Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-114076950-C-A c.*187G>T splice_region ADPRHL1 3 70794 4.23765E-5 35397 0 NA
13-114077146-C-A p.Glu270Asp missense ADPRHL1 1 83164 1.20244E-5 41582 0 NA
13-114077153-G-C p.Ser268Cys missense ADPRHL1 1 83166 1.20241E-5 41583 0 1.66747E-5
13-114077159-C-T p.Arg266His missense ADPRHL1 2 83130 2.40587E-5 41565 0 2.79973E-5
13-114077160-G-A p.Arg266Cys missense ADPRHL1 2 83144 2.40547E-5 41572 0 3.33428E-5
13-114077163-A-G p.Tyr265His missense ADPRHL1 1 83078 1.20369E-5 41539 0 NA
13-114077164-G-T p.Leu264Leu synonymous ADPRHL1 1 83062 1.20392E-5 41531 0 NA
13-114077166-G-C p.Leu264Val missense ADPRHL1 1 83066 1.20386E-5 41533 0 3.9999E-6
13-114077169-C-T p.Ala263Thr missense ADPRHL1 2 83048 2.40825E-5 41524 0 0.0025
13-114077170-C-T p.Ala262Ala synonymous ADPRHL1 3 83096 3.61028E-5 41548 0 2.00003E-5
13-114077171-G-A p.Ala262Val missense ADPRHL1 4 83056 4.81603E-5 41528 0 1.27413E-4
13-114077172-C-T p.Ala262Thr missense ADPRHL1 373 83078 0.00448976 41539 1 0.00545009
13-114077185-C-T p.Leu257Leu synonymous ADPRHL1 2 83178 2.40448E-5 41589 0 NA
13-114077193-C-T p.Glu255Lys missense ADPRHL1 1 83178 1.20224E-5 41589 0 NA
13-114077213-T-A p.Tyr248Phe missense ADPRHL1 1 83142 1.20276E-5 41571 0 1.99856E-5
13-114077220-C-G p.Gly246Arg missense ADPRHL1 1 83128 1.20296E-5 41564 0 NA
13-114077229-C-T p.Val243Ile missense ADPRHL1 5 83088 6.01772E-5 41544 0 6.37186E-5
13-114077230-G-A p.Leu242Leu synonymous ADPRHL1 3 83072 3.61133E-5 41536 0 4.79689E-5
13-114077231-A-C p.Leu242Arg missense ADPRHL1 47 83074 5.65761E-4 41537 0 0.004375
13-114077240-C-T p.Gly239Asp missense ADPRHL1 1 83028 1.20441E-5 41514 0 1.666E-5
13-114077241-C-T p.Gly239Ser missense ADPRHL1 1 83016 1.20459E-5 41508 0 1.66608E-5
13-114077242-G-A p.Tyr238Tyr synonymous ADPRHL1 1 83022 1.2045E-5 41511 0 5.83139E-5
13-114077245-C-T p.Leu237Leu synonymous ADPRHL1 2 83020 2.40906E-5 41510 0 1.03974E-4
13-114077250-A-T p.Leu236Met missense ADPRHL1 2 82940 2.41138E-5 41470 0 8.33167E-6
13-114077253-C-G p.Gly235Arg missense ADPRHL1 1 82906 1.20619E-5 41453 0 NA
13-114077254-G-T p.Phe234Leu missense ADPRHL1 1 82894 1.20636E-5 41447 0 4.00269E-6
13-114077254-G-A p.Phe234Phe synonymous ADPRHL1 2 82894 2.41272E-5 41447 0 5.03525E-4
13-114077264-C-T p.Gly231Asp missense ADPRHL1 1 82792 1.20785E-5 41396 0 NA
13-114077271-T-C p.Ile229Val missense ADPRHL1 2 82752 2.41686E-5 41376 0 NA
13-114077278-C-T p.Thr226Thr synonymous ADPRHL1 2 82522 2.4236E-5 41261 0 5.04032E-4
13-114077279-G-A p.Thr226Met missense ADPRHL1 1 82498 1.21215E-5 41249 0 NA
