Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-53817701-C-T c.-18C>T 5_prime_UTR_premature_start_codon_gain AMHR2 1 79218 1.26234E-5 39609 0 3.18431E-5
12-53817743-G-A p.Ala9Thr missense AMHR2 1 80682 1.23943E-5 40341 0 6.36821E-5
12-53817768-G-C c.49+1G>C splice_donor AMHR2 2 80962 2.47029E-5 40481 0 NA
12-53817768-G-GTT c.49+1_49+2insTT splice_donor AMHR2 1 80962 1.23515E-5 40481 0 NA
12-53817774-G-A c.49+7G>A splice_region AMHR2 6 80806 7.42519E-5 40403 0 3.98219E-5
12-53818065-G-A c.50-7G>A splice_region AMHR2 1 82672 1.2096E-5 41336 0 NA
12-53818078-C-G p.Pro19Arg missense AMHR2 1 82874 1.20665E-5 41437 0 3.97814E-6
12-53818080-A-C p.Asn20His missense AMHR2 1 82896 1.20633E-5 41448 0 9.55779E-5
12-53818080-A-G p.Asn20Asp missense AMHR2 3 82896 3.61899E-5 41448 0 NA
12-53818086-C-T p.Arg22* stop_gained AMHR2 2 82922 2.41191E-5 41461 0 1.59113E-5
12-53818087-G-A p.Arg22Gln missense AMHR2 1 82926 1.20589E-5 41463 0 3.18215E-5
12-53818087-G-T p.Arg22Leu missense AMHR2 1 82926 1.20589E-5 41463 0 NA
12-53818089-A-T p.Thr23Ser missense AMHR2 1 82948 1.20557E-5 41474 0 8.24565E-6
12-53818090-C-T p.Thr23Ile missense AMHR2 10 82948 1.20557E-4 41474 0 1.91095E-4
12-53818090-C-G p.Thr23Ser missense AMHR2 5 82948 6.02787E-5 41474 0 5.03525E-4
12-53818093-G-T p.Cys24Phe missense AMHR2 1 82970 1.20525E-5 41485 0 NA
12-53818095-G-A p.Val25Met missense AMHR2 1 82998 1.20485E-5 41499 0 3.97731E-6
12-53818095-G-C p.Val25Leu missense AMHR2 1 82998 1.20485E-5 41499 0 NA
12-53818110-C-T p.Pro30Ser missense AMHR2 3 82970 3.61576E-5 41485 0 6.37186E-5
12-53818120-G-A p.Arg33Gln missense AMHR2 2 82994 2.40981E-5 41497 0 4.13182E-5
12-53818137-C-G p.Leu39Val missense AMHR2 2 83004 2.40952E-5 41502 0 NA
12-53818138-T-G p.Leu39Arg missense AMHR2 1 82976 1.20517E-5 41488 0 3.97833E-6
12-53818182-C-T p.Arg54Cys missense AMHR2 4 82916 4.82416E-5 41458 0 8.59579E-5
12-53818183-G-A p.Arg54His missense AMHR2 1 82906 1.20619E-5 41453 0 4.3027E-5
12-53818192-A-G p.Tyr57Cys missense AMHR2 1 82980 1.20511E-5 41490 0 1.73409E-5
12-53818192-A-C p.Tyr57Ser missense AMHR2 1 82980 1.20511E-5 41490 0 1.73409E-5
12-53818193-C-T p.Tyr57Tyr synonymous AMHR2 13 83010 1.56608E-4 41505 0 0.004375
12-53818195-GC-G p.Arg59fs frameshift AMHR2 1 83016 1.20459E-5 41508 0 NA
12-53818197-C-T p.Arg59Cys missense AMHR2 4 83028 4.81765E-5 41514 0 4.33749E-5
12-53818198-G-A p.Arg59His missense AMHR2 6 83040 7.22543E-5 41520 0 5.03525E-4
12-53818202-C-T p.Cys60Cys synonymous AMHR2 1 83042 1.20421E-5 41521 0 6.37511E-5
12-53818225-C-T p.Thr68Ile missense AMHR2 1 83072 1.20378E-5 41536 0 3.99629E-6
12-53818233-C-G p.Arg71Gly missense AMHR2 1 83088 1.20354E-5 41544 0 1.27442E-4
