Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-123300132-G-T c.-147G>T 5_prime_UTR_premature_start_codon_gain ADAD1 2 2942 6.7981E-4 1471 0 0.00277141
4-123300266-C-T c.-87C>T 5_prime_UTR_premature_start_codon_gain ADAD1 1 2942 3.39905E-4 1471 0 NA
4-123300728-T-C c.-21T>C 5_prime_UTR_premature_start_codon_gain ADAD1 1 1316 7.59878E-4 658 0 3.2E-5
4-123300758-G-T c.-109G>T 5_prime_UTR_premature_start_codon_gain ADAD1 4 274 0.0145985 137 0 0.00258571
4-123301211-C-T c.-8-6C>T splice_region ADAD1 1 83118 1.20311E-5 41559 0 4.44713E-5
4-123301217-G-A c.-8G>A 5_prime_UTR_premature_start_codon_gain ADAD1 1 83186 1.20213E-5 41593 0 2.63685E-5
4-123301242-T-C p.His6His synonymous ADAD1 5 83336 5.99981E-5 41668 0 3.18431E-5
4-123301244-G-T p.Trp7Leu missense ADAD1 1 83338 1.19993E-5 41669 0 NA
4-123301245-G-C p.Trp7Cys missense ADAD1 6 83342 7.19925E-5 41671 0 NA
4-123301249-C-T p.Gln9* stop_gained ADAD1 1 83346 1.19982E-5 41673 0 3.99981E-6
4-123301250-A-G c.-27-2A>G splice_acceptor ADAD1 18 83350 2.15957E-4 41675 0 2.34998E-4
4-123301251-G-C c.-27-1G>C splice_acceptor ADAD1 2 83352 2.39946E-5 41676 0 NA
4-123301256-C-G p.Ser11Trp missense ADAD1 1 83344 1.19985E-5 41672 0 1.67129E-5
4-123301256-C-T p.Ser11Leu missense ADAD1 1 83344 1.19985E-5 41672 0 2.50694E-5
4-123301257-G-A p.Ser11Ser synonymous ADAD1 1 83352 1.19973E-5 41676 0 2.39252E-5
4-123301263-C-T p.Val13Val synonymous ADAD1 1 83358 1.19964E-5 41679 0 NA
4-123301268-G-A p.Ser15Asn missense ADAD1 4 83360 4.79846E-5 41680 0 8.28775E-6
4-123301281-G-A p.Met1? start_lost ADAD1 1 83372 1.19944E-5 41686 0 NA
4-123301296-G-A p.Leu24Leu synonymous ADAD1 5 83378 5.99679E-5 41689 1 1.81488E-4
4-123301298-C-G p.Pro25Arg missense ADAD1 1 83380 1.19933E-5 41690 0 NA
4-123301311-G-T p.Ala29Ala synonymous ADAD1 1 83384 1.19927E-5 41692 0 NA
4-123301313-C-A p.Thr30Lys missense ADAD1 5 83382 5.9965E-5 41691 0 NA
4-123301316-A-G p.Lys31Arg missense ADAD1 1 83386 1.19924E-5 41693 0 NA
4-123301319-C-T p.Thr32Met missense ADAD1 3 83390 3.59755E-5 41695 0 1.64829E-5
4-123301320-G-A p.Thr32Thr synonymous ADAD1 1 83388 1.19921E-5 41694 0 8.24144E-6
4-123301331-C-G p.Pro36Arg missense ADAD1 1 83382 1.1993E-5 41691 0 6.76057E-5
4-123301333-A-G p.Thr37Ala missense ADAD1 2 83376 2.39877E-5 41688 0 NA
4-123301334-C-T p.Thr37Ile missense ADAD1 1 83374 1.19941E-5 41687 0 2.78421E-5
4-123301341-G-T p.Trp39Cys missense ADAD1 1 83372 1.19944E-5 41686 0 8.24321E-6
4-123301343-C-T p.Ser40Phe missense ADAD1 1 83368 1.1995E-5 41684 0 NA