13-114077283-C-T p.Ala225Thr missense ADPRHL1 1 82392 1.21371E-5 41196 0 9.55779E-5
13-114077284-C-T p.Ala224Ala synonymous ADPRHL1 1 82368 1.21406E-5 41184 0 1.59297E-4
13-114077285-G-A p.Ala224Val missense ADPRHL1 3 82288 3.64573E-5 41144 0 8.36344E-6
13-114077294-C-A p.Gly221Val missense+splice_region ADPRHL1 1 82112 1.21785E-5 41056 0 3.18573E-5
13-114077295-C-T c.662-1G>A splice_acceptor ADPRHL1 2 82130 2.43516E-5 41065 0 1.2488E-4
13-114077299-A-G c.662-5T>C splice_region ADPRHL1 1 81934 1.22049E-5 40967 0 NA
13-114077301-C-T c.662-7G>A splice_region ADPRHL1 12 81898 1.46524E-4 40949 0 1.67884E-4
13-114077301-C-A c.662-7G>T splice_region ADPRHL1 1 81898 1.22103E-5 40949 0 8.39419E-6
13-114077302-G-A c.662-8C>T splice_region ADPRHL1 3 81786 3.66811E-5 40893 0 4.19999E-5
13-114077302-G-C c.662-8C>G splice_region ADPRHL1 1 81786 1.2227E-5 40893 0 NA
13-114078526-T-C c.661+6A>G splice_region ADPRHL1 1 83074 1.20375E-5 41537 0 4.00461E-6
13-114078532-C-G p.Gly221Arg missense+splice_region ADPRHL1 2 83098 2.4068E-5 41549 0 1.91253E-4
13-114078545-G-A p.Ala216Ala synonymous ADPRHL1 52 83128 6.25541E-4 41564 1 0.00114767
13-114078549-C-T p.Arg215Gln missense ADPRHL1 2 83134 2.40575E-5 41567 0 6.67534E-5
13-114078550-G-A p.Arg215Trp missense ADPRHL1 7 83134 8.42014E-5 41567 0 5.04032E-4
13-114078555-C-G p.Cys213Ser missense ADPRHL1 1 83150 1.20265E-5 41575 0 NA
13-114078557-C-A p.Leu212Leu synonymous ADPRHL1 1 83146 1.2027E-5 41573 0 NA
13-114078558-A-C p.Leu212Arg missense ADPRHL1 2234 83088 0.0268872 41544 37 0.0233329
13-114078568-A-G p.Trp209Arg missense ADPRHL1 2 83170 2.40471E-5 41585 0 NA
13-114078589-G-A p.Leu202Phe missense ADPRHL1 1 83176 1.20227E-5 41588 0 NA
13-114078592-C-T p.Ala201Thr missense ADPRHL1 4 83170 4.80943E-5 41585 0 3.18695E-5
13-114078593-G-A p.Asp200Asp synonymous ADPRHL1 667 83174 0.00801933 41587 20 0.0147209
13-114078596-A-G p.Tyr199Tyr synonymous ADPRHL1 1 83180 1.20221E-5 41590 0 3.5979E-5
13-114078604-T-C p.Ile197Val missense ADPRHL1 2 83182 2.40437E-5 41591 0 3.18776E-5
13-114078612-G-T p.Ala194Asp missense ADPRHL1 3 83170 3.60707E-5 41585 0 0.00100806
13-114078616-C-T p.Asp193Asn missense ADPRHL1 1 83170 1.20236E-5 41585 0 4.16563E-5
13-114078617-G-A p.His192His synonymous ADPRHL1 15 83170 1.80353E-4 41585 0 2.31918E-4
13-114078619-G-A p.His192Tyr missense ADPRHL1 2 83166 2.40483E-5 41583 0 1.66628E-5
13-114078624-C-T p.Arg190Gln missense ADPRHL1 6 83158 7.21518E-5 41579 0 5.83217E-5
13-114078625-G-A p.Arg190* stop_gained ADPRHL1 5 83156 6.0128E-5 41578 0 5.04032E-4
13-114078627-C-T p.Arg189Lys missense ADPRHL1 2 83158 2.40506E-5 41579 0 NA
