Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-74449541-G-A c.-899G>A 5_prime_UTR_premature_start_codon_gain AANAT 3 3016 9.94695E-4 1508 0 0.00398902
17-74449546-C-T c.-894C>T 5_prime_UTR_premature_start_codon_gain AANAT 1 2998 3.33556E-4 1499 0 1.92629E-4
17-74449757-C-T c.-683C>T 5_prime_UTR_premature_start_codon_gain AANAT 2 2946 6.78887E-4 1473 0 NA
17-74461970-C-T c.-285C>T 5_prime_UTR_premature_start_codon_gain AANAT 2 11238 1.77968E-4 5619 0 4.18787E-4
17-74461978-C-T c.-277C>T 5_prime_UTR_premature_start_codon_gain AANAT 1 11978 8.34864E-5 5989 0 NA
17-74462016-C-T c.-239C>T 5_prime_UTR_premature_start_codon_gain AANAT 66 16906 0.00390394 8453 0 0.00453368
17-74462043-C-T c.-212C>T 5_prime_UTR_premature_start_codon_gain AANAT 1 20464 4.88663E-5 10232 0 3.18837E-5
17-74462145-C-T c.-110C>T 5_prime_UTR_premature_start_codon_gain AANAT 12 55256 2.17171E-4 27628 0 0.001875
17-74462187-C-T c.-68C>T 5_prime_UTR_premature_start_codon_gain AANAT 6 70384 8.52466E-5 35192 0 NA
17-74462190-T-C c.-65T>C 5_prime_UTR_premature_start_codon_gain AANAT 17 71326 2.38342E-4 35663 0 8.27973E-4
17-74462216-C-T c.-39C>T 5_prime_UTR_premature_start_codon_gain AANAT 1 74478 1.34268E-5 37239 0 7.18504E-6
17-74462236-T-C c.-19T>C 5_prime_UTR_premature_start_codon_gain AANAT 2 75662 2.64333E-5 37831 0 NA
17-74462257-G-A p.Met1? start_lost AANAT 1 76518 1.30688E-5 38259 0 5.78771E-5
17-74462304-G-A p.Trp17* stop_gained AANAT 4 77226 5.1796E-5 38613 0 6.26566E-4
17-74462317-G-T c.60+3G>T splice_region AANAT 1 77008 1.29857E-5 38504 0 NA
17-74462321-A-T c.60+7A>T splice_region AANAT 1 76940 1.29971E-5 38470 0 7.41466E-6
17-74463662-A-G c.-223A>G 5_prime_UTR_premature_start_codon_gain AANAT 367 27194 0.0134956 13597 4 0.0110332
17-74463682-G-T c.-203G>T 5_prime_UTR_premature_start_codon_gain AANAT 6 27202 2.20572E-4 13601 0 4.14329E-4
17-74463691-C-G c.-194C>G 5_prime_UTR_premature_start_codon_gain AANAT 1 27204 3.67593E-5 13602 0 NA
17-74463696-A-G c.-189A>G 5_prime_UTR_premature_start_codon_gain AANAT 1 27200 3.67647E-5 13600 0 NA
17-74463713-C-T c.-172C>T 5_prime_UTR_premature_start_codon_gain AANAT 3 27198 1.10302E-4 13599 0 1.27462E-4
17-74463738-C-T c.-147C>T 5_prime_UTR_premature_start_codon_gain AANAT 10 27190 3.67782E-4 13595 0 9.55962E-5
17-74464717-G-A p.Met1? start_lost AANAT 4 79348 5.04108E-5 39674 0 3.83424E-5
17-74464718-A-G p.Arg2Gly missense AANAT 1 79374 1.25986E-5 39687 0 NA
17-74464719-G-A p.Arg2Lys missense AANAT 1 79450 1.25865E-5 39725 0 NA
17-74464721-A-T p.Met3Leu missense AANAT 3 79498 3.77368E-5 39749 0 7.4334E-6
17-74464723-G-A p.Met3Ile missense AANAT 1 79586 1.2565E-5 39793 0 NA
