Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-24298500-T-C c.-122T>C 5_prime_UTR_premature_start_codon_gain ADAM7 10 77030 1.2982E-4 38515 0 0.00125
8-24298527-G-C c.-95G>C 5_prime_UTR_premature_start_codon_gain ADAM7 18 79896 2.25293E-4 39948 0 4.45888E-4
8-24298593-T-G c.-29T>G 5_prime_UTR_premature_start_codon_gain ADAM7 2 82916 2.41208E-5 41458 0 NA
8-24298599-C-G c.-23C>G 5_prime_UTR_premature_start_codon_gain ADAM7 2 82996 2.40975E-5 41498 0 NA
8-24298625-C-T p.Leu2Phe missense ADAM7 1 83140 1.20279E-5 41570 0 8.2394E-6
8-24298630-CG-C p.Cys5fs frameshift ADAM7 4 83144 4.81093E-5 41572 0 0.00151057
8-24298631-G-A p.Gly4Arg missense ADAM7 22 83162 2.64544E-4 41581 0 2.86569E-4
8-24298632-G-A p.Gly4Glu missense ADAM7 1 83170 1.20236E-5 41585 0 3.18532E-5
8-24298633-G-C p.Gly4Gly synonymous ADAM7 23 83182 2.76502E-4 41591 0 5.73212E-4
8-24298637-A-G p.Ile6Val missense ADAM7 11 83174 1.32253E-4 41587 0 7.55972E-5
8-24298653-T-C p.Leu11Ser missense ADAM7 1 83198 1.20195E-5 41599 0 3.29549E-5
8-24298666-G-C p.Gln15His missense ADAM7 2 83206 2.40367E-5 41603 0 1.64788E-5
8-24299980-T-A c.53-6T>A splice_region ADAM7 2 83094 2.40691E-5 41547 0 1.19348E-5
8-24299981-C-G c.53-5C>G splice_region ADAM7 1 83114 1.20317E-5 41557 0 2.47121E-5
8-24299983-T-C c.53-3T>C splice_region ADAM7 290 83162 0.00348717 41581 2 0.00773738
8-24300006-G-C p.Glu25Gln missense ADAM7 309 83256 0.00371144 41628 3 0.00796178
8-24300007-A-C p.Glu25Ala missense ADAM7 1 83266 1.20097E-5 41633 0 NA
8-24300024-C-T p.Arg31Cys missense ADAM7 1 83276 1.20083E-5 41638 0 5.03525E-4
8-24300025-G-A p.Arg31His missense ADAM7 3 83270 3.60274E-5 41635 0 6.37227E-5
8-24300035-G-T p.Lys34Asn missense ADAM7 89 83258 0.00106897 41629 1 0.00956697
8-24300038-T-A p.Leu35Leu synonymous ADAM7 519 83262 0.00623334 41631 5 0.00449073
8-24300041-T-C p.Pro36Pro synonymous ADAM7 721 83262 0.00865941 41631 11 0.0422961
8-24300053-G-T p.Lys40Asn missense ADAM7 1 83256 1.20111E-5 41628 0 NA
8-24300060-A-G p.Thr43Ala missense ADAM7 2 83256 2.40223E-5 41628 0 1.64737E-5
8-24300065-A-C p.Gly44Gly synonymous ADAM7 2 83246 2.40252E-5 41623 0 NA
8-24300067-A-G p.His45Arg missense ADAM7 1 83248 1.20123E-5 41624 0 0.00100705
8-24300071-C-A p.Thr46Thr synonymous ADAM7 37 83244 4.44476E-4 41622 0 0.00111479
8-24300080-T-C p.Asp49Asp synonymous ADAM7 1 83212 1.20175E-5 41606 0 NA
8-24300087-C-T p.Leu52Leu splice_region+synonymous ADAM7 1 83174 1.2023E-5 41587 0 8.23805E-6
8-24300088-T-C p.Leu52Pro missense+splice_region ADAM7 1 83166 1.20241E-5 41583 0 NA
8-24304690-C-CT c.157-9_157-8insT splice_region ADAM7 1 80712 1.23897E-5 40356 0 NA
8-24304697-A-T c.157-2A>T splice_acceptor ADAM7 8 80986 9.87825E-5 40493 0 6.39264E-5
8-24304703-C-T p.Thr54Met missense ADAM7 13 81334 1.59835E-4 40667 0 6.25E-4
8-24304704-G-T p.Thr54Thr synonymous ADAM7 13 81408 1.59689E-4 40704 0 0.0025
8-24304707-TGAA-T p.Glu58del conservative_inframe_deletion ADAM7 24 81612 2.94074E-4 40806 0 2.87228E-4
8-24304707-T-C p.Tyr55Tyr synonymous ADAM7 5 81612 6.12655E-5 40806 0 1.30476E-5
8-24304714-G-A p.Glu58Lys missense ADAM7 1 81830 1.22205E-5 40915 0 NA
8-24304717-T-C p.Leu59Leu synonymous ADAM7 1 81862 1.22157E-5 40931 0 1.59591E-4
8-24304719-G-T p.Leu59Phe missense ADAM7 1 81894 1.22109E-5 40947 0 NA
8-24304719-G-A p.Leu59Leu synonymous ADAM7 1 81894 1.22109E-5 40947 0 8.61052E-6
8-24304722-G-C p.Leu60Phe missense ADAM7 1 81928 1.22058E-5 40964 0 3.19285E-5
8-24304726-G-A p.Glu62Lys missense ADAM7 1 81988 1.21969E-5 40994 0 NA
8-24304732-A-G p.Lys64Glu missense ADAM7 6 82088 7.30923E-5 41044 0 6.37471E-5
8-24304740-T-C p.Asn66Asn synonymous ADAM7 2 81992 2.43926E-5 40996 1 NA
8-24304754-T-C p.Val71Ala missense ADAM7 27 81660 3.30639E-4 40830 0 6.0498E-4
8-24304755-C-T p.Val71Val synonymous ADAM7 1 81612 1.22531E-5 40806 0 NA
