Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-1905405-G-T c.-192G>T 5_prime_UTR_premature_start_codon_gain ADAT3 2166 39670 0.0546005 19835 97 0.101631
19-1905427-C-T c.-170C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 38478 2.59889E-5 19239 0 7.17257E-5
19-1905438-G-GGCGGCTGCAGGCTTCAGCCTGCGCTGGTTGGTGAAACAGAGAT c.-159+1_-159+2insCGGCTGCAGGCTTCAGCCTGCGCTGGTTGGTGAAACAGAGATG splice_donor ADAT3 2 37730 5.30082E-5 18865 1 NA
19-1905443-G-A c.-159+5G>A splice_region ADAT3 1 36850 2.7137E-5 18425 0 NA
19-1905446-C-G c.-159+8C>G splice_region ADAT3 3 36098 8.31071E-5 18049 0 7.41972E-6
19-1908211-C-T c.-582C>T 5_prime_UTR_premature_start_codon_gain ADAT3 89 4708 0.018904 2354 1 0.0359719
19-1908273-C-T c.-520C>T 5_prime_UTR_premature_start_codon_gain ADAT3 4 14612 2.73748E-4 7306 0 3.18776E-4
19-1908320-C-T c.-473C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 32020 3.12305E-5 16010 0 NA
19-1908329-G-A c.-464G>A 5_prime_UTR_premature_start_codon_gain ADAT3 23 36142 6.36379E-4 18071 0 6.69259E-4
19-1908361-C-T c.-432C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 43530 2.29727E-5 21765 0 3.18532E-5
19-1908393-C-T c.-400C>T 5_prime_UTR_premature_start_codon_gain ADAT3 7 48108 1.45506E-4 24054 0 2.86807E-4
19-1908406-G-A c.-387G>A 5_prime_UTR_premature_start_codon_gain ADAT3 1 49668 2.01337E-5 24834 0 3.18634E-5
19-1908426-C-T c.-367C>T 5_prime_UTR_premature_start_codon_gain ADAT3 2 50794 3.93747E-5 25397 0 7.02227E-6
19-1908496-C-T c.-297C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 52244 1.9141E-5 26122 0 6.25E-4
19-1908513-A-C c.-280A>C 5_prime_UTR_premature_start_codon_gain ADAT3 3 52298 5.73636E-5 26149 0 6.3743E-5
19-1908621-C-T c.-172C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 52300 1.91205E-5 26150 0 NA
19-1908638-G-A c.-159+4G>A splice_region ADAT3 124 52126 0.00237885 26063 0 0.00503313
19-1908638-GTA-ATC c.-159+4_-159+6delGTAinsATC splice_region ADAT3 1 52134 1.91813E-5 26067 0 NA
19-1908642-G-A c.-159+8G>A splice_region ADAT3 4 52006 7.69142E-5 26003 0 6.59892E-5
19-1911937-C-T c.-110C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 36784 2.71857E-5 18392 0 9.5584E-5
19-1911946-C-T c.-101C>T 5_prime_UTR_premature_start_codon_gain ADAT3 169 37566 0.00449875 18783 1 0.0143085
19-1912002-C-T c.-45C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 41368 2.41733E-5 20684 0 3.18796E-5
19-1912021-C-G c.-26C>G 5_prime_UTR_premature_start_codon_gain ADAT3 1 42522 2.35172E-5 21261 0 NA
