Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-33772377-A-G p.Leu283Pro missense A3GALT2 2 38736 5.16316E-5 19368 0 3.20123E-5
1-33772384-G-A p.Arg281Trp missense A3GALT2 4 39394 1.01538E-4 19697 0 6.90417E-5
1-33772385-G-GTACCCC p.Gly279_Tyr280insTerGly stop_gained A3GALT2 2 39474 5.06663E-5 19737 0 6.57505E-5
1-33772428-GCCCGCGGGCCGATGTC-G p.Asp261fs frameshift A3GALT2 5 41578 1.20256E-4 20789 0 4.34141E-5
1-33772432-G-C p.Arg265Gly missense A3GALT2 1 41718 2.39705E-5 20859 0 1.1542E-4
1-33772438-C-G p.Gly263Arg missense A3GALT2 1 42222 2.36843E-5 21111 0 1.01348E-5
1-33772438-C-T p.Gly263Ser missense A3GALT2 2 42222 4.73687E-5 21111 0 3.20636E-5
1-33772448-G-T p.Ser259Arg missense A3GALT2 6 43078 1.39282E-4 21539 0 8.80282E-5
1-33772461-TC-T p.Glu255fs frameshift A3GALT2 1 43574 2.29495E-5 21787 0 NA
1-33772463-G-C p.Pro254Pro synonymous A3GALT2 1 43744 2.28603E-5 21872 0 8.94454E-6
1-33772483-G-C p.Pro248Ala missense A3GALT2 2 44310 4.51365E-5 22155 0 2.29008E-4
1-33772489-GC-AA p.LeuHis245LeuTyr missense A3GALT2 1 44294 2.25764E-5 22147 0 NA
1-33772494-CAGA-C p.Phe243del disruptive_inframe_deletion A3GALT2 12 44206 2.71456E-4 22103 0 0.00103765
1-33772494-C-G p.Trp244Ser missense A3GALT2 1 44206 2.26214E-5 22103 0 8.24063E-6
1-33772530-C-G p.Arg232Pro missense A3GALT2 5 42324 1.18136E-4 21162 0 3.20246E-5
1-33772532-C-T p.Ala231Ala synonymous A3GALT2 2 42214 4.73776E-5 21107 0 NA
1-33772542-CCG-C p.Gly228fs frameshift A3GALT2 4 41798 9.56984E-5 20899 0 6.72275E-5
1-33772550-G-A p.Arg225Arg synonymous A3GALT2 1 41368 2.41733E-5 20684 0 9.89374E-6
1-33772555-C-T p.Asp224Asn missense A3GALT2 41 41376 9.90913E-4 20688 1 0.00112985
1-33772561-C-G p.Asp222His missense A3GALT2 1 41256 2.42389E-5 20628 0 NA
1-33772568-C-CCCCGCACAGTGCGCCGTCAG p.Gly220fs frameshift A3GALT2 2 40984 4.87995E-5 20492 0 2.56016E-4
1-33772570-C-G p.Gly219Arg missense A3GALT2 1 40966 2.44105E-5 20483 0 NA
1-33772571-C-T p.Ala218Ala synonymous A3GALT2 1 40896 2.44523E-5 20448 0 1.2164E-5
1-33772571-C-A p.Ala218Ala synonymous A3GALT2 3 40896 7.33568E-5 20448 0 1.08719E-4
1-33772576-A-T p.Cys217Ser missense A3GALT2 2 40504 4.93778E-5 20252 0 1.39809E-5
1-33772578-T-TGCGCCGTCAGCCCGCGCA p.Leu210_Ala215dup conservative_inframe_insertion A3GALT2 2 40486 4.93998E-5 20243 0 NA
1-33772580-C-T p.Ala215Ala synonymous A3GALT2 5 40446 1.23622E-4 20223 0 1.40924E-5
1-33772586-C-G p.Leu213Leu synonymous A3GALT2 13 40472 3.2121E-4 20236 0 6.86577E-4
