Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-7975954-G-A c.*135C>T splice_region ALOX12B 25 65194 3.83471E-4 32597 0 6.6879E-4
17-7976093-A-G p.Ile701Thr missense ALOX12B 1 83328 1.20008E-5 41664 0 NA
17-7976100-T-C p.Ile699Val missense ALOX12B 1 83330 1.20005E-5 41665 0 NA
17-7976101-G-T p.Ser698Arg missense ALOX12B 3 83324 3.6004E-5 41662 0 NA
17-7976113-C-A p.Leu694Leu synonymous ALOX12B 1 83326 1.20011E-5 41663 0 5.03525E-4
17-7976118-C-A p.Val693Leu missense ALOX12B 1 83310 1.20034E-5 41655 0 NA
17-7976119-C-T p.Pro692Pro synonymous ALOX12B 1 83324 1.20013E-5 41662 0 NA
17-7976135-T-C p.Tyr687Cys missense ALOX12B 1 83304 1.20042E-5 41652 0 3.97627E-6
17-7976139-G-C p.Pro686Ala missense ALOX12B 1 83306 1.20039E-5 41653 0 NA
17-7976140-G-A p.Ile685Ile synonymous ALOX12B 1 83304 1.20042E-5 41652 0 6.37267E-5
17-7976145-G-C p.Pro684Ala missense ALOX12B 4 83298 4.80204E-5 41649 0 NA
17-7976150-C-T p.Cys682Tyr missense ALOX12B 2 83276 2.40165E-5 41638 0 1.59052E-5
17-7976152-C-T p.Lys681Lys synonymous ALOX12B 1 83278 1.2008E-5 41639 0 7.95273E-6
17-7976159-C-T p.Arg679His missense ALOX12B 2 83220 2.40327E-5 41610 0 8.23764E-6
17-7976166-G-A p.Arg677Cys missense ALOX12B 1 83222 1.20161E-5 41611 0 NA
17-7976174-T-C p.His674Arg missense ALOX12B 1 83198 1.20195E-5 41599 0 3.18654E-5
17-7976187-T-A p.Asn670Tyr missense ALOX12B 7 83156 8.41791E-5 41578 0 3.9776E-6
17-7976210-A-G p.Ile662Thr missense ALOX12B 1 83082 1.20363E-5 41541 0 8.25859E-6
17-7976223-G-A p.Pro658Ser missense ALOX12B 3 83004 3.61428E-5 41502 0 3.18634E-5
17-7976236-G-A p.Phe653Phe synonymous ALOX12B 1 82952 1.20552E-5 41476 0 1.1986E-5
17-7976254-G-C p.His647Gln missense ALOX12B 1 82854 1.20694E-5 41427 0 6.3743E-5
17-7976257-T-TC p.His647fs frameshift ALOX12B 2 82772 2.41628E-5 41386 0 NA
17-7976259-C-T p.Gly646Arg missense ALOX12B 1 82784 1.20796E-5 41392 0 8.0391E-6
17-7976272-C-CG c.1927-5_1927-4insC splice_region ALOX12B 2 82466 2.42524E-5 41233 0 8.69308E-6
17-7976462-G-A c.1926+4C>T splice_region ALOX12B 1 82182 1.21681E-5 41091 0 NA
17-7976466-C-T p.Arg642Arg splice_region+synonymous ALOX12B 3 82266 3.64671E-5 41133 0 3.18573E-5
17-7976482-C-T p.Arg637Gln missense ALOX12B 1 82352 1.2143E-5 41176 0 NA
17-7976483-G-C p.Arg637Gly missense ALOX12B 3 82344 3.64325E-5 41172 0 8.24443E-6
17-7976485-C-A p.Ser636Ile missense ALOX12B 1 82380 1.21389E-5 41190 0 NA
17-7976499-C-G p.Val631Val synonymous ALOX12B 2 82496 2.42436E-5 41248 0 NA
17-7976533-G-T p.Pro620Gln missense ALOX12B 2 82730 2.4175E-5 41365 0 8.23818E-6
17-7976533-G-A p.Pro620Leu missense ALOX12B 2 82730 2.4175E-5 41365 0 3.18674E-5
17-7976538-C-A p.Thr618Thr synonymous ALOX12B 10 82770 1.20817E-4 41385 0 9.55536E-5
17-7976544-C-T p.Met616Ile missense ALOX12B 1 82818 1.20747E-5 41409 0 NA
17-7976550-G-A p.Thr614Thr synonymous ALOX12B 2 82828 2.41464E-5 41414 0 5.16952E-5
17-7976563-G-C p.Thr610Ser missense ALOX12B 1 82888 1.20645E-5 41444 0 NA
17-7976563-G-A p.Thr610Ile missense ALOX12B 2 82888 2.41289E-5 41444 0 1.98823E-5
17-7976567-G-A p.Leu609Leu synonymous ALOX12B 2 82914 2.41214E-5 41457 0 8.23832E-6
17-7976576-T-G p.Thr606Pro missense ALOX12B 1 82918 1.20601E-5 41459 0 3.9764E-6
17-7976583-C-T p.Pro603Pro synonymous ALOX12B 1 82892 1.20639E-5 41446 0 2.47141E-5
17-7976584-G-T p.Pro603Gln missense ALOX12B 1 82896 1.20633E-5 41448 0 NA
17-7976588-G-A p.Pro602Ser missense ALOX12B 1 82872 1.20668E-5 41436 0 1.5906E-5
17-7976594-G-T p.Arg600Arg synonymous ALOX12B 1 82846 1.20706E-5 41423 0 8.23818E-6
17-7976599-G-A p.Ser598Phe missense ALOX12B 1 82854 1.20694E-5 41427 0 3.97659E-6
17-7976600-A-G p.Ser598Pro missense ALOX12B 1 82834 1.20723E-5 41417 0 NA
