMTS13 1 81754 1.22318E-5 40877 0 1.68325E-5
9-136310121-T-C p.Leu853Pro missense ADAMTS13 1 81684 1.22423E-5 40842 0 NA
9-136310123-C-A p.Pro854Thr missense ADAMTS13 1 81656 1.22465E-5 40828 0 NA
9-136310127-C-A p.Ala855Asp missense ADAMTS13 1 81618 1.22522E-5 40809 0 3.99802E-6
9-136310128-C-T p.Ala855Ala synonymous ADAMTS13 1 81622 1.22516E-5 40811 0 NA
9-136310136-CCT-C p.Val860fs frameshift ADAMTS13 1 81506 1.2269E-5 40753 0 8.50528E-6
9-136310143-C-T p.Val860Val synonymous ADAMTS13 102 81410 0.00125292 40705 0 0.00755287
9-136310147-A-G p.Met862Val missense ADAMTS13 3 81312 3.68949E-5 40656 0 4.00509E-6
9-136310153-T-C p.Cys864Arg missense ADAMTS13 3 81248 3.6924E-5 40624 0 8.69066E-6
9-136310168-G-A p.Gly869Ser missense ADAMTS13 2 80942 2.47091E-5 40471 0 5.40706E-5
9-136310820-C-G p.Leu871Val missense+splice_region ADAMTS13 1 79276 1.26142E-5 39638 0 NA
9-136310858-A-G p.Pro883Pro synonymous ADAMTS13 1 79572 1.25672E-5 39786 0 NA
9-136310867-C-T p.Ser886Ser synonymous ADAMTS13 1 79638 1.25568E-5 39819 0 NA
9-136310875-C-T p.Thr889Met missense ADAMTS13 1 79586 1.2565E-5 39793 0 6.37471E-5
9-136310876-G-A p.Thr889Thr synonymous ADAMTS13 1 79620 1.25597E-5 39810 0 2.02423E-5
9-136310878-G-A p.Gly890Glu missense ADAMTS13 1 79592 1.25641E-5 39796 0 NA
9-136310891-A-G p.Ala894Ala synonymous ADAMTS13 1 79590 1.25644E-5 39795 0 NA
9-136310895-G-A p.Val896Met missense ADAMTS13 10 79540 1.25723E-4 39770 0 2.552E-4
9-136310902-C-T p.Thr898Ile missense ADAMTS13 1 79504 1.2578E-5 39752 0 NA
9-136310904-C-T p.Pro899Ser missense ADAMTS13 1 79470 1.25834E-5 39735 0 NA
9-136310908-C-T p.Ala900Val missense ADAMTS13 7214 78952 0.091372 39476 324 0.10644
9-136310909-G-A p.Ala900Ala synonymous ADAMTS13 8 79384 1.00776E-4 39692 0 0.00100705
9-136310910-G-T p.Ala901Ser missense ADAMTS13 13 79378 1.63773E-4 39689 0 2.88211E-5
9-136310917-C-T p.Ser903Leu missense ADAMTS13 74 79034 9.36306E-4 39517 2 0.00360623
9-136310918-G-A p.Ser903Ser synonymous ADAMTS13 4 79030 5.06137E-5 39515 0 9.67305E-5
9-136310924-C-T p.Ser905Ser synonymous ADAMTS13 6 78920 7.60264E-5 39460 0 5.03525E-4
9-136310930-C-T p.Ser907Ser synonymous ADAMTS13 3 78780 3.80807E-5 39390 0 1.91351E-4
9-136310933-C-T p.Cys908Cys synonymous ADAMTS13 2 78630 2.54356E-5 39315 0 1.276E-4
9-136310938-G-A p.Arg910Gln missense+splice_region ADAMTS13 1 78414 1.27528E-5 39207 0 8.98779E-6
9-136310944-A-G c.2731+4A>G splice_region ADAMTS13 1 78214 1.27854E-5 39107 0 NA
9-136313715-C-T c.2732-5C>T splice_region ADAMTS13 3 82240 3.64786E-5 41120 0 6.84066E-5
9-136313717-C-T c.2732-3C>T splice_region ADAMTS13 4 82252 4.8631E-5 41126 0 NA
9-136313734-C-T p.Arg916Cys missense ADAMTS13 4 82288 4.86098E-5 41144 0 3.18532E-5
9-136313735-G-A p.Arg916His missense ADAMTS13 7 82316 8.50381E-5 41158 0 3.18492E-5
9-136313760-C-T p.Leu924Leu synonymous ADAMTS13 1 82270 1.21551E-5 41135 0 3.18431E-5