19-1912031-C-T c.-16C>T 5_prime_UTR_premature_start_codon_gain ADAT3 1 42970 2.32721E-5 21485 0 2.9693E-5
19-1912041-C-T c.-6C>T 5_prime_UTR_premature_start_codon_gain ADAT3 6 43900 1.36674E-4 21950 0 6.37308E-5
19-1912061-C-T p.Ser5Ser synonymous ADAT3 1 46132 2.16769E-5 23066 0 NA
19-1912063-GTC-G p.Cys8fs frameshift ADAT3 1 46338 2.15806E-5 23169 0 NA
19-1912068-TGTCTCCCACAGTCG-T p.Pro10fs frameshift ADAT3 3 46982 6.38542E-5 23491 0 6.37267E-5
19-1912074-C-T p.Pro10Ser missense ADAT3 1 47504 2.10509E-5 23752 0 6.48508E-4
19-1912082-G-A p.Ser12Ser synonymous ADAT3 1 48048 2.08125E-5 24024 0 1.47362E-5
19-1912085-C-A p.Ala13Ala synonymous ADAT3 2 48668 4.10948E-5 24334 0 NA
19-1912085-C-T p.Ala13Ala synonymous ADAT3 1 48668 2.05474E-5 24334 0 NA
19-1912091-G-A p.Leu15Leu synonymous ADAT3 5 49690 1.00624E-4 24845 0 6.41026E-4
19-1912102-C-T p.Pro19Leu missense ADAT3 9 50446 1.78409E-4 25223 0 5.5056E-5
19-1912107-C-T p.Pro21Ser missense ADAT3 4 51460 7.77303E-5 25730 0 3.18492E-5
19-1912108-C-T p.Pro21Leu missense ADAT3 17 51614 3.29368E-4 25807 0 0.00235422
19-1912111-G-T p.Gly22Val missense ADAT3 1 52088 1.91983E-5 26044 0 2.39387E-5
19-1912116-G-A p.Val24Met missense ADAT3 2 53056 3.7696E-5 26528 0 NA
19-1912147-G-T p.Ser34Ile missense ADAT3 1 55330 1.80734E-5 27665 0 3.18674E-5
19-1912150-C-G p.Pro35Arg missense ADAT3 4 55608 7.19321E-5 27804 0 5.3011E-5
19-1912151-G-A p.Pro35Pro synonymous ADAT3 4 55774 7.1718E-5 27887 0 NA
19-1912154-G-C p.Glu36Asp missense ADAT3 2 56042 3.56875E-5 28021 0 9.90491E-5
19-1912154-G-T p.Glu36Asp missense ADAT3 6 56042 1.07063E-4 28021 0 0.00125
19-1912157-T-G p.Pro37Pro synonymous ADAT3 38 56272 6.75291E-4 28136 0 0.00256148
19-1912162-C-T p.Pro39Leu missense ADAT3 1 56172 1.78025E-5 28086 0 8.81523E-5
19-1912163-G-A p.Pro39Pro synonymous ADAT3 190 56082 0.0033879 28041 0 0.00797872
19-1912165-C-T p.Ala40Val missense ADAT3 17 55986 3.03647E-4 27993 0 0.00255624
19-1912186-T-A p.Val47Asp missense ADAT3 1 57104 1.75119E-5 28552 0 3.18654E-5
19-1912193-C-T p.Ser49Ser synonymous ADAT3 1 56944 1.75611E-5 28472 0 0.00101833
19-1912197-A-C p.Lys51Gln missense ADAT3 1 57036 1.75328E-5 28518 0 6.37674E-5
19-1912207-G-A p.Gly54Glu missense ADAT3 5 57248 8.73393E-5 28624 0 8.11776E-5
19-1912211-C-T p.Asp55Asp synonymous ADAT3 1 56756 1.76193E-5 28378 0 2.57347E-5
19-1912219-T-A p.Leu58Gln missense ADAT3 1 56644 1.76541E-5 28322 0 3.18674E-5
19-1912221-G-A p.Val59Met missense ADAT3 1 56600 1.76678E-5 28300 0 2.32526E-5
19-1912227-G-T p.Ala61Ser missense ADAT3 10 56404 1.77292E-4 28202 0 7.41873E-4
