Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-84224766-C-T c.-71C>T 5_prime_UTR_premature_start_codon_gain ADAD2 1 43698 2.28843E-5 21849 0 NA
16-84224770-C-T c.-67C>T 5_prime_UTR_premature_start_codon_gain ADAD2 1 44066 2.26932E-5 22033 0 NA
16-84224805-G-T c.-32G>T 5_prime_UTR_premature_start_codon_gain ADAD2 2 45756 4.37101E-5 22878 0 2.16576E-5
16-84224823-C-G c.-14C>G 5_prime_UTR_premature_start_codon_gain ADAD2 1 46140 2.16732E-5 23070 0 NA
16-84224826-C-T c.-11C>T 5_prime_UTR_premature_start_codon_gain ADAD2 1 46076 2.17033E-5 23038 0 1.26898E-5
16-84224833-G-T c.-4G>T 5_prime_UTR_premature_start_codon_gain ADAD2 2 46094 4.33896E-5 23047 0 8.87233E-6
16-84224837-A-G p.Met1? start_lost ADAD2 1 46082 2.17004E-5 23041 0 3.18654E-5
16-84224840-G-T p.Ala2Ser missense ADAD2 1 45986 2.17457E-5 22993 0 NA
16-84224844-C-T p.Ser3Leu missense ADAD2 1 45866 2.18026E-5 22933 0 NA
16-84224847-C-T p.Ala4Val missense ADAD2 1 45858 2.18064E-5 22929 0 NA
16-84224856-G-T p.Gly7Val missense ADAD2 22 45600 4.82456E-4 22800 0 6.25E-4
16-84224857-C-A p.Gly7Gly synonymous ADAD2 1 45326 2.20624E-5 22663 0 4.27829E-6
16-84224857-C-G p.Gly7Gly synonymous ADAD2 1 45326 2.20624E-5 22663 0 NA
16-84224866-C-T p.Asp10Asp synonymous ADAD2 2 44842 4.4601E-5 22421 0 9.44198E-6
16-84224868-A-T p.Asp11Val missense ADAD2 1 44672 2.23854E-5 22336 0 4.38385E-6
16-84224872-C-T p.Gly12Gly synonymous ADAD2 22 44462 4.94805E-4 22231 0 9.56389E-4
16-84224873-A-G p.Ser13Gly missense ADAD2 16 44354 3.60734E-4 22177 0 0.001875
16-84224877-G-A p.Arg14His missense ADAD2 1 44040 2.27066E-5 22020 0 3.68633E-5
16-84224883-A-G p.Lys16Arg missense ADAD2 1 43560 2.29568E-5 21780 0 0.0302498
16-84224885-C-T p.Pro17Ser missense ADAD2 4 45420 8.80669E-5 22710 0 NA
16-84224888-C-T p.Arg18Cys missense ADAD2 2 46524 4.29886E-5 23262 0 1.92582E-5
16-84224889-G-A p.Arg18His missense ADAD2 108 46354 0.0023299 23177 0 0.00392069
16-84224890-C-G p.Arg18Arg synonymous ADAD2 9 46696 1.92736E-4 23348 0 9.24097E-4
16-84224895-C-G p.Ala20Gly missense ADAD2 13 46698 2.78385E-4 23349 0 9.97389E-5
16-84224896-T-A p.Ala20Ala synonymous ADAD2 1 46676 2.14243E-5 23338 0 1.30325E-5
16-84224908-G-T p.Gln24His missense ADAD2 1 46320 2.15889E-5 23160 0 9.90275E-6
16-84224913-G-GC p.Gln28fs frameshift ADAD2 9 45704 1.96919E-4 22852 0 1.32329E-4
16-84224922-C-G p.Pro29Arg missense ADAD2 1 46262 2.1616E-5 23131 0 1.02097E-5
16-84224924-C-T p.Arg30Cys missense ADAD2 1 46192 2.16488E-5 23096 0 4.5996E-5
16-84224926-C-A p.Arg30Arg synonymous ADAD2 3 46096 6.50816E-5 23048 0 9.56511E-5
16-84224926-C-T p.Arg30Arg synonymous ADAD2 1 46096 2.16939E-5 23048 0 9.56511E-5
16-84224929-C-G p.Pro31Pro synonymous ADAD2 22 46098 4.77244E-4 23049 0 7.9694E-4
16-84224929-C-T p.Pro31Pro synonymous ADAD2 3 46102 6.50731E-5 23051 0 8.38348E-5
16-84224933-C-G p.Arg33Gly missense ADAD2 25 45836 5.45423E-4 22918 0 0.00188186
16-84224934-G-T p.Arg33Leu missense ADAD2 4 45730 8.74699E-5 22865 0 3.19122E-5
16-84224934-G-A p.Arg33Gln missense ADAD2 3 45730 6.56024E-5 22865 0 3.27531E-5
16-84224937-C-T p.Pro34Leu missense ADAD2 3 45756 6.55652E-5 22878 0 5.0813E-4
16-84224940-T-A p.Leu35Gln missense ADAD2 2 45526 4.39309E-5 22763 0 6.38447E-5
16-84224943-C-T p.Pro36Leu missense ADAD2 1 45592 2.19337E-5 22796 0 NA
16-84224947-C-A p.Ala37Ala synonymous ADAD2 11 45414 2.42216E-4 22707 0 2.86953E-4
16-84224947-C-G p.Ala37Ala synonymous ADAD2 11 45414 2.42216E-4 22707 0 0.00152439
16-84224953-C-T p.Ala39Ala synonymous ADAD2 1 45252 2.20985E-5 22626 0 3.26541E-5
16-84224955-A-C p.Gln40Pro missense ADAD2 32 45264 7.06964E-4 22632 0 0.00101626
16-84224956-A-G p.Gln40Gln synonymous ADAD2 8 45262 1.76749E-4 22631 0 1.27804E-4
16-84224958-G-A p.Ser41Asn missense ADAD2 4 45228 8.84408E-5 22614 0 3.19061E-5
16-84224965-GGGGCCC-G p.Gly44_Pro45del disruptive_inframe_deletion ADAD2 11 45178 2.43481E-4 22589 0 8.77732E-5
16-84224966-G-GA p.Gly44fs frameshift ADAD2 8 45182 1.77062E-4 22591 0 3.18959E-4
16-84224967-G-A p.Gly44Glu missense ADAD2 27733 44180 0.627727 22090 8816 0.698539
16-84224967-GGCCCGC-G p.Pro49_Ala50del conservative_inframe_deletion ADAD2 5 45114 1.1083E-4 22557 0 4.72144E-4
16-84224967-G-GCCCGC p.Ala46fs frameshift ADAD2 2 45114 4.43321E-5 22557 0 3.20431E-4
16-84224967-G-GGCCCGC p.Pro49_Ala50dup conservative_inframe_insertion ADAD2 4 45114 8.86643E-5 22557 1 9.29249E-4
16-84224972-G-T p.Ala46Ser missense ADAD2 1 44922 2.22608E-5 22461 0 NA
16-84224973-C-A p.Ala46Glu missense ADAD2 11 44866 2.45175E-4 22433 0 1.0917E-4
16-84224977-C-T p.Pro47Pro synonymous ADAD2 12 44882 2.67368E-4 22441 0 6.41849E-4
16-84224981-CCCGCGA-C p.Ala50_Thr51del disruptive_inframe_deletion ADAD2 31 44720 6.93202E-4 22360 0 0.00121158
16-84224984-G-C p.Ala50Pro missense ADAD2 1 44618 2.24125E-5 22309 0 NA
16-84224984-G-A p.Ala50Thr missense ADAD2 2 44618 4.4825E-5 22309 0 0.00204708
16-84224989-G-A p.Thr51Thr synonymous ADAD2 1 44666 2.23884E-5 22333 0 6.38447E-5
16-84224993-C-T p.Arg53Cys missense ADAD2 7 44570 1.57056E-4 22285 0 8.47601E-5
16-84225003-G-T p.Gly56Val missense ADAD2 2 44456 4.49883E-5 22228 0 NA
16-84225008-T-C p.Trp58Arg missense ADAD2 1 44340 2.2553E-5 22170 0 5.27426E-4
16-84225013-C-G p.Pro59Pro synonymous ADAD2 3 44462 6.74733E-5 22231 0 9.56938E-5
16-84225014-C-A p.Gln60Lys missense ADAD2 3 44514 6.73945E-5 22257 0 9.78665E-5
16-84225021-C-T p.Ser62Leu missense ADAD2 11 44546 2.46936E-4 22273 0 0.0027027