17-7976602-G-T p.Ala597Glu missense ALOX12B 3 82844 3.62126E-5 41422 0 1.9118E-4
17-7976611-T-C p.Asn594Ser missense ALOX12B 2 82872 2.41336E-5 41436 0 3.18796E-5
17-7976617-A-T p.Met592Lys missense ALOX12B 1 82830 1.20729E-5 41415 0 NA
17-7976627-T-C p.Thr589Ala missense ALOX12B 1 82808 1.20761E-5 41404 0 NA
17-7976974-C-T c.1755+1G>A splice_donor ALOX12B 1 82852 1.20697E-5 41426 0 NA
17-7977014-G-A p.Tyr572Tyr synonymous ALOX12B 2 82938 2.41144E-5 41469 0 3.97747E-6
17-7977032-A-G p.Tyr566Tyr synonymous ALOX12B 2 82896 2.41266E-5 41448 0 1.66362E-5
17-7977076-C-T c.1655-1G>A splice_acceptor ALOX12B 1 82462 1.21268E-5 41231 0 NA
17-7977082-G-A c.1655-7C>T splice_region ALOX12B 3 82310 3.64476E-5 41155 0 6.3743E-5
17-7978910-T-C c.1654+3A>G splice_region ALOX12B 3 83108 3.60976E-5 41554 0 4.12004E-5
17-7978924-C-T p.Arg548Gln missense ALOX12B 2 83220 2.40327E-5 41610 0 2.47129E-5
17-7978925-G-A p.Arg548Trp missense ALOX12B 3 83202 3.60568E-5 41601 0 0.00100705
17-7978932-G-A p.Leu545Leu synonymous ALOX12B 2 83264 2.402E-5 41632 0 6.37471E-5
17-7978939-TC-T p.Glu543fs frameshift ALOX12B 1 83314 1.20028E-5 41657 0 NA
17-7978952-C-G p.Glu539Gln missense ALOX12B 1 83312 1.20031E-5 41656 0 NA
17-7978958-C-T p.Val537Met missense ALOX12B 2 83312 2.40061E-5 41656 0 NA
17-7978961-A-G p.Trp536Arg missense ALOX12B 1 83312 1.20031E-5 41656 0 NA
17-7978968-C-T p.Leu533Leu synonymous ALOX12B 5 83322 6.00082E-5 41661 0 3.18634E-5
17-7978974-C-T p.Pro531Pro synonymous ALOX12B 5 83316 6.00125E-5 41658 0 9.14549E-5
17-7978975-G-A p.Pro531Leu missense ALOX12B 1 83314 1.20028E-5 41657 0 2.47093E-5
17-7978981-C-T p.Gly529Asp missense ALOX12B 14 83300 1.68067E-4 41650 0 1.59052E-4
17-7978982-C-A p.Gly529Cys missense ALOX12B 2 83298 2.40102E-5 41649 0 8.23642E-6
17-7978988-C-T p.Val527Met missense ALOX12B 6 83310 7.20202E-5 41655 0 6.37146E-5
17-7978989-G-A p.Ala526Ala synonymous ALOX12B 12 83314 1.44033E-4 41657 0 5.76559E-4
17-7978991-C-T p.Ala526Thr missense ALOX12B 1 83314 1.20028E-5 41657 0 3.18593E-5
17-7978994-C-G p.Ala525Pro missense ALOX12B 2 83312 2.40061E-5 41656 0 NA
17-7978995-G-A p.Asp524Asp synonymous ALOX12B 4 83314 4.80111E-5 41657 0 9.06021E-5
17-7978998-A-C p.Ser523Arg missense ALOX12B 1 83306 1.20039E-5 41653 0 7.95267E-6
17-7979002-G-A p.Pro522Leu missense ALOX12B 21 83306 2.52083E-4 41653 0 0.00108157
17-7979005-T-C p.Tyr521Cys missense ALOX12B 17 83302 2.04077E-4 41651 1 2.71811E-4
17-7979025-C-T p.Thr514Thr synonymous ALOX12B 8 83276 9.60661E-5 41638 0 3.18756E-5
17-7979026-G-A p.Thr514Met missense ALOX12B 4 83274 4.80342E-5 41637 0 6.25E-4
17-7979028-C-A p.Val513Val synonymous ALOX12B 1 83270 1.20091E-5 41635 0 NA
17-7979031-A-G p.Tyr512Tyr synonymous ALOX12B 1 83256 1.20111E-5 41628 0 8.23683E-6
17-7979498-C-T p.Leu509Leu synonymous ALOX12B 2 83144 2.40547E-5 41572 0 NA
17-7979499-A-T p.Leu509Gln missense ALOX12B 1 83148 1.20267E-5 41574 0 3.18532E-5
17-7979510-C-T p.Val505Val synonymous ALOX12B 1 83170 1.20236E-5 41585 0 7.95729E-5
17-7979512-C-T p.Val505Met missense ALOX12B 1 83184 1.20215E-5 41592 0 2.38711E-5
17-7979513-C-T p.Ala504Ala synonymous ALOX12B 23 83188 2.76482E-4 41594 0 1.59337E-4
17-7979514-G-A p.Ala504Val missense ALOX12B 8 83188 9.61677E-5 41594 0 1.91266E-4
17-7979525-A-G p.Asp500Asp synonymous ALOX12B 1 83218 1.20166E-5 41609 0 NA
17-7979528-G-A p.Arg499Arg synonymous ALOX12B 1 83218 1.20166E-5 41609 0 6.37349E-5
17-7979529-C-T p.Arg499His missense ALOX12B 2 83216 2.40338E-5 41608 0 1.6506E-5
17-7979533-A-G p.Tyr498His missense ALOX12B 5 83224 6.00788E-5 41612 0 9.56084E-5
