Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-204192975-G-T c.-263G>T 5_prime_UTR_premature_start_codon_gain ABI2 1 20756 4.81788E-5 10378 0 NA
2-204193018-C-T c.-220C>T 5_prime_UTR_premature_start_codon_gain ABI2 1 34672 2.88417E-5 17336 0 NA
2-204193022-C-T c.-216C>T 5_prime_UTR_premature_start_codon_gain ABI2 1 35800 2.7933E-5 17900 0 3.20883E-5
2-204193029-C-T c.-209C>T 5_prime_UTR_premature_start_codon_gain ABI2 41 38374 0.00106843 19187 0 0.0018926
2-204193047-C-G c.-191C>G 5_prime_UTR_premature_start_codon_gain ABI2 1 45060 2.21926E-5 22530 0 NA
2-204193130-C-T c.-319C>T 5_prime_UTR_premature_start_codon_gain ABI2 1 73160 1.36687E-5 36580 0 NA
2-204193136-C-T c.-313C>T 5_prime_UTR_premature_start_codon_gain ABI2 2 74122 2.69825E-5 37061 0 NA
2-204193152-C-G c.-297C>G 5_prime_UTR_premature_start_codon_gain ABI2 1 76472 1.30767E-5 38236 0 NA
2-204193159-C-T c.-290C>T 5_prime_UTR_premature_start_codon_gain ABI2 1 76888 1.30059E-5 38444 0 NA
2-204193213-G-T c.-236G>T 5_prime_UTR_premature_start_codon_gain ABI2 1 78578 1.27262E-5 39289 0 NA
2-204193250-C-CGGCGGA p.Gln5delinsArgArgLys disruptive_inframe_insertion ABI2 1 79368 1.25995E-5 39684 0 NA
2-204193263-A-G p.Glu9Gly missense ABI2 1 79630 1.25581E-5 39815 0 NA
2-204193275-C-CG p.Arg16fs frameshift ABI2 1 79840 1.2525E-5 39920 0 2.10944E-5
2-204193275-C-CGG p.Arg16fs frameshift ABI2 1 79856 1.25225E-5 39928 0 NA
2-204193294-C-T p.Leu19Leu synonymous ABI2 1 80194 1.24698E-5 40097 0 8.35478E-6
2-204193297-C-G p.Phe20Leu missense ABI2 1 80212 1.2467E-5 40106 0 NA
2-204193305-A-T p.Tyr23Phe missense ABI2 1 80186 1.2471E-5 40093 0 NA
2-204193315-G-A p.Leu26Leu synonymous ABI2 1 80180 1.24719E-5 40090 0 NA
2-204193320-G-A p.Arg28Gln missense ABI2 1 80148 1.24769E-5 40074 0 3.19898E-5
2-204206916-A-C c.118-4A>C splice_region ABI2 3 51146 5.86556E-5 25573 0 3.18431E-5
2-204206934-T-G p.Phe44Leu missense ABI2 1 51160 1.95465E-5 25580 0 7.45779E-6
2-204206953-G-T p.Val51Phe missense+splice_region ABI2 1 51172 1.95419E-5 25586 0 7.47652E-6
2-204216283-G-A p.Trp41* stop_gained ABI2 5 8252 6.05914E-4 4126 0 3.39397E-4
2-204216284-G-A p.Gly42Ser missense ABI2 1 8258 1.21095E-4 4129 0 NA
2-204216293-A-G p.Met45Val missense ABI2 1 8172 1.22369E-4 4086 0 NA
2-204216312-GCAGTGGTGTGAT-G p.Ser52_Ile55del disruptive_inframe_deletion ABI2 1 8126 1.23062E-4 4063 0 3.25818E-5
2-204216380-T-C p.Ser74Pro missense ABI2 10 7800 0.00128205 3900 0 0.00271652
2-204216406-G-A c.*13+5G>A splice_region ABI2 2 7302 2.73898E-4 3651 0 4.23549E-4
