Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
20-43248495-G-A c.1079-7C>T splice_region ADA 4 83300 4.80192E-5 41650 0 1.56629E-4
20-43248953-A-G p.Pro355Pro synonymous ADA 3 83278 3.60239E-5 41639 0 1.64728E-5
20-43248970-C-A p.Ala350Ser missense ADA 2 83322 2.40033E-5 41661 0 3.97621E-6
20-43248974-A-G p.Tyr348Tyr synonymous ADA 2 83326 2.40021E-5 41663 0 7.95241E-6
20-43248976-A-G p.Tyr348His missense ADA 1 83330 1.20005E-5 41665 0 NA
20-43248985-C-T p.Asp345Asn missense ADA 2 83330 2.4001E-5 41665 0 8.23642E-6
20-43248986-G-A p.Leu344Leu synonymous ADA 2 83340 2.39981E-5 41670 0 1.5905E-5
20-43248998-C-T p.Lys340Lys synonymous ADA 7 83332 8.40013E-5 41666 0 2.14154E-4
20-43249007-T-A p.Glu337Asp missense ADA 1 83302 1.20045E-5 41651 0 NA
20-43249010-T-C p.Pro336Pro synonymous ADA 1 83308 1.20036E-5 41654 0 3.57861E-5
20-43249013-G-C p.Leu335Leu synonymous ADA 2 83302 2.4009E-5 41651 0 3.97624E-6
20-43249020-CTA-C p.Ser333fs frameshift ADA 1 83290 1.20062E-5 41645 0 NA
20-43249021-T-C p.Ser333Gly missense ADA 2 83288 2.40131E-5 41644 0 3.9763E-6
20-43249031-C-T p.Ala329Ala synonymous ADA 3 83264 3.603E-5 41632 0 1.64764E-5
20-43249032-G-A p.Ala329Val missense ADA 6 83256 7.20669E-5 41628 0 1.59205E-4
20-43249033-C-T p.Ala329Thr missense ADA 1 83248 1.20123E-5 41624 0 NA
20-43249035-T-C p.Asn328Ser missense ADA 2 83242 2.40263E-5 41621 0 4.94389E-5
20-43249040-G-A p.Asn326Asn splice_region+synonymous ADA 1 83226 1.20155E-5 41613 0 NA
20-43249043-C-CAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTT c.976-2_976-1insAACGGGACATGGGCTTTACTGAAGAGGAGTTTAAAAGGCT splice_acceptor ADA 1 83202 1.20189E-5 41601 0 NA
20-43249651-C-T c.975+8G>A splice_region ADA 8 83364 9.59647E-5 41682 0 2.86807E-4
20-43249670-ACTC-A p.Glu321del conservative_inframe_deletion ADA 1 83404 1.19898E-5 41702 0 NA
20-43249673-CCTCTT-C p.Glu319fs frameshift ADA 16 83412 1.91819E-4 41706 0 1.31783E-4
20-43249689-C-T p.Met315Ile missense ADA 2 83416 2.39762E-5 41708 0 3.18552E-5
20-43249690-A-G p.Met315Thr missense ADA 1 83418 1.19878E-5 41709 0 8.23642E-6
20-43249692-G-A p.Asp314Asp synonymous ADA 5 83420 5.99377E-5 41710 0 5.03525E-4
20-43249693-T-C p.Asp314Gly missense ADA 2 83418 2.39756E-5 41709 0 9.8837E-5
20-43249696-C-T p.Arg313Gln missense ADA 1 83422 1.19872E-5 41711 0 6.25E-4
20-43249697-G-T p.Arg313Arg synonymous ADA 3 83422 3.59617E-5 41711 0 1.23262E-4
20-43249699-T-C p.Lys312Arg missense ADA 1 83424 1.1987E-5 41712 0 8.23642E-6