9-136313775-G-A p.Gln929Gln synonymous ADAMTS13 1 82216 1.21631E-5 41108 0 5.03525E-4
9-136313792-T-C p.Leu935Pro missense ADAMTS13 1 82108 1.21791E-5 41054 0 1.61896E-5
9-136313802-G-T p.Lys938Asn missense ADAMTS13 2 81974 2.4398E-5 40987 0 NA
9-136313806-G-A p.Gly940Arg missense ADAMTS13 1 81970 1.21996E-5 40985 0 NA
9-136313812-C-T p.Arg942Trp missense ADAMTS13 5 81822 6.11083E-5 40911 0 3.18532E-5
9-136313813-G-A p.Arg942Gln missense ADAMTS13 5 81832 6.11008E-5 40916 0 3.18471E-5
9-136313815-C-T p.Arg943Trp missense ADAMTS13 2 81744 2.44666E-5 40872 0 6.37186E-5
9-136313816-G-A p.Arg943Gln missense ADAMTS13 5 81736 6.11726E-5 40868 0 9.81828E-5
9-136313822-T-G p.Val945Gly missense ADAMTS13 6 81504 7.3616E-5 40752 0 9.56694E-5
9-136313826-C-A p.Cys946* stop_gained ADAMTS13 1 81488 1.22717E-5 40744 0 NA
9-136313837-C-T p.Pro950Leu missense ADAMTS13 1 81184 1.23177E-5 40592 0 4.54298E-5
9-136313838-G-A p.Pro950Pro synonymous ADAMTS13 5 81082 6.1666E-5 40541 0 5.99356E-5
9-136313842-C-T p.Pro952Ser missense ADAMTS13 29 80910 3.58423E-4 40455 0 0.00101215
9-136313848-C-T p.Arg954Trp missense+splice_region ADAMTS13 1 80540 1.24162E-5 40270 0 8.30241E-6
9-136313849-G-A p.Arg954Gln missense+splice_region ADAMTS13 15 80452 1.86447E-4 40226 0 8.84173E-5
9-136314915-A-G p.Lys958Arg missense ADAMTS13 1 82744 1.20855E-5 41372 0 NA
9-136314921-C-T p.Ala960Val missense ADAMTS13 4 82800 4.83092E-5 41400 0 1.66328E-5
9-136314922-G-T p.Ala960Ala synonymous ADAMTS13 7 82834 8.45064E-5 41417 0 NA
9-136314922-G-A p.Ala960Ala synonymous ADAMTS13 5 82834 6.03617E-5 41417 0 3.18857E-5
9-136314931-C-T p.Ser963Ser synonymous ADAMTS13 1 82908 1.20616E-5 41454 0 4.9877E-5
9-136314932-G-A p.Val964Met missense ADAMTS13 15 82924 1.80889E-4 41462 0 0.00100806
9-136314934-G-C p.Val964Val synonymous ADAMTS13 1 82930 1.20584E-5 41465 0 5.98606E-5
9-136314940-T-C p.Cys966Cys synonymous ADAMTS13 1 82960 1.2054E-5 41480 0 NA
9-136314952-C-T p.Val970Val synonymous ADAMTS13 2438 82926 0.0293997 41463 43 0.0331865
9-136314954-T-C p.Val971Ala missense ADAMTS13 2 82974 2.41039E-5 41487 0 3.19122E-5
9-136314956-C-T p.Arg972Trp missense ADAMTS13 4 82964 4.82137E-5 41482 0 6.38121E-5
9-136314957-G-A p.Arg972Gln missense ADAMTS13 27 82978 3.25387E-4 41489 1 0.00353179
9-136314973-T-C p.Cys977Cys synonymous ADAMTS13 1 82938 1.20572E-5 41469 0 NA
9-136314975-C-T p.Ala978Val missense ADAMTS13 1 82922 1.20595E-5 41461 0 3.99065E-6
9-136314977-C-T p.Arg979Trp missense ADAMTS13 1 82934 1.20578E-5 41467 0 8.34446E-6
9-136314978-G-A p.Arg979Gln missense ADAMTS13 8 82908 9.64925E-5 41454 0 4.14991E-4
9-136314979-G-A p.Arg979Arg synonymous ADAMTS13 1 82928 1.20587E-5 41464 0 3.99096E-6
9-136314986-G-A p.Gly982Arg missense ADAMTS13 88 82866 0.00106196 41433 0 0.00169091
9-136314994-C-T p.Asp984Asp synonymous ADAMTS13 1 82794 1.20782E-5 41397 0 3.19224E-5
