Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-18473972-C-T c.-259C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL1 1 16138 6.19655E-5 8069 0 NA
9-18474039-C-T c.-192C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL1 8 41408 1.93199E-4 20704 0 9.55657E-5
9-18474055-C-G c.-176C>G 5_prime_UTR_premature_start_codon_gain ADAMTSL1 4 48392 8.26583E-5 24196 0 NA
9-18474090-C-T c.-141C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL1 4 56510 7.07839E-5 28255 0 2.86935E-4
9-18474102-G-A c.-129G>A 5_prime_UTR_premature_start_codon_gain ADAMTSL1 1 63258 1.58083E-5 31629 0 NA
9-18474112-C-T c.-119C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL1 1 66892 1.49495E-5 33446 0 NA
9-18474135-C-T c.-96C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL1 1 75538 1.32384E-5 37769 0 6.37633E-5
9-18474140-G-C c.-91G>C 5_prime_UTR_premature_start_codon_gain ADAMTSL1 1 77270 1.29416E-5 38635 0 NA
9-18474244-G-A p.Arg5His missense ADAMTSL1 1 82838 1.20718E-5 41419 0 NA
9-18474246-C-T p.Arg6Trp missense ADAMTSL1 1 82838 1.20718E-5 41419 0 1.64837E-5
9-18474247-G-C p.Arg6Pro missense ADAMTSL1 1 82806 1.20764E-5 41403 0 5.1792E-5
9-18474270-C-T p.Leu14Phe missense ADAMTSL1 1 82766 1.20823E-5 41383 0 NA
9-18474292-T-C p.Leu21Pro missense+splice_region ADAMTSL1 1 82306 1.21498E-5 41153 0 8.23981E-6
9-18504821-TCA-T c.64-5_64-4delCA splice_region ADAMTSL1 1 83064 1.20389E-5 41532 0 NA
9-18504825-A-T c.64-2A>T splice_acceptor ADAMTSL1 1 83046 1.20415E-5 41523 0 3.98333E-6
9-18504827-A-G p.Ser22Gly missense+splice_region ADAMTSL1 1 83028 1.20441E-5 41514 0 NA
9-18504831-C-T p.Ser23Phe missense ADAMTSL1 1 82970 1.20525E-5 41485 0 NA
9-18504835-G-C p.Arg24Ser missense ADAMTSL1 2 82926 2.41179E-5 41463 0 5.03525E-4
9-18504839-G-A p.Ala26Thr missense ADAMTSL1 1 82828 1.20732E-5 41414 0 NA
9-18504843-G-A p.Arg27His missense ADAMTSL1 2 82764 2.41651E-5 41382 0 7.97474E-6
9-18504844-C-T p.Arg27Arg synonymous ADAMTSL1 1 82772 1.20814E-5 41386 0 NA
9-18504848-G-A p.Glu29Lys missense ADAMTSL1 2 82726 2.41762E-5 41363 0 1.59278E-5
9-18504854-G-A p.Asp31Asn missense ADAMTSL1 6 82554 7.26797E-5 41277 0 7.96546E-5
9-18504857-C-T p.Arg32Trp missense ADAMTSL1 1 82466 1.21262E-5 41233 0 1.65109E-5
9-18504858-G-C p.Arg32Pro missense ADAMTSL1 6 82408 7.28085E-5 41204 0 4.14326E-4
9-18504858-G-A p.Arg32Gln missense ADAMTSL1 7 82408 8.49432E-5 41204 0 5.61731E-4
9-18504859-G-A p.Arg32Arg synonymous ADAMTSL1 1 82368 1.21406E-5 41184 0 3.98254E-6
9-18504863-G-A p.Gly34Ser missense ADAMTSL1 2 82184 2.43356E-5 41092 0 3.98791E-6
9-18504866-C-G p.Leu35Val missense ADAMTSL1 107 82126 0.00130288 41063 1 0.00175115
9-18504867-T-C p.Leu35Pro missense ADAMTSL1 3 82120 3.65319E-5 41060 0 1.59402E-5
9-18504868-A-G p.Leu35Leu synonymous ADAMTSL1 628 82070 0.007652 41035 13 0.0155424
9-18504868-A-C p.Leu35Leu synonymous ADAMTSL1 2 82096 2.43617E-5 41048 0 NA
9-18504869-T-C p.Trp36Arg missense ADAMTSL1 3 82078 3.65506E-5 41039 0 6.25E-4
9-18504872-GA-TC p.Asp37Ser missense ADAMTSL1 1 81966 1.22002E-5 40983 0 NA
9-18504886-A-G p.Pro41Pro synonymous ADAMTSL1 4 81520 4.90677E-5 40760 0 6.25E-4
9-18504887-T-C p.Trp42Arg missense ADAMTSL1 1 81496 1.22705E-5 40748 0 8.25655E-6
9-18504891-G-C p.Ser43Thr missense ADAMTSL1 1 81442 1.22787E-5 40721 0 NA
9-18504904-C-T p.Arg47Arg synonymous ADAMTSL1 1 81126 1.23265E-5 40563 0 NA
9-18504911-G-A p.Gly50Arg missense ADAMTSL1 1 81038 1.23399E-5 40519 0 8.27212E-6
9-18504912-G-C p.Gly50Ala missense ADAMTSL1 1 81028 1.23414E-5 40514 0 4.01323E-6
9-18504916-T-A p.Gly51Gly synonymous ADAMTSL1 45563 79610 0.572328 39805 13082 0.612399
9-18504922-C-T p.Ala53Ala synonymous ADAMTSL1 2 81042 2.46786E-5 40521 0 4.02726E-5
9-18504931-TCTGAGGCGCTGC-T p.Arg58_Leu61del disruptive_inframe_deletion ADAMTSL1 2 81264 2.46111E-5 40632 0 8.10117E-6
9-18504946-G-A p.Leu61Leu synonymous ADAMTSL1 2 81636 2.4499E-5 40818 0 3.18512E-5
9-18504954-A-G p.Lys64Arg missense+splice_region ADAMTSL1 1 81820 1.2222E-5 40910 0 1.69466E-5
9-18533257-A-G p.Gly68Gly synonymous ADAMTSL1 456 81604 0.00558796 40802 11 0.0120133
9-18533259-G-C p.Arg69Thr missense ADAMTSL1 1 81624 1.22513E-5 40812 0 8.27157E-6
9-18533259-G-A p.Arg69Lys missense ADAMTSL1 1 81624 1.22513E-5 40812 0 NA
9-18533264-A-C p.Ile71Leu missense ADAMTSL1 3 81604 3.67629E-5 40802 0 NA
9-18533267-C-T p.Arg72* stop_gained ADAMTSL1 2 81470 2.45489E-5 40735 0 4.08868E-6
9-18533268-G-A p.Arg72Gln missense ADAMTSL1 7 81462 8.59296E-5 40731 0 6.25E-4
9-18533269-A-G p.Arg72Arg synonymous ADAMTSL1 2 81640 2.44978E-5 40820 0 4.13421E-5
9-18533272-C-T p.Tyr73Tyr synonymous ADAMTSL1 1 81644 1.22483E-5 40822 0 3.18878E-5
9-18533283-G-A p.Ser77Asn missense ADAMTSL1 2 81602 2.45092E-5 40801 0 6.37471E-5
9-18533285-A-G p.Asn78Asp missense ADAMTSL1 1 81592 1.22561E-5 40796 0 NA
9-18533287-T-C p.Asn78Asn synonymous ADAMTSL1 1 81566 1.226E-5 40783 0 1.2099E-5
9-18533297-A-G c.237+7A>G splice_region ADAMTSL1 2 81514 2.45357E-5 40757 0 2.48303E-5
9-18574028-G-T p.Asp80Tyr missense+splice_region ADAMTSL1 2 83120 2.40616E-5 41560 0 NA
9-18574036-A-G p.Pro82Pro synonymous ADAMTSL1 1 83114 1.20317E-5 41557 0 4.97298E-5
9-18574038-C-T p.Pro83Leu missense ADAMTSL1 2 83106 2.40657E-5 41553 0 3.5884E-5
9-18574040-G-C p.Glu84Gln missense ADAMTSL1 2 83116 2.40628E-5 41558 0 NA
9-18574047-G-A p.Gly86Asp missense ADAMTSL1 3 83134 3.60863E-5 41567 0 3.98457E-6
9-18574054-C-T p.Phe88Phe synonymous ADAMTSL1 1 83152 1.20262E-5 41576 0 NA
9-18574063-G-A p.Gln91Gln synonymous ADAMTSL1 2 83170 2.40471E-5 41585 0 1.99102E-5
9-18574071-C-T p.Ser94Leu missense ADAMTSL1 8 83170 9.61885E-5 41585 0 3.30422E-4
9-18574084-T-C p.Asp98Asp synonymous ADAMTSL1 1 83180 1.20221E-5 41590 0 2.47247E-5
9-18574085-G-A p.Val99Ile missense ADAMTSL1 5 83186 6.01063E-5 41593 0 5.76939E-5
9-18574095-A-C p.His102Pro missense ADAMTSL1 5 83202 6.00947E-5 41601 0 3.1839E-5
9-18574095-A-G p.His102Arg missense ADAMTSL1 1 83202 1.20189E-5 41601 0 1.23609E-4
9-18574097-G-A p.Gly103Ser missense ADAMTSL1 1 83196 1.20198E-5 41598 0 NA
9-18574098-G-C p.Gly103Ala missense ADAMTSL1 1 83194 1.20201E-5 41597 0 NA
9-18574098-G-A p.Gly103Asp missense ADAMTSL1 2 83194 2.40402E-5 41597 0 8.24049E-5
9-18574115-C-G p.Leu109Val missense ADAMTSL1 2 83196 2.40396E-5 41598 0 5.96929E-5
9-18574133-C-A p.Pro115Thr missense ADAMTSL1 3 83198 3.60586E-5 41599 0 5.17248E-5
9-18574135-T-C p.Pro115Pro synonymous ADAMTSL1 1 83202 1.20189E-5 41601 0 NA
9-18574136-G-A p.Asp116Asn missense ADAMTSL1 1 83202 1.20189E-5 41601 0 NA
9-18574140-A-C p.Asn117Thr missense ADAMTSL1 1 83204 1.20187E-5 41602 0 NA
9-18574141-C-T p.Asn117Asn synonymous ADAMTSL1 2 83212 2.4035E-5 41606 0 3.18431E-5
9-18574142-C-T p.Pro118Ser missense ADAMTSL1 1 83206 1.20184E-5 41603 0 3.29576E-5
9-18574144-A-G p.Pro118Pro synonymous ADAMTSL1 1 83202 1.20189E-5 41601 0 3.54289E-4
9-18574146-G-A p.Cys119Tyr missense ADAMTSL1 4 83208 4.80723E-5 41604 0 NA
9-18574163-G-A p.Ala125Thr missense ADAMTSL1 1 83178 1.20224E-5 41589 0 NA
9-18574164-C-T p.Ala125Val missense ADAMTSL1 1 83176 1.20227E-5 41588 0 3.97905E-6
9-18574170-G-C p.Gly127Ala missense ADAMTSL1 2 83172 2.40466E-5 41586 0 1.19372E-5
9-18574173-C-A p.Thr128Lys missense ADAMTSL1 4 83170 4.80943E-5 41585 0 1.1535E-4
9-18574177-C-T p.Thr129Thr synonymous ADAMTSL1 3 83148 3.60802E-5 41574 0 3.34238E-4
9-18574180-G-A p.Leu130Leu synonymous ADAMTSL1 1 83148 1.20267E-5 41574 0 1.19377E-5
9-18574181-G-T p.Val131Phe missense ADAMTSL1 99 83132 0.00119088 41566 0 0.0019428
9-18574187-G-A p.Glu133Lys missense ADAMTSL1 3 83128 3.60889E-5 41564 0 1.15355E-4
9-18574216-G-A p.Thr142Thr synonymous ADAMTSL1 2 82950 2.41109E-5 41475 0 3.58306E-5
9-18574219-T-C p.Arg143Arg synonymous ADAMTSL1 1 82944 1.20563E-5 41472 0 NA
9-18574224-A-C p.Tyr145Ser missense ADAMTSL1 1 82922 1.20595E-5 41461 0 9.06529E-5
9-18574225-T-C p.Tyr145Tyr synonymous ADAMTSL1 14 82912 1.68854E-4 41456 0 1.73073E-4
9-18574237-G-A p.Leu149Leu synonymous ADAMTSL1 7 82846 8.44941E-5 41423 0 9.55353E-5