20-43249702-G-A p.Thr311Ile missense ADA 8 83426 9.58934E-5 41713 0 9.94052E-5
20-43249704-C-T p.Met310Ile missense ADA 7 83430 8.39027E-5 41715 0 1.27372E-4
20-43249707-C-T p.Gln309Gln synonymous ADA 5 83426 5.99334E-5 41713 1 1.40019E-4
20-43249723-A-C p.Leu304Arg missense ADA 1 83424 1.1987E-5 41712 0 7.41278E-5
20-43249728-G-A p.Ser302Ser synonymous ADA 1 83418 1.19878E-5 41709 0 NA
20-43249732-T-C p.Lys301Arg missense ADA 1 83416 1.19881E-5 41708 0 3.1835E-5
20-43249735-A-C p.Phe300Cys missense ADA 6 83418 7.19269E-5 41709 0 6.36193E-5
20-43249743-C-T p.Pro297Pro synonymous ADA 1 83424 1.1987E-5 41712 0 9.55657E-5
20-43249744-G-T p.Pro297Gln missense ADA 8 83422 9.5898E-5 41711 0 3.18451E-5
20-43249761-C-T p.Ser291Ser synonymous ADA 7 83416 8.39168E-5 41708 0 9.55718E-5
20-43249762-G-A p.Ser291Leu missense ADA 1 83418 1.19878E-5 41709 0 6.37064E-5
20-43249770-A-C p.Ala288Ala synonymous ADA 6 83412 7.19321E-5 41706 0 1.91119E-4
20-43249779-A-G p.Ter264Argext*? stop_lost ADA 3 83402 3.59704E-5 41701 0 1.27437E-4
20-43249787-G-A p.Leu283Phe missense+splice_region ADA 1 83386 1.19924E-5 41693 0 1.98821E-5
20-43249793-A-C c.846-5T>G splice_region ADA 1 83358 1.19964E-5 41679 0 NA
20-43249793-A-G c.846-5T>C splice_region ADA 1 83358 1.19964E-5 41679 0 NA
20-43249795-A-C c.846-7T>G splice_region ADA 1 83356 1.19967E-5 41678 0 NA
20-43251230-G-A p.Arg282Trp missense+splice_region ADA 20 83166 2.40483E-4 41583 0 1.63123E-4
20-43251230-G-T p.Arg282Arg splice_region+synonymous ADA 1 83166 1.20241E-5 41583 0 7.95722E-6
20-43251239-C-T p.Ala279Thr missense ADA 1 83180 1.20221E-5 41590 0 NA
20-43251240-A-G p.His278His synonymous ADA 304 83180 0.00365472 41590 4 0.00805639
20-43251243-C-A p.Glu277Asp missense ADA 3 83182 3.60655E-5 41591 0 3.30398E-5
20-43251247-G-A p.Thr276Met missense ADA 3 83182 3.60655E-5 41591 0 1.27315E-4
20-43251252-C-T p.Pro274Pro synonymous ADA 2 83186 2.40425E-5 41593 0 1.81677E-4
20-43251253-G-A p.Pro274Leu missense ADA 3 83188 3.60629E-5 41594 0 6.606E-5
20-43251261-G-T p.Ala271Ala synonymous ADA 1 83174 1.2023E-5 41587 0 NA
20-43251264-A-G p.Gly270Gly synonymous ADA 2 83174 2.4046E-5 41587 0 NA
20-43251280-G-T p.Ser265Tyr missense ADA 1 83160 1.2025E-5 41580 0 NA
20-43251296-G-C c.781-3C>G splice_region ADA 6 83142 7.21657E-5 41571 1 NA
20-43251301-A-T c.781-8T>A splice_region ADA 5 83134 6.01439E-5 41567 0 NA
20-43251463-C-T c.780+7G>A splice_region ADA 39 83250 4.68468E-4 41625 0 2.54793E-4
20-43251464-G-A c.780+6C>T splice_region ADA 1 83244 1.20129E-5 41622 0 2.47101E-5
