Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
22-51176664-A-G p.Met1? start_lost ACR 48 82288 5.83317E-4 41144 1 0.00168339
22-51176668-T-A p.Val2Asp missense ACR 1 82380 1.21389E-5 41190 0 NA
22-51176669-T-C p.Val2Val synonymous ACR 4 82406 4.85402E-5 41203 0 9.57916E-5
22-51176670-G-C p.Glu3Gln missense ACR 2 82400 2.42718E-5 41200 0 NA
22-51176675-G-A p.Met4Ile missense ACR 1 82424 1.21324E-5 41212 0 NA
22-51176686-C-T p.Ala8Val missense ACR 1 82526 1.21174E-5 41263 0 3.97807E-6
22-51176693-G-A p.Leu10Leu synonymous ACR 4 82534 4.84649E-5 41267 0 3.1902E-5
22-51176706-G-A p.Val15Met missense ACR 1 82480 1.21242E-5 41240 0 NA
22-51176710-C-T p.Ser16Phe missense ACR 3 82444 3.63883E-5 41222 0 5.17228E-5
22-51176711-C-T p.Ser16Ser synonymous ACR 6 82424 7.27943E-5 41212 0 4.13647E-5
22-51176712-G-A p.Val17Met missense ACR 3 82414 3.64016E-5 41207 0 5.04032E-4
22-51176724-G-T p.Asp21Tyr missense ACR 1 82240 1.21595E-5 41120 0 8.31808E-6
22-51176729-C-T p.Asn22Asn synonymous ACR 5 82116 6.08895E-5 41058 0 6.25E-4
22-51176730-G-A p.Ala23Thr missense ACR 1 82060 1.21862E-5 41030 0 3.97994E-6
22-51176734-C-T p.Thr24Met missense ACR 52 81962 6.3444E-4 40981 0 0.00165572
22-51176734-C-G p.Thr24Arg missense ACR 1 81964 1.22005E-5 40982 0 NA
22-51176735-G-C p.Thr24Thr synonymous ACR 2 81918 2.44147E-5 40959 0 5.97205E-5
22-51176739-G-GA p.Ala23fs frameshift ACR 4 81794 4.89033E-5 40897 0 1.99064E-5
22-51177695-C-T c.78-4C>T splice_region ACR 1 82082 1.21829E-5 41041 0 NA
22-51177715-CGGTTCA-C p.Phe33_Arg34del conservative_inframe_deletion ACR 1 82124 1.21767E-5 41062 0 5.04347E-6
22-51177722-G-A p.Arg34Lys missense ACR 1 82248 1.21584E-5 41124 0 NA
22-51177731-C-G p.Pro37Arg missense ACR 8 82344 9.71534E-5 41172 0 2.60092E-4
22-51177737-G-C p.Gly39Ala missense ACR 3 82348 3.64308E-5 41174 0 NA
22-51177739-G-A p.Gly40Ser missense ACR 1 82342 1.21445E-5 41171 0 NA
22-51177744-C-T p.Val41Val synonymous ACR 2 82366 2.42819E-5 41183 0 1.83651E-4
22-51177746-G-A p.Arg42His missense ACR 2 82398 2.42724E-5 41199 0 0.0025227
22-51177751-G-A p.Val44Ile missense ACR 3 82470 3.63769E-5 41235 0 6.81083E-5
22-51177754-G-A p.Gly45Ser missense ACR 1 82488 1.2123E-5 41244 0 1.6129E-5
22-51177756-C-T p.Gly45Gly synonymous ACR 57 82478 6.91093E-4 41239 1 0.0025227
22-51177757-G-A p.Gly46Arg missense ACR 2 82510 2.42395E-5 41255 0 4.43682E-5
22-51177757-G-C p.Gly46Arg missense ACR 1 82510 1.21197E-5 41255 0 NA
22-51177762-G-T p.Lys47Asn missense ACR 1 82506 1.21203E-5 41253 0 NA