2-204219880-T-C p.Phe41Leu missense ABI2 1 49346 2.02651E-5 24673 0 NA
2-204219881-T-C p.Phe41Ser missense ABI2 2 49370 4.05104E-5 24685 0 6.37186E-5
2-204219883-C-T p.Arg42Cys missense ABI2 5 49368 1.0128E-4 24684 0 1.59357E-4
2-204219884-G-A p.Arg42His missense ABI2 3 49322 6.08248E-5 24661 0 1.54116E-5
2-204219894-T-C p.Ser45Ser synonymous ABI2 1 49872 2.00513E-5 24936 0 NA
2-204219899-A-C p.Tyr47Ser missense ABI2 1 49858 2.0057E-5 24929 0 2.46144E-4
2-204219902-C-T p.Pro48Leu missense ABI2 14 49882 2.80662E-4 24941 0 8.6075E-4
2-204219904-C-G p.Leu49Val missense ABI2 13 49842 2.60824E-4 24921 0 0.00566316
2-204219928-A-G p.Met57Val missense ABI2 19 49584 3.83188E-4 24792 0 6.05443E-4
2-204219935-G-T p.Ser59Ile missense ABI2 1 49396 2.02446E-5 24698 0 7.61429E-6
2-204220052-G-A c.*108+5G>A splice_region ABI2 2 37860 5.28262E-5 18930 0 6.41478E-5
2-204231594-T-TC c.-94-6_-94-5insC splice_region ABI2 2 81536 2.4529E-5 40768 0 9.44849E-6
2-204231594-T-A c.-94-6T>A splice_region ABI2 1 81536 1.22645E-5 40768 0 NA
2-204231621-C-T p.Leu47Leu synonymous ABI2 4 83156 4.81024E-5 41578 0 8.2702E-6
2-204231625-A-G p.Glu48Gly missense ABI2 1 83248 1.20123E-5 41624 0 NA
2-204231637-C-T p.Ala52Val missense ABI2 1 83304 1.20042E-5 41652 0 NA
2-204231650-A-G p.Gln56Gln synonymous ABI2 1 83366 1.19953E-5 41683 0 NA
2-204231654-T-G p.Leu58Val missense ABI2 2 83368 2.399E-5 41684 0 NA
2-204231689-C-A p.Ala69Ala synonymous ABI2 2 83362 2.39917E-5 41681 0 NA
2-204231718-A-G p.Gln79Arg missense+splice_region ABI2 1 83334 1.19999E-5 41667 0 NA
2-204231750-A-G p.Ile90Val missense ABI2 2 83302 2.4009E-5 41651 0 8.2949E-6
2-204240793-G-A p.Val30Ile missense ABI2 1 77480 1.29066E-5 38740 0 4.39651E-5
2-204240813-T-G p.Phe36Leu missense ABI2 1 77496 1.29039E-5 38748 0 NA
2-204240824-T-C p.Phe40Ser missense ABI2 1 77488 1.29052E-5 38744 0 NA
2-204240845-G-A p.Arg47Lys missense ABI2 6 77484 7.74353E-5 38742 0 2.20822E-5
2-204244989-A-G p.Asn70Ser missense ABI2 3 83184 3.60646E-5 41592 0 8.2605E-5
2-204245002-A-G p.Ser74Ser synonymous ABI2 2 83202 2.40379E-5 41601 0 4.06058E-6
2-204245004-G-A p.Arg75Lys missense ABI2 1 83212 1.20175E-5 41606 0 3.18593E-5
2-204245010-A-C p.His77Pro missense ABI2 1 83204 1.20187E-5 41602 0 NA
2-204245027-G-T p.Ala83Ser missense ABI2 1 83212 1.20175E-5 41606 0 NA
2-204245035-T-G p.Leu85Leu synonymous ABI2 1 83182 1.20218E-5 41591 0 4.07103E-6
2-204245048-C-T p.Arg90Cys missense ABI2 1 83144 1.20273E-5 41572 0 NA