8-24304756-C-T p.Leu72Phe missense ADAM7 2 81588 2.45134E-5 40794 0 1.76442E-5
8-24304761-T-C p.His73His synonymous ADAM7 26 81424 3.19316E-4 40712 0 0.00188917
8-24304782-T-C c.233+7T>C splice_region ADAM7 1 80634 1.24017E-5 40317 0 3.1837E-5
8-24321397-A-T p.Glu79Val missense+splice_region ADAM7 26 83140 3.12726E-4 41570 0 4.14382E-4
8-24321406-G-T p.Gly82Val missense ADAM7 1 83172 1.20233E-5 41586 0 3.98029E-6
8-24321411-A-G p.Asn84Asp missense ADAM7 1 83192 1.20204E-5 41596 0 3.97937E-6
8-24321425-A-G p.Thr88Thr synonymous ADAM7 3 83224 3.60473E-5 41612 0 NA
8-24321426-T-G p.Phe89Val missense ADAM7 1 83220 1.20163E-5 41610 0 3.18674E-5
8-24321448-C-T p.Ala96Val missense ADAM7 2 83174 2.4046E-5 41587 0 6.37024E-5
8-24321449-G-A p.Ala96Ala synonymous ADAM7 5 83172 6.01164E-5 41586 0 6.36983E-5
8-24321462-C-A p.Pro101Thr missense ADAM7 2 83128 2.40593E-5 41564 0 NA
8-24321463-C-T p.Pro101Leu missense ADAM7 3 83122 3.60915E-5 41561 0 NA
8-24321465-C-T p.Gln102* stop_gained ADAM7 1 83108 1.20325E-5 41554 0 NA
8-24321471-A-G p.Met104Val missense+splice_region ADAM7 1 83102 1.20334E-5 41551 0 8.24797E-6
8-24321475-T-G c.312+2T>G splice_donor ADAM7 2 83082 2.40726E-5 41541 0 3.29924E-5
8-24321478-C-T c.312+5C>T splice_region ADAM7 15 83048 1.80618E-4 41524 0 3.18431E-5
8-24321479-T-G c.312+6T>G splice_region ADAM7 1 83050 1.20409E-5 41525 0 NA
8-24323214-T-A p.Asp105Glu missense+splice_region ADAM7 1 82236 1.21601E-5 41118 0 NA
8-24323219-G-A p.Cys107Tyr missense ADAM7 12 82342 1.45734E-4 41171 0 5.73906E-4
8-24323236-A-G p.Ile113Val missense ADAM7 3 82690 3.62801E-5 41345 0 8.28624E-6
8-24323237-T-C p.Ile113Thr missense ADAM7 5 82702 6.0458E-5 41351 0 6.25E-4
8-24323244-C-T p.His115His synonymous ADAM7 91 82734 0.00109991 41367 0 0.0027406
8-24323251-G-A p.Asp118Asn missense ADAM7 128 82786 0.00154616 41393 0 0.00296424
8-24323254-T-C p.Ser119Pro missense ADAM7 5 82784 6.03981E-5 41392 0 1.82083E-4
8-24323261-C-T p.Ala121Val missense ADAM7 1 82812 1.20755E-5 41406 0 8.00506E-6
8-24323272-A-G p.Thr125Ala missense ADAM7 1 82826 1.20735E-5 41413 0 3.18552E-5
8-24323274-G-A p.Thr125Thr synonymous ADAM7 14 82790 1.69103E-4 41395 0 4.38989E-4
8-24323277-T-C p.Cys126Cys synonymous ADAM7 2 82786 2.41587E-5 41393 0 4.02317E-6
8-24323290-T-C c.389+2T>C splice_donor ADAM7 1 82688 1.20937E-5 41344 0 9.5584E-5
8-24323293-T-C c.389+5T>C splice_region ADAM7 4 82360 4.85673E-5 41180 0 1.8323E-4
8-24324304-T-G c.390-8T>G splice_region ADAM7 1 83156 1.20256E-5 41578 0 4.07322E-6
8-24324306-C-T c.390-6C>T splice_region ADAM7 1 83160 1.2025E-5 41580 0 NA
8-24324312-G-T p.Arg130Ser missense+splice_region ADAM7 1 83174 1.2023E-5 41587 0 1.66511E-5
8-24324316-T-A p.Phe132Ile missense ADAM7 2 83190 2.40414E-5 41595 0 NA
8-24324319-T-C p.Phe133Leu missense ADAM7 32 83202 3.84606E-4 41601 0 6.05134E-4
8-24324330-C-T p.Asn136Asn synonymous ADAM7 6 83210 7.21067E-5 41605 0 6.25E-4
8-24324331-G-T p.Asp137Tyr missense ADAM7 4 83214 4.80688E-5 41607 0 3.18593E-5
8-24324342-C-T p.Tyr140Tyr synonymous ADAM7 3 83236 3.60421E-5 41618 0 3.18654E-5
8-24324344-T-G p.Leu141Arg missense ADAM7 1 83244 1.20129E-5 41622 0 NA
8-24324347-T-C p.Ile142Thr missense ADAM7 11 83248 1.32135E-4 41624 0 6.37105E-5
8-24324361-T-C p.Tyr147His missense ADAM7 1 83244 1.20129E-5 41622 0 3.97943E-6
8-24324379-C-T p.His153Tyr missense ADAM7 2 83242 2.40263E-5 41621 0 NA
8-24324382-T-A p.Leu154Met missense ADAM7 1 83248 1.20123E-5 41624 0 NA
8-24324387-G-A p.Val155Val synonymous ADAM7 1 83236 1.2014E-5 41618 0 NA
8-24324390-C-T p.Phe156Phe synonymous ADAM7 1 83246 1.20126E-5 41623 0 8.23995E-6
8-24324399-C-A p.Asn159Lys missense ADAM7 1 83244 1.20129E-5 41622 0 NA
8-24324402-G-T p.Leu160Leu synonymous ADAM7 2 83240 2.40269E-5 41620 0 7.95608E-6
