Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-136399504-C-T c.-359C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 5 5708 8.75964E-4 2854 0 3.50542E-4
9-136399632-C-T c.-231C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 31 19388 0.00159893 9694 0 0.00360424
9-136399646-C-T c.-217C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 4 21760 1.83824E-4 10880 0 1.91302E-4
9-136399687-C-T c.-176C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 1 28870 3.4638E-5 14435 0 NA
9-136399764-G-A c.-99G>A 5_prime_UTR_premature_start_codon_gain ADAMTSL2 1 36266 2.7574E-5 18133 0 NA
9-136399778-C-G c.-85C>G 5_prime_UTR_premature_start_codon_gain ADAMTSL2 1 37628 2.6576E-5 18814 0 NA
9-136399781-C-T c.-82C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 1 37744 2.64943E-5 18872 0 NA
9-136399863-A-T p.Met1? initiator_codon ADAMTSL2 1 45112 2.21671E-5 22556 0 NA
9-136399880-A-AGAGGGAGGCGGCGCGGGG p.Gly8_Glu13dup disruptive_inframe_insertion ADAMTSL2 1 45080 2.21828E-5 22540 0 NA
9-136399894-C-CG p.Glu13fs frameshift ADAMTSL2 3 43788 6.85119E-5 21894 0 3.9557E-4
9-136399895-G-A p.Ala11Ala synonymous ADAMTSL2 58 44604 0.00130033 22302 1 0.00239051
9-136399896-G-C p.Gly12Arg missense ADAMTSL2 2 44770 4.46728E-5 22385 0 NA
9-136399905-G-A p.Gly15Arg missense ADAMTSL2 3 44616 6.72404E-5 22308 0 1.27453E-4
9-136399913-G-A p.Gly17Gly synonymous ADAMTSL2 1 44620 2.24115E-5 22310 0 NA
9-136399917-G-A p.Gly19Arg missense ADAMTSL2 3 44548 6.73431E-5 22274 0 3.18796E-5
9-136399923-C-T p.Pro21Ser missense ADAMTSL2 10 44258 2.25948E-4 22129 0 2.22519E-4
9-136399925-G-C p.Pro21Pro synonymous ADAMTSL2 8 44408 1.80148E-4 22204 0 3.44439E-4
9-136399925-G-A p.Pro21Pro synonymous ADAMTSL2 5 44408 1.12592E-4 22204 0 6.38842E-4
9-136399927-G-A p.Gly22Asp missense ADAMTSL2 1 44522 2.24608E-5 22261 0 6.37592E-5
9-136399929-C-T p.Arg23Cys missense ADAMTSL2 4 44528 8.98311E-5 22264 0 NA
9-136399930-G-A p.Arg23His missense ADAMTSL2 1 44520 2.24618E-5 22260 0 5.18694E-5
9-136399935-C-A p.Leu25Ile missense ADAMTSL2 1 44984 2.22301E-5 22492 0 NA
9-136399946-C-T p.His28His synonymous ADAMTSL2 1 44740 2.23514E-5 22370 0 NA
9-136399955-C-T p.Pro31Pro synonymous ADAMTSL2 1 44938 2.22529E-5 22469 0 NA
9-136399956-G-A p.Ala32Thr missense ADAMTSL2 3 44908 6.68032E-5 22454 0 7.79302E-5
9-136399959-C-T p.Arg33Cys missense ADAMTSL2 2 45008 4.44365E-5 22504 0 6.95894E-4
9-136399968-C-T p.His36Tyr missense ADAMTSL2 1 45290 2.20799E-5 22645 0 9.69199E-6
