Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-96337130-G-A c.-47G>A 5_prime_UTR_premature_start_codon_gain AMDHD1 1 38396 2.60444E-5 19198 0 1.67937E-5
12-96337183-A-G p.Ser3Gly missense AMDHD1 24634 40472 0.608668 20236 7656 0.634619
12-96337202-T-C p.Leu9Pro missense AMDHD1 1 41320 2.42014E-5 20660 0 2.231E-4
12-96337214-A-G p.Gln13Arg missense AMDHD1 2 40946 4.88448E-5 20473 0 2.89318E-5
12-96337222-G-A p.Val16Met missense AMDHD1 6 40790 1.47095E-4 20395 0 6.37146E-5
12-96337225-C-T p.Leu17Leu synonymous AMDHD1 8438 40340 0.209172 20170 1025 0.297601
12-96337226-T-A p.Leu17Gln missense AMDHD1 1 40610 2.46245E-5 20305 0 NA
12-96337235-C-A p.Ala20Asp missense AMDHD1 1 40386 2.47611E-5 20193 0 9.74944E-6
12-96337239-C-T p.Arg21Arg synonymous AMDHD1 2 40284 4.96475E-5 20142 0 9.77326E-5
12-96337246-C-A p.Arg24Ser missense AMDHD1 1 40130 2.4919E-5 20065 0 NA
12-96337246-C-G p.Arg24Gly missense AMDHD1 1 40130 2.4919E-5 20065 0 9.72517E-6
12-96337247-G-A p.Arg24His missense AMDHD1 1 40148 2.49078E-5 20074 0 9.56389E-5
12-96337250-TCCTGGCGCGGGATGCGCTGCGCAG-T p.Arg28_Ala35del conservative_inframe_deletion AMDHD1 1 40200 2.48756E-5 20100 0 NA
12-96337252-C-T p.Leu26Leu synonymous AMDHD1 1 40232 2.48558E-5 20116 0 1.93581E-5
12-96337272-C-A p.Arg32Arg synonymous AMDHD1 1 39860 2.50878E-5 19930 0 2.0444E-5
12-96337279-G-T p.Ala35Ser missense AMDHD1 13 39822 3.26453E-4 19911 0 4.68055E-4
12-96337280-CGGTGCTGGAAGGCGCCAGCCTGGT-C p.Met1fs frameshift AMDHD1 1 39756 2.51534E-5 19878 0 NA
12-96337288-G-A p.Glu38Lys missense AMDHD1 2 39782 5.0274E-5 19891 0 NA
12-96346492-C-T c.138-3C>T splice_region AMDHD1 5 79484 6.29057E-5 39742 0 1.23635E-5
12-96346494-G-C c.138-1G>C splice_acceptor AMDHD1 1 79598 1.25631E-5 39799 0 NA
12-96346496-G-A p.Asp47Asn missense+splice_region AMDHD1 1 79658 1.25537E-5 39829 0 NA
12-96346517-G-C p.Gly54Arg missense AMDHD1 1 80078 1.24878E-5 40039 0 1.59286E-4
12-96346543-G-T p.Gln62His missense AMDHD1 5 80208 6.23379E-5 40104 0 3.18695E-4
12-96346551-G-A p.Gly65Glu missense AMDHD1 4 80228 4.98579E-5 40114 0 NA
12-96346552-A-G p.Gly65Gly synonymous AMDHD1 1 80226 1.24648E-5 40113 0 8.28734E-6
12-96346560-T-C p.Phe68Ser missense AMDHD1 2 80194 2.49395E-5 40097 0 NA
12-96346568-A-G p.Ile71Val missense AMDHD1 1 80106 1.24835E-5 40053 0 8.2861E-6
12-96346574-G-A p.Asp73Asn missense AMDHD1 2 80102 2.49682E-5 40051 0 0.0020141
12-96346577-T-C p.Cys74Arg missense AMDHD1 4 80052 4.99675E-5 40026 0 0.00100705
12-96346591-T-C p.Cys78Cys synonymous AMDHD1 1 79826 1.25272E-5 39913 0 NA
12-96346594-T-C p.Ile79Ile synonymous AMDHD1 16704 79162 0.21101 39581 1955 0.244512
