Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-3502736-A-G p.Ter180Glnext*? stop_lost ADI1 2 83342 2.39975E-5 41671 0 3.18552E-5
2-3502737-G-C p.Ala179Ala synonymous ADI1 11 83346 1.3198E-4 41673 0 6.61212E-5
2-3502739-C-T p.Ala179Thr missense ADI1 1 83332 1.20002E-5 41666 0 NA
2-3502740-G-A p.Thr178Thr synonymous ADI1 4 83328 4.80031E-5 41664 0 9.55353E-5
2-3502741-G-A p.Thr178Ile missense ADI1 2 83336 2.39992E-5 41668 0 4.77673E-5
2-3502744-T-C p.Gln177Arg missense ADI1 3 83334 3.59997E-5 41667 0 1.99014E-4
2-3502746-T-C p.Ala176Ala synonymous ADI1 1 83336 1.19996E-5 41668 0 3.18329E-5
2-3502748-C-T p.Ala176Thr missense ADI1 1 83340 1.1999E-5 41670 0 NA
2-3502760-C-T p.Val172Met missense ADI1 2 83354 2.3994E-5 41677 0 NA
2-3502769-C-T p.Gly169Arg missense ADI1 5 83352 5.99866E-5 41676 0 3.57992E-5
2-3502770-G-A p.Arg168Arg synonymous ADI1 1 83346 1.19982E-5 41673 0 3.18451E-5
2-3502771-C-T p.Arg168His missense ADI1 3 83350 3.59928E-5 41675 0 3.1841E-5
2-3502773-G-A p.Ala167Ala synonymous ADI1 2 83340 2.39981E-5 41670 0 8.24457E-6
2-3502774-GC-G p.Ala167fs frameshift ADI1 25 83340 2.99976E-4 41670 1 5.41332E-4
2-3502790-C-T p.Ala162Thr missense ADI1 4 83322 4.80065E-5 41661 0 7.41913E-5
2-3502791-G-A p.Pro161Pro synonymous ADI1 2 83338 2.39987E-5 41669 0 4.12201E-5
2-3502793-G-C p.Pro161Ala missense ADI1 1 83344 1.19985E-5 41672 0 8.24334E-6
2-3502793-G-A p.Pro161Ser missense ADI1 2 83344 2.39969E-5 41672 0 2.473E-5
2-3502795-C-T p.Arg160Gln missense ADI1 2 83338 2.39987E-5 41669 0 5.03525E-4
2-3502796-G-A p.Arg160Trp missense ADI1 3 83332 3.60006E-5 41666 0 5.03525E-4
2-3502803-C-T p.Ala157Ala synonymous ADI1 1 83328 1.20008E-5 41664 0 5.77148E-5
2-3502804-G-A p.Ala157Val missense ADI1 28 83338 3.35981E-4 41669 0 1.86943E-4
2-3502810-C-T p.Trp155* stop_gained ADI1 2 83348 2.39958E-5 41674 0 NA
2-3502816-G-T p.Pro153Gln missense ADI1 2 83352 2.39946E-5 41676 0 NA
2-3502816-G-A p.Pro153Leu missense ADI1 1 83352 1.19973E-5 41676 0 2.38743E-5
2-3502820-C-T p.Glu152Lys missense ADI1 50 83348 5.99894E-4 41674 0 5.41332E-4
2-3502826-C-G p.Val150Leu missense ADI1 2 83356 2.39935E-5 41678 0 NA
2-3502826-C-A p.Val150Leu missense ADI1 1 83356 1.19967E-5 41678 0 8.24769E-6
2-3502834-C-T p.Arg147Gln missense ADI1 50 83352 5.99866E-4 41676 1 0.001875
2-3502835-G-A p.Arg147Trp missense ADI1 7 83366 8.39671E-5 41683 0 0.00151057
2-3502836-C-T p.Met146Ile missense ADI1 8 83370 9.59578E-5 41685 0 3.30022E-5
2-3502840-GC-G p.Ala145fs frameshift ADI1 1 83362 1.19959E-5 41681 0 3.1841E-5
2-3502841-C-T p.Ala145Thr missense ADI1 1 83360 1.19962E-5 41680 0 5.03525E-4
2-3502846-G-A p.Thr143Met missense ADI1 1 83352 1.19973E-5 41676 0 3.18492E-5