8-24324410-C-T p.Pro163Leu missense ADAM7 3 83232 3.60438E-5 41616 0 1.48336E-4
8-24324437-A-T p.Glu172Val missense ADAM7 2 83200 2.40385E-5 41600 0 NA
8-24324439-C-A p.Leu173Ile missense ADAM7 2 83194 2.40402E-5 41597 0 NA
8-24324457-A-C p.Thr179Pro missense ADAM7 1 83144 1.20273E-5 41572 0 8.25219E-6
8-24324465-A-T p.Pro181Pro synonymous ADAM7 1 83116 1.20314E-5 41558 0 NA
8-24324472-A-T p.Asn184Tyr missense ADAM7 2 83092 2.40697E-5 41546 0 1.65371E-5
8-24324472-A-G p.Asn184Asp missense ADAM7 1 83092 1.20349E-5 41546 0 NA
8-24324483-AG-A p.Glu188fs frameshift ADAM7 1 82994 1.20491E-5 41497 0 6.37105E-5
8-24324488-A-T p.Asp189Val missense ADAM7 1 82910 1.20613E-5 41455 0 NA
8-24324493-A-G p.Lys191Glu missense ADAM7 26 82842 3.1385E-4 41421 0 2.0758E-4
8-24324499-A-G p.Lys193Glu missense+splice_region ADAM7 2 82750 2.41692E-5 41375 0 7.99246E-6
8-24324502-GTGAGTACTTTATTATTATCTTTACCCCAAA-G p.Ser195_Met204del disruptive_inframe_deletion ADAM7 70 82668 8.46761E-4 41334 0 0.002156
8-24324507-T-C c.579+6T>C splice_region ADAM7 7 82556 8.47909E-5 41278 0 9.55657E-5
8-24324513-ATTAT-A p.Leu198fs frameshift ADAM7 1 82380 1.21389E-5 41190 0 8.0291E-6
8-24324524-T-A p.Leu201* stop_gained ADAM7 25 81890 3.05288E-4 40945 0 6.36983E-4
8-24324533-T-A p.Met204Lys missense ADAM7 1 81392 1.22862E-5 40696 0 NA
8-24324541-CTTTTA-C p.Leu208fs frameshift ADAM7 1 80436 1.24322E-5 40218 0 4.11695E-6
8-24324541-CT-C p.Leu208fs frameshift ADAM7 12 80436 1.49187E-4 40218 0 2.47017E-5
8-24324554-G-A p.Ter211Ter stop_retained ADAM7 28 78586 3.56298E-4 39293 0 6.05327E-4
8-24326289-G-T p.Asp197Tyr missense ADAM7 1 83032 1.20435E-5 41516 0 NA
8-24326300-T-C p.Tyr200Tyr synonymous ADAM7 1 83058 1.20398E-5 41529 0 NA
8-24326300-T-G p.Tyr200* stop_gained ADAM7 1 83058 1.20398E-5 41529 0 NA
8-24326310-T-C p.Phe204Leu missense ADAM7 1 83056 1.20401E-5 41528 0 NA
8-24326313-A-G p.Ile205Val missense ADAM7 97 83046 0.00116803 41523 0 0.00331379
8-24326318-T-C p.Val206Val synonymous ADAM7 1 83046 1.20415E-5 41523 0 NA
8-24326329-C-T p.Thr210Ile missense ADAM7 1 83008 1.2047E-5 41504 0 1.65706E-5
8-24333427-C-T c.-120C>T 5_prime_UTR_premature_start_codon_gain ADAM7 26 51990 5.00096E-4 25995 0 7.32811E-4
8-24333466-C-T c.-81C>T 5_prime_UTR_premature_start_codon_gain ADAM7 1 51924 1.92589E-5 25962 0 NA
8-24333494-C-T c.-53C>T splice_region ADAM7 1 51742 1.93267E-5 25871 0 NA
8-24333500-G-C c.-52+5G>C splice_region ADAM7 48 51650 9.29332E-4 25825 0 0.00133852
8-24333949-C-T p.Arg213Cys missense ADAM7 13 82416 1.57736E-4 41208 0 6.25E-4
8-24333950-G-A p.Arg213His missense ADAM7 1 82426 1.21321E-5 41213 0 3.18918E-5
8-24333952-A-T p.Arg214* stop_gained ADAM7 1 82512 1.21194E-5 41256 0 NA
8-24333956-A-G p.Asn215Ser missense ADAM7 1 82574 1.21103E-5 41287 0 NA
8-24333959-G-A p.Gly216Asp missense ADAM7 1 82638 1.2101E-5 41319 0 NA
8-24333961-C-T p.His217Tyr missense ADAM7 3 82648 3.62985E-5 41324 0 3.18857E-5
8-24333969-C-T p.His219His synonymous ADAM7 2 82718 2.41785E-5 41359 0 4.22479E-4
8-24333985-C-T p.Arg225* stop_gained ADAM7 5 82760 6.04157E-5 41380 0 9.5706E-5
8-24333985-C-G p.Arg225Gly missense ADAM7 2 82760 2.41663E-5 41380 0 1.65352E-5
8-24333986-G-A p.Arg225Gln missense ADAM7 1 82754 1.2084E-5 41377 0 7.97346E-6
8-24333991-T-C p.Trp227Arg missense ADAM7 1 82786 1.20793E-5 41393 0 0.00146562
8-24334009-G-T p.Val233Phe missense ADAM7 3 82744 3.62564E-5 41372 0 NA
8-24334013-A-G p.Asn234Ser missense ADAM7 2 82708 2.41815E-5 41354 0 3.30748E-5
8-24334022-G-T c.705+5G>T splice_region ADAM7 1 82624 1.2103E-5 41312 0 NA
8-24339662-A-C p.Lys238Thr missense ADAM7 1 82580 1.21095E-5 41290 0 NA
8-24339674-T-C p.Ile242Thr missense ADAM7 1 82694 1.20928E-5 41347 0 8.97924E-6
8-24339679-G-A p.Val244Met missense ADAM7 24599 81480 0.301902 40740 3959 0.343907
8-24339683-C-T p.Thr245Met missense ADAM7 5 82768 6.04098E-5 41384 1 8.67762E-6