1-33772589-C-T p.Gly212Gly synonymous A3GALT2 3 40286 7.44676E-5 20143 0 9.60246E-5
1-33772596-A-G p.Leu210Pro missense A3GALT2 2 40132 4.98355E-5 20066 0 6.40123E-5
1-33772606-C-G p.Val207Leu missense A3GALT2 1 39926 2.50463E-5 19963 0 NA
1-33772622-C-G p.Ala201Ala synonymous A3GALT2 1 39894 2.50664E-5 19947 0 3.20225E-5
1-33772623-G-A p.Ala201Val missense A3GALT2 15 39848 3.7643E-4 19924 0 0.00198603
1-33772637-G-T p.Phe196Leu missense A3GALT2 1 39954 2.50288E-5 19977 0 NA
1-33772641-T-C p.Asp195Gly missense A3GALT2 1 39862 2.50865E-5 19931 0 NA
1-33772670-C-T p.Ser185Ser synonymous A3GALT2 1 40092 2.49426E-5 20046 0 9.85028E-5
1-33772671-G-T p.Ser185* stop_gained A3GALT2 4 40108 9.97307E-5 20054 0 0.00125
1-33772676-C-A p.Ala183Ala synonymous A3GALT2 2 40098 4.98778E-5 20049 0 6.14941E-5
1-33772687-C-T p.Glu180Lys missense A3GALT2 1 40300 2.48139E-5 20150 0 NA
1-33772697-C-A p.Leu176Leu synonymous A3GALT2 1 40680 2.45821E-5 20340 0 NA
1-33772704-G-A p.Ser174Leu missense A3GALT2 1 40904 2.44475E-5 20452 0 6.25E-4
1-33772717-A-G p.Tyr170His missense A3GALT2 1 41544 2.40709E-5 20772 0 7.6884E-6
1-33772724-G-C p.Ser167Ser synonymous A3GALT2 1 41862 2.3888E-5 20931 0 NA
1-33772739-C-T p.Val162Val synonymous A3GALT2 1 42350 2.36128E-5 21175 0 NA
1-33772741-C-T p.Val162Met missense A3GALT2 5 42476 1.17714E-4 21238 0 NA
1-33772742-C-CG p.Val162fs frameshift A3GALT2 2 42482 4.70788E-5 21241 0 3.20307E-5
1-33772747-C-T p.Glu160Lys missense A3GALT2 2 42774 4.67574E-5 21387 0 3.26256E-5
1-33772757-C-G p.Glu156Asp missense A3GALT2 1 42998 2.32569E-5 21499 0 1.2767E-5
1-33772761-G-A p.Pro155Leu missense A3GALT2 1 43044 2.3232E-5 21522 0 NA
1-33772771-T-C p.Thr152Ala missense A3GALT2 1 43252 2.31203E-5 21626 0 4.1165E-4
1-33772774-C-T p.Gly151Ser missense A3GALT2 1 43326 2.30808E-5 21663 0 1.53077E-4
1-33772778-G-T p.Phe149Leu missense A3GALT2 1 43410 2.30362E-5 21705 0 6.25E-4
1-33772782-T-G p.His148Pro missense A3GALT2 1 43394 2.30447E-5 21697 0 2.64554E-5
1-33772792-C-T p.Val145Met missense A3GALT2 265 43336 0.00611501 21668 1 0.00976467
1-33772793-G-C p.Asp144Glu missense A3GALT2 120 43302 0.00277123 21651 1 0.00420373
1-33772796-C-CA p.Met143fs frameshift A3GALT2 1 43334 2.30766E-5 21667 0 4.95197E-5
1-33772797-A-G p.Met143Thr missense A3GALT2 56 43292 0.00129354 21646 0 7.88488E-4
1-33772799-G-T p.Cys142* stop_gained A3GALT2 91 43194 0.00210677 21597 1 0.00739312
