Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-43902423-C-T c.-377C>T 5_prime_UTR_premature_start_codon_gain ALKBH3 152 2956 0.0514208 1478 3 0.0665092
11-43902729-G-GATACCATGGA c.-71_-71+1insATACCATGGA splice_donor ALKBH3 2 1300 0.00153846 650 0 NA
11-43902729-G-GATACCAT c.-71_-71+1insATACCAT splice_donor ALKBH3 1 1300 7.69231E-4 650 0 NA
11-43902996-G-GATACCATGGA c.-71_-71+1insATACCATGGA splice_donor ALKBH3 2 10 0.2 5 1 NA
11-43904130-CAG-C c.-70-1_-70delGA splice_acceptor ALKBH3 9 82160 1.09542E-4 41080 0 2.22987E-4
11-43904138-A-T c.-65A>T 5_prime_UTR_premature_start_codon_gain ALKBH3 1 82628 1.21024E-5 41314 0 NA
11-43904148-T-A c.-55T>A 5_prime_UTR_premature_start_codon_gain ALKBH3 6 82888 7.23868E-5 41444 0 NA
11-43904169-C-G c.-34C>G 5_prime_UTR_premature_start_codon_gain ALKBH3 1 83148 1.20267E-5 41574 0 NA
11-43904209-G-GA p.Arg5fs frameshift ALKBH3 1 83302 1.20045E-5 41651 0 3.20793E-5
11-43904216-G-C p.Arg5Thr missense ALKBH3 8 83300 9.60384E-5 41650 0 1.27389E-4
11-43904219-G-A p.Arg6Gln missense ALKBH3 1 83280 1.20077E-5 41640 0 8.33542E-6
11-43904221-C-T p.Arg7* stop_gained ALKBH3 8 83276 9.60661E-5 41638 0 9.55292E-5
11-43904227-C-T p.Arg9* stop_gained ALKBH3 1 83270 1.20091E-5 41635 0 NA
11-43904245-G-A p.Ala15Thr missense ALKBH3 1 83182 1.20218E-5 41591 0 3.99214E-6
11-43904248-G-C p.Ala16Pro missense ALKBH3 1 83154 1.20259E-5 41577 0 NA
11-43904251-C-T p.Pro17Ser missense ALKBH3 1 83150 1.20265E-5 41575 0 NA
11-43904262-C-T p.Ser20Ser synonymous ALKBH3 1 83064 1.20389E-5 41532 0 3.18471E-5
11-43904279-C-T p.Pro26Leu missense+splice_region ALKBH3 2 82848 2.41406E-5 41424 0 NA
11-43904281-G-C p.Ala27Pro missense+splice_region ALKBH3 1 82828 1.20732E-5 41414 0 1.69673E-5
11-43904281-G-A p.Ala27Thr missense+splice_region ALKBH3 3 82826 3.62205E-5 41413 0 0.00101112
11-43904281-G-GCTACCACT c.79_79+1insCTACCACT splice_donor ALKBH3 3 82828 3.62196E-5 41414 1 NA
11-43904285-A-G c.79+4A>G splice_region ALKBH3 1 82748 1.20849E-5 41374 0 8.51687E-6
11-43904286-G-A c.79+5G>A splice_region ALKBH3 13 82748 1.57103E-4 41374 0 2.47259E-4
11-43904627-T-G c.80-8T>G splice_region ALKBH3 1 82886 1.20648E-5 41443 0 NA
11-43904636-T-G p.Ala27Ala splice_region+synonymous ALKBH3 5 83014 6.02308E-5 41507 0 6.37146E-5
11-43904637-A-T p.Thr28Ser missense+splice_region ALKBH3 1 83024 1.20447E-5 41512 0 9.55597E-5
11-43904640-A-T p.Thr29Ser missense ALKBH3 1 83080 1.20366E-5 41540 0 1.70294E-5
11-43904647-A-G p.Lys31Arg missense ALKBH3 1 83148 1.20267E-5 41574 0 NA
11-43904657-C-G p.Leu34Leu synonymous ALKBH3 1 83186 1.20213E-5 41593 0 8.45723E-6
11-43904663-G-T p.Gln36His missense ALKBH3 3 83206 3.60551E-5 41603 0 NA
11-43904670-G-T p.Gly39Cys missense ALKBH3 87 83216 0.00104547 41608 0 0.00216588