8-24339684-G-A p.Thr245Thr synonymous ADAM7 36 82770 4.3494E-4 41385 0 7.0086E-4
8-24339691-G-A p.Gly248Ser missense ADAM7 1 82802 1.2077E-5 41401 0 NA
8-24339702-A-G p.Ile251Met missense ADAM7 1 82832 1.20726E-5 41416 0 NA
8-24339713-A-C p.Glu255Ala missense ADAM7 1 82866 1.20677E-5 41433 0 3.18492E-5
8-24339733-T-G p.Ser262Ala missense ADAM7 2 82868 2.41348E-5 41434 0 2.48686E-5
8-24339740-T-C p.Ile264Thr missense ADAM7 21 82896 2.53329E-4 41448 0 1.59297E-4
8-24339747-TAC-CAA p.ThrThr266ThrAsn missense ADAM7 1 82906 1.20619E-5 41453 0 NA
8-24339749-C-A p.Thr267Asn missense ADAM7 2 82890 2.41284E-5 41445 0 6.61901E-5
8-24339750-C-G p.Thr267Thr synonymous ADAM7 3 82894 3.61908E-5 41447 0 3.3094E-5
8-24339752-T-A p.Leu268* stop_gained ADAM7 1 82896 1.20633E-5 41448 0 NA
8-24339753-A-T p.Leu268Phe missense ADAM7 5 82896 6.03165E-5 41448 0 1.32323E-4
8-24339757-C-T p.Arg270Cys missense ADAM7 3 82852 3.62091E-5 41426 0 1.2401E-4
8-24339758-G-A p.Arg270His missense ADAM7 13 82846 1.56918E-4 41423 0 0.00151057
8-24339759-T-C p.Arg270Arg synonymous ADAM7 1 82858 1.20688E-5 41429 0 NA
8-24339763-T-A p.Ser272Thr missense ADAM7 1 82850 1.207E-5 41425 0 NA
8-24339769-T-C p.Trp274Arg missense ADAM7 1 82848 1.20703E-5 41424 0 4.02036E-6
8-24339771-G-T p.Trp274Cys missense ADAM7 1 82840 1.20715E-5 41420 0 NA
8-24339772-CA-C p.Glu276fs frameshift ADAM7 3 82848 3.62109E-5 41424 0 4.02901E-6
8-24339791-C-T p.Thr281Ile missense ADAM7 1 82834 1.20723E-5 41417 0 8.25696E-6
8-24339791-C-A p.Thr281Lys missense ADAM7 2 82834 2.41447E-5 41417 0 NA
8-24339793-C-T p.Arg282Trp missense ADAM7 16 82810 1.93213E-4 41405 0 1.59479E-4
8-24339794-G-A p.Arg282Gln missense ADAM7 4 82800 4.83092E-5 41400 0 3.18735E-5
8-24339806-A-G p.Asp286Gly missense ADAM7 1 82806 1.20764E-5 41403 0 NA
8-24339810-T-A p.His287Gln missense ADAM7 1 82846 1.20706E-5 41423 0 NA
8-24339814-G-A p.Val289Ile missense ADAM7 3 82850 3.621E-5 41425 0 6.25E-4
8-24339824-G-T p.Ser292Ile missense+splice_region ADAM7 34 82832 4.10469E-4 41416 0 5.2841E-4
8-24342785-C-G c.876-5C>G splice_region ADAM7 6 82830 7.24375E-5 41415 0 6.37674E-5
8-24342787-T-C c.876-3T>C splice_region ADAM7 2 82832 2.41453E-5 41416 0 3.18451E-5
8-24342793-G-A p.Gly293Gly synonymous ADAM7 1 82874 1.20665E-5 41437 0 NA
8-24342809-C-G p.His299Asp missense ADAM7 1 82914 1.20607E-5 41457 0 NA
8-24342812-G-A p.Val300Met missense ADAM7 57 82924 6.87376E-4 41462 0 0.00124212
8-24342819-G-C p.Gly302Ala missense ADAM7 1 82946 1.2056E-5 41473 0 NA
8-24342828-A-T p.Tyr305Phe missense ADAM7 1 82956 1.20546E-5 41478 0 NA
8-24342834-G-T p.Gly307Val missense ADAM7 1 82958 1.20543E-5 41479 0 NA
8-24342836-G-A p.Gly308Ser missense ADAM7 1 82954 1.20549E-5 41477 0 1.19674E-5
8-24342855-A-AT p.Ser315fs frameshift ADAM7 38 82914 4.58306E-4 41457 0 2.51118E-4
8-24342867-T-C p.Ile318Thr missense ADAM7 1 82832 1.20726E-5 41416 0 3.99233E-6
8-24342880-C-G c.960+6C>G splice_region ADAM7 1 82724 1.20884E-5 41362 0 6.37064E-5
8-24344695-A-T c.961-5A>T splice_region ADAM7 1 82704 1.20913E-5 41352 0 6.36821E-5
8-24344697-C-A c.961-3C>A splice_region ADAM7 1 82716 1.20896E-5 41358 0 8.67077E-6
8-24344700-G-A p.Asp321Asn missense+splice_region ADAM7 1 82736 1.20866E-5 41368 0 7.99361E-6
8-24344709-C-T p.Pro324Ser missense ADAM7 1 82814 1.20753E-5 41407 0 3.99288E-6
8-24344710-C-G p.Pro324Arg missense ADAM7 1 82816 1.2075E-5 41408 0 NA
8-24344721-A-G p.Ile328Val missense ADAM7 1 82864 1.2068E-5 41432 0 1.19664E-5
8-24344725-T-A p.Ile329Asn missense ADAM7 1 82878 1.20659E-5 41439 0 8.34307E-6
8-24344737-T-A p.Met333Lys missense ADAM7 2 82938 2.41144E-5 41469 0 3.98743E-6
8-24344739-G-T p.Ala334Ser missense ADAM7 3 82928 3.6176E-5 41464 0 7.47682E-5
8-24344777-C-G p.Asp346Glu missense ADAM7 1 82956 1.20546E-5 41478 0 3.18532E-5