19-1912236-G-A p.Ala64Thr missense ADAT3 1 55096 1.81501E-5 27548 0 NA
19-1912240-C-G p.Pro65Arg missense ADAT3 1 55252 1.80989E-5 27626 0 4.78075E-6
19-1912242-G-A p.Val66Ile missense ADAT3 2 54808 3.6491E-5 27404 0 2.08995E-5
19-1912251-A-G p.Lys69Glu missense ADAT3 697 54432 0.012805 27216 7 0.0156751
19-1912255-G-A p.Arg70His missense ADAT3 1 54000 1.85185E-5 27000 0 5.99281E-5
19-1912257-C-T p.Gln71* stop_gained ADAT3 1 54078 1.84918E-5 27039 0 NA
19-1912262-C-G p.Thr72Thr synonymous ADAT3 41 53904 7.60611E-4 26952 1 0.00248614
19-1912262-C-T p.Thr72Thr synonymous ADAT3 2 53912 3.70975E-5 26956 0 NA
19-1912266-C-A p.Arg74Ser missense ADAT3 1 53718 1.86157E-5 26859 0 NA
19-1912267-G-T p.Arg74Leu missense ADAT3 4 53244 7.51258E-5 26622 0 8.55688E-5
19-1912295-C-A p.His83Gln missense ADAT3 1 50568 1.97754E-5 25284 0 3.18776E-5
19-1912297-C-G p.Pro84Arg missense ADAT3 5 50076 9.98482E-5 25038 0 1.24659E-4
19-1912298-G-A p.Pro84Pro synonymous ADAT3 1 49654 2.01394E-5 24827 0 6.3674E-5
19-1912304-C-T p.Pro86Pro synonymous ADAT3 1 49414 2.02372E-5 24707 0 6.25E-4
19-1912306-C-G p.Ala87Gly missense ADAT3 1 49324 2.02741E-5 24662 0 NA
19-1912308-C-T p.Gln88* stop_gained ADAT3 1 49308 2.02807E-5 24654 0 6.40082E-6
19-1912316-C-A p.His90Gln missense ADAT3 1 48562 2.05922E-5 24281 0 NA
19-1912317-C-A p.Leu91Ile missense ADAT3 1 48464 2.06339E-5 24232 0 1.37726E-5
19-1912324-G-A p.Arg93Gln missense ADAT3 4 47896 8.35143E-5 23948 0 1.27527E-4
19-1912338-C-G p.Arg98Gly missense ADAT3 6 46648 1.28623E-4 23324 0 3.19366E-4
19-1912338-C-T p.Arg98Cys missense ADAT3 1 46650 2.14362E-5 23325 0 NA
19-1912339-G-C p.Arg98Pro missense ADAT3 1 46472 2.15183E-5 23236 0 NA
19-1912341-G-A p.Asp99Asn missense ADAT3 2 46374 4.31276E-5 23187 0 NA
19-1912345-C-G p.Ala100Gly missense ADAT3 1 45976 2.17505E-5 22988 0 3.29251E-5
19-1912346-C-T p.Ala100Ala synonymous ADAT3 2 45956 4.35199E-5 22978 0 2.08102E-4
19-1912347-G-A p.Gly101Ser missense ADAT3 1 45812 2.18283E-5 22906 0 6.92713E-5
19-1912350-A-G p.Ser102Gly missense ADAT3 1 45640 2.19106E-5 22820 0 1.91424E-4
19-1912390-C-T p.Pro115Leu missense ADAT3 1 42766 2.33831E-5 21383 0 NA
19-1912395-T-G p.Ser117Ala missense ADAT3 3 42604 7.04159E-5 21302 0 1.94477E-4
19-1912397-G-A p.Ser117Ser synonymous ADAT3 12 42492 2.82406E-4 21246 0 7.99591E-4
19-1912402-C-T p.Pro119Leu missense ADAT3 1 42416 2.3576E-5 21208 0 3.19693E-5
19-1912406-C-A p.Arg120Arg synonymous ADAT3 11 42258 2.60306E-4 21129 0 6.52154E-4
19-1912408-C-T p.Ser121Leu missense ADAT3 2 42288 4.72947E-5 21144 0 6.39468E-5