2-3502847-T-C p.Thr143Ala missense ADI1 1 83354 1.1997E-5 41677 0 3.1841E-5
2-3502849-T-A p.Tyr142Phe missense ADI1 1 83344 1.19985E-5 41672 0 5.03525E-4
2-3504356-C-T p.Gln77Gln splice_region+synonymous ADI1 359 65708 0.00546357 32854 4 0.011559
2-3504362-A-G p.Gly75Gly synonymous ADI1 3 66450 4.51467E-5 33225 0 NA
2-3504364-C-G p.Gly75Arg missense ADI1 1 66902 1.49472E-5 33451 0 NA
2-3504370-C-T p.Asp73Asn missense ADI1 1 67604 1.4792E-5 33802 0 2.80096E-5
2-3504385-C-T p.Val68Met missense ADI1 2 70130 2.85185E-5 35065 0 NA
2-3504386-G-A p.Ser67Ser synonymous ADI1 1 70464 1.41916E-5 35232 0 6.36902E-5
2-3504393-GC-G p.Ala65fs frameshift ADI1 2 71542 2.79556E-5 35771 0 NA
2-3504398-G-A p.Ser63Ser synonymous ADI1 2 72296 2.7664E-5 36148 0 6.36943E-5
2-3504415-C-T p.Gly58Ser missense ADI1 1 74672 1.33919E-5 37336 0 3.1835E-5
2-3504418-G-A p.Arg57* stop_gained ADI1 2 75084 2.66368E-5 37542 0 NA
2-3504418-G-C p.Arg57Gly missense ADI1 1 75084 1.33184E-5 37542 0 NA
2-3504424-C-T p.Asp55Asn missense ADI1 4 75660 5.28681E-5 37830 0 5.66038E-4
2-3504425-G-A p.Gly54Gly synonymous ADI1 5 75748 6.60083E-5 37874 0 3.1841E-5
2-3504428-T-A p.Ala53Ala synonymous ADI1 3 76132 3.94052E-5 38066 0 NA
2-3504430-C-T p.Ala53Thr missense ADI1 15 76216 1.96809E-4 38108 0 1.6909E-4
2-3504431-G-A p.Ala52Ala synonymous ADI1 251 76308 0.0032893 38154 1 0.00464879
2-3504446-C-A p.Arg47Ser missense ADI1 2 77722 2.57327E-5 38861 0 6.71285E-6
2-3504450-G-A p.Ser46Leu missense ADI1 3 77868 3.85267E-5 38934 0 3.1837E-5
2-3504453-G-T p.Ala45Asp missense ADI1 3 78052 3.84359E-5 39026 0 6.48938E-6
2-3504461-C-T p.Ser42Ser synonymous ADI1 2 78516 2.54725E-5 39258 0 1.23294E-5
2-3504462-G-A p.Ser42Leu missense ADI1 5 78810 6.34437E-5 39405 0 1.77911E-5
2-3504464-G-A p.Ser41Ser synonymous ADI1 1 78996 1.26589E-5 39498 0 1.16402E-5
2-3504469-C-G p.Asp40His missense ADI1 1 79188 1.26282E-5 39594 0 1.03391E-4
2-3504471-C-T p.Arg39Gln missense ADI1 8 79320 1.00857E-4 39660 0 1.98354E-4
2-3504472-G-A p.Arg39Trp missense ADI1 148 79392 0.00186417 39696 1 0.00363345
2-3504475-C-G p.Ala38Pro missense ADI1 5 79546 6.28567E-5 39773 0 2.60734E-4
2-3504477-C-T p.Trp37* stop_gained ADI1 1 79718 1.25442E-5 39859 0 8.25491E-5
2-3504481-G-A p.Arg36Cys missense ADI1 186 79792 0.00233106 39896 1 0.00615684
2-3504484-C-T p.Gly35Ser missense ADI1 11 80060 1.37397E-4 40030 0 2.22859E-4
2-3504485-G-A p.Arg34Arg synonymous ADI1 2 80122 2.49619E-5 40061 0 3.06504E-5
2-3504489-T-C p.Lys33Arg missense ADI1 1 80468 1.24273E-5 40234 0 2.49725E-5
2-3504490-T-C p.Lys33Glu missense ADI1 2 80544 2.48311E-5 40272 0 NA