8-24344777-C-T p.Asp346Asp synonymous ADAM7 2 82956 2.41092E-5 41478 0 0.00100705
8-24344778-G-A p.Glu347Lys missense ADAM7 1 82962 1.20537E-5 41481 0 3.18573E-5
8-24344800-C-T p.Ser354Leu missense ADAM7 1 82968 1.20528E-5 41484 0 NA
8-24344810-C-T p.Cys357Cys synonymous ADAM7 3 82950 3.61664E-5 41475 0 3.33028E-5
8-24344811-G-A p.Val358Met missense ADAM7 263 82948 0.00317066 41474 0 0.00755287
8-24344815-T-A p.Met359Lys missense ADAM7 1 82956 1.20546E-5 41478 0 NA
8-24344833-G-A c.1091+3G>A splice_region ADAM7 1 82864 1.2068E-5 41432 0 NA
8-24344834-A-T c.1091+4A>T splice_region ADAM7 1 82858 1.20688E-5 41429 0 NA
8-24346664-A-G c.1092-8A>G splice_region ADAM7 2 82374 2.42795E-5 41187 0 1.27364E-4
8-24346682-C-T p.Leu368Leu synonymous ADAM7 1 82576 1.21101E-5 41288 0 6.84882E-5
8-24346692-G-A p.Ser371Asn missense ADAM7 1 82638 1.2101E-5 41319 0 8.40124E-6
8-24346698-G-C p.Cys373Ser missense ADAM7 2 82628 2.42049E-5 41314 0 4.02771E-5
8-24346701-G-T p.Ser374Ile missense ADAM7 1 82656 1.20983E-5 41328 0 2.00903E-5
8-24346706-A-T p.Asn376Tyr missense ADAM7 1 82670 1.20963E-5 41335 0 NA
8-24346707-A-T p.Asn376Ile missense ADAM7 2 82660 2.41955E-5 41330 0 3.32486E-5
8-24346724-TTGAAGGATTATAAGCCAACATGCA-T p.Lys383_Met390del conservative_inframe_deletion ADAM7 1 82690 1.20934E-5 41345 0 8.27513E-6
8-24346736-A-C p.Lys386Gln missense ADAM7 1 82694 1.20928E-5 41347 0 8.26966E-6
8-24346743-C-T p.Thr388Ile missense ADAM7 9 82706 1.08819E-4 41353 0 0.00125
8-24346751-C-T p.Leu391Phe missense ADAM7 4 82712 4.83606E-5 41356 0 NA
8-24346770-A-G p.Tyr397Cys missense ADAM7 2 82670 2.41926E-5 41335 0 8.27527E-6
8-24346794-G-T p.Cys405Phe missense ADAM7 1 82740 1.20861E-5 41370 0 1.65912E-5
8-24346823-G-A p.Glu415Lys missense ADAM7 11 82772 1.32895E-4 41386 0 4.21003E-5
8-24346828-T-C p.Cys416Cys synonymous ADAM7 2 82770 2.41633E-5 41385 0 1.2039E-5
8-24346829-G-A p.Asp417Asn missense ADAM7 1 82774 1.20811E-5 41387 0 3.18552E-5
8-24346840-T-C p.Pro420Pro synonymous ADAM7 1645 82634 0.0199071 41317 28 0.0176234
8-24348308-C-T c.1267-4C>T splice_region ADAM7 1 82398 1.21362E-5 41199 0 8.25682E-6
8-24348310-A-G c.1267-2A>G splice_acceptor ADAM7 1 82416 1.21336E-5 41208 0 NA
8-24348329-C-T p.Cys428Cys synonymous ADAM7 6 82696 7.25549E-5 41348 0 1.27494E-4
8-24348367-C-T p.Thr441Ile missense ADAM7 21 82596 2.5425E-4 41298 0 3.5155E-4
8-24348370-G-A p.Cys442Tyr missense ADAM7 1 82574 1.21103E-5 41287 0 NA
8-24348373-CAGA-C p.Glu444del disruptive_inframe_deletion ADAM7 1 82574 1.21103E-5 41287 0 3.9847E-6
8-24348376-A-G p.Glu444Gly missense ADAM7 1 82534 1.21162E-5 41267 0 3.9847E-6
8-24348390-G-A p.Glu449Lys missense ADAM7 32 82308 3.88784E-4 41154 0 6.14648E-4
8-24348397-G-T p.Cys451Phe missense ADAM7 6 82086 7.30941E-5 41043 0 1.20074E-5
8-24349405-TTCC-T c.1357-8_1357-6delCTC splice_region ADAM7 1 82174 1.21693E-5 41087 0 NA
8-24349417-T-C p.Ile453Thr missense+splice_region ADAM7 1593 82254 0.0193668 41127 72 0.0374686
8-24349437-T-C p.Cys460Arg missense ADAM7 1 82542 1.2115E-5 41271 0 NA
8-24349439-C-G p.Cys460Trp missense ADAM7 1 82540 1.21153E-5 41270 0 NA
8-24349444-C-T p.Pro462Leu missense ADAM7 4 82510 4.8479E-5 41255 0 9.55536E-5
8-24349445-G-A p.Pro462Pro synonymous ADAM7 10 82516 1.21189E-4 41258 0 1.91119E-4
8-24349447-C-T p.Ala463Val missense ADAM7 1 82542 1.2115E-5 41271 0 3.18512E-5
8-24349448-G-A p.Ala463Ala synonymous ADAM7 2 82538 2.42313E-5 41269 0 6.37105E-5
8-24349474-TG-T p.Met472fs frameshift ADAM7 1 82550 1.21139E-5 41275 0 NA
8-24349476-TG-T p.Cys473fs frameshift ADAM7 1 82536 1.21159E-5 41268 0 NA
8-24349477-G-T p.Cys473Phe missense ADAM7 1 82524 1.21177E-5 41262 0 NA
8-24349481-T-C p.Thr474Thr synonymous ADAM7 1 82516 1.21189E-5 41258 0 8.27267E-6
8-24349490-G-A p.Ser477Ser synonymous ADAM7 3 82486 3.63698E-5 41243 0 3.30557E-5