9-136399975-C-A p.Ala38Glu missense ADAMTSL2 4 45292 8.83158E-5 22646 0 9.95679E-6
9-136399976-G-GC p.Ser40fs frameshift ADAMTSL2 58 45250 0.00128177 22625 2 0.0252635
9-136399978-C-T p.Pro39Leu missense ADAMTSL2 2 45320 4.41306E-5 22660 0 1.00573E-5
9-136399978-C-G p.Pro39Arg missense ADAMTSL2 2 45320 4.41306E-5 22660 0 NA
9-136399979-G-C p.Pro39Pro synonymous ADAMTSL2 22 45494 4.8358E-4 22747 0 0.00153012
9-136399993-G-A p.Ser44Asn missense ADAMTSL2 1 45842 2.18141E-5 22921 0 NA
9-136399994-C-T p.Ser44Ser synonymous ADAMTSL2 14 45726 3.06172E-4 22863 0 6.37349E-4
9-136399996-C-T p.Ala45Val missense ADAMTSL2 5 45850 1.09051E-4 22925 0 3.18552E-5
9-136399998-C-T p.Arg46Cys missense ADAMTSL2 1 45822 2.18236E-5 22911 0 6.3743E-5
9-136400002-C-T p.Pro47Leu missense ADAMTSL2 1 45770 2.18484E-5 22885 0 3.18715E-5
9-136400025-C-G p.Leu55Val missense ADAMTSL2 3 45088 6.65366E-5 22544 0 2.03583E-5
9-136400026-T-C p.Leu55Pro missense ADAMTSL2 2 45028 4.44168E-5 22514 0 NA
9-136400037-C-T p.Gln59* stop_gained ADAMTSL2 2 44552 4.48914E-5 22276 0 2.7168E-5
9-136400043-G-A c.-151+4G>A splice_region ADAMTSL2 1 44254 2.25968E-5 22127 0 3.18918E-5
9-136401678-C-T c.-150-7C>T splice_region ADAMTSL2 1 81040 1.23396E-5 40520 0 NA
9-136401683-A-G c.-150-2A>G splice_acceptor ADAMTSL2 1 81116 1.2328E-5 40558 0 NA
9-136401688-C-G p.Leu61Val missense ADAMTSL2 5 81146 6.16173E-5 40573 0 6.25E-4
9-136401696-C-T p.Asp63Asp synonymous ADAMTSL2 1 81278 1.23035E-5 40639 0 2.75149E-5
9-136401702-C-T c.-133C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 1 81444 1.22784E-5 40722 0 2.37914E-5
9-136401725-T-C p.Leu73Pro missense ADAMTSL2 1 82048 1.2188E-5 41024 0 NA
9-136401725-T-G p.Leu73Arg missense ADAMTSL2 1 82048 1.2188E-5 41024 0 4.0838E-6
9-136401730-G-A p.Ala75Thr missense ADAMTSL2 2 82146 2.43469E-5 41073 0 2.22E-5
9-136401736-G-A p.Ala77Thr missense ADAMTSL2 1 82324 1.21471E-5 41162 0 NA
9-136401743-C-G p.Ala79Gly missense ADAMTSL2 1 82470 1.21256E-5 41235 0 4.01597E-6
9-136401751-C-T p.Arg82* stop_gained ADAMTSL2 1 82560 1.21124E-5 41280 0 1.20036E-5
9-136401752-G-A p.Arg82Gln missense ADAMTSL2 3 82530 3.63504E-5 41265 0 3.18451E-5
9-136401757-C-T p.Leu84Phe missense ADAMTSL2 2 82696 2.4185E-5 41348 0 3.1839E-5
9-136401768-G-A p.Lys87Lys synonymous ADAMTSL2 4 82884 4.82602E-5 41442 0 7.97416E-6
9-136401769-C-A p.Arg88Ser missense ADAMTSL2 1 82872 1.20668E-5 41436 0 NA
