Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-36554504-G-GGATGGCCGCAGCGGC p.Ala7_Ala8insAlaAlaAlaMetAla disruptive_inframe_insertion ADPRHL2 2 43768 4.56955E-5 21884 0 2.36207E-4
1-36554513-C-T p.Ala3Val missense ADPRHL2 1 44864 2.22896E-5 22432 0 8.4548E-6
1-36554519-C-T p.Ala5Val missense ADPRHL2 7 45704 1.53159E-4 22852 0 0.00118343
1-36554520-G-A p.Ala5Ala synonymous ADPRHL2 2 46022 4.34575E-5 23011 0 3.18634E-5
1-36554532-G-A p.Ala9Ala synonymous ADPRHL2 1 47442 2.10784E-5 23721 0 NA
1-36554532-G-C p.Ala9Ala synonymous ADPRHL2 1 47442 2.10784E-5 23721 0 NA
1-36554534-C-T p.Ala10Val missense ADPRHL2 1 47674 2.09758E-5 23837 0 NA
1-36554534-C-G p.Ala10Gly missense ADPRHL2 1 47674 2.09758E-5 23837 0 NA
1-36554537-G-A p.Gly11Asp missense ADPRHL2 4 48136 8.30979E-5 24068 0 1.27527E-4
1-36554538-T-G p.Gly11Gly synonymous ADPRHL2 3 47762 6.28114E-5 23881 0 0.0585749
1-36554540-G-C p.Gly12Ala missense ADPRHL2 1 48372 2.06731E-5 24186 0 NA
1-36554543-G-A p.Gly13Glu missense ADPRHL2 1 48674 2.05448E-5 24337 0 3.58243E-5
1-36554550-C-T p.Gly15Gly synonymous ADPRHL2 1 49126 2.03558E-5 24563 0 3.19E-5
1-36554555-C-T p.Ala17Val missense ADPRHL2 1 50120 1.99521E-5 25060 0 9.85338E-6
1-36554565-C-T p.Leu20Leu synonymous ADPRHL2 1 52722 1.89674E-5 26361 0 1.10348E-5
1-36554579-G-T p.Gly25Val missense ADPRHL2 1 55060 1.8162E-5 27530 0 NA
1-36554582-G-A p.Cys26Tyr missense ADPRHL2 1 55836 1.79096E-5 27918 0 3.18715E-5
1-36554592-C-T p.Gly29Gly synonymous ADPRHL2 1 56994 1.75457E-5 28497 0 NA
1-36554606-A-G p.Asp34Gly missense ADPRHL2 1 58600 1.70648E-5 29300 0 3.18959E-5
1-36554613-G-T p.Val36Val synonymous ADPRHL2 4 59178 6.75927E-5 29589 0 0.00313152
1-36554614-G-C p.Gly37Arg missense ADPRHL2 1 59098 1.6921E-5 29549 0 NA
1-36554618-C-T p.Ser38Phe missense ADPRHL2 1 59510 1.68039E-5 29755 0 NA
1-36554641-G-T p.Val46Phe missense ADPRHL2 4 58416 6.84744E-5 29208 0 0.00256937
1-36554644-G-A p.Asp47Asn missense ADPRHL2 2 58068 3.44424E-5 29034 0 2.96033E-4
1-36554646-C-T p.Asp47Asp synonymous ADPRHL2 4 58066 6.88871E-5 29033 0 NA
1-36554655-A-T p.Ser50Ser synonymous ADPRHL2 1 57120 1.7507E-5 28560 0 NA
1-36554673-G-C p.Gln56His missense ADPRHL2 1 54380 1.83891E-5 27190 0 NA
1-36554686-G-A p.Asp61Asn missense ADPRHL2 8 50506 1.58397E-4 25253 0 0.00102881
1-36554691-C-T p.Pro62Pro synonymous ADPRHL2 5 49282 1.01457E-4 24641 0 6.37918E-5
1-36554694-C-T p.Gly63Gly synonymous ADPRHL2 1 48726 2.05229E-5 24363 0 NA
1-36554697-G-A p.Thr64Thr synonymous ADPRHL2 1 47710 2.096E-5 23855 0 2.16506E-5
1-36554698-C-T p.Pro65Ser missense ADPRHL2 1 47596 2.10102E-5 23798 0 NA
1-36554707-G-T p.Glu68* stop_gained ADPRHL2 1 45226 2.21112E-5 22613 0 NA