12-53818233-C-A p.Arg71Arg synonymous AMHR2 2 83088 2.40709E-5 41544 0 9.56328E-5
12-53818233-C-T p.Arg71Trp missense AMHR2 1 83088 1.20354E-5 41544 0 5.04032E-4
12-53818234-G-A p.Arg71Gln missense AMHR2 1 83080 1.20366E-5 41540 0 3.65999E-5
12-53818241-G-A p.Gln73Gln synonymous AMHR2 5 83070 6.01902E-5 41535 0 6.25E-4
12-53818248-A-G p.Met76Val missense AMHR2 2 83068 2.40767E-5 41534 0 8.0481E-6
12-53818497-C-T p.Cys79Cys synonymous AMHR2 1 82794 1.20782E-5 41397 0 7.98015E-6
12-53818501-GAC-G p.Asp81fs frameshift AMHR2 2 82854 2.41388E-5 41427 0 NA
12-53818512-G-A p.Glu84Glu synonymous AMHR2 4 82860 4.82742E-5 41430 0 NA
12-53818518-C-A p.Gly86Gly synonymous AMHR2 2 82884 2.41301E-5 41442 0 NA
12-53818528-C-T p.Leu90Phe missense AMHR2 1 82936 1.20575E-5 41468 0 3.18918E-5
12-53818536-T-C p.Cys92Cys synonymous AMHR2 1 82946 1.2056E-5 41473 0 NA
12-53818549-C-T p.Arg97* stop_gained AMHR2 1 82968 1.20528E-5 41484 0 1.65125E-5
12-53818582-A-T p.Thr108Ser missense AMHR2 3 83004 3.61428E-5 41502 0 1.28016E-4
12-53818582-A-C p.Thr108Pro missense AMHR2 2 83004 2.40952E-5 41502 0 1.64894E-5
12-53818582-A-G p.Thr108Ala missense AMHR2 1 83004 1.20476E-5 41502 0 3.20041E-5
12-53818583-C-T p.Thr108Ile missense AMHR2 2 83008 2.40941E-5 41504 0 3.97795E-6
12-53818587-C-T p.Cys109Cys synonymous AMHR2 4 83020 4.81812E-5 41510 0 1.27575E-4
12-53818599-T-G p.Thr113Thr synonymous AMHR2 1 83002 1.20479E-5 41501 0 NA
12-53818605-C-T p.Phe115Phe synonymous AMHR2 2 82978 2.41028E-5 41489 0 NA
12-53818612-G-A p.Ala118Thr missense AMHR2 7 82972 8.43658E-5 41486 0 1.27698E-4
12-53818620-C-T p.Tyr120Tyr synonymous AMHR2 1 82906 1.20619E-5 41453 0 8.256E-6
12-53818627-C-T p.Leu123Leu synonymous AMHR2 1 82802 1.2077E-5 41401 0 8.26378E-6
12-53818635-T-C p.Pro125Pro synonymous AMHR2 1 82690 1.20934E-5 41345 0 NA
12-53818649-G-A p.Gly130Glu missense AMHR2 1 82280 1.21536E-5 41140 0 NA
12-53818666-G-A p.Gly136Ser missense AMHR2 1 81546 1.2263E-5 40773 0 NA
12-53818671-C-G p.Pro137Pro synonymous AMHR2 1 81410 1.22835E-5 40705 0 4.03203E-6
12-53818671-C-T p.Pro137Pro synonymous AMHR2 1 81410 1.22835E-5 40705 0 1.67833E-5
12-53818676-C-T p.Ala139Val missense AMHR2 15 81018 1.85144E-4 40509 0 3.82604E-4
12-53818678-G-T p.Ala140Ser missense AMHR2 1 80828 1.2372E-5 40414 0 4.04983E-6
12-53818682-C-T p.Pro141Leu missense+splice_region AMHR2 2 80718 2.47776E-5 40359 0 2.83603E-5
12-53818692-C-T c.424+8C>T splice_region AMHR2 9 79660 1.1298E-4 39830 0 2.23129E-4
12-53818969-C-A p.Leu149Met missense AMHR2 3 82320 3.64431E-5 41160 0 0.00125
12-53818971-G-A p.Leu149Leu synonymous AMHR2 1 82312 1.21489E-5 41156 0 8.2375E-6
12-53818982-G-A p.Gly153Glu missense AMHR2 1 82052 1.21874E-5 41026 0 3.19285E-5
12-53818984-C-T p.Leu154Leu synonymous AMHR2 3 81970 3.65988E-5 40985 0 NA