9-136314995-G-A p.Asp985Asn missense ADAMTS13 2 82782 2.41598E-5 41391 0 1.19856E-5
9-136315018-C-T p.Asp992Asp synonymous ADAMTS13 1 82398 1.21362E-5 41199 0 1.5849E-4
9-136315020-C-T p.Thr993Ile missense ADAMTS13 3 82380 3.64166E-5 41190 0 2.81167E-5
9-136315024-G-C p.Gln994His missense ADAMTS13 1 82294 1.21516E-5 41147 0 3.18817E-5
9-136315033-G-A p.Gly997Gly synonymous ADAMTS13 1 81900 1.221E-5 40950 0 3.19163E-5
9-136315034-C-G p.Leu998Val missense ADAMTS13 11 81912 1.3429E-4 40956 0 3.65482E-5
9-136315034-C-T p.Leu998Leu synonymous ADAMTS13 1 81914 1.22079E-5 40957 0 NA
9-136315040-C-T p.Arg1000Cys missense ADAMTS13 1 81600 1.22549E-5 40800 0 3.02456E-5
9-136315041-G-A p.Arg1000His missense ADAMTS13 1 81438 1.22793E-5 40719 0 1.63706E-5
9-136315044-C-T p.Pro1001Leu missense ADAMTS13 1 81366 1.22901E-5 40683 0 3.19346E-5
9-136315045-G-A p.Pro1001Pro synonymous ADAMTS13 8 81316 9.83816E-5 40658 0 2.234E-4
9-136315071-A-G p.Glu1010Gly missense ADAMTS13 1 80370 1.24425E-5 40185 0 3.19122E-5
9-136315089-G-A c.3044+3G>A splice_region ADAMTS13 1 79544 1.25717E-5 39772 0 NA
9-136315094-A-C c.3044+8A>C splice_region ADAMTS13 2 79330 2.52111E-5 39665 0 9.61603E-6
9-136319544-G-A p.Val1018Ile missense ADAMTS13 1 82112 1.21785E-5 41056 0 2.48859E-5
9-136319545-T-C p.Val1018Ala missense ADAMTS13 1 82158 1.21717E-5 41079 0 1.19859E-5
9-136319562-T-G p.Cys1024Gly missense ADAMTS13 2 82564 2.42236E-5 41282 0 1.27421E-4
9-136319562-T-C p.Cys1024Arg missense ADAMTS13 1 82564 1.21118E-5 41282 0 NA
9-136319567-G-A p.Ser1025Ser synonymous ADAMTS13 1 82586 1.21086E-5 41293 0 0.00100705
9-136319569-C-T p.Ala1026Val missense ADAMTS13 4 82602 4.8425E-5 41301 0 8.29463E-6
9-136319587-C-T p.Thr1032Ile missense ADAMTS13 1 82678 1.20951E-5 41339 0 NA
9-136319589-G-A p.Ala1033Thr missense ADAMTS13 2389 82602 0.0289218 41301 41 0.0325581
9-136319595-C-T p.Arg1035Cys missense ADAMTS13 4 82708 4.83629E-5 41354 0 2.49078E-5
9-136319599-C-T p.Ser1036Leu missense ADAMTS13 2 82686 2.41879E-5 41343 0 4.98273E-5
9-136319600-G-A p.Ser1036Ser synonymous ADAMTS13 3412 82582 0.0413165 41291 77 0.0584089
9-136319615-G-C p.Gln1041His missense ADAMTS13 1 82668 1.20966E-5 41334 0 NA
9-136319616-C-T p.Leu1042Phe missense ADAMTS13 2 82664 2.41943E-5 41332 0 3.99882E-6
9-136319618-C-T p.Leu1042Leu synonymous ADAMTS13 1 82638 1.2101E-5 41319 0 NA
9-136319620-A-ACC p.Gln1044fs frameshift ADAMTS13 2 82632 2.42037E-5 41316 0 NA
9-136319625-G-A p.Gly1045Ser missense ADAMTS13 1 82674 1.20957E-5 41337 0 8.32778E-6
9-136319633-C-T p.Asp1047Asp synonymous ADAMTS13 4 82604 4.84238E-5 41302 0 3.33489E-5
9-136319634-G-A p.Val1048Met missense ADAMTS13 3 82624 3.63091E-5 41312 0 4.17091E-5
9-136319642-G-A p.Val1050Val synonymous ADAMTS13 68 82590 8.23344E-4 41295 0 0.00251608
9-136319643-G-T p.Asp1051Tyr missense ADAMTS13 1 82586 1.21086E-5 41293 0 NA
9-136319645-C-T p.Asp1051Asp synonymous ADAMTS13 4 82542 4.84602E-5 41271 0 7.25011E-5