22-51177763-G-T p.Ala48Ser missense ACR 4 82520 4.84731E-5 41260 0 3.1839E-5
22-51177788-G-C p.Trp56Ser missense ACR 2 82740 2.41721E-5 41370 0 NA
22-51177791-T-C p.Met57Thr missense ACR 1 82742 1.20858E-5 41371 0 NA
22-51177798-C-T p.Ser59Ser synonymous ACR 46 82782 5.55676E-4 41391 0 3.61882E-4
22-51177801-C-T p.Leu60Leu synonymous ACR 1 82860 1.20685E-5 41430 0 NA
22-51177809-T-G p.Phe63Cys missense ACR 1 82904 1.20621E-5 41452 0 NA
22-51177811-A-G p.Thr64Ala missense ACR 5 82910 6.03064E-5 41455 0 NA
22-51177812-C-T p.Thr64Met missense ACR 3 82918 3.61803E-5 41459 0 7.92966E-5
22-51177824-A-G p.His68Arg missense ACR 2 83110 2.40645E-5 41555 0 NA
22-51177834-C-T p.His71His synonymous ACR 2 83146 2.40541E-5 41573 0 NA
22-51177864-A-T p.Arg81Arg synonymous ACR 50 83162 6.01236E-4 41581 0 0.00165595
22-51177884-A-G p.His88Arg missense ACR 5 83160 6.01251E-5 41580 0 8.34697E-6
22-51177885-C-T p.His88His synonymous ACR 1 83162 1.20247E-5 41581 0 8.34822E-6
22-51177891-C-T p.Phe90Phe synonymous ACR 4 83138 4.81128E-5 41569 0 1.91339E-4
22-51177892-G-A p.Val91Ile missense ACR 3 83120 3.60924E-5 41560 0 1.99005E-5
22-51177894-C-T p.Val91Val synonymous ACR 5 83118 6.01554E-5 41559 0 4.17844E-5
22-51177906-C-T c.281+4C>T splice_region ACR 1 83078 1.20369E-5 41539 0 1.67555E-5
22-51177909-G-A c.281+7G>A splice_region ACR 1 83054 1.20404E-5 41527 0 8.37928E-6
22-51178116-C-T c.282-6C>T splice_region ACR 2 83160 2.405E-5 41580 0 6.6896E-4
22-51178120-A-C c.282-2A>C splice_acceptor ACR 1 83180 1.20221E-5 41590 0 1.06298E-5
22-51178124-A-G p.Asn95Ser missense+splice_region ACR 1 83184 1.20215E-5 41592 0 3.18552E-5
22-51178125-T-C p.Asn95Asn synonymous ACR 5 83178 6.0112E-5 41589 0 6.25E-4
22-51178131-T-C p.His97His synonymous ACR 1 83208 1.20181E-5 41604 0 NA
22-51178149-C-T p.Phe103Phe synonymous ACR 2 83226 2.4031E-5 41613 0 3.18532E-5
22-51178150-G-A p.Gly104Arg missense ACR 3 83230 3.60447E-5 41615 0 1.44872E-4
22-51178153-G-A p.Ala105Thr missense ACR 4 83238 4.8055E-5 41619 0 NA
22-51178156-A-C p.Lys106Gln missense ACR 1 83264 1.201E-5 41632 0 NA
22-51178161-A-G p.Glu107Glu synonymous ACR 1 83284 1.20071E-5 41642 0 NA
22-51178169-A-G p.Tyr110Cys missense ACR 1 83286 1.20068E-5 41643 0 NA
22-51178173-G-A p.Gly111Gly synonymous ACR 2 83290 2.40125E-5 41645 0 1.70226E-4
22-51178184-C-T p.Pro115Leu missense ACR 1 83304 1.20042E-5 41652 0 3.18451E-5
22-51178193-C-T p.Ala118Val missense ACR 2 83304 2.40085E-5 41652 0 3.52759E-5