9-136401773-C-T p.Thr89Ile missense ADAMTSL2 2 82948 2.41115E-5 41474 1 NA
9-136401775-C-T c.-60C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 1 82964 1.20534E-5 41482 0 3.98467E-6
9-136401795-C-T c.-40C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 1 83068 1.20383E-5 41534 0 3.18512E-5
9-136401805-C-T c.-30C>T 5_prime_UTR_premature_start_codon_gain ADAMTSL2 2 83128 2.40593E-5 41564 0 1.59186E-5
9-136401827-T-C p.Leu107Pro missense ADAMTSL2 77 83204 9.25436E-4 41602 1 0.00277052
9-136401832-A-G p.Arg109Gly missense ADAMTSL2 1 83198 1.20195E-5 41599 0 1.19337E-5
9-136401836-T-C p.Met1? start_lost ADAMTSL2 1 83210 1.20178E-5 41605 0 NA
9-136401845-G-C p.Arg4Thr missense ADAMTSL2 2 83218 2.40333E-5 41609 0 7.95463E-5
9-136401845-G-A p.Arg4Lys missense ADAMTSL2 1 83218 1.20166E-5 41609 0 3.18492E-5
9-136401852-A-G p.Gln6Gln synonymous ADAMTSL2 1 83210 1.20178E-5 41605 0 6.37267E-5
9-136401858-C-T p.Ser8Ser synonymous ADAMTSL2 2 83186 2.40425E-5 41593 0 1.19329E-5
9-136401860-G-T p.Cys9Phe missense ADAMTSL2 3 83180 3.60664E-5 41590 0 2.47631E-5
9-136401892-G-A p.Val20Ile missense ADAMTSL2 238 83108 0.00286374 41554 2 0.0040282
9-136401898-G-A p.Gly22Arg missense ADAMTSL2 1 83064 1.20389E-5 41532 0 7.96299E-6
9-136401907-G-T p.Val25Leu missense ADAMTSL2 2 83042 2.40842E-5 41521 0 8.25873E-6
9-136401915-C-T p.Thr27Thr synonymous ADAMTSL2 1 82942 1.20566E-5 41471 0 5.78293E-5
9-136401918-G-C p.Gly28Gly synonymous ADAMTSL2 6 82906 7.23711E-5 41453 0 0.001875
9-136401922-A-G p.Thr30Ala missense+splice_region ADAMTSL2 400 82858 0.00482754 41429 9 0.0120716
9-136401923-C-T p.Thr30Met missense+splice_region ADAMTSL2 1 82856 1.20691E-5 41428 0 3.59241E-5
9-136401927-G-A c.90+3G>A splice_region ADAMTSL2 1 82834 1.20723E-5 41417 0 NA
9-136402522-C-T c.91-5C>T splice_region ADAMTSL2 3 74512 4.0262E-5 37256 0 9.41212E-6
9-136402537-C-A p.Pro34Gln missense ADAMTSL2 1 74818 1.33658E-5 37409 0 9.40256E-6
9-136402541-A-G p.Thr35Thr synonymous ADAMTSL2 86 74866 0.00114872 37433 1 0.0023281
9-136402543-C-T p.Ser36Phe missense ADAMTSL2 1 74892 1.33526E-5 37446 0 NA
9-136402549-G-C p.Ser38Thr missense ADAMTSL2 1 75020 1.33298E-5 37510 0 NA
9-136402558-G-C p.Gly41Ala missense ADAMTSL2 13 75086 1.73135E-4 37543 0 7.30365E-5
9-136402561-G-C p.Gly42Ala missense ADAMTSL2 5 74902 6.67539E-5 37451 0 2.72567E-4
9-136402568-C-T p.Asp44Asp synonymous ADAMTSL2 4 75120 5.32481E-5 37560 0 1.91156E-4