13-114078636-C-T p.Arg186Gln missense ADPRHL1 7 83122 8.42136E-5 41561 0 8.33278E-6
13-114078644-C-T p.Ser183Ser synonymous ADPRHL1 3 83086 3.61072E-5 41543 0 1.08333E-4
13-114078645-G-A p.Ser183Leu missense ADPRHL1 13 83056 1.56521E-4 41528 0 0.00100806
13-114078645-G-C p.Ser183Trp missense ADPRHL1 1 83056 1.20401E-5 41528 0 8.33361E-6
13-114078662-G-T p.Thr177Thr splice_region+synonymous ADPRHL1 1 83016 1.20459E-5 41508 0 NA
13-114078668-A-T c.529-4T>A splice_region ADPRHL1 6 82958 7.23258E-5 41479 0 6.00673E-5
13-114079359-A-G c.528+8T>C splice_region ADPRHL1 2 81806 2.44481E-5 40903 0 6.37267E-5
13-114079361-G-C c.528+6C>G splice_region ADPRHL1 1 81856 1.22166E-5 40928 0 NA
13-114079374-C-T p.Arg174Lys missense ADPRHL1 37 82232 4.49946E-4 41116 0 2.43373E-4
13-114079375-T-C p.Arg174Gly missense ADPRHL1 2 82234 2.43208E-5 41117 0 NA
13-114079375-T-G p.Arg174Arg synonymous ADPRHL1 1 82234 1.21604E-5 41117 0 3.98937E-6
13-114079378-C-T p.Glu173Lys missense ADPRHL1 1 82316 1.21483E-5 41158 0 3.98861E-6
13-114079381-C-T p.Glu172Lys missense ADPRHL1 1 82412 1.21342E-5 41206 0 8.30951E-6
13-114079384-C-T p.Ala171Thr missense ADPRHL1 1 82506 1.21203E-5 41253 0 NA
13-114079388-A-G p.Tyr169Tyr synonymous ADPRHL1 1 82644 1.21001E-5 41322 0 8.30799E-6
13-114079393-T-C p.Asn168Asp missense ADPRHL1 2 82774 2.41622E-5 41387 0 3.9873E-6
13-114079394-G-T p.Asp167Glu missense ADPRHL1 3 82792 3.62354E-5 41396 0 6.25E-4
13-114079397-G-A p.Pro166Pro synonymous ADPRHL1 39 82860 4.70673E-4 41430 0 0.00100705
13-114079408-CT-C p.Ala163fs frameshift ADPRHL1 16 83006 1.92757E-4 41503 0 0.00151057
13-114079408-C-T p.Ala163Thr missense ADPRHL1 1 83006 1.20473E-5 41503 0 NA
13-114079412-ATT-A p.Asn161fs frameshift ADPRHL1 1 83048 1.20412E-5 41524 0 NA
13-114079414-T-G p.Asn161His missense ADPRHL1 2 83068 2.40767E-5 41534 0 NA
13-114079417-C-A p.Glu160* stop_gained ADPRHL1 1 83068 1.20383E-5 41534 0 NA
13-114079442-C-T p.Glu151Glu synonymous ADPRHL1 1 83122 1.20305E-5 41561 0 NA
13-114079457-C-A p.Trp146Cys missense ADPRHL1 1 83116 1.20314E-5 41558 0 3.18796E-5
13-114079474-A-G p.Tyr141His missense ADPRHL1 1 83058 1.20398E-5 41529 0 8.32917E-6
13-114079496-T-C c.401-2A>G splice_acceptor ADPRHL1 2 82802 2.4154E-5 41401 0 NA
13-114079500-C-G c.401-6G>C splice_region ADPRHL1 1 82708 1.20907E-5 41354 0 NA
13-114079502-T-C c.401-8A>G splice_region ADPRHL1 1 82608 1.21054E-5 41304 0 NA
13-114083260-G-A c.400+7C>T splice_region ADPRHL1 14 72164 1.94003E-4 36082 0 1.91144E-4
13-114083271-C-T p.Thr132Thr synonymous ADPRHL1 3 73384 4.08808E-5 36692 0 1.20492E-4