4-123301343-C-A p.Ser40Tyr missense ADAD1 1 83368 1.1995E-5 41684 0 NA
4-123301385-C-A p.Thr54Lys missense ADAD1 1 83234 1.20143E-5 41617 0 NA
4-123301386-G-A p.Thr54Thr synonymous ADAD1 1 83204 1.20187E-5 41602 0 1.68152E-5
4-123301394-C-T p.Thr57Met missense+splice_region ADAD1 1 83130 1.20294E-5 41565 0 1.2502E-5
4-123301395-G-A p.Thr57Thr splice_region+synonymous ADAD1 3 83098 3.6102E-5 41549 0 8.47731E-6
4-123301395-G-T p.Thr57Thr splice_region+synonymous ADAD1 1 83098 1.2034E-5 41549 0 8.47731E-6
4-123301396-G-A p.Gly58Ser missense+splice_region ADAD1 3 83074 3.61124E-5 41537 0 6.36821E-5
4-123301400-C-T c.172+4C>T splice_region ADAD1 2 83026 2.40888E-5 41513 0 1.02255E-4
4-123301403-C-T c.172+7C>T splice_region ADAD1 1 82964 1.20534E-5 41482 0 NA
4-123301653-T-C n.178+2T>C splice_donor ADAD1 1 16404 6.09607E-5 8202 0 NA
4-123302145-A-C c.173-2A>C splice_acceptor ADAD1 1 83142 1.20276E-5 41571 0 NA
4-123302149-A-G p.Asn59Asp missense+splice_region ADAD1 1 83144 1.20273E-5 41572 0 NA
4-123302162-C-T p.Pro63Leu missense ADAD1 4 83210 4.80711E-5 41605 0 3.18735E-5
4-123302163-G-T p.Pro63Pro synonymous ADAD1 72 83220 8.65177E-4 41610 0 7.03247E-4
4-123302163-G-A p.Pro63Pro synonymous ADAD1 2 83226 2.4031E-5 41613 0 2.48793E-5
4-123302167-C-G p.Leu65Val missense ADAD1 1 83256 1.20111E-5 41628 0 9.55962E-5
4-123302167-C-T p.Leu65Phe missense ADAD1 1 83256 1.20111E-5 41628 0 NA
4-123302171-C-A p.Ser66Tyr missense ADAD1 1 83270 1.20091E-5 41635 0 NA
4-123302179-C-G p.Leu69Val missense ADAD1 60 83266 7.20582E-4 41633 0 0.00149825
4-123302184-A-G p.Ser70Ser synonymous ADAD1 1 83292 1.2006E-5 41646 0 NA
4-123302201-T-C p.Val76Ala missense ADAD1 1 83330 1.20005E-5 41665 0 NA
4-123302216-A-G p.Lys81Arg missense ADAD1 2 83350 2.39952E-5 41675 0 4.16701E-6
4-123302220-A-G p.Ile82Met missense ADAD1 3 83350 3.59928E-5 41675 0 NA
4-123302244-C-T p.Tyr90Tyr synonymous ADAD1 3431 83316 0.0411806 41658 404 0.0852142
4-123302248-C-T p.Arg92Cys missense ADAD1 3 83356 3.59902E-5 41678 0 3.18471E-5
4-123302249-G-A p.Arg92His missense ADAD1 18 83354 2.15946E-4 41677 0 5.03525E-4
4-123302255-A-G p.Glu94Gly missense ADAD1 156 83356 0.00187149 41678 0 0.00152876
4-123302268-G-A p.Val98Val synonymous ADAD1 1 83362 1.19959E-5 41681 0 NA
4-123302271-A-G p.Ser99Ser synonymous ADAD1 1 83362 1.19959E-5 41681 0 NA
4-123302271-A-T p.Ser99Ser synonymous ADAD1 1 83362 1.19959E-5 41681 0 NA
4-123302274-CTTGCACCAGT-C p.Gln103fs frameshift ADAD1 1 83358 1.19964E-5 41679 0 NA