19-1912409-G-A p.Ser121Ser synonymous ADAT3 243 42176 0.00576157 21088 5 0.0126582
19-1912429-G-T p.Arg128Leu missense ADAT3 94 42214 0.00222675 21107 0 0.00234649
19-1912433-G-A p.Pro129Pro synonymous ADAT3 1 42224 2.36832E-5 21112 0 NA
19-1912434-G-A p.Ala130Thr missense ADAT3 1 42256 2.36653E-5 21128 0 NA
19-1912442-C-T p.Asp132Asp synonymous ADAT3 3 42398 7.07581E-5 21199 0 0.00118483
19-1912451-C-T p.Gly135Gly synonymous ADAT3 1 42418 2.35749E-5 21209 0 NA
19-1912455-G-A p.Gly137Arg missense ADAT3 1 42514 2.35217E-5 21257 0 NA
19-1912460-A-G p.Gln138Gln synonymous ADAT3 1 42552 2.35007E-5 21276 0 3.21151E-5
19-1912466-C-G p.Phe140Leu missense ADAT3 2 42706 4.68318E-5 21353 0 3.20246E-5
19-1912470-G-A p.Val142Met missense ADAT3 1 42768 2.3382E-5 21384 0 1.02796E-4
19-1912476-G-T p.Val144Leu missense ADAT3 2 42832 4.66941E-5 21416 0 NA
19-1912478-G-C p.Val144Val synonymous ADAT3 18 42904 4.19541E-4 21452 0 6.29987E-4
19-1912481-C-T p.Pro145Pro synonymous ADAT3 3 43060 6.96702E-5 21530 0 1.05932E-4
19-1912486-G-A p.Arg147Gln missense ADAT3 4 43052 9.29109E-5 21526 0 0.0017094
19-1912490-G-A p.Pro148Pro synonymous ADAT3 2 43100 4.64037E-5 21550 0 9.5341E-5
19-1912501-G-A p.Arg152Lys missense ADAT3 1 43578 2.29474E-5 21789 0 1.06644E-5
19-1912511-C-T p.Phe155Phe synonymous ADAT3 2 43550 4.59242E-5 21775 0 3.28796E-5
19-1912537-C-T p.Thr164Met missense ADAT3 1 43094 2.32051E-5 21547 0 6.41149E-5
19-1912547-C-T p.His167His synonymous ADAT3 1 42864 2.33296E-5 21432 0 3.02279E-5
19-1912560-G-T p.Val172Leu missense ADAT3 2 42412 4.71565E-5 21206 0 NA
19-1912566-A-G p.Ser174Gly missense ADAT3 1 42242 2.36731E-5 21121 0 NA
19-1912568-C-T p.Ser174Ser synonymous ADAT3 410 42060 0.00974798 21030 2 0.00979008
19-1912574-G-T p.Leu176Leu synonymous ADAT3 1 41886 2.38743E-5 20943 0 NA
19-1912586-C-T p.Leu180Leu synonymous ADAT3 7 41410 1.69041E-4 20705 0 1.6073E-4
19-1912588-TCTC-T p.Ser182del conservative_inframe_deletion ADAT3 1 41356 2.41803E-5 20678 0 1.07805E-4
19-1912591-C-G p.Ser182Cys missense ADAT3 5 41318 1.21013E-4 20659 0 1.60668E-4
19-1912594-C-T p.Thr183Met missense ADAT3 457 41156 0.0111041 20578 4 0.0126207
19-1912597-A-G p.Gln184Arg missense ADAT3 4 41116 9.72857E-5 20558 0 1.60844E-4
19-1912607-C-T p.Ala187Ala synonymous ADAT3 1 40798 2.4511E-5 20399 0 NA
19-1912614-C-T p.Gln190* stop_gained ADAT3 2 40636 4.92174E-5 20318 0 NA
19-1912628-G-T p.Glu194Asp missense ADAT3 1 40314 2.48053E-5 20157 0 1.7023E-5
19-1912633-C-T p.Ala196Val missense ADAT3 3 40206 7.46157E-5 20103 0 1.27367E-4