11-43904672-C-T p.Gly39Gly synonymous ALKBH3 12 83216 1.44203E-4 41608 0 1.27397E-4
11-43904677-C-T p.Thr41Ile missense ALKBH3 2 83224 2.40315E-5 41612 0 NA
11-43904686-A-T p.Asn44Ile missense ALKBH3 1 83222 1.20161E-5 41611 0 NA
11-43904691-G-C p.Glu46Gln missense ALKBH3 82 83224 9.85293E-4 41612 1 0.00856855
11-43904693-GCATCATCTC-G p.His47_Leu49del conservative_inframe_deletion ALKBH3 1 83234 1.20143E-5 41617 0 8.57148E-6
11-43904700-C-T p.Leu49Phe missense ALKBH3 2 83232 2.40292E-5 41616 0 1.73801E-5
11-43904702-C-G p.Leu49Leu synonymous ALKBH3 2 83222 2.40321E-5 41611 0 6.37262E-5
11-43904704-C-T p.Ser50Phe missense ALKBH3 1 83226 1.20155E-5 41613 0 8.77008E-6
11-43904730-C-A p.Pro59Thr missense ALKBH3 2 83086 2.40714E-5 41543 0 1.00335E-5
11-43904739-G-A c.183+1G>A splice_donor ALKBH3 2 82910 2.41225E-5 41455 0 NA
11-43904741-A-AGT c.183+3_183+4insGT splice_region ALKBH3 1 82878 1.20659E-5 41439 0 NA
11-43904741-A-AGTACGTAGAGCTCCTGAGCCACGAGTGATTGACAGAGAGGGTGTGTATG c.183+3_183+4insGTACGTAGAGCTCCTGAGCCACGAGTGATTGACAGAGAGGGTGTGTATG splice_region ALKBH3 2 82878 2.41319E-5 41439 1 NA
11-43904746-C-G c.183+8C>G splice_region ALKBH3 36 82840 4.34573E-4 41420 0 3.33206E-4
11-43905530-C-T c.184-3C>T splice_region ALKBH3 2 83278 2.40159E-5 41639 0 3.98556E-5
11-43905536-G-C p.Val63Leu missense ALKBH3 7 83274 8.40599E-5 41637 0 5.57449E-5
11-43905540-G-A p.Arg64His missense ALKBH3 2 83266 2.40194E-5 41633 0 3.18431E-5
11-43905540-G-C p.Arg64Pro missense ALKBH3 1 83266 1.20097E-5 41633 0 NA
11-43905548-C-G p.Pro67Ala missense ALKBH3 1 83294 1.20057E-5 41647 0 NA
11-43905557-C-T p.Arg70* stop_gained ALKBH3 80 83276 9.60661E-4 41638 0 0.00130963
11-43905558-G-A p.Arg70Gln missense ALKBH3 1 83282 1.20074E-5 41641 0 3.29473E-5
11-43905562-G-A p.Val71Val synonymous ALKBH3 1 83282 1.20074E-5 41641 0 8.23669E-6
11-43905563-A-G p.Ile72Val missense ALKBH3 5 83276 6.00413E-5 41638 0 1.59215E-4
11-43905568-G-A c.218+1G>A splice_donor ALKBH3 1 83240 1.20135E-5 41620 0 3.98092E-6
11-43905572-G-C c.218+5G>C splice_region ALKBH3 1 83224 1.20158E-5 41612 0 4.77715E-5
11-43908151-T-C c.219-5T>C splice_region ALKBH3 4 82938 4.82288E-5 41469 0 4.37623E-5
11-43908155-G-A c.219-1G>A splice_acceptor ALKBH3 1 82960 1.2054E-5 41480 0 NA
11-43908160-G-C p.Glu74Gln missense+splice_region ALKBH3 3 83000 3.61446E-5 41500 0 7.95539E-6
11-43908171-T-G p.Tyr78* stop_gained ALKBH3 2 83004 2.40952E-5 41502 0 NA
11-43908176-T-G p.Ile80Ser missense ALKBH3 2 82992 2.40987E-5 41496 0 1.98881E-5
11-43908179-G-C p.Ser81Thr missense ALKBH3 4 83010 4.8187E-5 41505 0 8.2394E-6
11-43908179-G-A p.Ser81Asn missense ALKBH3 1 83010 1.20467E-5 41505 0 NA
11-43908187-C-T p.Pro84Ser missense ALKBH3 1 83002 1.20479E-5 41501 0 3.9775E-6