17-74464735-C-T p.Ser7Ser synonymous AANAT 195 79984 0.00243799 39992 1 0.0054833
17-74464748-C-A p.Gln12Lys missense AANAT 8 80182 9.9773E-5 40091 0 2.60994E-4
17-74464752-A-C c.61-2A>C splice_acceptor AANAT 1 80250 1.24611E-5 40125 0 NA
17-74464763-G-A p.Gly24Ser missense AANAT 3 80564 3.72375E-5 40282 0 3.18796E-5
17-74464774-G-A p.Trp27* stop_gained AANAT 1 80924 1.23573E-5 40462 0 NA
17-74464776-T-C p.Leu28Pro missense AANAT 1 81076 1.23341E-5 40538 0 3.19183E-5
17-74464787-C-T p.Leu32Phe missense AANAT 25 81354 3.07299E-4 40677 0 4.74094E-4
17-74464802-C-T p.Arg37Cys missense AANAT 4 81570 4.90376E-5 40785 0 0.00101112
17-74464802-C-A p.Arg37Ser missense AANAT 1 81570 1.22594E-5 40785 0 4.50406E-6
17-74464803-G-A p.Arg37His missense AANAT 13 81612 1.5929E-4 40806 0 2.23428E-4
17-74464806-C-T p.Pro38Leu missense AANAT 21 81714 2.56994E-4 40857 0 5.42334E-4
17-74464811-G-A p.Glu40Lys missense AANAT 1 81894 1.22109E-5 40947 0 8.51035E-6
17-74464819-A-G p.Pro42Pro synonymous AANAT 1 82006 1.21942E-5 41003 0 NA
17-74464825-C-T p.Ala44Ala synonymous AANAT 1 82108 1.21791E-5 41054 0 NA
17-74464836-C-T p.Thr48Met missense AANAT 728 82166 0.00886011 41083 18 0.0172216
17-74464837-G-A p.Thr48Thr synonymous AANAT 85 82160 0.00103457 41080 1 0.00554435
17-74464838-C-T p.Gln49* stop_gained AANAT 1 82198 1.21657E-5 41099 0 4.41608E-5
17-74464841-A-G p.Ser50Gly missense AANAT 1 82196 1.2166E-5 41098 0 NA
17-74464853-C-T p.Leu54Leu synonymous AANAT 3 82268 3.64662E-5 41134 0 NA
17-74464859-C-A p.Pro56Thr missense AANAT 2 82282 2.43067E-5 41141 0 3.18776E-5
17-74464865-G-T p.Ala58Ser missense AANAT 34 82250 4.13374E-4 41125 0 7.73566E-4
17-74464866-C-T p.Ala58Val missense AANAT 1 82264 1.2156E-5 41132 0 NA
17-74464872-G-A p.Arg60His missense AANAT 1 82218 1.21628E-5 41109 0 5.04032E-4
17-74464883-G-A p.Gly64Arg missense AANAT 1 82320 1.21477E-5 41160 0 4.00631E-6
17-74464888-C-T p.Ile65Ile synonymous AANAT 11 82346 1.33583E-4 41173 0 1.32169E-4
17-74464888-C-G p.Ile65Met missense AANAT 2 82346 2.42878E-5 41173 0 NA
17-74464891-C-T p.Pro66Pro synonymous AANAT 7 82356 8.49968E-5 41178 0 5.52906E-4
17-74464892-G-A p.Glu67Lys missense AANAT 1 82302 1.21504E-5 41151 0 4.3053E-5
17-74464911-G-A p.Arg73Gln missense AANAT 6 82184 7.30069E-5 41092 0 6.25E-4
17-74464913-C-T p.Arg74Cys missense AANAT 1 82174 1.21693E-5 41087 0 1.43724E-4
17-74464914-G-A p.Arg74His missense AANAT 39 82162 4.74672E-4 41081 0 0.0011794
17-74464920-C-T p.Thr76Ile missense AANAT 13 82226 1.58101E-4 41113 0 1.177E-4
17-74464922-C-A p.Leu77Ile missense AANAT 1 82276 1.21542E-5 41138 0 2.79633E-5