16-84225029-A-C p.Arg65Arg synonymous ADAD2 2 44656 4.47868E-5 22328 0 NA
16-84225048-C-T p.Ala71Val missense ADAD2 2 44540 4.49035E-5 22270 0 NA
16-84225049-A-G p.Ala71Ala synonymous ADAD2 6 44568 1.34626E-4 22284 0 NA
16-84225053-G-A p.Ala73Thr missense ADAD2 1 44516 2.24638E-5 22258 0 NA
16-84225057-G-A p.Gly74Glu missense ADAD2 1 44570 2.24366E-5 22285 0 8.75998E-4
16-84225059-G-A p.Val75Ile missense ADAD2 1 44600 2.24215E-5 22300 0 NA
16-84225070-G-A p.Leu78Leu synonymous ADAD2 1 44742 2.23504E-5 22371 0 3.18878E-5
16-84225070-G-C p.Leu78Leu synonymous ADAD2 1 44742 2.23504E-5 22371 0 9.56633E-5
16-84225080-C-T p.Arg82Trp missense ADAD2 5 44596 1.12118E-4 22298 0 1.91449E-4
16-84225082-G-A p.Arg82Arg synonymous ADAD2 1 44658 2.23924E-5 22329 0 7.3497E-5
16-84225083-G-A p.Ala83Thr missense ADAD2 1 44668 2.23874E-5 22334 0 NA
16-84225084-C-T p.Ala83Val missense ADAD2 3 44566 6.73159E-5 22283 0 0.00125471
16-84225085-G-A p.Ala83Ala synonymous ADAD2 1 44670 2.23864E-5 22335 0 7.32397E-6
16-84225086-TGGGAAAACTTGGGGGAACAGATG-T p.Asn86fs frameshift ADAD2 1 44602 2.24205E-5 22301 0 NA
16-84225089-G-A p.Glu85Lys missense ADAD2 1 44716 2.23634E-5 22358 0 NA
16-84225098-G-C p.Gly88Arg missense ADAD2 1 44696 2.23734E-5 22348 0 7.24407E-6
16-84225109-G-A p.Met91Ile missense ADAD2 1 44774 2.23344E-5 22387 0 6.73673E-5
16-84225118-C-A p.Ala94Ala synonymous ADAD2 1 44838 2.23025E-5 22419 0 2.13062E-5
16-84225120-C-T p.Pro95Leu missense ADAD2 1 44772 2.23354E-5 22386 0 NA
16-84225121-G-C p.Pro95Pro synonymous ADAD2 1 44936 2.22539E-5 22468 0 2.83374E-5
16-84225133-G-A p.Val99Val synonymous ADAD2 22 44836 4.90677E-4 22418 0 5.42403E-4
16-84225136-C-G p.Pro100Pro synonymous ADAD2 1 45008 2.22183E-5 22504 0 6.37918E-5
16-84225136-C-T p.Pro100Pro synonymous ADAD2 1 45008 2.22183E-5 22504 0 9.56877E-5
16-84225138-C-G p.Pro101Arg missense ADAD2 1 45052 2.21966E-5 22526 0 NA
16-84225140-G-T p.Ala102Ser missense ADAD2 1 44978 2.22331E-5 22489 0 NA
16-84225144-G-T p.Gly103Val missense ADAD2 1 45056 2.21946E-5 22528 0 6.97885E-6
16-84225156-C-T p.Pro107Leu missense ADAD2 6 45022 1.33268E-4 22511 0 8.61299E-4
16-84225162-A-G p.Lys109Arg missense ADAD2 1 45074 2.21857E-5 22537 0 6.90932E-6
16-84225167-C-G p.Pro111Ala missense ADAD2 2 45016 4.44286E-5 22508 0 NA
16-84225170-C-T p.Pro112Ser missense ADAD2 1 45024 2.22104E-5 22512 0 1.37874E-5
16-84225177-G-C p.Ser114Thr missense ADAD2 3 44838 6.69075E-5 22419 0 NA
16-84225182-GCCGTGT-G p.Val117_Ser118del conservative_inframe_deletion ADAD2 1 44570 2.24366E-5 22285 0 NA
16-84225184-C-T p.Ala116Ala synonymous ADAD2 924 44478 0.0207743 22239 16 0.035742
16-84225198-C-T p.Thr121Met missense ADAD2 2 43902 4.5556E-5 21951 0 0.0016129
16-84225198-C-G p.Thr121Arg missense ADAD2 1 43902 2.2778E-5 21951 0 6.5206E-5
16-84225199-G-A p.Thr121Thr synonymous ADAD2 1 43888 2.27853E-5 21944 0 NA
16-84225207-C-A p.Ala124Glu missense ADAD2 1 43356 2.30649E-5 21678 0 2.69237E-5
16-84225215-C-T p.Leu127Leu synonymous ADAD2 1 42960 2.32775E-5 21480 0 1.29735E-4
16-84225245-C-T p.Gln137* stop_gained ADAD2 1 41428 2.41383E-5 20714 0 3.18817E-5
16-84225245-C-A p.Gln137Lys missense ADAD2 1 41428 2.41383E-5 20714 0 NA
16-84225246-A-G p.Gln137Arg missense ADAD2 2 41388 4.83232E-5 20694 0 NA
16-84225247-G-C p.Gln137His missense ADAD2 9 41322 2.17802E-4 20661 0 0.00199357
16-84225249-C-T p.Pro138Leu missense ADAD2 1 41238 2.42495E-5 20619 0 NA
16-84225359-T-TATGCTC n.459-9_459-8insATGCTC splice_region ADAD2 2 33048 6.0518E-5 16524 0 NA
16-84227608-A-G c.419-4A>G splice_region ADAD2 4 80306 4.98095E-5 40153 0 1.2738E-4
16-84227616-A-C p.Lys141Asn missense ADAD2 7 80332 8.71384E-5 40166 0 2.59072E-4
16-84227624-A-C p.Lys144Thr missense ADAD2 2 80348 2.48917E-5 40174 0 NA
16-84227632-G-C p.Ala147Pro missense ADAD2 1 80348 1.24459E-5 40174 0 NA
16-84227633-C-A p.Ala147Asp missense ADAD2 1 80344 1.24465E-5 40172 0 NA
16-84227633-C-G p.Ala147Gly missense ADAD2 1 80344 1.24465E-5 40172 0 NA
16-84227634-CC-GT p.AlaPro147AlaSer missense ADAD2 1 80348 1.24459E-5 40174 0 NA
16-84227639-G-A p.Gly149Glu missense ADAD2 3 80358 3.73329E-5 40179 0 4.04263E-6
16-84227646-G-A p.Glu151Glu synonymous ADAD2 2 80362 2.48874E-5 40181 0 NA
16-84227651-T-A p.Leu153* stop_gained ADAD2 1 80356 1.24446E-5 40178 0 NA
16-84227672-A-C p.Gln160Pro missense ADAD2 2 80374 2.48837E-5 40187 0 3.18552E-5
16-84227678-A-G p.Glu162Gly missense ADAD2 2 80334 2.48961E-5 40167 0 3.40368E-4
16-84227682-G-T p.Val163Val synonymous ADAD2 1 80338 1.24474E-5 40169 0 NA
16-84227687-G-C p.Arg165Thr missense ADAD2 1 80346 1.24462E-5 40173 0 NA
16-84227696-T-C p.Leu168Pro missense ADAD2 1 80344 1.24465E-5 40172 0 6.37146E-5
16-84227706-A-G p.Thr171Thr synonymous ADAD2 2 80354 2.48899E-5 40177 0 5.18672E-4
16-84227709-G-T p.Gly172Gly synonymous ADAD2 1 80348 1.24459E-5 40174 0 6.37267E-5
16-84227713-C-T p.Arg174Cys missense ADAD2 1768 80300 0.0220174 40150 21 0.0279539
16-84227714-G-C p.Arg174Pro missense ADAD2 6 80330 7.46919E-5 40165 0 6.37105E-5
16-84227724-G-A p.Trp177* stop_gained ADAD2 1 80334 1.2448E-5 40167 0 NA
16-84227726-G-A p.Arg178Lys missense ADAD2 34 80342 4.23191E-4 40171 0 0.00149691
16-84227731-G-T p.Asp180Tyr missense ADAD2 1 80352 1.24452E-5 40176 0 NA
16-84227735-T-A p.Leu181Gln missense ADAD2 5 80372 6.22107E-5 40186 0 4.04793E-6
16-84227736-G-C p.Leu181Leu synonymous ADAD2 1 80382 1.24406E-5 40191 0 6.37105E-5