20-43251466-T-C c.780+4A>G splice_region ADA 2 83254 2.40229E-5 41627 0 7.9526E-6
20-43251473-G-A p.Phe259Phe synonymous ADA 1 83258 1.20109E-5 41629 0 1.64734E-5
20-43251479-C-T p.Met257Ile missense ADA 1 83280 1.20077E-5 41640 0 NA
20-43251480-A-G p.Met257Thr missense ADA 12 83278 1.44096E-4 41639 0 1.07077E-4
20-43251481-T-C p.Met257Val missense ADA 1 83282 1.20074E-5 41641 0 NA
20-43251492-C-T p.Arg253Gln missense ADA 8 83322 9.60131E-5 41661 0 1.91156E-4
20-43251493-G-A p.Arg253Trp missense ADA 4 83308 4.80146E-5 41654 0 3.97621E-5
20-43251499-T-A p.Arg251Trp missense ADA 3 83328 3.60023E-5 41664 0 3.97621E-6
20-43251503-A-G p.Tyr249Tyr synonymous ADA 1 83322 1.20016E-5 41661 0 NA
20-43251508-G-A p.Leu248Phe missense ADA 1 83312 1.20031E-5 41656 0 NA
20-43251510-G-T p.Ala247Asp missense ADA 1 83310 1.20034E-5 41655 0 NA
20-43251511-C-T p.Ala247Thr missense ADA 2 83302 2.4009E-5 41651 0 4.94185E-5
20-43251534-C-T p.Gly239Asp missense ADA 2 83282 2.40148E-5 41641 0 3.97627E-6
20-43251535-C-T p.Gly239Ser missense ADA 1 83288 1.20065E-5 41644 0 0.00125
20-43251536-G-A p.His238His synonymous ADA 4 83294 4.80227E-5 41647 0 9.55353E-5
20-43251549-T-C p.Glu234Gly missense ADA 3 83336 3.59988E-5 41668 0 NA
20-43251562-T-G p.Ile230Leu missense ADA 1 83328 1.20008E-5 41664 0 1.5905E-5
20-43251563-G-T p.Asp229Glu missense ADA 3 83328 3.60023E-5 41664 0 6.75966E-5
20-43251565-C-T p.Asp229Asn missense ADA 1 83332 1.20002E-5 41666 0 1.19287E-5
20-43251565-C-G p.Asp229His missense ADA 1 83332 1.20002E-5 41666 0 8.23642E-6
20-43251566-C-T p.Val228Val synonymous ADA 3 83334 3.59997E-5 41667 0 3.18532E-5
20-43251570-GCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCA-G p.Ala227fs frameshift ADA 8 83340 9.59923E-5 41670 0 NA
20-43251577-G-A c.679-6C>T splice_region ADA 4 83344 4.79939E-5 41672 0 6.36943E-5
20-43251647-C-T c.678+1G>A splice_donor ADA 1 83290 1.20062E-5 41645 0 NA
20-43251653-T-C p.Lys225Glu missense ADA 1 83274 1.20085E-5 41637 0 NA
20-43251654-T-C p.Val224Val synonymous ADA 1 83274 1.20085E-5 41637 0 2.47194E-5
20-43251658-A-C p.Val223Gly missense ADA 1 83276 1.20083E-5 41638 0 NA
20-43251662-C-T p.Glu222Lys missense ADA 10 83266 1.20097E-4 41633 0 0.001875
20-43251663-G-A p.Ala221Ala synonymous ADA 3 83248 3.60369E-5 41624 0 6.37999E-5
20-43251666-C-T p.Ser220Ser synonymous ADA 42 83228 5.04638E-4 41614 0 0.00100705
20-43251667-G-A p.Ser220Leu missense ADA 3 83208 3.60542E-5 41604 0 1.59079E-5