8-24349492-C-T p.Pro478Leu missense ADAM7 1 82522 1.2118E-5 41261 0 NA
8-24349515-A-G p.Arg486Gly missense ADAM7 2 82582 2.42184E-5 41291 0 3.1841E-5
8-24349516-G-A p.Arg486Lys missense ADAM7 2 82570 2.42219E-5 41285 0 8.25001E-6
8-24349522-A-G p.Asn488Ser missense ADAM7 1 82574 1.21103E-5 41287 0 NA
8-24349523-T-C p.Asn488Asn synonymous ADAM7 2 82570 2.42219E-5 41285 0 9.89903E-5
8-24349524-G-A p.Gly489Arg missense ADAM7 1 82582 1.21092E-5 41291 0 8.24906E-6
8-24349534-G-A p.Cys492Tyr missense ADAM7 10 82582 1.21092E-4 41291 0 1.03653E-4
8-24349535-C-T p.Cys492Cys synonymous ADAM7 1 82588 1.21083E-5 41294 0 7.9727E-6
8-24349543-C-A p.Ser495* stop_gained ADAM7 1 82592 1.21077E-5 41296 0 NA
8-24349562-G-A p.Met501Ile missense ADAM7 30 82536 3.63478E-4 41268 0 5.73139E-4
8-24349578-C-T p.Arg507Cys missense ADAM7 1 82462 1.21268E-5 41231 0 3.18492E-5
8-24349579-G-A p.Arg507His missense ADAM7 3 82464 3.63795E-5 41232 0 3.18512E-5
8-24349579-G-T p.Arg507Leu missense ADAM7 1 82464 1.21265E-5 41232 0 5.59155E-5
8-24349585-A-G p.Asp509Gly missense ADAM7 4 82442 4.8519E-5 41221 0 3.18431E-5
8-24349589-G-C p.Gln510His missense ADAM7 1 82408 1.21347E-5 41204 0 NA
8-24349592-C-A p.Cys511* stop_gained ADAM7 1 82374 1.21398E-5 41187 0 3.18451E-5
8-24349592-C-T p.Cys511Cys synonymous ADAM7 1 82374 1.21398E-5 41187 0 NA
8-24349593-T-G p.Ser512Ala missense ADAM7 1 82376 1.21395E-5 41188 0 NA
8-24349610-T-C p.Asp517Asp splice_region+synonymous ADAM7 2 82124 2.43534E-5 41062 0 NA
8-24349612-G-T c.1552+1G>T splice_donor ADAM7 1 82054 1.21871E-5 41027 0 NA
8-24350014-TAG-T p.His523fs frameshift ADAM7 79 81654 9.67497E-4 40827 1 0.00162431
8-24350014-TAGAG-T p.Glu521fs frameshift ADAM7 9 81654 1.10221E-4 40827 0 5.81705E-5
8-24350020-G-A p.Ser522Asn missense ADAM7 1 81820 1.2222E-5 40910 0 3.18776E-5
8-24350028-A-G p.Ile525Val missense ADAM7 1 82048 1.2188E-5 41024 0 NA
8-24350052-G-GACCTTATTTTTCTAAT p.Gly533fs frameshift ADAM7 1 82500 1.21212E-5 41250 0 NA
8-24350052-G-A p.Gly533Arg missense ADAM7 4 82500 4.84848E-5 41250 0 5.04541E-4
8-24350054-A-T p.Gly533Gly synonymous ADAM7 1 82508 1.212E-5 41254 0 NA
8-24350063-T-A p.Phe536Leu missense ADAM7 1 82540 1.21153E-5 41270 0 NA
8-24350065-G-T p.Gly537Val missense ADAM7 19 82532 2.30214E-4 41266 0 0.003125
8-24350087-C-G p.Asn544Lys missense ADAM7 14 82420 1.69862E-4 41210 0 3.16003E-4
8-24350099-C-T p.Pro548Pro synonymous ADAM7 6 82258 7.29412E-5 41129 0 4.16597E-5
8-24350105-G-A p.Glu550Glu synonymous ADAM7 863 82150 0.0105052 41075 17 0.0200064
8-24350114-A-G c.1655+4A>G splice_region ADAM7 9 82020 1.09729E-4 41010 0 2.01206E-5
8-24350115-G-T c.1655+5G>T splice_region ADAM7 3 81966 3.66005E-5 40983 1 3.63928E-5
8-24350557-G-T p.Asp553Tyr missense+splice_region ADAM7 1 81644 1.22483E-5 40822 0 NA
8-24350560-G-A p.Val554Ile missense ADAM7 1 81762 1.22306E-5 40881 0 9.22526E-6
8-24350567-G-A p.Cys556Tyr missense ADAM7 20 82016 2.43855E-4 41008 0 3.50341E-4
8-24350582-G-A p.Cys561Tyr missense ADAM7 3 82394 3.64104E-5 41197 0 1.59266E-4
8-24350596-C-T p.Leu566Phe missense ADAM7 1 82496 1.21218E-5 41248 0 6.37024E-5
8-24350602-T-C p.Ser568Pro missense ADAM7 1 82550 1.21139E-5 41275 0 4.04911E-6
8-24350608-C-G p.Leu570Val missense ADAM7 6 82620 7.26216E-5 41310 0 6.25E-4
8-24350609-T-G p.Leu570Arg missense ADAM7 3 82632 3.63055E-5 41316 0 4.4209E-5
8-24350610-TG-T p.Gly571fs frameshift ADAM7 1 82630 1.21021E-5 41315 0 8.26952E-6
8-24350622-G-T p.Lys574Asn missense ADAM7 1 82640 1.21007E-5 41320 0 NA
8-24350623-A-G p.Thr575Ala missense ADAM7 2 82628 2.42049E-5 41314 0 NA
8-24350659-G-A p.Val587Ile missense ADAM7 1 82620 1.21036E-5 41310 0 NA
8-24350669-A-G p.Lys590Arg missense ADAM7 1 82624 1.2103E-5 41312 0 8.27198E-6
8-24350676-T-A p.Ile592Ile synonymous ADAM7 23 82608 2.78423E-4 41304 0 6.36862E-5