2-204245060-A-G p.Lys94Glu missense ABI2 1 83102 1.20334E-5 41551 0 NA
2-204245066-A-G p.Ile96Val missense ABI2 104 83060 0.00125211 41530 2 0.0020141
2-204245069-G-A p.Asp97Asn missense ABI2 1 83058 1.20398E-5 41529 0 NA
2-204245073-A-G p.Tyr98Cys missense ABI2 2 82994 2.40981E-5 41497 0 6.36902E-5
2-204245091-T-C p.Ile104Thr missense ABI2 1 82538 1.21156E-5 41269 0 5.03525E-4
2-204245097-A-G p.His106Arg missense ABI2 1 82296 1.21513E-5 41148 0 NA
2-204245102-G-A p.Val108Ile missense ABI2 2 82220 2.4325E-5 41110 0 5.26826E-6
2-204246912-T-C p.Trp155Arg missense+splice_region ABI2 6 77172 7.77484E-5 38586 0 2.22816E-4
2-204246922-G-A p.Arg158Lys missense ABI2 3 77192 3.88641E-5 38596 0 NA
2-204255760-AT-A c.328-8delT splice_region ABI2 1 83106 1.20328E-5 41553 0 NA
2-204255760-A-AT c.328-9_328-8insT splice_region ABI2 1 83106 1.20328E-5 41553 0 NA
2-204255762-T-A c.328-7T>A splice_region ABI2 1 83110 1.20322E-5 41555 0 NA
2-204255792-G-T p.Met117Ile missense ABI2 1 83282 1.20074E-5 41641 0 3.18471E-5
2-204255795-T-C p.Gly118Gly synonymous ABI2 19 83274 2.28162E-4 41637 0 0.00125
2-204255801-G-A p.Leu120Leu synonymous ABI2 1 83266 1.20097E-5 41633 0 1.19505E-5
2-204255803-C-T p.Pro121Leu missense ABI2 7 83260 8.4074E-5 41630 0 6.05526E-5
2-204255804-G-A p.Pro121Pro synonymous ABI2 3 83260 3.60317E-5 41630 0 3.45787E-5
2-204255808-A-T p.Thr123Ser missense ABI2 1 83268 1.20094E-5 41634 0 NA
2-204255830-C-T p.Pro130Leu missense ABI2 2 83250 2.4024E-5 41625 0 NA
2-204255832-C-G p.Pro131Ala missense ABI2 1 83246 1.20126E-5 41623 0 NA
2-204255834-T-A p.Pro131Pro synonymous ABI2 1 83252 1.20117E-5 41626 0 3.18451E-5
2-204255838-C-T p.Pro133Ser missense ABI2 2 83228 2.40304E-5 41614 0 NA
2-204255844-A-G p.Met135Val missense ABI2 1 83212 1.20175E-5 41606 0 4.00189E-6
2-204255847-T-G p.Ser136Ala missense ABI2 1 83194 1.20201E-5 41597 0 NA
2-204255867-G-GCGGCACTCCCCCTATCGCACAC c.425+1_425+2insCGGCACTCCCCCTATCGCACAC splice_donor ABI2 3 83052 3.61219E-5 41526 1 NA
2-204255869-G-A c.425+3G>A splice_region ABI2 2 83006 2.40946E-5 41503 0 2.12635E-5
2-204259415-T-C c.426-8T>C splice_region ABI2 2 83056 2.40801E-5 41528 0 NA
2-204259425-G-A p.Arg143Gln missense+splice_region ABI2 1 83068 1.20383E-5 41534 0 8.27965E-6
2-204259427-C-T p.His144Tyr missense ABI2 1 83100 1.20337E-5 41550 0 NA
2-204259443-C-T p.Thr149Ile missense ABI2 1 83188 1.2021E-5 41594 0 NA
2-204259448-G-C p.Glu151Gln missense ABI2 1 83216 1.20169E-5 41608 0 NA
2-204259458-G-A p.Arg154His missense ABI2 1 83248 1.20123E-5 41624 0 3.29864E-5