19-1912642-C-T p.Ala199Val missense ADAT3 15 40000 3.75E-4 20000 0 6.33714E-4
19-1912651-G-T p.Arg202Leu missense ADAT3 1 39922 2.50488E-5 19961 0 NA
19-1912663-G-A p.Arg206Gln missense ADAT3 1 40168 2.48954E-5 20084 0 NA
19-1912666-G-C p.Gly207Ala missense ADAT3 1 40196 2.48781E-5 20098 0 NA
19-1912671-CGGGCCGTGG-C p.Gly212_Val214del disruptive_inframe_deletion ADAT3 2 40126 4.9843E-5 20063 0 2.26993E-4
19-1912671-C-T p.Arg209Trp missense ADAT3 1 40126 2.49215E-5 20063 0 NA
19-1912672-G-C p.Arg209Pro missense ADAT3 2 40174 4.97834E-5 20087 0 0.0016572
19-1912672-G-A p.Arg209Gln missense ADAT3 1 40174 2.48917E-5 20087 0 1.29775E-4
19-1912676-C-T p.Ala210Ala synonymous ADAT3 1 40168 2.48954E-5 20084 0 1.93633E-5
19-1912679-G-A p.Val211Val synonymous ADAT3 1 40304 2.48114E-5 20152 0 4.26257E-4
19-1912680-G-A p.Gly212Arg missense ADAT3 1 40312 2.48065E-5 20156 0 NA
19-1912685-C-A p.Ala213Ala synonymous ADAT3 4 40316 9.92162E-5 20158 0 6.47794E-5
19-1912693-T-C p.Val216Ala missense ADAT3 1 40422 2.4739E-5 20211 0 NA
19-1912700-G-A p.Pro218Pro synonymous ADAT3 2 40462 4.94291E-5 20231 0 NA
19-1912705-C-T p.Ser220Leu missense ADAT3 1 40572 2.46475E-5 20286 0 1.31544E-4
19-1912713-G-A p.Val223Met missense ADAT3 2 40720 4.91159E-5 20360 0 1.08814E-4
19-1912724-C-T p.Thr226Thr synonymous ADAT3 2 40946 4.88448E-5 20473 0 0.00209424
19-1912724-C-G p.Thr226Thr synonymous ADAT3 1 40946 2.44224E-5 20473 0 NA
19-1912725-G-A p.Gly227Ser missense ADAT3 1 40954 2.44176E-5 20477 0 1.80995E-4
19-1912727-C-T p.Gly227Gly synonymous ADAT3 1 41026 2.43748E-5 20513 0 NA
19-1912733-C-G p.Asp229Glu missense ADAT3 2 41202 4.85413E-5 20601 0 NA
19-1912736-C-T p.Cys230Cys synonymous ADAT3 1 41238 2.42495E-5 20619 0 1.43217E-5
19-1912742-C-T p.Cys232Cys synonymous ADAT3 2 41358 4.83582E-5 20679 0 NA
19-1912743-G-A p.Ala233Thr missense ADAT3 2 41370 4.83442E-5 20685 0 6.88525E-6
19-1912745-G-A p.Ala233Ala synonymous ADAT3 1 41468 2.4115E-5 20734 0 NA
19-1912747-A-C p.Asp234Ala missense ADAT3 1 41538 2.40743E-5 20769 0 NA
19-1912750-A-G p.Asn235Ser missense ADAT3 2 41696 4.79662E-5 20848 0 1.31846E-5
19-1912750-A-T p.Asn235Ile missense ADAT3 1 41696 2.39831E-5 20848 0 NA
19-1912766-C-T p.Ala240Ala synonymous ADAT3 1 42218 2.36866E-5 21109 0 NA
19-1912766-C-G p.Ala240Ala synonymous ADAT3 1 42218 2.36866E-5 21109 0 6.03537E-6
19-1912770-A-G p.Met242Val missense ADAT3 122 42416 0.00287627 21208 1 0.0076696
19-1912797-G-A p.Gly251Ser missense ADAT3 3 43052 6.96832E-5 21526 0 9.62835E-5
19-1912806-C-G p.Arg254Gly missense ADAT3 1 43590 2.2941E-5 21795 0 1.71082E-4