12-53818987-TTCC-T p.Leu159del disruptive_inframe_deletion AMHR2 1 81934 1.22049E-5 40967 0 NA
12-53818990-C-A p.Leu156Ile missense AMHR2 1 81830 1.22205E-5 40915 0 NA
12-53818991-T-G p.Leu156Arg missense AMHR2 1 81802 1.22246E-5 40901 0 NA
12-53819004-G-T p.Leu160Leu synonymous AMHR2 5 81204 6.15733E-5 40602 0 8.23778E-6
12-53819007-G-T p.Leu161Leu synonymous AMHR2 1 81036 1.23402E-5 40518 0 1.64756E-5
12-53819013-C-A p.Gly163Gly synonymous AMHR2 1 80724 1.23879E-5 40362 0 NA
12-53819020-A-T p.Ile166Phe missense AMHR2 1 80284 1.24558E-5 40142 0 1.1952E-5
12-53819026-G-A p.Ala168Thr missense+splice_region AMHR2 2 79700 2.50941E-5 39850 0 4.78492E-5
12-53819238-G-A c.503-1G>A splice_acceptor AMHR2 1 73816 1.35472E-5 36908 0 8.29119E-6
12-53819239-C-T p.Ala168Val missense+splice_region AMHR2 28 74074 3.78E-4 37037 1 7.96229E-4
12-53819243-G-C p.Leu169Leu synonymous AMHR2 15 74870 2.00347E-4 37435 0 2.5481E-4
12-53819250-C-T p.Arg172* stop_gained AMHR2 1 75836 1.31863E-5 37918 0 1.65747E-5
12-53819251-G-A p.Arg172Gln missense AMHR2 1 76106 1.31396E-5 38053 0 4.01242E-6
12-53819253-A-C p.Lys173Gln missense AMHR2 1 76752 1.3029E-5 38376 0 NA
12-53819258-C-T p.Asn174Asn synonymous AMHR2 2 77480 2.58131E-5 38740 0 8.0116E-6
12-53819268-C-T p.Arg178* stop_gained AMHR2 3 78586 3.81747E-5 39293 0 6.37267E-5
12-53819269-G-A p.Arg178Gln missense AMHR2 1 78890 1.26759E-5 39445 0 2.48492E-5
12-53819276-G-C p.Glu180Asp missense AMHR2 1 79654 1.25543E-5 39827 0 3.99664E-6
12-53819297-A-G p.Pro187Pro synonymous AMHR2 1 81082 1.23332E-5 40541 0 NA
12-53819304-G-C p.Gly190Arg missense AMHR2 1 81364 1.22904E-5 40682 0 3.18532E-5
12-53819318-T-C p.Ser194Ser synonymous AMHR2 1 81742 1.22336E-5 40871 0 1.65557E-5
12-53819352-T-A p.Ser206Thr missense AMHR2 2 82534 2.42324E-5 41267 0 NA
12-53819353-C-T p.Ser206Phe missense AMHR2 2 82546 2.42289E-5 41273 0 3.18695E-5
12-53819355-C-A p.Gln207Lys missense+splice_region AMHR2 2 82576 2.42201E-5 41288 0 8.3849E-6
12-53819356-A-C p.Gln207Pro missense+splice_region AMHR2 1 82594 1.21074E-5 41297 0 NA
12-53819467-C-T c.622-6C>T splice_region AMHR2 13637 82774 0.16475 41387 1187 0.169511
12-53819479-C-T p.Arg210Trp missense AMHR2 3 83024 3.61341E-5 41512 0 1.66229E-5
12-53819480-G-A p.Arg210Gln missense AMHR2 2 83022 2.409E-5 41511 0 3.18573E-5
12-53819482-G-A p.Glu211Lys missense AMHR2 1 83036 1.2043E-5 41518 0 3.18512E-5
12-53819489-G-A p.Gly213Asp missense AMHR2 2 83052 2.40813E-5 41526 0 NA
12-53819492-A-T p.His214Leu missense AMHR2 1 83086 1.20357E-5 41543 0 NA
12-53819495-CA-C p.Val216fs frameshift AMHR2 1 83086 1.20357E-5 41543 0 3.98143E-6
12-53819498-TG-T p.Val217fs frameshift AMHR2 1 83086 1.20357E-5 41543 0 3.18837E-5