2-204259479-A-G p.Asp161Gly missense ABI2 1 83300 1.20048E-5 41650 0 NA
2-204259481-T-C p.Tyr162His missense ABI2 1 83292 1.2006E-5 41646 0 3.18532E-5
2-204259483-C-T p.Tyr162Tyr synonymous ABI2 2 83286 2.40136E-5 41643 0 3.97785E-6
2-204259486-A-C p.Val163Val synonymous ABI2 2 83284 2.40142E-5 41642 0 8.24375E-6
2-204259488-C-T p.Pro164Leu missense ABI2 1 83282 1.20074E-5 41641 0 NA
2-204259505-A-G p.Met170Val missense ABI2 2 83260 2.40211E-5 41630 0 1.59215E-4
2-204259506-T-C p.Met170Thr missense ABI2 1 83258 1.20109E-5 41629 0 3.97804E-6
2-204259515-C-T p.Ser173Leu missense ABI2 1 83234 1.20143E-5 41617 0 NA
2-204259524-G-C p.Ser176Thr missense ABI2 3 83186 3.60638E-5 41593 0 3.18307E-5
2-204259526-C-A p.Pro177Thr missense ABI2 1 83182 1.20218E-5 41591 0 NA
2-204259560-G-A p.Arg188Gln missense ABI2 2 83016 2.40917E-5 41508 0 NA
2-204259565-T-C p.Tyr190His missense ABI2 1 83000 1.20482E-5 41500 0 NA
2-204259569-G-GCAGCAGTGGGAGTAGTGGAGGGAGCCACCCAA c.572_572+1insCAGCAGTGGGAGTAGTGGAGGGAGCCACCCAA splice_donor ABI2 1 82994 1.20491E-5 41497 0 NA
2-204259569-G-GCAGCAGTGGGAGTAGTGGAGGGAGCCACCCAAGTAGTCGGA c.572_572+1insCAGCAGTGGGAGTAGTGGAGGGAGCCACCCAAGTAGTCGGA splice_donor ABI2 2 82994 2.40981E-5 41497 1 NA
2-204259569-G-GCAGCAGTGGGAGTAGTGGAGGGAGCCACCCAAGTAGTC c.572_572+1insCAGCAGTGGGAGTAGTGGAGGGAGCCACCCAAGTAGTC splice_donor ABI2 2 82994 2.40981E-5 41497 1 NA
2-204259572-A-AT c.572+7dupT splice_region ABI2 1 82974 1.2052E-5 41487 0 NA
2-204260376-T-C c.573-3T>C splice_region ABI2 2 83276 2.40165E-5 41638 0 8.16627E-6
2-204260388-G-A p.Gly194Gly synonymous ABI2 2 83352 2.39946E-5 41676 0 2.81566E-5
2-204260392-A-G p.Ser196Gly missense ABI2 1 83362 1.19959E-5 41681 0 NA
2-204260423-G-A p.Ser206Asn missense ABI2 1 83414 1.19884E-5 41707 0 NA
2-204260433-G-A p.Glu209Glu synonymous ABI2 1 83428 1.19864E-5 41714 0 8.23791E-6
2-204260451-T-C p.Ser215Ser synonymous ABI2 1 83424 1.1987E-5 41712 0 NA
2-204260482-T-C p.Ser226Pro missense ABI2 2 83340 2.39981E-5 41670 0 4.15614E-6
2-204260494-G-A p.Val230Ile missense ABI2 1 83314 1.20028E-5 41657 0 NA
2-204260499-T-C p.Phe231Phe synonymous ABI2 1 83258 1.20109E-5 41629 0 3.18552E-5
2-204260500-C-T p.Pro232Ser missense ABI2 2 83200 2.40385E-5 41600 0 4.28736E-6
2-204261503-C-T c.209-5C>T splice_region ABI2 1 76988 1.2989E-5 38494 0 NA
2-204261513-G-C p.Ala72Pro missense ABI2 1 77038 1.29806E-5 38519 0 3.18796E-5
2-204261516-G-A p.Gly73Ser missense ABI2 1 77050 1.29786E-5 38525 0 NA