16-84227757-T-C p.Ser188Ser synonymous ADAD2 1 80542 1.24159E-5 40271 0 1.12188E-5
16-84227759-G-A p.Trp189* stop_gained ADAD2 1 80582 1.24097E-5 40291 0 NA
16-84227768-G-A p.Arg192His missense ADAD2 3 80750 3.71517E-5 40375 0 3.18634E-5
16-84227774-C-T p.Pro194Leu missense ADAD2 3 80940 3.70645E-5 40470 0 1.53186E-5
16-84227775-G-A p.Pro194Pro synonymous ADAD2 7 81062 8.63537E-5 40531 0 4.64814E-5
16-84227782-C-T p.Leu197Phe missense ADAD2 1 81380 1.2288E-5 40690 0 4.68494E-6
16-84227784-C-T p.Leu197Leu synonymous ADAD2 1 81462 1.22757E-5 40731 0 NA
16-84227786-T-C p.Ile198Thr missense ADAD2 55 81548 6.74449E-4 40774 0 7.30861E-4
16-84227788-T-C p.Cys199Arg missense ADAD2 1 81640 1.22489E-5 40820 0 3.18634E-5
16-84227797-G-C p.Glu202Gln missense ADAD2 1 82018 1.21924E-5 41009 0 6.25E-4
16-84227803-C-T p.Arg204Cys missense ADAD2 4 82190 4.86677E-5 41095 0 1.09676E-5
16-84227804-G-A p.Arg204His missense ADAD2 6 82228 7.29678E-5 41114 0 0.00207469
16-84227815-G-A p.Val208Met missense ADAD2 8 82448 9.70309E-5 41224 1 3.1839E-5
16-84227815-G-T p.Val208Leu missense ADAD2 1 82448 1.21289E-5 41224 0 1.15239E-5
16-84227823-G-T p.Glu210Asp missense ADAD2 186 82526 0.00225384 41263 0 0.00187199
16-84227824-T-C p.Leu211Leu synonymous ADAD2 7 82526 8.48218E-5 41263 0 3.59402E-5
16-84227834-A-G c.634+7A>G splice_region ADAD2 1 82588 1.21083E-5 41294 0 NA
16-84228051-C-T p.Pro213Leu missense ADAD2 1 81772 1.22291E-5 40886 0 8.32522E-6
16-84228052-C-A p.Pro213Pro synonymous ADAD2 1 81804 1.22243E-5 40902 0 2.16127E-5
16-84228052-C-T p.Pro213Pro synonymous ADAD2 1 81804 1.22243E-5 40902 0 4.15407E-6
16-84228055-C-T p.Cys214Cys synonymous ADAD2 1 81846 1.22181E-5 40923 0 2.89843E-5
16-84228058-C-T p.Phe215Phe synonymous ADAD2 3 81896 3.66318E-5 40948 0 2.05855E-5
16-84228061-C-A p.Pro216Pro synonymous ADAD2 1 81962 1.22008E-5 40981 0 NA
16-84228061-C-T p.Pro216Pro synonymous ADAD2 1 81960 1.22011E-5 40980 0 8.23316E-6
16-84228062-T-G p.Phe217Val missense ADAD2 2 81942 2.44075E-5 40971 0 NA
16-84228066-C-T p.Ser218Leu missense ADAD2 2 81938 2.44087E-5 40969 0 5.93519E-5
16-84228067-G-A p.Ser218Ser synonymous ADAD2 3 81970 3.65988E-5 40985 0 1.18057E-4
16-84228074-G-A p.Ala221Thr missense ADAD2 2 81992 2.43926E-5 40996 0 4.80677E-5
16-84228075-C-T p.Ala221Val missense ADAD2 28 81982 3.41538E-4 40991 0 5.03525E-4
16-84228084-A-T p.Asp224Val missense ADAD2 1 82032 1.21904E-5 41016 0 NA
16-84228089-G-A p.Val226Met missense ADAD2 2 82034 2.43801E-5 41017 0 4.05058E-6
16-84228094-C-T p.Val227Val synonymous ADAD2 1 82014 1.2193E-5 41007 0 3.18674E-5
16-84228099-C-T p.Pro229Leu missense ADAD2 2 82068 2.437E-5 41034 0 6.67799E-5
16-84228099-C-G p.Pro229Arg missense ADAD2 4 82068 4.87401E-5 41034 0 1.27462E-4
16-84228102-C-G p.Ala230Gly missense ADAD2 1 82016 1.21927E-5 41008 0 8.09042E-6
16-84228102-C-T p.Ala230Val missense ADAD2 1 82016 1.21927E-5 41008 0 1.90563E-5
16-84228103-G-C p.Ala230Ala synonymous ADAD2 3 82058 3.65595E-5 41029 0 1.27543E-4
16-84228103-G-A p.Ala230Ala synonymous ADAD2 29 82056 3.53417E-4 41028 0 5.04032E-4
16-84228105-G-T p.Gly231Val missense ADAD2 2 82032 2.43807E-5 41016 0 NA
16-84228106-C-T p.Gly231Gly synonymous ADAD2 3 82024 3.65747E-5 41012 0 3.81534E-5
16-84228111-C-A p.Ala233Glu missense ADAD2 1 82010 1.21936E-5 41005 0 1.21278E-5
16-84228112-G-A p.Ala233Ala synonymous ADAD2 1 82022 1.21919E-5 41011 0 3.18593E-5
16-84228124-G-A p.Thr237Thr synonymous ADAD2 11 82040 1.34081E-4 41020 0 9.00054E-5
16-84228130-C-G p.Ala239Ala synonymous ADAD2 17 82074 2.0713E-4 41037 0 3.82677E-4
16-84228138-A-T p.Gln242Leu missense ADAD2 4 82028 4.87638E-5 41014 0 3.20629E-5
16-84228144-C-T p.Ala244Val missense ADAD2 1 81920 1.2207E-5 40960 0 2.20872E-5
16-84228145-G-A p.Ala244Ala synonymous ADAD2 3 81908 3.66265E-5 40954 0 2.10182E-4
16-84228148-C-T p.Leu245Leu synonymous ADAD2 1 81918 1.22073E-5 40959 0 1.1274E-5
16-84228150-C-T p.Ser246Phe missense ADAD2 4 81926 4.88245E-5 40963 0 7.08741E-5
16-84228155-C-T p.Leu248Phe missense ADAD2 1 81870 1.22145E-5 40935 0 NA
16-84228159-G-A p.Cys249Tyr missense ADAD2 2 81782 2.44553E-5 40891 0 4.67847E-5
16-84228168-G-A p.Arg252Gln missense ADAD2 6 81698 7.34412E-5 40849 0 3.18492E-5
16-84228168-G-T p.Arg252Leu missense ADAD2 1 81700 1.22399E-5 40850 0 1.23396E-5
16-84228186-C-T p.Pro258Leu missense+splice_region ADAD2 1 81424 1.22814E-5 40712 0 8.82768E-6
16-84228188-G-C p.Glu259Gln missense+splice_region ADAD2 1 81372 1.22892E-5 40686 0 1.32725E-5
16-84228533-T-C c.776-6T>C splice_region ADAD2 1 82346 1.21439E-5 41173 0 NA
16-84228539-A-G p.Glu259Gly missense+splice_region ADAD2 1 82358 1.21421E-5 41179 0 NA
16-84228542-C-A p.Ser260Tyr missense ADAD2 2 82408 2.42695E-5 41204 0 4.62227E-5
16-84228551-C-T p.Thr263Ile missense ADAD2 2 82524 2.42354E-5 41262 0 NA
16-84228559-C-T p.Arg266Trp missense ADAD2 20 82616 2.42084E-4 41308 0 5.27333E-4
16-84228560-G-A p.Arg266Gln missense ADAD2 8 82598 9.68546E-5 41299 0 7.89321E-5
16-84228575-C-G p.Pro271Arg missense ADAD2 2 82740 2.41721E-5 41370 0 1.6067E-5
16-84228576-C-G p.Pro271Pro synonymous ADAD2 2 82740 2.41721E-5 41370 0 3.22664E-5
16-84228576-C-A p.Pro271Pro synonymous ADAD2 1 82740 1.20861E-5 41370 0 NA
16-84228583-G-A p.Val274Ile missense ADAD2 1 82784 1.20796E-5 41392 0 6.25E-4
16-84228588-T-G c.823+2T>G splice_donor ADAD2 4 82800 4.83092E-5 41400 0 NA
16-84228589-A-G c.823+3A>G splice_region ADAD2 7 82816 8.45247E-5 41408 0 3.63942E-5
