Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-16899209-T-C p.Leu166Leu synonymous AGR3 2 80940 2.47097E-5 40470 0 3.18634E-5
7-16899218-C-G p.Gln163His missense AGR3 1 80912 1.23591E-5 40456 0 NA
7-16899222-A-G p.Ile162Thr missense AGR3 2 80926 2.47139E-5 40463 0 6.37308E-5
7-16899233-T-C p.Ala158Ala synonymous AGR3 1 80910 1.23594E-5 40455 0 NA
7-16899235-C-G p.Ala158Pro missense AGR3 1 80894 1.23619E-5 40447 0 4.63534E-6
7-16899244-T-C p.Met155Val missense AGR3 1 80746 1.23845E-5 40373 0 3.43348E-5
7-16899252-A-G p.Ile152Thr missense AGR3 2 80458 2.48577E-5 40229 0 3.18756E-5
7-16899254-C-T p.Leu151Leu splice_region+synonymous AGR3 1 80398 1.24381E-5 40199 0 9.91237E-6
7-16900083-T-C p.Ter164Trpext*? stop_lost AGR3 20 81372 2.45785E-4 40686 0 0.00127228
7-16900086-G-T p.Ser163Arg missense AGR3 2 81606 2.4508E-5 40803 0 NA
7-16900089-A-G p.His162His synonymous AGR3 1 81682 1.22426E-5 40841 0 3.18492E-5
7-16900093-C-G p.Gly161Ala missense AGR3 1 81944 1.22035E-5 40972 0 NA
7-16900104-G-A p.Ile157Ile synonymous AGR3 1 82352 1.2143E-5 41176 0 NA
7-16900109-T-C p.Met156Val missense AGR3 1 82500 1.21212E-5 41250 0 1.59193E-5
7-16900120-T-C p.Lys152Arg missense AGR3 8 82742 9.66861E-5 41371 0 1.27389E-4
7-16900122-A-AC p.Cys151fs frameshift AGR3 1 82732 1.20872E-5 41366 0 3.9789E-6
7-16900123-C-A c.451+1G>T splice_donor AGR3 3 82770 3.6245E-5 41385 0 1.59357E-4
7-16900136-C-G p.Asp147His missense AGR3 1 82962 1.20537E-5 41481 0 NA
7-16900138-C-T p.Arg146Gln missense AGR3 5 82948 6.02787E-5 41474 0 1.59155E-5
7-16900139-G-A p.Arg146Trp missense AGR3 1 82976 1.20517E-5 41488 0 8.24063E-6
7-16900143-C-A p.Glu144Asp missense AGR3 1 83026 1.20444E-5 41513 0 NA
7-16900148-A-G p.Tyr143His missense AGR3 1 83046 1.20415E-5 41523 0 NA
7-16900154-A-G p.Tyr141His missense AGR3 2 83064 2.40778E-5 41532 0 NA
7-16900157-A-G p.Leu140Leu synonymous AGR3 2 83064 2.40778E-5 41532 0 1.64807E-5
7-16900164-A-G p.Ser137Ser synonymous AGR3 2 83084 2.4072E-5 41542 0 NA
7-16900177-G-A p.Ala133Val missense AGR3 1 83092 1.20349E-5 41546 0 1.64859E-5
7-16900187-C-A p.Ala130Ser missense AGR3 2 83090 2.40703E-5 41545 0 7.97086E-6
7-16900195-G-C p.Thr127Arg missense AGR3 14 83080 1.68512E-4 41540 0 0.00125
7-16900201-G-C p.Ser125Cys missense AGR3 1 83042 1.20421E-5 41521 0 NA
7-16900213-A-G c.368-6T>C splice_region AGR3 9 82932 1.08523E-4 41466 0 1.59215E-4
7-16901000-A-T c.367+8T>A splice_region AGR3 1 82340 1.21448E-5 41170 0 NA
7-16901006-A-G c.367+2T>C splice_donor AGR3 1 82428 1.21318E-5 41214 0 3.18512E-5
7-16901009-T-A p.Val122Val splice_region+synonymous AGR3 1 82470 1.21256E-5 41235 0 4.04505E-6
7-16901011-C-A p.Val122Leu missense AGR3 4 82504 4.84825E-5 41252 0 2.47525E-5
7-16901011-C-G p.Val122Leu missense AGR3 2 82504 2.42412E-5 41252 0 3.18776E-5
7-16901011-C-T p.Val122Ile missense AGR3 1 82504 1.21206E-5 41252 0 3.18776E-5
7-16901017-T-C p.Met120Val missense AGR3 1 82550 1.21139E-5 41275 0 3.18593E-5