2-204261520-C-G p.Ser74Cys missense ABI2 2 77072 2.59498E-5 38536 0 NA
2-204261523-C-G p.Ala75Gly missense ABI2 1 77078 1.29739E-5 38539 0 3.05768E-5
2-204261523-C-T p.Ala75Val missense ABI2 1 77078 1.29739E-5 38539 0 NA
2-204261528-A-C p.Thr77Pro missense ABI2 2 77068 2.59511E-5 38534 0 NA
2-204261535-C-G p.Pro79Arg missense ABI2 1 77092 1.29715E-5 38546 0 7.53875E-6
2-204261545-T-G p.Ala82Ala synonymous ABI2 2 77102 2.59397E-5 38551 0 8.19807E-5
2-204261547-C-T p.Thr83Ile missense ABI2 2 77126 2.59316E-5 38563 0 1.48956E-5
2-204261558-G-GCCCCTGCTCCTCTTGTTC p.Pro93_Ala94insProAlaProLeuValPro disruptive_inframe_insertion ABI2 1 77172 1.29581E-5 38586 0 7.4281E-6
2-204261558-G-T p.Ala87Ser missense ABI2 1 77172 1.29581E-5 38586 0 7.4281E-6
2-204261560-C-T p.Ala87Ala synonymous ABI2 2 77170 2.59168E-5 38585 0 6.37024E-5
2-204261562-C-T p.Pro88Leu missense ABI2 1 77186 1.29557E-5 38593 0 NA
2-204261577-C-T p.Pro93Leu missense ABI2 1 77264 1.29426E-5 38632 0 2.21785E-5
2-204261592-C-T p.Ser98Phe missense ABI2 1 77358 1.29269E-5 38679 0 NA
2-204261599-T-C c.851-8T>C splice_region ABI2 1 77398 1.29202E-5 38699 0 NA
2-204261608-C-T p.Asp284Asp splice_region+synonymous ABI2 6 77484 7.74353E-5 38742 0 6.11995E-4
2-204261609-G-A p.Ala285Thr missense+splice_region ABI2 5 77488 6.45261E-5 38744 0 2.23921E-5
2-204261616-C-T p.Ala106Val missense ABI2 1 77518 1.29002E-5 38759 0 7.4016E-6
2-204261622-G-A p.Gly108Asp missense ABI2 1 77512 1.29012E-5 38756 0 NA
2-204261633-C-A p.Leu112Ile missense ABI2 2 77538 2.57938E-5 38769 0 NA
2-204261659-T-TC p.Val123fs frameshift ABI2 1 77424 1.29159E-5 38712 0 NA
2-204261660-C-A p.Pro121Thr missense ABI2 19 77438 2.45358E-4 38719 0 1.65508E-4
2-204261660-C-T p.Pro121Ser missense ABI2 1 77438 1.29136E-5 38719 0 NA
2-204261690-G-A p.Gly131Ser missense+splice_region ABI2 1 77170 1.29584E-5 38585 0 NA
2-204267302-A-G p.His234Arg missense ABI2 1 82380 1.21389E-5 41190 0 NA
2-204267307-G-A p.Val236Ile missense ABI2 1 82676 1.20954E-5 41338 0 NA
2-204267316-T-C p.Tyr239His missense ABI2 1 83164 1.20244E-5 41582 0 NA
2-204267331-C-A p.Pro244Thr missense ABI2 1 83224 1.20158E-5 41612 0 NA
2-204267336-C-T p.Ala245Ala synonymous ABI2 1 83228 1.20152E-5 41614 0 3.34348E-5
2-204267355-A-G p.Thr252Ala missense ABI2 1 83304 1.20042E-5 41652 0 NA
2-204267359-T-C p.Ile253Thr missense ABI2 1 83310 1.20034E-5 41655 0 1.22555E-5
2-204267361-G-C p.Gly254Arg missense ABI2 1 83304 1.20042E-5 41652 0 NA
2-204267365-G-A p.Gly255Asp missense ABI2 1 83304 1.20042E-5 41652 0 NA