12-96346604-A-G c.244+3A>G splice_region AMDHD1 1 79424 1.25907E-5 39712 0 NA
12-96348689-G-T p.Gly82Val missense+splice_region AMDHD1 1 80450 1.24301E-5 40225 0 NA
12-96348696-G-A p.Val84Val synonymous AMDHD1 5 80488 6.21211E-5 40244 0 3.9782E-6
12-96348703-C-A p.His87Asn missense AMDHD1 1 80538 1.24165E-5 40269 0 NA
12-96348711-T-G p.His89Gln missense AMDHD1 1 80558 1.24134E-5 40279 0 NA
12-96348725-G-A p.Gly94Asp missense AMDHD1 1 80566 1.24122E-5 40283 0 3.1835E-5
12-96348736-C-A p.His98Asn missense AMDHD1 1 80566 1.24122E-5 40283 0 NA
12-96348738-C-T c.-10C>T 5_prime_UTR_premature_start_codon_gain AMDHD1 1 80538 1.24165E-5 40269 0 1.98867E-5
12-96348739-G-A p.Glu99Lys missense AMDHD1 1 80546 1.24153E-5 40273 0 1.64864E-5
12-96348757-A-G c.309+4A>G splice_region AMDHD1 2 80456 2.48583E-5 40228 0 NA
12-96348757-AC-CT c.309+4_309+5delACinsCT splice_region AMDHD1 2 80456 2.48583E-5 40228 0 NA
12-96350463-T-C p.Val41Ala missense+splice_region AMDHD1 1 80710 1.239E-5 40355 0 NA
12-96350463-TTG-T p.Leu104fs frameshift AMDHD1 1 80710 1.239E-5 40355 0 NA
12-96350465-G-C p.Leu104Phe missense+splice_region AMDHD1 3 80704 3.71729E-5 40352 0 3.98473E-6
12-96350473-C-G p.Ala6Gly missense+splice_region AMDHD1 6 80704 7.43458E-5 40352 0 3.1841E-5
12-96350479-A-T p.Tyr109Phe missense AMDHD1 1 80714 1.23894E-5 40357 0 NA
12-96350493-C-G p.Gln114Glu missense AMDHD1 6 80690 7.43587E-5 40345 0 9.55475E-5
12-96350501-A-T p.Arg54Trp missense AMDHD1 7 80666 8.67776E-5 40333 0 4.12882E-5
12-96350504-A-G p.Arg55Gly missense AMDHD1 2 80664 2.47942E-5 40332 0 3.97912E-6
12-96350527-G-A p.Arg125His missense AMDHD1 1 80542 1.24159E-5 40271 0 3.30333E-5
12-96350533-G-A p.Arg127His missense AMDHD1 1 80576 1.24106E-5 40288 0 1.19404E-5
12-96350538-G-A p.Ala129Thr missense AMDHD1 5 80772 6.19026E-5 40386 0 2.78425E-5
12-96350557-T-C p.Phe135Ser missense AMDHD1 1 80762 1.23821E-5 40381 0 2.5575E-4
12-96350565-T-C p.Leu75Pro missense AMDHD1 3 80798 3.71296E-5 40399 0 2.47517E-5
12-96350571-C-G p.Gln140Glu missense AMDHD1 4 80784 4.95148E-5 40392 0 2.54664E-4
12-96350576-G-A p.Ala79Thr missense AMDHD1 2 80804 2.47513E-5 40402 0 NA
12-96350586-A-G p.Met145Val missense AMDHD1 19 80822 2.35085E-4 40411 0 1.56735E-4
12-96350590-T-A p.Met146Lys missense AMDHD1 1 80820 1.23732E-5 40410 0 2.38652E-5
12-96350605-C-T p.Thr151Met missense AMDHD1 3 80800 3.71287E-5 40400 0 6.3674E-5
12-96350605-C-A p.Thr151Lys missense AMDHD1 1 80800 1.23762E-5 40400 0 8.24865E-6
12-96350612-G-A p.Gly91Arg missense AMDHD1 94 80834 0.00116288 40417 0 0.00114946
12-96350615-G-C p.Glu154Asp missense AMDHD1 3 80836 3.71122E-5 40418 0 6.36659E-5