12-53819499-G-A p.Val216Val synonymous AMHR2 1 83092 1.20349E-5 41546 0 3.98111E-6
12-53819508-C-T c.-253C>T 5_prime_UTR_premature_start_codon_gain AMHR2 4 83084 4.8144E-5 41542 0 9.94085E-5
12-53819524-A-G p.Lys225Glu missense AMHR2 1 83132 1.20291E-5 41566 0 NA
12-53819540-A-G p.Lys230Arg missense AMHR2 1 83186 1.20213E-5 41593 0 NA
12-53819544-C-A p.Ala231Ala synonymous AMHR2 1 83190 1.20207E-5 41595 0 NA
12-53819546-T-G p.Phe232Cys missense AMHR2 3 83184 3.60646E-5 41592 0 3.18756E-5
12-53819553-G-A p.Pro234Pro synonymous AMHR2 2 83202 2.40379E-5 41601 0 3.18654E-5
12-53819575-G-A p.Ala242Thr missense AMHR2 1 83212 1.20175E-5 41606 0 NA
12-53819576-C-T p.Ala242Val missense AMHR2 1 83202 1.20189E-5 41601 0 NA
12-53819577-TGA-T p.Arg244fs frameshift AMHR2 1 83206 1.20184E-5 41603 0 NA
12-53819582-G-A p.Arg244Lys missense AMHR2 1 83212 1.20175E-5 41606 0 NA
12-53819592-C-T c.-169C>T 5_prime_UTR_premature_start_codon_gain AMHR2 8 83170 9.61885E-5 41585 0 9.56084E-5
12-53819596-C-T p.Leu249Phe missense AMHR2 1 83178 1.20224E-5 41589 0 NA
12-53819596-C-A p.Leu249Ile missense AMHR2 1 83178 1.20224E-5 41589 0 2.47762E-5
12-53819608-C-T p.Gln253* stop_gained AMHR2 1 83166 1.20241E-5 41583 0 3.97772E-6
12-53819613-C-T c.-148C>T 5_prime_UTR_premature_start_codon_gain AMHR2 9 83120 1.08277E-4 41560 0 2.86843E-4
12-53819613-C-G p.His254Gln missense AMHR2 2 83120 2.40616E-5 41560 0 NA
12-53819614-G-A p.Asp255Asn missense AMHR2 2 83110 2.40645E-5 41555 0 3.18796E-5
12-53819616-C-T p.Asp255Asp synonymous AMHR2 1 83116 1.20314E-5 41558 0 NA
12-53819620-A-G p.Ile257Val missense AMHR2 1 83116 1.20314E-5 41558 0 6.38121E-5
12-53819627-G-A p.Arg259Gln missense AMHR2 6 83062 7.22352E-5 41531 0 3.18959E-5
12-53819637-T-A p.Thr262Thr synonymous AMHR2 2 82996 2.40975E-5 41498 0 NA
12-53819644-C-CG p.Pro268fs frameshift AMHR2 2 82864 2.41359E-5 41432 0 9.13227E-5
12-53819644-C-A p.Arg265Arg synonymous AMHR2 1 82876 1.20662E-5 41438 0 3.98549E-6
12-53819645-G-A p.Arg265Gln missense AMHR2 7 82838 8.45023E-5 41419 0 6.64606E-5
12-53819650-G-C p.Gly267Arg missense AMHR2 2 82810 2.41517E-5 41405 0 1.65981E-5
12-53819659-C-T p.Arg270Cys missense AMHR2 2 82566 2.4223E-5 41283 0 5.57667E-5
12-53819673-G-T p.Gly274Gly synonymous AMHR2 1 82120 1.21773E-5 41060 0 NA
12-53819683-G-A p.Val278Ile missense AMHR2 1 81840 1.2219E-5 40920 0 3.99141E-6
12-53819697-T-G p.His282Gln missense AMHR2 3 81098 3.69923E-5 40549 0 1.17393E-4
12-53819700-C-T p.Pro283Pro synonymous AMHR2 1 80888 1.23628E-5 40444 0 1.68062E-5
12-53819710-A-C c.852+7A>C splice_region AMHR2 1 80008 1.24988E-5 40004 0 6.37227E-5
12-53822679-G-T c.853-1G>T splice_acceptor AMHR2 3 82414 3.64016E-5 41207 0 6.26464E-6