9-136319650-C-T p.Ala1053Val missense ADAMTS13 9 82452 1.09154E-4 41226 0 1.27437E-4
9-136319651-G-A p.Ala1053Ala synonymous ADAMTS13 43 82414 5.21756E-4 41207 0 0.00352823
9-136319656-G-T p.Cys1055Phe missense ADAMTS13 1 82358 1.21421E-5 41179 0 NA
9-136319659-C-A p.Ala1056Glu missense ADAMTS13 1 82230 1.2161E-5 41115 0 4.05403E-6
9-136319659-C-T p.Ala1056Val missense ADAMTS13 1 82230 1.2161E-5 41115 0 8.10806E-6
9-136319660-G-A p.Ala1056Ala synonymous ADAMTS13 1 82184 1.21678E-5 41092 0 5.08406E-5
9-136319663-G-A p.Ala1057Ala synonymous ADAMTS13 95 82082 0.00115738 41041 0 0.002645
9-136319670-C-T p.Arg1060Trp missense ADAMTS13 45 81904 5.49424E-4 40952 0 0.0015121
9-136319671-G-A p.Arg1060Gln missense ADAMTS13 5 81894 6.10545E-5 40947 0 5.04541E-4
9-136319672-GCC-G p.Pro1061fs frameshift ADAMTS13 1 81830 1.22205E-5 40915 0 NA
9-136319675-C-T p.Pro1061Pro synonymous ADAMTS13 3 81760 3.66928E-5 40880 0 1.63429E-5
9-136319681-C-T p.Ala1063Ala synonymous ADAMTS13 1 81608 1.22537E-5 40804 0 NA
9-136319685-G-T p.Val1065Phe missense ADAMTS13 1 81508 1.22687E-5 40754 0 4.09611E-6
9-136319689-CCT-C p.Cys1067fs frameshift ADAMTS13 1 81458 1.22763E-5 40729 0 3.18573E-5
9-136319693-T-A p.Cys1067* stop_gained ADAMTS13 1 81332 1.22953E-5 40666 0 NA
9-136319696-C-T p.Leu1068Leu synonymous ADAMTS13 1 81234 1.23101E-5 40617 0 NA
9-136319702-C-T p.Ala1070Ala synonymous ADAMTS13 3 80890 3.70874E-5 40445 0 4.58833E-5
9-136319703-G-A p.Asp1071Asn missense ADAMTS13 1 80846 1.23692E-5 40423 0 2.0695E-5
9-136319708-C-T p.Cys1072Cys synonymous ADAMTS13 1 80752 1.23836E-5 40376 0 NA
9-136319710-C-T p.Thr1073Ile missense ADAMTS13 1 80730 1.2387E-5 40365 0 1.6638E-5
9-136319715-C-T p.Arg1075Cys missense ADAMTS13 3 80660 3.71932E-5 40330 0 9.9226E-6
9-136319716-G-T p.Arg1075Leu missense ADAMTS13 1 80528 1.2418E-5 40264 0 NA
9-136319718-T-C p.Trp1076Arg missense ADAMTS13 1 80508 1.24211E-5 40254 0 NA
9-136319722-A-G p.His1077Arg missense ADAMTS13 2 80364 2.48868E-5 40182 0 NA
9-136319723-T-C p.His1077His synonymous ADAMTS13 1 80356 1.24446E-5 40178 0 NA
9-136319728-G-A p.Gly1079Asp missense ADAMTS13 1 80102 1.24841E-5 40051 0 NA
9-136320416-T-G p.Ser1087Ala missense ADAMTS13 1 82778 1.20805E-5 41389 0 NA
9-136320424-G-C p.Gly1089Gly synonymous ADAMTS13 1 82802 1.2077E-5 41401 0 4.11624E-6
9-136320437-C-T p.Arg1094Cys missense ADAMTS13 1 82766 1.20823E-5 41383 0 2.50108E-5
9-136320438-G-A p.Arg1094His missense ADAMTS13 1 82730 1.20875E-5 41365 0 1.27592E-4
9-136320444-G-A p.Arg1096His missense ADAMTS13 837 82702 0.0101207 41351 29 0.0180833
9-136320449-A-G p.Thr1098Ala missense ADAMTS13 2 82678 2.41902E-5 41339 0 6.37999E-5
9-136320457-C-T p.Leu1100Leu synonymous ADAMTS13 4 82644 4.84004E-5 41322 0 6.37674E-5
9-136320458-G-A p.Gly1101Arg missense ADAMTS13 2 82602 2.42125E-5 41301 0 3.18959E-5
9-136320468-C-T p.Ala1104Val missense ADAMTS13 2 82494 2.42442E-5 41247 0 NA
