Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-47287902-C-T c.-185C>T 5_prime_UTR_premature_start_codon_gain ABI3 6 28282 2.12149E-4 14141 0 6.37024E-5
17-47287974-C-T c.-113C>T 5_prime_UTR_premature_start_codon_gain ABI3 2 59424 3.36564E-5 29712 0 NA
17-47288057-C-G c.-30C>G 5_prime_UTR_premature_start_codon_gain ABI3 2 75222 2.6588E-5 37611 0 NA
17-47288091-C-T p.Ala2Val missense ABI3 2 76940 2.59943E-5 38470 0 1.88107E-5
17-47288102-C-G p.Gln6Glu missense ABI3 1 77664 1.2876E-5 38832 0 NA
17-47288106-T-C p.Leu7Pro missense ABI3 4 77876 5.13637E-5 38938 0 9.56023E-5
17-47288119-G-C p.Glu11Asp missense ABI3 2 78482 2.54836E-5 39241 0 NA
17-47288126-A-G p.Thr14Ala missense ABI3 5 78624 6.35938E-5 39312 0 6.29327E-5
17-47288132-C-T p.Arg16Trp missense ABI3 1 78578 1.27262E-5 39289 0 5.19805E-5
17-47288133-G-A p.Arg16Gln missense ABI3 2 78638 2.5433E-5 39319 0 NA
17-47288137-G-T p.Glu17Asp missense ABI3 1 78798 1.26907E-5 39399 0 6.37633E-4
17-47288152-C-T p.Asn22Asn synonymous ABI3 3 78720 3.81098E-5 39360 0 1.25005E-5
17-47288153-C-T p.His23Tyr missense ABI3 1 78700 1.27065E-5 39350 0 NA
17-47288155-C-T p.His23His synonymous ABI3 1 78654 1.27139E-5 39327 0 NA
17-47288169-G-A p.Arg28Gln missense ABI3 1 78076 1.2808E-5 39038 0 1.2433E-5
17-47288174-G-A p.Ala30Thr missense ABI3 1 77854 1.28446E-5 38927 0 NA
17-47288182-C-T p.Tyr32Tyr synonymous ABI3 1 77604 1.28859E-5 38802 0 NA
17-47288185-C-T p.Cys33Cys synonymous ABI3 4 77310 5.17397E-5 38655 0 2.98924E-4
17-47288186-G-A p.Glu34Lys missense ABI3 1 77278 1.29403E-5 38639 0 9.97407E-5
17-47288188-G-A p.Glu34Glu synonymous ABI3 1 77260 1.29433E-5 38630 0 NA
17-47288194-C-T p.Asn36Asn synonymous ABI3 2 77024 2.59659E-5 38512 0 6.22278E-6
17-47293905-C-T p.Arg44Trp missense ABI3 2 80920 2.47158E-5 40460 0 6.25E-4
17-47293906-G-A p.Arg44Gln missense ABI3 4727 80388 0.0588023 40194 263 0.114674
17-47293910-G-C p.Lys45Asn missense ABI3 1 81058 1.23368E-5 40529 0 NA
17-47293912-C-T p.Ala46Val missense ABI3 1 81022 1.23423E-5 40511 0 3.37048E-5
17-47293913-G-A p.Ala46Ala synonymous ABI3 1 81050 1.23381E-5 40525 0 1.27189E-5
17-47293929-G-A p.Ala52Thr missense ABI3 3 81148 3.69695E-5 40574 0 6.25E-4
17-47293934-C-T p.Phe53Phe synonymous ABI3 1 81154 1.23223E-5 40577 0 3.18674E-5
17-47293944-G-A p.Ala57Thr missense ABI3 1 81008 1.23445E-5 40504 0 NA
17-47293955-C-T p.Ser60Ser synonymous ABI3 1 80756 1.2383E-5 40378 0 1.23878E-5
17-47293970-G-A p.Val65Val synonymous ABI3 1 80580 1.241E-5 40290 0 1.23116E-5
17-47293982-C-T p.Ala69Ala synonymous ABI3 2 80180 2.49439E-5 40090 0 0.00151822
17-47293983-G-A p.Gly70Arg missense ABI3 2 80118 2.49632E-5 40059 0 5.0843E-5
17-47293984-G-A p.Gly70Glu missense ABI3 3 80124 3.7442E-5 40062 0 2.0291E-5