11-43908190-A-C p.Thr85Pro missense ALKBH3 1 83004 1.20476E-5 41502 0 6.37146E-5
11-43908202-A-AG p.Val87fs frameshift ALKBH3 1 82944 1.20563E-5 41472 0 NA
11-43908204-G-A c.266+1G>A splice_donor ALKBH3 2 82940 2.41138E-5 41470 0 8.24022E-6
11-43911267-G-C c.267-8G>C splice_region ALKBH3 17 82986 2.04854E-4 41493 0 3.8236E-4
11-43911291-G-C p.Gly95Arg missense ALKBH3 1 83184 1.20215E-5 41592 0 8.75079E-5
11-43911298-T-C p.Val97Ala missense ALKBH3 1 83212 1.20175E-5 41606 0 3.18431E-5
11-43911302-C-T p.Asp98Asp synonymous ALKBH3 2 83194 2.40402E-5 41597 0 1.1932E-5
11-43911303-G-A p.Val99Met missense ALKBH3 2 83188 2.40419E-5 41594 0 3.18532E-5
11-43911365-T-C p.Leu18Pro missense ALKBH3 80684 80786 0.998737 40393 40294 1.0
11-43911366-G-A p.Gly120Ser missense ALKBH3 3 82676 3.62862E-5 41338 0 1.64902E-5
11-43911371-CAG-C p.Glu123fs frameshift ALKBH3 40 82588 4.84332E-4 41294 0 2.34897E-4
11-43911377-G-GGATATAACTTATCAGCAACCAAGACTTACAGCAT p.Trp135fs frameshift ALKBH3 1 82474 1.2125E-5 41237 0 NA
11-43913583-T-C c.371-8T>C splice_region ALKBH3 1 82344 1.21442E-5 41172 0 2.392E-5
11-43913585-T-C c.371-6T>C splice_region ALKBH3 1 82358 1.21421E-5 41179 0 6.36862E-5
11-43913598-T-C p.Thr126Thr synonymous ALKBH3 15 82634 1.81523E-4 41317 0 5.03525E-4
11-43913601-T-G p.Tyr127* stop_gained ALKBH3 2 82650 2.41984E-5 41325 0 1.66033E-5
11-43913604-G-A p.Gln128Gln synonymous ALKBH3 4158 82502 0.0503988 41251 221 0.0668666
11-43913609-C-T p.Pro130Leu missense ALKBH3 2 82712 2.41803E-5 41356 0 1.59189E-5
11-43913619-A-G p.Thr133Thr synonymous ALKBH3 1 82774 1.20811E-5 41387 0 NA
11-43913622-A-G p.Ala134Ala synonymous ALKBH3 2 82774 2.41622E-5 41387 0 NA
11-43913625-G-A p.Trp135* stop_gained ALKBH3 4 82788 4.83162E-5 41394 0 6.60666E-5
11-43913626-T-C p.Tyr136His missense ALKBH3 2 82808 2.41523E-5 41404 0 8.25791E-6
11-43913641-T-C p.Tyr141His missense ALKBH3 6 82788 7.24743E-5 41394 0 8.25696E-5
11-43913643-C-A p.Tyr141* stop_gained ALKBH3 2 82780 2.41604E-5 41390 0 NA
11-43913646-T-C p.Thr142Thr synonymous ALKBH3 1 82768 1.2082E-5 41384 0 NA
11-43913653-AGAATCACTATG-A p.Ile146fs frameshift ALKBH3 6 82722 7.25321E-5 41361 0 8.26064E-5
11-43913653-A-G p.Arg145Gly missense ALKBH3 1 82724 1.20884E-5 41362 0 3.97864E-6
11-43913655-A-G p.Arg145Arg synonymous ALKBH3 1 82710 1.20904E-5 41355 0 NA
11-43913662-A-G p.Met148Val missense ALKBH3 4 82616 4.84168E-5 41308 1 1.6542E-5
11-43913664-G-A p.Met148Ile missense ALKBH3 1 82628 1.21024E-5 41314 0 3.18512E-5
11-43913677-C-G p.His153Asp missense+splice_region ALKBH3 61 82486 7.39519E-4 41243 0 0.00171953
11-43913679-C-CTGGCACCCTGTGCTGCGCACACTAAAGAACCGCATTGAAGA c.459_459+1insTGGCACCCTGTGCTGCGCACACTAAAGAACCGCATTGAAGA splice_donor ALKBH3 1 82386 1.2138E-5 41193 0 NA
