Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-42836451-C-T c.-117C>T 5_prime_UTR_premature_start_codon_gain ADAM11 2 13232 1.51149E-4 6616 0 2.68714E-4
17-42836583-C-A p.Arg6Ser missense ADAM11 2 37984 5.26537E-5 18992 0 0.00146843
17-42836588-G-C p.Trp7Cys missense ADAM11 2 38240 5.23013E-5 19120 0 6.50915E-5
17-42836619-C-T p.Pro18Ser missense ADAM11 2 38780 5.1573E-5 19390 0 NA
17-42836628-G-A p.Gly21Ser missense+splice_region ADAM11 1 38308 2.61042E-5 19154 0 NA
17-42837085-C-T c.62-5C>T splice_region ADAM11 1 73204 1.36605E-5 36602 0 8.40153E-6
17-42837087-C-G c.62-3C>G splice_region ADAM11 4 73240 5.4615E-5 36620 0 NA
17-42837088-A-G c.62-2A>G splice_acceptor ADAM11 2 73240 2.73075E-5 36620 0 NA
17-42837100-C-T p.Thr24Thr synonymous ADAM11 1 73544 1.35973E-5 36772 0 1.87455E-5
17-42837103-A-G p.Gln25Gln synonymous ADAM11 153 73670 0.00207683 36835 0 0.009375
17-42837113-G-A p.Gly29Arg missense ADAM11 7 73878 9.47508E-5 36939 0 0.0015121
17-42837115-A-T p.Gly29Gly synonymous ADAM11 2 73888 2.7068E-5 36944 0 NA
17-42837125-T-TG p.Pro37fs frameshift ADAM11 2 74056 2.70066E-5 37028 0 8.42665E-5
17-42837127-G-C p.Trp33Cys missense ADAM11 2 74152 2.69716E-5 37076 0 NA
17-42837128-G-C p.Gly34Arg missense ADAM11 3 74132 4.04684E-5 37066 0 2.80395E-5
17-42837131-G-T p.Gly35Cys missense ADAM11 6 74234 8.08255E-5 37117 0 1.12116E-4
17-42837131-G-A p.Gly35Ser missense ADAM11 1 74234 1.34709E-5 37117 0 3.18573E-5
17-42837131-G-C p.Gly35Arg missense ADAM11 1 74234 1.34709E-5 37117 0 3.18573E-5
17-42837132-G-A p.Gly35Asp missense ADAM11 1 74216 1.34742E-5 37108 0 NA
17-42837133-C-T p.Gly35Gly synonymous ADAM11 166 74240 0.00223599 37120 0 0.00605404
17-42837139-C-T p.Pro37Pro synonymous ADAM11 1 74372 1.34459E-5 37186 0 NA
17-42837139-C-G p.Pro37Pro synonymous ADAM11 1 74372 1.34459E-5 37186 0 NA
17-42837140-C-A p.Gln38Lys missense ADAM11 1 74364 1.34474E-5 37182 0 2.48468E-5
17-42837151-C-T p.Gly41Gly synonymous ADAM11 1 74414 1.34383E-5 37207 0 NA
17-42837187-G-C p.Leu53Leu synonymous ADAM11 1 74198 1.34775E-5 37099 0 6.29723E-4
17-42837193-G-A p.Arg55Arg synonymous ADAM11 81 74080 0.00109341 37040 1 0.00101112
17-42837205-G-A p.Gly59Gly synonymous ADAM11 11 73512 1.49635E-4 36756 0 7.6477E-4
17-42837207-G-A p.Gly60Glu missense ADAM11 1 73458 1.36132E-5 36729 0 NA
17-42837216-G-C p.Arg63Pro missense ADAM11 1 73066 1.36863E-5 36533 0 3.18593E-5
17-42837216-G-T p.Arg63Leu missense ADAM11 2 73066 2.73725E-5 36533 0 NA
17-42837224-C-A p.Gln66Lys missense ADAM11 1 72828 1.3731E-5 36414 0 3.49471E-5
17-42837238-G-A p.Arg70Arg synonymous ADAM11 1 72370 1.38179E-5 36185 0 7.23987E-5
17-42837243-G-A p.Arg72His missense ADAM11 3 72070 4.16262E-5 36035 0 NA
17-42837244-C-T p.Arg72Arg synonymous ADAM11 2 72028 2.7767E-5 36014 0 NA
17-42837258-G-A p.Gly77Glu missense ADAM11 1 71772 1.3933E-5 35886 0 2.14023E-5
17-42837262-C-T p.Gly78Gly synonymous ADAM11 4 71542 5.59112E-5 35771 0 NA
17-42847079-C-G c.238-7C>G splice_region ADAM11 1 80976 1.23493E-5 40488 0 NA
17-42847080-A-G c.238-6A>G splice_region ADAM11 1 80768 1.23811E-5 40384 0 NA
17-42847083-C-T c.238-3C>T splice_region ADAM11 1 81290 1.23016E-5 40645 0 NA
17-42847102-A-G p.Gln85Arg missense ADAM11 2 82270 2.43102E-5 41135 0 2.47922E-5
17-42847112-C-T c.-333C>T 5_prime_UTR_premature_start_codon_gain ADAM11 1 82466 1.21262E-5 41233 0 5.03525E-4
17-42847113-G-A p.Val89Ile missense ADAM11 7 82498 8.48505E-5 41249 0 1.91375E-4