1-36554711-G-A p.Arg69Gln missense ADPRHL2 1 44458 2.24931E-5 22229 0 2.26347E-4
1-36554714-C-T p.Thr70Ile missense+splice_region ADPRHL2 2 43988 4.54669E-5 21994 0 NA
1-36554715-A-G p.Thr70Thr splice_region+synonymous ADPRHL2 1 43806 2.28279E-5 21903 0 NA
1-36554719-G-A c.211+3G>A splice_region ADPRHL2 1 43268 2.31118E-5 21634 0 NA
1-36556843-A-G c.212-2A>G splice_acceptor ADPRHL2 1 82556 1.2113E-5 41278 0 NA
1-36556858-C-T p.Tyr75Tyr synonymous ADPRHL2 1 82740 1.20861E-5 41370 0 7.95969E-6
1-36556863-A-G p.Asp77Gly missense ADPRHL2 1 82750 1.20846E-5 41375 0 8.31836E-6
1-36556867-C-T p.Asp78Asp synonymous ADPRHL2 1411 82742 0.017053 41371 62 0.0377581
1-36556884-C-T p.Ala84Val missense ADPRHL2 2 82708 2.41815E-5 41354 0 NA
1-36556921-C-T p.Asp96Asp synonymous ADPRHL2 22 82366 2.671E-4 41183 0 0.00100705
1-36556931-A-G p.Met100Val missense ADPRHL2 1 82238 1.21598E-5 41119 0 8.37942E-6
1-36556934-G-A p.Ala101Thr missense ADPRHL2 1 82108 1.21791E-5 41054 0 1.67994E-5
1-36556938-A-G p.His102Arg missense ADPRHL2 1 81984 1.21975E-5 40992 0 7.96991E-6
1-36556941-G-A p.Arg103Lys missense+splice_region ADPRHL2 2 81928 2.44117E-5 40964 0 NA
1-36557213-C-T c.309-6C>T splice_region ADPRHL2 1 81640 1.22489E-5 40820 0 NA
1-36557213-C-G c.309-6C>G splice_region ADPRHL2 2 81640 2.44978E-5 40820 0 NA
1-36557226-C-G p.Gln106Glu missense ADPRHL2 4 82394 4.85472E-5 41197 0 2.63398E-5
1-36557226-C-T p.Gln106* stop_gained ADPRHL2 1 82394 1.21368E-5 41197 0 8.77994E-6
1-36557229-G-A p.Glu107Lys missense ADPRHL2 1 82478 1.21244E-5 41239 0 4.12171E-6
1-36557236-A-G p.Lys109Arg missense ADPRHL2 1 82752 1.20843E-5 41376 0 1.59215E-4
1-36557237-G-C p.Lys109Asn missense ADPRHL2 1 82790 1.20788E-5 41395 0 1.22607E-5
1-36557239-AA-CC p.Lys110Thr missense ADPRHL2 1 82856 1.20691E-5 41428 0 NA
1-36557239-A-C p.Lys110Thr missense ADPRHL2 1 82856 1.20691E-5 41428 0 6.3678E-5
1-36557240-A-C p.Lys110Asn missense ADPRHL2 1 82866 1.20677E-5 41433 0 3.4437E-5
1-36557249-CAG-C p.Arg114fs frameshift ADPRHL2 1 83032 1.20435E-5 41516 0 3.18471E-5
1-36557249-C-T p.Asp113Asp synonymous ADPRHL2 1 83032 1.20435E-5 41516 0 NA
1-36557255-C-T p.Gly115Gly synonymous ADPRHL2 4 83096 4.81371E-5 41548 0 1.60114E-5
1-36557257-A-G p.Tyr116Cys missense ADPRHL2 1 83128 1.20296E-5 41564 0 3.18471E-5
1-36557276-T-A p.Thr122Thr synonymous ADPRHL2 2 83250 2.4024E-5 41625 0 3.18431E-5
1-36557284-A-G p.Lys125Arg missense ADPRHL2 1 83290 1.20062E-5 41645 0 7.9635E-6
1-36557307-C-T p.Arg133Cys missense ADPRHL2 28 83322 3.36046E-4 41661 0 1.98817E-4
1-36557308-G-A p.Arg133His missense ADPRHL2 3 83320 3.60058E-5 41660 0 3.18438E-5
1-36557310-G-A p.Asp134Asn missense ADPRHL2 1 83338 1.19993E-5 41669 0 3.98073E-6
1-36557328-C-T p.Arg140Trp missense ADPRHL2 2 83338 2.39987E-5 41669 0 3.58437E-5