16-84228591-G-A c.823+5G>A splice_region ADAD2 1 82830 1.20729E-5 41415 0 1.70914E-5
16-84228670-C-T c.824-5C>T splice_region ADAD2 1 82948 1.20557E-5 41474 0 2.50484E-5
16-84228671-G-A c.824-4G>A splice_region ADAD2 3 82942 3.61699E-5 41471 0 6.25E-4
16-84228673-A-G c.824-2A>G splice_acceptor ADAD2 1 82966 1.20531E-5 41483 0 NA
16-84228680-A-C p.Ile277Leu missense ADAD2 1 83004 1.20476E-5 41502 0 1.66853E-5
16-84228682-C-T p.Ile277Ile synonymous ADAD2 2 83004 2.40952E-5 41502 0 3.18756E-5
16-84228683-C-CA p.Leu278fs frameshift ADAD2 2 82998 2.4097E-5 41499 0 6.37267E-5
16-84228694-G-A p.Glu281Glu synonymous ADAD2 1 83004 1.20476E-5 41502 0 3.99652E-5
16-84228698-C-T p.Arg283Cys missense ADAD2 1 82964 1.20534E-5 41482 0 1.66892E-5
16-84228700-C-T p.Arg283Arg synonymous ADAD2 1 82970 1.20525E-5 41485 0 NA
16-84228704-G-A p.Ala285Thr missense ADAD2 4 82924 4.82369E-5 41462 0 9.56023E-5
16-84228704-G-T p.Ala285Ser missense ADAD2 2 82924 2.41185E-5 41462 0 NA
16-84228706-A-G p.Ala285Ala synonymous ADAD2 1 82930 1.20584E-5 41465 0 3.18674E-5
16-84228708-C-G p.Ala286Gly missense ADAD2 2 82920 2.41196E-5 41460 0 8.34725E-6
16-84228708-C-T p.Ala286Val missense ADAD2 4 82920 4.82393E-5 41460 0 3.18552E-5
16-84228709-G-T p.Ala286Ala synonymous ADAD2 3 82938 3.61716E-5 41469 0 3.3389E-5
16-84228709-G-A p.Ala286Ala synonymous ADAD2 2 82938 2.41144E-5 41469 0 6.37146E-5
16-84228712-G-A p.Leu287Leu synonymous ADAD2 1 82926 1.20589E-5 41463 0 NA
16-84228718-C-T p.Ser289Ser synonymous ADAD2 145 82886 0.00174939 41443 0 0.00388857
16-84228718-C-G p.Ser289Arg missense ADAD2 1 82888 1.20645E-5 41444 0 NA
16-84228721-C-T p.Ala290Ala synonymous ADAD2 4 82880 4.82625E-5 41440 0 3.18756E-5
16-84228722-G-A p.Gly291Ser missense ADAD2 19 82884 2.29236E-4 41442 0 6.25E-4
16-84228724-C-G p.Gly291Gly synonymous ADAD2 1 82884 1.20651E-5 41442 0 9.55962E-5
16-84228742-C-T p.Asp297Asp synonymous ADAD2 1 82796 1.20779E-5 41398 0 1.50885E-4
16-84228743-G-A p.Glu298Lys missense ADAD2 3 82786 3.6238E-5 41393 0 1.99958E-5
16-84228746-C-T p.Arg299Cys missense ADAD2 1 82766 1.20823E-5 41383 0 2.40033E-5
16-84228747-G-A p.Arg299His missense ADAD2 3 82750 3.62538E-5 41375 0 9.60192E-5
16-84228748-C-T p.Arg299Arg synonymous ADAD2 25 82750 3.02115E-4 41375 1 0.00144434
16-84228750-C-T p.Ser300Leu missense ADAD2 1 82744 1.20855E-5 41372 0 8.39208E-6
16-84228751-G-A p.Ser300Ser synonymous ADAD2 9 82738 1.08777E-4 41369 0 1.27453E-4
16-84228752-C-T p.Pro301Ser missense ADAD2 1 82746 1.20852E-5 41373 0 1.67889E-5
16-84228754-A-C p.Pro301Pro synonymous ADAD2 4 82752 4.83372E-5 41376 0 4.00067E-6
16-84228758-T-A p.Trp303Arg missense ADAD2 1 82762 1.20828E-5 41381 0 NA
16-84228765-G-A n.1347+1G>A splice_donor ADAD2 1 82728 1.20878E-5 41364 0 NA
16-84228770-G-C p.Gly307Arg missense ADAD2 24420 82446 0.296194 41223 3737 0.326595
16-84228771-G-A p.Gly307Glu missense ADAD2 3 82690 3.62801E-5 41345 0 8.48378E-6
16-84228772-G-T n.1347+8G>T splice_region ADAD2 1 82698 1.20922E-5 41349 0 6.25E-4
16-84228775-T-C p.Thr308Thr synonymous ADAD2 1 82658 1.2098E-5 41329 0 4.01059E-6
16-84228798-G-A p.Arg316Lys missense+splice_region ADAD2 179 82476 0.00217033 41238 0 0.00484416
16-84228799-G-A p.Arg316Arg splice_region+synonymous ADAD2 4 82460 4.85084E-5 41230 0 3.44834E-5
16-84228873-C-T p.Gly317Gly splice_region+synonymous ADAD2 12724 81744 0.155657 40872 1032 0.147367
16-84228875-G-T p.Trp318Leu missense ADAD2 2 81986 2.43944E-5 40993 0 NA
16-84228878-C-A p.Ala319Asp missense ADAD2 1 81898 1.22103E-5 40949 0 NA
16-84228879-C-T p.Ala319Ala synonymous ADAD2 2 81926 2.44123E-5 40963 0 4.47067E-5
16-84228881-T-A p.Val320Asp missense ADAD2 1 81924 1.22064E-5 40962 0 NA
16-84228884-C-G p.Ser321Cys missense ADAD2 9 81948 1.09826E-4 40974 0 3.21958E-4
16-84228884-C-T p.Ser321Phe missense ADAD2 1 81948 1.22029E-5 40974 0 NA
16-84228888-C-A p.Ala322Ala synonymous ADAD2 2 81914 2.44159E-5 40957 0 NA
16-84228891-C-T p.Pro323Pro synonymous ADAD2 7 81940 8.54284E-5 40970 0 3.18776E-5
16-84228891-C-G p.Pro323Pro synonymous ADAD2 1 81940 1.22041E-5 40970 0 4.09313E-6
16-84228896-G-T p.Cys325Phe missense ADAD2 2 81902 2.44194E-5 40951 0 NA
16-84228904-A-C p.Ile246Leu missense+splice_region ADAD2 19 81890 2.32019E-4 40945 0 1.92025E-4
16-84228905-T-C p.Ile328Thr missense ADAD2 2 81852 2.44343E-5 40926 0 NA
16-84228908-C-T p.Pro329Leu missense ADAD2 16 81788 1.95628E-4 40894 0 1.47913E-4
16-84228909-G-A p.Pro329Pro synonymous ADAD2 4 81730 4.89416E-5 40865 0 6.27758E-5
16-84228909-G-C p.Pro329Pro synonymous ADAD2 2 81730 2.44708E-5 40865 0 3.19509E-5
16-84228910-C-T p.Arg330Cys missense ADAD2 7 81688 8.56919E-5 40844 0 9.58405E-5
16-84228911-G-C p.Arg330Pro missense ADAD2 1 81698 1.22402E-5 40849 0 NA
16-84228915-C-T p.Ala331Ala synonymous ADAD2 1 81710 1.22384E-5 40855 0 NA
16-84228916-A-G p.Arg332Gly missense ADAD2 6 81692 7.34466E-5 40846 0 3.19673E-5
16-84228922-C-T p.His334Tyr missense ADAD2 1 81674 1.22438E-5 40837 0 3.19203E-5
16-84228924-C-T p.His334His synonymous ADAD2 4 81644 4.89932E-5 40822 0 4.1156E-6
16-84228925-G-A p.Val335Met missense ADAD2 2 81624 2.45026E-5 40812 0 9.87874E-5
16-84228927-G-A p.Val335Val synonymous ADAD2 1 81634 1.22498E-5 40817 0 NA
16-84228931-G-T p.Glu337* stop_gained ADAD2 1 81592 1.22561E-5 40796 0 NA
16-84228936-C-G p.Ile338Met missense ADAD2 1 81550 1.22624E-5 40775 0 4.12317E-6
16-84228940-A-G p.Lys340Glu missense ADAD2 1 81480 1.2273E-5 40740 0 NA