22-51178194-G-A p.Ala118Ala synonymous ACR 23 83304 2.76097E-4 41652 0 0.00100705
22-51178210-T-G p.Tyr124Asp missense ACR 2 83316 2.4005E-5 41658 0 NA
22-51178224-C-A p.Ile128Ile synonymous ACR 58 83306 6.96228E-4 41653 0 0.00503525
22-51178247-C-A p.Ser136Tyr missense ACR 11 83306 1.32043E-4 41653 0 6.25E-4
22-51178250-C-T p.Ala137Val missense ACR 1 83296 1.20054E-5 41648 0 6.67501E-5
22-51178251-G-A p.Ala137Ala synonymous ACR 1 83294 1.20057E-5 41647 0 3.18756E-5
22-51178272-C-T p.Ala144Ala synonymous ACR 1 83300 1.20048E-5 41650 0 NA
22-51178275-C-T p.Leu145Leu synonymous ACR 4 83300 4.80192E-5 41650 0 8.30096E-6
22-51178284-C-T p.Ile148Ile synonymous ACR 28 83288 3.36183E-4 41644 1 2.079E-4
22-51178286-C-T p.Thr149Ile missense ACR 17 83290 2.04106E-4 41645 1 7.96889E-4
22-51178298-C-T p.Ser153Leu missense ACR 2 83294 2.40113E-5 41647 0 0.00100705
22-51178306-C-T p.Arg156Cys missense ACR 1 83284 1.20071E-5 41642 0 2.7902E-5
22-51178307-G-A p.Arg156His missense ACR 1 83284 1.20071E-5 41642 0 1.5944E-5
22-51178313-T-C p.Ile158Thr missense ACR 6 83262 7.20617E-5 41631 0 3.58446E-5
22-51178319-C-T p.Pro160Leu missense ACR 2 83268 2.40188E-5 41634 0 3.58317E-5
22-51178320-G-A p.Pro160Pro synonymous ACR 1 83268 1.20094E-5 41634 0 8.27623E-6
22-51178330-C-T p.Pro164Ser missense ACR 1 83226 1.20155E-5 41613 0 NA
22-51178354-A-AG p.Gly173fs frameshift ACR 1 83170 1.20236E-5 41585 0 NA
22-51178380-C-T p.Ala180Ala synonymous ACR 3 83020 3.61359E-5 41510 0 1.01537E-4
22-51178381-G-A p.Gly181Ser missense ACR 7 83038 8.42988E-5 41519 0 9.56572E-5
22-51178392-T-C p.Tyr184Tyr synonymous ACR 1 83020 1.20453E-5 41510 0 NA
22-51178413-T-C c.565+8T>C splice_region ACR 1 82840 1.20715E-5 41420 0 3.19305E-5
22-51179088-C-A p.Thr202Lys missense ACR 1 10532 9.49487E-5 5266 0 NA
22-51179091-G-A p.Gly203Asp missense ACR 1 10530 9.49668E-5 5265 0 NA
22-51179092-T-C p.Gly203Gly synonymous ACR 1 10530 9.49668E-5 5265 0 NA
22-51182481-G-A c.566-8G>A splice_region ACR 2 80436 2.48645E-5 40218 0 5.79528E-5
22-51182485-A-G c.566-4A>G splice_region ACR 34271 52088 0.657944 26044 12071 0.74315
22-51182486-T-C c.566-3T>C splice_region ACR 2 80852 2.47366E-5 40426 0 7.41938E-5
22-51182505-T-C p.Ser194Ser synonymous ACR 1 81564 1.22603E-5 40782 0 3.19326E-5
22-51182521-C-T p.Arg200Cys missense ACR 14 81686 1.71388E-4 40843 0 1.31811E-4
22-51182522-G-A p.Arg200His missense ACR 3 81710 3.67152E-5 40855 0 1.91473E-4
22-51182522-G-C p.Arg200Pro missense ACR 4 81710 4.89536E-5 40855 0 3.19122E-5