1-33772802-G-A p.Phe141Phe synonymous A3GALT2 9 43158 2.08536E-4 21579 0 0.00123713
1-33772804-A-C p.Phe141Val missense A3GALT2 1 43024 2.32428E-5 21512 0 NA
1-33772807-T-C p.Met140Val missense A3GALT2 23 42866 5.36556E-4 21433 0 6.25E-4
1-33772817-C-T p.Glu136Glu synonymous A3GALT2 3 42008 7.1415E-5 21004 0 3.22497E-5
1-33772818-T-G p.Glu136Ala missense A3GALT2 1 41938 2.38447E-5 20969 0 5.90737E-5
1-33772826-C-G p.Pro133Pro synonymous A3GALT2 1 41550 2.40674E-5 20775 0 1.30907E-4
1-33772827-G-A p.Pro133Leu missense A3GALT2 2 41486 4.8209E-5 20743 0 9.60929E-6
1-33772828-G-A p.Pro133Ser missense A3GALT2 1 41396 2.41569E-5 20698 0 9.65493E-6
1-33772833-C-T p.Gly131Glu missense A3GALT2 6 41220 1.4556E-4 20610 0 6.77245E-4
1-33772834-C-T p.Gly131Arg missense A3GALT2 2 41148 4.8605E-5 20574 0 7.51202E-5
1-33772838-C-T p.Leu129Leu synonymous A3GALT2 1 41166 2.42919E-5 20583 0 NA
1-33772842-G-A p.Ala128Val missense A3GALT2 1 40830 2.44918E-5 20415 0 NA
1-33772847-G-C p.His126Gln missense A3GALT2 3 40556 7.39718E-5 20278 0 9.68179E-5
1-33772853-C-T p.Thr124Thr synonymous A3GALT2 2 40454 4.94389E-5 20227 0 8.04376E-5
1-33772867-C-G p.Ala120Pro missense A3GALT2 1 40098 2.49389E-5 20049 0 NA
1-33772873-A-C p.Ser118Ala missense A3GALT2 1 39964 2.50225E-5 19982 0 NA
1-33772875-A-C p.Val117Gly missense A3GALT2 1 39910 2.50564E-5 19955 0 1.2089E-4
1-33772877-G-A p.Asp116Asp synonymous A3GALT2 2 40116 4.98554E-5 20058 0 3.23206E-5
1-33772878-T-C p.Asp116Gly missense A3GALT2 4 40020 9.995E-5 20010 0 NA
1-33772879-C-T p.Asp116Asn missense A3GALT2 2 40020 4.9975E-5 20010 0 2.26655E-4
1-33772880-T-C p.Gln115Gln synonymous A3GALT2 19 39950 4.75594E-4 19975 0 0.00100317
1-33772882-G-C p.Gln115Glu missense A3GALT2 1 40216 2.48657E-5 20108 0 NA
1-33772885-A-C p.Trp114Gly missense A3GALT2 2 39960 5.00501E-5 19980 0 NA
1-33772885-AGCGCCGCTCGC-A p.Arg110fs frameshift A3GALT2 1 39960 2.5025E-5 19980 0 NA
1-33772893-T-TCGCGCGCCA p.Val108_Arg110dup conservative_inframe_insertion A3GALT2 2 39388 5.07769E-5 19694 0 NA
1-33772895-G-C p.Arg110Arg synonymous A3GALT2 1 39278 2.54595E-5 19639 0 NA
1-33772899-G-GCCACGCGCT p.Glu106_Val108dup conservative_inframe_insertion A3GALT2 1 39470 2.53357E-5 19735 0 4.63714E-5
1-33772902-A-T p.Val108Glu missense A3GALT2 4 39542 1.01158E-4 19771 0 NA
1-33772903-C-A p.Val108Leu missense A3GALT2 1 39526 2.52998E-5 19763 0 3.23981E-5
1-33772906-G-C p.Arg107Gly missense A3GALT2 1 39436 2.53575E-5 19718 0 3.24065E-5