2-3504495-T-C p.Asp31Gly missense ADI1 1 80622 1.24036E-5 40311 0 NA
2-3504499-C-A p.Ala30Ser missense ADI1 3 80818 3.71204E-5 40409 0 4.33806E-6
2-3504500-G-A p.Ser29Ser synonymous ADI1 3 80962 3.70544E-5 40481 0 6.36902E-5
2-3504506-C-T p.Ala27Ala synonymous ADI1 3 81222 3.69358E-5 40611 0 7.96864E-5
2-3504508-C-T p.Ala27Thr missense ADI1 1 81284 1.23025E-5 40642 0 6.68606E-5
2-3504509-G-A p.Cys26Cys synonymous ADI1 1 81312 1.22983E-5 40656 0 5.67698E-5
2-3504512-G-A p.Asn25Asn synonymous ADI1 2 81512 2.45363E-5 40756 0 1.29477E-5
2-3504516-A-G p.Leu24Pro missense ADI1 8 81624 9.80104E-5 40812 0 3.50826E-4
2-3504518-C-T p.Pro23Pro synonymous ADI1 9 81612 1.10278E-4 40806 0 6.25E-4
2-3504518-C-A p.Pro23Pro synonymous ADI1 1 81612 1.22531E-5 40806 0 1.18011E-5
2-3504519-G-A p.Pro23Leu missense ADI1 8 81688 9.79336E-5 40844 0 6.37064E-5
2-3504521-C-G p.Leu22Leu synonymous ADI1 2 81754 2.44636E-5 40877 0 NA
2-3504533-G-A p.Ala18Ala synonymous ADI1 35 82014 4.26756E-4 41007 0 5.41505E-4
2-3504537-A-G p.Leu17Pro missense ADI1 2 82230 2.4322E-5 41115 0 9.27368E-6
2-3504542-C-T p.Val15Val synonymous ADI1 1 82320 1.21477E-5 41160 0 NA
2-3504548-A-G p.Cys13Cys synonymous ADI1 1065 82378 0.0129282 41189 15 0.0209083
2-3504554-C-T p.Pro11Pro synonymous ADI1 3 82456 3.6383E-5 41228 0 3.18573E-5
2-3504555-G-A p.Pro11Leu missense ADI1 189 82502 0.00229085 41251 2 0.00554879
2-3504556-G-T p.Pro11Thr missense ADI1 1 82532 1.21165E-5 41266 0 NA
2-3504564-G-A p.Ser8Phe missense ADI1 1 82636 1.21013E-5 41318 0 NA
2-3504590-C-T p.Glu139Lys missense ADI1 3 83000 3.61446E-5 41500 0 5.84375E-5
2-3504591-G-A p.Asp138Asp synonymous ADI1 1 83014 1.20462E-5 41507 0 3.98765E-6
2-3504597-C-T p.Thr136Thr synonymous ADI1 6 83120 7.21848E-5 41560 0 2.57728E-4
2-3504598-G-A p.Thr136Met missense ADI1 48 83124 5.77451E-4 41562 0 2.22958E-4
2-3504604-C-T p.Arg134His missense ADI1 12 83166 1.4429E-4 41583 0 9.95239E-5
2-3504606-G-C p.His133Gln missense ADI1 3 83202 3.60568E-5 41601 0 3.31444E-5
2-3504615-C-A p.Gly130Gly synonymous ADI1 227 83250 0.00272673 41625 2 0.0115811
2-3504618-C-G p.Ala129Ala synonymous ADI1 1 83274 1.20085E-5 41637 0 NA
2-3504619-G-A p.Ala129Val missense ADI1 15 83270 1.80137E-4 41635 0 5.28882E-4
2-3504620-C-T p.Ala129Thr missense ADI1 2 83280 2.40154E-5 41640 0 3.97858E-5
2-3504621-G-A p.Pro128Pro synonymous ADI1 2 83292 2.40119E-5 41646 0 5.78226E-5
2-3504627-C-T p.Thr126Thr synonymous ADI1 3 83308 3.60109E-5 41654 0 5.96744E-5
2-3504628-G-A p.Thr126Met missense ADI1 1 83326 1.20011E-5 41663 0 4.12712E-5
2-3504630-C-T p.Val125Val synonymous ADI1 1 83342 1.19988E-5 41671 0 3.18492E-5