17-42847119-C-A p.Pro91Thr missense ADAM11 1 82660 1.20978E-5 41330 0 8.25491E-6
17-42847130-C-T p.Asn94Asn synonymous ADAM11 1 82768 1.2082E-5 41384 0 3.98067E-6
17-42847152-G-A p.Glu102Lys missense ADAM11 1 82794 1.20782E-5 41397 0 7.96007E-6
17-42847165-G-A c.314+3G>A splice_region ADAM11 1 82780 1.20802E-5 41390 0 3.98045E-6
17-42847365-G-A p.Ser110Ser synonymous ADAM11 7 81180 8.62281E-5 40590 0 3.18532E-5
17-42847371-C-T c.-261C>T 5_prime_UTR_premature_start_codon_gain ADAM11 2 81146 2.46469E-5 40573 0 5.03525E-4
17-42847372-G-A p.Val113Met missense ADAM11 4 81132 4.93024E-5 40566 0 2.49572E-5
17-42847388-G-C p.Ser118Thr missense ADAM11 26 80752 3.21973E-4 40376 0 8.28289E-4
17-42847390-C-T p.Arg119Trp missense ADAM11 1 80658 1.2398E-5 40329 0 8.33028E-6
17-42847393-G-A p.Glu120Lys missense ADAM11 2 80588 2.48176E-5 40294 0 3.18492E-5
17-42847395-G-A p.Glu120Glu synonymous ADAM11 363 80470 0.004511 40235 2 0.00474182
17-42847396-G-A p.Gly121Arg missense ADAM11 12 80452 1.49157E-4 40226 0 0.006875
17-42847407-G-A p.Gln124Gln synonymous ADAM11 1 79804 1.25307E-5 39902 0 NA
17-42847414-A-T p.Thr127Ser missense+splice_region ADAM11 1 79166 1.26317E-5 39583 0 NA
17-42847416-C-T c.-216C>T 5_prime_UTR_premature_start_codon_gain ADAM11 7 78820 8.88099E-5 39410 0 7.53643E-5
17-42847417-G-A c.381+1G>A splice_donor ADAM11 2 78748 2.53975E-5 39374 0 8.37619E-6
17-42848955-G-T p.Ala129Ser missense ADAM11 2 82926 2.41179E-5 41463 0 4.03005E-6
17-42848956-C-T p.Ala129Val missense ADAM11 2 82928 2.41173E-5 41464 0 3.18634E-5
17-42848961-G-A p.Asp131Asn missense ADAM11 1 83006 1.20473E-5 41503 0 8.42957E-6
17-42848972-C-T p.Tyr134Tyr synonymous ADAM11 2 83056 2.40801E-5 41528 0 NA
17-42848981-G-T p.Gly137Gly synonymous ADAM11 1 83078 1.20369E-5 41539 0 NA
17-42848998-C-T p.Pro143Leu missense ADAM11 4 83032 4.81742E-5 41516 0 2.01691E-5
17-42848999-G-T p.Pro143Pro synonymous ADAM11 2 83020 2.40906E-5 41510 0 3.18735E-5
17-42848999-G-A p.Pro143Pro synonymous ADAM11 3 83022 3.6135E-5 41511 0 0.00100806
17-42849005-C-T p.Ser145Ser synonymous ADAM11 1 83052 1.20406E-5 41526 0 NA
17-42849008-C-T c.-159C>T 5_prime_UTR_premature_start_codon_gain ADAM11 1 83026 1.20444E-5 41513 0 1.67389E-5
17-42849009-G-A p.Ala147Thr missense ADAM11 1 83020 1.20453E-5 41510 0 1.67339E-5
17-42849011-C-T c.-156C>T 5_prime_UTR_premature_start_codon_gain ADAM11 3 83034 3.61298E-5 41517 0 4.18277E-5
17-42849012-G-A p.Ala148Thr missense ADAM11 1 83032 1.20435E-5 41516 0 3.34566E-5
17-42849017-C-G c.-150C>G 5_prime_UTR_premature_start_codon_gain ADAM11 2 83062 2.40784E-5 41531 0 NA
17-42849148-G-C p.Leu164Phe missense ADAM11 1 83232 1.20146E-5 41616 0 3.18817E-5
17-42849158-G-A p.Val168Met missense ADAM11 12 83200 1.44231E-4 41600 0 1.07462E-4
17-42849169-A-G p.Gln171Gln synonymous ADAM11 18 83206 2.16331E-4 41603 0 2.82574E-4
17-42849177-C-T p.Ala174Val missense ADAM11 1 83188 1.2021E-5 41594 0 7.96159E-6
17-42849183-C-T p.Pro176Leu missense ADAM11 2 83178 2.40448E-5 41589 0 NA
17-42849203-A-G c.543+4A>G splice_region ADAM11 2 83066 2.40772E-5 41533 0 3.19081E-5
17-42849205-C-A c.543+6C>A splice_region ADAM11 3 83044 3.61254E-5 41522 0 1.66911E-5
17-42849640-C-G p.Pro183Pro synonymous ADAM11 1 81710 1.22384E-5 40855 0 NA
17-42849645-C-T p.Pro185Leu missense ADAM11 3 81728 3.67071E-5 40864 0 4.14532E-6
17-42849652-C-A p.Leu187Leu synonymous ADAM11 1 81678 1.22432E-5 40839 0 4.14938E-6