1-36557329-G-A p.Arg140Gln missense ADPRHL2 1 83334 1.19999E-5 41667 0 4.97191E-5
1-36557336-G-A p.Gln142Gln synonymous ADPRHL2 1 83338 1.19993E-5 41669 0 2.48797E-5
1-36557343-G-A p.Gly145Arg missense ADPRHL2 2 83336 2.39992E-5 41668 0 3.18451E-5
1-36557357-T-A p.Tyr149* stop_gained ADPRHL2 1 83298 1.20051E-5 41649 0 NA
1-36557357-T-C p.Tyr149Tyr synonymous ADPRHL2 1 83298 1.20051E-5 41649 0 6.37267E-5
1-36557377-G-A p.Arg156Gln missense ADPRHL2 1 83248 1.20123E-5 41624 0 8.37942E-6
1-36557382-G-A p.Ala158Thr missense ADPRHL2 1 83236 1.2014E-5 41618 0 3.18471E-5
1-36557393-C-A p.Ser161Ser synonymous ADPRHL2 39 83220 4.68637E-4 41610 0 4.09454E-4
1-36557401-A-G p.Tyr164Cys missense ADPRHL2 61 83264 7.3261E-4 41632 0 6.11185E-4
1-36557409-G-A p.Val167Ile missense ADPRHL2 1 83252 1.20117E-5 41626 0 4.07525E-6
1-36557413-A-G p.Gln168Arg missense ADPRHL2 9 83248 1.08111E-4 41624 0 3.41577E-4
1-36557424-AAGGTATTCAGGGCGGGCTGGCTTCTGGGCTGTCCCCTTCCTCTTCTGCAGCAGGGCTTCTGTGACAGCAGGTCTCCTCCTCCCT-A p.Lys172fs frameshift ADPRHL2 8 83232 9.61169E-5 41616 0 NA
1-36557510-G-C c.517-1G>C splice_acceptor ADPRHL2 1 82664 1.20972E-5 41332 0 NA
1-36557524-C-T p.Ser177Leu missense ADPRHL2 12 82548 1.4537E-4 41274 2 4.05026E-6
1-36557525-G-A p.Ser177Ser synonymous ADPRHL2 1 82540 1.21153E-5 41270 0 9.56084E-5
1-36557528-C-G p.Ala178Ala synonymous ADPRHL2 1 82548 1.21142E-5 41274 0 NA
1-36557532-C-G p.Leu180Val missense ADPRHL2 1 82546 1.21145E-5 41273 0 NA
1-36557536-C-CA p.His182fs frameshift ADPRHL2 2 82550 2.42277E-5 41275 0 NA
1-36557540-C-T p.His182His synonymous ADPRHL2 1 82484 1.21236E-5 41242 0 3.36984E-5
1-36557541-G-C p.Ala183Pro missense ADPRHL2 1 82432 1.21312E-5 41216 0 4.01258E-6
1-36557541-G-A p.Ala183Thr missense ADPRHL2 2 82432 2.42624E-5 41216 0 8.02517E-6
1-36557544-T-G p.Ser184Ala missense ADPRHL2 1 82520 1.21183E-5 41260 0 NA
1-36557547-T-C p.Ser185Pro missense ADPRHL2 1 82562 1.21121E-5 41281 0 6.37308E-5
1-36557548-C-T p.Ser185Phe missense ADPRHL2 1 82564 1.21118E-5 41282 0 1.67272E-5
1-36557560-A-G p.Asn189Ser missense ADPRHL2 1 82674 1.20957E-5 41337 0 1.66268E-5
1-36557564-C-T p.Gly190Gly synonymous ADPRHL2 2 82594 2.42148E-5 41297 0 NA
1-36557565-G-A p.Ala191Thr missense ADPRHL2 1 82582 1.21092E-5 41291 0 6.37186E-5
1-36557577-G-T p.Ala195Ser missense ADPRHL2 13 82650 1.5729E-4 41325 0 1.4918E-4
1-36557582-G-A p.Leu196Leu synonymous ADPRHL2 3 82690 3.62801E-5 41345 0 8.28377E-6
1-36557594-G-A p.Leu200Leu synonymous ADPRHL2 1 82730 1.20875E-5 41365 0 1.65563E-5
1-36557607-G-A p.Glu205Lys missense ADPRHL2 3 82836 3.62161E-5 41418 0 3.18532E-5
1-36557614-C-T p.Ser207Phe missense ADPRHL2 1 82892 1.20639E-5 41446 0 NA