1-33772907-C-T p.Glu106Glu synonymous A3GALT2 2 39726 5.03449E-5 19863 0 3.29402E-5
1-33772907-C-A p.Glu106Asp missense A3GALT2 1 39726 2.51724E-5 19863 0 NA
1-33772910-C-T p.Val105Val synonymous A3GALT2 9 39648 2.26998E-4 19824 0 7.44823E-4
1-33772912-C-G p.Val105Leu missense A3GALT2 13 39598 3.28299E-4 19799 0 6.17913E-5
1-33772917-A-C p.Leu103Arg missense A3GALT2 1 39520 2.53036E-5 19760 0 NA
1-33772917-A-G p.Leu103Pro missense A3GALT2 4 39520 1.01215E-4 19760 0 2.47752E-5
1-33772920-C-T p.Arg102Gln missense A3GALT2 6 39584 1.51576E-4 19792 0 6.42824E-4
1-33772924-G-C p.Arg101Gly missense A3GALT2 90 39512 0.00227779 19756 1 0.0025
1-33772928-C-A p.Pro99Pro synonymous A3GALT2 1 39642 2.52258E-5 19821 0 NA
1-33772935-A-G p.Leu97Pro missense A3GALT2 2 39778 5.0279E-5 19889 0 6.15407E-6
1-33772937-C-T p.Ala96Ala synonymous A3GALT2 8 39830 2.00854E-4 19915 0 8.43116E-4
1-33772937-CG-C p.Ala96fs frameshift A3GALT2 1 39830 2.51067E-5 19915 0 NA
1-33772945-G-T p.Arg94Ser missense A3GALT2 1 39974 2.50163E-5 19987 0 NA
1-33772946-G-A p.Pro93Pro synonymous A3GALT2 1 40032 2.498E-5 20016 0 9.5095E-6
1-33772975-C-T p.Val84Met missense A3GALT2 2 40244 4.96968E-5 20122 0 3.23897E-5
1-33772975-C-G p.Val84Leu missense A3GALT2 1 40244 2.48484E-5 20122 0 NA
1-33772987-C-T p.Val80Met missense A3GALT2 1 40164 2.48979E-5 20082 0 1.84027E-5
1-33772995-C-A p.Gly77Val missense A3GALT2 1 40268 2.48336E-5 20134 0 NA
1-33772996-C-G p.Gly77Arg missense A3GALT2 1 40332 2.47942E-5 20166 0 3.23729E-5
1-33773001-A-G p.Met75Thr missense A3GALT2 1 40370 2.47709E-5 20185 0 NA
1-33773009-C-A p.Gln72His missense A3GALT2 69 40256 0.00171403 20128 1 0.00180341
1-33773016-G-A p.Ala70Val missense A3GALT2 68 40086 0.00169635 20043 0 0.00421203
1-33773018-C-G p.Thr69Thr synonymous A3GALT2 1 40076 2.49526E-5 20038 0 NA
1-33773019-G-T p.Thr69Lys missense A3GALT2 7 40040 1.74825E-4 20020 0 1.61791E-4
1-33773025-A-G p.Leu67Pro missense A3GALT2 2 39952 5.00601E-5 19976 0 1.85487E-5
1-33773032-G-C p.Arg65Gly missense A3GALT2 2 39622 5.0477E-5 19811 0 NA
1-33773032-G-GCTCCAGGTACTT p.Glu64_Arg65insLysTyrLeuGlu conservative_inframe_insertion A3GALT2 1 39622 2.52385E-5 19811 0 3.24275E-5
1-33773035-C-A p.Glu64* stop_gained A3GALT2 1 39620 2.52398E-5 19810 0 9.37154E-6
1-33777656-C-T p.Gly56Asp missense A3GALT2 3 79620 3.7679E-5 39810 0 4.06904E-6
1-33777660-C-A p.Val55Leu missense A3GALT2 3 79622 3.7678E-5 39811 0 9.56267E-5
