Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-11312895-A-T c.-12-2A>T splice_acceptor AMELX 1 82912 1.2061E-5 41456 0 NA
X-11312898-A-G c.-11A>G splice_region AMELX 2 82910 2.41225E-5 41455 1 5.45158E-6
X-11312913-G-C p.Gly2Ala missense AMELX 5 82958 6.02715E-5 41479 1 NA
X-11312916-C-A p.Thr3Asn missense AMELX 3 82976 3.6155E-5 41488 0 4.58547E-5
X-11312919-G-A p.Trp4* stop_gained AMELX 2 82984 2.4101E-5 41492 1 NA
X-11312926-A-G p.Leu6Leu synonymous AMELX 2 83000 2.40964E-5 41500 1 2.27905E-5
X-11312942-G-A p.Gly12Arg missense AMELX 1 82998 1.20485E-5 41499 0 NA
X-11312948-G-A p.Ala14Thr missense AMELX 2 83000 2.40964E-5 41500 1 NA
X-11314903-C-A p.Pro20Gln missense AMELX 1 82884 1.20651E-5 41442 0 9.19287E-5
X-11314905-C-T p.Pro21Ser missense AMELX 2 82940 2.41138E-5 41470 1 6.88705E-4
X-11314915-G-T p.Gly24Val missense AMELX 1 83012 1.20465E-5 41506 0 2.28467E-5
X-11314922-T-A p.Pro26Pro synonymous AMELX 1 83092 1.20349E-5 41546 0 NA
X-11314922-T-G p.Pro26Pro synonymous AMELX 3 83092 3.61046E-5 41546 1 1.83832E-4
X-11314943-T-C p.Tyr33Tyr synonymous AMELX 1 83124 1.20302E-5 41562 0 NA
X-11316221-A-G c.103-2A>G splice_acceptor AMELX 2 82834 2.41447E-5 41417 1 NA
X-11316223-A-C p.Asn35His missense+splice_region AMELX 1 82892 1.20639E-5 41446 0 NA
X-11316245-A-G p.Asn42Ser missense AMELX 1 83052 1.20406E-5 41526 0 4.54422E-5
X-11316269-G-T c.144+5G>T splice_region AMELX 1 83120 1.20308E-5 41560 0 4.54773E-5
X-11316384-G-A p.Ser28Asn missense AMELX 1 83100 1.20337E-5 41550 0 4.56048E-5
X-11316396-C-T p.Pro32Leu missense+splice_region AMELX 1 83080 1.20366E-5 41540 0 4.60214E-5
X-11316672-C-T p.Pro34Leu missense AMELX 1 82882 1.20653E-5 41441 0 4.62449E-5
X-11316682-T-C p.Gly37Gly synonymous AMELX 1 82930 1.20584E-5 41465 0 NA
X-11316685-C-T p.Tyr38Tyr synonymous AMELX 2 82940 2.41138E-5 41470 1 3.42099E-5
X-11316694-G-A p.Met41Ile missense AMELX 5 82958 6.02715E-5 41479 2 2.726E-5
X-11316703-G-A p.Trp44* stop_gained AMELX 1 82934 1.20578E-5 41467 0 NA
X-11316705-T-C p.Leu45Pro missense AMELX 3 82934 3.61733E-5 41467 1 9.31142E-5
X-11316720-T-A p.Ile50Asn missense AMELX 2 82858 2.41377E-5 41429 1 NA
X-11316725-G-A p.Val52Met missense AMELX 5 82834 6.03617E-5 41417 2 4.55924E-5
X-11316739-G-A p.Gln56Gln synonymous AMELX 1 82774 1.20811E-5 41387 0 4.55877E-5
X-11316741-A-AC p.Thr60fs frameshift AMELX 3 82656 3.6295E-5 41328 0 NA
X-11316742-C-T p.His57His synonymous AMELX 17667 82384 0.214447 41192 5409 0.292203
X-11316742-C-A p.His57Gln missense AMELX 3 82808 3.62284E-5 41404 0 1.09134E-5
X-11316747-CG-TT p.Pro59Leu missense AMELX 1 82780 1.20802E-5 41390 0 NA
X-11316747-C-T p.Pro59Leu missense AMELX 7 82780 8.45615E-5 41390 2 0.00125
X-11316748-G-A p.Pro59Pro synonymous AMELX 2 82748 2.41698E-5 41374 0 2.05126E-4
X-11316748-G-T p.Pro59Pro synonymous AMELX 3 82748 3.62547E-5 41374 1 4.73171E-5