17-74464924-C-T p.Leu77Leu synonymous AANAT 10 82414 1.21339E-4 41207 0 2.54793E-4
17-74464932-G-T p.Ser80Ile missense AANAT 1 82388 1.21377E-5 41194 0 NA
17-74464940-C-T p.Arg83Cys missense AANAT 4 82366 4.85637E-5 41183 0 1.66597E-5
17-74464952-C-A p.Pro87Thr missense AANAT 1 82336 1.21454E-5 41168 0 3.18532E-5
17-74464953-C-T p.Pro87Leu missense AANAT 1 82306 1.21498E-5 41153 0 1.27413E-4
17-74464954-G-A p.Pro87Pro synonymous AANAT 1 82286 1.21527E-5 41143 0 3.18634E-5
17-74464960-C-T p.Asp89Asp synonymous AANAT 4 82178 4.86748E-5 41089 0 6.80049E-5
17-74464961-G-A p.Ala90Thr missense AANAT 12 82116 1.46135E-4 41058 0 1.59236E-4
17-74464963-T-C p.Ala90Ala synonymous AANAT 23 82146 2.79989E-4 41073 0 0.00251762
17-74464969-C-T p.Ser92Ser synonymous AANAT 60 81962 7.32047E-4 40981 0 0.00503525
17-74464970-G-A p.Ala93Thr missense AANAT 2 81910 2.4417E-5 40955 0 3.33306E-5
17-74464978-G-A p.Glu95Glu synonymous AANAT 1 81838 1.22193E-5 40919 0 8.35213E-6
17-74464981-C-T p.Ile96Ile synonymous AANAT 2 81698 2.44804E-5 40849 0 3.18512E-5
17-74464982-G-A p.Glu97Lys missense AANAT 1 81628 1.22507E-5 40814 0 8.35897E-6
17-74464985-C-T p.Arg98Cys missense AANAT 5 81578 6.1291E-5 40789 0 1.27462E-4
17-74464994-G-A c.298+3G>A splice_region AANAT 1 81634 1.22498E-5 40817 0 NA
17-74465194-A-G c.164-5A>G splice_region AANAT 2 81426 2.45622E-5 40713 0 NA
17-74465201-A-G p.Ser56Gly missense+splice_region AANAT 4 81648 4.89908E-5 40824 0 9.56084E-5
17-74465207-C-T p.Arg58Cys missense AANAT 5 81572 6.12955E-5 40786 0 3.18715E-5
17-74465207-C-A p.Arg58Ser missense AANAT 1 81572 1.22591E-5 40786 0 NA
17-74465209-C-T p.Arg58Arg synonymous AANAT 2 81580 2.45158E-5 40790 0 3.18817E-5
17-74465210-G-A p.Glu59Lys missense AANAT 72 81700 8.81273E-4 40850 0 6.25E-4
17-74465219-C-T p.Arg62* stop_gained AANAT 2 81880 2.4426E-5 40940 0 6.37511E-5
17-74465220-G-A p.Arg62Gln missense AANAT 4 81942 4.8815E-5 40971 0 1.1638E-4
17-74465236-C-A p.His67Gln missense AANAT 1 82402 1.21356E-5 41201 0 NA
17-74465243-C-G p.Leu70Val missense AANAT 495 82566 0.0059952 41283 0 0.00780354
17-74465251-A-G c.299-4A>G splice_region AANAT 1 82786 1.20793E-5 41393 0 NA
17-74465265-C-T p.Pro77Leu missense AANAT 3 82918 3.61803E-5 41459 0 9.55718E-5
17-74465266-G-A p.Val104Ile missense AANAT 8 82932 9.64646E-5 41466 0 0.00100705
17-74465275-G-A p.Val107Ile missense AANAT 13 82912 1.56793E-4 41456 0 3.21591E-4
17-74465279-G-A p.Cys108Tyr missense AANAT 1 82946 1.2056E-5 41473 0 NA
17-74465286-G-C p.Cys84Ser missense AANAT 1 82962 1.20537E-5 41481 0 8.24334E-6
17-74465297-A-T p.Arg88* stop_gained AANAT 1 83016 1.20459E-5 41508 0 NA