4-123302298-G-A p.Gln108Gln synonymous ADAD1 1 83340 1.1999E-5 41670 0 8.28377E-6
4-123302310-T-C p.Leu112Leu synonymous ADAD1 2 83310 2.40067E-5 41655 0 5.03525E-4
4-123302326-G-A p.Val118Met missense ADAD1 1 83202 1.20189E-5 41601 0 NA
4-123302329-A-G p.Thr119Ala missense ADAD1 9 83206 1.08165E-4 41603 0 8.42588E-5
4-123302330-C-A p.Thr119Lys missense ADAD1 1 83200 1.20192E-5 41600 0 NA
4-123302333-C-T p.Thr120Ile missense+splice_region ADAD1 1 83198 1.20195E-5 41599 0 NA
4-123304950-C-T c.362-4C>T splice_region ADAD1 1 82940 1.20569E-5 41470 0 NA
4-123304958-T-A p.Asn122Lys missense ADAD1 1 83044 1.20418E-5 41522 0 NA
4-123304962-A-G p.Met124Val missense ADAD1 2 83154 2.40518E-5 41577 0 NA
4-123304963-T-G p.Met124Arg missense ADAD1 1 83166 1.20241E-5 41583 0 NA
4-123304967-A-G p.Gly125Gly synonymous ADAD1 1 83180 1.20221E-5 41590 0 1.2594E-5
4-123304986-G-A p.Ala132Thr missense ADAD1 1 83270 1.20091E-5 41635 0 NA
4-123304988-T-C p.Ala132Ala synonymous ADAD1 2 83272 2.40177E-5 41636 0 8.24117E-6
4-123304989-G-A p.Val133Met missense ADAD1 4 83278 4.80319E-5 41639 0 3.29641E-5
4-123304992-G-A p.Val134Met missense ADAD1 5 83274 6.00428E-5 41637 0 2.79557E-5
4-123304994-G-A p.Val134Val synonymous ADAD1 1 83280 1.20077E-5 41640 0 9.55901E-5
4-123305014-C-G p.Thr141Ser missense ADAD1 1 83296 1.20054E-5 41648 0 NA
4-123305021-G-A p.Leu143Leu synonymous ADAD1 2 83276 2.40165E-5 41638 0 8.24035E-6
4-123305050-A-G p.Asn153Ser missense ADAD1 1 83234 1.20143E-5 41617 0 8.24606E-6
4-123305057-A-T p.Ala155Ala synonymous ADAD1 1 83234 1.20143E-5 41617 0 3.29902E-5
4-123305075-G-C p.Glu161Asp missense ADAD1 2 83198 2.4039E-5 41599 0 8.25723E-6
4-123305085-C-G p.Leu165Val missense ADAD1 1 83180 1.20221E-5 41590 0 NA
4-123305119-C-T p.Ser176Leu missense+splice_region ADAD1 2 82972 2.41045E-5 41486 0 NA
4-123305120-A-G p.Ser176Ser splice_region+synonymous ADAD1 1 82954 1.20549E-5 41477 0 1.75352E-5
4-123305126-A-G c.529+5A>G splice_region ADAD1 1 82880 1.20656E-5 41440 0 9.18493E-6
4-123314742-A-G c.530-2A>G splice_acceptor ADAD1 1 81916 1.22076E-5 40958 0 NA
4-123314747-C-G p.Pro178Arg missense ADAD1 3 82040 3.65675E-5 41020 0 3.82308E-5
4-123314762-C-T p.Ala183Val missense ADAD1 2 82172 2.43392E-5 41086 0 1.65186E-5
4-123314766-A-G p.Glu184Glu synonymous ADAD1 1 82258 1.21569E-5 41129 0 NA
4-123314766-A-T p.Glu184Asp missense ADAD1 2 82258 2.43137E-5 41129 0 5.03525E-4
4-123314768-CTGT-C p.Val187del conservative_inframe_deletion ADAD1 1 82246 1.21586E-5 41123 0 NA
4-123314778-A-G p.Leu188Leu synonymous ADAD1 3 82280 3.64609E-5 41140 0 NA