9-136320474-C-T p.Ala1106Val missense ADAMTS13 2 82344 2.42884E-5 41172 0 1.27502E-4
9-136320492-T-G p.Phe1112Cys missense ADAMTS13 5 82134 6.08761E-5 41067 0 6.37389E-5
9-136320497-C-T p.Gln1114* stop_gained ADAMTS13 1 82068 1.2185E-5 41034 0 NA
9-136320505-G-A p.Leu1116Leu synonymous ADAMTS13 17 81794 2.07839E-4 40897 0 0.00151057
9-136320513-C-T p.Pro1119Leu missense ADAMTS13 3 81604 3.67629E-5 40802 0 8.00807E-6
9-136320514-G-A p.Pro1119Pro synonymous ADAMTS13 3 81552 3.67863E-5 40776 0 1.20168E-5
9-136320537-C-T p.Ala1127Val missense ADAMTS13 1 80604 1.24063E-5 40302 0 NA
9-136320556-G-T p.Gln1133His missense+splice_region ADAMTS13 2 79964 2.50113E-5 39982 0 NA
9-136320557-G-A p.Gly1134Ser missense+splice_region ADAMTS13 10 79876 1.25194E-4 39938 0 3.48376E-4
9-136320561-C-T p.Thr1135Met missense ADAMTS13 3 79422 3.77729E-5 39711 0 3.18959E-5
9-136320572-G-A p.Val1139Met missense ADAMTS13 1 78840 1.26839E-5 39420 0 4.0701E-6
9-136320574-G-T p.Val1139Val synonymous ADAMTS13 10 78554 1.27301E-4 39277 0 0.0040282
9-136320580-C-T p.His1141His synonymous ADAMTS13 20 78314 2.55382E-4 39157 0 1.67562E-4
9-136320580-C-A p.His1141Gln missense ADAMTS13 1 78318 1.27685E-5 39159 0 NA
9-136320581-G-A p.Glu1142Lys missense ADAMTS13 7 78298 8.9402E-5 39149 0 9.56572E-5
9-136320589-C-T p.Ala1144Ala synonymous ADAMTS13 5 78012 6.40927E-5 39006 0 3.18817E-5
9-136320590-G-A p.Ala1145Thr missense ADAMTS13 6 77750 7.71704E-5 38875 0 1.37523E-4
9-136320602-C-T p.Arg1149Trp missense ADAMTS13 64 77066 8.30457E-4 38533 0 0.00239112
9-136320603-G-A p.Arg1149Gln missense ADAMTS13 3 76888 3.90178E-5 38444 0 3.18776E-5
9-136320604-G-A p.Arg1149Arg synonymous ADAMTS13 2 76870 2.6018E-5 38435 0 4.09453E-6
9-136320635-GAGTGGTCC-G p.Glu1160fs frameshift ADAMTS13 1 76158 1.31306E-5 38079 0 NA
9-136320650-C-T p.Arg1165Trp missense ADAMTS13 2 76090 2.62847E-5 38045 0 6.98568E-5
9-136320665-T-C p.Ser1170Pro missense ADAMTS13 1 76182 1.31265E-5 38091 0 3.18898E-5
9-136320666-C-A p.Ser1170Tyr missense ADAMTS13 1 76496 1.30726E-5 38248 0 8.30537E-6
9-136320668-C-T p.Pro1171Ser missense ADAMTS13 18 76464 2.35405E-4 38232 0 6.05636E-4
9-136320669-C-T p.Pro1171Leu missense ADAMTS13 1 76414 1.30866E-5 38207 0 7.01262E-4
9-136320670-G-A p.Pro1171Pro synonymous ADAMTS13 1 76234 1.31175E-5 38117 0 6.3857E-4
9-136320674-C-T p.Pro1173Ser missense ADAMTS13 1 76550 1.30634E-5 38275 0 7.01619E-5
9-136320676-C-T p.Pro1173Pro synonymous ADAMTS13 1 76642 1.30477E-5 38321 0 NA
9-136320682-T-C p.Pro1175Pro synonymous ADAMTS13 1 76530 1.30668E-5 38265 0 3.18796E-5
9-136320683-C-T p.Arg1176Trp missense ADAMTS13 3 76456 3.92383E-5 38228 0 5.2803E-5
9-136320686-C-T p.Arg1177Trp missense ADAMTS13 6 76378 7.85567E-5 38189 0 1.59429E-4
9-136320687-G-A p.Arg1177Gln missense ADAMTS13 2 76270 2.62226E-5 38135 0 6.34518E-4