17-7979548-G-A p.Leu493Leu synonymous ALOX12B 4 83206 4.80735E-5 41603 0 8.26351E-6
17-7979551-C-A p.Asp492Tyr missense ALOX12B 1 83204 1.20187E-5 41602 0 3.97807E-6
17-7979562-C-T p.Arg488His missense ALOX12B 1 83170 1.20236E-5 41585 0 3.18796E-5
17-7979564-C-T p.Glu487Glu synonymous ALOX12B 3 83162 3.60742E-5 41581 0 4.14607E-5
17-7979565-TC-T p.Glu487fs frameshift ALOX12B 1 83152 1.20262E-5 41576 0 NA
17-7979575-C-T p.Asp484Asn missense ALOX12B 1 83140 1.20279E-5 41570 0 NA
17-7979577-T-C p.Asn483Ser missense ALOX12B 1 83132 1.20291E-5 41566 0 1.67434E-5
17-7979586-T-G p.Tyr480Ser missense ALOX12B 2 83088 2.40709E-5 41544 0 3.98156E-6
17-7979594-G-A p.Asp477Asp synonymous ALOX12B 4 83066 4.81545E-5 41533 0 5.03525E-4
17-7979609-C-T p.Ser472Ser synonymous ALOX12B 2 82964 2.41068E-5 41482 0 8.0133E-5
17-7979610-G-A p.Ser472Leu missense ALOX12B 2 82958 2.41086E-5 41479 0 3.18796E-5
17-7979617-C-A p.Ala470Ser missense ALOX12B 1 82904 1.20621E-5 41452 0 NA
17-7979619-C-T p.Arg469Gln missense ALOX12B 28 82906 3.37732E-4 41453 0 0.00100705
17-7979620-G-A p.Arg469Trp missense ALOX12B 1 82894 1.20636E-5 41447 0 1.27478E-4
17-7979631-C-A p.Gly465Val missense ALOX12B 80 82864 9.65437E-4 41432 0 0.003125
17-7979635-C-A p.Ala464Ser missense ALOX12B 1 82834 1.20723E-5 41417 0 NA
17-7979648-G-A p.Gly459Gly synonymous ALOX12B 5 82714 6.04493E-5 41357 0 6.37349E-5
17-7979650-C-A p.Gly459Cys missense ALOX12B 1 82718 1.20893E-5 41359 0 NA
17-7979650-C-T p.Gly459Ser missense ALOX12B 1 82718 1.20893E-5 41359 0 NA
17-7979669-G-A c.1363-7C>T splice_region ALOX12B 1 82518 1.21186E-5 41259 0 1.81904E-5
17-7979670-G-A c.1363-8C>T splice_region ALOX12B 1 82498 1.21215E-5 41249 0 NA
17-7979968-G-C c.1362+7C>G splice_region ALOX12B 1 81022 1.23423E-5 40511 0 3.18471E-5
17-7979971-T-G c.1362+4A>C splice_region ALOX12B 11 81056 1.35709E-4 40528 0 1.91107E-4
17-7979972-T-C c.1362+3A>G splice_region ALOX12B 2 81072 2.46694E-5 40536 0 3.18512E-5
17-7979980-C-T p.Ala453Thr missense ALOX12B 2 81094 2.46627E-5 40547 0 NA
17-7979986-G-GC p.Leu451fs frameshift ALOX12B 2 81124 2.46536E-5 40562 0 9.56938E-5
17-7979986-G-A p.Leu451Phe missense ALOX12B 2 81130 2.46518E-5 40565 0 NA
17-7979988-C-T p.Gly450Glu missense ALOX12B 1 81132 1.23256E-5 40566 0 3.18552E-5
17-7979991-C-T p.Gly449Glu missense ALOX12B 1 81154 1.23223E-5 40577 0 1.91507E-5
17-7979992-C-G p.Gly449Arg missense ALOX12B 1 81146 1.23235E-5 40573 0 6.38276E-6
17-7979993-C-A p.Glu448Asp missense ALOX12B 1 81148 1.23232E-5 40574 0 9.55597E-5
17-7979993-C-G p.Glu448Asp missense ALOX12B 2 81148 2.46463E-5 40574 0 9.55597E-5
17-7979993-C-T p.Glu448Glu synonymous ALOX12B 1 81148 1.23232E-5 40574 0 6.25782E-4
17-7980007-C-T p.Val444Ile missense ALOX12B 2 81158 2.46433E-5 40579 0 4.46377E-5
17-7980008-G-A p.Ala443Ala synonymous ALOX12B 12 81146 1.47882E-4 40573 0 9.53925E-5
17-7980012-C-T p.Arg442Gln missense ALOX12B 1 81162 1.2321E-5 40581 0 6.37308E-6
17-7980013-G-A p.Arg442Trp missense ALOX12B 1 81166 1.23204E-5 40583 0 6.37024E-5
17-7980018-A-G p.Ile440Thr missense ALOX12B 2 81170 2.46396E-5 40585 0 6.373E-6
17-7980032-G-A p.Val435Val synonymous ALOX12B 1 81138 1.23247E-5 40569 0 3.18593E-5
17-7980034-C-T p.Val435Ile missense ALOX12B 2 81112 2.46573E-5 40556 0 0.00125471
17-7980035-G-A p.Thr434Thr synonymous ALOX12B 2 81106 2.46591E-5 40553 0 3.82346E-5
17-7980039-T-C p.Tyr433Cys missense ALOX12B 1 81064 1.23359E-5 40532 0 NA
17-7980043-G-A p.Arg432* stop_gained ALOX12B 2 81050 2.46761E-5 40525 0 1.2744E-5
17-7980044-G-A p.Thr431Thr synonymous ALOX12B 2 81046 2.46773E-5 40523 0 6.37146E-5
17-7980059-G-A p.Leu426Leu splice_region+synonymous ALOX12B 1 80832 1.23713E-5 40416 0 6.37885E-6