8-24350695-A-C p.Thr599Pro missense ADAM7 2 82508 2.42401E-5 41254 0 NA
8-24350703-T-C p.Ile601Ile synonymous ADAM7 1 82446 1.21292E-5 41223 0 8.40364E-6
8-24350714-C-T p.Ala605Val missense ADAM7 2 82300 2.43013E-5 41150 0 0.00100705
8-24350715-G-A p.Ala605Ala synonymous ADAM7 6554 82122 0.0798081 41061 289 0.093125
8-24350715-G-T p.Ala605Ala synonymous ADAM7 2 82292 2.43037E-5 41146 0 NA
8-24350728-T-A p.Cys610Ser missense ADAM7 1 82192 1.21666E-5 41096 0 NA
8-24350737-G-C p.Gly613Arg missense ADAM7 3 82042 3.65666E-5 41021 0 1.74749E-5
8-24350741-T-A p.Met614Lys missense+splice_region ADAM7 2 82004 2.43891E-5 41002 0 9.55718E-5
8-24350742-G-C p.Met614Ile missense+splice_region ADAM7 2 81950 2.44051E-5 40975 0 NA
8-24350744-T-A c.1842+2T>A splice_donor ADAM7 1 81900 1.221E-5 40950 0 4.43035E-5
8-24356746-T-C c.1843-3T>C splice_region ADAM7 1527 82036 0.0186138 41018 60 0.0383341
8-24356751-G-C p.Val615Val splice_region+synonymous ADAM7 164 82346 0.0019916 41173 0 0.00229431
8-24356756-A-G p.Asn617Ser missense ADAM7 1 82490 1.21227E-5 41245 0 8.30703E-6
8-24356775-C-T p.Asn623Asn synonymous ADAM7 1 82682 1.20945E-5 41341 0 4.08684E-6
8-24356776-A-G p.Met624Val missense ADAM7 1 82690 1.20934E-5 41345 0 8.2861E-6
8-24356785-G-A p.Val627Ile missense ADAM7 3 82662 3.62924E-5 41331 0 0.00100705
8-24356785-G-T p.Val627Phe missense ADAM7 1 82662 1.20975E-5 41331 0 4.06524E-6
8-24356788-T-C p.Tyr628His missense ADAM7 1 82668 1.20966E-5 41334 0 NA
8-24356801-A-C p.Asn632Thr missense ADAM7 2 82634 2.42031E-5 41317 0 NA
8-24356805-C-T p.Cys633Cys synonymous ADAM7 1 82584 1.21089E-5 41292 0 NA
8-24356818-A-C p.Asn638His missense ADAM7 27759 81948 0.338739 40974 4873 0.362034
8-24356822-A-G p.Glu639Gly missense ADAM7 2 82410 2.42689E-5 41205 0 4.16223E-5
8-24356824-A-C p.Asn640His missense ADAM7 2 82400 2.42718E-5 41200 0 1.24571E-5
8-24356829-T-G p.Pro641Pro splice_region+synonymous ADAM7 1 82322 1.21474E-5 41161 0 3.18552E-5
8-24356835-A-G c.1923+6A>G splice_region ADAM7 2 82276 2.43084E-5 41138 0 1.67457E-5
8-24357684-C-T c.1924-7C>T splice_region ADAM7 1 82682 1.20945E-5 41341 0 8.1009E-6
8-24357685-T-G c.1924-6T>G splice_region ADAM7 2 82692 2.41861E-5 41346 0 4.04236E-6
8-24357702-C-T p.His645His synonymous ADAM7 1 82778 1.20805E-5 41389 0 5.04541E-4
8-24357708-C-T p.Leu647Leu synonymous ADAM7 1 82800 1.20773E-5 41400 0 NA
8-24357709-C-T p.Gln648* stop_gained ADAM7 6 82808 7.24568E-5 41404 0 6.25E-4
8-24357716-A-T p.His650Leu missense ADAM7 26 82828 3.13904E-4 41414 0 0.00302419
8-24357723-G-T p.Glu652Asp missense ADAM7 23 82836 2.77657E-4 41418 0 3.82214E-4
8-24357725-A-G p.Glu653Gly missense ADAM7 3 82834 3.6217E-5 41417 0 3.18532E-5
8-24357728-G-A p.Gly654Glu missense ADAM7 1 82834 1.20723E-5 41417 0 NA
8-24357739-G-A p.Val658Ile missense ADAM7 2 82804 2.41534E-5 41402 0 1.99952E-5
8-24357761-A-G p.His665Arg missense ADAM7 1 82744 1.20855E-5 41372 0 7.9825E-6
8-24357776-A-G c.2002+7A>G splice_region ADAM7 7 82548 8.47991E-5 41274 0 2.81332E-5
8-24358310-C-T p.Thr670Thr synonymous ADAM7 11 83202 1.32208E-4 41601 0 0.00100705
8-24358326-C-T p.Leu676Phe missense ADAM7 10 83224 1.20158E-4 41612 0 5.03525E-4
8-24358327-T-C p.Leu676Pro missense ADAM7 1 83230 1.20149E-5 41615 0 8.25232E-6
8-24358336-T-C p.Val679Ala missense ADAM7 1 83224 1.20158E-5 41612 0 NA
8-24358339-T-C p.Ile680Thr missense ADAM7 2 83218 2.40333E-5 41609 0 3.1839E-5
8-24358341-G-A p.Val681Ile missense ADAM7 3 83214 3.60516E-5 41607 0 3.18451E-5
8-24358343-C-T p.Val681Val synonymous ADAM7 3 83212 3.60525E-5 41606 0 2.47578E-5
8-24358344-G-A p.Gly682Ser missense ADAM7 4 83212 4.807E-5 41606 0 9.55292E-5
8-24358349-C-T p.Ile683Ile synonymous ADAM7 3 83204 3.6056E-5 41602 0 1.9916E-5
8-24358350-G-A p.Gly684Arg missense ADAM7 4 83204 4.80746E-5 41602 0 8.2526E-5