9-136402569-G-A p.Ala45Thr missense ADAMTSL2 6 75124 7.9868E-5 37562 0 4.69625E-5
9-136402573-C-T p.Thr46Met missense ADAMTSL2 2 75144 2.66156E-5 37572 0 3.75862E-5
9-136402574-G-A p.Thr46Thr synonymous ADAMTSL2 7 75092 9.3219E-5 37546 0 4.06207E-5
9-136402576-C-T p.Ala47Val missense ADAMTSL2 1 75036 1.33269E-5 37518 0 NA
9-136402606-C-T p.Thr57Met missense ADAMTSL2 2 74312 2.69136E-5 37156 0 NA
9-136402607-G-A p.Thr57Thr synonymous ADAMTSL2 1 74386 1.34434E-5 37193 0 1.87631E-5
9-136402610-G-A p.Ala58Ala synonymous ADAMTSL2 6 74386 8.06603E-5 37193 0 8.09664E-6
9-136402618-G-A p.Arg61His missense ADAMTSL2 1 73718 1.35652E-5 36859 0 NA
9-136402621-G-A p.Ser62Asn missense ADAMTSL2 1 73782 1.35534E-5 36891 0 NA
9-136402625-C-T p.Cys63Cys synonymous ADAMTSL2 1 73330 1.3637E-5 36665 0 6.37999E-5
9-136402634-G-A p.Gly66Gly synonymous ADAMTSL2 7 73590 9.51216E-5 36795 0 3.18674E-4
9-136402673-C-T c.233+4C>T splice_region ADAMTSL2 2 73554 2.71909E-5 36777 0 9.53834E-6
9-136403479-C-T p.Ser81Phe missense ADAMTSL2 2 82798 2.41552E-5 41399 0 2.99546E-4
9-136403481-G-A p.Val82Ile missense ADAMTSL2 3 82792 3.62354E-5 41396 0 6.36862E-5
9-136403481-G-T p.Val82Phe missense ADAMTSL2 1 82792 1.20785E-5 41396 0 NA
9-136403483-C-T p.Val82Val synonymous ADAMTSL2 3 82818 3.6224E-5 41409 0 3.98511E-6
9-136403485-C-T p.Pro83Leu missense ADAMTSL2 7 82794 8.45472E-5 41397 0 6.25E-4
9-136403486-G-A p.Pro83Pro synonymous ADAMTSL2 11 82802 1.32847E-4 41401 0 3.98476E-5
9-136403488-G-A p.Gly84Asp missense ADAMTSL2 1 82788 1.2079E-5 41394 0 5.03525E-4
9-136403491-C-G p.Pro85Arg missense ADAMTSL2 2 82818 2.41493E-5 41409 0 NA
9-136403492-C-T p.Pro85Pro synonymous ADAMTSL2 2 82820 2.41488E-5 41410 0 7.1736E-5
9-136403493-G-A p.Gly86Arg missense ADAMTSL2 9 82824 1.08664E-4 41412 0 6.66633E-5
9-136403495-G-C p.Gly86Gly synonymous ADAMTSL2 8 82814 9.6602E-5 41407 0 0.00125
9-136403509-C-T p.Thr91Met missense ADAMTSL2 10 82752 1.20843E-4 41376 0 1.27397E-4
9-136403510-G-A p.Thr91Thr synonymous ADAMTSL2 2 82744 2.41709E-5 41372 0 1.25246E-4
9-136403510-G-C p.Thr91Thr synonymous ADAMTSL2 4 82744 4.83419E-5 41372 0 NA
9-136403515-C-T p.Thr93Met missense ADAMTSL2 1 82724 1.20884E-5 41362 0 7.97677E-6
9-136403516-G-A p.Thr93Thr synonymous ADAMTSL2 63 82706 7.61734E-4 41353 0 0.00156041
9-136403524-G-A p.Arg96Gln missense ADAMTSL2 2 82638 2.42019E-5 41319 0 2.51046E-5
9-136403534-C-G p.Leu99Leu synonymous ADAMTSL2 1 82524 1.21177E-5 41262 0 NA