17-74465299-A-G p.Ile115Val missense AANAT 1 83018 1.20456E-5 41509 0 3.97757E-6
17-74465302-C-T p.Arg116Trp missense AANAT 4 83030 4.81754E-5 41515 0 9.94439E-5
17-74465303-G-A p.Arg116Gln missense AANAT 3 83026 3.61333E-5 41513 0 7.55756E-5
17-74465315-C-A p.Thr120Asn missense AANAT 1 83066 1.20386E-5 41533 0 NA
17-74465321-G-A p.Cys122Tyr missense AANAT 5 83060 6.01974E-5 41530 0 8.23873E-6
17-74465330-T-C p.Leu125Pro missense AANAT 2 83086 2.40714E-5 41543 0 NA
17-74465338-G-C p.Gly128Arg missense AANAT 1 83076 1.20372E-5 41538 0 5.03525E-4
17-74465346-C-T p.Phe130Phe synonymous AANAT 4 83042 4.81684E-5 41521 0 1.64775E-5
17-74465347-G-C p.Glu131Gln missense AANAT 1 83054 1.20404E-5 41527 0 NA
17-74465351-A-AG p.Cys134fs frameshift AANAT 1 83062 1.20392E-5 41531 0 NA
17-74465352-G-T p.Glu132Asp missense AANAT 20 83068 2.40767E-4 41534 0 0.00251762
17-74465354-G-C p.Gly133Ala missense AANAT 2 83058 2.40796E-5 41529 0 7.95431E-6
17-74465366-C-G p.Ala137Gly missense AANAT 1 83052 1.20406E-5 41526 0 NA
17-74465376-C-T p.Ile140Ile synonymous AANAT 19 82982 2.28965E-4 41491 0 8.24348E-5
17-74465377-G-A p.Gly141Ser missense AANAT 3 82972 3.61568E-5 41486 0 3.97788E-6
17-74465381-C-T p.Ser142Leu missense AANAT 1 82876 1.20662E-5 41438 0 3.18573E-5
17-74465382-G-A p.Ser142Ser synonymous AANAT 2 82700 2.41838E-5 41350 0 3.18634E-5
17-74465393-A-G p.Lys146Arg missense AANAT 5 82666 6.04844E-5 41333 0 1.59317E-4
17-74465394-G-A p.Lys146Lys synonymous AANAT 1 82666 1.20969E-5 41333 0 3.2994E-5
17-74465394-G-C p.Lys146Asn missense AANAT 1 82666 1.20969E-5 41333 0 1.6497E-5
17-74465400-A-G p.Arg148Arg synonymous AANAT 2 82522 2.4236E-5 41261 0 NA
17-74465402-T-G p.Leu149Arg missense AANAT 3 82544 3.63443E-5 41272 0 NA
17-74465404-A-G p.Met150Val missense AANAT 1 82530 1.21168E-5 41265 0 NA
17-74465405-T-C p.Met150Thr missense AANAT 1 82526 1.21174E-5 41263 0 3.9827E-6
17-74465410-G-A c.453+1G>A splice_donor AANAT 1 82444 1.21294E-5 41222 0 8.26173E-6
17-74465412-G-A c.453+3G>A splice_region AANAT 2 82376 2.42789E-5 41188 0 NA
17-74465417-C-T c.453+8C>T splice_region AANAT 3 82328 3.64396E-5 41164 0 3.18512E-5
17-74465742-C-T c.454-5C>T splice_region AANAT 1 58520 1.70882E-5 29260 0 NA
17-74465757-C-T p.Thr155Met missense AANAT 30 61628 4.86792E-4 30814 0 7.76317E-4
17-74465758-G-A p.Thr155Thr synonymous AANAT 2 61724 3.24023E-5 30862 0 6.38162E-5
17-74465761-GC-AA p.LeuHis156LeuAsn missense AANAT 3 62882 4.77084E-5 31441 0 NA
17-74465764-C-T p.His157His synonymous AANAT 1 63574 1.57297E-5 31787 0 1.7319E-4
17-74465781-T-C p.Ile163Thr missense AANAT 10 66940 1.49388E-4 33470 0 6.25E-4