22-51182536-G-A p.Asp205Asn missense ACR 1 81756 1.22315E-5 40878 0 NA
22-51182538-C-A p.Asp205Glu missense ACR 4 81748 4.89309E-5 40874 0 3.29484E-5
22-51182541-G-A p.Leu206Leu synonymous ACR 1 81772 1.22291E-5 40886 0 5.47398E-4
22-51182543-A-T p.Asp207Val missense ACR 1 81766 1.223E-5 40883 0 NA
22-51182568-C-T p.Tyr215Tyr synonymous ACR 1 81838 1.22193E-5 40919 0 NA
22-51182575-C-T p.Arg218Cys missense ACR 1 81832 1.22202E-5 40916 0 1.64731E-5
22-51182576-G-A p.Arg218His missense ACR 1 81822 1.22217E-5 40911 0 5.83431E-4
22-51182577-C-T p.Arg218Arg synonymous ACR 2 81820 2.44439E-5 40910 0 5.76559E-5
22-51182578-G-A p.Val219Ile missense ACR 4 81824 4.88854E-5 40912 0 6.3804E-5
22-51182584-C-T p.Pro221Ser missense ACR 1 81812 1.22231E-5 40906 0 1.99092E-5
22-51182589-C-A p.Thr222Thr synonymous ACR 1 81802 1.22246E-5 40901 0 3.19203E-5
22-51182591-A-G p.Asn223Ser missense ACR 2 81790 2.44529E-5 40895 0 3.19183E-5
22-51182600-C-T p.Ala226Val missense ACR 7 81710 8.56688E-5 40855 0 1.11524E-4
22-51182601-G-A p.Ala226Ala synonymous ACR 2 81720 2.44738E-5 40860 0 2.47207E-5
22-51182608-C-G p.Pro229Ala missense ACR 4 81662 4.89824E-5 40831 0 3.58586E-5
22-51182622-C-T p.Ile233Ile synonymous ACR 2 81330 2.45912E-5 40665 0 2.47717E-5
22-51182623-G-A p.Asp234Asn missense ACR 1 81222 1.23119E-5 40611 0 3.98921E-6
22-51182627-C-A p.Thr235Asn missense ACR 2 81036 2.46804E-5 40518 0 NA
22-51182641-T-C c.711+7T>C splice_region ACR 1 80128 1.248E-5 40064 0 NA
22-51183074-T-C c.712-7T>C splice_region ACR 1 81018 1.23429E-5 40509 0 9.56816E-5
22-51183089-C-T p.Ser240Ser synonymous ACR 3 81136 3.6975E-5 40568 0 2.68803E-5
22-51183092-C-T p.Gly241Gly synonymous ACR 1 81148 1.23232E-5 40574 0 3.54918E-5
22-51183098-T-C p.Pro243Pro synonymous ACR 1 80624 1.24033E-5 40312 0 NA
22-51183119-G-C p.Lys250Asn missense ACR 1 80920 1.23579E-5 40460 0 9.57182E-5
22-51183125-C-T p.Ser252Ser synonymous ACR 8 80896 9.88924E-5 40448 0 7.66806E-5
22-51183137-C-T p.Val256Val synonymous ACR 1 80858 1.23674E-5 40429 0 2.00102E-5
22-51183138-G-A p.Val257Met missense ACR 3 80848 3.71067E-5 40424 0 6.38692E-5
22-51183157-G-C p.Gly263Ala missense ACR 1 80648 1.23996E-5 40324 0 NA
22-51183158-G-A p.Gly263Gly synonymous ACR 8 80642 9.92039E-5 40321 0 5.35647E-5
22-51183159-G-A p.Val264Ile missense ACR 1 80598 1.24073E-5 40299 0 2.00517E-5
22-51183160-T-C p.Val264Ala missense ACR 2 80494 2.48466E-5 40247 0 4.013E-5
22-51183171-C-T p.Arg268Cys missense ACR 3 80354 3.73348E-5 40177 0 2.02926E-5