9-136403545-A-G p.Gln103Arg missense+splice_region ADAMTSL2 1 82354 1.21427E-5 41177 0 NA
9-136403553-C-T c.309+7C>T splice_region ADAMTSL2 1 82132 1.21755E-5 41066 0 8.02955E-6
9-136404895-G-A p.Glu104Glu splice_region+synonymous ADAMTSL2 12 80986 1.48174E-4 40493 0 2.25089E-4
9-136404901-G-A p.Pro106Pro synonymous ADAMTSL2 17 81004 2.09866E-4 40502 0 6.87997E-4
9-136404903-C-T p.Pro107Leu missense ADAMTSL2 1 81034 1.23405E-5 40517 0 4.97859E-5
9-136404904-G-A p.Pro107Pro synonymous ADAMTSL2 7 81062 8.63537E-5 40531 0 6.25E-4
9-136404906-A-G p.Asp108Gly missense ADAMTSL2 1 81036 1.23402E-5 40518 0 6.25E-4
9-136404907-C-T p.Asp108Asp synonymous ADAMTSL2 28 81076 3.45355E-4 40538 0 6.9735E-4
9-136404908-G-A p.Gly109Arg missense ADAMTSL2 6 81098 7.39846E-5 40549 0 9.91572E-5
9-136404912-GG-AC p.Arg110Asn missense ADAMTSL2 1 81108 1.23292E-5 40554 0 NA
9-136404923-G-A p.Glu114Lys missense ADAMTSL2 1 81130 1.23259E-5 40565 0 3.18654E-5
9-136404925-G-A p.Glu114Glu synonymous ADAMTSL2 1 81158 1.23216E-5 40579 0 1.28195E-5
9-136404934-C-T p.Cys117Cys synonymous ADAMTSL2 11 81164 1.35528E-4 40582 0 1.15365E-4
9-136404935-G-A p.Val118Ile missense ADAMTSL2 1 81162 1.2321E-5 40581 0 6.66667E-4
9-136404936-T-C p.Val118Ala missense ADAMTSL2 7 81180 8.62281E-5 40590 0 4.90966E-5
9-136404952-C-T p.His123His synonymous ADAMTSL2 5 81204 6.15733E-5 40602 0 6.25E-4
9-136404953-G-A p.Val124Met missense ADAMTSL2 16 81216 1.97006E-4 40608 0 5.12551E-5
9-136404961-C-T p.Asn126Asn synonymous ADAMTSL2 4 81186 4.92696E-5 40593 0 9.55536E-5
9-136404964-G-A p.Gly127Gly synonymous ADAMTSL2 1 81140 1.23244E-5 40570 0 6.40828E-6
9-136404965-C-T p.Arg128Trp missense ADAMTSL2 4 81120 4.93097E-5 40560 0 4.91594E-5
9-136404966-G-A p.Arg128Gln missense ADAMTSL2 4 81112 4.93145E-5 40556 0 9.84058E-5
9-136404969-C-A p.Thr129Lys missense ADAMTSL2 2 81096 2.46621E-5 40548 0 NA
9-136404970-G-A p.Thr129Thr synonymous ADAMTSL2 78 81060 9.6225E-4 40530 1 0.00260078
9-136404970-G-T p.Thr129Thr synonymous ADAMTSL2 1 81062 1.23362E-5 40531 0 3.18512E-5
9-136404971-C-T p.His130Tyr missense ADAMTSL2 3 81078 3.70014E-5 40539 0 3.84704E-5
9-136404987-T-C p.Leu135Pro missense ADAMTSL2 1 81036 1.23402E-5 40518 0 NA
9-136404991-C-T p.Tyr136Tyr synonymous ADAMTSL2 1 80964 1.23512E-5 40482 0 NA
9-136404993-C-T p.Pro137Leu missense+splice_region ADAMTSL2 1 80938 1.23551E-5 40469 0 1.9276E-5
9-136404994-G-A p.Pro137Pro splice_region+synonymous ADAMTSL2 2 80928 2.47133E-5 40464 0 6.25E-4