17-47293994-G-T p.Leu73Leu synonymous ABI3 1 79846 1.25241E-5 39923 0 4.10102E-6
17-47293996-G-A p.Arg74His missense ABI3 2 79696 2.50954E-5 39848 0 1.23176E-5
17-47293996-G-T p.Arg74Leu missense ABI3 1 79696 1.25477E-5 39848 0 5.08854E-5
17-47294000-G-A p.Met75Ile missense ABI3 15 79524 1.88622E-4 39762 0 2.54858E-4
17-47294016-G-C p.Ala81Pro missense ABI3 1 78376 1.2759E-5 39188 0 NA
17-47294016-G-A p.Ala81Thr missense ABI3 1 78376 1.2759E-5 39188 0 3.18532E-5
17-47294018-C-T p.Ala81Ala synonymous ABI3 2 78132 2.55977E-5 39066 0 1.94309E-4
17-47294025-C-T p.Arg84Trp missense ABI3 4 77326 5.1729E-5 38663 0 2.23015E-4
17-47294036-A-G p.Glu87Glu synonymous ABI3 489 76052 0.00642981 38026 10 0.0158093
17-47294040-C-T p.Arg89Cys missense+splice_region ABI3 4 75344 5.30898E-5 37672 0 6.3826E-5
17-47294041-G-A p.Arg89His missense+splice_region ABI3 1 75230 1.32926E-5 37615 0 8.95989E-5
17-47294046-A-G p.Ser91Gly missense ABI3 1 74802 1.33686E-5 37401 0 NA
17-47294050-C-T p.Thr92Met missense ABI3 4 73886 5.41375E-5 36943 0 1.91144E-4
17-47295104-G-A p.Val97Met missense ABI3 2 81262 2.46117E-5 40631 0 NA
17-47295111-T-C p.Met99Thr missense ABI3 1 81630 1.22504E-5 40815 0 3.30972E-5
17-47295114-A-G p.His100Arg missense ABI3 1 81786 1.2227E-5 40893 0 2.03874E-5
17-47295130-C-T p.Ala105Ala synonymous ABI3 2 82180 2.43368E-5 41090 0 3.19061E-4
17-47295131-C-T p.Arg106* stop_gained ABI3 3 82234 3.64813E-5 41117 0 8.256E-6
17-47295141-T-C p.Ile109Thr missense ABI3 1 82594 1.21074E-5 41297 0 NA
17-47295142-C-T p.Ile109Ile synonymous ABI3 3 82626 3.63082E-5 41313 0 2.01306E-5
17-47295143-G-A p.Gly110Ser missense ABI3 1 82638 1.2101E-5 41319 0 1.20816E-5
17-47295148-C-T p.Thr111Thr synonymous ABI3 7 82854 8.4486E-5 41427 0 3.17318E-4
17-47295158-G-C p.Val115Leu missense ABI3 15 82896 1.8095E-4 41448 0 7.23927E-5
17-47295162-A-G p.Gln116Arg missense ABI3 112 82898 0.00135106 41449 0 0.00302419
17-47295163-G-C p.Gln116His missense ABI3 1 82882 1.20653E-5 41441 0 NA
17-47295164-C-T p.Arg117Trp missense ABI3 3 82854 3.62083E-5 41427 0 3.62655E-5
17-47295165-G-A p.Arg117Gln missense ABI3 76 82852 9.17298E-4 41426 0 0.00318979
17-47295165-G-T p.Arg117Leu missense ABI3 1 82854 1.20694E-5 41427 0 8.24294E-6
17-47295172-C-G p.Pro119Pro synonymous ABI3 1 82886 1.20648E-5 41443 0 NA
17-47295173-C-T p.Pro120Ser missense ABI3 2 82892 2.41278E-5 41446 0 4.03174E-6
17-47295175-C-T p.Pro120Pro synonymous ABI3 2 82846 2.41412E-5 41423 0 6.25E-4
17-47295176-G-A p.Gly121Ser missense ABI3 1 82696 1.20925E-5 41348 0 NA
17-47295176-G-C p.Gly121Arg missense ABI3 1 82696 1.20925E-5 41348 0 8.24226E-6
17-47295191-G-T p.Ala126Ser missense ABI3 10 82892 1.20639E-4 41446 0 6.47569E-5
17-47295191-G-A p.Ala126Thr missense ABI3 1 82892 1.20639E-5 41446 0 1.64848E-5