8-24358351-G-T p.Gly684Val missense ADAM7 2 83206 2.40367E-5 41603 0 2.47582E-5
8-24358363-T-C p.Leu688Pro missense ADAM7 1 83186 1.20213E-5 41593 0 8.25382E-6
8-24358366-T-C p.Leu689Ser missense ADAM7 1 83182 1.20218E-5 41591 0 3.9841E-6
8-24358372-G-A p.Arg691His missense ADAM7 54 83160 6.49351E-4 41580 0 3.39378E-4
8-24358377-C-T p.Arg693* stop_gained ADAM7 4 83142 4.81105E-5 41571 0 8.25791E-6
8-24358378-G-A p.Arg693Gln missense ADAM7 33 83144 3.96902E-4 41572 0 6.6896E-4
8-24358384-G-A p.Cys695Tyr missense ADAM7 32 83118 3.84995E-4 41559 0 6.37024E-4
8-24358386-A-G p.Ile696Val missense ADAM7 5 83112 6.01598E-5 41556 0 6.25E-4
8-24358985-G-T c.2109-5G>T splice_region ADAM7 1 82992 1.20494E-5 41496 0 NA
8-24358990-C-T p.Ser703Ser splice_region+synonymous ADAM7 1 83022 1.2045E-5 41511 0 1.24338E-5
8-24359018-A-T p.Asn713Tyr missense ADAM7 2 83150 2.40529E-5 41575 0 NA
8-24359025-G-T p.Gly715Val missense ADAM7 31 83146 3.72838E-4 41573 0 6.37186E-4
8-24359032-T-C p.Phe717Phe synonymous ADAM7 1 83158 1.20253E-5 41579 0 NA
8-24359052-G-A p.Arg724Lys missense ADAM7 1 83070 1.2038E-5 41535 0 1.22641E-5
8-24359059-G-C p.Glu726Asp missense ADAM7 2 83046 2.4083E-5 41523 0 8.25859E-6
8-24359059-G-A p.Glu726Glu synonymous ADAM7 3 83046 3.61246E-5 41523 0 NA
8-24359066-C-T p.Leu729Leu synonymous ADAM7 2 82988 2.40999E-5 41494 0 NA
8-24359067-T-A p.Leu729Gln missense ADAM7 1 82982 1.20508E-5 41491 0 NA
8-24359068-G-A p.Leu729Leu synonymous ADAM7 24628 81416 0.302496 40708 3961 0.352823
8-24359081-T-A p.Phe734Ile missense ADAM7 2 82798 2.41552E-5 41399 0 NA
8-24359085-T-C p.Leu735Pro missense ADAM7 856 82692 0.0103517 41346 14 0.0200728
8-24363599-A-C c.2209-5A>C splice_region ADAM7 873 76922 0.0113492 38461 6 0.0106865
8-24363603-G-C c.2209-1G>C splice_acceptor ADAM7 1 76978 1.29907E-5 38489 0 NA
8-24363611-C-G p.Thr739Ser missense ADAM7 3 77038 3.89418E-5 38519 0 3.18613E-5
8-24363616-G-C p.Glu741Gln missense ADAM7 1 77062 1.29766E-5 38531 0 NA
8-24363623-T-C p.Leu743Ser missense ADAM7 3 77092 3.89145E-5 38546 0 NA
8-24363630-C-A p.Ser745Arg missense ADAM7 10 77118 1.29671E-4 38559 0 2.7134E-4
8-24363641-G-GT p.Ser751fs frameshift ADAM7 1 77110 1.29685E-5 38555 0 NA
8-24363646-T-C p.Ser751Pro missense ADAM7 4 77130 5.18605E-5 38565 0 9.55657E-5
8-24363651-T-C p.Ser752Ser synonymous ADAM7 2 77100 2.59403E-5 38550 0 NA
8-24363653-C-A p.Pro753His missense ADAM7 2 77100 2.59403E-5 38550 0 NA
8-24363657-C-G p.His754Gln missense ADAM7 1 77072 1.29749E-5 38536 0 NA
8-24363658-T-C p.Tyr755His missense ADAM7 1 77060 1.29769E-5 38530 0 NA
8-24363660-C-T p.Tyr755Tyr synonymous ADAM7 1 77072 1.29749E-5 38536 0 9.55718E-5
8-24363661-A-G p.Ile756Val missense ADAM7 3 77072 3.89246E-5 38536 0 1.27632E-4
8-24363671-T-C c.2274+2T>C splice_donor ADAM7 4 77008 5.19427E-5 38504 0 9.55657E-5
8-24363674-G-A c.2274+5G>A splice_region ADAM7 1559 76936 0.0202636 38468 64 0.0384763
8-24364989-A-G c.2209-4A>G splice_region ADAM7 1 82860 1.20685E-5 41430 0 2.48624E-5
8-24364990-T-C c.2209-3T>C splice_region ADAM7 6 82876 7.23973E-5 41438 0 6.38152E-5
8-24364997-C-T p.Pro738Leu missense ADAM7 57 82950 6.87161E-4 41475 1 0.0015121
8-24365000-C-A p.Ala739Glu missense ADAM7 1 82970 1.20525E-5 41485 0 NA
8-24365003-G-A p.Ser740Asn missense ADAM7 4 82976 4.82067E-5 41488 0 4.45973E-4
8-24365023-G-A p.Ala747Thr missense ADAM7 1 83040 1.20424E-5 41520 0 6.37481E-5
8-24365047-T-A p.Ter755Argext*? stop_lost ADAM7 4 83050 4.81638E-5 41525 0 4.38188E-5
8-24365053-G-A c.2264+5G>A splice_region ADAM7 1 83048 1.20412E-5 41524 0 7.96902E-6
8-24367059-G-C c.*1000G>C splice_region ADAM7 1 24214 4.12984E-5 12107 0 NA
8-24384260-T-C c.1525-8T>C splice_region ADAM7 2 51368 3.89347E-5 25684 0 6.25E-4
8-24384273-C-T p.Leu510Leu synonymous ADAM7 8 51496 1.55352E-4 25748 0 9.0876E-5