7-16901028-A-C p.Val116Gly missense AGR3 3 82636 3.63038E-5 41318 0 3.29908E-5
7-16901032-A-G p.Tyr115His missense AGR3 1 82612 1.21048E-5 41306 0 4.01168E-6
7-16901035-G-A p.Gln114* stop_gained AGR3 5 82642 6.05019E-5 41321 0 8.08234E-4
7-16901035-G-T p.Gln114Lys missense AGR3 1 82642 1.21004E-5 41321 0 4.01297E-6
7-16901038-C-T p.Gly113Arg missense AGR3 1 82650 1.20992E-5 41325 0 NA
7-16901041-C-T p.Asp112Asn missense AGR3 3 82656 3.6295E-5 41328 0 NA
7-16901057-A-T p.Asp106Glu missense AGR3 2 82574 2.42207E-5 41287 0 3.18634E-5
7-16901057-ATCAGTGGTT-A p.Glu103_Thr105del disruptive_inframe_deletion AGR3 2 82574 2.42207E-5 41287 0 3.18634E-5
7-16901059-C-A p.Asp106Tyr missense AGR3 4 82582 4.84367E-5 41291 0 0.00100705
7-16901060-A-T p.Thr105Thr synonymous AGR3 1 82554 1.21133E-5 41277 0 1.20464E-5
7-16901062-T-C p.Thr105Ala missense AGR3 2 82542 2.42301E-5 41271 0 6.25E-4
7-16901064-G-A p.Thr104Ile missense AGR3 1 82508 1.212E-5 41254 0 4.01742E-6
7-16901072-C-T c.304-1G>A splice_acceptor AGR3 6 82430 7.2789E-5 41215 0 1.27714E-4
7-16901075-G-A c.304-4C>T splice_region AGR3 11 82416 1.33469E-4 41208 0 9.58099E-5
7-16901079-G-A c.304-8C>T splice_region AGR3 1 82306 1.21498E-5 41153 0 NA
7-16901601-T-TATGTACCATAA c.303+6_303+7insTTATGGTACAT splice_region AGR3 4 82488 4.84919E-5 41244 0 1.2088E-5
7-16901606-A-G c.303+2T>C splice_donor AGR3 3 82586 3.63258E-5 41293 0 1.28246E-4
7-16901609-A-G p.Met101Thr missense+splice_region AGR3 14 82620 1.6945E-4 41310 1 3.22266E-4
7-16901613-G-A p.Leu100Phe missense AGR3 2 82704 2.41826E-5 41352 0 8.25982E-6
7-16901622-T-C p.Met97Val missense AGR3 1 82798 1.20776E-5 41399 0 0.00100705
7-16901649-G-T p.Gln88Lys missense AGR3 2 82906 2.41237E-5 41453 0 NA
7-16901655-C-T p.Glu86Lys missense AGR3 1 82880 1.20656E-5 41440 0 NA
7-16901659-A-T p.Asn84Lys missense AGR3 1 82912 1.2061E-5 41456 0 1.65085E-5
7-16901683-T-C p.Ala76Ala splice_region+synonymous AGR3 1 82762 1.20828E-5 41381 0 7.97296E-6
7-16901684-G-A p.Ala76Val missense+splice_region AGR3 3 82744 3.62564E-5 41372 0 NA
7-16901685-C-T c.227-1G>A splice_acceptor AGR3 112 82732 0.00135377 41366 0 0.003125
7-16901687-A-G c.227-3T>C splice_region AGR3 3 82666 3.62906E-5 41333 0 3.19061E-5
7-16902233-C-T c.226+1G>A splice_donor AGR3 11 79270 1.38766E-4 39635 0 1.59939E-4
7-16902239-G-C p.Ser74Cys missense AGR3 3 79768 3.76091E-5 39884 0 NA
7-16902241-G-A p.Tyr73Tyr synonymous AGR3 2 79884 2.50363E-5 39942 0 NA
7-16902250-A-G p.Asp70Asp synonymous AGR3 1 80250 1.24611E-5 40125 0 1.16025E-4
7-16902262-A-G p.His66His synonymous AGR3 15 80466 1.86414E-4 40233 0 5.29262E-4
7-16902266-A-G p.Ile65Thr missense AGR3 1 80508 1.24211E-5 40254 0 NA
7-16902271-C-A p.Met63Ile missense AGR3 104 80654 0.00128946 40327 1 0.00252781
7-16902272-A-G p.Met63Thr missense AGR3 1 80682 1.23943E-5 40341 0 4.9961E-6
7-16902279-G-A p.Pro61Ser missense AGR3 1 80768 1.23811E-5 40384 0 NA