17-74465794-T-C p.His167His synonymous AANAT 51 69450 7.34341E-4 34725 0 0.00151976
17-74465803-C-T p.Ala170Ala synonymous AANAT 3 70650 4.24628E-5 35325 0 2.87155E-4
17-74465804-G-A p.Val171Met missense AANAT 3 71070 4.22119E-5 35535 0 2.00027E-4
17-74465808-A-G p.His172Arg missense AANAT 1 72214 1.38477E-5 36107 0 3.27718E-5
17-74465811-G-A p.Arg173His missense AANAT 13 72772 1.7864E-4 36386 0 6.37999E-4
17-74465812-C-T p.Arg173Arg synonymous AANAT 40 72962 5.48231E-4 36481 2 0.00625782
17-74465813-G-A p.Ala174Thr missense AANAT 59 73208 8.05923E-4 36604 0 0.00464568
17-74465820-G-A p.Arg176Gln missense AANAT 5 74078 6.74964E-5 37039 0 1.01461E-4
17-74465822-C-A p.Gln177Lys missense AANAT 1 74442 1.34333E-5 37221 0 NA
17-74465824-G-T p.Gln177His missense AANAT 2 74742 2.67587E-5 37371 1 NA
17-74465828-G-A p.Gly179Ser missense AANAT 1 75058 1.3323E-5 37529 0 NA
17-74465852-C-T p.Arg187Cys missense AANAT 2 77452 2.58224E-5 38726 0 3.1902E-5
17-74465853-G-A p.Arg187His missense AANAT 6 77630 7.72897E-5 38815 0 1.04652E-4
17-74465863-C-T p.His190His synonymous AANAT 4 78332 5.10647E-5 39166 0 2.1591E-4
17-74465869-G-C p.Leu192Leu synonymous AANAT 1 78610 1.2721E-5 39305 0 NA
17-74465869-G-A p.Leu192Leu synonymous AANAT 1 78610 1.2721E-5 39305 0 NA
17-74465880-C-T p.Pro196Leu missense AANAT 3 79212 3.78731E-5 39606 0 6.01154E-5
17-74465881-G-A p.Pro196Pro synonymous AANAT 17 79330 2.14295E-4 39665 0 5.06073E-4
17-74465882-GC-AA p.Ala197Asn missense AANAT 3 79366 3.77996E-5 39683 0 NA
17-74465884-C-T p.Ala197Ala synonymous AANAT 19 79474 2.39072E-4 39737 0 0.00305781
17-74465885-G-A p.Val198Met missense AANAT 3 79534 3.77197E-5 39767 0 9.41159E-5
17-74465888-C-T p.Arg199Cys missense AANAT 3 79586 3.76951E-5 39793 0 5.58202E-5
17-74465889-G-A p.Arg199His missense AANAT 4 79630 5.02323E-5 39815 0 1.4707E-4
17-74465891-C-T p.Arg200Trp missense AANAT 2 79732 2.5084E-5 39866 0 7.19787E-5
17-74465892-G-A p.Arg200Gln missense AANAT 4 79768 5.01454E-5 39884 0 9.56938E-5
17-74465894-G-C p.Ala201Pro missense AANAT 3 79814 3.75874E-5 39907 0 8.74822E-6
17-74465896-C-T p.Ala201Ala synonymous AANAT 52 79884 6.50944E-4 39942 0 0.00529322
17-74465898-C-T p.Ala202Val missense AANAT 8 80032 9.996E-5 40016 0 1.7334E-4
17-74465899-G-A p.Ala202Ala synonymous AANAT 31 80108 3.86978E-4 40054 0 0.00366779
17-74465902-C-G p.Leu203Leu synonymous AANAT 5 80294 6.22712E-5 40147 0 1.34667E-4
17-74465908-C-T p.Cys205Cys synonymous AANAT 1 80354 1.24449E-5 40177 0 0.00252781
17-74465909-G-A p.Glu206Lys missense AANAT 12 80434 1.49191E-4 40217 0 1.59418E-4
17-74465912-G-A p.Asp207Asn missense AANAT 1 80526 1.24183E-5 40263 0 3.18796E-5