9-18574245-G-A p.Cys152Tyr missense ADAMTSL1 2 82796 2.41558E-5 41398 0 NA
9-18574246-C-T p.Cys152Cys synonymous ADAMTSL1 1 82786 1.20793E-5 41393 0 3.98276E-6
9-18574269-G-T p.Ser160Ile missense ADAMTSL1 1 82556 1.2113E-5 41278 0 NA
9-18574272-C-G p.Ala161Gly missense ADAMTSL1 3 82518 3.63557E-5 41259 0 3.98559E-6
9-18574274-G-T p.Asp162Tyr missense ADAMTSL1 2 82494 2.42442E-5 41247 0 NA
9-18574285-A-G p.Ser165Ser synonymous ADAMTSL1 6 82344 7.28651E-5 41172 0 3.31323E-5
9-18574290-A-G p.Asn167Ser missense ADAMTSL1 3 82196 3.64981E-5 41098 0 2.79274E-5
9-18574295-T-A p.Ser169Thr missense ADAMTSL1 2 82054 2.43742E-5 41027 0 3.19305E-5
9-18574301-G-A p.Gly171Arg missense ADAMTSL1 2 81854 2.44337E-5 40927 0 3.99521E-6
9-18574302-G-A p.Gly171Glu missense ADAMTSL1 5 81776 6.11426E-5 40888 0 4.39515E-5
9-18574305-T-C p.Phe172Ser missense ADAMTSL1 1 81628 1.22507E-5 40814 0 3.1837E-5
9-18574316-T-C p.Cys176Arg missense ADAMTSL1 1 81092 1.23317E-5 40546 0 NA
9-18574329-T-A p.Leu180* stop_gained ADAMTSL1 1 80078 1.24878E-5 40039 0 NA
9-18574331-C-A p.His181Asn missense ADAMTSL1 1 79900 1.25156E-5 39950 0 8.62649E-6
9-18574333-T-C p.His181His synonymous ADAMTSL1 1 79664 1.25527E-5 39832 0 NA
9-18574335-G-A p.Ser182Asn missense ADAMTSL1 3 79558 3.77083E-5 39779 0 1.21998E-5
9-18574339-C-T p.Leu183Leu synonymous ADAMTSL1 1 79282 1.26132E-5 39641 0 6.36902E-5
9-18574340-A-C p.Thr184Pro missense ADAMTSL1 17 79158 2.1476E-4 39579 0 5.41505E-4
9-18574344-T-C p.Leu185Pro missense ADAMTSL1 4 78870 5.07164E-5 39435 0 3.18451E-5
9-18622242-T-C p.Ile159Thr missense+splice_region ADAMTSL1 2 82964 2.41068E-5 41482 0 8.32487E-6
9-18622252-C-T p.Cys162Cys synonymous ADAMTSL1 2 82914 2.41214E-5 41457 0 3.19665E-5
9-18622252-C-A p.Cys162* stop_gained ADAMTSL1 1 82914 1.20607E-5 41457 0 NA
9-18622253-G-A p.Asp163Asn missense ADAMTSL1 2 82914 2.41214E-5 41457 0 3.19448E-5
9-18622257-A-G p.His164Arg missense ADAMTSL1 1 82900 1.20627E-5 41450 0 8.26761E-6
9-18622265-G-T p.Gly167* stop_gained ADAMTSL1 1 82888 1.20645E-5 41444 0 8.25818E-6
9-18622273-C-T p.Thr169Thr synonymous ADAMTSL1 1 82880 1.20656E-5 41440 0 8.25369E-6
9-18622274-G-A p.Val170Ile missense ADAMTSL1 252 82872 0.00304083 41436 0 0.00855992
9-18622276-C-T p.Val170Val synonymous ADAMTSL1 1 82896 1.20633E-5 41448 0 NA
9-18622288-C-A p.Asn174Lys missense ADAMTSL1 1 82882 1.20653E-5 41441 0 8.2496E-6
9-18622295-G-A p.Val177Ile missense ADAMTSL1 1 82880 1.20656E-5 41440 0 8.24974E-6
9-18622303-C-T p.Asn179Asn synonymous ADAMTSL1 109 82842 0.00131576 41421 0 0.00331231
9-18622322-C-T p.Arg186Trp missense ADAMTSL1 18 82788 2.17423E-4 41394 0 1.65027E-4
9-18622322-C-A p.Arg186Arg synonymous ADAMTSL1 1 82788 1.2079E-5 41394 0 NA
9-18622323-G-A p.Arg186Gln missense ADAMTSL1 2 82788 2.41581E-5 41394 0 1.993E-5
9-18622323-G-T p.Arg186Leu missense ADAMTSL1 2 82788 2.41581E-5 41394 0 NA
9-18622327-G-A p.Leu187Leu synonymous ADAMTSL1 1 82778 1.20805E-5 41389 0 NA
9-18622331-C-T p.Arg189* stop_gained ADAMTSL1 1 82776 1.20808E-5 41388 0 1.19582E-5
9-18622332-G-A p.Arg189Gln missense ADAMTSL1 3 82760 3.62494E-5 41380 0 3.18431E-5
9-18622354-C-A p.Leu196Leu synonymous ADAMTSL1 1 82704 1.20913E-5 41352 0 NA
9-18622357-C-T p.Ser197Ser synonymous ADAMTSL1 46 82696 5.56254E-4 41348 0 0.0040282
9-18622358-G-A p.Ala198Thr missense ADAMTSL1 3 82692 3.62792E-5 41346 0 0.00100705
9-18622358-G-T p.Ala198Ser missense ADAMTSL1 2 82692 2.41861E-5 41346 0 3.18552E-5
9-18622359-C-T p.Ala198Val missense ADAMTSL1 1 82700 1.20919E-5 41350 0 NA
9-18622362-C-A p.Thr199Asn missense ADAMTSL1 3 82700 3.62757E-5 41350 0 NA
9-18622363-C-G p.Thr199Thr synonymous ADAMTSL1 2 82702 2.41832E-5 41351 0 6.25E-4
9-18622363-C-T p.Thr199Thr synonymous ADAMTSL1 2 82702 2.41832E-5 41351 0 NA
9-18622369-TA-T p.Lys202fs frameshift ADAMTSL1 1 82700 1.20919E-5 41350 0 NA
9-18622384-T-C p.Asp206Asp synonymous ADAMTSL1 1 82664 1.20972E-5 41332 0 4.14862E-5
9-18622388-C-T p.Arg208* stop_gained ADAMTSL1 3 82618 3.63117E-5 41309 0 1.66201E-5
9-18622399-C-T p.Asp211Asp synonymous ADAMTSL1 1 82600 1.21065E-5 41300 0 NA
9-18622402-G-C p.Leu212Phe missense ADAMTSL1 2 82580 2.42189E-5 41290 0 NA
9-18622405-G-A p.Leu213Leu synonymous ADAMTSL1 3 82552 3.63407E-5 41276 0 1.91095E-4
9-18622417-C-T p.Leu217Leu synonymous ADAMTSL1 1 82440 1.213E-5 41220 0 4.00972E-6
9-18622426-G-A p.Ter220Ter stop_retained ADAMTSL1 2 82274 2.4309E-5 41137 0 8.89537E-6
9-18622615-C-A c.*189C>A splice_region ADAMTSL1 6 43978 1.36432E-4 21989 0 NA
9-18635934-T-C c.602-7T>C splice_region ADAMTSL1 1 82604 1.2106E-5 41302 0 8.65434E-6
9-18635941-C-T p.Ser201Leu missense+splice_region ADAMTSL1 5 82666 6.04844E-5 41333 0 2.54842E-4
9-18635971-G-A p.Gly211Glu missense ADAMTSL1 18 82846 2.17271E-4 41423 0 0.001875
9-18635974-G-C p.Ser212Thr missense ADAMTSL1 1 82856 1.20691E-5 41428 0 NA
9-18635975-T-C p.Ser212Ser synonymous ADAMTSL1 1 82854 1.20694E-5 41427 0 NA
9-18635977-G-T p.Arg213Ile missense ADAMTSL1 1 82872 1.20668E-5 41436 0 1.59226E-4
9-18635980-A-G p.His214Arg missense ADAMTSL1 1 82866 1.20677E-5 41433 0 1.69032E-5
9-18635986-G-A p.Arg216His missense ADAMTSL1 9 82828 1.08659E-4 41414 0 2.22721E-4
9-18636009-C-G p.His224Asp missense ADAMTSL1 3 82772 3.62441E-5 41386 0 1.9267E-4
9-18636018-A-G c.676+3A>G splice_region ADAMTSL1 2 82700 2.41838E-5 41350 0 NA
9-18639242-GATC-G c.677-9_677-7delATC splice_region ADAMTSL1 1 83038 1.20427E-5 41519 0 3.99371E-6
9-18639260-A-G p.Thr229Ala missense ADAMTSL1 1 83104 1.20331E-5 41552 0 NA
9-18639272-C-A p.Gln233Lys missense ADAMTSL1 4 83120 4.81232E-5 41560 0 7.97404E-6
9-18639275-G-C p.Gly234Arg missense ADAMTSL1 8 83114 9.62533E-5 41557 0 2.23086E-4
9-18639276-G-C p.Gly234Ala missense ADAMTSL1 1 83118 1.20311E-5 41559 0 NA
9-18639276-G-T p.Gly234Val missense ADAMTSL1 1 83118 1.20311E-5 41559 0 NA
9-18639277-G-T p.Gly234Gly synonymous ADAMTSL1 1 83122 1.20305E-5 41561 0 8.29064E-6
9-18639293-A-G p.Ser240Gly missense ADAMTSL1 1 83110 1.20322E-5 41555 0 NA
9-18639298-C-T p.Leu241Leu synonymous ADAMTSL1 1 83096 1.20343E-5 41548 0 NA
9-18639300-G-A p.Ser242Asn missense ADAMTSL1 4318 83020 0.0520116 41510 168 0.0766018
9-18639303-C-G p.Ser243Cys missense ADAMTSL1 3 83092 3.61046E-5 41546 0 0.00125
9-18639305-A-T p.Thr244Ser missense ADAMTSL1 1 83104 1.20331E-5 41552 0 NA
9-18639318-T-C p.Leu248Pro missense ADAMTSL1 12 83082 1.44436E-4 41541 0 6.25E-4
9-18639322-G-C p.Val249Val synonymous ADAMTSL1 1 83094 1.20346E-5 41547 0 7.97226E-6
9-18639331-T-C p.Ser252Ser synonymous ADAMTSL1 8 83070 9.63043E-5 41535 1 0.00125
9-18639357-A-G p.Asp261Gly missense ADAMTSL1 10 82994 1.20491E-4 41497 0 1.91229E-4
9-18639375-T-C p.Met267Thr missense ADAMTSL1 10 82910 1.20613E-4 41455 0 1.27372E-4
9-18639382-A-G p.Gly269Gly synonymous ADAMTSL1 1 82836 1.2072E-5 41418 0 8.28926E-6
9-18639383-C-T p.Pro270Ser missense ADAMTSL1 2 82834 2.41447E-5 41417 0 3.99246E-6
9-18639397-T-C p.Asp274Asp synonymous ADAMTSL1 1 82798 1.20776E-5 41399 0 1.19955E-5
9-18639407-A-C p.Lys278Gln missense+splice_region ADAMTSL1 1 82702 1.20916E-5 41351 0 NA
9-18639416-C-T c.834+7C>T splice_region ADAMTSL1 4 82606 4.84226E-5 41303 0 1.27502E-4
9-18657630-C-T c.835-7C>T splice_region ADAMTSL1 3 83082 3.61089E-5 41541 0 2.58571E-4
9-18657641-G-A p.Arg280His missense ADAMTSL1 1 83192 1.20204E-5 41596 0 3.97747E-6
9-18657648-G-A p.Ser282Ser synonymous ADAMTSL1 3 83242 3.60395E-5 41621 0 1.1932E-5
9-18657654-C-T p.Ser284Ser synonymous ADAMTSL1 9 83264 1.0809E-4 41632 0 0.0020141
9-18657657-T-C p.Ala285Ala synonymous ADAMTSL1 1 83280 1.20077E-5 41640 0 3.2963E-5
9-18657659-A-G p.Asp286Gly missense ADAMTSL1 1 83282 1.20074E-5 41641 0 3.97659E-6
9-18657664-A-C p.Thr288Pro missense ADAMTSL1 1 83284 1.20071E-5 41642 0 1.64788E-5
9-18657666-A-G p.Thr288Thr synonymous ADAMTSL1 1 83300 1.20048E-5 41650 0 NA
9-18657674-T-C p.Phe291Ser missense ADAMTSL1 2 83296 2.40108E-5 41648 0 3.97633E-6
9-18657720-CT-C p.Pro308fs frameshift ADAMTSL1 2 83242 2.40263E-5 41621 0 NA
9-18657724-C-A p.Pro308Thr missense ADAMTSL1 1 83236 1.2014E-5 41618 0 NA