9-136404995-G-A p.Asp138Asn missense+splice_region ADAMTSL2 1 80900 1.23609E-5 40450 0 NA
9-136404999-C-T c.412+4C>T splice_region ADAMTSL2 1 80870 1.23655E-5 40435 0 4.97562E-5
9-136405003-C-A c.412+8C>A splice_region ADAMTSL2 1 80816 1.23738E-5 40408 0 NA
9-136405717-C-T c.413-3C>T splice_region ADAMTSL2 1 82382 1.21386E-5 41191 0 6.36821E-5
9-136405721-T-C p.Asp138Asp splice_region+synonymous ADAMTSL2 1 82474 1.2125E-5 41237 0 NA
9-136405723-A-T p.Asp139Val missense ADAMTSL2 2 82538 2.42313E-5 41269 0 8.59904E-6
9-136405726-AT-A p.Tyr140fs frameshift ADAMTSL2 1 82610 1.21051E-5 41305 0 NA
9-136405737-T-A p.Ser144Thr missense ADAMTSL2 1 82794 1.20782E-5 41397 0 NA
9-136405747-C-T p.Pro147Leu missense ADAMTSL2 2 82890 2.41284E-5 41445 0 8.41085E-6
9-136405748-G-A p.Pro147Pro synonymous ADAMTSL2 8 82898 9.65041E-5 41449 0 0.00100705
9-136405754-C-A p.Asp149Glu missense ADAMTSL2 1 82952 1.20552E-5 41476 0 NA
9-136405763-T-C p.Cys152Cys synonymous ADAMTSL2 6 82986 7.23014E-5 41493 0 6.37146E-5
9-136405770-G-A p.Val155Met missense ADAMTSL2 15 83008 1.80705E-4 41504 0 0.0020141
9-136405775-C-T p.Asp156Asp synonymous ADAMTSL2 1 83030 1.20438E-5 41515 0 9.55536E-5
9-136405776-G-A p.Gly157Ser missense ADAMTSL2 3 83038 3.6128E-5 41519 0 4.16743E-5
9-136405780-A-G p.Gln158Arg missense ADAMTSL2 1 83074 1.20375E-5 41537 0 NA
9-136405783-G-A p.Arg159Gln missense ADAMTSL2 4 83082 4.81452E-5 41541 0 4.16278E-5
9-136405784-G-A p.Arg159Arg synonymous ADAMTSL2 1 83078 1.20369E-5 41539 0 NA
9-136405787-G-A p.Gln160Gln synonymous ADAMTSL2 1 83084 1.2036E-5 41542 0 NA
9-136405796-C-T p.Val163Val synonymous ADAMTSL2 1 83104 1.20331E-5 41552 0 3.18471E-5
9-136405799-C-T p.Pro164Pro synonymous ADAMTSL2 3 83104 3.60993E-5 41552 0 3.98603E-5
9-136405800-G-A p.Ala165Thr missense ADAMTSL2 4 83098 4.81359E-5 41549 1 9.55597E-5
9-136405804-G-A p.Arg166His missense ADAMTSL2 5 83122 6.01525E-5 41561 0 4.15117E-5
9-136405805-C-T p.Arg166Arg synonymous ADAMTSL2 10 83146 1.2027E-4 41573 0 6.36983E-5
9-136405808-C-T p.Asp167Asp synonymous ADAMTSL2 2 83166 2.40483E-5 41583 0 3.18492E-5
9-136405809-G-A p.Gly168Ser missense ADAMTSL2 1 83158 1.20253E-5 41579 0 8.29531E-6
9-136405814-A-G p.Thr169Thr synonymous ADAMTSL2 2 83180 2.40442E-5 41590 0 1.27437E-4
9-136405815-T-A p.Ser170Thr missense ADAMTSL2 1 83196 1.20198E-5 41598 0 NA
9-136405829-T-C p.Thr174Thr synonymous ADAMTSL2 4 83206 4.80735E-5 41603 0 6.36862E-5