17-42849659-C-T p.Arg190Trp missense ADAM11 9 81628 1.10256E-4 40814 0 1.28016E-4
17-42849660-G-A p.Arg190Gln missense ADAM11 360 81552 0.00441436 40776 0 0.0101317
17-42849661-G-A p.Arg190Arg synonymous ADAM11 1 81600 1.22549E-5 40800 0 NA
17-42849663-C-T p.Thr191Ile missense ADAM11 1 81614 1.22528E-5 40807 0 1.27894E-4
17-42849664-C-T p.Thr191Thr synonymous ADAM11 1 81600 1.22549E-5 40800 0 NA
17-42849676-A-G p.Pro195Pro synonymous ADAM11 1 81522 1.22666E-5 40761 0 4.22601E-6
17-42849678-A-T p.Asp196Val missense ADAM11 2 81476 2.45471E-5 40738 0 NA
17-42849680-C-A p.Pro197Thr missense ADAM11 2 81460 2.45519E-5 40730 0 8.53199E-6
17-42849685-C-T c.-3C>T 5_prime_UTR_premature_start_codon_gain ADAM11 6 81392 7.37173E-5 40696 0 0.00202634
17-42849686-G-A p.Gly199Arg missense ADAM11 2 81400 2.457E-5 40700 0 6.25E-4
17-42849706-G-C c.610+5G>C splice_region ADAM11 1 81116 1.2328E-5 40558 0 3.18959E-5
17-42849759-C-T c.611-8C>T splice_region ADAM11 1 80558 1.24134E-5 40279 0 NA
17-42849763-A-C c.611-4A>C splice_region ADAM11 1 80504 1.24217E-5 40252 0 9.59202E-5
17-42849773-T-A p.Leu206Gln missense ADAM11 1 80502 1.24221E-5 40251 0 NA
17-42849787-G-A p.Ala211Thr missense ADAM11 2 80424 2.48682E-5 40212 0 NA
17-42849788-C-T p.Ala211Val missense ADAM11 1 80420 1.24347E-5 40210 0 2.6287E-5
17-42849792-G-A p.Val14Ile missense ADAM11 2 80364 2.48868E-5 40182 0 5.26793E-6
17-42849794-C-T p.Ser213Leu missense ADAM11 2 80284 2.49116E-5 40142 0 0.00153531
17-42849795-G-A p.Gly15Ser missense ADAM11 1 80224 1.24651E-5 40112 0 3.39466E-5
17-42849796-G-T p.Ala214Ser missense ADAM11 20 80248 2.49227E-4 40124 0 0.00307062
17-42849796-G-A p.Ala214Thr missense ADAM11 1 80250 1.24611E-5 40125 0 3.18898E-5
17-42849808-C-T p.Arg218Trp missense ADAM11 4 80158 4.99014E-5 40079 0 5.10204E-4
17-42849809-G-A p.Arg218Gln missense ADAM11 1 80084 1.24869E-5 40042 0 3.58038E-5
17-42849813-G-A p.Glu21Lys missense ADAM11 24 80006 2.99977E-4 40003 0 0.00764526
17-42849819-G-A p.Glu23Lys missense ADAM11 1 79932 1.25106E-5 39966 0 5.37704E-6
17-42849832-C-G c.674+2C>G splice_donor ADAM11 1 79570 1.25676E-5 39785 0 4.02706E-5
17-42850216-A-AC c.679-9_679-8insC splice_region ADAM11 1 82766 1.20823E-5 41383 0 NA
17-42850217-C-T c.679-8C>T splice_region ADAM11 1 82840 1.20715E-5 41420 0 NA
17-42850221-C-G c.679-4C>G splice_region ADAM11 2 82910 2.41225E-5 41455 0 6.38244E-5
17-42850231-C-T p.Arg229Trp missense ADAM11 2 82924 2.41185E-5 41462 0 2.79185E-5
17-42850235-G-A p.Gly230Asp missense ADAM11 1 82966 1.20531E-5 41483 0 3.19101E-5
17-42850241-C-G p.Pro232Arg missense ADAM11 1 83008 1.2047E-5 41504 0 3.18918E-5
17-42850243-A-G p.Thr233Ala missense ADAM11 4 83012 4.81858E-5 41506 0 0.00114972
17-42850245-A-G p.Gln232Arg missense ADAM11 1 82996 1.20488E-5 41498 0 3.19734E-5
17-42850260-C-A p.Pro237Gln missense ADAM11 3 83034 3.61298E-5 41517 0 7.95735E-6
17-42850262-A-C p.Lys239Thr missense ADAM11 1 83030 1.20438E-5 41515 0 NA
17-42850263-G-A p.Ser238Asn missense ADAM11 1 83034 1.20433E-5 41517 0 2.31489E-4
17-42850264-T-C p.Tyr240His missense ADAM11 1 83032 1.20435E-5 41516 0 NA
17-42850272-G-A p.Ser241Asn missense ADAM11 1 82998 1.20485E-5 41499 0 4.95884E-5
17-42850274-T-C p.Ter242Glnext*? stop_lost ADAM11 1 82954 1.20549E-5 41477 0 NA
17-42850287-C-T p.Asn247Asn synonymous ADAM11 7 82816 8.45247E-5 41408 0 5.03525E-4
17-42850302-G-A c.753+3G>A splice_region ADAM11 3 82824 3.62214E-5 41412 0 3.30453E-5