9-18657729-C-A p.Cys309* stop_gained ADAMTSL1 2 83218 2.40333E-5 41609 0 NA
9-18657732-A-C p.Ser310Ser synonymous ADAMTSL1 1 83222 1.20161E-5 41611 0 3.18552E-5
9-18657747-A-T p.Gly315Gly splice_region+synonymous ADAMTSL1 1 83132 1.20291E-5 41566 0 NA
9-18661946-A-G p.Thr320Thr synonymous ADAMTSL1 1 83268 1.20094E-5 41634 0 1.19784E-5
9-18661949-G-A p.Ser321Ser synonymous ADAMTSL1 7 83272 8.40619E-5 41636 0 5.9886E-5
9-18661961-C-T p.Tyr325Tyr synonymous ADAMTSL1 24 83290 2.8815E-4 41645 0 3.58451E-4
9-18661962-G-A p.Asp326Asn missense ADAMTSL1 8 83306 9.60315E-5 41653 0 9.55779E-5
9-18661965-C-A p.Leu327Met missense ADAMTSL1 1 83304 1.20042E-5 41652 0 8.24824E-6
9-18661972-G-A p.Ser329Asn missense ADAMTSL1 5 83308 6.00182E-5 41654 0 5.96925E-5
9-18661973-C-A p.Ser329Arg missense ADAMTSL1 3 83308 3.60109E-5 41654 0 1.1938E-5
9-18661974-A-T p.Asn330Tyr missense ADAMTSL1 1 83310 1.20034E-5 41655 0 NA
9-18661977-C-T p.Arg331Cys missense ADAMTSL1 2 83314 2.40056E-5 41657 0 4.77475E-5
9-18661978-G-A p.Arg331His missense ADAMTSL1 44 83320 5.28085E-4 41660 0 0.00101924
9-18661979-TG-T p.Val332fs frameshift ADAMTSL1 1 83320 1.20019E-5 41660 0 NA
9-18661980-G-C p.Val332Leu missense ADAMTSL1 1 83320 1.20019E-5 41660 0 3.58044E-5
9-18661988-T-A p.Ala334Ala synonymous ADAMTSL1 2 83328 2.40015E-5 41664 0 3.18431E-5
9-18661991-C-T p.Asp335Asp synonymous ADAMTSL1 3 83326 3.60032E-5 41663 0 3.97753E-6
9-18661995-T-G p.Tyr337Asp missense ADAMTSL1 146 83332 0.00175203 41666 0 0.00118927
9-18662006-T-C p.Tyr340Tyr synonymous ADAMTSL1 1 83340 1.1999E-5 41670 0 NA
9-18662007-T-C p.Tyr341His missense ADAMTSL1 1 83340 1.1999E-5 41670 0 NA
9-18662011-C-T p.Pro342Leu missense ADAMTSL1 2 83340 2.39981E-5 41670 0 8.23818E-6
9-18662012-A-G p.Pro342Pro synonymous ADAMTSL1 233 83344 0.00279564 41672 3 0.00579581
9-18662013-G-C p.Glu343Gln missense ADAMTSL1 3 83350 3.59928E-5 41675 0 7.15939E-5
9-18662016-A-C p.Asn344His missense ADAMTSL1 3 83352 3.59919E-5 41676 0 8.23859E-6
9-18662018-C-G p.Asn344Lys missense ADAMTSL1 4 83356 4.79869E-5 41678 0 NA
9-18662028-A-C p.Lys348Gln missense ADAMTSL1 1 83352 1.19973E-5 41676 0 2.47162E-5
9-18662034-A-T p.Lys350* stop_gained ADAMTSL1 4 83348 4.79916E-5 41674 0 8.2394E-6
9-18662054-G-A p.Leu356Leu synonymous ADAMTSL1 2 83344 2.39969E-5 41672 0 NA
9-18662066-A-C p.Pro360Pro synonymous ADAMTSL1 1 83346 1.19982E-5 41673 0 3.18431E-5
9-18662069-C-CAGGT p.Pro358fs frameshift ADAMTSL1 1 83342 1.19988E-5 41671 0 4.02304E-6
9-18675858-C-T p.Asp363Asp synonymous ADAMTSL1 5 82922 6.02976E-5 41461 0 6.25E-4
9-18675885-C-A p.Asp372Glu missense ADAMTSL1 2 82956 2.41092E-5 41478 0 NA
9-18675897-C-G p.Pro376Pro synonymous ADAMTSL1 127 82910 0.00153178 41455 0 0.0020141
9-18675902-C-CT p.Arg379fs frameshift ADAMTSL1 1 82842 1.20712E-5 41421 0 NA
9-18675904-C-T p.Arg379Trp missense+splice_region ADAMTSL1 2 82822 2.41482E-5 41411 0 NA
9-18675905-G-A p.Arg379Gln missense+splice_region ADAMTSL1 1 82780 1.20802E-5 41390 0 6.38244E-5
9-18675909-C-T c.1136+4C>T splice_region ADAMTSL1 2 82728 2.41756E-5 41364 0 6.37592E-5
9-18675913-A-G c.1136+8A>G splice_region ADAMTSL1 2 82710 2.41809E-5 41355 0 NA
9-18680306-G-A c.1137-4G>A splice_region ADAMTSL1 1 82426 1.21321E-5 41213 0 NA
9-18680314-G-A p.Glu381Lys missense ADAMTSL1 2 82522 2.4236E-5 41261 0 3.99033E-6
9-18680318-C-T p.Ala382Val missense ADAMTSL1 1 82538 1.21156E-5 41269 0 NA
9-18680331-C-T p.Thr386Thr synonymous ADAMTSL1 6 82766 7.24935E-5 41383 0 2.50547E-5
9-18680332-G-A p.Ala387Thr missense ADAMTSL1 1 82788 1.2079E-5 41394 0 5.83362E-5
9-18680333-C-T p.Ala387Val missense ADAMTSL1 3 82804 3.62301E-5 41402 0 3.3315E-5
9-18680337-C-T p.Cys388Cys synonymous ADAMTSL1 1 82938 1.20572E-5 41469 0 8.29765E-6
9-18680345-C-T p.Ser391Leu missense ADAMTSL1 12 83014 1.44554E-4 41507 0 5.03525E-4
9-18680346-G-A p.Ser391Ser synonymous ADAMTSL1 9 83038 1.08384E-4 41519 0 0.00125156
9-18680349-TG-T p.Gly395fs frameshift ADAMTSL1 1 83020 1.20453E-5 41510 0 1.09E-4
9-18680349-T-TG p.Ile396fs frameshift ADAMTSL1 12 82990 1.44596E-4 41495 0 0.00256569
9-18680350-G-C p.Gly393Arg missense ADAMTSL1 18 83048 2.16742E-4 41524 0 1.18554E-4
9-18680350-G-A p.Gly393Arg missense ADAMTSL1 5 83048 6.02061E-5 41524 0 5.92768E-5
9-18680350-G-T p.Gly393Trp missense ADAMTSL1 7 83048 8.42886E-5 41524 0 0.00125156
9-18680351-G-C p.Gly393Ala missense ADAMTSL1 1 83062 1.20392E-5 41531 0 2.49182E-5
9-18680351-G-T p.Gly393Val missense ADAMTSL1 1 83062 1.20392E-5 41531 0 7.9906E-6
9-18680351-G-A p.Gly393Glu missense ADAMTSL1 1 83062 1.20392E-5 41531 0 8.30606E-6
9-18680352-G-C p.Gly393Gly synonymous ADAMTSL1 32 83062 3.85254E-4 41531 0 5.76912E-4
9-18680352-G-T p.Gly393Gly synonymous ADAMTSL1 2 83062 2.40784E-5 41531 0 4.95115E-5
9-18680356-G-T p.Gly395Cys missense ADAMTSL1 2 83086 2.40714E-5 41543 0 NA
9-18680356-G-C p.Gly395Arg missense ADAMTSL1 1 83086 1.20357E-5 41543 0 NA
9-18680356-G-GA p.Gly395fs frameshift ADAMTSL1 1 83086 1.20357E-5 41543 0 NA
9-18680369-G-A p.Arg399Gln missense ADAMTSL1 2 83162 2.40494E-5 41581 0 3.29652E-5
9-18680372-C-A p.Ala400Glu missense ADAMTSL1 1 83178 1.20224E-5 41589 0 3.18573E-5
9-18680381-G-A p.Cys403Tyr missense ADAMTSL1 1 83238 1.20137E-5 41619 0 NA
9-18680399-A-G p.Gln409Arg missense ADAMTSL1 1 83264 1.201E-5 41632 0 NA
9-18680406-T-C p.His411His synonymous ADAMTSL1 2 83282 2.40148E-5 41641 0 3.97665E-6
9-18680416-G-T p.Val415Leu missense ADAMTSL1 2 83290 2.40125E-5 41645 0 8.2371E-6
9-18680434-A-G p.Met421Val missense ADAMTSL1 2 83306 2.40079E-5 41653 0 NA
9-18680437-T-A p.Tyr422Asn missense ADAMTSL1 4 83306 4.80158E-5 41653 0 3.18593E-5
9-18680441-C-T p.Thr423Ile missense ADAMTSL1 2 83310 2.40067E-5 41655 0 8.23669E-6
9-18680451-G-T p.Met426Ile missense ADAMTSL1 2 83328 2.40015E-5 41664 0 2.47097E-5
9-18680456-T-C p.Ile428Thr missense ADAMTSL1 2 83332 2.40004E-5 41666 0 NA
9-18680459-C-T p.Ala429Val missense ADAMTSL1 5 83330 6.00024E-5 41665 0 5.03525E-4
9-18680460-G-A p.Ala429Ala synonymous ADAMTSL1 6 83328 7.20046E-5 41664 0 3.18492E-5
9-18680461-C-A p.Gln430Lys missense ADAMTSL1 2 83324 2.40027E-5 41662 0 NA
9-18680464-C-A p.Pro431Thr missense ADAMTSL1 7 83320 8.40134E-5 41660 0 4.11821E-5
9-18680473-A-AT p.Asp436fs frameshift ADAMTSL1 1 83298 1.20051E-5 41649 0 NA
9-18680474-T-C p.Ile434Thr missense ADAMTSL1 93 83296 0.0011165 41648 0 0.00229372
9-18680481-C-T p.Asp436Asp synonymous ADAMTSL1 4 83292 4.80238E-5 41646 0 1.56492E-4
9-18680497-G-A p.Ala442Thr missense ADAMTSL1 3 83266 3.60291E-5 41633 0 9.55901E-5
9-18680512-C-T p.Pro447Ser missense+splice_region ADAMTSL1 6 83212 7.2105E-5 41606 0 8.23818E-5
9-18680513-C-T p.Pro447Leu missense+splice_region ADAMTSL1 2 83214 2.40344E-5 41607 0 1.64769E-5
9-18680525-C-T p.Pro434Leu missense ADAMTSL1 1 83090 1.20351E-5 41545 0 NA
9-18680526-T-G p.Pro434Pro synonymous ADAMTSL1 1 83088 1.20354E-5 41544 0 3.98057E-6
9-18680530-T-G p.Phe436Val missense ADAMTSL1 1 83036 1.2043E-5 41518 0 NA
9-18680535-T-G p.Phe437Leu missense ADAMTSL1 1 82928 1.20587E-5 41464 0 NA
9-18681802-C-G c.1342-8C>G splice_region ADAMTSL1 8 82928 9.64692E-5 41464 0 2.64791E-4
9-18681802-C-T c.1342-8C>T splice_region ADAMTSL1 2 82928 2.41173E-5 41464 0 NA
9-18681815-A-G p.Thr449Thr synonymous ADAMTSL1 2 83106 2.40657E-5 41553 0 2.5481E-4
9-18681821-A-G p.Thr451Thr synonymous ADAMTSL1 29219 80706 0.362042 40353 5430 0.358125
9-18681827-C-T p.Gly453Gly synonymous ADAMTSL1 2 83132 2.40581E-5 41566 0 1.6484E-5
9-18681829-A-G p.Gln454Arg missense ADAMTSL1 1 83154 1.20259E-5 41577 0 NA
9-18681838-G-A p.Arg457Lys missense ADAMTSL1 1 83166 1.20241E-5 41583 0 NA
9-18681840-T-C p.Tyr458His missense ADAMTSL1 4 83166 4.80966E-5 41583 0 0.00125
9-18681842-C-T p.Tyr458Tyr synonymous ADAMTSL1 1 83168 1.20239E-5 41584 0 1.59336E-5
9-18681844-G-A p.Arg459His missense ADAMTSL1 1 83166 1.20241E-5 41583 0 6.25E-4
9-18681856-G-A p.Cys463Tyr missense ADAMTSL1 1 83164 1.20244E-5 41582 0 NA
9-18681861-G-A p.Asp465Asn missense ADAMTSL1 2 83166 2.40483E-5 41583 0 3.18735E-5