9-136320688-G-A p.Arg1177Arg synonymous ADAMTS13 1 76300 1.31062E-5 38150 0 NA
9-136320693-T-A p.Leu1179Gln missense ADAMTS13 5 76442 6.54091E-5 38221 0 7.9284E-5
9-136320698-G-A p.Gly1181Arg missense ADAMTS13 62 75994 8.15854E-4 37997 1 0.00191176
9-136320698-G-C p.Gly1181Arg missense ADAMTS13 1 75996 1.31586E-5 37998 0 NA
9-136320716-G-T p.Val1187Leu missense ADAMTS13 1 75694 1.32111E-5 37847 0 8.79446E-6
9-136320717-T-C p.Val1187Ala missense ADAMTS13 1 75632 1.32219E-5 37816 0 NA
9-136320729-A-G c.*2436+4A>G splice_region ADAMTS13 1 74532 1.34171E-5 37266 0 NA
9-136320729-A-T c.*2436+4A>T splice_region ADAMTS13 2 74532 2.68341E-5 37266 0 NA
9-136320730-T-C c.*2436+5T>C splice_region ADAMTS13 1 74448 1.34322E-5 37224 0 1.2796E-5
9-136320733-C-T c.*2436+8C>T splice_region ADAMTS13 1 73906 1.35307E-5 36953 0 3.52131E-5
9-136320826-T-C c.-140T>C 5_prime_UTR_premature_start_codon_gain ADAMTS13 3 52786 5.68333E-5 26393 0 NA
9-136320830-G-A c.-136G>A 5_prime_UTR_premature_start_codon_gain ADAMTS13 1 52332 1.91088E-5 26166 0 NA
9-136321193-G-A p.Ala1135Thr missense+splice_region ADAMTS13 1 82634 1.21016E-5 41317 0 NA
9-136321198-T-C p.Cys1136Cys synonymous ADAMTS13 1 82716 1.20896E-5 41358 0 NA
9-136321210-C-A p.His1140Gln missense ADAMTS13 4 82814 4.8301E-5 41407 0 1.41898E-4
9-136321214-G-C p.Glu1142Gln missense ADAMTS13 1 82842 1.20712E-5 41421 0 NA
9-136321217-C-T p.Pro1143Ser missense ADAMTS13 1 82842 1.20712E-5 41421 0 2.791E-5
9-136321218-C-T p.Pro1143Leu missense ADAMTS13 2 82886 2.41295E-5 41443 0 3.98619E-6
9-136321221-C-A p.Thr1144Lys missense ADAMTS13 2 82892 2.41278E-5 41446 0 3.18492E-5
9-136321221-C-T p.Thr1144Ile missense ADAMTS13 1 82892 1.20639E-5 41446 0 5.03525E-4
9-136321230-T-C p.Ile1147Thr missense ADAMTS13 1 82938 1.20572E-5 41469 0 NA
9-136321236-T-C p.Met1? start_lost ADAMTS13 2 82948 2.41115E-5 41474 0 NA
9-136321246-A-G p.Pro1152Pro synonymous ADAMTS13 1 82978 1.20514E-5 41489 0 NA
9-136321252-G-C p.Gln1154His missense ADAMTS13 1 82998 1.20485E-5 41499 0 NA
9-136321272-T-C p.Ile1161Thr missense ADAMTS13 3 83014 3.61385E-5 41507 0 3.98524E-5
9-136321273-T-C p.Ile1161Ile synonymous ADAMTS13 1 83016 1.20459E-5 41508 0 3.18801E-5
9-136321278-G-A p.Arg1163Gln missense ADAMTS13 3 83004 3.61428E-5 41502 0 1.1958E-5
9-136321283-C-A p.Leu1165Ile missense ADAMTS13 1 83004 1.20476E-5 41502 0 NA
9-136321285-C-T p.Leu1165Leu synonymous ADAMTS13 59 82988 7.10946E-4 41494 0 0.00503525
9-136321299-C-T p.Thr1170Ile missense ADAMTS13 114 82954 0.00137426 41477 0 0.00261146
9-136321305-G-A p.Arg1172His missense ADAMTS13 1 82916 1.20604E-5 41458 0 6.37227E-5
9-136321307-G-A p.Val1173Ile missense ADAMTS13 1 82872 1.20668E-5 41436 0 7.5783E-5
9-136321331-A-G p.Ser1181Gly missense ADAMTS13 6 82506 7.2722E-5 41253 0 7.18833E-5
9-136321335-C-T p.Ala1182Val missense+splice_region ADAMTS13 14 82368 1.69969E-4 41184 0 6.39279E-5