9-136405836-C-T p.Arg177* stop_gained ADAMTSL2 1 83198 1.20195E-5 41599 0 3.98524E-6
9-136405837-G-A p.Arg177Gln missense ADAMTSL2 1 83198 1.20195E-5 41599 0 4.13894E-5
9-136405842-G-C p.Val179Leu missense ADAMTSL2 1 83200 1.20192E-5 41600 0 NA
9-136405847-C-T p.Cys180Cys synonymous ADAMTSL2 4 83174 4.8092E-5 41587 0 3.18951E-5
9-136405848-G-A p.Val181Met missense ADAMTSL2 4 83172 4.80931E-5 41586 0 3.31038E-5
9-136406006-G-A p.Gly189Ser missense ADAMTSL2 1 82672 1.2096E-5 41336 0 3.18674E-5
9-136406014-C-T p.Asp191Asp synonymous ADAMTSL2 4 82704 4.83653E-5 41352 0 5.04541E-4
9-136406015-G-A p.Gly192Arg missense ADAMTSL2 1 82694 1.20928E-5 41347 0 1.67549E-5
9-136406018-G-C p.Val193Leu missense ADAMTSL2 1 82740 1.20861E-5 41370 0 NA
9-136406020-G-A p.Val193Val synonymous ADAMTSL2 6 82718 7.25356E-5 41359 0 3.39311E-4
9-136406030-A-G p.Thr197Ala missense ADAMTSL2 1 82752 1.20843E-5 41376 0 NA
9-136406035-C-T p.His198His synonymous ADAMTSL2 2 82820 2.41488E-5 41410 0 NA
9-136406068-C-T p.Asp209Asp synonymous ADAMTSL2 11 82854 1.32764E-4 41427 0 2.86789E-4
9-136406069-G-A p.Gly210Ser missense ADAMTSL2 2 82854 2.41388E-5 41427 0 5.87732E-5
9-136406086-C-T p.His215His synonymous ADAMTSL2 12 82836 1.44865E-4 41418 0 7.60649E-5
9-136406091-C-T p.Thr217Met missense ADAMTSL2 10 82814 1.20753E-4 41407 0 1.59226E-4
9-136406092-G-A p.Thr217Thr synonymous ADAMTSL2 7 82814 8.45268E-5 41407 0 1.78292E-4
9-136406103-G-A p.Arg221His missense ADAMTSL2 3 82724 3.62652E-5 41362 0 3.9968E-6
9-136406108-G-T p.Gly223Trp missense ADAMTSL2 1 82668 1.20966E-5 41334 0 NA
9-136406112-A-T p.Asn224Ile missense ADAMTSL2 1 82594 1.21074E-5 41297 0 NA
9-136406113-T-C p.Asn224Asn synonymous ADAMTSL2 1 82582 1.21092E-5 41291 0 NA
9-136409590-A-G c.683-2A>G splice_acceptor ADAMTSL2 1 83034 1.20433E-5 41517 0 NA
9-136409599-T-C p.Ser230Ser synonymous ADAMTSL2 47 83068 5.65802E-4 41534 0 0.00117842
9-136409605-G-A p.Val232Val synonymous ADAMTSL2 1 83088 1.20354E-5 41544 0 3.97697E-6
9-136409607-C-T p.Thr233Ile missense ADAMTSL2 1 83090 1.20351E-5 41545 0 NA
9-136409616-C-T p.Pro236Leu missense ADAMTSL2 1 83110 1.20322E-5 41555 0 8.239E-6
9-136409617-G-A p.Pro236Pro synonymous ADAMTSL2 2 83108 2.40651E-5 41554 0 3.18492E-5
9-136409627-C-A p.Arg240Arg synonymous ADAMTSL2 1 83098 1.2034E-5 41549 0 NA
9-136409629-A-G p.Arg240Arg synonymous ADAMTSL2 12 83088 1.44425E-4 41544 0 3.18431E-4
9-136409642-G-A p.Val245Ile missense ADAMTSL2 2 83106 2.40657E-5 41553 0 5.76834E-5