12-53822682-C-A p.Gly285Gly splice_region+synonymous AMHR2 2 82424 2.42648E-5 41212 0 1.25271E-5
12-53822689-T-C p.Cys288Arg missense AMHR2 1 82442 1.21297E-5 41221 0 3.18674E-5
12-53822690-G-A p.Cys288Tyr missense AMHR2 1 82436 1.21306E-5 41218 0 6.25861E-6
12-53822706-G-A n.581G>A splice_region AMHR2 2 82420 2.4266E-5 41210 0 6.36902E-5
12-53822721-G-C p.Trp298Cys missense AMHR2 1 82428 1.21318E-5 41214 0 6.26794E-6
12-53822730-C-T p.Ser301Ser synonymous AMHR2 73 82426 8.85643E-4 41213 0 7.96432E-4
12-53822734-C-T p.Arg303Trp missense AMHR2 12 82400 1.45631E-4 41200 0 1.19254E-4
12-53822742-AC-A p.Leu306fs frameshift AMHR2 2 82368 2.42813E-5 41184 0 1.25694E-5
12-53822745-G-A p.Leu306Leu synonymous AMHR2 3 82372 3.64201E-5 41186 0 1.88594E-5
12-53822760-C-G p.Gly311Gly synonymous AMHR2 10 82334 1.21457E-4 41167 0 2.5481E-4
12-53822770-C-T p.Leu315Phe missense AMHR2 1 82278 1.21539E-5 41139 0 NA
12-53822776-G-A p.Glu317Lys missense AMHR2 1 82286 1.21527E-5 41143 0 NA
12-53822782-C-T p.Arg319Cys missense AMHR2 2 82246 2.43173E-5 41123 0 6.30859E-6
12-53822783-G-A p.Arg319His missense AMHR2 1 82232 1.21607E-5 41116 0 1.26177E-5
12-53822788-C-A p.Gln321Lys missense AMHR2 1 82218 1.21628E-5 41109 0 NA
12-53823233-A-G c.968-4A>G splice_region AMHR2 1 79936 1.251E-5 39968 0 NA
12-53823263-C-T p.Arg332* stop_gained AMHR2 1 82412 1.21342E-5 41206 0 1.19598E-5
12-53823280-G-T p.Gln337His missense AMHR2 2 82984 2.4101E-5 41492 0 8.25696E-6
12-53823284-G-A p.Val339Met missense AMHR2 1 83018 1.20456E-5 41509 0 NA
12-53823295-G-C p.Arg342Arg synonymous AMHR2 1 83104 1.20331E-5 41552 0 NA
12-53823306-C-T p.Ser346Leu missense AMHR2 4 83178 4.80896E-5 41589 0 5.17022E-5
12-53823307-G-A p.Ser346Ser synonymous AMHR2 5328 82954 0.0642284 41477 996 0.131418
12-53823307-G-C p.Ser346Ser synonymous AMHR2 2 83170 2.40471E-5 41585 0 NA
12-53823316-T-C p.Ile349Ile synonymous AMHR2 5 83220 6.00817E-5 41610 0 0.00112065
12-53823323-C-T p.Leu352Leu synonymous AMHR2 5 83240 6.00673E-5 41620 0 6.39141E-5
12-53823340-G-A p.Val357Val synonymous AMHR2 1 83250 1.2012E-5 41625 0 3.19591E-5
12-53823354-C-T p.Thr362Ile missense AMHR2 1 83254 1.20114E-5 41627 0 NA
12-53823364-T-C p.Pro365Pro synonymous AMHR2 1 83266 1.20097E-5 41633 0 NA
12-53823365-G-T p.Ala366Ser missense AMHR2 4 83250 4.8048E-5 41625 1 NA
12-53823388-A-G p.Gln373Gln synonymous AMHR2 1 83200 1.20192E-5 41600 0 NA
12-53823390-G-C p.Gly374Ala missense AMHR2 1 83164 1.20244E-5 41582 0 NA
12-53823398-G-A p.Ala377Thr missense AMHR2 1 83122 1.20305E-5 41561 0 NA
12-53823415-T-C c.1140+6T>C splice_region AMHR2 1 82982 1.20508E-5 41491 0 8.71156E-6
12-53823612-C-T c.1141-3C>T splice_region AMHR2 74 82984 8.91738E-4 41492 0 0.00140163