2-204267368-C-G p.Ser256Trp missense ABI2 1 83302 1.20045E-5 41651 0 NA
2-204267369-G-T p.Ser256Ser synonymous ABI2 1 83306 1.20039E-5 41653 0 3.18634E-5
2-204267383-G-A p.Arg261His missense ABI2 1 83294 1.20057E-5 41647 0 NA
2-204267404-A-G p.Gln268Arg missense ABI2 1 83330 1.20005E-5 41665 0 8.26091E-6
2-204267404-A-C p.Gln268Pro missense ABI2 1 83330 1.20005E-5 41665 0 NA
2-204267405-A-G p.Gln268Gln synonymous ABI2 22 83332 2.64004E-4 41666 0 2.72619E-4
2-204267411-C-T p.Ser270Ser synonymous ABI2 1 83342 1.19988E-5 41671 0 NA
2-204267412-C-G p.Leu271Val missense ABI2 1 83342 1.19988E-5 41671 0 NA
2-204267413-T-A p.Leu271His missense ABI2 44 83344 5.27932E-4 41672 0 5.15983E-4
2-204267421-C-A p.Gln274Lys missense ABI2 2 83338 2.39987E-5 41669 1 NA
2-204267422-A-G p.Gln274Arg missense ABI2 1 83332 1.20002E-5 41666 0 4.17896E-6
2-204267456-A-G p.Pro285Pro splice_region+synonymous ABI2 30 83004 3.61428E-4 41502 0 6.37267E-4
2-204267465-T-C c.856+8T>C splice_region ABI2 1 82886 1.20648E-5 41443 0 NA
2-204268082-A-G n.682A>G splice_region ABI2 10 44238 2.2605E-4 22119 0 0.003125
2-204268092-A-G n.684+8A>G splice_region ABI2 2 44244 4.52039E-5 22122 0 6.37024E-5
2-204276016-G-GCTC p.Pro338dup disruptive_inframe_insertion ABI2 2 83308 2.40073E-5 41654 0 3.97779E-6
2-204276016-G-T p.Ala334Ser missense ABI2 1 83306 1.20039E-5 41653 0 NA
2-204276030-C-T p.Pro338Pro synonymous ABI2 1 83324 1.20013E-5 41662 0 NA
2-204276033-C-T p.Ser339Ser synonymous ABI2 3 83316 3.60075E-5 41658 0 4.77285E-5
2-204276034-A-G p.Ile340Val missense ABI2 2 83320 2.40038E-5 41660 0 3.18796E-5
2-204276091-A-G p.Asn359Asp missense ABI2 1 83272 1.20088E-5 41636 0 NA
2-204276093-T-C p.Asn359Asn splice_region+synonymous ABI2 1 83268 1.20094E-5 41634 0 NA
2-204276094-A-ATTTCAGATACACCACCTCCACCGCCACCTGT c.1078_1078+1insTTTCAGATACACCACCTCCACCGCCACCTGT splice_donor ABI2 2 83268 2.40188E-5 41634 1 NA
2-204281623-G-A c.857-8G>A splice_region ABI2 4 83076 4.81487E-5 41538 0 6.25E-4
2-204281638-T-C p.Asp288Asp synonymous ABI2 4 83196 4.80792E-5 41598 0 8.40944E-6
2-204281643-C-T p.Pro290Leu missense ABI2 1 83220 1.20163E-5 41610 0 5.09165E-4
2-204281647-T-G p.Pro291Pro synonymous ABI2 1 83268 1.20094E-5 41634 0 NA
2-204281650-A-G p.Pro292Pro synonymous ABI2 4 83284 4.80284E-5 41642 0 3.99501E-6
2-204281653-G-A p.Pro293Pro synonymous ABI2 1 83304 1.20042E-5 41652 0 4.00083E-6
2-204281674-C-T p.Val300Val synonymous ABI2 12 83362 1.4395E-4 41681 0 9.07546E-5