13-114083271-C-A p.Thr132Thr synonymous ADPRHL1 1 73384 1.36269E-5 36692 0 3.18573E-5
13-114083272-G-A p.Thr132Met missense ADPRHL1 1 73462 1.36125E-5 36731 0 7.22979E-5
13-114083275-T-A p.His131Leu missense ADPRHL1 1 73782 1.35534E-5 36891 0 NA
13-114083278-C-T p.Arg130Gln missense ADPRHL1 2 74014 2.70219E-5 37007 0 1.20403E-5
13-114083279-G-A p.Arg130Trp missense ADPRHL1 8 74048 1.08038E-4 37024 0 5.03525E-4
13-114083291-T-C p.Arg126Gly missense ADPRHL1 5 75044 6.66276E-5 37522 0 2.23086E-4
13-114083304-T-C p.Ala121Ala synonymous ADPRHL1 2 75436 2.65125E-5 37718 0 NA
13-114083307-C-CA p.Ala121fs frameshift ADPRHL1 1 75520 1.32415E-5 37760 0 3.18532E-5
13-114083316-C-T p.Ala117Ala synonymous ADPRHL1 1053 75384 0.0139685 37692 29 0.0377474
13-114083320-C-T p.Arg116Gln missense ADPRHL1 4 75798 5.27718E-5 37899 0 6.25E-4
13-114083321-G-A p.Arg116Trp missense ADPRHL1 4 75702 5.28388E-5 37851 0 5.08251E-5
13-114083328-G-C p.Asp113Glu missense ADPRHL1 1 76004 1.31572E-5 38002 0 6.25E-4
13-114083333-T-C p.Arg112Gly missense ADPRHL1 1 75872 1.31801E-5 37936 0 8.50557E-6
13-114083337-C-G p.Trp110Cys missense ADPRHL1 1 75942 1.31679E-5 37971 0 4.01281E-5
13-114083338-C-T p.Trp110* stop_gained ADPRHL1 2 75930 2.63401E-5 37965 0 8.52646E-6
13-114083338-C-G p.Trp110Ser missense ADPRHL1 1 75930 1.317E-5 37965 0 8.02562E-6
13-114083338-C-A p.Trp110Leu missense ADPRHL1 1 75930 1.317E-5 37965 0 8.52646E-6
13-114083347-A-G p.Leu107Pro missense ADPRHL1 1 75814 1.31902E-5 37907 0 NA
13-114083348-G-A p.Leu107Leu synonymous ADPRHL1 1 75814 1.31902E-5 37907 0 NA
13-114083350-G-A p.Pro106Leu missense ADPRHL1 1 75836 1.31863E-5 37918 0 8.60037E-6
13-114083363-C-T p.Ala102Thr missense ADPRHL1 5 75712 6.60397E-5 37856 0 1.27518E-4
13-114083364-G-T p.Ala101Ala synonymous ADPRHL1 2 75626 2.64459E-5 37813 0 NA
13-114083364-GGC-TGT p.Ala101Thr missense ADPRHL1 1 75628 1.32226E-5 37814 0 NA
13-114083366-C-T p.Ala101Thr missense ADPRHL1 1 75470 1.32503E-5 37735 0 3.18959E-5
13-114083367-G-A p.Phe100Phe synonymous ADPRHL1 1 75582 1.32307E-5 37791 0 1.21058E-5
13-114083370-C-T p.Ser99Ser synonymous ADPRHL1 1 75578 1.32314E-5 37789 0 1.76725E-5
13-114083385-C-T p.Thr94Thr synonymous ADPRHL1 1 75022 1.33294E-5 37511 0 3.64691E-5
13-114083386-G-A p.Thr94Met missense ADPRHL1 2 75086 2.66361E-5 37543 0 3.66555E-5
13-114083407-C-G p.Gly87Ala missense+splice_region ADPRHL1 1 73594 1.35881E-5 36797 0 6.91611E-5
13-114083413-G-C c.260-6C>G splice_region ADPRHL1 1 73160 1.36687E-5 36580 0 4.58396E-6
13-114083415-G-T c.260-8C>A splice_region ADPRHL1 1 72704 1.37544E-5 36352 0 NA