4-123314784-A-ACTAGCC p.Ala192_Tyr193insLeuAla disruptive_inframe_insertion ADAD1 1 82346 1.21439E-5 41173 0 NA
4-123314790-A-G p.Ala192Ala synonymous ADAD1 36 82336 4.37233E-4 41168 0 0.00117857
4-123314791-T-C p.Tyr193His missense ADAD1 1 82316 1.21483E-5 41158 0 3.18552E-5
4-123314805-A-G p.Val197Val synonymous ADAD1 2 82172 2.43392E-5 41086 0 1.26717E-5
4-123314812-G-T p.Glu200* stop_gained ADAD1 1 81982 1.21978E-5 40991 0 9.68583E-5
4-123314819-A-C c.598+7A>C splice_region ADAD1 1 81824 1.22214E-5 40912 0 NA
4-123317409-G-A p.Gly201Arg missense+splice_region ADAD1 3 81636 3.67485E-5 40818 0 1.79997E-5
4-123317411-G-A p.Gly201Gly synonymous ADAD1 7 81684 8.56961E-5 40842 0 2.63008E-4
4-123317414-A-C p.Arg202Ser missense ADAD1 1 81852 1.22172E-5 40926 0 1.72604E-5
4-123317419-T-C p.Ile204Thr missense ADAD1 3 81912 3.66247E-5 40956 0 3.85495E-5
4-123317421-C-G p.Gln205Glu missense ADAD1 1 81882 1.22127E-5 40941 0 NA
4-123317423-A-G p.Gln205Gln synonymous ADAD1 9 82012 1.0974E-4 41006 0 0.00100908
4-123317426-T-A p.Tyr206* stop_gained ADAD1 1 82064 1.21856E-5 41032 0 NA
4-123317444-C-T p.Ile212Ile synonymous ADAD1 1 82246 1.21586E-5 41123 0 5.06385E-5
4-123317444-C-A p.Ile212Ile synonymous ADAD1 1 82246 1.21586E-5 41123 0 5.04541E-4
4-123317445-G-A p.Val213Ile missense ADAD1 6 82274 7.2927E-5 41137 0 4.6115E-5
4-123317453-A-G p.Glu215Glu synonymous ADAD1 1 82280 1.21536E-5 41140 0 NA
4-123317455-G-T p.Arg216Ile missense ADAD1 2 82304 2.43002E-5 41152 0 2.25218E-4
4-123317479-G-A p.Arg224His missense ADAD1 13 82520 1.57538E-4 41260 0 7.35763E-5
4-123317482-C-T p.Ser225Leu missense ADAD1 1 82496 1.21218E-5 41248 0 8.32653E-6
4-123317532-G-A p.Ala242Thr missense+splice_region ADAD1 1 81454 1.22769E-5 40727 0 NA
4-123329070-A-G p.Gln244Gln synonymous ADAD1 1 83044 1.20418E-5 41522 0 3.1841E-5
4-123329072-A-G p.His245Arg missense ADAD1 2 83044 2.40836E-5 41522 0 3.18431E-5
4-123329098-G-C p.Glu254Gln missense ADAD1 2 82980 2.41022E-5 41490 0 3.18464E-5
4-123329102-A-C p.Tyr255Ser missense ADAD1 1 82982 1.20508E-5 41491 0 NA
4-123329123-A-C p.Lys262Thr missense ADAD1 1 82914 1.20607E-5 41457 0 NA
4-123329129-A-G p.Asp264Gly missense ADAD1 1 82862 1.20683E-5 41431 0 NA
4-123329130-T-C p.Asp264Asp synonymous ADAD1 1 82870 1.20671E-5 41435 0 3.18431E-5
4-123329141-T-C p.Leu268Ser missense ADAD1 3 82794 3.62345E-5 41397 0 9.55414E-5
4-123329154-T-C p.His272His synonymous ADAD1 1 82694 1.20928E-5 41347 0 1.19541E-5