2-204281678-G-C p.Asp302His missense ABI2 1 83372 1.19944E-5 41686 0 NA
2-204281682-A-G p.Glu303Gly missense ABI2 2 83376 2.39877E-5 41688 0 8.24593E-6
2-204281685-C-G p.Ser304Cys missense ABI2 2 83380 2.39866E-5 41690 0 6.37024E-5
2-204281691-C-A p.Pro306Gln missense ABI2 2 83384 2.39854E-5 41692 0 1.19332E-5
2-204281691-C-G p.Pro306Arg missense ABI2 1 83386 1.19924E-5 41693 0 3.97772E-6
2-204281692-A-ACCT p.Pro311dup disruptive_inframe_insertion ABI2 3 83388 3.59764E-5 41694 0 4.94495E-5
2-204281699-C-T p.Pro309Ser missense ABI2 1 83398 1.19907E-5 41699 0 NA
2-204281701-T-C p.Pro309Pro synonymous ABI2 2 83404 2.39797E-5 41702 0 3.18613E-5
2-204281716-C-T p.Tyr314Tyr synonymous ABI2 5 83408 5.99463E-5 41704 0 3.29533E-5
2-204281728-A-G p.Glu318Glu synonymous ABI2 2 83414 2.39768E-5 41707 0 3.97684E-6
2-204281737-G-C p.Val321Val synonymous ABI2 124 83408 0.00148667 41704 0 0.00378957
2-204281758-T-C p.Tyr328Tyr synonymous ABI2 237 83406 0.00284152 41703 2 0.00404381
2-204281786-C-T p.Arg338Cys missense ABI2 1 83370 1.19947E-5 41685 0 5.04032E-4
2-204281787-G-A p.Arg338His missense ABI2 1 83364 1.19956E-5 41682 0 4.06312E-6
2-204281789-T-C p.Ser339Pro missense ABI2 1 83360 1.19962E-5 41680 0 NA
2-204291964-T-C p.Ile365Ile synonymous ABI2 7 83290 8.40437E-5 41645 0 2.38646E-5
2-204291970-T-C p.Tyr367Tyr synonymous ABI2 3 83296 3.60161E-5 41648 0 2.47194E-5
2-204291988-C-T p.Asp373Asp synonymous ABI2 2 83308 2.40073E-5 41654 0 6.37227E-5
2-204292011-T-C p.Met381Thr missense ABI2 1 83318 1.20022E-5 41659 0 8.24185E-6
2-204292019-G-T p.Val384Leu missense ABI2 1 83326 1.20011E-5 41663 0 3.97703E-6
2-204292027-G-A p.Gly386Gly synonymous ABI2 1 83314 1.20028E-5 41657 0 NA
2-204292043-T-TA p.Tyr392fs frameshift ABI2 1 83292 1.2006E-5 41646 0 NA
2-204292060-G-A p.Met397Ile missense ABI2 4 83270 4.80365E-5 41635 0 8.39137E-6
2-204292066-T-C p.Tyr399Tyr synonymous ABI2 21 83250 2.52252E-4 41625 0 0.00125
2-204292070-G-C p.Glu401Gln missense ABI2 1 83234 1.20143E-5 41617 0 NA
2-204292671-C-T c.*596C>T splice_region ABI2 1 29938 3.34024E-5 14969 0 NA
2-204293311-AAATT-A c.*1240_*1243delTAAT splice_region ABI2 92 41114 0.00223768 20557 0 0.00175103
2-204293319-A-G c.*1244A>G splice_region ABI2 2 39930 5.00877E-5 19965 0 NA
2-204301605-C-T n.595C>T splice_region ABI2 2 3088 6.47668E-4 1544 0 0.00178412
2-204312443-ATAAC-A c.*20369_*20372delTAAC splice_region ABI2 1 34946 2.86156E-5 17473 0 NA
2-204312444-T-C c.*20369T>C splice_region ABI2 1 35578 2.81073E-5 17789 0 3.18837E-5