17-7980066-G-A c.1276-5C>T splice_region ALOX12B 1 80710 1.239E-5 40355 0 NA
17-7980310-T-TG p.Lys425fs frameshift ALOX12B 4 81086 4.93303E-5 40543 0 3.65838E-5
17-7980318-G-A p.Pro422Leu missense ALOX12B 2 81418 2.45646E-5 40709 0 3.18634E-5
17-7980323-G-A p.Cys420Cys synonymous ALOX12B 1 81604 1.22543E-5 40802 0 NA
17-7980329-G-A p.Pro418Pro synonymous ALOX12B 1 81936 1.22046E-5 40968 0 NA
17-7980335-G-T p.Asn416Lys missense ALOX12B 1 82104 1.21797E-5 41052 0 6.3743E-5
17-7980354-C-A p.Cys410Phe missense ALOX12B 106 82474 0.00128525 41237 0 0.00201816
17-7980369-A-G p.Ile405Thr missense ALOX12B 3 82644 3.63003E-5 41322 0 3.18613E-5
17-7980380-C-T p.Glu401Glu synonymous ALOX12B 4 82694 4.83711E-5 41347 0 6.37227E-5
17-7980391-G-A p.His398Tyr missense ALOX12B 2 82748 2.41698E-5 41374 0 8.38701E-6
17-7980398-G-T p.Ala395Ala synonymous ALOX12B 2 82776 2.41616E-5 41388 0 9.5584E-5
17-7980404-G-A p.His393His synonymous ALOX12B 353 82750 0.00426586 41375 3 0.014375
17-7980406-G-C p.His393Asp missense ALOX12B 1 82770 1.20817E-5 41385 0 NA
17-7980419-C-T p.Ala388Ala synonymous ALOX12B 13 82720 1.57157E-4 41360 2 1.17631E-4
17-7980420-G-A p.Ala388Val missense ALOX12B 1 82712 1.20901E-5 41356 0 6.36983E-5
17-7980422-A-G p.Tyr387Tyr synonymous ALOX12B 1 82726 1.20881E-5 41363 0 NA
17-7980423-T-C p.Tyr387Cys missense ALOX12B 1 82732 1.20872E-5 41366 0 1.68039E-5
17-7980426-C-T p.Arg386His missense ALOX12B 3 82714 3.62696E-5 41357 0 1.68296E-5
17-7980427-G-A p.Arg386Cys missense ALOX12B 3 82724 3.62652E-5 41362 0 3.19071E-5
17-7980434-C-T p.Thr383Thr synonymous ALOX12B 1 82708 1.20907E-5 41354 0 1.69308E-5
17-7980435-G-A p.Thr383Met missense ALOX12B 3 82668 3.62897E-5 41334 0 2.58007E-5
17-7980439-T-C p.Lys382Glu missense ALOX12B 1 82662 1.20975E-5 41331 0 4.01329E-6
17-7980458-C-T p.Glu375Glu synonymous ALOX12B 1 82452 1.21283E-5 41226 0 3.99428E-6
17-7980468-C-T p.Ser372Asn missense ALOX12B 1 82496 1.21218E-5 41248 0 NA
17-7980469-T-C p.Ser372Gly missense ALOX12B 1 82474 1.2125E-5 41237 0 NA
17-7980479-G-A p.Ile368Ile synonymous ALOX12B 2 82528 2.42342E-5 41264 0 NA
17-7980482-G-A p.Pro367Pro synonymous ALOX12B 2 82534 2.42324E-5 41267 0 6.25E-4
17-7982707-C-G c.1071+7G>C splice_region ALOX12B 1 79880 1.25188E-5 39940 0 NA
17-7982735-C-T p.Lys350Lys synonymous ALOX12B 6 80630 7.4414E-5 40315 0 4.45259E-5
17-7982741-C-T p.Glu348Glu synonymous ALOX12B 1 80702 1.23913E-5 40351 0 NA
17-7982743-C-G p.Glu348Gln missense ALOX12B 1 80704 1.2391E-5 40352 0 NA
17-7982743-C-T p.Glu348Lys missense ALOX12B 1 80704 1.2391E-5 40352 0 6.38904E-6
17-7982744-G-C p.Pro347Pro synonymous ALOX12B 1 80734 1.23864E-5 40367 0 2.5563E-5
17-7982745-G-A p.Pro347Leu missense ALOX12B 13 80770 1.60951E-4 40385 0 1.27869E-4
17-7982747-T-A p.Gly346Gly synonymous ALOX12B 3 80792 3.71324E-5 40396 0 3.18552E-5
17-7982756-C-T p.Leu343Leu synonymous ALOX12B 2 80986 2.46956E-5 40493 0 NA
17-7982758-G-C p.Leu343Val missense ALOX12B 1 81024 1.2342E-5 40512 0 NA
17-7982759-C-G p.Leu342Leu synonymous ALOX12B 3 81034 3.70215E-5 40517 0 NA
17-7982765-G-A p.Leu340Leu synonymous ALOX12B 3 81054 3.70124E-5 40527 0 1.27356E-4
17-7982766-A-G p.Leu340Pro missense ALOX12B 1 81044 1.2339E-5 40522 0 NA
17-7982770-G-C p.Pro339Ala missense ALOX12B 1 81062 1.23362E-5 40531 0 NA
17-7982774-G-A p.Cys337Cys synonymous ALOX12B 1 81034 1.23405E-5 40517 0 NA
17-7982783-C-A p.Gln334His missense ALOX12B 5 81074 6.1672E-5 40537 0 NA
17-7982784-T-C p.Gln334Arg missense ALOX12B 1 81078 1.23338E-5 40539 0 NA
17-7982790-C-T p.Arg332Gln missense ALOX12B 3 81048 3.70151E-5 40524 0 5.19265E-5
17-7982801-C-T p.Glu328Glu synonymous ALOX12B 5 81040 6.16979E-5 40520 0 NA