17-47295206-C-T p.Pro131Ser missense ABI3 2 83066 2.40772E-5 41533 0 6.37633E-5
17-47295207-C-T p.Pro131Leu missense ABI3 2 83076 2.40743E-5 41538 0 NA
17-47295213-T-A p.Leu133His missense ABI3 2 83062 2.40784E-5 41531 0 NA
17-47295217-G-A p.Thr134Thr synonymous ABI3 1 83012 1.20465E-5 41506 0 1.25239E-5
17-47295220-C-T p.Pro135Pro synonymous ABI3 1 83042 1.20421E-5 41521 0 8.371E-6
17-47295241-C-T p.Asn142Asn synonymous ABI3 1 82880 1.20656E-5 41440 0 4.57544E-6
17-47295242-T-C p.Phe143Leu missense ABI3 2 82874 2.4133E-5 41437 0 8.29876E-6
17-47295245-G-C p.Gly144Arg missense ABI3 1 82858 1.20688E-5 41429 0 NA
17-47295254-G-A p.Asp147Asn missense ABI3 1 82708 1.20907E-5 41354 0 NA
17-47295256-C-T p.Asp147Asp synonymous ABI3 4 82660 4.8391E-5 41330 0 3.86649E-5
17-47295261-T-C p.Ile149Thr missense ABI3 1 82670 1.20963E-5 41335 0 3.18918E-5
17-47295268-T-A p.His151Gln missense ABI3 1 82580 1.21095E-5 41290 0 NA
17-47295272-A-T p.Ile153Phe missense ABI3 1 82594 1.21074E-5 41297 0 8.49979E-6
17-47295272-A-G p.Ile153Val missense ABI3 1 82594 1.21074E-5 41297 0 1.69996E-5
17-47295280-A-G c.462+3A>G splice_region ABI3 1 82374 1.21398E-5 41187 0 1.13942E-5
17-47296898-G-A c.463-4G>A splice_region ABI3 1 80462 1.24282E-5 40231 0 NA
17-47296905-C-G p.Leu156Val missense ABI3 1 80758 1.23827E-5 40379 0 NA
17-47296913-G-A p.Thr158Thr synonymous ABI3 1 80788 1.23781E-5 40394 0 NA
17-47296917-C-T p.Leu160Leu synonymous ABI3 1 80834 1.2371E-5 40417 0 NA
17-47296931-C-T p.Gly164Gly synonymous ABI3 55 80818 6.80541E-4 40409 0 0.00151822
17-47296932-A-G p.Thr165Ala missense ABI3 1 80770 1.23808E-5 40385 0 NA
17-47296934-CCT-C p.Leu166fs frameshift ABI3 1 80868 1.23658E-5 40434 0 NA
17-47296936-T-G p.Leu166Arg missense ABI3 3 80842 3.71094E-5 40421 0 0.00101215
17-47296946-G-A p.Lys169Lys synonymous ABI3 1 80636 1.24014E-5 40318 0 NA
17-47296948-G-T p.Ser170Ile missense ABI3 1 80530 1.24177E-5 40265 0 NA
17-47296961-T-C p.Pro174Pro synonymous ABI3 606 80670 0.00751209 40335 19 0.0158315
17-47296966-C-T p.Thr176Ile missense ABI3 4 80578 4.96413E-5 40289 0 1.32516E-4
17-47296986-G-A p.Gly183Arg missense+splice_region ABI3 4 80554 4.96561E-5 40277 0 NA
17-47296986-G-C p.Gly183Arg missense+splice_region ABI3 1 80556 1.24137E-5 40278 0 NA
17-47297214-C-T c.549-6C>T splice_region ABI3 1 69400 1.44092E-5 34700 0 1.38845E-5
17-47297215-G-C c.549-5G>C splice_region ABI3 2 69128 2.89318E-5 34564 0 5.5394E-5
17-47297222-G-T p.Arg184Ile missense+splice_region ABI3 3 69986 4.28657E-5 34993 0 6.07238E-5
17-47297222-G-A p.Arg184Lys missense+splice_region ABI3 1 69986 1.42886E-5 34993 0 9.56938E-5
17-47297238-C-G p.Pro189Pro synonymous ABI3 1 70426 1.41993E-5 35213 0 NA
17-47297243-C-T p.Pro191Leu missense ABI3 1 71492 1.39876E-5 35746 0 2.59855E-5