2-3504631-A-G p.Val125Ala missense ADI1 1 83344 1.19985E-5 41672 0 NA
2-3504635-T-C p.Met124Val missense ADI1 10 83360 1.19962E-4 41680 0 7.55708E-5
2-3504642-C-T p.Lys121Lys synonymous ADI1 1 83368 1.1995E-5 41684 0 8.24742E-6
2-3504650-T-C p.Met119Val missense ADI1 1 83372 1.19944E-5 41686 0 7.95456E-6
2-3504657-C-G p.Arg116Arg synonymous ADI1 2 83378 2.39871E-5 41689 0 1.19316E-5
2-3504659-G-A p.Arg116Trp missense ADI1 3 83374 3.59824E-5 41687 0 1.98869E-5
2-3504660-G-T p.Ile115Ile synonymous ADI1 1 83372 1.19944E-5 41686 0 NA
2-3504670-T-C p.Asp112Gly missense ADI1 7 83370 8.39631E-5 41685 0 7.74951E-4
2-3504672-C-T p.Glu111Glu synonymous ADI1 6 83378 7.19614E-5 41689 0 5.03525E-4
2-3504679-T-G p.Asp109Ala missense ADI1 101 83382 0.00121129 41691 0 0.00191083
2-3504686-CA-AG p.AspVal106AspLeu missense ADI1 1 83384 1.19927E-5 41692 0 NA
2-3504687-A-G p.Asp106Asp synonymous ADI1 35986 83106 0.433013 41553 8600 0.490937
2-3504690-G-A p.Phe105Phe synonymous ADI1 3 83378 3.59807E-5 41689 0 6.25E-4
2-3504707-C-T p.Asp100Asn missense ADI1 3 83370 3.59842E-5 41685 0 NA
2-3504719-G-A p.Arg96Cys missense ADI1 26 83350 3.11938E-4 41675 0 4.45917E-4
2-3504720-G-A p.Ile95Ile synonymous ADI1 12 83350 1.43971E-4 41675 0 4.14145E-4
2-3504727-T-C p.Asp93Gly missense ADI1 1 83350 1.19976E-5 41675 0 NA
2-3504729-G-A p.Asp92Asp synonymous ADI1 1 83328 1.20008E-5 41664 0 5.03525E-4
2-3504733-A-C p.Leu91Trp missense ADI1 1 83328 1.20008E-5 41664 0 NA
2-3504733-A-T p.Leu91* stop_gained ADI1 1 83328 1.20008E-5 41664 0 NA
2-3504750-G-A p.Tyr85Tyr synonymous ADI1 3 83256 3.60334E-5 41628 0 1.46031E-4
2-3504765-C-G c.241-1G>C splice_acceptor ADI1 1 83152 1.20262E-5 41576 0 NA
2-3504765-C-CTTTTCTTCATAATTTGG c.241-2_241-1insCCAAATTATGAAGAAAA splice_acceptor ADI1 6 83152 7.2157E-5 41576 3 NA
2-3504766-T-TTTTCTTCATAATTTGGTAGTTTATCTTTGCATATGGTTATGATGTCCATCCAGG c.241-3_241-2insCCTGGATGGACATCATAACCATATGCAAAGATAAACTACCAAATTATGAAGAAA splice_region ADI1 4 83126 4.81197E-5 41563 2 NA
2-3504768-G-C c.241-4C>G splice_region ADI1 1 83100 1.20337E-5 41550 0 4.41716E-6
2-3517623-C-T c.240+5G>A splice_region ADI1 2 83060 2.4079E-5 41530 0 NA
2-3517642-T-G p.Asn76His missense ADI1 1 83108 1.20325E-5 41554 0 NA
2-3517653-T-C p.Asp72Gly missense ADI1 2 83104 2.40662E-5 41552 0 8.2464E-6
2-3517654-C-T p.Asp72Asn missense ADI1 31 83100 3.73045E-4 41550 0 0.0020141
2-3517665-G-A p.Thr68Ile missense ADI1 1 83128 1.20296E-5 41564 0 4.03541E-6
2-3517666-T-C p.Thr68Ala missense ADI1 36 83122 4.33098E-4 41561 1 0.00185558
2-3517678-T-C p.Met64Val missense ADI1 1 83130 1.20294E-5 41565 0 5.03525E-4
2-3517688-G-T p.Asn60Lys missense ADI1 1 83138 1.20282E-5 41569 0 1.64921E-5