12-53823617-T-G p.Ala381Ala splice_region+synonymous AMHR2 2 83008 2.40941E-5 41504 0 NA
12-53823627-A-C p.Arg385Arg synonymous AMHR2 1 83040 1.20424E-5 41520 0 NA
12-53823645-C-A p.Leu391Ile missense AMHR2 1 83106 1.20328E-5 41553 0 NA
12-53823654-A-G p.Lys394Glu missense AMHR2 1 83158 1.20253E-5 41579 0 NA
12-53823656-G-T p.Lys394Asn missense AMHR2 1 83174 1.2023E-5 41587 0 NA
12-53823690-C-T p.Arg406* stop_gained AMHR2 1 83236 1.2014E-5 41618 0 3.97814E-6
12-53823691-G-A p.Arg406Gln missense AMHR2 1 83234 1.20143E-5 41617 0 1.64954E-5
12-53823692-A-G p.Arg406Arg synonymous AMHR2 1 83236 1.2014E-5 41618 0 NA
12-53823693-C-T p.Arg407* stop_gained AMHR2 4 83228 4.80607E-5 41614 0 4.9487E-5
12-53823694-G-A p.Arg407Gln missense AMHR2 7 83240 8.40942E-5 41620 0 3.18695E-5
12-53823696-G-A p.Ala408Thr missense AMHR2 2 83256 2.40223E-5 41628 0 NA
12-53823703-T-C p.Ile410Thr missense AMHR2 1 83264 1.201E-5 41632 0 NA
12-53823714-G-A p.Ala414Thr missense AMHR2 1 83254 1.20114E-5 41627 0 7.95501E-6
12-53823714-G-T p.Ala414Ser missense AMHR2 1 83254 1.20114E-5 41627 0 8.24647E-6
12-53823741-C-T p.Arg423Cys missense AMHR2 2 83178 2.40448E-5 41589 0 8.2462E-6
12-53823742-G-A p.Arg423His missense AMHR2 1 83160 1.2025E-5 41580 0 3.18715E-5
12-53823931-C-T p.Asp430Asp splice_region+synonymous AMHR2 1 83378 1.19936E-5 41689 0 NA
12-53823938-C-T p.Pro433Ser missense AMHR2 1 83376 1.19939E-5 41688 0 NA
12-53823942-C-T p.Pro434Leu missense AMHR2 1 83378 1.19936E-5 41689 0 NA
12-53823964-G-A p.Arg440Lys missense AMHR2 1 83358 1.19964E-5 41679 0 3.18512E-5
12-53823970-ACTGGGCAATACCCCTACCTCTGATGAG-A p.Gly445_Leu453del disruptive_inframe_deletion AMHR2 30 83360 3.59885E-4 41680 0 4.77829E-4
12-53823975-G-A p.Gly445Asp missense AMHR2 1 83364 1.19956E-5 41682 0 NA
12-53823983-C-T p.Pro448Ser missense AMHR2 1 83360 1.19962E-5 41680 0 NA
12-53824014-T-C p.Val458Ala missense AMHR2 1 83344 1.19985E-5 41672 0 4.77156E-5
12-53824036-C-T p.Thr464Ile missense AMHR2 1 83324 1.20013E-5 41662 0 NA
12-53824044-C-T p.Ser468Phe missense AMHR2 2 83316 2.4005E-5 41658 0 3.18492E-5
12-53824046-A-T p.Thr469Ser missense AMHR2 1 83300 1.20048E-5 41650 0 1.64731E-5
12-53824050-G-A p.Trp470* stop_gained AMHR2 1 83298 1.20051E-5 41649 0 NA
12-53824052-C-T p.Arg471Cys missense AMHR2 4 83286 4.80273E-5 41643 0 1.98825E-5
12-53824053-G-A p.Arg471His missense AMHR2 2 83278 2.40159E-5 41639 0 3.18593E-5
12-53824061-G-A p.Ala474Thr missense AMHR2 1 83232 1.20146E-5 41616 0 1.64734E-5
12-53824073-G-A c.1425+7G>A splice_region AMHR2 4 83142 4.81105E-5 41571 0 NA
12-53824074-G-C c.1425+8G>C splice_region AMHR2 1 83124 1.20302E-5 41562 0 3.18552E-5
12-53824953-C-G c.1426-8C>G splice_region AMHR2 1 81240 1.23092E-5 40620 0 1.68933E-5