17-47297256-G-A p.Pro195Pro synonymous ABI3 2 72394 2.76266E-5 36197 0 6.37592E-5
17-47297260-G-A p.Val197Met missense ABI3 1 72518 1.37897E-5 36259 0 NA
17-47297266-G-A p.Asp199Asn missense ABI3 2 72766 2.74854E-5 36383 0 6.04252E-6
17-47297269-G-C p.Gly200Arg missense ABI3 2 72874 2.74446E-5 36437 0 NA
17-47297269-G-T p.Gly200Cys missense ABI3 2 72874 2.74446E-5 36437 0 0.00250941
17-47297271-C-T p.Gly200Gly synonymous ABI3 1 73084 1.36829E-5 36542 0 NA
17-47297280-C-T p.Ser203Ser synonymous ABI3 4 73480 5.44366E-5 36740 0 1.59439E-4
17-47297281-G-A p.Ala204Thr missense ABI3 1 73366 1.36303E-5 36683 0 4.32339E-5
17-47297291-C-T p.Ser207Phe missense ABI3 1 74608 1.34034E-5 37304 0 NA
17-47297294-C-T p.Ala208Val missense ABI3 12 74446 1.61191E-4 37223 0 2.23285E-4
17-47297295-G-C p.Ala208Ala synonymous ABI3 4 74484 5.37028E-5 37242 0 NA
17-47297297-T-C p.Phe209Ser missense ABI3 70286 70710 0.994004 35355 34936 0.999484
17-47297300-C-G p.Ser210Cys missense ABI3 1 74930 1.33458E-5 37465 0 NA
17-47297312-C-T p.Ala214Val missense ABI3 1 75206 1.32968E-5 37603 0 6.73256E-6
17-47297314-G-A p.Gly215Ser missense+splice_region ABI3 1 75456 1.32528E-5 37728 0 6.71429E-6
17-47297535-G-A p.Ala217Thr missense ABI3 1 81130 1.23259E-5 40565 0 8.62024E-6
17-47297537-C-A p.Ala217Ala synonymous ABI3 228 81226 0.00280698 40613 3 0.00594755
17-47297537-C-CGAAGGT p.Glu218_Gly219dup disruptive_inframe_insertion ABI3 2 81228 2.46221E-5 40614 0 8.63215E-6
17-47297547-G-A p.Gly221Ser missense ABI3 99 81296 0.00121777 40648 0 0.0010101
17-47297547-G-T p.Gly221Cys missense ABI3 4 81298 4.92017E-5 40649 0 1.60481E-5
17-47297561-G-A p.Thr225Thr synonymous ABI3 1 81328 1.22959E-5 40664 0 5.04541E-4
17-47297562-C-T p.Pro226Ser missense ABI3 11 81468 1.35022E-4 40734 0 4.23094E-4
17-47297568-G-A p.Gly228Arg missense ABI3 3 81524 3.6799E-5 40762 0 3.18695E-5
17-47297581-C-T p.Pro232Leu missense ABI3 2 81558 2.45224E-5 40779 0 NA
17-47297587-C-A p.Ala234Asp missense ABI3 1 81532 1.22651E-5 40766 0 NA
17-47297588-C-T p.Ala234Ala synonymous ABI3 7 81544 8.58432E-5 40772 0 1.2211E-5
17-47297590-C-CTTGG p.Pro236fs frameshift ABI3 1 81556 1.22615E-5 40778 0 NA
17-47297591-A-ACC p.Pro238fs frameshift ABI3 1 81478 1.22733E-5 40739 0 NA
17-47297593-C-T p.Pro236Leu missense ABI3 3 81550 3.67872E-5 40775 0 1.01964E-5
17-47297598-C-T p.Pro238Ser missense ABI3 47 81646 5.75656E-4 40823 1 3.70902E-4
17-47297605-C-T p.Ser240Phe missense ABI3 1 81590 1.22564E-5 40795 0 2.16581E-5
17-47297619-C-G p.Pro245Ala missense ABI3 7 81594 8.57906E-5 40797 0 9.55597E-5
17-47297619-C-T p.Pro245Ser missense ABI3 1 81594 1.22558E-5 40797 0 NA
17-47297628-GC-G p.Ala248fs frameshift ABI3 1 81670 1.22444E-5 40835 0 NA