2-3517691-CCT-C p.Arg59fs frameshift ADI1 1 83144 1.20273E-5 41572 0 NA
2-3517696-C-G p.Glu58Gln missense ADI1 1 83156 1.20256E-5 41578 0 8.24851E-6
2-3517701-C-T p.Arg56Gln missense ADI1 1 83160 1.2025E-5 41580 0 6.36983E-5
2-3517702-G-A p.Arg56* stop_gained ADI1 4 83150 4.81058E-5 41575 0 6.37227E-5
2-3517712-T-TA p.Leu52fs frameshift ADI1 1 83158 1.20253E-5 41579 0 NA
2-3517715-T-C p.Glu51Glu synonymous ADI1 1 83158 1.20253E-5 41579 0 8.25941E-6
2-3517729-C-T p.Glu47Lys missense ADI1 1 83146 1.2027E-5 41573 0 3.18492E-5
2-3517731-T-C p.Tyr46Cys missense ADI1 1 83146 1.2027E-5 41573 0 NA
2-3517734-T-C p.Lys45Arg missense ADI1 1 83126 1.20299E-5 41563 0 1.65906E-5
2-3517740-G-A p.Ala43Val missense ADI1 1 83092 1.20349E-5 41546 0 1.2527E-5
2-3517751-A-C c.121-4T>G splice_region ADI1 690 83110 0.00830225 41555 14 0.0161465
2-3518572-T-C c.102+7A>G splice_region ADI1 1 77204 1.29527E-5 38602 0 NA
2-3518577-A-C c.102+2T>G splice_donor ADI1 1 77222 1.29497E-5 38611 0 NA
2-3518585-A-T p.Cys32* stop_gained ADI1 1 77188 1.29554E-5 38594 0 NA
2-3518592-C-T p.Gly30Glu missense ADI1 5 77222 6.47484E-5 38611 0 3.38501E-5
2-3518597-G-A p.Asn28Asn synonymous ADI1 1 77212 1.29514E-5 38606 0 NA
2-3518603-G-A p.Ser26Ser synonymous ADI1 1 77260 1.29433E-5 38630 0 NA
2-3518607-G-A p.Thr25Ile missense ADI1 1 77244 1.2946E-5 38622 0 NA
2-3518611-G-A p.Leu24Leu synonymous ADI1 1 77218 1.29503E-5 38609 0 NA
2-3518615-C-A p.Gly22Gly synonymous ADI1 1 77142 1.29631E-5 38571 0 1.35717E-5
2-3518619-G-A p.Ser21Leu missense ADI1 92 77062 0.00119384 38531 0 0.00289754
2-3518624-G-A p.Leu19Leu synonymous ADI1 73 77034 9.47634E-4 38517 4 0.0174426
2-3518626-G-C p.Leu19Val missense ADI1 2 77018 2.5968E-5 38509 0 NA
2-3518631-C-T p.Arg17Gln missense ADI1 3 76852 3.90361E-5 38426 0 1.29971E-4
2-3518632-G-A p.Arg17Trp missense ADI1 27 76784 3.51636E-4 38392 0 6.25E-4
2-3518633-G-C p.Ser16Arg missense ADI1 7 76736 9.12219E-5 38368 0 9.54988E-5
2-3518634-C-A p.Ser16Ile missense ADI1 2 76718 2.60695E-5 38359 0 3.18329E-5
2-3518634-C-T p.Ser16Asn missense ADI1 3 76718 3.91043E-5 38359 0 NA
2-3518636-G-A p.Ser15Ser synonymous ADI1 1 76656 1.30453E-5 38328 0 NA
2-3518639-GC-G p.Gly14fs frameshift ADI1 1 76532 1.30664E-5 38266 0 NA
2-3518643-T-C p.His13Arg missense ADI1 14924 74634 0.199962 37317 1336 0.221624
2-3518649-A-C p.Leu11Arg missense ADI1 3 76006 3.94706E-5 38003 0 NA
2-3518654-C-A p.Met9Ile missense ADI1 1 75608 1.32261E-5 37804 0 3.1841E-5
2-3518655-A-G p.Met9Thr missense ADI1 4 75558 5.29395E-5 37779 0 6.32911E-4
2-3518662-T-C p.Lys7Glu missense ADI1 1 75132 1.33099E-5 37566 0 2.8765E-5