17-42850377-C-T c.754-5C>T splice_region ADAM11 2 83042 2.40842E-5 41521 0 NA
17-42850384-C-T p.Phe252Phe splice_region+synonymous ADAM11 1 83020 1.20453E-5 41510 0 9.56755E-5
17-42850394-C-A p.Arg256Arg synonymous ADAM11 2 83036 2.40859E-5 41518 0 8.2526E-6
17-42850394-C-T p.Arg256* stop_gained ADAM11 1 83036 1.2043E-5 41518 0 8.2526E-6
17-42850395-G-A p.Arg256Gln missense ADAM11 1 83046 1.20415E-5 41523 0 8.25219E-6
17-42850401-CGGT-C p.Val260del disruptive_inframe_deletion ADAM11 1 83038 1.20427E-5 41519 0 NA
17-42850401-C-T p.Ser258Leu missense ADAM11 1 83038 1.20427E-5 41519 0 8.25137E-6
17-42850402-G-A p.Ser258Ser synonymous ADAM11 4 83030 4.81754E-5 41515 0 6.38244E-5
17-42850414-C-T p.Thr262Thr synonymous ADAM11 4 83044 4.81672E-5 41522 0 NA
17-42850447-C-T p.Ala273Ala synonymous ADAM11 1 82918 1.20601E-5 41459 0 3.18314E-5
17-42850447-C-A p.Ala273Ala synonymous ADAM11 1 82918 1.20601E-5 41459 0 8.26009E-6
17-42850450-T-C p.Asp274Asp synonymous ADAM11 2 82926 2.41179E-5 41463 0 3.19877E-5
17-42850643-G-A p.Gln280Gln synonymous ADAM11 3 82970 3.61576E-5 41485 0 2.47459E-5
17-42850653-C-T p.Arg284Cys missense ADAM11 1 82986 1.20502E-5 41493 0 3.18898E-5
17-42850656-A-G p.Ile285Val missense ADAM11 38 83002 4.5782E-4 41501 0 0.00251762
17-42850658-C-T p.Ile285Ile synonymous ADAM11 2 83010 2.40935E-5 41505 0 2.47288E-5
17-42850659-G-A p.Val286Ile missense ADAM11 4 83000 4.81928E-5 41500 0 9.56572E-5
17-42850676-A-G p.Glu291Glu synonymous ADAM11 2 83048 2.40825E-5 41524 0 8.24103E-6
17-42850705-T-A p.Val301Glu missense ADAM11 1 83014 1.20462E-5 41507 0 3.97738E-6
17-42850733-C-T p.Ala310Ala synonymous ADAM11 5 82852 6.03486E-5 41426 0 3.18674E-5
17-42850734-C-T p.Arg311Trp missense ADAM11 10 82838 1.20718E-4 41419 0 0.00151057
17-42850735-G-A p.Arg311Gln missense ADAM11 4 82836 4.82882E-5 41418 0 9.15248E-5
17-42850737-C-T p.Leu312Phe missense ADAM11 3 82836 3.62161E-5 41418 0 3.97909E-6
17-42850750-G-A p.Arg316Gln missense ADAM11 1 82752 1.20843E-5 41376 0 2.47676E-5
17-42850752-C-T p.Arg317Trp missense ADAM11 2 82712 2.41803E-5 41356 0 5.77997E-5
17-42850753-G-A p.Arg317Gln missense ADAM11 1 82728 1.20878E-5 41364 0 8.25887E-6
17-42850755-G-A p.Glu318Lys missense ADAM11 1 82742 1.20858E-5 41371 0 NA
17-42850769-G-A p.Glu322Glu synonymous ADAM11 3 82484 3.63707E-5 41242 0 7.97175E-6
17-42850773-A-G p.Ser324Gly missense ADAM11 2 82466 2.42524E-5 41233 0 3.98619E-6
17-42850801-T-G c.992+6T>G splice_region ADAM11 1 81440 1.2279E-5 40720 0 NA
17-42850803-C-G c.992+8C>G splice_region ADAM11 1 81606 1.2254E-5 40803 0 NA
17-42851659-C-A c.993-4C>A splice_region ADAM11 1 55028 1.81726E-5 27514 0 NA
17-42851661-A-C c.993-2A>C splice_acceptor ADAM11 1 55770 1.79308E-5 27885 0 NA
17-42851666-C-A p.Gly332Gly synonymous ADAM11 1 56544 1.76853E-5 28272 0 NA
17-42851672-C-G p.Thr334Thr synonymous ADAM11 3 58386 5.13822E-5 29193 0 3.19264E-5
17-42851684-G-T p.Thr338Thr synonymous ADAM11 1 61456 1.62718E-5 30728 0 NA
17-42851684-G-C p.Thr338Thr synonymous ADAM11 3 61456 4.88154E-5 30728 0 5.24659E-4
17-42851693-G-A p.Gly341Gly synonymous ADAM11 1 64574 1.54861E-5 32287 0 0.00208333
17-42851694-G-A p.Ala342Thr missense ADAM11 1 64652 1.54674E-5 32326 0 1.41523E-4
17-42851698-C-T p.Ala343Val missense ADAM11 1 65636 1.52355E-5 32818 0 NA
17-42851705-G-C p.Val345Val synonymous ADAM11 5 68516 7.29757E-5 34258 0 1.33797E-4