17-47297634-G-C p.Val250Leu missense ABI3 1 81660 1.22459E-5 40830 0 4.2657E-6
17-47297636-C-G p.Val250Val synonymous ABI3 1 81650 1.22474E-5 40825 0 NA
17-47297637-G-A p.Glu251Lys missense ABI3 1 81622 1.22516E-5 40811 0 1.44425E-5
17-47297652-C-A p.Pro256Thr missense ABI3 2 81484 2.45447E-5 40742 0 3.18756E-5
17-47297657-C-G p.Pro257Pro synonymous ABI3 22 81500 2.69939E-4 40750 0 0.00100908
17-47297662-TGGA-T p.Glu261del conservative_inframe_deletion ABI3 1 81338 1.22944E-5 40669 0 4.61872E-6
17-47297667-G-GAGTT p.Ser263fs frameshift ABI3 1 81266 1.23053E-5 40633 0 NA
17-47297673-T-C p.Ser263Pro missense ABI3 1 80990 1.23472E-5 40495 0 NA
17-47297677-C-T p.Pro264Leu missense ABI3 3 80970 3.70508E-5 40485 0 3.18674E-5
17-47297677-C-CA p.Pro265fs frameshift ABI3 1 80970 1.23503E-5 40485 0 NA
17-47297686-C-T p.Pro267Leu missense+splice_region ABI3 1 80668 1.23965E-5 40334 0 1.0277E-5
17-47297687-G-A p.Pro267Pro splice_region+synonymous ABI3 1 80634 1.24017E-5 40317 0 1.0682E-4
17-47297695-A-T c.802+7A>T splice_region ABI3 3 80182 3.74149E-5 40091 0 6.3861E-5
17-47299429-C-G c.254-3C>G splice_region ABI3 2 81868 2.44296E-5 40934 0 8.93863E-6
17-47299432-C-T p.Ala85Val missense+splice_region ABI3 2 81964 2.4401E-5 40982 0 3.18715E-5
17-47299439-G-T p.Leu87Leu synonymous ABI3 1 82202 1.21652E-5 41101 0 NA
17-47299445-C-T c.803-8C>T splice_region ABI3 4 82324 4.85885E-5 41162 0 2.64658E-5
17-47299445-C-G p.Phe89Leu missense ABI3 2 82324 2.42943E-5 41162 0 NA
17-47299447-C-T p.Pro90Leu missense ABI3 1 82360 1.21418E-5 41180 0 NA
17-47299454-C-T p.Asp268Asp splice_region+synonymous ABI3 27 82460 3.27431E-4 41230 0 5.10172E-4
17-47299455-G-A p.Glu269Lys missense+splice_region ABI3 4 82484 4.84943E-5 41242 0 2.5507E-4
17-47299472-A-C p.Pro274Pro synonymous ABI3 7 82912 8.44269E-5 41456 0 3.34375E-5
17-47299478-C-T p.Asp276Asp synonymous ABI3 8 82998 9.63879E-5 41499 0 5.03525E-4
17-47299481-GCCT-G p.Pro281del disruptive_inframe_deletion ABI3 3 83044 3.61254E-5 41522 0 1.24401E-4
17-47299487-T-C p.Pro279Pro synonymous ABI3 1 83056 1.20401E-5 41528 0 NA
17-47299488-C-T p.Pro280Ser missense ABI3 1 83074 1.20375E-5 41537 0 8.27144E-6
17-47299489-C-T p.Pro280Leu missense ABI3 2 83090 2.40703E-5 41545 0 NA
17-47299494-C-A p.Pro282Thr missense ABI3 3 83114 3.6095E-5 41557 0 2.23044E-4
17-47299496-C-T p.Pro282Pro synonymous ABI3 1 83116 1.20314E-5 41558 0 NA
17-47299496-C-G p.Pro282Pro synonymous ABI3 1 83116 1.20314E-5 41558 0 1.65246E-5
17-47299497-C-A p.Leu283Met missense ABI3 1 83114 1.20317E-5 41557 0 NA
17-47299501-A-T p.Asp284Val missense ABI3 7 83102 8.42338E-5 41551 0 3.19061E-4
17-47299509-G-A p.Glu287Lys missense ABI3 2 83156 2.40512E-5 41578 0 8.2545E-6
17-47299527-C-T p.Pro293Ser missense ABI3 1 83104 1.20331E-5 41552 0 NA