12-96350626-G-T p.Gly158Val missense AMDHD1 3 80842 3.71094E-5 40421 0 7.95418E-6
12-96350637-G-C p.Asp162His missense AMDHD1 2 80784 2.47574E-5 40392 0 8.25151E-6
12-96350647-C-A p.Thr165Asn missense AMDHD1 1 80794 1.23772E-5 40397 0 0.00100705
12-96350648-C-T p.Arg103* stop_gained AMDHD1 1 80776 1.23799E-5 40388 0 6.36943E-5
12-96350654-C-T p.Gln105* stop_gained AMDHD1 3 80798 3.71296E-5 40399 0 NA
12-96350654-C-G p.Gln105Glu missense AMDHD1 2 80798 2.47531E-5 40399 0 3.58009E-5
12-96350666-C-T p.Arg109Cys missense AMDHD1 15 80714 1.85841E-4 40357 0 1.07379E-4
12-96350675-G-A p.Glu174Glu synonymous AMDHD1 1 80698 1.23919E-5 40349 0 NA
12-96350679-G-A p.Ala176Thr missense AMDHD1 1 80610 1.24054E-5 40305 0 3.9807E-6
12-96350683-G-A p.Arg177Gln missense AMDHD1 1 80584 1.24094E-5 40292 0 NA
12-96350688-G-A p.Glu179Lys missense AMDHD1 1 80504 1.24217E-5 40252 0 1.19386E-5
12-96350690-G-A p.Glu179Glu synonymous AMDHD1 2 80436 2.48645E-5 40218 0 0.00187735
12-96350691-C-T p.Leu180Leu synonymous AMDHD1 1 80458 1.24288E-5 40229 0 3.1837E-5
12-96350695-A-G p.Asp181Gly missense AMDHD1 1 80462 1.24282E-5 40231 0 3.1839E-5
12-96350696-C-G p.Asp181Glu missense AMDHD1 6 80454 7.45768E-5 40227 0 6.25782E-4
12-96350699-C-A p.Ile182Ile synonymous AMDHD1 1 80390 1.24394E-5 40195 0 8.28665E-6
12-96350700-G-A p.Gly183Ser missense AMDHD1 1 80348 1.24459E-5 40174 0 2.48587E-5
12-96350708-G-A p.Ser185Ser synonymous AMDHD1 1 80162 1.24747E-5 40081 0 1.65986E-5
12-96350715-T-C p.Tyr188His missense AMDHD1 2 80050 2.49844E-5 40025 0 8.31089E-6
12-96350727-CAT-C p.His192fs frameshift AMDHD1 1 79716 1.25445E-5 39858 0 NA
12-96350739-A-C p.Lys196Gln missense+splice_region AMDHD1 2 79300 2.52207E-5 39650 0 NA
12-96354175-G-C c.588-1G>C splice_acceptor AMDHD1 2 80814 2.47482E-5 40407 0 3.18431E-5
12-96354213-A-G p.Asn209Asp missense AMDHD1 2 80998 2.4692E-5 40499 0 NA
12-96354232-T-G p.Leu215Arg missense AMDHD1 2 81022 2.46847E-5 40511 0 2.47443E-5
12-96354236-G-T p.Lys216Asn missense AMDHD1 422 81028 0.00520808 40514 5 0.010538
12-96354247-G-A p.Arg220Lys missense AMDHD1 2 81036 2.46804E-5 40518 0 8.2428E-6
12-96354251-TG-T p.Glu223fs frameshift AMDHD1 5 81042 6.16964E-5 40521 0 3.18134E-5
12-96354256-A-G p.Glu223Gly missense AMDHD1 5 81044 6.16949E-5 40522 0 9.54365E-5
12-96354263-C-T p.His225His synonymous AMDHD1 2 81040 2.46792E-5 40520 0 3.97659E-6
12-96354264-G-A p.Val226Met missense AMDHD1 17 81040 2.09773E-4 40520 0 5.03525E-4
12-96354269-C-A p.Asp227Glu missense AMDHD1 1 81044 1.2339E-5 40522 0 5.1694E-5
12-96354274-T-C p.Ile229Thr missense AMDHD1 1 81036 1.23402E-5 40518 0 2.47158E-5