20-43251670-C-G p.Gly219Ala missense ADA 1 83202 1.20189E-5 41601 0 NA
20-43251672-C-A p.Val218Val synonymous ADA 1 83196 1.20198E-5 41598 0 NA
20-43251674-C-G p.Val218Leu missense ADA 1 83174 1.2023E-5 41587 0 8.24661E-6
20-43251680-C-T p.Gly216Arg missense ADA 5 83146 6.01352E-5 41573 0 9.56328E-5
20-43251681-G-A p.Ala215Ala synonymous ADA 10 83116 1.20314E-4 41558 0 1.15492E-4
20-43251683-C-T p.Ala215Thr missense ADA 7 83092 8.4244E-5 41546 0 1.59388E-4
20-43251684-G-A p.His214His synonymous ADA 5 83070 6.01902E-5 41535 0 5.04541E-4
20-43251687-G-A p.Val213Val synonymous ADA 3 83074 3.61124E-5 41537 0 3.30077E-5
20-43251690-A-G p.Thr212Thr synonymous ADA 1 83050 1.20409E-5 41525 0 8.2545E-6
20-43251694-C-T p.Arg211His missense ADA 2 83002 2.40958E-5 41501 0 1.27462E-4
20-43251695-G-A p.Arg211Cys missense ADA 1 82994 1.20491E-5 41497 0 1.27318E-4
20-43251695-G-T p.Arg211Ser missense ADA 1 82994 1.20491E-5 41497 0 NA
20-43251704-C-T p.Gly208Ser missense ADA 2 82852 2.41394E-5 41426 0 6.36684E-5
20-43251705-G-A p.Ser207Ser synonymous ADA 8 82840 9.65717E-5 41420 0 9.56084E-5
20-43251718-T-G p.Glu203Ala missense+splice_region ADA 2 82558 2.42254E-5 41279 0 3.98232E-6
20-43251727-G-A c.607-8C>T splice_region ADA 1 82256 1.21572E-5 41128 0 8.29394E-6
20-43252854-G-A p.Gln199* stop_gained ADA 1 82686 1.20939E-5 41343 0 NA
20-43252858-A-T p.His197Gln missense ADA 33 82704 3.99013E-4 41352 0 3.15776E-4
20-43252871-A-T p.Leu193His missense ADA 6 82826 7.2441E-5 41413 0 1.99898E-5
20-43252871-A-AG p.Leu193fs frameshift ADA 1 82826 1.20735E-5 41413 0 3.1904E-5
20-43252880-C-T p.Gly190Glu missense ADA 4 82906 4.82474E-5 41453 0 3.18796E-5
20-43252897-T-G p.Gly184Gly synonymous ADA 2 83006 2.40946E-5 41503 0 NA
20-43252915-T-C p.Val178Val synonymous ADA 17432 82868 0.210359 41434 2093 0.245968
20-43252918-C-A p.Val177Val synonymous ADA 2 83106 2.40657E-5 41553 0 NA
20-43252920-C-T p.Val177Met missense ADA 2 83102 2.40668E-5 41551 0 1.98916E-5
20-43252921-G-A p.Thr176Thr synonymous ADA 8 83100 9.62696E-5 41550 0 6.76315E-5
20-43252924-C-T p.Gln175Gln synonymous ADA 2 83148 2.40535E-5 41574 0 3.58012E-5
20-43252941-T-C p.Lys170Glu missense ADA 5 83160 6.01251E-5 41580 0 5.03525E-4
20-43252942-A-G p.Cys169Cys synonymous ADA 1 83158 1.20253E-5 41579 0 NA
20-43252945-C-T p.Leu168Leu synonymous ADA 1 83168 1.20239E-5 41584 0 1.64919E-5
20-43252960-G-C p.Pro163Pro synonymous ADA 1 83102 1.20334E-5 41551 0 NA
20-43252971-CT-C c.479-2delA splice_acceptor ADA 1 83050 1.20409E-5 41525 0 NA