16-84228952-C-G p.Leu344Val missense ADAD2 2 81232 2.46208E-5 40616 0 NA
16-84228952-C-T p.Leu344Leu synonymous ADAD2 2 81232 2.46208E-5 40616 0 NA
16-84228977-C-A p.Ala352Asp missense ADAD2 3 80906 3.70801E-5 40453 0 2.10213E-5
16-84228977-C-T p.Ala352Val missense ADAD2 1 80906 1.236E-5 40453 0 4.20426E-6
16-84228981-C-G p.Gly353Gly synonymous ADAD2 1 80846 1.23692E-5 40423 0 5.06073E-4
16-84228982-T-C p.Trp354Arg missense ADAD2 1 80834 1.2371E-5 40417 0 8.39426E-6
16-84228993-C-T p.Phe357Phe synonymous ADAD2 7 80634 8.6812E-5 40317 0 9.56755E-5
16-84228995-C-T p.Ser358Leu missense ADAD2 4 80604 4.96253E-5 40302 0 6.37836E-5
16-84229024-C-G p.Leu368Val missense ADAD2 1 80482 1.24251E-5 40241 0 1.85491E-5
16-84229032-C-T p.Ile370Ile synonymous ADAD2 6 80336 7.46863E-5 40168 0 0.00100705
16-84229033-G-A p.Ala371Thr missense ADAD2 1 80244 1.2462E-5 40122 0 2.77213E-5
16-84229034-C-T p.Ala371Val missense ADAD2 1 80250 1.24611E-5 40125 0 6.38162E-5
16-84229036-C-T p.Arg372Cys missense ADAD2 2 80276 2.4914E-5 40138 0 6.25E-4
16-84229037-G-T p.Arg372Leu missense ADAD2 3 80176 3.74177E-5 40088 0 1.6641E-5
16-84229037-G-A p.Arg372His missense ADAD2 1 80176 1.24726E-5 40088 0 1.6641E-5
16-84229128-G-C c.1131-8G>C splice_region ADAD2 20 80956 2.47048E-4 40478 0 0.00125
16-84229129-C-T c.1131-7C>T splice_region ADAD2 2 81056 2.46743E-5 40528 0 3.19346E-5
16-84229129-C-A c.1131-7C>A splice_region ADAD2 2 81056 2.46743E-5 40528 0 NA
16-84229131-CCTAGGT-C p.Arg377fs frameshift ADAD2 1 81166 1.23204E-5 40583 0 NA
16-84229132-C-T c.1131-4C>T splice_region ADAD2 1 81208 1.23141E-5 40604 0 NA
16-84229145-C-T p.Phe380Phe synonymous ADAD2 1 81364 1.22904E-5 40682 0 NA
16-84229145-C-A p.Phe380Leu missense ADAD2 1 81364 1.22904E-5 40682 0 6.38978E-5
16-84229146-C-T p.Arg381Trp missense ADAD2 1 81366 1.22901E-5 40683 0 2.69677E-5
16-84229146-C-G p.Arg381Gly missense ADAD2 1 81366 1.22901E-5 40683 0 8.98925E-6
16-84229147-G-A p.Arg381Gln missense ADAD2 1 81342 1.22938E-5 40671 0 3.42991E-5
16-84229148-G-C p.Arg381Arg synonymous ADAD2 1 81334 1.2295E-5 40667 0 4.28677E-6
16-84229151-G-A p.Gln382Gln synonymous ADAD2 2 81420 2.4564E-5 40710 0 8.98747E-6
16-84229154-CCTG-C p.Leu385del conservative_inframe_deletion ADAD2 2 81492 2.45423E-5 40746 0 NA
16-84229155-C-T p.Leu384Leu synonymous ADAD2 5 81510 6.13422E-5 40755 0 1.2782E-4
16-84229164-A-G p.Thr387Ala missense ADAD2 1 81534 1.22648E-5 40767 0 3.19877E-5
16-84229167-CAG-C p.Gln388fs frameshift ADAD2 3 81592 3.67683E-5 40796 0 5.03525E-4
16-84229170-G-T p.Gly389Trp missense ADAD2 2 81616 2.4505E-5 40808 0 NA
16-84229172-G-A p.Gly389Gly synonymous ADAD2 192 81662 0.00235115 40831 1 0.00418771
16-84229173-G-A p.Gly390Ser missense ADAD2 1 81674 1.22438E-5 40837 0 3.19591E-5
16-84229174-G-A p.Gly390Asp missense ADAD2 5 81672 6.12205E-5 40836 0 1.79824E-5
16-84229174-G-C p.Gly390Ala missense ADAD2 1 81672 1.22441E-5 40836 0 3.19754E-5
16-84229177-C-A p.Pro391His missense ADAD2 7 81796 8.55788E-5 40898 0 6.38896E-5
16-84229189-A-T p.Glu395Val missense ADAD2 1 81994 1.2196E-5 40997 0 NA
16-84229196-C-T p.Ser397Ser synonymous ADAD2 2 82028 2.43819E-5 41014 0 1.25877E-5
16-84229196-C-A p.Ser397Ser synonymous ADAD2 2 82028 2.43819E-5 41014 0 4.1959E-6
16-84229197-G-A p.Val398Met missense ADAD2 2 82028 2.43819E-5 41014 0 3.58545E-5
16-84229200-C-T p.Leu399Leu synonymous ADAD2 17 82050 2.07191E-4 41025 0 3.83681E-4
16-84229200-C-G p.Leu399Val missense ADAD2 1 82050 1.21877E-5 41025 0 NA
16-84229202-G-C p.Leu399Leu synonymous ADAD2 2 82064 2.43712E-5 41032 0 1.13106E-4
16-84229207-C-T p.Pro401Leu missense ADAD2 114 82108 0.00138842 41054 1 0.011875
16-84229208-C-T p.Pro401Pro synonymous ADAD2 6 82102 7.30798E-5 41051 0 1.9728E-4
16-84229210-A-C p.Gln402Pro missense ADAD2 1 82080 1.21832E-5 41040 0 NA
16-84229220-C-T p.Pro405Pro synonymous ADAD2 16 82078 1.94937E-4 41039 0 0.00151057
16-84229221-G-A p.Gly406Arg missense ADAD2 9 82052 1.09687E-4 41026 0 4.17226E-5
16-84229223-A-G p.Gly406Gly synonymous ADAD2 1 81970 1.21996E-5 40985 0 1.79472E-5
16-84229224-C-T p.Pro407Ser missense ADAD2 1 82082 1.21829E-5 41041 0 NA
16-84229232-C-G p.Phe409Leu missense ADAD2 2 82090 2.43635E-5 41045 0 1.38131E-4
16-84229233-A-G p.Thr410Ala missense ADAD2 1 81938 1.22043E-5 40969 0 NA
16-84229235-C-T p.Thr410Thr synonymous ADAD2 3 82164 3.65123E-5 41082 0 6.4119E-5
16-84229241-G-T p.Lys412Asn missense ADAD2 2 82182 2.43362E-5 41091 0 3.59266E-5
16-84229244-C-A p.Pro413Pro synonymous ADAD2 5 82254 6.07873E-5 41127 0 8.09178E-5
16-84229246-G-T p.Arg414Leu missense ADAD2 1 82212 1.21637E-5 41106 0 4.23826E-6
16-84229246-G-A p.Arg414His missense ADAD2 2 82212 2.43273E-5 41106 0 0.00100705
16-84229247-C-T p.Arg414Arg synonymous ADAD2 6 82218 7.29767E-5 41109 0 6.42096E-5
16-84229248-G-A p.Val415Ile missense ADAD2 1 82176 1.2169E-5 41088 0 6.42591E-5
16-84229259-C-T p.His418His synonymous ADAD2 5 82118 6.0888E-5 41059 0 8.75358E-6
16-84229260-C-G p.Leu419Val missense ADAD2 3 82120 3.65319E-5 41060 0 1.81396E-4
16-84229282-AG-A p.Gly427fs frameshift ADAD2 2 81714 2.44756E-5 40857 0 NA
16-84229286-C-T p.Gly427Gly synonymous ADAD2 56 81514 6.86999E-4 40757 0 0.0020141
16-84229287-G-A p.Ala428Thr missense ADAD2 1 81460 1.2276E-5 40730 0 2.50033E-5
16-84229288-C-T p.Ala428Val missense ADAD2 36 81478 4.41837E-4 40739 0 6.91026E-4
16-84229289-G-A p.Ala428Ala synonymous ADAD2 2 81400 2.457E-5 40700 0 0.00151057