17-42851707-G-A p.Gly346Glu missense ADAM11 1 69090 1.44739E-5 34545 0 NA
17-42851711-C-A p.Gly347Gly synonymous ADAM11 2 69398 2.88193E-5 34699 0 0.00155763
17-42851719-C-T p.Ser350Phe missense ADAM11 1 71644 1.39579E-5 35822 0 NA
17-42851723-G-A p.Leu351Leu synonymous ADAM11 1 72224 1.38458E-5 36112 0 NA
17-42851726-C-G p.Ser352Ser synonymous ADAM11 1 72804 1.37355E-5 36402 0 NA
17-42851729-C-T p.His353His synonymous ADAM11 31519 58372 0.539968 29186 7755 0.677399
17-42851731-G-C p.Gly354Ala missense ADAM11 1 73408 1.36225E-5 36704 0 3.18939E-5
17-42851732-C-G p.Gly354Gly synonymous ADAM11 1 73156 1.36694E-5 36578 0 NA
17-42851734-G-T p.Gly355Val missense ADAM11 1 74308 1.34575E-5 37154 0 NA
17-42851738-T-G p.Gly356Gly synonymous ADAM11 5 72388 6.90722E-5 36194 0 0.0238854
17-42851744-C-T p.Asn358Asn synonymous ADAM11 2 74892 2.67051E-5 37446 0 NA
17-42851750-G-A c.1077+3G>A splice_region ADAM11 1 76580 1.30582E-5 38290 0 7.85842E-6
17-42851853-C-T c.1078-7C>T splice_region ADAM11 1 82594 1.21074E-5 41297 0 NA
17-42851863-G-A p.Gly361Ser missense ADAM11 1 82706 1.2091E-5 41353 0 2.62775E-5
17-42851901-G-A p.Thr373Thr synonymous ADAM11 1 82922 1.20595E-5 41461 0 1.19811E-5
17-42851915-T-G p.Leu378Arg missense ADAM11 1 82950 1.20555E-5 41475 0 NA
17-42851935-C-T p.His385Tyr missense ADAM11 2 82912 2.4122E-5 41456 0 8.40774E-6
17-42851938-C-A p.Arg386Arg synonymous ADAM11 2 82864 2.41359E-5 41432 0 1.68311E-5
17-42851945-C-T p.Ser388Leu missense ADAM11 14 82834 1.69013E-4 41417 0 4.16597E-4
17-42851949-A-G p.Ala389Ala splice_region+synonymous ADAM11 2 82830 2.41458E-5 41415 0 6.37349E-5
17-42851949-A-C p.Ala389Ala splice_region+synonymous ADAM11 2 82830 2.41458E-5 41415 0 NA
17-42852058-C-T c.1169-8C>T splice_region ADAM11 2 82906 2.41237E-5 41453 0 NA
17-42852061-C-T c.1169-5C>T splice_region ADAM11 21036 82302 0.255595 41151 2704 0.25708
17-42852574-A-G c.1221-6A>G splice_region ADAM11 1 82422 1.21327E-5 41211 0 1.65837E-5
17-42852604-G-T p.Ser415Ser synonymous ADAM11 49821 80908 0.615773 40454 15349 0.658125
17-42852610-T-C p.Cys417Cys synonymous ADAM11 72611 80698 0.899787 40349 32686 0.929003
17-42852616-C-G p.Ile419Met missense ADAM11 1 82852 1.20697E-5 41426 0 2.38679E-5
17-42852663-T-G p.Phe435Cys missense ADAM11 2 82722 2.41774E-5 41361 0 NA
17-42852664-C-T p.Phe435Phe synonymous ADAM11 8 82708 9.67258E-5 41354 0 5.57241E-5
17-42852670-G-A p.Lys437Lys synonymous ADAM11 1 82668 1.20966E-5 41334 0 8.27376E-6
17-42852776-A-C p.Pro445Pro synonymous ADAM11 8 81466 9.82005E-5 40733 0 3.24586E-5
17-42852821-C-T p.Cys460Cys synonymous ADAM11 7 78118 8.9608E-5 39059 0 0.00101215
17-42852824-C-T p.Gly461Gly synonymous ADAM11 2 77718 2.57341E-5 38859 0 4.19161E-6
17-42852841-G-T c.1392+8G>T splice_region ADAM11 1 75320 1.32767E-5 37660 0 NA
17-42852949-C-A c.1393-3C>A splice_region ADAM11 1 65088 1.53638E-5 32544 0 NA
17-42853003-G-C p.Asp482His missense ADAM11 1 58548 1.708E-5 29274 0 2.62013E-5
17-42853006-G-A p.Ala483Thr missense ADAM11 1 58084 1.72164E-5 29042 0 NA
17-42853017-C-T p.Ser486Ser synonymous ADAM11 7 56350 1.24224E-4 28175 0 0.00101626
17-42853020-C-T p.Asp487Asp synonymous ADAM11 1 55786 1.79256E-5 27893 0 NA
17-42853033-C-T p.Arg492Cys missense ADAM11 1 53456 1.8707E-5 26728 0 NA
17-42853037-G-T p.Arg493Leu missense ADAM11 1 52820 1.89322E-5 26410 0 2.92141E-5
17-42853041-C-T p.Cys494Cys synonymous ADAM11 1 52368 1.90956E-5 26184 0 5.41746E-4