20-43252975-G-A c.479-5C>T splice_region ADA 1 83006 1.20473E-5 41503 0 NA
20-43254199-ATCCTAC-A c.478+5_478+10delGTAGGA splice_region ADA 2 81412 2.45664E-5 40706 0 3.19326E-5
20-43254209-C-T c.478+1G>A splice_donor ADA 2 81604 2.45086E-5 40802 0 7.42611E-5
20-43254216-G-C p.Gln158Glu missense ADA 1 81694 1.22408E-5 40847 0 NA
20-43254221-C-T p.Arg156His missense ADA 2 81712 2.44762E-5 40856 0 0.00303337
20-43254222-G-A p.Arg156Cys missense ADA 1 81730 1.22354E-5 40865 0 0.00303337
20-43254234-G-T p.Leu152Met missense ADA 6 81840 7.33138E-5 40920 0 0.0020202
20-43254236-A-G p.Ile151Thr missense ADA 1 81836 1.22196E-5 40918 0 4.74329E-6
20-43254237-T-C p.Ile151Val missense ADA 1 81844 1.22184E-5 40922 0 4.73974E-6
20-43254242-C-T p.Arg149Gln missense ADA 6 81804 7.3346E-5 40902 0 3.18979E-5
20-43254254-C-T p.Gly145Glu missense ADA 6 81818 7.33335E-5 40909 0 9.56816E-5
20-43254255-C-T p.Gly145Arg missense ADA 2 81806 2.44481E-5 40903 0 NA
20-43254256-G-A p.Phe144Phe synonymous ADA 1 81800 1.22249E-5 40900 0 1.19926E-4
20-43254263-C-T p.Arg142Gln missense ADA 141 81774 0.00172426 40887 0 0.00328612
20-43254286-G-A p.Gly134Gly synonymous ADA 37 81606 4.53398E-4 40803 0 0.00252781
20-43254298-C-T p.Val130Val synonymous ADA 3068 81454 0.0376654 40727 63 0.0532696
20-43254301-C-T p.Val129Val synonymous ADA 1 81502 1.22696E-5 40751 0 5.65068E-6
20-43254304-C-T p.Glu128Glu synonymous ADA 18 81512 2.20826E-4 40756 0 5.05561E-4
20-43254306-C-T p.Glu128Lys missense ADA 1 81494 1.22708E-5 40747 0 5.7429E-6
20-43254307-G-A p.Asp127Asp synonymous ADA 6 81466 7.36504E-5 40733 0 4.61037E-5
20-43254311-G-T p.Pro126Gln missense ADA 1 81470 1.22745E-5 40735 0 3.18695E-5
20-43254313-G-C p.Thr125Thr synonymous ADA 7 81470 8.59212E-5 40735 0 8.25219E-5
20-43254320-TC-T p.Asp123fs frameshift ADA 1 81356 1.22917E-5 40678 0 NA
20-43254326-C-T c.363-1G>A splice_acceptor ADA 1 81286 1.23022E-5 40643 0 6.10262E-6
20-43254333-A-C c.363-8T>G splice_region ADA 1 81162 1.2321E-5 40581 0 3.19163E-5
20-43254965-C-A n.548G>T splice_region ADA 2 73988 2.70314E-5 36994 0 3.18715E-5
20-43255091-A-G c.362+6T>C splice_region ADA 1 83124 1.20302E-5 41562 0 NA
20-43255093-T-C c.362+4A>G splice_region ADA 2 83142 2.40552E-5 41571 0 3.1904E-5
20-43255097-T-A p.Glu121Val missense+splice_region ADA 1 83182 1.20218E-5 41591 0 8.24212E-6
20-43255104-G-T p.Gln119Lys missense ADA 1 83218 1.20166E-5 41609 0 3.18715E-5
20-43255110-A-G p.Trp117Arg missense ADA 1 83236 1.2014E-5 41618 0 8.24008E-6