1-33777669-TAGTC-T p.Thr51fs frameshift A3GALT2 1434 79628 0.0180087 39814 11 0.0153374
1-33777669-T-C p.Ile52Val missense A3GALT2 1 79644 1.25559E-5 39822 0 4.06683E-6
1-33777674-AG-CC p.Leu50Gly missense A3GALT2 142 79650 0.0017828 39825 1 NA
1-33777674-A-C p.Leu50Arg missense A3GALT2 9 79650 1.12994E-4 39825 0 0.00307592
1-33777675-G-C p.Leu50Val missense A3GALT2 9 79662 1.12977E-4 39831 0 0.0029963
1-33777678-C-T p.Gly49Arg missense A3GALT2 1 79658 1.25537E-5 39829 0 5.28683E-5
1-33777680-A-G p.Ile48Thr missense A3GALT2 4 79662 5.02121E-5 39831 0 3.18471E-5
1-33777681-T-C p.Ile48Val missense A3GALT2 8 79674 1.00409E-4 39837 0 2.38152E-4
1-33777683-G-A p.Thr47Ile missense A3GALT2 1 79660 1.25534E-5 39830 0 NA
1-33777696-G-A p.Gln43* stop_gained A3GALT2 3 79690 3.76459E-5 39845 0 8.13736E-6
1-33777702-C-T p.Ala41Thr missense A3GALT2 1 79708 1.25458E-5 39854 0 NA
1-33777717-C-T p.Val36Met missense A3GALT2 1 79680 1.25502E-5 39840 0 NA
1-33777725-T-C p.Asp33Gly missense A3GALT2 8 79656 1.00432E-4 39828 0 8.57824E-6
1-33777726-C-T p.Asp33Asn missense A3GALT2 262 79640 0.0032898 39820 2 0.00780255
1-33777731-G-A p.Ser31Phe missense A3GALT2 3 79660 3.76601E-5 39830 0 NA
1-33777749-G-A p.Pro25Leu missense A3GALT2 3 79580 3.76979E-5 39790 0 3.18431E-5
1-33777753-C-T p.Ala24Thr missense A3GALT2 8 79532 1.00588E-4 39766 0 1.34766E-4
1-33777753-C-A p.Ala24Ser missense A3GALT2 1 79532 1.25736E-5 39766 0 NA
1-33777756-C-T p.Gly23Arg missense A3GALT2 17 79534 2.13745E-4 39767 0 1.59226E-4
1-33777758-CA-C p.Trp22fs frameshift A3GALT2 2 79536 2.51458E-5 39768 0 3.18431E-5
1-33777761-G-A p.Pro21Leu missense A3GALT2 1 79538 1.25726E-5 39769 0 NA
1-33777766-A-G p.Cys19Cys synonymous A3GALT2 1 79472 1.2583E-5 39736 0 4.08307E-6
1-33777776-A-C p.Val16Gly missense A3GALT2 2 79412 2.51851E-5 39706 0 1.23233E-4
1-33777777-C-T p.Val16Ile missense A3GALT2 3 79398 3.77843E-5 39699 0 3.18471E-5
1-33777785-C-T p.Arg13Gln missense A3GALT2 2 79236 2.52411E-5 39618 0 1.77844E-5
1-33777786-G-A p.Arg13Trp missense A3GALT2 1 79204 1.26256E-5 39602 0 1.91131E-4
1-33777794-G-C p.Ala10Gly missense A3GALT2 1 79074 1.26464E-5 39537 0 2.05211E-5
1-33777797-A-G p.Leu9Pro missense A3GALT2 1 79030 1.26534E-5 39515 0 4.10489E-6
1-33778108-C-T p.Arg64His missense A3GALT2 7 76974 9.09398E-5 38487 0 6.25E-4
1-33778108-C-A p.Arg64Leu missense A3GALT2 7 76970 9.09445E-5 38485 0 6.37918E-5
1-33778117-C-T p.Gly61Asp missense A3GALT2 1 77466 1.29089E-5 38733 0 NA