16-84229293-C-T p.Arg430Cys missense ADAD2 6 81360 7.37463E-5 40680 0 5.24469E-4
16-84229293-C-G p.Arg430Gly missense ADAD2 2 81360 2.45821E-5 40680 0 2.55587E-5
16-84229294-G-A p.Arg430His missense ADAD2 3 81312 3.68949E-5 40656 0 9.71943E-5
16-84229307-T-C c.1298+4T>C splice_region ADAD2 1 80978 1.2349E-5 40489 0 NA
16-84229309-C-G c.1298+6C>G splice_region ADAD2 100 80848 0.00123689 40424 1 0.00383191
16-84229310-A-C c.1298+7A>C splice_region ADAD2 1 80796 1.23769E-5 40398 0 NA
16-84229416-C-T c.1299-5C>T splice_region ADAD2 613 77530 0.00790662 38765 4 0.0180874
16-84229417-G-A c.1299-4G>A splice_region ADAD2 4 77484 5.16236E-5 38742 0 9.02818E-4
16-84229418-C-A c.1299-3C>A splice_region ADAD2 1 77572 1.28912E-5 38786 0 NA
16-84229421-C-T p.Tyr433Tyr splice_region+synonymous ADAD2 7 77576 9.02341E-5 38788 0 0.00100705
16-84229426-C-A p.Pro435His missense ADAD2 1 77566 1.28922E-5 38783 0 NA
16-84229429-C-T p.Pro436Leu missense ADAD2 2 77624 2.57652E-5 38812 0 9.61292E-5
16-84229430-C-T p.Pro436Pro synonymous ADAD2 125 77604 0.00161074 38802 1 0.00253189
16-84229430-C-A p.Pro436Pro synonymous ADAD2 61 77620 7.8588E-4 38810 0 8.97378E-4
16-84229432-C-T p.Thr437Ile missense ADAD2 1 77536 1.28972E-5 38768 0 NA
16-84229435-C-T p.Ser438Leu missense ADAD2 4 77474 5.16302E-5 38737 0 3.79914E-5
16-84229436-G-A p.Ser438Ser synonymous ADAD2 22109 74612 0.29632 37306 3056 0.345339
16-84229443-G-A p.Gly441Ser missense ADAD2 7 77520 9.02993E-5 38760 0 8.61615E-4
16-84229443-G-T p.Gly441Cys missense ADAD2 2 77520 2.57998E-5 38760 0 NA
16-84229444-G-T p.Gly441Val missense ADAD2 2 77330 2.58632E-5 38665 0 NA
16-84229449-C-T p.Pro443Ser missense ADAD2 1 77454 1.29109E-5 38727 0 NA
16-84229451-G-A p.Pro443Pro synonymous ADAD2 2 77170 2.59168E-5 38585 0 6.41313E-5
16-84229463-C-G p.Pro447Pro synonymous ADAD2 1 77130 1.29651E-5 38565 0 1.80232E-5
16-84229465-T-C p.Met448Thr missense ADAD2 1 76920 1.30005E-5 38460 0 NA
16-84229472-G-A p.Leu450Leu synonymous ADAD2 2 76560 2.61233E-5 38280 0 3.20287E-5
16-84229474-A-G p.Gln451Arg missense ADAD2 1 76672 1.30426E-5 38336 0 3.20533E-5
16-84229475-G-A p.Gln451Gln synonymous ADAD2 1 76634 1.3049E-5 38317 0 NA
16-84229477-C-T p.Ala452Val missense ADAD2 1 76508 1.30705E-5 38254 0 NA
16-84229480-A-G p.His453Arg missense ADAD2 1 76554 1.30627E-5 38277 0 8.43597E-6
16-84229487-C-T p.Leu455Leu synonymous ADAD2 1 75868 1.31808E-5 37934 0 5.04032E-4
16-84229488-G-C p.Gly456Arg missense ADAD2 1 75888 1.31773E-5 37944 0 4.22958E-6
16-84229493-G-A p.Gln457Gln synonymous ADAD2 2 75668 2.64313E-5 37834 0 NA
16-84229499-G-C p.Lys459Asn missense ADAD2 1 75654 1.32181E-5 37827 0 4.21987E-6
16-84229505-G-C p.Val461Val synonymous ADAD2 9 75608 1.19035E-4 37804 0 9.58711E-5
16-84229511-C-T p.Tyr463Tyr synonymous ADAD2 2 75000 2.66667E-5 37500 0 6.39059E-5
16-84229512-G-T p.Val464Leu missense ADAD2 20 74960 2.66809E-4 37480 0 6.38978E-4
16-84229512-G-A p.Val464Met missense ADAD2 1 74960 1.33404E-5 37480 0 6.25E-4
16-84229516-C-T p.Ala465Val missense ADAD2 3 74242 4.04084E-5 37121 0 4.25156E-5
16-84229517-G-A p.Ala465Ala synonymous ADAD2 3 74108 4.04815E-5 37054 0 3.19714E-4
16-84229522-C-G p.Ser467Trp missense ADAD2 2 74420 2.68745E-5 37210 0 NA
16-84229523-G-A p.Ser467Ser synonymous ADAD2 68 73994 9.18993E-4 36997 0 0.00142324
16-84229526-C-G p.Leu468Leu synonymous ADAD2 3 74650 4.01875E-5 37325 0 NA
16-84229538-C-T p.His472His synonymous ADAD2 1 74592 1.34063E-5 37296 0 3.19081E-5
16-84229548-C-T p.Leu476Leu synonymous ADAD2 1 75208 1.32965E-5 37604 0 1.76121E-5
16-84229555-C-T p.Ala478Val missense ADAD2 1 75398 1.3263E-5 37699 0 NA
16-84229557-A-G p.Ser479Gly missense ADAD2 1 75554 1.32356E-5 37777 0 4.25148E-6
16-84229559-T-C p.Ser479Ser synonymous ADAD2 55270 71686 0.771001 35843 21558 0.813767
16-84229564-A-G p.Lys481Arg missense ADAD2 1 75984 1.31607E-5 37992 0 NA
16-84229568-G-A p.Leu482Leu synonymous ADAD2 2 76284 2.62178E-5 38142 0 5.53328E-5
16-84229569-G-T p.Ala483Ser missense ADAD2 1 76152 1.31316E-5 38076 0 8.66326E-6
16-84229573-G-T p.Arg484Leu missense ADAD2 1 76426 1.30846E-5 38213 0 NA
16-84229580-C-T p.Ala486Ala synonymous ADAD2 22308 75174 0.296752 37587 3363 0.337009
16-84229584-C-T p.Leu488Leu synonymous ADAD2 1 77482 1.29062E-5 38741 0 NA
16-84229592-G-A p.Leu490Leu synonymous ADAD2 1 78022 1.28169E-5 39011 0 NA
16-84229601-C-A p.Ala493Ala synonymous ADAD2 1 78128 1.27995E-5 39064 0 1.69676E-5
16-84229612-A-G p.His497Arg missense ADAD2 1 78718 1.27036E-5 39359 0 0.00100705
16-84229613-C-T p.His497His synonymous ADAD2 1 78764 1.26962E-5 39382 0 4.23603E-6
16-84229618-T-G p.Val499Gly missense ADAD2 1 78746 1.26991E-5 39373 0 8.59712E-6
16-84229637-C-T p.Thr505Thr synonymous ADAD2 19 79506 2.38976E-4 39753 0 0.00125
16-84229643-C-A p.Leu507Leu synonymous ADAD2 2 79774 2.50708E-5 39887 0 NA
16-84229658-C-T c.1528+8C>T splice_region ADAD2 1 80140 1.24782E-5 40070 0 1.27673E-4
16-84229658-C-A c.1528+8C>A splice_region ADAD2 1 80140 1.24782E-5 40070 0 NA
16-84229732-G-C c.1529-1G>C splice_acceptor ADAD2 6 82064 7.31137E-5 41032 0 NA
16-84229740-A-G p.Ser512Ser synonymous ADAD2 1 82148 1.21732E-5 41074 0 8.36484E-6
16-84229746-C-T p.His514His synonymous ADAD2 1 82102 1.218E-5 41051 0 8.36708E-6
16-84229747-G-A p.Asp515Asn missense ADAD2 16 82116 1.94846E-4 41058 0 1.73465E-4
16-84229747-G-C p.Asp515His missense ADAD2 1 82116 1.21779E-5 41058 0 NA
16-84229749-C-T p.Asp515Asp synonymous ADAD2 1 82208 1.21643E-5 41104 0 4.12395E-6