12-96354278-C-T p.Asp230Asp synonymous AMDHD1 1 81034 1.23405E-5 40517 0 3.18471E-5
12-96354279-G-A p.Val231Ile missense AMDHD1 4 81038 4.93596E-5 40519 0 1.91083E-4
12-96354287-T-C p.Cys233Cys synonymous AMDHD1 1 81044 1.2339E-5 40522 0 6.36943E-5
12-96354294-G-T p.Gly236Cys missense AMDHD1 1 81050 1.23381E-5 40525 0 7.9526E-6
12-96354298-T-C p.Val237Ala missense AMDHD1 1 81048 1.23384E-5 40524 0 NA
12-96354309-G-A p.Asp241Asn missense AMDHD1 1 81040 1.23396E-5 40520 0 1.64734E-5
12-96354317-C-A p.Thr243Thr synonymous AMDHD1 133 81038 0.00164121 40519 1 0.00302115
12-96354322-G-A p.Arg245Lys missense AMDHD1 1 81036 1.23402E-5 40518 0 NA
12-96354333-C-T p.Arg249Cys missense AMDHD1 22 81040 2.71471E-4 40520 0 0.00167202
12-96354334-G-A p.Arg249His missense AMDHD1 18 81040 2.22113E-4 40520 0 5.03525E-4
12-96354336-G-A p.Gly250Arg missense AMDHD1 1 81040 1.23396E-5 40520 0 NA
12-96354349-G-C p.Gly254Ala missense AMDHD1 1 81036 1.23402E-5 40518 0 NA
12-96354350-G-A p.Gly254Gly synonymous AMDHD1 1 81036 1.23402E-5 40518 0 NA
12-96354386-G-A p.Pro266Pro synonymous AMDHD1 11 80986 1.35826E-4 40493 0 9.89821E-5
12-96354386-G-T p.Pro266Pro synonymous AMDHD1 1 80986 1.23478E-5 40493 0 3.97864E-6
12-96354393-G-T p.Ala269Ser missense AMDHD1 2 80972 2.46999E-5 40486 0 NA
12-96354394-C-T p.Ala269Val missense AMDHD1 1 80968 1.23506E-5 40484 0 NA
12-96354399-G-C p.Glu271Gln missense+splice_region AMDHD1 1 80958 1.23521E-5 40479 0 NA
12-96354401-G-A p.Glu271Glu splice_region+synonymous AMDHD1 74 80950 9.14145E-4 40475 0 0.0010195
12-96354403-T-C c.813+2T>C splice_donor AMDHD1 2 80950 2.47066E-5 40475 0 4.00766E-6
12-96354405-T-A c.813+4T>A splice_region AMDHD1 2 80932 2.47121E-5 40466 0 8.01822E-6
12-96356130-T-C c.814-3T>C splice_region AMDHD1 1 80480 1.24254E-5 40240 0 2.48764E-5
12-96356137-G-A p.Gly273Glu missense AMDHD1 6 80514 7.45212E-5 40257 0 1.19904E-5
12-96356149-G-A p.Gly277Glu missense AMDHD1 1 80530 1.24177E-5 40265 0 NA
12-96356152-C-T p.Ala278Val missense AMDHD1 9 80494 1.1181E-4 40247 0 7.44663E-5
12-96356153-G-A p.Ala278Ala synonymous AMDHD1 1 80482 1.24251E-5 40241 0 1.65453E-5
12-96356155-A-G p.Gln279Arg missense AMDHD1 1 80540 1.24162E-5 40270 0 3.99004E-6
12-96356164-G-C p.Ser282Thr missense AMDHD1 1 80588 1.24088E-5 40294 0 NA
12-96356168-C-T p.His283His synonymous AMDHD1 1 80574 1.2411E-5 40287 0 4.78492E-5
12-96356178-G-A p.Val287Met missense AMDHD1 1 80614 1.24048E-5 40307 0 8.26132E-6
12-96356191-G-T p.Gly291Val missense AMDHD1 10 80608 1.24057E-4 40304 0 2.86569E-4
12-96356195-C-T p.Ile292Ile synonymous AMDHD1 1 80604 1.24063E-5 40302 0 3.18471E-5