20-43255127-T-C p.Lys111Arg missense ADA 1 83286 1.20068E-5 41643 0 NA
20-43255139-A-G p.Leu107Pro missense ADA 2 83310 2.40067E-5 41655 0 7.41449E-5
20-43255146-G-A p.His105Tyr missense ADA 1 83294 1.20057E-5 41647 0 8.23832E-6
20-43255147-C-T p.Pro104Pro synonymous ADA 1 83290 1.20062E-5 41645 0 1.19309E-5
20-43255157-C-T p.Arg101Gln missense ADA 1 83284 1.20071E-5 41642 0 7.95323E-6
20-43255172-A-G p.Val96Ala missense ADA 2 83316 2.4005E-5 41658 0 8.2371E-6
20-43255173-C-T p.Val96Met missense ADA 2 83318 2.40044E-5 41659 0 NA
20-43255177-G-A p.Gly94Gly synonymous ADA 3 83322 3.60049E-5 41661 0 5.03525E-4
20-43255199-A-G p.Val87Ala missense ADA 1 83316 1.20025E-5 41658 0 1.19294E-5
20-43255208-T-C p.Tyr84Cys missense ADA 4 83292 4.80238E-5 41646 0 8.23764E-6
20-43255211-G-C p.Ala83Gly missense ADA 1 83292 1.2006E-5 41646 0 3.97671E-6
20-43255212-C-T p.Ala83Thr missense ADA 5 83304 6.00211E-5 41652 0 8.2375E-6
20-43255213-G-A p.Ile82Ile synonymous ADA 3 83296 3.60161E-5 41648 0 1.64753E-5
20-43255220-T-C p.Lys80Arg missense ADA 5655 83168 0.0679949 41584 221 0.123867
20-43255232-C-T p.Arg76Gln missense ADA 1 83268 1.20094E-5 41634 0 4.94372E-5
20-43255233-G-A p.Arg76Trp missense ADA 31 83264 3.7231E-4 41632 0 8.28976E-4
20-43255238-C-A p.Gly74Val missense+splice_region ADA 1 83244 1.20129E-5 41622 0 1.59398E-4
20-43257683-C-T c.218+5G>A splice_region ADA 1 83118 1.20311E-5 41559 0 NA
20-43257685-C-T c.218+3G>A splice_region ADA 1 83140 1.20279E-5 41570 0 NA
20-43257688-G-A p.Ala73Val missense+splice_region ADA 1 83184 1.20215E-5 41592 0 3.18451E-5
20-43257690-G-A p.Ile72Ile splice_region+synonymous ADA 2 83208 2.40361E-5 41604 0 3.18451E-5
20-43257696-A-G p.Pro70Pro synonymous ADA 1 83240 1.20135E-5 41620 0 NA
20-43257714-C-T p.Lys64Lys synonymous ADA 4 83302 4.80181E-5 41651 0 6.25E-4
20-43257722-G-A p.Leu62Leu synonymous ADA 1 83322 1.20016E-5 41661 0 NA
20-43257727-T-C p.Asp60Gly missense ADA 2 83320 2.40038E-5 41660 0 6.37308E-5
20-43257742-G-A p.Pro55Leu missense ADA 3 83334 3.59997E-5 41667 0 3.18532E-5
20-43257744-C-T p.Lys54Lys synonymous ADA 256 83318 0.00307257 41659 1 0.00322272
20-43257745-T-C p.Lys54Arg missense ADA 2 83330 2.4001E-5 41665 0 1.98837E-5
20-43257751-A-C p.Met52Arg missense ADA 2 83298 2.40102E-5 41649 0 NA
20-43257760-A-G p.Val49Ala missense ADA 1 83294 1.20057E-5 41647 0 NA
20-43257762-G-A p.Asn48Asn synonymous ADA 1 83294 1.20057E-5 41647 0 1.81348E-4
20-43257765-C-T p.Leu47Leu synonymous ADA 1 83298 1.20051E-5 41649 0 3.18552E-5