16-84229754-C-T p.Pro517Leu missense ADAD2 3 82230 3.6483E-5 41115 0 4.11797E-5
16-84229755-G-A p.Pro517Pro synonymous ADAD2 1 82214 1.21634E-5 41107 0 6.58355E-5
16-84229767-G-A p.Arg521Arg synonymous ADAD2 2 82370 2.42807E-5 41185 0 NA
16-84229768-G-A p.Ala522Thr missense ADAD2 14 82256 1.702E-4 41128 0 6.25E-4
16-84229776-CACCCGGCCCT-C p.Thr525fs frameshift ADAD2 2 82416 2.42671E-5 41208 0 3.19203E-5
16-84229779-C-A p.Thr525Thr synonymous ADAD2 2 82472 2.42507E-5 41236 0 6.38121E-5
16-84229780-C-T p.Arg526Trp missense ADAD2 1 82450 1.21286E-5 41225 0 3.19203E-5
16-84229782-G-A p.Arg526Arg synonymous ADAD2 8 82416 9.70685E-5 41208 0 3.19326E-5
16-84229792-G-C p.Asp530His missense ADAD2 2 82532 2.4233E-5 41266 0 3.19264E-5
16-84229795-A-T p.Ser531Cys missense ADAD2 3 82520 3.63548E-5 41260 0 1.27787E-4
16-84229798-G-T p.Val532Phe missense ADAD2 1 82554 1.21133E-5 41277 0 NA
16-84229798-G-GTCC p.Leu533dup disruptive_inframe_insertion ADAD2 4 82554 4.84531E-5 41277 0 2.51374E-5
16-84229799-T-C p.Val532Ala missense ADAD2 1 82536 1.21159E-5 41268 0 NA
16-84229806-G-T p.Gly534Gly synonymous ADAD2 2 82500 2.42424E-5 41250 0 8.08336E-6
16-84229811-G-T p.Cys536Phe missense ADAD2 68 82490 8.24342E-4 41245 0 0.00191632
16-84229812-C-A p.Cys536* stop_gained ADAD2 2 82482 2.42477E-5 41241 0 NA
16-84229812-C-T p.Cys536Cys synonymous ADAD2 1 82482 1.21239E-5 41241 0 NA
16-84229822-C-G p.Pro540Ala missense ADAD2 3 82588 3.63249E-5 41294 0 9.5761E-5
16-84229825-T-TACG p.Tyr541_Val542insAsp disruptive_inframe_insertion ADAD2 4 82538 4.84625E-5 41269 0 1.51068E-4
16-84229827-C-T p.Tyr541Tyr synonymous ADAD2 2 82518 2.42371E-5 41259 0 6.72077E-5
16-84229828-G-A p.Val542Ile missense ADAD2 4 82478 4.84978E-5 41239 0 5.03525E-4
16-84229831-C-T p.Arg543Trp missense ADAD2 3 82462 3.63804E-5 41231 0 4.02405E-5
16-84229833-G-A p.Arg543Arg synonymous ADAD2 6 82440 7.27802E-5 41220 0 5.63457E-5
16-84229834-A-T p.Thr544Ser missense ADAD2 9 82410 1.0921E-4 41205 0 4.80615E-4
16-84229836-C-T p.Thr544Thr synonymous ADAD2 2 82448 2.42577E-5 41224 0 5.05102E-5
16-84229837-G-A p.Ala545Thr missense ADAD2 2 82412 2.42683E-5 41206 0 6.39591E-5
16-84229838-C-T p.Ala545Val missense ADAD2 1 82424 1.21324E-5 41212 0 NA
16-84229841-T-C p.Leu546Pro missense ADAD2 4 82460 4.85084E-5 41230 0 9.59263E-5
16-84229848-G-C p.Leu548Leu synonymous ADAD2 1 82444 1.21294E-5 41222 0 8.4458E-6
16-84229854-A-G p.Ala550Ala synonymous ADAD2 1 82408 1.21347E-5 41204 0 NA
16-84229856-G-A p.Gly551Glu missense ADAD2 6 82370 7.28421E-5 41185 0 4.03871E-6
16-84229862-C-T p.Pro553Leu missense ADAD2 1 82264 1.2156E-5 41132 0 2.01815E-5
16-84229863-G-A p.Pro553Pro synonymous ADAD2 1 82250 1.21581E-5 41125 0 3.19448E-5
16-84229864-G-C p.Val554Leu missense ADAD2 1 82252 1.21578E-5 41126 0 NA
16-84229868-C-T p.Ala555Val missense ADAD2 1 82250 1.21581E-5 41125 0 NA
16-84229869-C-T p.Ala555Ala synonymous ADAD2 34 82288 4.13183E-4 41144 0 2.87356E-4
16-84229870-C-T p.Pro556Ser missense ADAD2 2 82278 2.43078E-5 41139 1 NA
16-84229871-C-A p.Pro556His missense ADAD2 1 82268 1.21554E-5 41134 0 3.19366E-5
16-84229875-C-T p.Ser557Ser synonymous ADAD2 231 82234 0.00280906 41117 1 0.00383338
16-84229876-G-A p.Glu558Lys missense ADAD2 4 82170 4.86796E-5 41085 0 3.63516E-5
16-84229883-C-T p.Thr560Ile missense ADAD2 33 82238 4.01274E-4 41119 1 8.93826E-4
16-84229885-CCT-C p.Pro561fs frameshift ADAD2 2 82230 2.4322E-5 41115 0 3.19224E-5
16-84229885-C-T p.Pro561Ser missense ADAD2 1 82230 1.2161E-5 41115 0 8.57251E-6
16-84229886-C-G p.Pro561Arg missense ADAD2 1 82234 1.21604E-5 41117 0 4.04393E-6
16-84229892-C-T p.Thr563Ile missense ADAD2 801 82168 0.00974832 41084 3 0.00993103
16-84229892-C-G p.Thr563Ser missense ADAD2 2 82178 2.43374E-5 41089 0 NA
16-84229893-C-G p.Thr563Thr synonymous ADAD2 10 82174 1.21693E-4 41087 0 3.82897E-4
16-84229897-C-T p.Arg565Cys missense ADAD2 5 82136 6.08746E-5 41068 0 6.3861E-5
16-84229897-C-G p.Arg565Gly missense ADAD2 1 82136 1.21749E-5 41068 0 NA
16-84229898-G-A p.Arg565His missense ADAD2 4 82130 4.87033E-5 41065 0 9.57732E-5
16-84229911-C-T p.Leu569Leu synonymous ADAD2 1 82038 1.21895E-5 41019 0 4.05719E-6
16-84229913-A-T p.Asn570Ile missense ADAD2 1 81990 1.21966E-5 40995 0 NA
16-84229913-A-C p.Asn570Thr missense ADAD2 1 81990 1.21966E-5 40995 0 NA
16-84229913-A-G p.Asn570Ser missense ADAD2 1 81990 1.21966E-5 40995 0 NA
16-84229914-C-T p.Asn570Asn synonymous ADAD2 11 82004 1.3414E-4 41002 0 4.46742E-4
16-84229924-G-C p.Gly574Arg missense ADAD2 4 81864 4.88615E-5 40932 0 2.44214E-5
16-84229926-G-A p.Gly574Gly synonymous ADAD2 1 81830 1.22205E-5 40915 0 NA
16-84229938-C-T p.Ile578Ile synonymous ADAD2 6 81580 7.35474E-5 40790 0 3.19101E-5
16-84229938-C-G p.Ile578Met missense ADAD2 2 81580 2.45158E-5 40790 0 NA
16-84229939-G-A p.Glu579Lys missense ADAD2 1 81558 1.22612E-5 40779 0 NA
16-84229948-G-C p.Asp582His missense ADAD2 1 81426 1.22811E-5 40713 0 NA
16-84229953-G-A p.Val583Val synonymous ADAD2 4 81334 4.91799E-5 40667 0 NA
16-84229959-C-T p.Thr585Thr synonymous ADAD2 14 81090 1.72648E-4 40545 0 1.59459E-4
16-84229960-G-A p.Gly586Arg missense ADAD2 1 81094 1.23314E-5 40547 0 8.25668E-6
16-84229962-G-A p.Gly586Gly synonymous ADAD2 1 81084 1.23329E-5 40542 0 NA
16-84229963-C-T p.Arg587Cys missense ADAD2 1 80940 1.23548E-5 40470 0 3.57226E-5
16-84229965-T-A p.Arg587Arg synonymous ADAD2 134 80994 0.00165444 40497 1 0.00408554