17-7982805-A-G p.Val327Ala missense ALOX12B 1 81026 1.23417E-5 40513 0 6.40475E-6
17-7982822-C-A p.Met321Ile missense ALOX12B 1 80880 1.2364E-5 40440 0 1.92226E-5
17-7982823-A-G p.Met321Thr missense ALOX12B 2 80870 2.4731E-5 40435 0 6.40968E-6
17-7982831-G-A p.Tyr318Tyr synonymous ALOX12B 87 80724 0.00107775 40362 1 0.00264399
17-7982841-A-G p.Leu315Pro missense ALOX12B 4 80508 4.96845E-5 40254 1 NA
17-7982843-G-GTAAA p.Ala316fs frameshift ALOX12B 2 80472 2.48534E-5 40236 0 NA
17-7982859-T-C c.928-2A>G splice_acceptor ALOX12B 1 79604 1.25622E-5 39802 0 NA
17-7983080-G-T c.927+7C>A splice_region ALOX12B 23 78958 2.91294E-4 39479 0 6.69515E-4
17-7983091-A-AT p.Leu308fs frameshift ALOX12B 1 79692 1.25483E-5 39846 0 NA
17-7983093-C-A p.Glu307Asp missense ALOX12B 1 79790 1.25329E-5 39895 0 NA
17-7983095-C-G p.Glu307Gln missense ALOX12B 1 79904 1.2515E-5 39952 0 NA
17-7983097-G-A p.Ala306Val missense ALOX12B 1 79966 1.25053E-5 39983 0 3.18695E-5
17-7983098-C-G p.Ala306Pro missense ALOX12B 1 80056 1.24913E-5 40028 0 NA
17-7983099-TTGCA-T p.Leu304fs frameshift ALOX12B 1 80134 1.24791E-5 40067 0 NA
17-7983105-GCACGTTCCC-G p.Glu300_Cys303delinsAsp disruptive_inframe_deletion ALOX12B 1 80520 1.24193E-5 40260 0 NA
17-7983118-C-G p.Gly299Ala missense ALOX12B 1 81080 1.23335E-5 40540 0 NA
17-7983119-C-A p.Gly299Cys missense ALOX12B 2 81104 2.46597E-5 40552 0 1.7909E-5
17-7983120-C-G p.Leu298Leu synonymous ALOX12B 1 81194 1.23162E-5 40597 0 NA
17-7983128-G-T p.Pro296Thr missense ALOX12B 10 81344 1.22935E-4 40672 0 0.00125
17-7983130-G-A p.Ala295Val missense ALOX12B 1 81416 1.22826E-5 40708 0 8.79477E-6
17-7983134-C-G p.Val294Leu missense ALOX12B 3 81618 3.67566E-5 40809 0 1.74911E-5
17-7983156-C-A p.Lys286Asn missense ALOX12B 2 81946 2.44063E-5 40973 0 3.18674E-5
17-7983161-C-G p.Asp285His missense ALOX12B 1 81950 1.22026E-5 40975 0 NA
17-7983169-C-T p.Arg282Gln missense ALOX12B 1 81956 1.22017E-5 40978 0 8.71202E-6
17-7983170-G-C p.Arg282Gly missense ALOX12B 1 81958 1.22014E-5 40979 0 3.18776E-5
17-7983172-G-A p.Thr281Met missense ALOX12B 1 81958 1.22014E-5 40979 0 NA
17-7983177-G-A p.Arg279Arg synonymous ALOX12B 1 81956 1.22017E-5 40978 0 3.18674E-5
17-7983182-G-A p.Arg278Cys missense ALOX12B 2 81902 2.44194E-5 40951 0 6.83137E-5
17-7983186-C-A p.Leu276Leu synonymous ALOX12B 1 81752 1.22321E-5 40876 0 NA
17-7983189-G-C p.Gly275Gly synonymous ALOX12B 1 81782 1.22276E-5 40891 0 NA
17-7983191-C-A p.Gly275Cys missense ALOX12B 1 81780 1.22279E-5 40890 0 1.77806E-5
17-7983207-G-A p.Leu269Leu synonymous ALOX12B 1 81654 1.22468E-5 40827 0 NA
17-7983233-C-T p.Asp261Asn missense ALOX12B 1 81372 1.22892E-5 40686 0 NA
17-7983239-C-T p.Ala259Thr missense ALOX12B 1 81244 1.23086E-5 40622 0 0.00251762
17-7983250-G-A p.Ala255Val missense ALOX12B 1 81122 1.23271E-5 40561 0 8.17768E-6
17-7983261-TGCGAGGACGGC-T c.755-13_755-3delGCCGTCCTCGC splice_region ALOX12B 1 81030 1.23411E-5 40515 0 2.30585E-5
17-7983263-C-A c.755-4G>T splice_region ALOX12B 3 80952 3.7059E-5 40476 0 2.37299E-5
17-7983263-C-G c.755-4G>C splice_region ALOX12B 5 80952 6.1765E-5 40476 0 6.25E-4
17-7983554-G-A p.Ser251Ser splice_region+synonymous ALOX12B 1 83154 1.20259E-5 41577 0 3.18837E-5
17-7983562-C-A p.Val249Phe missense ALOX12B 2 83188 2.40419E-5 41594 0 NA
17-7983575-A-G p.Pro244Pro synonymous ALOX12B 1 83270 1.20091E-5 41635 0 NA
17-7983578-G-A p.Phe243Phe synonymous ALOX12B 3 83274 3.60256E-5 41637 0 3.18674E-5
17-7983590-A-G p.Ile239Ile synonymous ALOX12B 1 83314 1.20028E-5 41657 0 3.9769E-6
17-7983592-T-C p.Ile239Val missense ALOX12B 19 83316 2.28047E-4 41658 0 0.00100705