X-11316778-C-T p.Ile69Ile synonymous AMELX 1 82790 1.20788E-5 41395 0 1.13945E-5
X-11316793-T-C p.Ala74Ala synonymous AMELX 2 82724 2.41768E-5 41362 0 NA
X-11316802-C-T p.Pro77Pro synonymous AMELX 9 82656 1.08885E-4 41328 1 1.48128E-4
X-11316803-G-A p.Val78Met missense AMELX 2 82648 2.4199E-5 41324 1 6.83659E-5
X-11316807-T-TC p.Gln81fs frameshift AMELX 2 82612 2.42096E-5 41306 1 NA
X-11316821-A-G p.Met84Val missense AMELX 1 82692 1.20931E-5 41346 0 1.13942E-5
X-11316829-C-T p.Pro86Pro synonymous AMELX 1 82604 1.2106E-5 41302 0 1.6348E-5
X-11316830-G-A p.Val87Ile missense AMELX 6 82612 7.26287E-5 41306 1 7.08412E-5
X-11316840-A-C p.Gln90Pro missense AMELX 1 82530 1.21168E-5 41265 0 NA
X-11316844-C-G p.His91Gln missense AMELX 2 82496 2.42436E-5 41248 1 NA
X-11316859-C-A p.Ile96Ile synonymous AMELX 2 82332 2.42919E-5 41166 0 1.79905E-4
X-11316866-C-T p.His99Tyr missense AMELX 4 82250 4.86322E-5 41125 1 1.36822E-4
X-11316885-C-T p.Pro105Leu missense AMELX 7 82090 8.52723E-5 41045 3 1.63862E-5
X-11316886-G-A p.Pro105Pro synonymous AMELX 3 81936 3.66139E-5 40968 1 4.927E-5
X-11316887-C-T p.Pro106Ser missense AMELX 4 82072 4.87377E-5 41036 2 2.29453E-5
X-11316889-C-T p.Pro106Pro synonymous AMELX 72 82046 8.77557E-4 41023 15 0.00206469
X-11316892-C-T p.Ala107Ala synonymous AMELX 3 82046 3.65649E-5 41023 0 6.77836E-4
X-11316902-T-TA p.Tyr111fs frameshift AMELX 1 81950 1.22026E-5 40975 0 NA
X-11316910-C-A p.Pro113Pro synonymous AMELX 2 82064 2.43712E-5 41032 0 1.64267E-5
X-11316927-A-C p.Gln119Pro missense AMELX 2 81966 2.44004E-5 40983 1 1.1682E-5
X-11316938-C-G p.Pro123Ala missense AMELX 4 81934 4.88198E-5 40967 1 2.7465E-5
X-11316942-T-G p.Met124Arg missense AMELX 10 81868 1.22148E-4 40934 2 1.0565E-4
X-11316947-C-T p.Pro126Ser missense AMELX 1 81880 1.2213E-5 40940 0 NA
X-11316959-G-T p.Val130Leu missense AMELX 159 81702 0.0019461 40851 38 0.00367887
X-11316974-C-T p.Pro135Ser missense AMELX 2 81800 2.44499E-5 40900 1 NA
X-11316980-C-A p.Pro137Thr missense AMELX 4 81872 4.88568E-5 40936 2 3.60014E-5
X-11316982-G-A p.Pro137Pro synonymous AMELX 2 81832 2.44403E-5 40916 1 1.20343E-5
X-11316994-T-C p.Pro141Pro synonymous AMELX 1 82014 1.2193E-5 41007 0 1.20318E-5
X-11316997-G-A p.Leu142Leu synonymous AMELX 93 82034 0.00113368 41017 22 0.00101168
X-11317002-C-T p.Pro144Leu missense AMELX 2 82120 2.43546E-5 41060 1 2.41377E-5
X-11317008-T-TC p.Met148fs frameshift AMELX 1 82154 1.21723E-5 41077 0 NA
X-11317045-G-C p.Leu158Leu synonymous AMELX 2 82108 2.43582E-5 41054 1 NA
X-11317062-C-A p.Pro164Gln missense AMELX 4 81960 4.88043E-5 40980 2 4.60511E-5
X-11317083-G-A p.Arg171Gln missense AMELX 2 81554 2.45236E-5 40777 0 1.12475E-5
X-11317091-G-A p.Val174Met missense+splice_region AMELX 2 81276 2.46075E-5 40638 1 NA
X-11317093-G-C p.Val174Val splice_region+synonymous AMELX 3 81212 3.69404E-5 40606 1 2.28071E-4