22-51183180-C-T p.Arg271Cys missense ACR 1 79942 1.25091E-5 39971 0 9.86193E-5
22-51183182-C-G p.Arg271Arg synonymous ACR 1 79854 1.25229E-5 39927 0 NA
22-51183182-C-T p.Arg271Arg synonymous ACR 1 79854 1.25229E-5 39927 0 0.00118343
22-51183185-C-T p.Pro272Pro synonymous ACR 2 79740 2.50815E-5 39870 0 7.89135E-5
22-51183186-G-A p.Gly273Arg missense ACR 4 79650 5.02197E-5 39825 0 5.95238E-4
22-51183197-G-A p.Thr276Thr synonymous ACR 1 78868 1.26794E-5 39434 0 3.21543E-5
22-51183224-C-T p.Ile285Ile synonymous ACR 2 77536 2.57945E-5 38768 0 1.87779E-5
22-51183225-G-A p.Ala286Thr missense ACR 2 77278 2.58806E-5 38639 0 1.74072E-4
22-51183231-A-G p.Lys288Glu missense ACR 1 77122 1.29665E-5 38561 0 1.94742E-4
22-51183246-G-A p.Ala293Thr missense ACR 3 76750 3.90879E-5 38375 0 6.2128E-4
22-51183252-C-T p.Arg295Cys missense ACR 1 76604 1.30541E-5 38302 0 4.30034E-5
22-51183253-G-A p.Arg295His missense ACR 3 76576 3.91768E-5 38288 0 3.93623E-4
22-51183255-A-G p.Met296Val missense ACR 10383 24756 0.419413 12378 2095 0.798125
22-51183266-G-A p.Ser299Ser synonymous ACR 3 76036 3.9455E-5 38018 0 2.16135E-4
22-51183270-A-T p.Thr301Ser missense ACR 1 74986 1.33358E-5 37493 0 NA
22-51183276-C-G p.Pro303Ala missense ACR 2 75956 2.6331E-5 37978 0 3.68813E-5
22-51183291-C-T p.Arg308* stop_gained ACR 1 75920 1.31718E-5 37960 0 NA
22-51183292-G-A p.Arg308Gln missense ACR 1 75824 1.31884E-5 37912 0 7.50188E-5
22-51183298-C-T p.Pro310Leu missense ACR 1 75968 1.31634E-5 37984 0 7.26956E-5
22-51183302-G-A p.Pro311Pro synonymous ACR 2 75718 2.64138E-5 37859 0 4.35313E-5
22-51183305-T-A p.Ile312Ile synonymous ACR 2 75550 2.64725E-5 37775 0 3.79939E-5
22-51183314-C-T p.Pro315Pro synonymous ACR 1 75850 1.31839E-5 37925 0 3.69467E-5
22-51183359-G-A p.Pro330Pro synonymous ACR 2 67396 2.96754E-5 33698 0 1.47391E-4
22-51183360-C-T p.Pro331Ser missense ACR 1 67660 1.47798E-5 33830 0 6.31313E-4
22-51183363-C-T p.Pro332Ser missense ACR 3 66736 4.49532E-5 33368 0 4.53597E-5
22-51183378-C-T p.Pro337Ser missense ACR 1 57668 1.73406E-5 28834 0 9.00455E-5
22-51183381-C-G p.Arg338Gly missense ACR 2 55378 3.61154E-5 27689 0 7.09975E-6
22-51183389-G-A p.Pro340Pro synonymous ACR 1 47930 2.08638E-5 23965 0 2.69876E-5
22-51183407-C-G p.Pro346Pro synonymous ACR 1 36564 2.73493E-5 18282 0 NA
22-51183412-C-T p.Pro348Leu missense ACR 1 34374 2.90918E-5 17187 0 4.65527E-4
22-51183421-C-T p.Pro351Leu missense ACR 993 28908 0.0343504 14454 1 0.0974884