1-33778137-C-T p.Gln54Gln synonymous A3GALT2 3 77820 3.85505E-5 38910 0 NA
1-33778140-G-A p.Ser53Ser synonymous A3GALT2 40 77876 5.13637E-4 38938 0 0.00152964
1-33778143-C-T p.Met52Ile missense A3GALT2 59 77868 7.57692E-4 38934 0 0.00154566
1-33778144-A-G p.Met52Thr missense A3GALT2 1 77930 1.2832E-5 38965 0 1.25594E-5
1-33778152-C-T p.Ser49Ser synonymous A3GALT2 4 77824 5.1398E-5 38912 0 6.11418E-5
1-33778153-G-A p.Ser49Leu missense A3GALT2 220 77946 0.00282247 38973 0 0.00430128
1-33778155-A-C p.Pro48Pro synonymous A3GALT2 1 77994 1.28215E-5 38997 0 NA
1-33778157-G-C p.Pro48Ala missense A3GALT2 1 78010 1.28189E-5 39005 0 NA
1-33778158-G-A p.Cys47Cys synonymous A3GALT2 2 77984 2.56463E-5 38992 0 3.18654E-5
1-33778163-C-T p.Val46Ile missense A3GALT2 37 77828 4.75407E-4 38914 1 2.18749E-4
1-33778164-G-A p.Gly45Gly synonymous A3GALT2 13 77868 1.66949E-4 38934 0 2.86825E-4
1-33778167-C-T p.Met44Ile missense A3GALT2 5 77924 6.41651E-5 38962 0 4.37836E-5
1-33778178-G-A p.Leu41Phe missense A3GALT2 134 77864 0.00172095 38932 0 0.00528831
1-33778188-A-T p.His37Gln missense A3GALT2 1 77720 1.28667E-5 38860 0 4.43841E-6
1-33778190-G-T p.His37Asn missense+splice_region A3GALT2 7 77654 9.01435E-5 38827 0 7.60906E-5
1-33778191-C-A p.Arg36Ser missense+splice_region A3GALT2 2 77648 2.57573E-5 38824 0 2.2362E-5
1-33778194-G-A c.108-3C>T splice_region A3GALT2 1 77608 1.28853E-5 38804 0 1.76588E-5
1-33778421-G-T p.Leu32Ile missense A3GALT2 6 78898 7.60476E-5 39449 0 3.18552E-4
1-33778443-G-A p.Leu24Leu synonymous A3GALT2 1 78818 1.26875E-5 39409 0 NA
1-33778468-C-T p.Arg16Gln missense A3GALT2 2 78692 2.54155E-5 39346 0 1.40004E-4
1-33778469-G-A p.Arg16Trp missense A3GALT2 6 78692 7.62466E-5 39346 0 6.22626E-5
1-33778472-A-G p.Trp15Arg missense A3GALT2 1 78724 1.27026E-5 39362 0 NA
1-33778474-A-G p.Phe14Ser missense A3GALT2 1 78702 1.27062E-5 39351 0 4.31995E-6
1-33778486-C-G p.Trp10Ser missense A3GALT2 2 78590 2.54485E-5 39295 0 NA
1-33778499-C-T c.24-8G>A splice_region A3GALT2 6 78328 7.6601E-5 39164 0 1.91314E-4
1-33786671-C-T c.23+6G>A splice_region A3GALT2 2 78624 2.54375E-5 39312 0 NA
1-33786678-T-C p.Arg8Gly missense+splice_region A3GALT2 1 78622 1.27191E-5 39311 0 2.0299E-5
1-33786686-T-C p.Glu5Gly missense A3GALT2 2 78620 2.54388E-5 39310 0 NA
1-33786687-CCTT-C p.Lys4del conservative_inframe_deletion A3GALT2 1 78654 1.27139E-5 39327 0 3.19142E-5
1-33786688-C-T p.Lys4Lys synonymous A3GALT2 2 78642 2.54317E-5 39321 0 8.29311E-6