11-43918750-A-G p.Ile125Val missense ALKBH3 1 54870 1.82249E-5 27435 0 3.72453E-5
11-43918752-A-G p.Ile125Met missense ALKBH3 1 54886 1.82196E-5 27443 0 NA
11-43918758-A-G p.Gln127Gln synonymous ALKBH3 1 55004 1.81805E-5 27502 0 9.55657E-5
11-43918759-C-G p.Leu128Val missense ALKBH3 1 55008 1.81792E-5 27504 0 4.3256E-6
11-43918775-C-T p.Ser133Leu missense ALKBH3 1 55270 1.8093E-5 27635 0 NA
11-43918776-A-G p.Ser133Ser synonymous ALKBH3 2 55288 3.61742E-5 27644 0 8.89015E-6
11-43918781-C-A p.Pro135His missense ALKBH3 1 55320 1.80766E-5 27660 0 NA
11-43918794-C-T p.Thr139Thr synonymous ALKBH3 4 55434 7.21579E-5 27717 0 3.18431E-5
11-43918795-G-A p.Ala140Thr missense ALKBH3 7 55434 1.26276E-4 27717 0 6.36943E-5
11-43918796-C-T p.Ala140Val missense ALKBH3 11 55442 1.98406E-4 27721 0 4.77677E-4
11-43918797-G-A p.Ala140Ala synonymous ALKBH3 1 55456 1.80323E-5 27728 0 6.36902E-5
11-43918805-C-T p.Pro143Leu missense ALKBH3 2 55510 3.60295E-5 27755 0 5.31387E-5
11-43918806-G-A p.Pro143Pro synonymous ALKBH3 824 55500 0.0148468 27750 6 0.0125
11-43918825-C-T p.Arg150Cys missense ALKBH3 3 55620 5.39374E-5 27810 0 2.2293E-4
11-43918826-G-A p.Arg150His missense ALKBH3 1 55630 1.79759E-5 27815 0 1.76903E-5
11-43918829-C-T p.Pro151Leu missense ALKBH3 30 55670 5.3889E-4 27835 1 0.00143285
11-43918832-C-T p.Ser152Leu missense ALKBH3 1 55708 1.79507E-5 27854 0 6.25E-4
11-43918833-G-A p.Ser152Ser synonymous ALKBH3 1 55710 1.79501E-5 27855 0 6.1879E-5
11-43918841-A-G p.His155Arg missense ALKBH3 1 55764 1.79327E-5 27882 0 8.83502E-6
11-43918842-C-T p.His155His synonymous ALKBH3 1 55776 1.79289E-5 27888 0 8.83455E-6
11-43918843-A-G p.Ile156Val missense ALKBH3 1 55762 1.79334E-5 27881 0 NA
11-43918854-A-G p.Pro159Pro synonymous ALKBH3 2 55840 3.58166E-5 27920 0 NA
11-43918858-A-T p.Ile161Phe missense ALKBH3 2 55856 3.58064E-5 27928 0 NA
11-43918870-A-G p.Thr165Ala missense ALKBH3 1 55982 1.78629E-5 27991 0 NA
11-43918879-T-C p.Trp168Arg missense ALKBH3 1 56052 1.78406E-5 28026 0 NA
11-43918885-C-T p.Pro170Ser missense ALKBH3 1 56098 1.78259E-5 28049 0 8.80561E-6
11-43918905-G-C c.*14+1G>C splice_donor ALKBH3 1 56278 1.77689E-5 28139 0 NA
11-43918912-T-A c.*14+8T>A splice_region ALKBH3 1 56324 1.77544E-5 28162 0 NA
11-43919169-T-G n.443-7T>G splice_region ALKBH3 4 59914 6.67624E-5 29957 0 0.00203822
11-43919177-C-T n.444C>T splice_region ALKBH3 1 59894 1.66962E-5 29947 0 NA
11-43919178-G-A n.445G>A splice_region ALKBH3 4 59900 6.6778E-5 29950 0 6.37024E-5
11-43923061-T-C c.460-5T>C splice_region ALKBH3 1 82528 1.21171E-5 41264 0 8.24756E-6
11-43923064-A-C c.460-2A>C splice_acceptor ALKBH3 3 82658 3.62941E-5 41329 0 6.36821E-5
11-43923066-T-G p.Trp154Gly missense+splice_region ALKBH3 1 82706 1.2091E-5 41353 0 7.96883E-6