12-96356196-G-A p.Val293Ile missense AMDHD1 3 80620 3.72116E-5 40310 0 2.47889E-5
12-96356203-T-G p.Met295Arg missense AMDHD1 1 80618 1.24042E-5 40309 0 1.19498E-5
12-96356205-G-A p.Ala296Thr missense AMDHD1 45 80632 5.58091E-4 40316 0 3.54664E-4
12-96356210-G-A p.Thr297Thr synonymous AMDHD1 2 80628 2.48053E-5 40314 0 8.26829E-6
12-96356237-C-T p.Pro306Pro synonymous AMDHD1 4 80654 4.95946E-5 40327 0 8.79247E-5
12-96356245-C-G p.Ala309Gly missense AMDHD1 1 80662 1.23974E-5 40331 0 8.29972E-6
12-96356265-C-T c.938+8C>T splice_region AMDHD1 2 80520 2.48385E-5 40260 0 5.52608E-5
12-96359465-C-T p.Leu314Leu splice_region+synonymous AMDHD1 1 80512 1.24205E-5 40256 0 NA
12-96359471-CA-C p.Gln316fs frameshift AMDHD1 1 80550 1.24146E-5 40275 0 NA
12-96359477-C-G p.Arg318Gly missense AMDHD1 3 80558 3.72403E-5 40279 0 1.64897E-5
12-96359491-G-A p.Met322Ile missense AMDHD1 1 80660 1.23977E-5 40330 0 NA
12-96359493-T-G p.Leu323* stop_gained AMDHD1 1 80680 1.23946E-5 40340 0 NA
12-96359497-T-C p.Asp324Asp synonymous AMDHD1 1 80688 1.23934E-5 40344 0 NA
12-96359501-G-A p.Gly326Arg missense AMDHD1 2 80698 2.47838E-5 40349 0 6.25E-4
12-96359504-G-A p.Val327Ile missense AMDHD1 15 80714 1.85841E-4 40357 0 1.4354E-4
12-96359505-T-G p.Val327Gly missense AMDHD1 2 80716 2.47782E-5 40358 0 NA
12-96359506-A-G p.Val327Val synonymous AMDHD1 1 80712 1.23897E-5 40356 0 NA
12-96359560-A-C c.1032+3A>C splice_region AMDHD1 1 80238 1.24629E-5 40119 0 NA
12-96359564-A-AT c.1032+7_1032+8insT splice_region AMDHD1 1 80218 1.2466E-5 40109 0 NA
12-96359564-A-C c.1032+7A>C splice_region AMDHD1 1 80218 1.2466E-5 40109 0 3.18613E-5
12-96360123-T-C c.1033-3T>C splice_region AMDHD1 4 80822 4.94915E-5 40411 0 2.47329E-5
12-96360129-A-G p.Met346Val missense AMDHD1 1 80848 1.23689E-5 40424 0 3.1839E-5
12-96360132-G-A p.Val347Ile missense AMDHD1 117 80862 0.00144691 40431 0 0.005
12-96360132-G-T p.Val347Phe missense AMDHD1 1 80868 1.23658E-5 40434 0 NA
12-96360135-A-G p.Met348Val missense AMDHD1 5 80884 6.18169E-5 40442 0 6.59294E-5
12-96360148-G-A p.Cys352Tyr missense AMDHD1 1 80930 1.23564E-5 40465 0 NA
12-96360155-C-G p.Asn354Lys missense AMDHD1 102 80936 0.00126025 40468 0 0.00257962
12-96360156-A-C p.Met355Leu missense AMDHD1 2 80942 2.47091E-5 40471 0 3.18431E-5
12-96360163-T-G p.Met357Arg missense AMDHD1 2 80944 2.47084E-5 40472 0 NA
12-96360172-C-A p.Pro360His missense AMDHD1 644 80912 0.00795926 40456 13 0.0146778
12-96360185-C-T p.Ala364Ala synonymous AMDHD1 1 80920 1.23579E-5 40460 0 8.23683E-6
12-96360186-G-A p.Ala365Thr missense AMDHD1 1 80928 1.23567E-5 40464 0 6.3674E-5