9-18681864-C-A p.His466Asn missense ADAMTSL1 1 83186 1.20213E-5 41593 0 NA
9-18681868-G-A p.Arg467Gln missense ADAMTSL1 1 83178 1.20224E-5 41589 0 5.03525E-4
9-18681871-G-A p.Gly468Glu missense ADAMTSL1 1 83176 1.20227E-5 41588 0 2.38662E-5
9-18681873-A-G p.Met469Val missense ADAMTSL1 9 83182 1.08196E-4 41591 0 1.64766E-5
9-18681874-T-C p.Met469Thr missense ADAMTSL1 1 83178 1.20224E-5 41589 0 8.23845E-6
9-18681880-C-A p.Thr471Lys missense ADAMTSL1 39 83198 4.68761E-4 41599 0 0.00151057
9-18681881-A-T p.Thr471Thr synonymous ADAMTSL1 4 83186 4.8085E-5 41593 0 7.9552E-6
9-18681892-G-A p.Ser475Asn missense ADAMTSL1 1 83186 1.20213E-5 41593 0 7.9552E-6
9-18681901-C-T p.Thr478Ile missense ADAMTSL1 1 83196 1.20198E-5 41598 0 3.97738E-6
9-18681911-C-T p.His481His synonymous ADAMTSL1 1 83168 1.20239E-5 41584 0 5.03525E-4
9-18681912-A-G p.Ile482Val missense ADAMTSL1 1 83162 1.20247E-5 41581 0 NA
9-18681929-C-T p.Ile487Ile synonymous ADAMTSL1 1 83144 1.20273E-5 41572 0 1.19335E-5
9-18681929-C-G p.Ile487Met missense ADAMTSL1 1 83144 1.20273E-5 41572 0 NA
9-18681930-G-A p.Val488Ile missense ADAMTSL1 12 83128 1.44356E-4 41564 0 0.00125
9-18681946-A-G p.Tyr493Cys missense ADAMTSL1 1 83078 1.20369E-5 41539 0 3.97972E-6
9-18681955-A-G p.Lys496Arg missense+splice_region ADAMTSL1 1 83022 1.2045E-5 41511 0 NA
9-18684711-C-T c.1490-3C>T splice_region ADAMTSL1 1 83110 1.20322E-5 41555 0 NA
9-18684713-G-T c.1490-1G>T splice_acceptor ADAMTSL1 2 83126 2.40599E-5 41563 0 1.95929E-5
9-18684717-A-C p.Lys498Thr missense ADAMTSL1 1 83118 1.20311E-5 41559 0 NA
9-18684724-A-G p.Pro500Pro synonymous ADAMTSL1 2 83140 2.40558E-5 41570 0 6.25E-4
9-18684727-C-T p.Val501Val synonymous ADAMTSL1 29 83150 3.48767E-4 41575 0 4.45775E-4
9-18684729-A-G p.Glu502Gly missense ADAMTSL1 1 83150 1.20265E-5 41575 0 4.00535E-6
9-18684731-G-T p.Ala503Ser missense ADAMTSL1 156 83158 0.00187595 41579 0 0.00152427
9-18684731-G-A p.Ala503Thr missense ADAMTSL1 2 83164 2.40489E-5 41582 0 NA
9-18684735-A-G p.Lys504Arg missense ADAMTSL1 1 83154 1.20259E-5 41577 0 NA
9-18684736-G-A p.Lys504Lys synonymous ADAMTSL1 3 83156 3.60768E-5 41578 0 0.00100705
9-18684750-A-G p.Lys509Arg missense ADAMTSL1 5 83176 6.01135E-5 41588 0 3.28502E-4
9-18684765-TAGA-T p.Glu516del disruptive_inframe_deletion ADAMTSL1 1 83184 1.20215E-5 41592 0 3.1839E-5
9-18684767-G-C p.Glu515Gln missense ADAMTSL1 1 83182 1.20218E-5 41591 0 NA
9-18684771-A-T p.Glu516Val missense ADAMTSL1 3 83176 3.60681E-5 41588 0 4.01942E-6
9-18684773-G-A p.Gly517Arg missense ADAMTSL1 1 83164 1.20244E-5 41582 0 2.94291E-5
9-18684784-G-A p.Val520Val synonymous ADAMTSL1 1 83138 1.20282E-5 41569 0 NA
9-18684789-A-G p.Glu522Gly missense ADAMTSL1 2 83126 2.40599E-5 41563 0 5.20844E-5
9-18684793-G-C p.Glu523Asp missense ADAMTSL1 1 83092 1.20349E-5 41546 0 5.03525E-4
9-18706737-G-A c.1575-8G>A splice_region ADAMTSL1 56 81946 6.83377E-4 40973 0 5.34923E-4
9-18706737-G-T c.1575-8G>T splice_region ADAMTSL1 1 81946 1.22032E-5 40973 0 NA
9-18706752-C-A p.Pro528Thr missense ADAMTSL1 1 82118 1.21776E-5 41059 0 NA
9-18706756-A-T p.Glu529Val missense ADAMTSL1 1 82150 1.21729E-5 41075 0 7.49513E-5
9-18706766-G-A p.Ser532Ser synonymous ADAMTSL1 11 82200 1.3382E-4 41100 0 5.20117E-4
9-18706786-G-A p.Gly539Asp missense ADAMTSL1 1 82322 1.21474E-5 41161 0 1.42507E-5
9-18706789-T-C p.Val540Ala missense ADAMTSL1 1 82320 1.21477E-5 41160 0 NA
9-18706829-G-T p.Leu553Leu synonymous ADAMTSL1 1 82422 1.21327E-5 41211 0 2.22921E-5
9-18706835-C-T p.Phe555Phe synonymous ADAMTSL1 2 82426 2.42642E-5 41213 0 3.18573E-5
9-18706835-C-G p.Phe555Leu missense ADAMTSL1 2 82426 2.42642E-5 41213 0 1.61548E-5
9-18706836-T-G p.Ser556Ala missense ADAMTSL1 1 82426 1.21321E-5 41213 0 NA
9-18706844-C-T p.Ser558Ser synonymous ADAMTSL1 1 82394 1.21368E-5 41197 0 3.21932E-5
9-18706844-C-A p.Ser558Ser synonymous ADAMTSL1 1 82396 1.21365E-5 41198 0 2.0501E-5
9-18706845-G-A p.Val559Met missense ADAMTSL1 58 82400 7.03883E-4 41200 0 0.00133792
9-18706856-G-A p.Leu562Leu synonymous ADAMTSL1 1 82438 1.21303E-5 41219 0 9.35051E-6
9-18706858-C-T p.Pro563Leu missense ADAMTSL1 3 82448 3.63866E-5 41224 0 3.70069E-5
9-18706865-C-T p.Asp565Asp synonymous ADAMTSL1 81 82446 9.82461E-4 41223 0 0.00119074
9-18706873-A-C p.Glu568Ala missense ADAMTSL1 2 82446 2.42583E-5 41223 0 3.98991E-6
9-18706873-A-G p.Glu568Gly missense ADAMTSL1 1 82446 1.21292E-5 41223 0 NA
9-18706878-C-T p.Pro570Ser missense ADAMTSL1 1 82448 1.21289E-5 41224 0 3.98921E-6
9-18706879-C-T p.Pro570Leu missense ADAMTSL1 6 82446 7.27749E-5 41223 0 1.73136E-5
9-18706891-C-T p.Ser574Phe missense ADAMTSL1 1 82464 1.21265E-5 41232 0 NA
9-18706897-G-A p.Arg576His missense ADAMTSL1 3 82438 3.6391E-5 41219 0 2.78911E-5
9-18706909-C-G p.Ala580Gly missense ADAMTSL1 5 82422 6.06634E-5 41211 0 7.17251E-5
9-18706912-G-A p.Gly581Asp missense ADAMTSL1 1 82420 1.2133E-5 41210 0 NA
9-18706923-G-A p.Gly585Arg missense ADAMTSL1 1 82378 1.21392E-5 41189 0 2.78836E-5
9-18706924-G-A p.Gly585Glu missense ADAMTSL1 1 82364 1.21412E-5 41182 0 3.18735E-5
9-18706942-A-C p.Asn591Thr missense ADAMTSL1 1 82254 1.21575E-5 41127 0 3.18735E-5
9-18706947-G-C p.Asp593His missense ADAMTSL1 3 82216 3.64892E-5 41108 0 NA
9-18706949-C-T p.Asp593Asp synonymous ADAMTSL1 3 82176 3.6507E-5 41088 0 1.19524E-5
9-18706950-G-A p.Glu594Lys missense ADAMTSL1 6 82144 7.30425E-5 41072 0 5.03525E-4
9-18706959-G-C p.Gly597Arg missense ADAMTSL1 3 82014 3.65791E-5 41007 0 8.25859E-6
9-18706964-C-T p.Leu598Leu synonymous ADAMTSL1 14 81868 1.71007E-4 40934 0 1.91362E-4
9-18706968-G-C p.Gly600Arg missense ADAMTSL1 1 81760 1.22309E-5 40880 0 3.98702E-6
9-18706971-G-C p.Gly601Arg missense ADAMTSL1 4 81632 4.90004E-5 40816 0 2.39654E-4
9-18706980-G-A p.Asp604Asn missense ADAMTSL1 2 81262 2.46117E-5 40631 0 1.99602E-5
9-18706986-G-A p.Asp606Asn missense ADAMTSL1 33 80792 4.08456E-4 40396 0 0.01
9-18706989-G-A p.Glu607Lys missense ADAMTSL1 9 80542 1.11743E-4 40271 0 1.27927E-4
9-18706991-G-A p.Glu607Glu synonymous ADAMTSL1 2 80330 2.48973E-5 40165 0 3.99808E-6
9-18706999-A-G p.Asp610Gly missense ADAMTSL1 3 79684 3.76487E-5 39842 0 NA
9-18707000-C-T p.Asp610Asp synonymous ADAMTSL1 1 79468 1.25837E-5 39734 0 8.29958E-6
9-18707030-C-T p.Ser620Ser synonymous ADAMTSL1 3 74020 4.05296E-5 37010 0 0.00100705
9-18721548-G-C p.Val631Leu missense ADAMTSL1 1 82622 1.21033E-5 41311 0 NA
9-18721548-G-A p.Val631Met missense ADAMTSL1 1 82622 1.21033E-5 41311 0 NA
9-18721567-A-G p.Lys637Arg missense ADAMTSL1 47 82570 5.69214E-4 41285 0 0.00101982
9-18721572-A-T p.Thr639Ser missense ADAMTSL1 1 82534 1.21162E-5 41267 0 7.9661E-6
9-18721575-C-T p.Arg640Trp missense ADAMTSL1 1 82540 1.21153E-5 41270 0 1.6487E-5
9-18721576-G-A p.Arg640Gln missense ADAMTSL1 2 82578 2.42195E-5 41289 0 5.03525E-4
9-18721580-G-C p.Glu641Asp missense ADAMTSL1 20 82576 2.42201E-4 41288 0 1.99138E-4
9-18721580-G-T p.Glu641Asp missense ADAMTSL1 1 82576 1.21101E-5 41288 0 3.29723E-5
9-18721584-G-A p.Ala643Thr missense ADAMTSL1 134 82576 0.00162275 41288 1 0.00356802
9-18721586-TGAG-T p.Glu645del conservative_inframe_deletion ADAMTSL1 1 82572 1.21106E-5 41286 0 NA
9-18721601-C-T p.Cys648Cys synonymous ADAMTSL1 3 82538 3.63469E-5 41269 0 3.29712E-5
9-18721602-G-A p.Val649Met missense ADAMTSL1 1 82528 1.21171E-5 41264 0 9.55962E-5
9-18721612-G-A p.Arg652His missense ADAMTSL1 4 82538 4.84625E-5 41269 0 6.37511E-5
9-18721612-G-T p.Arg652Leu missense ADAMTSL1 1 82538 1.21156E-5 41269 0 NA
9-18721615-G-A p.Arg653Gln missense ADAMTSL1 14 82542 1.69611E-4 41271 0 2.23015E-4
9-18721621-C-G p.Pro655Arg missense ADAMTSL1 1 82542 1.2115E-5 41271 0 3.9841E-6
9-18721627-T-C p.Leu657Pro missense ADAMTSL1 2 82520 2.42365E-5 41260 0 1.19552E-5
9-18721630-T-C p.Leu658Pro missense ADAMTSL1 1 82524 1.21177E-5 41262 0 3.18552E-5
9-18721631-G-T p.Leu658Leu synonymous ADAMTSL1 3 82520 3.63548E-5 41260 0 NA
9-18721632-A-G p.Lys659Glu missense ADAMTSL1 1 82498 1.21215E-5 41249 0 NA
9-18721636-C-T p.Ser660Phe missense ADAMTSL1 4 82496 4.84872E-5 41248 0 1.99314E-5