11-43923081-C-T p.Arg159Cys missense ALKBH3 22 83048 2.64907E-4 41524 0 1.27356E-4
11-43923082-G-A p.Arg159His missense ALKBH3 4 83064 4.81556E-5 41532 0 1.27372E-4
11-43923082-G-T p.Arg159Leu missense ALKBH3 3 83064 3.61167E-5 41532 0 8.23927E-6
11-43923087-C-G p.Leu161Val missense ALKBH3 4 83180 4.80885E-5 41590 0 7.95444E-6
11-43923091-A-G p.Lys162Arg missense ALKBH3 1 83250 1.2012E-5 41625 0 NA
11-43923095-C-A p.Asn163Lys missense ALKBH3 1 83276 1.20083E-5 41638 0 8.23778E-6
11-43923096-C-T p.Arg164Cys missense ALKBH3 357 83272 0.00428716 41636 3 0.00605476
11-43923097-G-A p.Arg164His missense ALKBH3 6 83282 7.20444E-5 41641 0 6.36821E-5
11-43923097-G-T p.Arg164Leu missense ALKBH3 2 83282 2.40148E-5 41641 0 1.193E-5
11-43923110-C-T p.Asn168Asn synonymous ALKBH3 1 83354 1.1997E-5 41677 0 NA
11-43923111-A-G p.Thr169Ala missense ALKBH3 1 83350 1.19976E-5 41675 0 NA
11-43923115-G-A p.Gly170Asp missense ALKBH3 5 83356 5.99837E-5 41678 0 3.295E-5
11-43923132-T-G p.Leu176Val missense ALKBH3 2 83372 2.39889E-5 41686 0 NA
11-43923141-A-G p.Asn179Asp missense ALKBH3 2 83380 2.39866E-5 41690 0 2.47109E-5
11-43923142-A-G p.Asn179Ser missense ALKBH3 1 83384 1.19927E-5 41692 0 6.3674E-5
11-43923144-C-T p.Leu180Phe missense ALKBH3 2 83388 2.39843E-5 41694 0 1.27356E-4
11-43923150-C-T p.Arg182Cys missense ALKBH3 8 83382 9.5944E-5 41691 0 1.27364E-4
11-43923151-G-T p.Arg182Leu missense ALKBH3 3 83380 3.59799E-5 41690 0 2.47109E-5
11-43923151-G-A p.Arg182His missense ALKBH3 3 83380 3.59799E-5 41690 0 2.47109E-5
11-43923155-T-A p.Asn183Lys missense ALKBH3 1 83390 1.19918E-5 41695 0 3.9764E-6
11-43923155-T-C p.Asn183Asn synonymous ALKBH3 1 83390 1.19918E-5 41695 0 NA
11-43923160-A-G p.Lys185Arg missense ALKBH3 1 83396 1.1991E-5 41698 0 1.64737E-5
11-43923164-C-T p.Asp186Asp synonymous ALKBH3 1 83394 1.19913E-5 41697 0 NA
11-43923167-C-T p.Ser187Ser synonymous ALKBH3 4 83392 4.79662E-5 41696 1 3.97646E-5
11-43923168-G-A p.Val188Met missense ALKBH3 1 83390 1.19918E-5 41695 0 6.36821E-5
11-43923171-G-A p.Asp189Asn missense ALKBH3 43 83390 5.15649E-4 41695 0 7.64088E-4
11-43923173-CT-C p.Trp190fs frameshift ALKBH3 1 83392 1.19916E-5 41696 0 NA
11-43923181-G-A p.Ser192Asn missense ALKBH3 5 83390 5.99592E-5 41695 0 1.98817E-5
11-43923185-T-C p.Asp193Asp synonymous ALKBH3 1 83390 1.19918E-5 41695 0 NA
11-43923189-G-A p.Glu195Lys missense ALKBH3 3 83388 3.59764E-5 41694 0 3.18512E-5
11-43923202-G-C p.Gly199Ala missense ALKBH3 1 83372 1.19944E-5 41686 0 6.36659E-5
11-43923203-G-C p.Gly199Gly synonymous ALKBH3 3 83380 3.59799E-5 41690 0 3.97636E-6
11-43923208-G-A p.Cys201Tyr missense ALKBH3 1 83370 1.19947E-5 41685 0 NA
11-43923220-C-T p.Ala205Val missense ALKBH3 1 83362 1.19959E-5 41681 0 NA