17-7983593-G-A p.Asp238Asp synonymous ALOX12B 2 83322 2.40033E-5 41661 0 NA
17-7983605-C-G p.Lys234Asn missense ALOX12B 1 83330 1.20005E-5 41665 0 1.19301E-5
17-7983632-G-A p.Gly225Gly synonymous ALOX12B 1 83320 1.20019E-5 41660 0 NA
17-7983643-T-C p.Lys222Glu missense ALOX12B 1 83308 1.20036E-5 41654 0 8.25627E-6
17-7983652-G-T p.Leu219Met missense ALOX12B 1 83300 1.20048E-5 41650 0 NA
17-7983660-G-A c.651-4C>T splice_region ALOX12B 3 83276 3.60248E-5 41638 0 8.2661E-6
17-7983969-G-C c.650+7C>G splice_region ALOX12B 29983 82554 0.363193 41277 5782 0.424178
17-7983989-G-C p.Arg213Gly missense ALOX12B 1 83138 1.20282E-5 41569 0 NA
17-7983992-C-T p.Val212Ile missense ALOX12B 1 83156 1.20256E-5 41578 0 1.64791E-5
17-7983992-CGAA-C p.Phe211del conservative_inframe_deletion ALOX12B 1 83156 1.20256E-5 41578 0 NA
17-7984020-G-A p.Tyr202Tyr synonymous ALOX12B 1 83282 1.20074E-5 41641 0 NA
17-7984021-T-C p.Tyr202Cys missense ALOX12B 1 83268 1.20094E-5 41634 0 NA
17-7984023-G-T p.Arg201Arg synonymous ALOX12B 2 83274 2.40171E-5 41637 0 1.19311E-5
17-7984024-C-T p.Arg201His missense ALOX12B 1 83266 1.20097E-5 41633 0 NA
17-7984043-A-G p.Phe195Leu missense ALOX12B 48 83320 5.76092E-4 41660 0 6.25E-4
17-7984049-T-G p.Thr193Pro missense ALOX12B 1 83320 1.20019E-5 41660 0 NA
17-7984065-G-A p.Leu187Leu synonymous ALOX12B 6 83320 7.20115E-5 41660 0 1.64772E-4
17-7984070-T-A p.Ile186Phe missense ALOX12B 3 83324 3.6004E-5 41662 0 NA
17-7984085-T-C p.Ile181Val missense ALOX12B 2 83300 2.40096E-5 41650 0 NA
17-7984091-C-T p.Gly179Ser missense ALOX12B 6 83292 7.20357E-5 41646 0 4.9456E-5
17-7984094-T-C p.Asn178Asp missense ALOX12B 1 83274 1.20085E-5 41637 0 1.6487E-5
17-7984095-C-A p.Trp177Cys missense ALOX12B 1 83268 1.20094E-5 41634 0 NA
17-7984106-G-A c.528-8C>T splice_region ALOX12B 95 83250 0.00114114 41625 1 0.00375
17-7984195-T-G c.527+7A>C splice_region ALOX12B 3 82866 3.6203E-5 41433 0 NA
17-7984196-C-A c.527+6G>T splice_region ALOX12B 2 82858 2.41377E-5 41429 0 3.19203E-5
17-7984199-T-C c.527+3A>G splice_region ALOX12B 1 82856 1.20691E-5 41428 0 NA
17-7984201-C-A c.527+1G>T splice_donor ALOX12B 3 82860 3.62056E-5 41430 0 3.98175E-6
17-7984203-C-T p.Glu176Lys missense+splice_region ALOX12B 58 82862 6.99959E-4 41431 0 0.001875
17-7984203-C-G p.Glu176Gln missense+splice_region ALOX12B 1 82862 1.20683E-5 41431 0 1.19455E-5
17-7984208-C-G p.Arg174Pro missense ALOX12B 5 82816 6.03748E-5 41408 0 3.19081E-5
17-7984208-C-T p.Arg174Gln missense ALOX12B 3 82816 3.62249E-5 41408 0 3.98197E-6
17-7984209-G-T p.Arg174Arg synonymous ALOX12B 1 82838 1.20718E-5 41419 0 NA
17-7984210-G-A p.Asn173Asn synonymous ALOX12B 1 82862 1.20683E-5 41431 0 8.27061E-6
17-7984215-G-T p.Pro172Thr missense ALOX12B 7 82898 8.44411E-5 41449 0 6.25E-4
17-7984216-G-A p.Asn171Asn synonymous ALOX12B 3 82888 3.61934E-5 41444 0 7.96261E-6
17-7984230-G-A p.Arg167Trp missense ALOX12B 2 82910 2.41225E-5 41455 0 NA
17-7984230-G-C p.Arg167Gly missense ALOX12B 1 82910 1.20613E-5 41455 0 NA
17-7984232-A-C p.Val166Gly missense ALOX12B 1 82894 1.20636E-5 41447 0 7.96229E-6
17-7984234-C-T p.Pro165Pro synonymous ALOX12B 1 82890 1.20642E-5 41445 0 NA
17-7984241-C-A p.Arg163Leu missense ALOX12B 1 82988 1.20499E-5 41494 0 NA
17-7984247-CTG-C p.Ser161fs frameshift ALOX12B 1 83026 1.20444E-5 41513 0 NA
17-7984250-G-A p.Pro160Leu missense ALOX12B 1 83056 1.20401E-5 41528 0 3.98042E-6
17-7984253-A-G p.Ile159Thr missense ALOX12B 1 83052 1.20406E-5 41526 0 NA
17-7984420-T-G c.434+4A>C splice_region ALOX12B 1 81506 1.2269E-5 40753 0 NA
17-7984425-G-A p.His145Tyr missense+splice_region ALOX12B 1 81734 1.22348E-5 40867 0 3.19142E-5