9-18721642-A-G p.Asn662Ser missense ADAMTSL1 46 82492 5.5763E-4 41246 0 4.94394E-4
9-18721644-T-G p.Leu663Val missense ADAMTSL1 1 82462 1.21268E-5 41231 0 2.48024E-5
9-18721656-C-T p.Pro667Ser missense ADAMTSL1 1 82412 1.21342E-5 41206 0 NA
9-18721670-G-T c.2006+7G>T splice_region ADAMTSL1 1 82362 1.21415E-5 41181 0 1.66459E-5
9-18723010-A-G c.2007-6A>G splice_region ADAMTSL1 2 55342 3.61389E-5 27671 0 6.36821E-5
9-18723036-G-A p.Trp676* stop_gained ADAMTSL1 1 55342 1.80695E-5 27671 0 1.62305E-5
9-18723040-C-T p.Asn677Asn synonymous ADAMTSL1 3 55338 5.42123E-5 27669 0 2.22916E-4
9-18723041-G-A p.Ala678Thr missense ADAMTSL1 1 55336 1.80714E-5 27668 0 3.18512E-5
9-18723042-C-T p.Ala678Val missense ADAMTSL1 2 55338 3.61415E-5 27669 0 4.05656E-6
9-18723045-G-A p.Cys679Tyr missense ADAMTSL1 2 55340 3.61402E-5 27670 0 NA
9-18723050-G-A p.Val681Ile missense ADAMTSL1 3 55340 5.42103E-5 27670 0 5.77501E-5
9-18723050-GTTCT-G p.Leu682fs frameshift ADAMTSL1 1 55340 1.80701E-5 27670 0 2.8875E-5
9-18753289-TTC-T c.2007-6_2007-5delTC splice_region ADAMTSL1 1 77484 1.29059E-5 38742 0 3.18451E-5
9-18753306-G-A p.Gly673Ser missense ADAMTSL1 22 79266 2.77546E-4 39633 0 2.83473E-4
9-18753324-A-G p.Ser679Gly missense ADAMTSL1 2 80362 2.48874E-5 40181 0 4.08594E-6
9-18753329-C-A p.Leu680Leu synonymous ADAMTSL1 30 80534 3.72513E-4 40267 0 2.86533E-4
9-18753332-A-C p.Thr681Thr synonymous ADAMTSL1 1 80682 1.23943E-5 40341 0 NA
9-18753333-T-C p.Cys682Arg missense ADAMTSL1 1 80704 1.2391E-5 40352 0 6.25E-4
9-18753342-G-A p.Gly685Ser missense ADAMTSL1 1 80894 1.23619E-5 40447 0 7.3482E-5
9-18753358-A-G p.Asp690Gly missense ADAMTSL1 1 81258 1.23065E-5 40629 0 NA
9-18753359-C-T p.Asp690Asp synonymous ADAMTSL1 2 81274 2.46081E-5 40637 0 6.98463E-5
9-18753360-G-A p.Val691Ile missense ADAMTSL1 1 81300 1.23001E-5 40650 0 8.16053E-6
9-18753374-C-A p.His695Gln missense ADAMTSL1 5 81564 6.13016E-5 40782 0 4.06851E-6
9-18753377-G-C p.Leu696Leu synonymous ADAMTSL1 1 81556 1.22615E-5 40778 0 NA
9-18753386-A-G p.Arg699Arg synonymous ADAMTSL1 2 81700 2.44798E-5 40850 0 6.25E-4
9-18753395-T-C p.Asn702Asn synonymous ADAMTSL1 3 81750 3.66972E-5 40875 0 3.18451E-5
9-18753400-C-T p.Thr704Ile missense ADAMTSL1 1 81758 1.22312E-5 40879 0 4.04868E-6
9-18753410-G-A p.Leu707Leu synonymous ADAMTSL1 1 81840 1.2219E-5 40920 0 9.55718E-5
9-18753413-T-C p.Ala708Ala synonymous ADAMTSL1 1 81866 1.22151E-5 40933 0 3.18431E-5
9-18753417-G-A p.Glu710Lys missense ADAMTSL1 1 81890 1.22115E-5 40945 0 1.81032E-5
9-18753426-C-T p.Arg713Cys missense ADAMTSL1 1 81916 1.22076E-5 40958 0 6.36862E-5
9-18753427-G-A p.Arg713His missense ADAMTSL1 1 81918 1.22073E-5 40959 0 3.18492E-5
9-18753429-C-T p.Gln714* stop_gained ADAMTSL1 1 81954 1.2202E-5 40977 0 NA
9-18753437-G-A p.Lys716Lys synonymous ADAMTSL1 1 81990 1.21966E-5 40995 0 NA
9-18753439-C-A p.Pro717His missense ADAMTSL1 2 82014 2.43861E-5 41007 0 4.03054E-6
9-18753444-A-G p.Thr719Ala missense ADAMTSL1 1 82042 1.21889E-5 41021 0 NA
9-18753445-C-T p.Thr719Met missense ADAMTSL1 1 82030 1.21907E-5 41015 0 6.36821E-5
9-18753452-A-G p.Gln721Gln synonymous ADAMTSL1 306 82022 0.00373071 41011 2 0.0181269
9-18753460-A-G p.Asn724Ser missense ADAMTSL1 1 82022 1.21919E-5 41011 0 4.03333E-6
9-18753462-C-T p.Arg725Cys missense ADAMTSL1 1 82058 1.21865E-5 41029 0 3.22825E-5
9-18753462-C-A p.Arg725Ser missense ADAMTSL1 1 82058 1.21865E-5 41029 0 4.03532E-6
9-18753463-G-A p.Arg725His missense ADAMTSL1 2 82042 2.43778E-5 41021 0 9.55536E-5
9-18753477-C-A p.Pro730Thr missense ADAMTSL1 1 82058 1.21865E-5 41029 0 NA
9-18753482-C-G p.Ala731Ala synonymous ADAMTSL1 3 82050 3.65631E-5 41025 0 1.82179E-4
9-18753505-C-T p.Pro739Leu missense+splice_region ADAMTSL1 65 81850 7.94136E-4 40925 1 0.00354369
9-18753506-G-A p.Pro739Pro splice_region+synonymous ADAMTSL1 1 81804 1.22243E-5 40902 0 2.48965E-5
9-18753506-G-C p.Pro739Pro splice_region+synonymous ADAMTSL1 1 81804 1.22243E-5 40902 0 4.14941E-6
9-18770602-T-C p.Cys740Cys splice_region+synonymous ADAMTSL1 1 81316 1.22977E-5 40658 0 NA
9-18770610-C-T p.Thr743Met missense ADAMTSL1 1 81598 1.22552E-5 40799 0 NA
9-18770611-G-C p.Thr743Thr synonymous ADAMTSL1 1 81624 1.22513E-5 40812 0 NA
9-18770611-G-T p.Thr743Thr synonymous ADAMTSL1 1 81624 1.22513E-5 40812 0 4.054E-6
9-18770616-G-T p.Gly745Val missense ADAMTSL1 1 81740 1.22339E-5 40870 0 NA
9-18770617-C-CG p.Val748fs frameshift ADAMTSL1 1 81768 1.22297E-5 40884 0 NA
9-18770617-C-T p.Gly745Gly synonymous ADAMTSL1 3 81768 3.66892E-5 40884 0 9.55962E-5
9-18770618-G-A p.Gly746Arg missense ADAMTSL1 4 81838 4.8877E-5 40919 0 0.00151057
9-18770622-G-A p.Gly747Asp missense ADAMTSL1 1 81904 1.22094E-5 40952 0 4.04116E-6
9-18770626-T-C p.Val748Val synonymous ADAMTSL1 1 81936 1.22046E-5 40968 0 4.04367E-6
9-18770633-C-T p.Arg751Cys missense ADAMTSL1 1 82076 1.21838E-5 41038 0 1.8357E-5
9-18770634-G-A p.Arg751His missense ADAMTSL1 1 82112 1.21785E-5 41056 0 1.21061E-5
9-18770654-C-T p.Arg758Cys missense ADAMTSL1 21 82376 2.54929E-4 41188 0 1.69247E-4
9-18770658-T-C p.Met759Thr missense ADAMTSL1 1 82430 1.21315E-5 41215 0 8.05069E-6
9-18770659-G-A p.Met759Ile missense ADAMTSL1 2 82448 2.42577E-5 41224 0 NA
9-18770668-CAGCTTCCTGG-C p.Glu766fs frameshift ADAMTSL1 1 82462 1.21268E-5 41231 0 NA
9-18770671-C-A p.Ser763Arg missense ADAMTSL1 36 82472 4.36512E-4 41236 0 0.00121027
9-18770680-G-A p.Glu766Glu synonymous ADAMTSL1 4 82498 4.8486E-5 41249 0 NA
9-18770689-G-C p.Glu769Asp missense ADAMTSL1 4 82522 4.84719E-5 41261 0 6.37186E-5
9-18770693-T-G p.Phe771Val missense ADAMTSL1 2 82534 2.42324E-5 41267 0 NA
9-18770696-T-G p.Cys772Gly missense ADAMTSL1 1 82548 1.21142E-5 41274 0 6.37105E-5
9-18770704-T-C p.Ala774Ala synonymous ADAMTSL1 1 82538 1.21156E-5 41269 0 NA
9-18770718-G-A p.Cys779Tyr missense ADAMTSL1 1 82522 1.2118E-5 41261 0 8.44823E-6
9-18770737-A-G p.Lys785Lys synonymous ADAMTSL1 1 82526 1.21174E-5 41263 0 NA
9-18770740-T-C p.Asp786Asp synonymous ADAMTSL1 2 82530 2.42336E-5 41265 0 NA
9-18770741-G-A p.Asp787Asn missense ADAMTSL1 1 82524 1.21177E-5 41262 0 NA
9-18770747-C-G p.Pro789Ala missense ADAMTSL1 1 82524 1.21177E-5 41262 0 3.18532E-5
9-18770752-C-T p.Ser790Ser synonymous ADAMTSL1 3 82504 3.63619E-5 41252 0 5.91846E-5
9-18770753-G-C p.Glu791Gln missense ADAMTSL1 1 82512 1.21194E-5 41256 0 NA
9-18770757-G-T p.Trp792Leu missense ADAMTSL1 3 82516 3.63566E-5 41258 0 5.03525E-4
9-18770767-A-G p.Ser795Ser synonymous ADAMTSL1 1 82466 1.21262E-5 41233 0 3.1837E-5
9-18775747-A-G p.Thr802Ala missense ADAMTSL1 4 82812 4.83022E-5 41406 0 6.25E-4
9-18775758-G-A p.Gly805Gly synonymous ADAMTSL1 2 82816 2.41499E-5 41408 0 NA
9-18775775-G-C p.Arg811Pro missense ADAMTSL1 1 82818 1.20747E-5 41409 0 NA
9-18775776-A-C p.Arg811Arg synonymous ADAMTSL1 4 82822 4.82963E-5 41411 0 7.55458E-5
9-18775779-C-T p.Ser812Ser synonymous ADAMTSL1 2 82814 2.41505E-5 41407 0 1.62064E-5
9-18775779-C-A p.Ser812Arg missense ADAMTSL1 1 82814 1.20753E-5 41407 0 NA
9-18775780-G-A p.Ala813Thr missense ADAMTSL1 2 82826 2.4147E-5 41413 0 1.4204E-4
9-18775790-G-A p.Arg816Gln missense ADAMTSL1 4 82830 4.82917E-5 41415 0 0.00100705
9-18775790-G-C p.Arg816Pro missense ADAMTSL1 1 82830 1.20729E-5 41415 0 NA
9-18775806-C-T p.Thr821Thr synonymous ADAMTSL1 2 82812 2.41511E-5 41406 0 3.85654E-5
9-18775807-G-A p.Gly822Ser missense ADAMTSL1 4 82806 4.83057E-5 41403 0 0.00100705
9-18775808-G-A p.Gly822Asp missense ADAMTSL1 42 82800 5.07246E-4 41400 1 0.00100705
9-18775808-GCC-ACA p.GlyLeu822AspIle missense ADAMTSL1 40 82802 4.8308E-4 41401 0 NA
9-18775810-C-A p.Leu823Ile missense ADAMTSL1 37645 82500 0.456303 41250 8722 0.523125
9-18775815-A-T p.Ser824Ser synonymous ADAMTSL1 6 82804 7.24603E-5 41402 0 1.27437E-4
9-18775816-A-G p.Thr825Ala missense ADAMTSL1 2 82796 2.41558E-5 41398 0 NA
9-18775818-G-A p.Thr825Thr synonymous ADAMTSL1 1 82790 1.20788E-5 41395 0 0.00100705
9-18775822-G-A p.Val827Ile missense ADAMTSL1 1 82768 1.2082E-5 41384 0 8.07289E-5
9-18775825-A-G p.Asn828Asp missense ADAMTSL1 1 82762 1.20828E-5 41381 0 1.16752E-5