13-114087993-GTGGTTGTGGGTCATCCGGCCGCACTCCACGCTGACCTCCCTCCCACCCCCCGCCCACACTTACCTGTGGGA-G p.His84fs frameshift ADPRHL1 21 41386 5.07418E-4 20693 0 3.64625E-4
13-114088005-CATCCGGCCGCACTCCACGCTGACCTCCCTCCCACCCCCCGCCCACACTTACCTGTGGGATGGT-C p.Asn83_Gly87delinsSer splice_donor ADPRHL1 1 77796 1.28541E-5 38898 0 NA
13-114088063-GA-G p.Thr86fs frameshift ADPRHL1 1 80740 1.23854E-5 40370 0 NA
13-114088074-G-A p.Thr81Ile missense ADPRHL1 1774 80824 0.0219489 40412 26 0.0357759
13-114088080-C-T p.Arg79Gln missense ADPRHL1 1 80972 1.23499E-5 40486 0 3.61122E-5
13-114088081-G-A p.Arg79Trp missense ADPRHL1 5 81012 6.17192E-5 40506 0 5.84611E-5
13-114088083-C-T p.Gly78Asp missense ADPRHL1 1 81022 1.23423E-5 40511 0 4.528E-6
13-114088084-C-T p.Gly78Ser missense ADPRHL1 1 81048 1.23384E-5 40524 0 2.08281E-5
13-114088085-G-A p.Cys77Cys synonymous ADPRHL1 201 81048 0.00248001 40524 0 0.0055668
13-114088088-C-T p.Glu76Glu synonymous ADPRHL1 3 81074 3.70032E-5 40537 0 4.53441E-6
13-114088089-T-A p.Glu76Val missense ADPRHL1 4 81066 4.93425E-5 40533 0 3.1955E-5
13-114088093-C-T p.Val75Met missense ADPRHL1 2 81072 2.46694E-5 40536 0 2.1312E-5
13-114088094-G-A p.Ser74Ser synonymous ADPRHL1 2 81056 2.46743E-5 40528 0 9.57916E-5
13-114088101-T-G p.Glu72Ala missense ADPRHL1 1 81136 1.2325E-5 40568 0 NA
13-114088102-C-T p.Glu72Lys missense ADPRHL1 3 81150 3.69686E-5 40575 0 4.44543E-5
13-114088105-T-C p.Ile71Val missense ADPRHL1 7 81196 8.62111E-5 40598 0 6.68747E-5
13-114088112-C-T p.Glu68Glu synonymous ADPRHL1 1 81224 1.23116E-5 40612 0 NA
13-114088119-C-T p.Arg66Gln missense ADPRHL1 7 81258 8.61454E-5 40629 0 1.5048E-4
13-114088120-G-A p.Arg66Trp missense ADPRHL1 3 81264 3.69167E-5 40632 0 5.04923E-5
13-114088133-G-C p.Tyr61* stop_gained ADPRHL1 1 81340 1.22941E-5 40670 0 NA
13-114088137-C-T p.Arg60Gln missense ADPRHL1 14 81362 1.72071E-4 40681 0 4.1431E-5
13-114088138-G-A p.Arg60Trp missense ADPRHL1 4 81350 4.91703E-5 40675 0 1.20948E-4
13-114088141-G-A p.Leu59Leu synonymous ADPRHL1 1 81384 1.22874E-5 40692 0 5.06586E-4
13-114088144-C-T p.Gly58Ser missense ADPRHL1 2 81380 2.45761E-5 40690 0 3.07522E-5
13-114088145-G-A p.Ile57Ile synonymous ADPRHL1 2 81364 2.45809E-5 40682 0 0.00151976
13-114088147-T-C p.Ile57Val missense ADPRHL1 1 81394 1.22859E-5 40697 0 3.18613E-5
13-114088152-A-G p.Met55Thr missense ADPRHL1 1 81410 1.22835E-5 40705 0 0.0025
13-114088163-G-A p.Ala51Ala synonymous ADPRHL1 4 81404 4.91376E-5 40702 0 9.55171E-5
13-114088166-C-T p.Ala50Ala synonymous ADPRHL1 1 81382 1.22877E-5 40691 0 7.80701E-5