9-136321336-G-A p.Ala1182Ala splice_region+synonymous ADAMTS13 1 82378 1.21392E-5 41189 0 NA
9-136321671-T-C p.Met1185Thr missense ADAMTS13 2 82232 2.43214E-5 41116 0 4.00885E-6
9-136321678-G-A p.Leu1187Leu synonymous ADAMTS13 1 82344 1.21442E-5 41172 0 5.05561E-4
9-136321688-C-T p.Arg1191Trp missense ADAMTS13 10 82398 1.21362E-4 41199 0 2.23058E-4
9-136321689-G-T p.Arg1191Leu missense ADAMTS13 2 82400 2.42718E-5 41200 0 NA
9-136321689-G-A p.Arg1191Gln missense ADAMTS13 6 82400 7.28155E-5 41200 0 2.66932E-5
9-136321693-C-G p.Leu1192Leu synonymous ADAMTS13 1 82426 1.21321E-5 41213 0 0.00125
9-136321695-C-T p.Thr1193Ile missense ADAMTS13 1 82418 1.21333E-5 41209 0 8.90916E-6
9-136321706-A-G p.Met1197Val missense ADAMTS13 6 82454 7.27678E-5 41227 0 2.40304E-5
9-136321718-C-T p.Leu1201Leu synonymous ADAMTS13 2 82446 2.42583E-5 41223 0 1.84071E-5
9-136321727-A-G p.Met1204Val missense ADAMTS13 1 82438 1.21303E-5 41219 0 4.7639E-5
9-136321735-C-T p.Phe1206Phe synonymous ADAMTS13 1 82394 1.21368E-5 41197 0 8.06634E-6
9-136321752-C-T p.Thr1212Met missense ADAMTS13 4 82348 4.85743E-5 41174 0 3.66491E-5
9-136321753-G-A p.Thr1212Thr synonymous ADAMTS13 3 82324 3.64414E-5 41162 0 3.18431E-5
9-136321769-C-T p.Arg1218Cys missense ADAMTS13 3 82174 3.65079E-5 41087 0 6.37308E-5
9-136321771-C-T p.Arg1218Arg synonymous ADAMTS13 2 82148 2.43463E-5 41074 0 NA
9-136321772-T-C p.Cys1219Arg missense ADAMTS13 1 82122 1.2177E-5 41061 0 4.26072E-6
9-136321775-G-A p.Gly1220Arg missense ADAMTS13 53 82102 6.45539E-4 41051 0 6.37308E-4
9-136321778-C-T p.Arg1221Trp missense ADAMTS13 5 82060 6.0931E-5 41030 0 4.64612E-5
9-136321793-G-T p.Val1226Leu missense ADAMTS13 2 82040 2.43784E-5 41020 0 4.68266E-6
9-136321794-T-C p.Val1226Ala missense ADAMTS13 1 82022 1.21919E-5 41011 0 NA
9-136321795-G-A p.Val1226Val synonymous ADAMTS13 330 82022 0.00402331 41011 6 0.00783689
9-136321797-T-A p.Leu1227Gln missense ADAMTS13 1 82036 1.21898E-5 41018 0 NA
9-136321798-G-C p.Leu1227Leu synonymous ADAMTS13 1 82020 1.21921E-5 41010 0 3.18593E-5
9-136321812-G-A p.Ser1232Asn missense ADAMTS13 8 81906 9.76729E-5 40953 0 8.81112E-5
9-136321813-C-T p.Ser1232Ser synonymous ADAMTS13 1 81882 1.22127E-5 40941 0 NA
9-136321821-C-T p.Ala1235Val missense ADAMTS13 1 81806 1.2224E-5 40903 0 NA
9-136321823-C-T p.Pro1236Ser missense ADAMTS13 1 81790 1.22264E-5 40895 0 NA
9-136321826-G-C p.Glu1237Gln missense ADAMTS13 2 81768 2.44594E-5 40884 0 NA
9-136321831-C-T p.Thr1238Thr synonymous ADAMTS13 2 81678 2.44864E-5 40839 0 NA
9-136323041-T-C p.Met1245Thr missense ADAMTS13 2 83160 2.405E-5 41580 0 8.27664E-6
9-136323048-C-T p.Leu1247Leu synonymous ADAMTS13 1 83162 1.20247E-5 41581 0 NA
9-136323049-T-C p.Phe1248Leu missense ADAMTS13 1 83160 1.2025E-5 41580 0 NA
9-136323069-C-T p.Ile1254Ile synonymous ADAMTS13 2 83150 2.40529E-5 41575 0 1.65599E-5
9-136323070-G-A p.Val1255Met missense ADAMTS13 2 83144 2.40547E-5 41572 0 3.18492E-5