12-96360193-C-T p.Thr367Ile missense AMDHD1 1 80942 1.23545E-5 40471 0 8.23683E-6
12-96360209-T-C p.Tyr372Tyr synonymous AMDHD1 3 80952 3.7059E-5 40476 0 1.19309E-5
12-96360221-GTC-G p.His380fs frameshift AMDHD1 1 80980 1.23487E-5 40490 0 1.64737E-5
12-96360223-C-T p.Ser377Phe missense AMDHD1 1 80978 1.2349E-5 40489 0 3.97681E-6
12-96360233-C-T p.His380His synonymous AMDHD1 2 80986 2.46956E-5 40493 0 8.23669E-6
12-96360239-G-A p.Ser382Ser synonymous AMDHD1 2 80988 2.4695E-5 40494 0 9.55049E-5
12-96360241-T-C p.Leu383Ser missense AMDHD1 1 80986 1.23478E-5 40493 0 NA
12-96360242-G-A p.Leu383Leu synonymous AMDHD1 36 80984 4.44532E-4 40492 0 4.13907E-4
12-96360248-T-C p.Val385Val synonymous AMDHD1 4 80978 4.93961E-5 40489 0 3.1837E-5
12-96360253-A-T p.Lys387Ile missense AMDHD1 4 80980 4.93949E-5 40490 0 NA
12-96360268-T-C p.Ile392Thr missense AMDHD1 1 80982 1.23484E-5 40491 0 NA
12-96360277-A-G p.Asn395Ser missense AMDHD1 5 80986 6.17391E-5 40493 0 3.97681E-5
12-96360285-C-T p.Arg398* stop_gained AMDHD1 12 80984 1.48177E-4 40492 0 8.24008E-5
12-96360286-G-A p.Arg398Gln missense+splice_region AMDHD1 21 80982 2.59317E-4 40491 0 5.03525E-4
12-96361529-TC-T c.1194-4delC splice_region AMDHD1 6 79042 7.5909E-5 39521 0 2.73286E-4
12-96361529-T-TC c.1194-5_1194-4insC splice_region AMDHD1 1 79120 1.2639E-5 39560 0 NA
12-96361530-C-T c.1194-4C>T splice_region AMDHD1 309 70762 0.00436675 35381 0 0.0406348
12-96361530-CTA-TTT c.1194-4_1194-2delCTAinsTTT splice_acceptor AMDHD1 1 77514 1.29009E-5 38757 0 NA
12-96361530-C-A c.1194-4C>A splice_region AMDHD1 1 77518 1.29002E-5 38759 0 NA
12-96361531-TAGATGGGAGCA-T p.Trp399_His401del splice_acceptor AMDHD1 6 78366 7.65638E-5 39183 0 0.0022315
12-96361532-A-T c.1194-2A>T splice_acceptor AMDHD1 7 77982 8.97643E-5 38991 0 0.0025974
12-96361532-A-G c.1194-2A>G splice_acceptor AMDHD1 7 78034 8.97045E-5 39017 0 9.80777E-5
12-96361535-TGGGAGCA-T p.Trp399fs frameshift AMDHD1 1 78754 1.26978E-5 39377 0 5.45554E-4
12-96361553-C-T p.Gln405* stop_gained AMDHD1 1 79480 1.25818E-5 39740 0 NA
12-96361559-G-A p.Gly407Arg missense AMDHD1 3 79420 3.77739E-5 39710 0 3.47657E-5
12-96361562-G-C p.Gly408Arg missense AMDHD1 1 79724 1.25433E-5 39862 0 NA
12-96361563-G-A p.Gly408Asp missense AMDHD1 1 79702 1.25467E-5 39851 0 1.29153E-5
12-96361579-T-C p.Ile413Ile synonymous AMDHD1 1 79912 1.25138E-5 39956 0 3.00156E-5
12-96361590-T-C p.Ile417Thr missense AMDHD1 1 79786 1.25335E-5 39893 0 2.57865E-4
12-96361604-C-T p.Leu422Phe missense AMDHD1 1 79482 1.25815E-5 39741 0 NA
12-96361618-A-G p.Thr426Thr synonymous AMDHD1 1 79538 1.25726E-5 39769 0 6.40902E-5