19-1912807-G-A p.Arg254His missense ADAT3 11 43572 2.52456E-4 21786 0 0.00305667
19-1912809-G-A p.Gly255Ser missense ADAT3 1 43856 2.28019E-5 21928 0 1.52788E-5
19-1912813-C-T p.Thr256Ile missense ADAT3 2 44718 4.47247E-5 22359 0 3.20164E-4
19-1912817-C-T p.Tyr257Tyr synonymous ADAT3 3120 44994 0.0693426 22497 137 0.139113
19-1912823-C-A p.Phe259Leu missense ADAT3 2 46012 4.34669E-5 23006 0 1.43227E-5
19-1912829-C-T p.Pro261Pro synonymous ADAT3 1 46530 2.14915E-5 23265 0 3.20061E-5
19-1912840-G-T p.Cys265Phe missense ADAT3 2 48216 4.148E-5 24108 0 4.60363E-6
19-1912844-C-A p.Ser266Ser synonymous ADAT3 1 48932 2.04365E-5 24466 0 4.57901E-6
19-1912848-G-A p.Ala268Thr missense ADAT3 1 48620 2.05677E-5 24310 0 2.74168E-5
19-1912850-C-G p.Ala268Ala synonymous ADAT3 1 49616 2.01548E-5 24808 0 NA
19-1912852-C-T p.Pro269Leu missense ADAT3 1 49910 2.00361E-5 24955 0 6.25E-4
19-1912853-G-A p.Pro269Pro synonymous ADAT3 1 49680 2.01288E-5 24840 0 NA
19-1912857-G-A p.Ala271Thr missense ADAT3 1 50544 1.97847E-5 25272 0 6.39345E-5
19-1912862-C-A p.Ala272Ala synonymous ADAT3 2 51880 3.85505E-5 25940 0 NA
19-1912864-C-A p.Pro273His missense ADAT3 1 52202 1.91564E-5 26101 0 NA
19-1912864-C-G p.Pro273Arg missense ADAT3 2 52202 3.83127E-5 26101 0 NA
19-1912866-C-T p.Gln274* stop_gained ADAT3 2 52346 3.82073E-5 26173 0 1.00971E-5
19-1912866-C-A p.Gln274Lys missense ADAT3 2 52344 3.82088E-5 26172 0 5.04541E-4
19-1912866-C-G p.Gln274Glu missense ADAT3 1 52346 1.91037E-5 26173 0 NA
19-1912875-C-G p.Arg277Gly missense ADAT3 3 53466 5.61104E-5 26733 0 3.19366E-5
19-1912877-C-T p.Arg277Arg synonymous ADAT3 45 53934 8.34353E-4 26967 1 0.00249233
19-1912878-G-T p.Ala278Ser missense ADAT3 2 53930 3.70851E-5 26965 0 NA
19-1912885-C-T p.Ala280Val missense ADAT3 2 56064 3.56735E-5 28032 0 NA
19-1912887-G-C p.Val281Leu missense ADAT3 2 56688 3.52808E-5 28344 0 3.19244E-5
19-1912892-T-A p.Arg282Arg synonymous ADAT3 1 58456 1.71069E-5 29228 0 3.59816E-5
19-1912897-T-C p.Leu284Pro missense ADAT3 1 59558 1.67904E-5 29779 0 NA
19-1912897-T-G p.Leu284Arg missense ADAT3 1 59558 1.67904E-5 29779 0 4.25804E-6
19-1912900-A-C p.Asp285Ala missense ADAT3 57 60010 9.49842E-4 30005 0 0.00258736
19-1912901-C-T p.Asp285Asp synonymous ADAT3 1 60094 1.66406E-5 30047 0 6.25E-4
19-1912902-G-A p.Ala286Thr missense ADAT3 1 60188 1.66146E-5 30094 0 NA
19-1912911-G-A p.Asp289Asn missense ADAT3 1 63134 1.58393E-5 31567 0 NA
19-1912913-C-T p.Asp289Asp synonymous ADAT3 3 63276 4.74113E-5 31638 0 6.25E-4