20-43257781-G-C p.Thr42Arg missense ADA 1 83284 1.20071E-5 41642 0 8.24593E-6
20-43257796-G-A p.Ala37Val missense ADA 35 83196 4.20693E-4 41598 0 0.00137039
20-43257797-C-T p.Ala37Thr missense ADA 1 83156 1.20256E-5 41578 0 3.97966E-6
20-43257803-C-G p.Gly35Arg missense ADA 2 83164 2.40489E-5 41582 0 7.95938E-6
20-43257807-C-T p.Arg33Arg synonymous ADA 2 83116 2.40628E-5 41558 0 3.98083E-6
20-43257810-C-T p.Arg32Arg splice_region+synonymous ADA 2 83090 2.40703E-5 41545 0 2.47566E-5
20-43257813-G-GCCATAGTATAA c.96-4_96-3insTTATACTATGG splice_region ADA 2 83036 2.40859E-5 41518 1 NA
20-43257814-G-A c.96-4C>T splice_region ADA 1 83010 1.20467E-5 41505 0 6.37146E-5
20-43264714-T-G n.548A>C splice_region ADA 5 69998 7.14306E-5 34999 0 NA
20-43264867-C-A c.95+1G>T splice_donor ADA 1 82602 1.21062E-5 41301 0 NA
20-43264868-C-T p.Arg32Lys missense+splice_region ADA 1 82648 1.20995E-5 41324 0 NA
20-43264874-T-C p.Tyr30Cys missense ADA 2 82692 2.41861E-5 41346 0 6.37471E-5
20-43264877-T-C p.Tyr29Cys missense ADA 1 82680 1.20948E-5 41340 0 1.06888E-5
20-43264901-G-C p.Ser21Cys missense ADA 1 82702 1.20916E-5 41351 0 1.04227E-5
20-43264902-A-C p.Ser21Ala missense ADA 3 82706 3.62731E-5 41353 0 6.37227E-5
20-43264905-C-T p.Gly20Arg missense ADA 2 82698 2.41844E-5 41349 0 NA
20-43264906-G-A p.Asp19Asp synonymous ADA 2 82696 2.4185E-5 41348 0 3.50296E-4
20-43264915-G-A p.Val16Val synonymous ADA 1 82666 1.20969E-5 41333 0 NA
20-43264920-G-C p.His15Asp missense ADA 5 82622 6.05166E-5 41311 0 3.18471E-5
20-43264925-T-TCTACTTTGGGCTTGTCGAAGGCGGGCGTCTGGG p.Ala2_Val12dup conservative_inframe_insertion ADA 2 82538 2.42313E-5 41269 1 NA
20-43264927-C-T p.Val12Val splice_region+synonymous ADA 77988 78540 0.992972 39270 38735 0.999375
20-43264931-T-G c.34-2A>C splice_acceptor ADA 1 82454 1.2128E-5 41227 0 NA
20-43264936-G-C c.34-7C>G splice_region ADA 1 82384 1.21383E-5 41192 0 NA
20-43280215-CT-C p.Val12fs frameshift ADA 1 44596 2.24235E-5 22298 0 NA
20-43280227-C-T p.Asp8Asn missense ADA 2663 44652 0.059639 22326 117 0.1318
20-43280234-G-A p.Pro5Pro synonymous ADA 1 44966 2.2239E-5 22483 0 7.19228E-6
20-43280243-G-A p.Ala2Ala synonymous ADA 1 45150 2.21484E-5 22575 0 5.4146E-4
20-43280350-G-A c.-102C>T 5_prime_UTR_premature_start_codon_gain ADA 1 35118 2.84754E-5 17559 0 NA
20-43280377-G-A c.-129C>T 5_prime_UTR_premature_start_codon_gain ADA 1 31236 3.20143E-5 15618 0 3.26776E-5
20-43280535-G-A n.332+8C>T splice_region ADA 1 12644 7.90889E-5 6322 0 1.27747E-4