16-84229966-G-A p.Val588Met missense ADAD2 8 81052 9.87021E-5 40526 0 5.03525E-4
16-84229984-G-A c.1772+8G>A splice_region ADAD2 1 80906 1.236E-5 40453 0 NA
16-84230252-G-C c.1773-1G>C splice_acceptor ADAD2 1 82602 1.21062E-5 41301 0 NA
16-84230256-C-T p.Ala592Ala synonymous ADAD2 58 82612 7.02077E-4 41306 0 0.00111593
16-84230257-G-A p.Ala593Thr missense ADAD2 33 82646 3.99293E-4 41323 0 4.7954E-4
16-84230274-C-T p.Ser598Ser synonymous ADAD2 2 82772 2.41628E-5 41386 0 NA
16-84230276-G-A p.Arg599His missense ADAD2 2 82790 2.41575E-5 41395 0 5.03525E-4
16-84230278-C-G p.Leu600Val missense ADAD2 9 82806 1.08688E-4 41403 0 3.18715E-5
16-84230287-GCCT-G p.Ser604del disruptive_inframe_deletion ADAD2 1 82782 1.20799E-5 41391 0 3.98527E-6
16-84230291-C-G p.Ser604Cys missense ADAD2 2 82804 2.41534E-5 41402 0 NA
16-84230299-C-T p.Arg607Trp missense ADAD2 4 82758 4.83337E-5 41379 0 5.03525E-4
16-84230299-C-G p.Arg607Gly missense ADAD2 1 82758 1.20834E-5 41379 0 9.56206E-5
16-84230300-G-A p.Arg607Gln missense ADAD2 48 82752 5.80046E-4 41376 0 5.71959E-4
16-84230310-C-T p.His610His synonymous ADAD2 4 82720 4.83559E-5 41360 0 3.18654E-5
16-84230315-C-T p.Ala612Val missense ADAD2 9 82616 1.08938E-4 41308 0 9.13559E-4
16-84230316-G-A p.Ala612Ala synonymous ADAD2 11 82598 1.33175E-4 41299 0 9.56816E-5
16-84230317-G-A p.Ala613Thr missense ADAD2 1 82564 1.21118E-5 41282 0 3.18756E-5
16-84230332-A-G p.Lys618Glu missense ADAD2 361 82456 0.00437809 41228 3 0.006875
16-84230339-A-G p.Tyr620Cys missense ADAD2 12 82320 1.45773E-4 41160 0 9.57916E-5
16-84230339-A-T p.Tyr620Phe missense ADAD2 2 82320 2.42954E-5 41160 0 NA
16-84230344-C-G p.Leu622Val missense ADAD2 1 82286 1.21527E-5 41143 0 NA
16-84230347-G-T p.Ala623Ser missense ADAD2 2323 82156 0.0282755 41078 38 0.0377644
16-84230348-C-A p.Ala623Asp missense ADAD2 1 82222 1.21622E-5 41111 0 8.32307E-6
16-84230357-C-T p.Thr626Ile missense ADAD2 1 82128 1.21761E-5 41064 0 3.18715E-5
16-84230361-C-T p.Tyr627Tyr synonymous ADAD2 6 82034 7.31404E-5 41017 0 1.27551E-4
16-84230361-C-G p.Tyr627* stop_gained ADAD2 1 82038 1.21895E-5 41019 0 4.00635E-6
16-84230362-G-C p.Glu628Gln missense ADAD2 2 81974 2.4398E-5 40987 0 6.37796E-5
16-84230362-G-A p.Glu628Lys missense ADAD2 1 81974 1.2199E-5 40987 0 8.01391E-6
16-84230366-C-T p.Ala629Val missense ADAD2 1 81882 1.22127E-5 40941 0 NA
16-84230376-T-C c.1893+3T>C splice_region ADAD2 39719 80598 0.492804 40299 10439 0.567593
16-84230376-TG-CA c.1893+3_1893+4delTGinsCA splice_region ADAD2 1 81798 1.22252E-5 40899 0 NA
16-84230376-T-G c.1893+3T>G splice_region ADAD2 1 81798 1.22252E-5 40899 0 NA
16-84230377-G-A c.1893+4G>A splice_region ADAD2 1 81746 1.2233E-5 40873 0 4.02963E-6
16-84230377-G-C c.1893+4G>C splice_region ADAD2 2 81746 2.4466E-5 40873 0 3.19061E-5
16-84230378-G-A c.1893+5G>A splice_region ADAD2 1 81736 1.22345E-5 40868 0 NA
16-84230378-G-T c.1893+5G>T splice_region ADAD2 1 81736 1.22345E-5 40868 0 NA
16-84230381-C-G c.1893+8C>G splice_region ADAD2 11 81658 1.34708E-4 40829 0 1.20192E-4
16-84230468-C-T c.1894-8C>T splice_region ADAD2 3 82064 3.65568E-5 41032 0 0.001875
16-84230469-G-C c.1894-7G>C splice_region ADAD2 1 82044 1.21886E-5 41022 0 NA
16-84230469-G-A c.1894-7G>A splice_region ADAD2 4 82044 4.87543E-5 41022 0 3.28024E-4
16-84230470-C-T c.1894-6C>T splice_region ADAD2 1 82060 1.21862E-5 41030 0 6.48105E-5
16-84230472-C-T c.1894-4C>T splice_region ADAD2 1 82056 1.21868E-5 41028 0 NA
16-84230472-C-A c.1894-4C>A splice_region ADAD2 2 82056 2.43736E-5 41028 0 NA
16-84230476-G-C p.Ala632Pro missense+splice_region ADAD2 1 82020 1.21921E-5 41010 0 1.84388E-5
16-84230486-A-G p.Tyr635Cys missense ADAD2 2 81872 2.44284E-5 40936 0 1.10108E-4
16-84230492-A-T p.Glu637Val missense ADAD2 1 81784 1.22273E-5 40892 0 NA
16-84230498-G-A p.Arg639His missense ADAD2 2 81564 2.45206E-5 40782 0 1.88067E-5
16-84230499-C-A p.Arg639Arg synonymous ADAD2 1 81574 1.22588E-5 40787 0 NA
16-84230500-A-C p.Arg640Arg synonymous ADAD2 25190 81098 0.310612 40549 4204 0.354192
16-84230500-A-T p.Arg640Trp missense ADAD2 29 81576 3.55497E-4 40788 0 2.15418E-4
16-84230501-G-A p.Arg640Lys missense ADAD2 4 81580 4.90316E-5 40790 0 NA
16-84230502-G-T p.Arg640Ser missense ADAD2 1 81562 1.22606E-5 40781 0 NA
16-84230503-C-T p.Gln641* stop_gained ADAD2 1 81554 1.22618E-5 40777 0 NA
16-84230505-G-C p.Gln641His missense ADAD2 1 81538 1.22642E-5 40769 0 4.60974E-6
16-84230508-G-C p.Leu642Leu synonymous ADAD2 2 81486 2.45441E-5 40743 0 2.92167E-5
16-84230513-T-C p.Leu644Pro missense ADAD2 2 81446 2.45561E-5 40723 0 2.91988E-5
16-84230535-G-C p.Leu651Leu synonymous ADAD2 1 81346 1.22932E-5 40673 0 4.37535E-5
16-84230539-G-C p.Ala653Pro missense ADAD2 2 81238 2.4619E-5 40619 0 NA
16-84230539-G-T p.Ala653Ser missense ADAD2 2 81238 2.4619E-5 40619 0 1.27413E-4
16-84230539-G-A p.Ala653Thr missense ADAD2 1 81238 1.23095E-5 40619 0 NA
16-84230549-C-T p.Ser656Leu missense ADAD2 1 81046 1.23387E-5 40523 0 3.18613E-5
16-84230550-G-A p.Ser656Ser synonymous ADAD2 1 81038 1.23399E-5 40519 0 4.59474E-5
16-84230553-G-A p.Lys657Lys synonymous ADAD2 1 81128 1.23262E-5 40564 0 NA
16-84230557-C-T p.Leu659Leu synonymous ADAD2 1 81116 1.2328E-5 40558 0 1.31676E-5
16-84230560-G-A p.Val660Met missense ADAD2 1 81068 1.23353E-5 40534 0 4.39889E-6
16-84230577-C-T p.Asn665Asn synonymous ADAD2 1 80780 1.23793E-5 40390 0 NA
16-84230579-G-T p.Ter666Leuext*? stop_lost ADAD2 1 80754 1.23833E-5 40377 0 NA