17-7984449-TCTC-T p.Glu136del conservative_inframe_deletion ALOX12B 1 82678 1.20951E-5 41339 0 3.1901E-5
17-7984453-C-T p.Glu135Glu synonymous ALOX12B 3 82740 3.62582E-5 41370 0 3.18817E-5
17-7984462-G-A p.His132His synonymous ALOX12B 1 82794 1.20782E-5 41397 0 NA
17-7984467-C-G p.Glu131Gln missense ALOX12B 1 82848 1.20703E-5 41424 0 1.19509E-5
17-7984478-GG-AA p.Pro127Phe missense ALOX12B 1 82934 1.20578E-5 41467 0 NA
17-7984478-G-A p.Pro127Leu missense ALOX12B 10 82934 1.20578E-4 41467 0 3.57107E-4
17-7984479-G-A p.Pro127Ser missense ALOX12B 2100 82850 0.025347 41425 48 0.0533736
17-7984484-G-A p.Ser125Leu missense ALOX12B 2 82924 2.41185E-5 41462 0 NA
17-7984485-A-C p.Ser125Ala missense ALOX12B 1 82926 1.20589E-5 41463 0 NA
17-7984488-C-A p.Asp124Tyr missense ALOX12B 1 82954 1.20549E-5 41477 0 NA
17-7984489-A-G p.Asp123Asp synonymous ALOX12B 1 82940 1.20569E-5 41470 0 NA
17-7984493-G-T p.Ala122Glu missense ALOX12B 1 82936 1.20575E-5 41468 0 NA
17-7984495-T-C p.Thr121Thr synonymous ALOX12B 1 82916 1.20604E-5 41458 0 3.98349E-6
17-7984512-G-A c.353-7C>T splice_region ALOX12B 1 82746 1.20852E-5 41373 0 3.18878E-5
17-7989341-C-A p.Glu115Asp missense ALOX12B 1 82956 1.20546E-5 41478 0 3.97915E-6
17-7989345-C-T p.Arg114Gln missense ALOX12B 2 82974 2.41039E-5 41487 0 8.26624E-6
17-7989346-G-A p.Arg114Trp missense ALOX12B 1 83000 1.20482E-5 41500 0 0.00125
17-7989349-G-A p.Leu113Phe missense ALOX12B 1 83018 1.20456E-5 41509 0 3.18756E-5
17-7989361-C-G p.Glu109Gln missense ALOX12B 5 83046 6.02076E-5 41523 0 1.59122E-5
17-7989361-C-T p.Glu109Lys missense ALOX12B 2 83046 2.4083E-5 41523 0 5.78369E-5
17-7989362-G-A p.Tyr108Tyr synonymous ALOX12B 60 83040 7.22543E-4 41520 0 0.00216892
17-7989363-T-C p.Tyr108Cys missense ALOX12B 1 83060 1.20395E-5 41530 0 8.26228E-6
17-7989385-C-T p.Ala101Thr missense ALOX12B 5 83088 6.01772E-5 41544 0 0.00151362
17-7989386-G-A p.Pro100Pro synonymous ALOX12B 4 83106 4.81313E-5 41553 0 2.3866E-5
17-7989388-G-A p.Pro100Ser missense ALOX12B 1 83106 1.20328E-5 41553 0 NA
17-7989393-T-C p.His98Arg missense ALOX12B 1 83076 1.20372E-5 41538 0 9.58099E-5
17-7989399-A-G p.Ile96Thr missense ALOX12B 4 83098 4.81359E-5 41549 0 4.95679E-5
17-7989402-C-T p.Arg95His missense ALOX12B 6 83084 7.22161E-5 41542 0 1.27535E-4
17-7989402-C-G p.Arg95Pro missense ALOX12B 1 83084 1.2036E-5 41542 0 1.65232E-5
17-7989403-G-A p.Arg95Cys missense ALOX12B 1 83078 1.20369E-5 41539 0 4.13093E-5
17-7989406-C-T p.Gly94Ser missense ALOX12B 324 83060 0.00390079 41530 5 0.0088346
17-7989407-G-A p.Asn93Asn synonymous ALOX12B 1 83094 1.20346E-5 41547 0 2.38696E-5
17-7989414-G-A p.Ala91Val missense ALOX12B 1 83088 1.20354E-5 41544 0 NA
17-7989417-C-T p.Cys90Tyr missense ALOX12B 1 83114 1.20317E-5 41557 0 8.2631E-6
17-7989420-A-T p.Ile89Asn missense ALOX12B 1 83114 1.20317E-5 41557 0 8.26296E-6
17-7989427-C-T p.Val87Met missense ALOX12B 1 83104 1.20331E-5 41552 0 8.26446E-6
17-7989429-T-C p.Tyr86Cys missense ALOX12B 1 83092 1.20349E-5 41546 0 NA
17-7989432-T-C p.Asn85Ser missense ALOX12B 1 83094 1.20346E-5 41547 0 NA
17-7989443-AG-A p.Pro81fs frameshift ALOX12B 2 83106 2.40657E-5 41553 0 3.18735E-5
17-7989450-T-C p.Lys79Arg missense ALOX12B 1 83064 1.20389E-5 41532 0 NA
17-7989453-G-A p.Pro78Leu missense ALOX12B 1 83072 1.20378E-5 41536 0 3.97899E-6
17-7989464-G-A p.Tyr74Tyr synonymous ALOX12B 60 83010 7.22804E-4 41505 2 0.00233189
17-7989473-T-C p.Lys71Lys synonymous ALOX12B 2 82990 2.40993E-5 41495 0 NA
17-7989483-C-T p.Arg68His missense ALOX12B 13 82898 1.56819E-4 41449 0 2.38827E-5
17-7989484-G-A p.Arg68Cys missense ALOX12B 3 82914 3.61821E-5 41457 0 4.97834E-5