17-74465915-G-C p.Ala208Pro missense AANAT 4 80502 4.96882E-5 40251 0 1.34246E-4
17-74465915-G-A p.Ala208Thr missense AANAT 1 80502 1.24221E-5 40251 0 3.35616E-5
17-74465916-C-T p.Ala208Val missense AANAT 493 80522 0.00612255 40261 5 0.00623617
17-74465917-G-A p.Ala208Ala synonymous AANAT 2 80540 2.48324E-5 40270 0 6.71953E-5
17-74465924-C-T p.Pro211Ser missense AANAT 1 80698 1.23919E-5 40349 0 1.70497E-5
17-74465930-T-G p.Tyr213Asp missense AANAT 1 80804 1.23756E-5 40402 0 6.25E-4
17-74465932-T-C p.Tyr213Tyr synonymous AANAT 1 80808 1.2375E-5 40404 0 NA
17-74465935-G-A p.Glu214Glu synonymous AANAT 3 80840 3.71103E-5 40420 0 5.04541E-4
17-74465939-T-G p.Phe216Val missense AANAT 1 80844 1.23695E-5 40422 0 3.19918E-5
17-74465947-C-T p.Phe218Phe synonymous AANAT 1 80858 1.23674E-5 40429 0 NA
17-74465950-C-T p.His219His synonymous AANAT 6 80842 7.42188E-5 40421 0 2.23314E-4
17-74465951-G-A p.Ala220Thr missense AANAT 8 80808 9.90001E-5 40404 0 4.69421E-4
17-74465956-G-A p.Val221Val synonymous AANAT 2 80818 2.4747E-5 40409 0 7.43237E-5
17-74465965-C-T p.Cys224Cys synonymous AANAT 5 80774 6.19011E-5 40387 0 5.05561E-4
17-74465966-G-A p.Ala225Thr missense AANAT 5 80786 6.18919E-5 40393 0 3.1902E-5
17-74465971-C-A p.Ile226Ile synonymous AANAT 479 80842 0.00592514 40421 10 0.0123102
17-74465971-C-T p.Ile226Ile synonymous AANAT 1 80858 1.23674E-5 40429 0 NA
17-74465975-G-A p.Val228Met missense AANAT 1 80744 1.23848E-5 40372 0 1.28551E-4
17-74465979-G-A p.Gly229Asp missense AANAT 1 80636 1.24014E-5 40318 0 NA
17-74465987-A-G p.Thr232Ala missense AANAT 7 80564 8.68874E-5 40282 0 0.00253807
17-74465988-C-T p.Thr232Ile missense AANAT 1 80568 1.24119E-5 40284 0 NA
17-74465989-C-G p.Thr232Thr synonymous AANAT 1 80572 1.24113E-5 40286 0 NA
17-74466003-A-G p.His237Arg missense AANAT 1 80220 1.24657E-5 40110 0 NA
17-74466006-G-T p.Cys238Phe missense AANAT 1 80132 1.24794E-5 40066 0 NA
17-74466013-G-A p.Leu240Leu synonymous AANAT 8 79978 1.00028E-4 39989 0 1.62531E-4
17-74466014-C-T p.Arg241Trp missense AANAT 3 79920 3.75375E-5 39960 0 1.13456E-4
17-74466019-C-A p.Gly242Gly synonymous AANAT 2 79726 2.50859E-5 39863 0 3.18715E-5
17-74466021-A-G p.His243Arg missense AANAT 1 79660 1.25534E-5 39830 0 6.23053E-5
17-74466022-C-T p.His243His synonymous AANAT 5 79638 6.27841E-5 39819 0 2.83656E-5
17-74466032-C-T p.Arg247Cys missense AANAT 1 79270 1.26151E-5 39635 0 7.71974E-6
17-74466033-G-A p.Arg247His missense AANAT 2 79216 2.52474E-5 39608 0 8.42602E-5
17-74466043-C-T p.Ser250Ser synonymous AANAT 1 78748 1.26987E-5 39374 0 2.69915E-5
17-74466045-G-A p.Gly251Asp missense AANAT 1 78598 1.2723E-5 39299 0 NA