19-1912914-G-A p.Gly290Ser missense ADAT3 2 63418 3.15368E-5 31709 0 NA
19-1912916-C-T p.Gly290Gly synonymous ADAT3 1 64094 1.56021E-5 32047 0 1.75701E-5
19-1912919-C-A p.Leu291Leu synonymous ADAT3 1 65074 1.53671E-5 32537 0 NA
19-1912920-C-T p.Pro292Ser missense ADAT3 2 65198 3.06758E-5 32599 0 1.75226E-5
19-1912921-C-T p.Pro292Leu missense ADAT3 1 65310 1.53116E-5 32655 0 3.18918E-5
19-1912923-T-C p.Tyr293His missense ADAT3 2 65664 3.04581E-5 32832 0 NA
19-1912925-C-T p.Tyr293Tyr synonymous ADAT3 1 66026 1.51455E-5 33013 0 1.48698E-4
19-1912926-C-G p.Leu294Val missense ADAT3 1 66234 1.5098E-5 33117 0 8.74447E-6
19-1912934-T-C p.Thr296Thr synonymous ADAT3 13943 65010 0.214475 32505 1519 0.305639
19-1912937-C-A p.Gly297Gly synonymous ADAT3 1 67652 1.47815E-5 33826 0 NA
19-1912941-G-T p.Asp299Tyr missense ADAT3 1 68346 1.46314E-5 34173 0 NA
19-1912944-C-G p.Leu300Val missense ADAT3 1 69108 1.44701E-5 34554 0 9.56206E-5
19-1912946-G-C p.Leu300Leu synonymous ADAT3 1 69548 1.43786E-5 34774 0 NA
19-1912952-G-C p.Val302Val synonymous ADAT3 1 70486 1.41872E-5 35243 0 NA
19-1912956-C-T p.Arg304Cys missense ADAT3 4 71090 5.62667E-5 35545 0 3.4721E-5
19-1912958-C-T p.Arg304Arg synonymous ADAT3 1 71418 1.40021E-5 35709 0 NA
19-1912962-C-T p.Pro306Ser missense ADAT3 1 72236 1.38435E-5 36118 0 NA
19-1912963-C-T p.Pro306Leu missense ADAT3 2 72576 2.75573E-5 36288 0 NA
19-1912964-CTGCGCCATG-C p.Cys310_Met312del conservative_inframe_deletion ADAT3 2 72800 2.74725E-5 36400 0 1.91314E-4
19-1912964-C-CTGCGCCATG p.Cys310_Met312dup conservative_inframe_insertion ADAT3 1 72800 1.37363E-5 36400 0 NA
19-1912968-G-A p.Ala308Thr missense ADAT3 11 73062 1.50557E-4 36531 0 0.005625
19-1912976-C-A p.Cys310* stop_gained ADAT3 3 74190 4.04367E-5 37095 0 3.18715E-5
19-1912977-G-A p.Ala311Thr missense ADAT3 1 74302 1.34586E-5 37151 0 NA
19-1912981-TG-T p.Ala313fs frameshift ADAT3 1 75114 1.33131E-5 37557 0 8.3325E-6
19-1912986-C-T p.Leu314Leu synonymous ADAT3 10739 74380 0.14438 37190 758 0.18766
19-1912994-C-T p.His316His synonymous ADAT3 1 76188 1.31254E-5 38094 0 1.13252E-4
19-1913002-T-G p.Ile319Ser missense ADAT3 1 77236 1.29473E-5 38618 0 NA
19-1913003-C-T p.Ile319Ile synonymous ADAT3 1 77318 1.29336E-5 38659 0 8.37079E-6
19-1913008-G-C p.Arg321Pro missense ADAT3 5 77594 6.4438E-5 38797 0 3.18715E-5
19-1913008-G-A p.Arg321His missense ADAT3 3 77594 3.86628E-5 38797 0 6.25E-4
19-1913009-C-T p.Arg321Arg synonymous ADAT3 3 77630 3.86449E-5 38815 0 6.37308E-5
19-1913010-G-A p.Val322Ile missense ADAT3 1 77794 1.28545E-5 38897 0 4.20667E-5