1-36557615-C-A p.Ser207Ser synonymous ADPRHL2 1 82902 1.20624E-5 41451 0 NA
1-36557618-C-T p.Ser208Ser synonymous ADPRHL2 7 82898 8.44411E-5 41449 0 6.37064E-5
1-36557619-G-A p.Glu209Lys missense ADPRHL2 5281 82730 0.0638342 41365 566 0.0981061
1-36557632-A-G p.Lys213Arg missense ADPRHL2 1 82950 1.20555E-5 41475 0 1.19419E-5
1-36557640-C-T p.Leu216Leu synonymous ADPRHL2 1 83008 1.2047E-5 41504 0 7.96362E-6
1-36557644-G-A p.Gly217Asp missense ADPRHL2 8 82992 9.63948E-5 41496 0 2.22987E-4
1-36557672-C-G p.Ala226Ala synonymous ADPRHL2 1 82982 1.20508E-5 41491 0 8.49358E-6
1-36557677-C-A p.Ser228Tyr missense ADPRHL2 3 82976 3.6155E-5 41488 0 8.5365E-6
1-36557679-G-A p.Val229Ile missense ADPRHL2 3 82928 3.6176E-5 41464 0 6.37227E-5
1-36557681-C-T p.Val229Val synonymous ADPRHL2 2 82942 2.41132E-5 41471 0 NA
1-36557684-G-A p.Leu230Leu synonymous ADPRHL2 1 82952 1.20552E-5 41476 0 NA
1-36557691-A-G p.Arg233Gly missense ADPRHL2 1 82918 1.20601E-5 41459 0 NA
1-36557697-TGAGTA-T c.701+3_701+7delGAGTA splice_region ADPRHL2 1 82874 1.20665E-5 41437 0 NA
1-36558017-C-G c.702-6C>G splice_region ADPRHL2 1 82832 1.20726E-5 41416 0 NA
1-36558017-C-T c.702-6C>T splice_region ADPRHL2 1 82832 1.20726E-5 41416 0 3.98565E-6
1-36558020-C-T c.702-3C>T splice_region ADPRHL2 1 82878 1.20659E-5 41439 0 NA
1-36558023-G-A p.Glu234Glu splice_region+synonymous ADPRHL2 1 82900 1.20627E-5 41450 0 1.66592E-5
1-36558033-G-T p.Glu238* stop_gained ADPRHL2 1 82988 1.20499E-5 41494 0 NA
1-36558035-G-A p.Glu238Glu synonymous ADPRHL2 23 83002 2.77102E-4 41501 0 0.0040282
1-36558039-C-T p.Arg240Cys missense ADPRHL2 1 83034 1.20433E-5 41517 0 4.97282E-5
1-36558040-G-A p.Arg240His missense ADPRHL2 5 83054 6.02018E-5 41527 0 2.22958E-4
1-36558044-A-G p.Pro241Pro synonymous ADPRHL2 1 83076 1.20372E-5 41538 0 2.48435E-5
1-36558050-C-T p.Ser243Ser synonymous ADPRHL2 1 83096 1.20343E-5 41548 0 NA
1-36558053-C-T p.Ser244Ser synonymous ADPRHL2 2 83112 2.40639E-5 41556 0 NA
1-36558054-C-T p.Arg245Cys missense ADPRHL2 1 83124 1.20302E-5 41562 0 3.18532E-5
1-36558083-C-A p.Asp254Glu missense ADPRHL2 2 83186 2.40425E-5 41593 1 NA
1-36558092-G-A p.Ser257Ser synonymous ADPRHL2 5 83180 6.01106E-5 41590 0 3.97776E-5
1-36558099-A-G p.Arg260Gly missense ADPRHL2 1 83156 1.20256E-5 41578 0 NA
1-36558104-G-A p.Glu261Glu synonymous ADPRHL2 2 83144 2.40547E-5 41572 0 6.36943E-5
1-36558696-A-G c.803-2A>G splice_acceptor ADPRHL2 1 82628 1.21024E-5 41314 0 NA
1-36558698-G-A p.Gly268Glu missense+splice_region ADPRHL2 1 82676 1.20954E-5 41338 0 NA
1-36558704-G-A p.Gly270Asp missense ADPRHL2 1 82774 1.20811E-5 41387 0 3.18431E-5
1-36558708-T-C p.Ile271Ile synonymous ADPRHL2 1 82834 1.20723E-5 41417 0 8.31214E-6
1-36558717-T-A p.Phe274Leu missense ADPRHL2 3 82960 3.6162E-5 41480 0 NA