13-114088167-G-A p.Ala50Val missense ADPRHL1 4 81380 4.91521E-5 40690 0 1.27405E-4
13-114088175-C-A p.Gly47Gly synonymous ADPRHL1 26 81390 3.1945E-4 40695 0 0.00125
13-114088180-A-T p.Ser46Thr missense+splice_region ADPRHL1 1 81400 1.2285E-5 40700 0 NA
13-114088182-C-T p.Gly45Asp missense+splice_region ADPRHL1 14 81378 1.72037E-4 40689 0 4.57161E-4
13-114088186-T-A c.134-4A>T splice_region ADPRHL1 1 81384 1.22874E-5 40692 0 NA
13-114098735-C-G c.133+5G>C splice_region ADPRHL1 42 83250 5.04504E-4 41625 0 9.55414E-4
13-114098748-T-C p.Asn42Ser missense ADPRHL1 1 83286 1.20068E-5 41643 0 3.97988E-6
13-114098752-A-G p.Phe41Leu missense ADPRHL1 1 83304 1.20042E-5 41652 0 2.47672E-5
13-114098753-C-T p.Pro40Pro synonymous ADPRHL1 2 83304 2.40085E-5 41652 0 3.18796E-5
13-114098754-G-A p.Pro40Leu missense ADPRHL1 4 83310 4.80134E-5 41655 0 NA
13-114098762-C-T p.Trp37* stop_gained ADPRHL1 1 83320 1.20019E-5 41660 0 NA
13-114098767-C-T p.Ala36Thr missense ADPRHL1 4 83334 4.79996E-5 41667 0 3.29712E-5
13-114098768-G-A p.Leu35Leu synonymous ADPRHL1 3 83342 3.59963E-5 41671 0 5.03525E-4
13-114098778-T-C p.Asn32Ser missense ADPRHL1 1 83352 1.19973E-5 41676 0 NA
13-114098781-T-C p.Asn31Ser missense ADPRHL1 1 83356 1.19967E-5 41678 0 NA
13-114098786-C-T p.Lys29Lys synonymous ADPRHL1 2 83368 2.399E-5 41684 0 3.97649E-6
13-114098789-T-C p.Leu28Leu synonymous ADPRHL1 1 83364 1.19956E-5 41682 0 3.18471E-5
13-114098792-C-T p.Gln27Gln synonymous ADPRHL1 1 83364 1.19956E-5 41682 0 1.19292E-5
13-114098802-C-G p.Gly24Ala missense ADPRHL1 6 83368 7.19701E-5 41684 0 NA
13-114098802-C-T p.Gly24Asp missense ADPRHL1 1 83368 1.1995E-5 41684 0 NA
13-114098802-C-A p.Gly24Val missense ADPRHL1 1 83368 1.1995E-5 41684 0 3.9763E-6
13-114098820-T-G p.Asp18Ala missense ADPRHL1 1 83356 1.19967E-5 41678 0 NA
13-114098823-G-A p.Pro17Leu missense ADPRHL1 1 83358 1.19964E-5 41679 0 NA
13-114098826-C-T p.Arg16Gln missense ADPRHL1 2 83360 2.39923E-5 41680 0 6.36862E-5
13-114098827-G-A p.Arg16Trp missense ADPRHL1 1 83364 1.19956E-5 41682 0 6.37024E-5
13-114098828-G-C p.Arg15Arg synonymous ADPRHL1 1 83362 1.19959E-5 41681 0 NA
13-114098829-C-T p.Arg15His missense ADPRHL1 10 83360 1.19962E-4 41680 0 1.91107E-4
13-114098830-G-A p.Arg15Cys missense ADPRHL1 3 83364 3.59868E-5 41682 0 4.9421E-5
13-114098839-G-C p.Leu12Val missense ADPRHL1 2 83370 2.39894E-5 41685 0 NA
13-114098848-C-T p.Val9Ile missense ADPRHL1 3 83362 3.59876E-5 41681 0 5.03525E-4
13-114098849-G-C p.Ile8Met missense ADPRHL1 2 83350 2.39952E-5 41675 0 NA
13-114098849-G-A p.Ile8Ile synonymous ADPRHL1 6 83350 7.19856E-5 41675 0 6.52108E-4