17-42853045-G-A c.1485+1G>A splice_donor ADAM11 1 52066 1.92064E-5 26033 0 NA
17-42853507-G-A p.Gly500Ser missense ADAM11 4 82852 4.82789E-5 41426 0 8.30496E-6
17-42853515-C-T p.Ser502Ser synonymous ADAM11 1 82888 1.20645E-5 41444 0 5.03525E-4
17-42853527-C-G p.Ala506Ala synonymous ADAM11 1 82912 1.2061E-5 41456 0 3.19734E-5
17-42853527-C-T p.Ala506Ala synonymous ADAM11 2 82912 2.4122E-5 41456 0 2.78976E-5
17-42853536-G-C p.Glu509Asp missense ADAM11 3 82918 3.61803E-5 41459 0 1.66201E-5
17-42853570-A-G p.Ser521Gly missense ADAM11 1 82628 1.21024E-5 41314 0 3.99521E-6
17-42853573-C-G p.Gln522Glu missense+splice_region ADAM11 1 82576 1.21101E-5 41288 0 NA
17-42853583-C-T c.1566+8C>T splice_region ADAM11 3 82288 3.64573E-5 41144 0 6.0154E-5
17-42854109-A-G c.1567-4A>G splice_region ADAM11 1 82914 1.20607E-5 41457 0 2.47836E-5
17-42854110-C-T c.1567-3C>T splice_region ADAM11 6 82928 7.23519E-5 41464 0 8.25805E-5
17-42854119-C-T p.Pro525Ser missense ADAM11 1 82974 1.2052E-5 41487 0 3.18613E-5
17-42854136-G-T p.Leu530Leu synonymous ADAM11 1 83076 1.20372E-5 41538 0 6.37267E-5
17-42854163-G-A p.Gln539Gln splice_region+synonymous ADAM11 1 83128 1.20296E-5 41564 0 1.19317E-5
17-42854265-A-G c.1618-2A>G splice_acceptor ADAM11 1 83016 1.20459E-5 41508 0 6.37186E-5
17-42854266-G-C c.1618-1G>C splice_acceptor ADAM11 1 82998 1.20485E-5 41499 0 NA
17-42854277-A-C p.Tyr543Ser missense ADAM11 3 82852 3.62091E-5 41426 0 8.25123E-6
17-42854278-C-T p.Tyr543Tyr synonymous ADAM11 1 82838 1.20718E-5 41419 0 3.18573E-5
17-42854279-G-A p.Gly544Arg missense ADAM11 1 82800 1.20773E-5 41400 0 3.9789E-6
17-42854279-G-GGAGGTCGCTGCAAAACCC p.Arg550_Asp551insGlyArgCysLysThrArg disruptive_inframe_insertion ADAM11 1 82800 1.20773E-5 41400 0 NA
17-42854280-G-C p.Gly544Ala missense ADAM11 1 82780 1.20802E-5 41390 0 6.36943E-5
17-42854283-G-A p.Gly545Asp missense ADAM11 4 82720 4.83559E-5 41360 0 8.25232E-6
17-42854298-G-A p.Arg550Gln missense ADAM11 9 82350 1.0929E-4 41175 0 2.388E-5
17-42854303-C-T p.Arg552Trp missense ADAM11 4 82186 4.86701E-5 41093 0 4.95753E-5
17-42854304-G-A p.Arg552Gln missense ADAM11 1 82132 1.21755E-5 41066 0 5.7857E-5
17-42854332-T-G c.1681+2T>G splice_donor ADAM11 2 81142 2.46481E-5 40571 0 8.29724E-6
17-42854333-G-A c.1681+3G>A splice_region ADAM11 2 81092 2.46633E-5 40546 0 NA
17-42854534-C-T p.Ala561Val missense+splice_region ADAM11 2 79852 2.50463E-5 39926 0 6.25E-4
17-42854535-G-A p.Ala561Ala splice_region+synonymous ADAM11 1 80020 1.24969E-5 40010 0 NA
17-42854544-T-C p.Asp564Asp synonymous ADAM11 5 80450 6.21504E-5 40225 0 4.11201E-6
17-42854545-C-T p.Arg565Cys missense ADAM11 1 80472 1.24267E-5 40236 0 NA
17-42854546-G-A p.Arg565His missense ADAM11 1 80510 1.24208E-5 40255 0 1.72735E-5
17-42854561-A-G p.Lys570Arg missense ADAM11 1 81380 1.2288E-5 40690 0 NA
17-42854579-C-T p.Thr576Met missense ADAM11 2 81856 2.44332E-5 40928 0 1.01032E-4
17-42854580-G-A p.Thr576Thr synonymous ADAM11 211 81922 0.00257562 40961 1 0.0029648
17-42854580-G-C p.Thr576Thr synonymous ADAM11 1 81942 1.22038E-5 40971 0 4.20705E-5
17-42854582-A-G p.Glu577Gly missense ADAM11 1 82004 1.21945E-5 41002 0 NA
17-42854583-G-T p.Glu577Asp missense ADAM11 3 82040 3.65675E-5 41020 0 NA
17-42854585-G-A p.Arg578His missense ADAM11 2 82108 2.43582E-5 41054 0 2.52058E-5
17-42854599-C-T p.Arg583Cys missense ADAM11 3 82378 3.64175E-5 41189 0 8.38265E-6
17-42854600-G-A p.Arg583His missense ADAM11 8 82422 9.70615E-5 41211 0 0.00151057