1-36558722-C-T p.Ser276Leu missense ADPRHL2 2 83010 2.40935E-5 41505 0 8.26255E-6
1-36558732-C-T p.Thr279Thr synonymous ADPRHL2 1 83104 1.20331E-5 41552 0 3.29957E-5
1-36558733-G-A p.Ala280Thr missense ADPRHL2 1 83098 1.2034E-5 41549 0 0.00100705
1-36558736-A-G p.Ile281Val missense ADPRHL2 3 83142 3.60828E-5 41571 0 7.95748E-6
1-36558752-G-A p.Arg286His missense ADPRHL2 1 83176 1.20227E-5 41588 0 NA
1-36558763-C-T p.Pro290Ser missense ADPRHL2 1 83188 1.2021E-5 41594 0 3.18451E-5
1-36558791-A-G p.Asn299Ser missense ADPRHL2 5 83204 6.00933E-5 41602 0 5.03525E-4
1-36558801-A-G p.Gln302Gln synonymous ADPRHL2 2 83214 2.40344E-5 41607 0 NA
1-36558810-C-G p.Leu305Leu synonymous ADPRHL2 1 83218 1.20166E-5 41609 0 NA
1-36558827-TTGG-T p.Gly313del disruptive_inframe_deletion ADPRHL2 1 83226 1.20155E-5 41613 0 8.2375E-6
1-36558828-T-C p.Leu311Leu synonymous ADPRHL2 4 83228 4.80607E-5 41614 0 6.36862E-5
1-36558838-A-G p.Thr315Ala missense ADPRHL2 1 83194 1.20201E-5 41597 0 3.18471E-5
1-36558852-C-G p.Ala319Ala synonymous ADPRHL2 1 83174 1.2023E-5 41587 0 NA
1-36558858-G-A p.Met321Ile missense ADPRHL2 1 83168 1.20239E-5 41584 0 NA
1-36558864-G-A p.Gly323Gly synonymous ADPRHL2 1 83176 1.20227E-5 41588 0 5.03525E-4
1-36558868-A-G p.Ile325Val missense ADPRHL2 1 83164 1.20244E-5 41582 0 NA
1-36558883-T-C p.Tyr330His missense ADPRHL2 1 83190 1.20207E-5 41595 0 3.97643E-6
1-36558884-A-G p.Tyr330Cys missense ADPRHL2 2 83182 2.40437E-5 41591 0 2.3858E-5
1-36558889-A-C p.Met332Leu missense ADPRHL2 2 83184 2.40431E-5 41592 0 3.1841E-5
1-36558893-A-G p.Asp333Gly missense ADPRHL2 1 83188 1.2021E-5 41594 0 NA
1-36558899-T-G p.Val335Gly missense ADPRHL2 31 83190 3.72641E-4 41595 0 1.91034E-4
1-36558902-C-T p.Pro336Leu missense ADPRHL2 33 83202 3.96625E-4 41601 0 7.32298E-4
1-36558906-G-A p.Glu337Glu synonymous ADPRHL2 3 83210 3.60534E-5 41605 0 1.64747E-5
1-36558946-A-T p.Ile351Phe missense ADPRHL2 1 83222 1.20161E-5 41611 0 NA
1-36558964-C-T p.His357Tyr missense ADPRHL2 1 83226 1.20155E-5 41613 0 NA
1-36558967-C-T p.Arg358Cys missense ADPRHL2 5 83194 6.01005E-5 41597 0 4.78347E-5
1-36558968-G-A p.Arg358His missense ADPRHL2 5 83206 6.00918E-5 41603 0 3.58943E-5
1-36558968-G-T p.Arg358Leu missense ADPRHL2 16 83206 1.92294E-4 41603 0 3.50296E-4
1-36558975-C-T p.Phe360Phe synonymous ADPRHL2 4 83192 4.80815E-5 41596 0 1.1978E-5
1-36558984-T-G p.Ser363Arg missense ADPRHL2 3 83158 3.60759E-5 41579 0 2.52487E-5
1-36558985-T-G p.Ter364Glyext*? stop_lost ADPRHL2 1 83152 1.20262E-5 41576 0 3.18492E-5
1-36558987-A-G p.Ter364Trpext*? stop_lost ADPRHL2 1 83134 1.20288E-5 41567 0 3.18492E-5
1-36558987-A-T p.Ter364Cysext*? stop_lost ADPRHL2 1 83134 1.20288E-5 41567 0 NA