2-3518674-C-T p.Val3Met missense ADI1 2 73956 2.70431E-5 36978 0 6.47175E-5
2-3518675-G-A p.Ser2Ser synonymous ADI1 2 73856 2.70797E-5 36928 0 3.1837E-5
2-3518751-G-A c.-71C>T 5_prime_UTR_premature_start_codon_gain ADI1 54 54198 9.96347E-4 27099 0 7.32391E-4
2-3518783-C-T c.-103G>A 5_prime_UTR_premature_start_codon_gain ADI1 6 42186 1.42227E-4 21093 0 4.77585E-4
2-3519065-G-C c.-385C>G 5_prime_UTR_premature_start_codon_gain ADI1 1 128 0.0078125 64 0 0.0181076
2-3519433-C-A c.-753G>T 5_prime_UTR_premature_start_codon_gain ADI1 1 5538 1.80571E-4 2769 0 3.20164E-5
2-3519527-C-T c.-847G>A 5_prime_UTR_premature_start_codon_gain ADI1 52 17158 0.00303066 8579 0 0.00463834
2-3519528-G-A c.-848C>T 5_prime_UTR_premature_start_codon_gain ADI1 1 17338 5.76768E-5 8669 0 6.36983E-5
2-3519537-G-A c.-857C>T 5_prime_UTR_premature_start_codon_gain ADI1 1 18772 5.32708E-5 9386 0 NA
2-3519554-C-A c.-874G>T 5_prime_UTR_premature_start_codon_gain ADI1 1 20326 4.91981E-5 10163 0 NA
2-3519572-A-C c.-892T>G 5_prime_UTR_premature_start_codon_gain ADI1 3598 8602 0.418275 4301 58 0.721821
2-3519615-G-A c.-935C>T 5_prime_UTR_premature_start_codon_gain ADI1 1 23950 4.17537E-5 11975 0 NA
2-3519707-T-C c.-1027A>G 5_prime_UTR_premature_start_codon_gain ADI1 190 24378 0.00779391 12189 2 0.0163684
2-3519739-C-A c.-1059G>T 5_prime_UTR_premature_start_codon_gain ADI1 4637 24280 0.19098 12140 439 0.178656
2-3519792-T-C c.-1112A>G 5_prime_UTR_premature_start_codon_gain ADI1 1 24384 4.10105E-5 12192 0 NA
2-3519833-C-T c.-1153G>A 5_prime_UTR_premature_start_codon_gain ADI1 2 24294 8.23249E-5 12147 0 6.37064E-5
2-3519834-G-A c.-1154C>T 5_prime_UTR_premature_start_codon_gain ADI1 12 24308 4.93665E-4 12154 0 6.68619E-4
2-3519855-G-A c.-1175C>T 5_prime_UTR_premature_start_codon_gain ADI1 3 24210 1.23916E-4 12105 0 1.59297E-4
2-3519875-A-C c.-1195T>G 5_prime_UTR_premature_start_codon_gain ADI1 1 23956 4.17432E-5 11978 0 NA
2-3519912-G-C c.-1232C>G 5_prime_UTR_premature_start_codon_gain ADI1 2 21798 9.17515E-5 10899 0 NA
2-3519940-T-C c.-1260A>G 5_prime_UTR_premature_start_codon_gain ADI1 2 18458 1.08354E-4 9229 0 1.91546E-4
2-3519948-T-C c.-1268A>G 5_prime_UTR_premature_start_codon_gain ADI1 1 16964 5.89484E-5 8482 0 NA
2-3520029-G-C c.-1349C>G 5_prime_UTR_premature_start_codon_gain ADI1 1 7742 1.29166E-4 3871 0 6.38407E-5
2-3520313-T-G c.-1633A>C 5_prime_UTR_premature_start_codon_gain ADI1 1 11196 8.93176E-5 5598 0 NA
2-3520524-A-G c.-1844T>C 5_prime_UTR_premature_start_codon_gain ADI1 2 24404 8.19538E-5 12202 0 6.37024E-5
2-3520532-T-C c.-1852A>G 5_prime_UTR_premature_start_codon_gain ADI1 7 24404 2.86838E-4 12202 0 1.91022E-4