19-1913012-C-T p.Val322Val synonymous ADAT3 1 77972 1.28251E-5 38986 0 3.18715E-5
19-1913018-C-T p.Tyr324Tyr synonymous ADAT3 3 78066 3.8429E-5 39033 0 8.00701E-5
19-1913023-C-A p.Ala326Glu missense ADAT3 1 77930 1.2832E-5 38965 0 NA
19-1913024-G-A p.Ala326Ala synonymous ADAT3 2 78024 2.56331E-5 39012 0 3.18837E-5
19-1913027-C-G p.Pro327Pro synonymous ADAT3 1 78300 1.27714E-5 39150 0 NA
19-1913029-C-T p.Ser328Leu missense ADAT3 2 78328 2.55337E-5 39164 0 9.0225E-6
19-1913030-G-A p.Ser328Ser synonymous ADAT3 2 78254 2.55578E-5 39127 0 3.18756E-5
19-1913030-G-T p.Ser328Ser synonymous ADAT3 3 78254 3.83367E-5 39127 0 9.02087E-6
19-1913033-C-G p.Pro329Pro synonymous ADAT3 2 78434 2.54991E-5 39217 0 9.01599E-6
19-1913034-G-A p.Asp330Asn missense ADAT3 4 78506 5.09515E-5 39253 0 4.58751E-4
19-1913043-C-T p.Leu333Leu synonymous ADAT3 2 78742 2.53994E-5 39371 0 1.27946E-5
19-1913050-C-G p.Thr335Ser missense ADAT3 2 78822 2.53736E-5 39411 0 3.85139E-5
19-1913058-C-T p.Arg338Cys missense ADAT3 1 78948 1.26666E-5 39474 0 4.91092E-5
19-1913059-G-A p.Arg338His missense ADAT3 10 78904 1.26736E-4 39452 0 6.37389E-5
19-1913067-G-A p.Ala341Thr missense ADAT3 1 78914 1.2672E-5 39457 0 5.04032E-4
19-1913074-C-G p.Pro343Arg missense ADAT3 1 78972 1.26627E-5 39486 0 NA
19-1913078-CCT-C p.Leu345fs frameshift ADAT3 1 79010 1.26566E-5 39505 0 4.40009E-6
19-1913083-A-G p.Asn346Ser missense ADAT3 2 79014 2.5312E-5 39507 0 1.32567E-5
19-1913088-C-T p.Arg348Cys missense ADAT3 1 79076 1.26461E-5 39538 0 3.78291E-5
19-1913094-C-T p.Gln350* stop_gained ADAT3 1 79206 1.26253E-5 39603 0 NA
19-1913103-C-T p.Arg353Cys missense ADAT3 14 79166 1.76844E-4 39583 0 1.62935E-4
19-1913114-G-A p.Leu356Leu synonymous ADAT3 2 79258 2.5234E-5 39629 0 NA
19-1913115-G-C p.Glu357Gln missense ADAT3 18 79256 2.27112E-4 39628 1 0.00125
19-1913127-C-G p.Arg361Gly missense ADAT3 5 79208 6.31249E-5 39604 0 3.76487E-4
19-1913127-C-T p.Arg361Cys missense ADAT3 1 79210 1.26247E-5 39605 0 6.37064E-5
19-1913133-C-G p.Leu363Val missense ADAT3 1 79252 1.2618E-5 39626 0 NA
19-1913133-C-T p.Leu363Leu synonymous ADAT3 2 79254 2.52353E-5 39627 0 NA
19-1913138-C-T p.Asp364Asp synonymous ADAT3 1 79158 1.2633E-5 39579 0 NA
19-1913145-A-G p.Thr367Ala missense ADAT3 1 79082 1.26451E-5 39541 0 4.82439E-5
19-1913146-C-T p.Thr367Met missense ADAT3 6 79100 7.58533E-5 39550 0 5.40599E-5
19-1913147-G-A p.Thr367Thr synonymous ADAT3 1 79136 1.26365E-5 39568 0 5.39549E-5
19-1913443-C-T c.*293C>T splice_region ADAT3 114 59832 0.00190533 29916 1 0.00286734