9-18775826-A-G p.Asn828Ser missense ADAMTSL1 11 82756 1.32921E-4 41378 0 7.05949E-5
9-18775831-A-T p.Thr830Ser missense ADAMTSL1 1 82704 1.20913E-5 41352 0 NA
9-18775842-G-T p.Pro833Pro synonymous ADAMTSL1 3 82722 3.6266E-5 41361 0 1.36687E-5
9-18775867-A-C p.Arg842Arg synonymous ADAMTSL1 1 82676 1.20954E-5 41338 0 3.18573E-5
9-18775868-G-A p.Arg842Lys missense ADAMTSL1 21 82662 2.54047E-4 41331 0 6.0525E-4
9-18775879-C-T p.Leu846Leu synonymous ADAMTSL1 8 82622 9.68265E-5 41311 0 3.18451E-5
9-18775889-G-A p.Cys849Tyr missense ADAMTSL1 2 82602 2.42125E-5 41301 0 4.68516E-6
9-18775890-T-C p.Cys849Cys synonymous ADAMTSL1 1 82586 1.21086E-5 41293 0 NA
9-18775891-G-C p.Ala850Pro missense ADAMTSL1 2 82584 2.42178E-5 41292 0 NA
9-18775895-G-T c.2551+1G>T splice_donor ADAMTSL1 2 82560 2.42248E-5 41280 0 4.73624E-6
9-18775900-T-C c.2551+6T>C splice_region ADAMTSL1 1 82512 1.21194E-5 41256 0 NA
9-18776778-GGGCCCGGGC-G p.Gly853_Pro855del disruptive_inframe_deletion ADAMTSL1 1 79964 1.25056E-5 39982 0 NA
9-18776783-C-A p.Pro852Pro synonymous ADAMTSL1 1 80050 1.24922E-5 40025 0 0.00125156
9-18776784-G-A p.Gly853Arg missense ADAMTSL1 3869 79918 0.0484121 39959 104 0.0944931
9-18776788-G-A p.Arg854Gln missense ADAMTSL1 1 80228 1.24645E-5 40114 0 NA
9-18776795-C-A p.Ser856Ser synonymous ADAMTSL1 1 80494 1.24233E-5 40247 0 3.1588E-5
9-18776796-A-G p.Thr857Ala missense ADAMTSL1 4 80524 4.96746E-5 40262 0 NA
9-18776801-G-C p.Lys858Asn missense ADAMTSL1 1 80618 1.24042E-5 40309 0 3.01605E-4
9-18776804-C-T p.His859His synonymous ADAMTSL1 1 80684 1.2394E-5 40342 0 NA
9-18776809-C-G p.Pro861Arg missense ADAMTSL1 1 80846 1.23692E-5 40423 0 6.37714E-5
9-18776810-GC-TT p.ProHis861ProTyr missense ADAMTSL1 1 80842 1.23698E-5 40421 0 NA
9-18776819-G-A p.Ala864Ala synonymous ADAMTSL1 4730 80960 0.0584239 40480 147 0.109257
9-18776822-C-T p.Ala865Ala synonymous ADAMTSL1 1 81148 1.23232E-5 40574 0 5.19567E-6
9-18776823-G-T p.Ala866Ser missense ADAMTSL1 10 81130 1.23259E-4 40565 0 1.76479E-4
9-18776826-A-G p.Arg867Gly missense ADAMTSL1 14 81252 1.72303E-4 40626 0 0.00110533
9-18776834-C-T p.Val869Val synonymous ADAMTSL1 4 81378 4.91533E-5 40689 0 1.40272E-5
9-18776840-A-C p.Ile871Ile synonymous ADAMTSL1 75169 80868 0.929527 40434 34966 0.956875
9-18776843-G-C p.Gln872His missense ADAMTSL1 1 81404 1.22844E-5 40702 0 NA
9-18776858-G-A p.Arg877Arg synonymous ADAMTSL1 1 81476 1.22736E-5 40738 0 NA
9-18776868-T-C p.Phe881Leu missense ADAMTSL1 1 81430 1.22805E-5 40715 0 NA
9-18776870-C-G p.Phe881Leu missense ADAMTSL1 2 81432 2.45604E-5 40716 0 NA
9-18776878-G-A p.Gly884Glu missense ADAMTSL1 1 81410 1.22835E-5 40705 0 3.09789E-5
9-18776891-C-T p.Tyr888Tyr synonymous ADAMTSL1 1 81354 1.2292E-5 40677 0 NA
9-18776892-C-A p.Leu889Met missense ADAMTSL1 1 81366 1.22901E-5 40683 0 NA
9-18776894-G-C p.Leu889Leu synonymous ADAMTSL1 4 81316 4.91908E-5 40658 0 5.70461E-5
9-18776894-G-T p.Leu889Leu synonymous ADAMTSL1 12 81318 1.47569E-4 40659 0 1.90154E-4
9-18776898-C-T p.Pro891Ser missense ADAMTSL1 1 81400 1.2285E-5 40700 0 NA
9-18776904-A-C p.Thr893Pro missense ADAMTSL1 3 81284 3.69076E-5 40642 0 3.18878E-5
9-18776906-G-A p.Thr893Thr synonymous ADAMTSL1 2 81288 2.46039E-5 40644 0 9.21014E-6
9-18776906-G-T p.Thr893Thr synonymous ADAMTSL1 2 81288 2.46039E-5 40644 0 1.84203E-5
9-18776907-GC-TT p.Ala894Leu missense ADAMTSL1 1 81256 1.23068E-5 40628 0 NA
9-18776909-G-T p.Ala894Ala synonymous ADAMTSL1 8 81286 9.84179E-5 40643 0 2.87008E-4
9-18776924-C-T p.Cys899Cys synonymous ADAMTSL1 1 81236 1.23098E-5 40618 0 NA
9-18776926-C-T p.Pro900Leu missense ADAMTSL1 1 81222 1.23119E-5 40611 0 9.03179E-6
9-18776927-G-C p.Pro900Pro synonymous ADAMTSL1 2 81220 2.46245E-5 40610 0 6.31963E-5
9-18776930-G-A p.Ala901Ala synonymous ADAMTSL1 1 81202 1.2315E-5 40601 0 4.23288E-6
9-18776931-C-T p.Arg902Cys missense ADAMTSL1 17 81202 2.09354E-4 40601 0 3.50743E-4
9-18776936-G-C p.Arg903Ser missense ADAMTSL1 1 81388 1.22868E-5 40694 0 1.34332E-4
9-18776961-G-T p.Glu912* stop_gained ADAMTSL1 2 81896 2.44212E-5 40948 0 NA
9-18776969-C-T p.Asp914Asp synonymous ADAMTSL1 2 81898 2.44206E-5 40949 0 1.75846E-5
9-18776970-G-T p.Gly915Cys missense ADAMTSL1 2 81884 2.44248E-5 40942 0 3.19081E-4
9-18776971-G-A p.Gly915Asp missense ADAMTSL1 4 81886 4.88484E-5 40943 0 1.80109E-4
9-18776977-A-G p.His917Arg missense ADAMTSL1 2 81854 2.44337E-5 40927 0 NA
9-18776990-G-C p.Ser921Ser synonymous ADAMTSL1 3 81810 3.66703E-5 40905 0 8.71156E-6
9-18776994-C-T p.His923Tyr missense ADAMTSL1 2 81834 2.44397E-5 40917 0 NA
9-18776997-G-A p.Val924Ile missense ADAMTSL1 34 81868 4.15303E-4 40934 0 6.37471E-4
9-18777000-A-G p.Thr925Ala missense ADAMTSL1 3 81844 3.66551E-5 40922 0 1.2751E-4
9-18777001-C-T p.Thr925Met missense ADAMTSL1 1 81844 1.22184E-5 40922 0 NA
9-18777010-C-A p.Pro928His missense ADAMTSL1 1 81824 1.22214E-5 40912 0 6.37471E-5
9-18777015-G-A p.Gly930Ser missense ADAMTSL1 1 81788 1.22267E-5 40894 0 6.25E-4
9-18777019-A-C p.Tyr931Ser missense ADAMTSL1 7 81818 8.55557E-5 40909 0 9.56511E-5
9-18777033-C-A p.Arg936Ser missense ADAMTSL1 2 81794 2.44517E-5 40897 0 2.55907E-5
9-18777034-G-A p.Arg936His missense ADAMTSL1 8 81750 9.78593E-5 40875 0 1.70422E-5
9-18777044-C-T p.Pro939Pro synonymous ADAMTSL1 3 81804 3.6673E-5 40902 0 1.69644E-5
9-18777045-T-A p.Ser940Thr missense ADAMTSL1 1 81786 1.2227E-5 40893 0 NA
9-18777050-T-C p.Asp941Asp synonymous ADAMTSL1 1 81764 1.22303E-5 40882 0 8.06875E-6
9-18777056-C-T p.Gly943Gly synonymous ADAMTSL1 4 81704 4.89572E-5 40852 0 1.60943E-4
9-18777058-T-C p.Val944Ala missense ADAMTSL1 1 81706 1.2239E-5 40853 0 NA
9-18777065-C-T p.Thr946Thr synonymous ADAMTSL1 1 81692 1.22411E-5 40846 0 1.21019E-5
9-18777066-T-A p.Cys947Ser missense ADAMTSL1 2 81666 2.449E-5 40833 0 NA
9-18777073-C-T p.Ala949Val missense ADAMTSL1 1 81590 1.22564E-5 40795 0 1.69955E-5
9-18777074-G-A p.Ala949Ala synonymous ADAMTSL1 15 81598 1.83828E-4 40799 0 0.00125313
9-18777082-C-A p.Ala952Asp missense ADAMTSL1 1 81504 1.22693E-5 40752 0 NA
9-18777084-C-G p.Arg953Gly missense ADAMTSL1 1 81528 1.22657E-5 40764 0 3.1902E-5
9-18777084-C-A p.Arg953Arg synonymous ADAMTSL1 1 81528 1.22657E-5 40764 0 NA
9-18777085-G-A p.Arg953Gln missense ADAMTSL1 10 81504 1.22693E-4 40752 0 1.8209E-4
9-18777085-G-C p.Arg953Pro missense ADAMTSL1 1 81506 1.2269E-5 40753 0 8.09291E-6
9-18777089-G-A p.Glu954Glu synonymous ADAMTSL1 3 81470 3.68234E-5 40735 0 NA
9-18777092-C-T p.His955His synonymous ADAMTSL1 2 81510 2.45369E-5 40755 0 8.52966E-6
9-18777095-T-C p.Phe956Phe synonymous ADAMTSL1 8 81494 9.81667E-5 40747 0 1.70631E-5
9-18777096-G-T p.Val957Leu missense ADAMTSL1 1 81498 1.22702E-5 40749 0 NA
9-18777098-G-A p.Val957Val synonymous ADAMTSL1 7 81510 8.5879E-5 40755 0 5.97616E-5
9-18777108-A-T p.Ile961Phe missense ADAMTSL1 1 81482 1.22726E-5 40741 0 8.1082E-6
9-18777110-C-T p.Ile961Ile synonymous ADAMTSL1 6 81444 7.36702E-5 40722 0 6.8984E-5
9-18777118-A-C p.Asn964Thr missense ADAMTSL1 1 81348 1.22929E-5 40674 0 3.18756E-5
9-18777126-C-A p.Leu967Ile missense ADAMTSL1 2 81398 2.45706E-5 40699 0 NA
9-18777129-G-A p.Val968Met missense ADAMTSL1 2 81396 2.45712E-5 40698 0 NA
9-18777134-C-G p.Ala969Ala synonymous ADAMTSL1 1 81378 1.22883E-5 40689 0 4.06729E-6
9-18777135-C-T p.Arg970Trp missense ADAMTSL1 3 81396 3.68568E-5 40698 0 4.06762E-6
9-18777136-G-A p.Arg970Gln missense ADAMTSL1 2 81382 2.45755E-5 40691 0 4.06775E-6
9-18777138-C-T p.Pro971Ser missense ADAMTSL1 6 81376 7.37318E-5 40688 0 9.55962E-5
9-18777139-C-T p.Pro971Leu missense ADAMTSL1 2 81450 2.45549E-5 40725 0 1.72102E-5
9-18777142-T-G p.Leu972Trp missense ADAMTSL1 2 81480 2.45459E-5 40740 0 3.18776E-5
9-18777143-G-A p.Leu972Leu synonymous ADAMTSL1 2 81480 2.45459E-5 40740 0 NA
9-18777148-C-G p.Pro974Arg missense ADAMTSL1 4 81474 4.90954E-5 40737 0 1.72203E-5
9-18777148-C-T p.Pro974Leu missense ADAMTSL1 1 81474 1.22739E-5 40737 0 5.03525E-4
9-18777151-G-A p.Arg975Lys missense ADAMTSL1 1 81508 1.22687E-5 40754 0 8.61074E-6
9-18777152-A-T p.Arg975Ser missense ADAMTSL1 1 81520 1.22669E-5 40760 0 4.07113E-6