9-136409658-C-T p.Ser250Phe missense ADAMTSL2 1 83050 1.20409E-5 41525 0 NA
9-136409659-C-T p.Ser250Ser synonymous ADAMTSL2 1 83052 1.20406E-5 41526 0 6.25E-4
9-136409659-C-A p.Ser250Ser synonymous ADAMTSL2 1 83052 1.20406E-5 41526 0 3.97769E-6
9-136409660-G-A p.Ala251Thr missense ADAMTSL2 1 83040 1.20424E-5 41520 0 1.59113E-5
9-136409665-C-T p.Asp252Asp synonymous ADAMTSL2 9 83020 1.08408E-4 41510 0 6.36902E-5
9-136409666-G-A p.Val253Met missense ADAMTSL2 1 83022 1.2045E-5 41511 0 3.18431E-5
9-136409679-A-G c.763+7A>G splice_region ADAMTSL2 3 82866 3.6203E-5 41433 0 4.12344E-5
9-136409680-C-T c.763+8C>T splice_region ADAMTSL2 3 82852 3.62091E-5 41426 0 4.37717E-5
9-136412170-C-T p.Asp258Asp synonymous ADAMTSL2 71339 82712 0.862499 41356 31162 0.853748
9-136412173-A-G p.Glu259Glu synonymous ADAMTSL2 1 83214 1.20172E-5 41607 0 NA
9-136412184-A-T p.Tyr263Phe missense ADAMTSL2 2 83282 2.40148E-5 41641 0 8.23981E-6
9-136412194-C-T p.Asn266Asn synonymous ADAMTSL2 18 83306 2.16071E-4 41653 0 8.3509E-5
9-136412213-A-G p.Ser273Gly missense ADAMTSL2 1 83334 1.19999E-5 41667 0 NA
9-136412233-C-T p.Ile279Ile synonymous ADAMTSL2 3 83324 3.6004E-5 41662 0 4.11929E-5
9-136412236-A-T p.Ala280Ala synonymous ADAMTSL2 71555 82930 0.862836 41465 31256 0.853607
9-136412242-G-A p.Thr282Thr synonymous ADAMTSL2 4 83322 4.80065E-5 41661 0 6.36943E-5
9-136412255-A-C p.Arg287Arg synonymous ADAMTSL2 71282 82658 0.862373 41329 31125 0.853603
9-136412255-A-T p.Arg287Trp missense ADAMTSL2 1 83310 1.20034E-5 41655 0 8.24103E-6
9-136412258-C-T p.Arg288Trp missense ADAMTSL2 1 83300 1.20048E-5 41650 0 1.6487E-5
9-136412264-A-G p.Met290Val missense ADAMTSL2 1 83298 1.20051E-5 41649 0 NA
9-136412279-A-G p.Thr295Ala missense ADAMTSL2 2 83258 2.40217E-5 41629 0 NA
9-136412281-C-T p.Thr295Thr synonymous ADAMTSL2 5 83252 6.00586E-5 41626 0 5.03525E-4
9-136412285-A-G p.Ile297Val missense ADAMTSL2 5 83236 6.00702E-5 41618 0 1.65E-5
9-136412287-C-T p.Ile297Ile synonymous ADAMTSL2 3 83218 3.60499E-5 41609 0 1.65014E-5
9-136412296-C-T p.Ile300Ile synonymous ADAMTSL2 9631 82762 0.11637 41381 551 0.164581
9-136412308-G-A p.Gly304Gly synonymous ADAMTSL2 1 82884 1.20651E-5 41442 0 6.37186E-5
9-136412324-C-T p.Leu310Leu synonymous ADAMTSL2 2 82656 2.41967E-5 41328 0 8.26897E-6
9-136412324-C-G p.Leu310Val missense ADAMTSL2 1 82656 1.20983E-5 41328 0 NA
9-136412326-G-A p.Leu310Leu synonymous ADAMTSL2 1 82610 1.21051E-5 41305 0 NA