13-114098856-A-G p.Val6Ala missense ADPRHL1 2 83358 2.39929E-5 41679 0 NA
13-114098863-A-T p.Cys4Ser missense ADPRHL1 2 83352 2.39946E-5 41676 0 NA
13-114098877-C-T p.Arg81Gln missense ADPRHL1 1 83332 1.20002E-5 41666 0 3.18512E-5
13-114098878-G-A p.Arg81Trp missense ADPRHL1 3 83328 3.60023E-5 41664 0 9.55597E-5
13-114098880-T-TA p.Tyr80fs frameshift ADPRHL1 1 83324 1.20013E-5 41662 0 1.64978E-5
13-114098884-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 1 83312 1.20031E-5 41656 0 NA
13-114098886-T-A p.Asp78Val missense ADPRHL1 47 83312 5.64144E-4 41656 0 0.00133801
13-114098901-T-A p.Tyr73Phe missense ADPRHL1 1 83260 1.20106E-5 41630 0 1.65686E-5
13-114098907-G-A c.-32-3C>T splice_region ADPRHL1 1 83228 1.20152E-5 41614 0 8.29944E-6
13-114098908-C-T c.-32-4G>A splice_region ADPRHL1 13 83216 1.5622E-4 41608 0 0.001875
13-114098909-G-A c.-32-5C>T splice_region ADPRHL1 1 83222 1.20161E-5 41611 0 3.18613E-5
13-114103370-G-A c.-89C>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 2 27244 7.34107E-5 13622 0 3.50207E-4
13-114103423-C-T c.-142G>A 5_prime_UTR_premature_start_codon_gain ADPRHL1 27 27598 9.78332E-4 13799 0 0.00136934
13-114103424-G-A c.-143C>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 21 27526 7.62915E-4 13763 0 5.41539E-4
13-114103517-G-C c.-236C>G 5_prime_UTR_premature_start_codon_gain ADPRHL1 1 28328 3.53008E-5 14164 0 NA
13-114103546-G-A c.-265C>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 4 27928 1.43225E-4 13964 0 6.44745E-5
13-114103567-G-A c.-286C>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 1 27502 3.6361E-5 13751 0 NA
13-114103578-C-A c.-297G>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 1 27438 3.64458E-5 13719 0 NA
13-114107538-C-G c.214+1G>C splice_donor ADPRHL1 1 81442 1.22787E-5 40721 0 NA
13-114107543-G-A p.Thr70Thr synonymous ADPRHL1 1 81508 1.22687E-5 40754 0 NA
13-114107551-C-T p.Ala68Thr missense ADPRHL1 1 81696 1.22405E-5 40848 0 NA
13-114107554-C-T p.Glu67Lys missense ADPRHL1 3 81752 3.66964E-5 40876 0 1.04208E-4
13-114107557-C-T p.Ala66Thr missense ADPRHL1 1 81772 1.22291E-5 40886 0 1.20197E-5
13-114107558-G-C p.Thr65Thr synonymous ADPRHL1 1 81880 1.2213E-5 40940 0 8.00891E-6
13-114107558-G-A p.Thr65Thr synonymous ADPRHL1 1 81880 1.2213E-5 40940 0 5.03525E-4
13-114107564-G-A p.Ile63Ile synonymous ADPRHL1 1 82044 1.21886E-5 41022 0 4.00074E-6
13-114107568-T-G p.His62Pro missense ADPRHL1 2 82244 2.43179E-5 41122 0 2.79812E-5
13-114107571-A-G p.Met61Thr missense ADPRHL1 736 82336 0.00893898 41168 6 0.03875
13-114107575-T-C p.Ile60Val missense ADPRHL1 1 82498 1.21215E-5 41249 0 NA