9-18777167-G-T p.Val980Val synonymous ADAMTSL1 2 81666 2.449E-5 40833 0 4.07259E-6
9-18777169-T-C p.Leu981Pro missense ADAMTSL1 1 81668 1.22447E-5 40834 0 6.3804E-5
9-18777171-G-A p.Ala982Thr missense ADAMTSL1 5 81666 6.1225E-5 40833 0 9.55962E-5
9-18777173-G-T p.Ala982Ala synonymous ADAMTSL1 1 81690 1.22414E-5 40845 0 NA
9-18777176-G-T p.Gly983Gly synonymous ADAMTSL1 1 81716 1.22375E-5 40858 0 1.22194E-5
9-18777177-A-T p.Arg984Trp missense ADAMTSL1 1 81684 1.22423E-5 40842 0 3.19E-5
9-18777178-G-C p.Arg984Thr missense ADAMTSL1 3 81718 3.67116E-5 40859 0 3.18756E-5
9-18777187-G-C p.Gly987Ala missense ADAMTSL1 1 81692 1.22411E-5 40846 0 6.37796E-5
9-18777190-C-G p.Pro988Arg missense ADAMTSL1 6 81698 7.34412E-5 40849 0 6.90465E-5
9-18777191-G-A p.Pro988Pro synonymous ADAMTSL1 1 81712 1.22381E-5 40856 0 4.07468E-6
9-18777196-A-C p.Glu990Ala missense ADAMTSL1 10208 81540 0.12519 40770 748 0.137502
9-18777199-C-G p.Ala991Gly missense ADAMTSL1 1 81680 1.22429E-5 40840 0 NA
9-18777201-C-T p.Leu992Leu synonymous ADAMTSL1 2 81718 2.44744E-5 40859 0 NA
9-18777211-A-G p.His995Arg missense ADAMTSL1 2 81688 2.44834E-5 40844 0 6.94481E-5
9-18777213-A-G p.Lys996Glu missense ADAMTSL1 1 81670 1.22444E-5 40835 0 NA
9-18777227-G-T p.Gly1000Gly synonymous ADAMTSL1 10 81572 1.22591E-4 40786 0 3.50564E-4
9-18777227-G-A p.Gly1000Gly synonymous ADAMTSL1 2 81572 2.45182E-5 40786 0 2.04402E-5
9-18777231-T-C p.Phe1002Leu missense ADAMTSL1 6 81532 7.35907E-5 40766 0 1.02287E-4
9-18777233-C-G p.Phe1002Leu missense ADAMTSL1 1 81502 1.22696E-5 40751 0 NA
9-18777235-C-T p.Ser1003Phe missense ADAMTSL1 1 81458 1.22763E-5 40729 0 1.07221E-4
9-18777237-A-G p.Asn1004Asp missense ADAMTSL1 1 81418 1.22823E-5 40709 0 4.10314E-6
9-18777239-C-T p.Asn1004Asn synonymous ADAMTSL1 793 81374 0.00974513 40687 24 0.0195178
9-18777252-G-C p.Glu1009Gln missense ADAMTSL1 2 81118 2.46554E-5 40559 0 NA
9-18777261-G-A p.Gly1012Ser missense ADAMTSL1 1 80926 1.2357E-5 40463 0 3.04897E-5
9-18777268-C-T p.Ala1014Val missense ADAMTSL1 2914 80684 0.0361162 40342 68 0.04375
9-18777269-C-A p.Ala1014Ala synonymous ADAMTSL1 1 80784 1.23787E-5 40392 0 NA
9-18777269-C-T p.Ala1014Ala synonymous ADAMTSL1 1 80784 1.23787E-5 40392 0 NA
9-18777270-G-A p.Ala1015Thr missense ADAMTSL1 5 80708 6.19517E-5 40354 0 2.19063E-5
9-18777275-C-T p.Asn1016Asn synonymous ADAMTSL1 10 80832 1.23713E-4 40416 1 0.0025
9-18777277-C-T p.Pro1017Leu missense ADAMTSL1 3 80812 3.71232E-5 40406 0 1.13209E-5
9-18777278-G-A p.Pro1017Pro synonymous ADAMTSL1 4 80928 4.94266E-5 40464 0 4.40723E-5
9-18777281-G-A p.Gly1018Gly synonymous ADAMTSL1 3 80956 3.70572E-5 40478 0 5.05051E-4
9-18777283-G-A p.Ser1019Asn missense ADAMTSL1 1 80924 1.23573E-5 40462 0 1.71556E-5
9-18777284-C-T p.Ser1019Ser synonymous ADAMTSL1 1 80918 1.23582E-5 40459 0 NA
9-18777284-C-G p.Ser1019Arg missense ADAMTSL1 1 80918 1.23582E-5 40459 0 4.31228E-6
9-18777291-G-A p.Asp1022Asn missense ADAMTSL1 1 80964 1.23512E-5 40482 0 NA
9-18777293-C-T p.Asp1022Asp synonymous ADAMTSL1 3 80956 3.70572E-5 40478 0 6.37511E-5
9-18777300-G-A p.Val1025Ile missense ADAMTSL1 1 81020 1.23426E-5 40510 0 3.18817E-5
9-18777300-G-C p.Val1025Leu missense ADAMTSL1 1 81020 1.23426E-5 40510 0 NA
9-18777302-C-T p.Val1025Val synonymous ADAMTSL1 1 81048 1.23384E-5 40524 0 3.18674E-5
9-18777304-C-T p.Ser1026Phe missense ADAMTSL1 1518 81032 0.0187333 40516 28 0.0207149
9-18777315-G-C p.Glu1030Gln missense ADAMTSL1 4 81150 4.92914E-5 40575 0 3.78444E-5
9-18777319-A-G p.Gln1031Arg missense ADAMTSL1 3 81172 3.69586E-5 40586 0 5.05051E-4
9-18777329-G-T p.Trp1034Cys missense ADAMTSL1 1 81160 1.23213E-5 40580 0 NA
9-18777332-C-T p.Pro1035Pro synonymous ADAMTSL1 1 81172 1.23195E-5 40586 0 9.56023E-5
9-18777333-G-A p.Gly1036Arg missense ADAMTSL1 6 81172 7.39171E-5 40586 0 3.80887E-4
9-18777339-C-T p.Leu1038Leu synonymous ADAMTSL1 3 81206 3.69431E-5 40603 0 1.59337E-4
9-18777349-C-T p.Ser1041Leu missense ADAMTSL1 1 81230 1.23107E-5 40615 0 NA
9-18777353-G-C p.Trp1042Cys missense ADAMTSL1 10 81274 1.23041E-4 40637 0 3.18756E-5
9-18777359-G-A p.Ala1044Ala synonymous ADAMTSL1 4 81232 4.92417E-5 40616 0 1.31399E-5
9-18777365-C-A p.Asp1046Glu missense ADAMTSL1 1 81300 1.23001E-5 40650 0 NA
9-18777368-T-C p.Ser1047Ser synonymous ADAMTSL1 56656 80582 0.703085 40291 19935 0.744375
9-18777368-TG-CA p.SerAla1047SerThr missense ADAMTSL1 1 81314 1.2298E-5 40657 0 NA
9-18777370-C-T p.Ala1048Val missense ADAMTSL1 5 81294 6.15052E-5 40647 0 3.18939E-5
9-18777386-C-T p.Thr1053Thr synonymous ADAMTSL1 1 81398 1.22853E-5 40699 0 3.18756E-5
9-18777400-C-T p.Pro1058Leu missense ADAMTSL1 1 81398 1.22853E-5 40699 0 NA
9-18777401-G-A p.Pro1058Pro synonymous ADAMTSL1 162 81364 0.00199105 40682 1 0.00319081
9-18777410-G-T p.Glu1061Asp missense ADAMTSL1 1 81432 1.22802E-5 40716 0 NA
9-18777416-G-A p.Val1063Val synonymous ADAMTSL1 8 81436 9.82367E-5 40718 0 4.45824E-6
9-18777422-G-A p.Leu1065Leu synonymous ADAMTSL1 12292 81232 0.15132 40616 1101 0.195778
9-18777423-C-T p.His1066Tyr missense ADAMTSL1 1 81442 1.22787E-5 40721 0 NA
9-18777426-C-G p.Leu1067Val missense ADAMTSL1 2 81462 2.45513E-5 40731 0 4.52063E-6
9-18777435-A-C p.Thr1070Pro missense ADAMTSL1 1 81516 1.22675E-5 40758 0 NA
9-18777446-C-T p.Thr1073Thr synonymous ADAMTSL1 1 81474 1.22739E-5 40737 0 NA
9-18777447-G-C p.Glu1074Gln missense ADAMTSL1 1 81496 1.22705E-5 40748 0 NA
9-18777447-G-A p.Glu1074Lys missense ADAMTSL1 1 81496 1.22705E-5 40748 0 4.65333E-6
9-18777453-C-A p.Arg1076Arg synonymous ADAMTSL1 1 81480 1.2273E-5 40740 0 1.95906E-4
9-18777454-G-A p.Arg1076Gln missense ADAMTSL1 1 81476 1.22736E-5 40738 0 NA
9-18777461-G-A p.Leu1078Leu synonymous ADAMTSL1 15 81500 1.84049E-4 40750 0 0.00125
9-18777464-C-T p.Asp1079Asp synonymous ADAMTSL1 14 81456 1.71872E-4 40728 0 4.14113E-4
9-18777469-T-G p.Ile1081Ser missense ADAMTSL1 1 81446 1.22781E-5 40723 0 NA
9-18777474-G-C p.Gly1083Arg missense ADAMTSL1 1 81416 1.22826E-5 40708 0 NA
9-18777474-G-A p.Gly1083Arg missense ADAMTSL1 1 81416 1.22826E-5 40708 0 NA
9-18777475-G-A p.Gly1083Glu missense ADAMTSL1 2 81412 2.45664E-5 40706 0 NA
9-18777483-T-C p.Ser1086Pro missense ADAMTSL1 1 81374 1.22889E-5 40687 0 NA
9-18777494-C-G p.Pro1089Pro synonymous ADAMTSL1 4 81270 4.92187E-5 40635 0 1.00338E-4
9-18777495-G-C p.Glu1090Gln missense ADAMTSL1 1 81302 1.22998E-5 40651 0 NA
9-18777501-C-G p.Leu1092Val missense ADAMTSL1 1 81266 1.23053E-5 40633 0 4.61966E-6
9-18777506-C-T p.Arg1093Arg synonymous ADAMTSL1 1 81200 1.23153E-5 40600 0 NA
9-18777525-C-G p.Leu1100Val missense ADAMTSL1 1 81324 1.22965E-5 40662 0 NA
9-18777525-C-T p.Leu1100Leu synonymous ADAMTSL1 1 81324 1.22965E-5 40662 0 NA
9-18777535-A-G p.Gln1103Arg missense ADAMTSL1 1 81274 1.23041E-5 40637 0 NA
9-18777537-C-T p.Leu1104Leu synonymous ADAMTSL1 1 81222 1.23119E-5 40611 0 NA
9-18777548-G-T p.Glu1107Asp missense ADAMTSL1 1 81340 1.22941E-5 40670 0 NA
9-18777557-C-T p.Arg1110Arg synonymous ADAMTSL1 1 81406 1.22841E-5 40703 0 NA
9-18777560-C-T p.Ser1111Ser synonymous ADAMTSL1 2 81442 2.45574E-5 40721 0 1.32331E-5
9-18777564-C-G p.Leu1113Val missense ADAMTSL1 1 81546 1.2263E-5 40773 0 4.19284E-6
9-18777569-G-T p.Glu1114Asp missense ADAMTSL1 2 81558 2.45224E-5 40779 0 NA
9-18777582-C-G p.Leu1119Val missense ADAMTSL1 2 81712 2.44762E-5 40856 0 6.37349E-5
9-18777592-C-G p.Pro1122Arg missense ADAMTSL1 1 81838 1.22193E-5 40919 0 NA
9-18777593-C-G p.Pro1122Pro synonymous ADAMTSL1 1 81862 1.22157E-5 40931 0 1.02337E-5
9-18777596-G-A p.Ser1123Ser synonymous ADAMTSL1 38 81866 4.64173E-4 40933 0 7.01531E-4
9-18777601-G-A p.Arg1125His missense ADAMTSL1 597 81910 0.00728849 40955 3 0.00956697
9-18777607-C-G p.Thr1127Ser missense ADAMTSL1 1 82010 1.21936E-5 41005 0 3.18857E-5
9-18777618-A-G p.Thr1131Ala missense ADAMTSL1 1 82066 1.21853E-5 41033 0 NA
9-18777620-T-C p.Thr1131Thr synonymous ADAMTSL1 3 82066 3.65559E-5 41033 0 4.02534E-6
9-18777621-C-G p.Leu1132Val missense ADAMTSL1 2 82068 2.437E-5 41034 0 1.69071E-4