17-42854601-C-T p.Arg583Arg synonymous ADAM11 1 82444 1.21294E-5 41222 0 4.0567E-6
17-42854606-G-A p.Gly585Glu missense ADAM11 3 82526 3.63522E-5 41263 0 NA
17-42854610-T-C p.Ser586Ser synonymous ADAM11 50545 81402 0.620931 40701 15886 0.656875
17-42854614-T-C p.Trp588Arg missense ADAM11 1 82588 1.21083E-5 41294 0 4.0801E-6
17-42854832-C-T c.1464-8C>T splice_region ADAM11 2 82978 2.41028E-5 41489 0 1.65453E-5
17-42854836-A-G c.1464-4A>G splice_region ADAM11 1 82984 1.20505E-5 41492 0 8.26392E-6
17-42854853-C-T p.Arg493Cys missense ADAM11 11 83078 1.32406E-4 41539 0 9.89446E-5
17-42854854-G-A p.Val596Met missense ADAM11 1 83062 1.20392E-5 41531 0 8.24307E-6
17-42854890-G-C p.Gly608Arg missense ADAM11 4 83104 4.81325E-5 41552 0 3.18715E-5
17-42854893-G-A p.Ala609Thr missense ADAM11 1 83108 1.20325E-5 41554 0 NA
17-42854894-C-T p.Ala609Val missense ADAM11 1 83114 1.20317E-5 41557 0 NA
17-42854895-T-C p.Ser507Pro missense ADAM11 1 83126 1.20299E-5 41563 0 3.18634E-5
17-42854900-G-A p.Arg611Gln missense ADAM11 7 83094 8.42419E-5 41547 0 3.18695E-5
17-42854901-G-A p.Ala509Thr missense ADAM11 3 83102 3.61002E-5 41551 0 3.18593E-5
17-42854917-G-A p.Gly617Arg missense ADAM11 1 83048 1.20412E-5 41524 0 8.23791E-6
17-42854940-C-A p.Phe624Leu missense ADAM11 1 83004 1.20476E-5 41502 0 8.23913E-6
17-42854950-G-A p.Gly628Ser missense ADAM11 1 82958 1.20543E-5 41479 0 NA
17-42854958-G-A p.Glu630Glu synonymous ADAM11 4 82902 4.82497E-5 41451 0 1.671E-4
17-42855072-C-T p.His637His synonymous ADAM11 2 82754 2.4168E-5 41377 0 7.97493E-6
17-42855073-G-A p.Val638Met missense ADAM11 2 82772 2.41628E-5 41386 0 6.25E-4
17-42855073-G-C p.Val638Leu missense ADAM11 1 82772 1.20814E-5 41386 0 1.19608E-5
17-42855083-C-T p.Ala641Val missense ADAM11 18 82708 2.17633E-4 41354 0 6.42094E-4
17-42855084-G-T p.Ala641Ala synonymous ADAM11 1 82724 1.20884E-5 41362 0 NA
17-42855087-C-T p.Asp642Asp synonymous ADAM11 2 82702 2.41832E-5 41351 0 1.59449E-4
17-42855088-G-A p.Gly643Ser missense ADAM11 7 82712 8.4631E-5 41356 0 6.25E-4
17-42855096-C-A p.Asp645Glu missense ADAM11 1 82746 1.20852E-5 41373 0 8.262E-6
17-42855100-A-G p.Ser647Gly missense ADAM11 1 82700 1.20919E-5 41350 0 3.19305E-5
17-42855106-G-T p.Val649Leu missense ADAM11 2 82718 2.41785E-5 41359 0 1.59344E-5
17-42855117-C-T p.Gly652Gly synonymous ADAM11 2 82674 2.41914E-5 41337 0 3.18674E-5
17-42855122-C-T p.Ala654Val missense ADAM11 3 82658 3.62941E-5 41329 0 8.2702E-6
17-42855126-C-T p.Cys655Cys synonymous ADAM11 7 82618 8.47273E-5 41309 0 2.23157E-4
17-42855127-G-A p.Gly656Arg missense ADAM11 1 82634 1.21016E-5 41317 0 NA
17-42855130-C-T p.Pro657Ser missense ADAM11 6 82624 7.26181E-5 41312 0 3.82434E-4
17-42855133-A-G p.Asn658Asp missense ADAM11 2 82612 2.42096E-5 41306 0 NA
17-42855134-A-G p.Asn658Ser missense ADAM11 1 82624 1.2103E-5 41312 0 3.98419E-6
17-42855136-ATGT-A p.Leu660del disruptive_inframe_deletion ADAM11 1 82636 1.21013E-5 41318 0 NA
17-42855162-G-A p.Leu667Leu synonymous ADAM11 1 82620 1.21036E-5 41310 0 NA
17-42855168-T-A n.641T>A splice_region ADAM11 1 82660 1.20978E-5 41330 0 3.98664E-6
17-42855196-G-C p.Gly679Arg missense ADAM11 1 82508 1.212E-5 41254 0 NA
17-42855203-G-A p.Gly681Glu missense ADAM11 1 82552 1.21136E-5 41276 0 1.19771E-5
17-42855207-G-A p.Glu682Glu synonymous ADAM11 1 82490 1.21227E-5 41245 0 1.19778E-5
17-42855209-G-A p.Arg683His missense ADAM11 1 82440 1.213E-5 41220 0 1.65862E-5