17-7989484-G-T p.Arg68Ser missense ALOX12B 1 82914 1.20607E-5 41457 0 NA
17-7989486-A-G p.Ile67Thr missense ALOX12B 2 82906 2.41237E-5 41453 0 3.18878E-5
17-7989490-T-C p.Ile66Val missense ALOX12B 1 82866 1.20677E-5 41433 0 3.19101E-5
17-7989492-A-G p.Ile65Thr missense ALOX12B 16 82828 1.93171E-4 41414 0 5.04032E-4
17-7989494-G-A p.Leu64Leu synonymous ALOX12B 2 82810 2.41517E-5 41405 0 4.1551E-5
17-7989519-T-C p.Gln56Arg missense ALOX12B 1 82380 1.21389E-5 41190 0 1.59507E-5
17-7989523-C-T p.Val55Met missense ALOX12B 3 82194 3.6499E-5 41097 0 6.38325E-5
17-7989524-G-A p.Thr54Thr synonymous ALOX12B 29 82132 3.5309E-4 41066 0 5.74419E-4
17-7990606-A-G c.147+8T>C splice_region ALOX12B 4 82622 4.84133E-5 41311 0 9.82833E-5
17-7990614-C-T p.Ala49Ala splice_region+synonymous ALOX12B 1 82808 1.20761E-5 41404 0 1.64965E-5
17-7990615-G-A p.Ala49Val missense+splice_region ALOX12B 1 82702 1.20916E-5 41351 0 2.4768E-5
17-7990616-C-T p.Ala49Thr missense+splice_region ALOX12B 1 82874 1.20665E-5 41437 0 3.98096E-6
17-7990617-C-T p.Gly48Gly synonymous ALOX12B 39 82930 4.70276E-4 41465 1 3.06316E-4
17-7990620-A-C p.Thr47Thr synonymous ALOX12B 1 82976 1.20517E-5 41488 0 NA
17-7990624-G-A p.Ala46Val missense ALOX12B 2 83018 2.40912E-5 41509 1 NA
17-7990626-A-G p.Phe45Phe synonymous ALOX12B 213 83054 0.0025646 41527 1 0.00230326
17-7990652-G-A p.Leu37Leu synonymous ALOX12B 1 83258 1.20109E-5 41629 0 NA
17-7990660-T-C p.His34Arg missense ALOX12B 2 83262 2.40206E-5 41631 0 6.36983E-5
17-7990665-C-G p.Glu32Asp missense ALOX12B 1 83270 1.20091E-5 41635 0 1.64739E-5
17-7990685-T-C p.Ile26Val missense ALOX12B 1 83294 1.20057E-5 41647 0 NA
17-7990690-A-G p.Leu24Pro missense ALOX12B 1 83298 1.20051E-5 41649 0 2.38576E-5
17-7990705-C-T p.Arg19Gln missense ALOX12B 7 83274 8.40599E-5 41637 0 5.03525E-4
17-7990706-G-A p.Arg19Trp missense ALOX12B 1 83282 1.20074E-5 41641 0 6.36983E-5
17-7990706-G-C p.Arg19Gly missense ALOX12B 2 83282 2.40148E-5 41641 0 NA
17-7990719-G-A p.Leu14Leu synonymous ALOX12B 1575 83212 0.0189276 41606 93 0.040282
17-7990722-G-A p.Asp13Asp synonymous ALOX12B 3 83220 3.6049E-5 41610 0 7.55509E-5
17-7990724-C-T p.Asp13Asn missense ALOX12B 2 83210 2.40356E-5 41605 0 6.25E-4
17-7990725-G-A p.Thr12Thr synonymous ALOX12B 2 83214 2.40344E-5 41607 0 1.5906E-5
17-7990726-G-A p.Thr12Ile missense ALOX12B 1 83200 1.20192E-5 41600 0 NA
17-7990805-G-A c.-45C>T 5_prime_UTR_premature_start_codon_gain ALOX12B 1 82084 1.21826E-5 41042 0 9.1801E-5
17-7990820-G-A c.-60C>T 5_prime_UTR_premature_start_codon_gain ALOX12B 13 81062 1.60371E-4 40531 0 6.27353E-4
17-7990820-G-C c.-60C>G 5_prime_UTR_premature_start_codon_gain ALOX12B 2 81062 2.46725E-5 40531 0 6.36821E-5
17-7990837-A-C c.-77T>G 5_prime_UTR_premature_start_codon_gain ALOX12B 3 79700 3.76412E-5 39850 0 3.18431E-5
17-7990852-C-G c.-92G>C 5_prime_UTR_premature_start_codon_gain ALOX12B 1 77694 1.2871E-5 38847 0 NA
17-7990880-G-A c.-120C>T 5_prime_UTR_premature_start_codon_gain ALOX12B 1 71044 1.40758E-5 35522 0 3.18593E-5
17-7990901-G-A c.-141C>T 5_prime_UTR_premature_start_codon_gain ALOX12B 21 63024 3.33206E-4 31512 0 0.00136969
17-7990927-C-A c.-167G>T 5_prime_UTR_premature_start_codon_gain ALOX12B 1 53316 1.87561E-5 26658 0 3.18613E-5
17-7990929-A-T c.-169T>A 5_prime_UTR_premature_start_codon_gain ALOX12B 2 52620 3.80084E-5 26310 0 NA
17-7990960-G-A c.-200C>T 5_prime_UTR_premature_start_codon_gain ALOX12B 1 39212 2.55024E-5 19606 0 1.27421E-4
17-7990972-G-A c.-212C>T 5_prime_UTR_premature_start_codon_gain ALOX12B 2 35028 5.70972E-5 17514 0 6.37389E-5
17-7990986-G-A c.-226C>T 5_prime_UTR_premature_start_codon_gain ALOX12B 1 31614 3.16316E-5 15807 0 3.18674E-5