17-47299530-C-T p.Pro294Ser missense ABI3 1 83104 1.20331E-5 41552 0 NA
17-47299534-C-T p.Pro295Leu missense ABI3 1 83098 1.2034E-5 41549 0 NA
17-47299558-G-C p.Ser303Thr missense ABI3 1 83050 1.20409E-5 41525 0 NA
17-47299569-G-T p.Ala307Ser missense ABI3 4 83052 4.81626E-5 41526 0 6.37308E-5
17-47299575-T-C p.Tyr309His missense ABI3 2 83000 2.40964E-5 41500 0 NA
17-47299578-T-G p.Leu310Val missense ABI3 4 82988 4.81997E-5 41494 0 1.27518E-4
17-47299580-G-C p.Leu310Phe missense ABI3 1 82976 1.20517E-5 41488 0 8.30055E-6
17-47299913-G-C c.938-1G>C splice_acceptor ABI3 1 82404 1.21353E-5 41202 0 1.655E-5
17-47299919-A-G p.Thr315Ala missense ABI3 181 82432 0.00219575 41216 0 0.00280469
17-47299920-C-A p.Thr315Lys missense ABI3 1 82480 1.21242E-5 41240 0 NA
17-47299930-A-G p.Pro318Pro synonymous ABI3 12 82538 1.45388E-4 41269 0 2.23314E-4
17-47299940-CAGA-C p.Lys323del conservative_inframe_deletion ABI3 2 82558 2.42254E-5 41279 0 1.65183E-5
17-47299941-A-G p.Gln322Arg missense ABI3 1 82548 1.21142E-5 41274 0 1.98989E-5
17-47299962-T-C p.Phe329Ser missense ABI3 2 82524 2.42354E-5 41262 0 3.18695E-5
17-47299969-G-A p.Glu331Glu synonymous ABI3 1 82484 1.21236E-5 41242 0 3.18573E-5
17-47299982-T-C p.Cys336Arg missense ABI3 1 82336 1.21454E-5 41168 0 NA
17-47299985-G-A p.Val337Ile missense ABI3 2 82278 2.43078E-5 41139 0 NA
17-47299991-C-T p.Arg339Cys missense ABI3 1 82114 1.21782E-5 41057 0 1.99325E-5
17-47299992-G-A p.Arg339His missense ABI3 3 82060 3.65586E-5 41030 0 9.56861E-5
17-47299995-G-A p.Arg340His missense ABI3 4 82004 4.87781E-5 41002 0 3.18552E-5
17-47299996-C-T p.Arg340Arg synonymous ABI3 1 82012 1.21933E-5 41006 0 3.98759E-6
17-47299997-T-A p.Tyr341Asn missense ABI3 3 82020 3.65764E-5 41010 0 9.55718E-5
17-47299999-C-T p.Tyr341Tyr synonymous ABI3 1 81982 1.21978E-5 40991 0 NA
17-47300002-C-T p.Ser342Ser synonymous ABI3 8 81928 9.76467E-5 40964 0 1.27413E-4
17-47300002-C-CG p.Asp343fs frameshift ABI3 6 81928 7.3235E-5 40964 0 2.81115E-5
17-47300003-G-A p.Asp343Asn missense ABI3 2 81870 2.4429E-5 40935 0 5.78402E-5
17-47300008-C-T p.Gly344Gly synonymous ABI3 2 81792 2.44523E-5 40896 0 1.27405E-4
17-47300010-G-A p.Trp345* stop_gained ABI3 1 81756 1.22315E-5 40878 0 NA
17-47300013-G-A p.Cys346Tyr missense ABI3 1 81676 1.22435E-5 40838 0 2.19998E-5
17-47300014-C-T p.Cys346Cys synonymous ABI3 4 81618 4.90088E-5 40809 0 6.37146E-5
17-47300020-C-T p.Gly348Gly synonymous ABI3 3 81526 3.67981E-5 40763 0 4.90846E-5
17-47300032-G-A p.Glu352Glu synonymous ABI3 3 81500 3.68098E-5 40750 0 6.25E-4
17-47300056-C-G p.Asn360Lys missense ABI3 1 81378 1.22883E-5 40689 0 NA
17-47300396-T-C c.*319T>C splice_region ABI3 3 6754 4.44181E-4 3377 0 1.91205E-4
17-47300397-A-T c.*320A>T splice_region ABI3 1 6798 1.47102E-4 3399 0 NA