17-42855211-C-T p.Arg684Trp missense ADAM11 5 82508 6.06002E-5 41254 0 9.98124E-5
17-42855218-G-T p.Cys686Phe missense ADAM11 2 82470 2.42512E-5 41235 0 NA
17-42855228-C-T p.His689His synonymous ADAM11 2 82432 2.42624E-5 41216 0 1.65739E-5
17-42855234-G-A c.2070+3G>A splice_region ADAM11 1 82382 1.21386E-5 41191 0 7.98831E-6
17-42855330-A-G p.Asn694Ser missense ADAM11 2 82892 2.41278E-5 41446 0 3.98121E-6
17-42855335-G-A p.Gly696Arg missense ADAM11 1 82936 1.20575E-5 41468 0 8.26638E-6
17-42855346-C-T p.Ile699Ile synonymous ADAM11 6 82982 7.23048E-5 41491 0 0.00125
17-42855350-C-T p.Gln701* stop_gained ADAM11 1 82978 1.20514E-5 41489 0 NA
17-42855353-C-G p.Pro702Ala missense ADAM11 1 82978 1.20514E-5 41489 0 NA
17-42855394-G-C p.Leu715Leu synonymous ADAM11 1 83032 1.20435E-5 41516 0 NA
17-42855399-C-T p.Thr717Met missense ADAM11 7 83030 8.43069E-5 41515 0 6.25E-4
17-42855400-G-A p.Thr717Thr synonymous ADAM11 20 83004 2.40952E-4 41502 0 4.46372E-4
17-42855402-C-T p.Ser718Phe missense ADAM11 2 83020 2.40906E-5 41510 0 8.27363E-6
17-42855407-C-A p.Pro720Thr missense ADAM11 1 82958 1.20543E-5 41479 0 NA
17-42855411-C-T p.Thr721Met missense ADAM11 2 82910 2.41225E-5 41455 0 5.03525E-4
17-42855411-C-A p.Thr721Lys missense ADAM11 1 82910 1.20613E-5 41455 0 NA
17-42855420-C-T p.Thr724Met missense ADAM11 2 82866 2.41354E-5 41433 0 1.99843E-5
17-42855421-G-A p.Thr724Thr synonymous ADAM11 19 82870 2.29275E-4 41435 0 9.03155E-4
17-42855428-T-C p.Tyr727His missense ADAM11 1 82878 1.20659E-5 41439 0 8.28844E-6
17-42855439-G-A c.2185+5G>A splice_region ADAM11 1 82816 1.2075E-5 41408 0 NA
17-42855440-G-GCTC c.2185+6_2185+7insCTC splice_region ADAM11 1 82802 1.2077E-5 41401 0 8.29862E-6
17-42855527-C-T p.Ser731Ser synonymous ADAM11 5 82588 6.05415E-5 41294 0 3.18695E-5
17-42855537-A-G p.Ile735Val missense ADAM11 3 82672 3.6288E-5 41336 0 NA
17-42855549-T-G p.Ser739Ala missense ADAM11 1 82548 1.21142E-5 41274 0 NA
17-42855554-T-C p.Ile740Ile synonymous ADAM11 48387 79066 0.611982 39533 14897 0.658125
17-42855566-C-T p.Val744Val synonymous ADAM11 1 82204 1.21649E-5 41102 0 3.99674E-6
17-42855581-C-T p.Ile749Ile synonymous ADAM11 1 81392 1.22862E-5 40696 0 NA
17-42855582-G-A p.Val750Ile missense ADAM11 3 81248 3.6924E-5 40624 0 6.31815E-5
17-42855586-T-C p.Leu751Pro missense ADAM11 2 80916 2.4717E-5 40458 0 NA
17-42855590-C-T p.Gly752Gly synonymous ADAM11 6 80372 7.46529E-5 40186 0 1.29294E-4
17-42855590-C-A p.Gly752Gly synonymous ADAM11 1 80372 1.24421E-5 40186 0 1.20597E-5
17-42856583-C-G c.2277-7C>G splice_region ADAM11 1 82678 1.20951E-5 41339 0 8.24443E-6
17-42856597-C-G p.Arg762Gly missense ADAM11 1 82726 1.20881E-5 41363 0 NA
17-42856601-G-A p.Arg763Gln missense ADAM11 1 82720 1.2089E-5 41360 0 3.18857E-5
17-42856601-G-C p.Arg763Pro missense ADAM11 1 82720 1.2089E-5 41360 0 NA
17-42856614-C-T c.2294+7C>T splice_region ADAM11 1 82732 1.20872E-5 41366 0 NA
17-42857099-C-T c.2295-8C>T splice_region ADAM11 4 80686 4.95749E-5 40343 0 9.22401E-5
17-42857100-G-A c.2295-7G>A splice_region ADAM11 12 80718 1.48666E-4 40359 0 1.82108E-4
17-42857110-C-T p.Ser766Ser synonymous ADAM11 2 80990 2.46944E-5 40495 0 9.56267E-5
17-42857115-G-A p.Gly768Glu missense ADAM11 2 81114 2.46567E-5 40557 0 8.3612E-6
17-42857116-G-A p.Gly768Gly synonymous ADAM11 2 81120 2.46548E-5 40560 0 4.12466E-6
17-42857242-AC-A c.*121delC splice_region ADAM11 11 79036 1.39177E-4 39518 0 1.17224E-4