12-53824955-C-T c.1426-6C>T splice_region AMHR2 1 81350 1.22926E-5 40675 0 NA
12-53824956-C-T c.1426-5C>T splice_region AMHR2 1 81412 1.22832E-5 40706 0 7.99054E-6
12-53824964-C-G p.Pro477Ala missense AMHR2 1 81704 1.22393E-5 40852 0 2.5247E-5
12-53824971-G-A p.Gly479Glu missense AMHR2 1 81858 1.22163E-5 40929 0 4.45746E-4
12-53824993-C-G p.Asp486Glu missense AMHR2 3 82682 3.62836E-5 41341 0 NA
12-53825016-C-G p.Ala494Gly missense AMHR2 4 83002 4.81916E-5 41501 0 3.18451E-5
12-53825019-G-A p.Arg495Gln missense AMHR2 4 83002 4.81916E-5 41501 0 1.98877E-5
12-53825038-A-G p.Val501Val synonymous AMHR2 1 83140 1.20279E-5 41570 0 3.97744E-6
12-53825045-C-T p.Arg504Cys missense AMHR2 1 83170 1.20236E-5 41585 0 3.18492E-5
12-53825046-G-A p.Arg504His missense AMHR2 2 83172 2.40466E-5 41586 0 3.97731E-6
12-53825047-C-T n.2161C>T splice_region AMHR2 1 83188 1.2021E-5 41594 0 NA
12-53825048-C-T n.2162C>T splice_region AMHR2 2 83186 2.40425E-5 41593 0 8.24334E-6
12-53825054-G-A p.Ala507Thr missense AMHR2 6 83210 7.21067E-5 41605 0 NA
12-53825064-A-G p.His510Arg missense AMHR2 6 83242 7.2079E-5 41621 0 5.03525E-4
12-53825067-C-T p.Pro511Leu missense AMHR2 2 83252 2.40234E-5 41626 0 8.23968E-6
12-53825073-A-G p.Glu513Gly missense AMHR2 2 83252 2.40234E-5 41626 0 3.97693E-6
12-53825080-C-A p.His515Gln missense AMHR2 1 83260 1.20106E-5 41630 0 NA
12-53825102-C-T p.Arg523Cys missense AMHR2 1 83272 1.20088E-5 41636 0 1.59071E-5
12-53825103-G-A p.Arg523His missense AMHR2 2 83258 2.40217E-5 41629 0 2.47133E-5
12-53825126-G-C p.Glu531Gln missense AMHR2 3 83232 3.60438E-5 41616 0 9.55597E-5
12-53825134-T-C p.Cys533Cys synonymous AMHR2 1 83220 1.20163E-5 41610 0 8.23791E-6
12-53825151-CT-C p.Thr540fs frameshift AMHR2 3 83174 3.6069E-5 41587 0 1.64737E-5
12-53825154-C-A p.Thr540Asn missense AMHR2 1 83160 1.2025E-5 41580 0 NA
12-53825161-C-A p.Leu542Leu synonymous AMHR2 32 83156 3.84819E-4 41578 0 7.32391E-4
12-53825161-C-T p.Leu542Leu synonymous AMHR2 1 83156 1.20256E-5 41578 0 8.23696E-6
12-53825178-G-A p.Arg548Gln missense AMHR2 42 83096 5.05439E-4 41548 0 2.30643E-4
12-53825181-G-C p.Ser549Thr missense AMHR2 1 83080 1.20366E-5 41540 0 6.36943E-5
12-53825182-T-A p.Ser549Arg missense AMHR2 1 83084 1.2036E-5 41542 0 6.25E-4
12-53825187-G-A p.Cys551Tyr missense AMHR2 1 83118 1.20311E-5 41559 0 8.23723E-6
12-53825197-C-T p.Ser554Ser synonymous AMHR2 1 83084 1.2036E-5 41542 0 3.18817E-5
12-53825213-T-C p.Cys560Arg missense AMHR2 1 82988 1.20499E-5 41494 0 NA
12-53825232-C-T p.Pro566Leu missense AMHR2 1 82788 1.2079E-5 41394 0 8.24008E-6
12-53825245-T-A p.Leu570Leu synonymous AMHR2 10 82512 1.21194E-4 41256 0 1.27348E-4
12-53825253-T-C p.Val573Ala missense AMHR2 1 82132 1.21755E-5 41066 0 NA