22-51183422-G-A p.Pro351Pro synonymous ACR 2 31232 6.40369E-5 15616 0 3.65657E-4
22-51183450-TTACCCC-T p.Leu361_Pro363delinsSer disruptive_inframe_deletion ACR 1 44434 2.25053E-5 22217 0 1.55376E-5
22-51183451-TACCCCC-T p.Pro369_Pro370del disruptive_inframe_deletion ACR 70 42686 0.00163988 21343 0 0.00426141
22-51183451-TACCCCCACCCCC-T p.Pro367_Pro370del disruptive_inframe_deletion ACR 3 42804 7.00869E-5 21402 1 4.71743E-5
22-51183452-A-ACCCCCCC p.Pro366fs frameshift ACR 1 40996 2.43926E-5 20498 0 NA
22-51183455-C-G p.Pro362Pro synonymous ACR 1 38296 2.61124E-5 19148 0 NA
22-51183456-C-T p.Pro363Ser missense ACR 2 37148 5.38387E-5 18574 0 3.38009E-4
22-51183458-A-C p.Pro363Pro synonymous ACR 29 29552 9.81321E-4 14776 0 0.427419
22-51183464-A-C p.Pro365Pro synonymous ACR 39 27144 0.00143678 13572 0 0.402985
22-51183470-A-C p.Pro367Pro synonymous ACR 27 26194 0.00103077 13097 0 0.267857
22-51183473-C-T p.Pro368Pro synonymous ACR 1 28570 3.50018E-5 14285 0 0.0025
22-51183474-C-A p.Pro369Thr missense ACR 2 28610 6.99056E-5 14305 0 0.0344828
22-51183474-C-CCACCTA p.Pro372_Ser373insThrPro disruptive_inframe_insertion ACR 1 28630 3.49284E-5 14315 0 NA
22-51183476-A-C p.Pro369Pro synonymous ACR 4 22650 1.766E-4 11325 0 0.0346535
22-51183478-CTA-C p.Pro372fs frameshift ACR 6 23084 2.5992E-4 11542 0 NA
22-51183478-CTACA-C p.Thr371fs frameshift ACR 20 23028 8.68508E-4 11514 0 1.78323E-5
22-51183479-T-C p.Pro370Pro synonymous ACR 2 22528 8.87784E-5 11264 0 NA
22-51183480-A-C p.Thr371Pro missense ACR 2 22748 8.79198E-5 11374 0 NA
22-51183482-A-C p.Thr371Thr synonymous ACR 6 22582 2.65698E-4 11291 0 NA
22-51183485-C-G p.Pro372Pro synonymous ACR 1 22884 4.36987E-5 11442 0 NA
22-51183486-T-C p.Ser373Pro missense ACR 3 22658 1.32404E-4 11329 0 NA
22-51183487-CATCTA-C p.Ser374fs frameshift ACR 1 22842 4.3779E-5 11421 0 NA
22-51183488-A-C p.Ser373Ser synonymous ACR 1 22518 4.44089E-5 11259 0 NA
22-51183489-T-C p.Ser374Pro missense ACR 1 22604 4.424E-5 11302 0 NA
22-51183575-C-A p.Asp402Glu missense ACR 9 36398 2.47266E-4 18199 0 0.0019802
22-51183575-C-T p.Asp402Asp synonymous ACR 1 36440 2.74424E-5 18220 0 1.67241E-5
22-51183576-G-A p.Gly403Arg missense ACR 16 36376 4.3985E-4 18188 0 0.00567108
22-51183586-A-G p.His406Arg missense ACR 1 37960 2.63435E-5 18980 0 8.27815E-4
22-51183616-A-T p.Glu416Val missense ACR 1 44618 2.24125E-5 22309 0 NA
22-51183619-T-C p.Leu417Pro missense ACR 1 44436 2.25043E-5 22218 0 NA
22-51183626-G-A p.Ser419Ser synonymous ACR 1 45162 2.21425E-5 22581 0 7.47049E-5