11-43923231-T-C p.Phe209Leu missense ALKBH3 1 83346 1.19982E-5 41673 0 NA
11-43923237-G-A p.Ala211Thr missense ALKBH3 1 83340 1.1999E-5 41670 0 NA
11-43923243-C-T p.Arg213Cys missense ALKBH3 4 83328 4.80031E-5 41664 0 3.50229E-4
11-43923244-G-A p.Arg213His missense ALKBH3 4 83328 4.80031E-5 41664 0 1.59175E-4
11-43923246-A-C p.Thr214Pro missense ALKBH3 2 83332 2.40004E-5 41666 0 6.3674E-5
11-43923248-A-G p.Thr214Thr synonymous ALKBH3 1 83322 1.20016E-5 41661 0 8.23886E-6
11-43923256-T-C p.Met217Thr missense ALKBH3 2 83294 2.40113E-5 41647 0 3.97703E-6
11-43923269-A-C p.Pro221Pro synonymous ALKBH3 2 83234 2.40286E-5 41617 0 NA
11-43923276-G-GAAGAGAA c.669+1_669+2insAAGAGAA splice_donor ALKBH3 1 83196 1.20198E-5 41598 0 NA
11-43940595-A-G p.Asn226Ser missense ALKBH3 141 81972 0.0017201 40986 0 0.00233961
11-43940602-C-G p.Asp228Glu missense ALKBH3 16715 81526 0.205027 40763 1923 0.198458
11-43940608-A-G p.Thr230Thr synonymous ALKBH3 2 82224 2.43238E-5 41112 0 1.64742E-5
11-43940614-G-A p.Val232Val synonymous ALKBH3 1 82356 1.21424E-5 41178 0 3.97915E-6
11-43940623-GAAGAT-G p.Lys236fs frameshift ALKBH3 1 82442 1.21297E-5 41221 0 NA
11-43940629-A-T p.Ile237Ile synonymous ALKBH3 1 82436 1.21306E-5 41218 0 NA
11-43940640-A-C p.His241Pro missense ALKBH3 3 82442 3.63892E-5 41221 0 3.97842E-6
11-43940641-T-C p.His241His synonymous ALKBH3 1 82444 1.21294E-5 41222 0 1.64734E-5
11-43940644-G-T p.Gly242Gly synonymous ALKBH3 49560 81730 0.606387 40865 15521 0.6775
11-43940647-C-G p.Thr243Thr synonymous ALKBH3 1 82450 1.21286E-5 41225 0 NA
11-43940667-C-T p.Ala250Val missense ALKBH3 1 82398 1.21362E-5 41199 0 1.19422E-5
11-43940683-G-A p.Trp255* stop_gained ALKBH3 2 82194 2.43327E-5 41097 0 9.55353E-5
11-43940683-G-T p.Trp255Cys missense ALKBH3 1 82194 1.21663E-5 41097 0 NA
11-43940690-A-G c.768+4A>G splice_region ALKBH3 1 82010 1.21936E-5 41005 0 4.12052E-5
11-43941463-T-C c.769-5T>C splice_region ALKBH3 3 82984 3.61515E-5 41492 0 4.77342E-5
11-43941471-C-T p.Arg258* stop_gained ALKBH3 2 83064 2.40778E-5 41532 0 3.18431E-5
11-43941502-C-T p.Pro268Leu missense ALKBH3 4 83188 4.80839E-5 41594 0 1.27397E-4
11-43941503-G-A p.Pro268Pro synonymous ALKBH3 1 83196 1.20198E-5 41598 0 1.64861E-5
11-43941515-G-T p.Leu272Leu synonymous ALKBH3 1 83168 1.20239E-5 41584 0 NA
11-43941522-C-T p.Arg275Trp missense ALKBH3 1 83156 1.20256E-5 41578 0 3.18634E-5
11-43941523-G-A p.Arg275Gln missense ALKBH3 5 83138 6.0141E-5 41569 0 5.03525E-4
11-43941532-A-G p.Tyr278Cys missense ALKBH3 2 83126 2.40599E-5 41563 0 3.97687E-6
11-43941534-C-A p.Pro279Thr missense ALKBH3 1 83136 1.20285E-5 41568 0 8.24756E-6
11-43941538-A-C p.Asp280Ala missense ALKBH3 1 83082 1.20363E-5 41541 0 2.47455E-5
11-43941814-G-C n.680G>C splice_region ALKBH3 1 11180 8.94454E-5 5590 0 NA