13-114107575-T-TG p.Ile60fs frameshift ADPRHL1 1 82498 1.21215E-5 41249 0 NA
13-114107590-C-T p.Val55Met missense ADPRHL1 24 82684 2.90262E-4 41342 0 1.89631E-4
13-114107591-G-A p.Pro54Pro synonymous ADPRHL1 3 82704 3.62739E-5 41352 0 8.24443E-6
13-114107595-C-T p.Trp53* stop_gained ADPRHL1 16 82750 1.93353E-4 41375 0 0.00125
13-114107606-C-T p.Ser49Ser synonymous ADPRHL1 513 82898 0.00618833 41449 6 0.0131571
13-114107607-G-A p.Ser49Leu missense ADPRHL1 1 82966 1.20531E-5 41483 0 NA
13-114107609-G-A p.Leu48Leu synonymous ADPRHL1 6 82994 7.22944E-5 41497 0 0.00125
13-114107614-C-T p.Val47Ile missense ADPRHL1 3 83050 3.61228E-5 41525 0 9.88908E-5
13-114107621-G-A p.Asp44Asp synonymous ADPRHL1 1 83116 1.20314E-5 41558 0 NA
13-114107632-C-G p.Gly41Arg missense ADPRHL1 69 83138 8.29945E-4 41569 0 0.0014011
13-114107632-C-T p.Gly41Arg missense ADPRHL1 4 83140 4.81116E-5 41570 0 1.27372E-4
13-114107633-G-A p.Ser40Ser synonymous ADPRHL1 4 83142 4.81105E-5 41571 0 5.76777E-5
13-114107637-C-T p.Arg39His missense ADPRHL1 15 83150 1.80397E-4 41575 0 5.03525E-4
13-114107655-A-G p.Ile33Thr missense ADPRHL1 1 83192 1.20204E-5 41596 0 NA
13-114107661-A-G p.Met31Thr missense ADPRHL1 4 83200 4.80769E-5 41600 0 3.29571E-5
13-114107662-T-G p.Met31Leu missense ADPRHL1 1 83200 1.20192E-5 41600 0 3.18471E-5
13-114107669-A-G p.Thr28Thr synonymous ADPRHL1 14 83200 1.68269E-4 41600 0 1.23593E-4
13-114107695-T-C p.Arg20Gly missense ADPRHL1 4 83166 4.80966E-5 41583 0 8.2409E-6
13-114107699-G-C p.Gly18Gly synonymous ADPRHL1 2 83148 2.40535E-5 41574 0 1.193E-5
13-114107711-G-A p.Gly14Gly synonymous ADPRHL1 14 83088 1.68496E-4 41544 0 5.03525E-4
13-114107713-C-T p.Gly14Ser missense ADPRHL1 5 83098 6.01699E-5 41549 0 3.2975E-5
13-114107715-A-AC p.Val13fs frameshift ADPRHL1 1 83100 1.20337E-5 41550 0 3.18674E-5
13-114107716-C-T p.Val13Ile missense ADPRHL1 5 83088 6.01772E-5 41544 0 4.9465E-5
13-114107720-C-A p.Gly11Gly synonymous ADPRHL1 1 83092 1.20349E-5 41546 0 NA
13-114107722-C-G p.Gly11Arg missense ADPRHL1 1 83086 1.20357E-5 41543 0 6.25E-4
13-114107732-C-T p.Ala7Ala synonymous ADPRHL1 1 83024 1.20447E-5 41512 0 1.39202E-4
13-114107733-G-A p.Ala7Val missense ADPRHL1 30 83002 3.61437E-4 41501 0 0.00107403
13-114107742-A-C p.Phe4Cys missense ADPRHL1 2 82958 2.41086E-5 41479 0 NA
13-114107745-T-C p.Lys3Arg missense ADPRHL1 1 82926 1.20589E-5 41463 0 NA
13-114107786-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 1 81606 1.2254E-5 40803 0 3.34672E-5
13-114107791-G-A c.-39C>T 5_prime_UTR_premature_start_codon_gain ADPRHL1 2 81174 2.46384E-5 40587 0 2.9768E-5