7-16902280-C-T p.Lys60Lys synonymous AGR3 1 80772 1.23805E-5 40386 0 NA
7-16902285-T-C p.Lys59Glu missense+splice_region AGR3 1 80772 1.23805E-5 40386 0 NA
7-16902293-A-T c.174-7T>A splice_region AGR3 22 80664 2.72736E-4 40332 0 1.60442E-4
7-16913397-A-G c.173+7T>C splice_region AGR3 1 81676 1.22435E-5 40838 0 NA
7-16913398-T-C c.173+6A>G splice_region AGR3 7 81712 8.56667E-5 40856 0 3.18492E-5
7-16913402-A-C c.173+2T>G splice_donor AGR3 1 81818 1.22222E-5 40909 0 1.19628E-5
7-16913404-CT-C p.Ser58fs frameshift AGR3 1 81854 1.22169E-5 40927 0 NA
7-16913414-C-T p.Ala55Thr missense AGR3 1 81952 1.22023E-5 40976 0 NA
7-16913425-C-G p.Gly51Ala missense AGR3 1 82060 1.21862E-5 41030 0 1.59327E-4
7-16913443-A-C p.Val45Gly missense AGR3 1 82064 1.21856E-5 41032 0 NA
7-16913450-T-A p.Thr43Ser missense AGR3 1 82028 1.2191E-5 41014 0 3.98524E-6
7-16913456-C-G p.Asp41His missense AGR3 2 81986 2.43944E-5 40993 0 2.48176E-5
7-16913457-A-G p.Asp40Asp synonymous AGR3 1528 81884 0.0186605 40942 83 0.0415366
7-16913463-C-G p.Trp38Cys missense AGR3 1 81870 1.22145E-5 40935 0 8.27979E-6
7-16913467-C-A p.Gly37Val missense+splice_region AGR3 7 81824 8.55495E-5 40912 0 8.28185E-6
7-16913470-GA-G c.110-4delT splice_region AGR3 8 81738 9.78737E-5 40869 0 6.36943E-5
7-16913475-A-G c.110-8T>C splice_region AGR3 1 81638 1.22492E-5 40819 0 3.99607E-6
7-16918131-C-A c.109+3G>T splice_region AGR3 1 82894 1.20636E-5 41447 0 NA
7-16918134-C-T p.Gly37Arg missense+splice_region AGR3 2 82946 2.41121E-5 41473 0 NA
7-16918147-C-G p.Gln32His missense AGR3 3 83008 3.61411E-5 41504 0 5.03525E-4
7-16918164-C-T p.Glu27Lys missense AGR3 1 83114 1.20317E-5 41557 0 8.24525E-6
7-16918178-A-G p.Ile22Thr missense AGR3 1 83120 1.20308E-5 41560 0 3.18634E-5
7-16918183-A-G p.Leu20Leu synonymous AGR3 2 83136 2.4057E-5 41568 0 9.88989E-5
7-16918187-T-G p.Asn19Thr missense AGR3 1 83138 1.20282E-5 41569 0 NA
7-16918195-A-G p.Val16Val synonymous AGR3 2 83142 2.40552E-5 41571 0 0.00151057
7-16918197-C-G p.Val16Leu missense AGR3 4 83134 4.81151E-5 41567 0 1.19348E-4
7-16918202-A-G p.Val14Ala missense AGR3 1 83128 1.20296E-5 41564 0 NA
7-16918204-G-A p.Leu13Leu synonymous AGR3 1 83118 1.20311E-5 41559 0 1.64842E-5
7-16918214-C-T p.Cys10Tyr missense AGR3 1 83104 1.20331E-5 41552 0 2.4728E-5
7-16918220-C-T p.Gly8Asp missense AGR3 2 83074 2.40749E-5 41537 0 5.77053E-5
7-16918221-C-A p.Gly8Cys missense AGR3 3 83080 3.61098E-5 41540 0 8.24389E-6
7-16918222-C-G p.Leu7Phe missense AGR3 1 83084 1.2036E-5 41542 0 NA
7-16918227-C-T p.Ala6Thr missense AGR3 3 83072 3.61133E-5 41536 0 6.37024E-5
7-16918228-T-C p.Ser5Ser synonymous AGR3 2 83072 2.40755E-5 41536 0 7.96242E-6
7-16918241-A-C p.Met1? start_lost AGR3 3 83038 3.6128E-5 41519 0 8.25287E-6
7-16918242-T-A p.Met1? initiator_codon AGR3 2 83026 2.40888E-5 41513 0 NA
7-16918269-G-T c.-27C>A splice_region AGR3 1 82726 1.20881E-5 41363 0 3.1841E-5
7-16921596-T-G p.Thr5Thr synonymous AGR3 1 55678 1.79604E-5 27839 0 NA