9-18777625-C-G p.Ser1133Trp missense ADAMTSL1 1 82102 1.218E-5 41051 0 8.71308E-6
9-18777627-C-A p.Pro1134Thr missense ADAMTSL1 1 82098 1.21806E-5 41049 0 NA
9-18777638-C-T p.His1137His synonymous ADAMTSL1 1 82140 1.21743E-5 41070 0 3.18735E-5
9-18777659-C-G p.Ser1144Ser synonymous ADAMTSL1 1 82104 1.21797E-5 41052 0 4.03067E-6
9-18777672-T-C p.Ser1149Pro missense ADAMTSL1 2 82064 2.43712E-5 41032 0 4.03512E-6
9-18777673-C-A p.Ser1149Tyr missense ADAMTSL1 1 82076 1.21838E-5 41038 0 4.03757E-6
9-18777676-C-G p.Thr1150Ser missense ADAMTSL1 2 82054 2.43742E-5 41027 0 3.18654E-5
9-18777679-G-C p.Gly1151Ala missense ADAMTSL1 1 82042 1.21889E-5 41021 0 6.37471E-5
9-18777680-G-A p.Gly1151Gly synonymous ADAMTSL1 1 82026 1.21913E-5 41013 0 NA
9-18777686-C-T p.Ala1153Ala synonymous ADAMTSL1 1 81942 1.22038E-5 40971 0 NA
9-18777694-G-A p.Gly1156Asp missense ADAMTSL1 1 81924 1.22064E-5 40962 0 1.70323E-5
9-18777700-G-A p.Arg1158Gln missense ADAMTSL1 1 81836 1.22196E-5 40918 0 NA
9-18777700-G-C p.Arg1158Pro missense ADAMTSL1 3 81834 3.66596E-5 40917 0 NA
9-18777706-C-A p.Pro1160Gln missense ADAMTSL1 8 81736 9.78761E-5 40868 0 1.59297E-4
9-18777711-C-T p.Arg1162Cys missense ADAMTSL1 1 81674 1.22438E-5 40837 0 3.18552E-5
9-18777712-G-C p.Arg1162Pro missense ADAMTSL1 3 81620 3.67557E-5 40810 0 8.52573E-6
9-18777722-C-T p.Thr1165Thr synonymous ADAMTSL1 2 81586 2.4514E-5 40793 0 3.39605E-5
9-18777740-A-G p.Ser1171Ser synonymous ADAMTSL1 546 81184 0.00672546 40592 14 0.0139837
9-18777741-G-T p.Ala1172Ser missense ADAMTSL1 2 81142 2.46481E-5 40571 0 NA
9-18777759-G-A p.Ala1178Thr missense ADAMTSL1 1 80962 1.23515E-5 40481 0 NA
9-18777761-C-T p.Ala1178Ala synonymous ADAMTSL1 1 80972 1.23499E-5 40486 0 NA
9-18777763-C-G p.Ser1179Trp missense ADAMTSL1 1 80918 1.23582E-5 40459 0 0.0025
9-18777769-T-C p.Val1181Ala missense ADAMTSL1 1 80918 1.23582E-5 40459 0 NA
9-18777773-C-T p.Val1182Val synonymous ADAMTSL1 1 80894 1.23619E-5 40447 0 NA
9-18777777-C-A p.His1184Asn missense ADAMTSL1 1 80934 1.23557E-5 40467 0 3.18552E-5
9-18777779-C-T p.His1184His synonymous ADAMTSL1 3 81002 3.70361E-5 40501 0 4.87108E-5
9-18777790-C-T p.Thr1188Met missense ADAMTSL1 18 81068 2.22036E-4 40534 0 1.91156E-4
9-18777791-G-A p.Thr1188Thr synonymous ADAMTSL1 9 81052 1.1104E-4 40526 0 8.11932E-5
9-18777804-A-G p.Ser1193Gly missense ADAMTSL1 1 81156 1.23219E-5 40578 0 4.05818E-6
9-18777810-A-G p.Thr1195Ala missense ADAMTSL1 1 81194 1.23162E-5 40597 0 NA
9-18777837-G-A p.Ala1204Thr missense ADAMTSL1 1 81344 1.22935E-5 40672 0 NA
9-18777841-T-C p.Ile1205Thr missense ADAMTSL1 8 81296 9.84058E-5 40648 0 2.86752E-4
9-18777842-C-T p.Ile1205Ile synonymous ADAMTSL1 2 81308 2.45978E-5 40654 0 2.59934E-5
9-18777850-C-T p.Pro1208Leu missense ADAMTSL1 1 81304 1.22995E-5 40652 0 NA
9-18777855-C-A p.Pro1210Thr missense ADAMTSL1 1 81354 1.2292E-5 40677 0 8.81088E-6
9-18777856-C-T p.Pro1210Leu missense ADAMTSL1 2 81366 2.45803E-5 40683 0 2.20832E-5
9-18777872-C-G p.Ala1215Ala synonymous ADAMTSL1 3 81314 3.6894E-5 40657 0 9.55536E-5
9-18777876-A-G p.Asn1217Asp missense ADAMTSL1 7 81302 8.60987E-5 40651 0 9.08447E-6
9-18777878-T-C p.Asn1217Asn synonymous ADAMTSL1 1 81326 1.22962E-5 40663 0 9.08595E-6
9-18777882-G-A p.Glu1219Lys missense ADAMTSL1 4 81238 4.9238E-5 40619 0 4.96027E-4
9-18777888-G-GT p.Gln1222fs frameshift ADAMTSL1 1 81148 1.23232E-5 40574 0 NA
9-18777907-G-A c.3677+3G>A splice_region ADAMTSL1 2 80220 2.49314E-5 40110 0 9.20505E-6
9-18777910-C-T c.3677+6C>T splice_region ADAMTSL1 1 79946 1.25084E-5 39973 0 6.25E-4
9-18795387-C-T c.3678-8C>T splice_region ADAMTSL1 554 82436 0.00672037 41218 5 0.00509297
9-18795388-G-A c.3678-7G>A splice_region ADAMTSL1 9 82452 1.09154E-4 41226 0 7.64385E-5
9-18795417-T-C p.Ser1234Pro missense ADAMTSL1 2 82478 2.42489E-5 41239 0 NA
9-18795419-C-T p.Ser1234Ser synonymous ADAMTSL1 1 82474 1.2125E-5 41237 0 NA
9-18795435-C-A p.Pro1240Thr missense ADAMTSL1 1 82438 1.21303E-5 41219 0 1.20449E-5
9-18795435-C-G p.Pro1240Ala missense ADAMTSL1 1 82438 1.21303E-5 41219 0 NA
9-18795438-G-A p.Val1241Met missense ADAMTSL1 1 82438 1.21303E-5 41219 0 4.015E-6
9-18795439-T-C p.Val1241Ala missense ADAMTSL1 2 82426 2.42642E-5 41213 0 3.1841E-5
9-18795449-T-C p.Asp1244Asp synonymous ADAMTSL1 6 82394 7.28208E-5 41197 0 NA
9-18795467-C-T p.Cys1250Cys synonymous ADAMTSL1 4 82368 4.85625E-5 41184 0 6.25E-4
9-18795469-A-G p.Asn1251Ser missense ADAMTSL1 8 82370 9.71227E-5 41185 0 1.91083E-4
9-18795478-A-G p.Asn1254Ser missense ADAMTSL1 1 82298 1.2151E-5 41149 0 4.28522E-5
9-18795491-C-T p.Tyr1258Tyr synonymous ADAMTSL1 5 82172 6.0848E-5 41086 0 3.62751E-5
9-18795492-G-A p.Asp1259Asn missense ADAMTSL1 1 82168 1.21702E-5 41084 0 3.18431E-5
9-18795501-T-C p.Ser1262Pro missense ADAMTSL1 5 82106 6.08969E-5 41053 0 3.18431E-5
9-18795510-G-A p.Val1265Ile missense ADAMTSL1 4 81990 4.87864E-5 40995 0 6.28496E-5
9-18795519-G-A p.Ala1268Thr missense ADAMTSL1 1 81840 1.2219E-5 40920 0 4.18526E-6
9-18817094-TTCTTA-T c.3806-12_3806-8delTCTTA splice_region ADAMTSL1 7 82744 8.45983E-5 41372 0 2.20259E-4
9-18817100-T-C c.3806-7T>C splice_region ADAMTSL1 28 82738 3.38418E-4 41369 1 2.54761E-4
9-18817125-C-T p.Thr1275Met missense ADAMTSL1 3 82742 3.62573E-5 41371 0 5.03525E-4
9-18817126-G-A p.Thr1275Thr synonymous ADAMTSL1 3 82732 3.62617E-5 41366 0 5.03525E-4
9-18817128-C-T p.Ser1276Leu missense ADAMTSL1 2 82728 2.41756E-5 41364 0 3.18532E-5
9-18817130-C-T p.Arg1277* stop_gained ADAMTSL1 1 82722 1.20887E-5 41361 0 NA
9-18817138-A-C p.Thr1279Thr synonymous ADAMTSL1 1 82710 1.20904E-5 41355 0 4.28005E-6
9-18817164-T-A p.Val1288Asp missense ADAMTSL1 1 82694 1.20928E-5 41347 0 NA
9-18817171-C-T p.Val1290Val synonymous ADAMTSL1 2 82680 2.41896E-5 41340 0 2.00602E-5
9-18817171-C-A p.Val1290Val synonymous ADAMTSL1 1 82680 1.20948E-5 41340 0 NA
9-18817174-T-C p.Asp1291Asp synonymous ADAMTSL1 1 82674 1.20957E-5 41337 0 4.23693E-5
9-18817176-T-C p.Ile1292Thr missense ADAMTSL1 2 82660 2.41955E-5 41330 0 6.54051E-5
9-18817185-C-G p.Thr1295Ser missense ADAMTSL1 1 82642 1.21004E-5 41321 0 0.00151057
9-18817188-T-C p.Ile1296Thr missense ADAMTSL1 1 82632 1.21018E-5 41316 0 NA
9-18817198-G-A p.Val1299Val synonymous ADAMTSL1 3 82604 3.63179E-5 41302 0 5.98982E-5
9-18817207-G-C p.Val1302Val synonymous ADAMTSL1 1 82580 1.21095E-5 41290 0 NA
9-18817211-G-A p.Val1304Met missense ADAMTSL1 20 82558 2.42254E-4 41279 0 9.87135E-4
9-18817214-A-G p.Thr1305Ala missense ADAMTSL1 1 82546 1.21145E-5 41273 0 NA
9-18817221-A-C p.Asn1307Thr missense ADAMTSL1 4 82516 4.84754E-5 41258 0 6.09021E-6
9-18817235-G-A p.Gly1312Arg missense+splice_region ADAMTSL1 2 82388 2.42754E-5 41194 0 6.28046E-6
9-18817236-G-A c.3934+1G>A splice_donor ADAMTSL1 1 82388 1.21377E-5 41194 0 NA
9-18826254-GT-G p.Cys6fs frameshift ADAMTSL1 1 81058 1.23368E-5 40529 0 NA
9-18826260-T-C p.Cys6Arg missense ADAMTSL1 13 81300 1.59902E-4 40650 0 1.75423E-4
9-18826260-T-A p.Cys6Ser missense ADAMTSL1 1 81300 1.23001E-5 40650 0 NA
9-18826261-GT-G p.Phe10fs frameshift ADAMTSL1 43679 67598 0.646158 33799 11732 0.806277
9-18826261-GTT-G p.Phe10fs frameshift ADAMTSL1 301 81250 0.00370462 40625 3 0.0227378
9-18826261-G-GT p.Phe11fs frameshift ADAMTSL1 127 80508 0.00157748 40254 2 0.00978613
9-18826261-G-GTTT p.Phe10dup disruptive_inframe_insertion ADAMTSL1 1 81264 1.23056E-5 40632 0 NA
9-18826261-GTTT-G p.Phe10del disruptive_inframe_deletion ADAMTSL1 1 81266 1.23053E-5 40633 0 3.17339E-5
9-18826261-G-GTT p.Phe11fs frameshift ADAMTSL1 2 81266 2.46105E-5 40633 0 1.54416E-4
9-18826261-GT-TG p.Cys6Leu missense ADAMTSL1 2 81266 2.46105E-5 40633 0 NA
9-18826262-T-G p.Cys6Trp missense ADAMTSL1 11 60960 1.80446E-4 30480 0 0.118557
9-18826264-T-C p.Phe7Ser missense ADAMTSL1 1 81344 1.22935E-5 40672 0 3.42818E-5
9-18826264-T-G p.Phe7Cys missense ADAMTSL1 1 81344 1.22935E-5 40672 0 NA
9-18826268-T-G p.Phe8Leu missense ADAMTSL1 4 81308 4.91957E-5 40654 0 1.38052E-5
9-18826273-T-C p.Phe10Ser missense ADAMTSL1 1 81270 1.23047E-5 40635 0 4.50086E-5
9-18826311-A-G p.Arg23Gly missense ADAMTSL1 16 81764