2-3520608-C-T c.-1928G>A 5_prime_UTR_premature_start_codon_gain ADI1 10 24412 4.09635E-4 12206 1 3.1837E-5
2-3520647-T-C c.-1967A>G 5_prime_UTR_premature_start_codon_gain ADI1 1 24408 4.09702E-5 12204 0 NA
2-3520649-T-C c.-1969A>G 5_prime_UTR_premature_start_codon_gain ADI1 4 24406 1.63894E-4 12203 0 3.18837E-5
2-3520651-T-C c.-1971A>G 5_prime_UTR_premature_start_codon_gain ADI1 1 24406 4.09735E-5 12203 0 NA
2-3520874-T-C c.-2194A>G 5_prime_UTR_premature_start_codon_gain ADI1 6 14830 4.04585E-4 7415 0 6.05713E-4
2-3520884-G-C c.-2204C>G 5_prime_UTR_premature_start_codon_gain ADI1 1 13594 7.35619E-5 6797 0 NA
2-3523134-C-G c.120+5G>C splice_region ADI1 1 45818 2.18255E-5 22909 0 NA
2-3523157-G-T p.Leu34Leu synonymous ADI1 20 48328 4.13839E-4 24164 0 0.00385039
2-3523160-C-T p.Arg33Arg synonymous ADI1 1 48782 2.04994E-5 24391 0 4.40529E-5
2-3523166-C-G p.Leu31Leu synonymous ADI1 2 49634 4.0295E-5 24817 0 NA
2-3523173-T-C p.Glu29Gly missense ADI1 1 50652 1.97426E-5 25326 0 NA
2-3523174-C-T p.Glu29Lys missense ADI1 2 50978 3.92326E-5 25489 0 3.41064E-4
2-3523179-C-G p.Gly27Ala missense ADI1 25 51104 4.89198E-4 25552 0 0.00115031
2-3523192-C-G p.Gly23Arg missense ADI1 1 51752 1.93229E-5 25876 0 NA
2-3523198-C-T p.Asp21Asn missense ADI1 1 52272 1.91307E-5 26136 0 NA
2-3523202-G-T p.Arg19Arg synonymous ADI1 2 53060 3.76932E-5 26530 0 NA
2-3523202-G-A p.Arg19Arg synonymous ADI1 2 53060 3.76932E-5 26530 0 NA
2-3523205-G-A p.His18His synonymous ADI1 2 53494 3.73874E-5 26747 0 NA
2-3523207-G-T p.His18Asn missense ADI1 1 53712 1.86178E-5 26856 0 NA
2-3523207-GGGGTTGCCGC-G p.Arg15fs frameshift ADI1 3 53714 5.58514E-5 26857 0 NA
2-3523219-G-C p.Pro14Ala missense ADI1 2 54880 3.64431E-5 27440 0 9.57304E-5
2-3523226-C-T p.Pro11Pro synonymous ADI1 1 54946 1.81997E-5 27473 0 NA
2-3523231-C-A p.Ala10Ser missense ADI1 1 54956 1.81964E-5 27478 0 NA
2-3523244-C-G p.Trp5Cys missense ADI1 1 56280 1.77683E-5 28140 0 NA
2-3523247-G-A p.Ala4Ala synonymous ADI1 1 56084 1.78304E-5 28042 0 3.19366E-5
2-3523252-G-C p.Gln3Glu missense ADI1 42 55574 7.55749E-4 27787 1 0.00417616
2-3523271-G-A c.-13C>T 5_prime_UTR_premature_start_codon_gain ADI1 19 51984 3.65497E-4 25992 0 0.00162752
2-3523309-C-A c.-51G>T 5_prime_UTR_premature_start_codon_gain ADI1 3 45328 6.61843E-5 22664 0 NA
2-3523313-G-A c.-55C>T 5_prime_UTR_premature_start_codon_gain ADI1 1 44498 2.24729E-5 22249 0 NA
2-3523339-G-A c.-81C>T 5_prime_UTR_premature_start_codon_gain ADI1 3 39476 7.59955E-5 19738 0 6.3857E-4
2-3523377-G-C c.-119C>G 5_prime_UTR_premature_start_codon_gain ADI1 2 34382 5.817E-5 17191 0 NA
2-3523444-C-A c.-186G>T 5_prime_UTR_premature_start_codon_gain ADI1 3165 19872 0.159269 9936 39 0.174799