9-136323070-G-C p.Val1255Leu missense ADAMTS13 1 83144 1.20273E-5 41572 0 NA
9-136323073-A-C p.Ser1256Arg missense ADAMTS13 2 83138 2.40564E-5 41569 0 NA
9-136323075-C-A p.Ser1256Arg missense ADAMTS13 1 83134 1.20288E-5 41567 0 NA
9-136323080-C-T p.Ser1258Leu missense ADAMTS13 19 83128 2.28563E-4 41564 0 6.25E-4
9-136323086-G-A p.Ser1260Asn missense ADAMTS13 1 83128 1.20296E-5 41564 0 NA
9-136323095-C-T p.Thr1263Met missense ADAMTS13 3 83114 3.6095E-5 41557 0 1.59246E-4
9-136323096-G-A p.Thr1263Thr synonymous ADAMTS13 3 83104 3.60993E-5 41552 0 5.03525E-4
9-136323101-A-T p.Asn1265Ile missense ADAMTS13 1 83086 1.20357E-5 41543 0 5.03525E-4
9-136323101-A-G p.Asn1265Ser missense ADAMTS13 2 83086 2.40714E-5 41543 0 6.37024E-5
9-136323105-A-G p.Ala1266Ala synonymous ADAMTS13 1 83074 1.20375E-5 41537 0 NA
9-136323107-G-C p.Gly1267Ala missense ADAMTS13 5 83080 6.0183E-5 41540 0 0.00100705
9-136323115-C-T p.Arg1270Trp missense ADAMTS13 1 83058 1.20398E-5 41529 0 3.31917E-5
9-136323127-A-G p.Asn1274Asp missense ADAMTS13 1 83032 1.20435E-5 41516 0 7.47409E-5
9-136323129-T-G p.Asn1274Lys missense ADAMTS13 2 83024 2.40894E-5 41512 0 NA
9-136323135-T-A p.Ala1276Ala synonymous ADAMTS13 1 82958 1.20543E-5 41479 0 NA
9-136323137-C-T p.Pro1277Leu missense ADAMTS13 1 82956 1.20546E-5 41478 0 8.31878E-6
9-136323138-G-A p.Pro1277Pro synonymous ADAMTS13 3 82930 3.61751E-5 41465 0 5.03525E-4
9-136323141-C-T p.His1278His synonymous ADAMTS13 4 82924 4.82369E-5 41462 0 0.00151057
9-136323142-G-A p.Ala1279Thr missense ADAMTS13 1 82916 1.20604E-5 41458 0 0.00100705
9-136323156-C-T p.Ile1283Ile synonymous ADAMTS13 25 82866 3.01692E-4 41433 0 5.03525E-4
9-136323159-T-C p.His1284His synonymous ADAMTS13 1 82842 1.20712E-5 41421 0 1.19821E-5
9-136323180-C-T p.Gly1291Gly synonymous ADAMTS13 1 82786 1.20793E-5 41393 0 8.42986E-6
9-136323181-G-A p.Ala1292Thr missense ADAMTS13 1 82772 1.20814E-5 41386 0 3.1839E-5
9-136323189-C-T p.Thr1294Thr synonymous ADAMTS13 2 82752 2.41686E-5 41376 0 4.80184E-5
9-136323199-A-G p.Asn1298Asp missense ADAMTS13 1 82726 1.20881E-5 41363 0 1.71556E-5
9-136323222-G-A c.3909+6G>A splice_region ADAMTS13 1 82540 1.21153E-5 41270 0 8.98989E-6
9-136324096-A-G p.Ile1304Val missense+splice_region ADAMTS13 1 81894 1.22109E-5 40947 0 NA
9-136324099-C-T p.Arg1305Trp missense ADAMTS13 2 82002 2.43896E-5 41001 0 NA
9-136324151-A-T p.Tyr1322Phe missense ADAMTS13 1 82424 1.21324E-5 41212 0 NA
9-136324153-T-C p.Trp1323Arg missense ADAMTS13 1 82436 1.21306E-5 41218 0 NA
9-136324160-C-CA p.Glu1326fs frameshift ADAMTS13 10 82402 1.21356E-4 41201 0 9.34325E-5
9-136324161-A-G p.Ser1325Ser synonymous ADAMTS13 1 82414 1.21339E-5 41207 0 NA
9-136324179-G-C p.Glu1331Asp missense ADAMTS13 1 82360 1.21418E-5 41180 0 NA
9-136324203-G-A p.Leu1339Leu synonymous ADAMTS13 2 82262 2.43126E-5 41131 0 3.18674E-5
9-136324206-G-T p.Lys1340Asn missense ADAMTS13 2 82246 2.43173E-5