4-123329164-A-G p.Thr276Ala missense ADAD1 2 82564 2.42236E-5 41282 0 NA
4-123329175-G-A p.Arg279Arg synonymous ADAD1 2 82364 2.42825E-5 41182 0 NA
4-123329177-CTCT-C p.Leu282del conservative_inframe_deletion ADAD1 1 82328 1.21465E-5 41164 0 NA
4-123329185-A-C p.Ser283Arg missense+splice_region ADAD1 10 82076 1.21838E-4 41038 0 1.00385E-4
4-123329189-A-G c.848+3A>G splice_region ADAD1 1 81950 1.22026E-5 40975 0 NA
4-123332371-T-C c.849-6T>C splice_region ADAD1 1 82136 1.21749E-5 41068 0 NA
4-123332377-G-A p.Arg283Arg splice_region+synonymous ADAD1 5 82436 6.06531E-5 41218 0 4.46154E-5
4-123332387-A-G p.Arg287Gly missense ADAD1 1 82734 1.20869E-5 41367 0 NA
4-123332423-A-G p.Met299Val missense ADAD1 2 82918 2.41202E-5 41459 0 8.06413E-6
4-123332447-A-G p.Thr307Ala missense ADAD1 1 83002 1.20479E-5 41501 0 8.28089E-6
4-123332455-A-G p.Pro309Pro synonymous ADAD1 1 83018 1.20456E-5 41509 0 1.65473E-5
4-123332487-T-A p.Ile320Asn missense ADAD1 1 83048 1.20412E-5 41524 0 NA
4-123332490-A-G p.Asn321Ser missense ADAD1 2 83058 2.40796E-5 41529 0 3.303E-5
4-123332492-A-G p.Ile322Val missense ADAD1 1 83058 1.20398E-5 41529 0 NA
4-123332501-T-C p.Tyr325His missense ADAD1 2 83054 2.40807E-5 41527 0 NA
4-123332504-A-G p.Met326Val missense ADAD1 3 83056 3.61202E-5 41528 0 2.79794E-5
4-123332509-C-T p.Asn327Asn synonymous ADAD1 4 83060 4.8158E-5 41530 0 1.59236E-4
4-123332525-T-A p.Ser333Thr missense ADAD1 1 83066 1.20386E-5 41533 0 4.12923E-5
4-123332527-A-C p.Ser333Ser synonymous ADAD1 2 83074 2.40749E-5 41537 0 4.12943E-5
4-123332536-T-G p.Ile336Met missense ADAD1 1 83036 1.2043E-5 41518 0 NA
4-123333737-G-A p.Arg341His missense+splice_region ADAD1 1 81402 1.22847E-5 40701 0 3.18715E-5
4-123333754-A-G p.Ile347Val missense ADAD1 4 81912 4.88329E-5 40956 0 1.65183E-5
4-123333760-G-T p.Ala349Ser missense ADAD1 1 81988 1.21969E-5 40994 0 3.18674E-5
4-123333762-A-G p.Ala349Ala synonymous ADAD1 1 82088 1.2182E-5 41044 0 NA
4-123333771-C-T p.Ala352Ala synonymous ADAD1 1 82350 1.21433E-5 41175 0 NA
4-123333781-C-A p.Leu356Ile missense ADAD1 1 82526 1.21174E-5 41263 0 NA
4-123333792-C-T p.His359His synonymous ADAD1 1 82678 1.20951E-5 41339 0 3.18552E-5
4-123333793-G-C p.Val360Leu missense ADAD1 2 82688 2.41873E-5 41344 0 3.98337E-6
4-123333821-C-G p.Thr369Ser missense ADAD1 1 82934 1.20578E-5 41467 0 8.239E-6
4-123333822-T-C p.Thr369Thr synonymous ADAD1 12 82942 1.44679E-4 41471 0 1.59297E-4
4-123333848-A-G p.Asn378Ser missense ADAD1 2 82974 2.41039E-5 41487 0 5.76692E-5
4-123333919-C-A p.Leu402Met missense ADAD1 1 82638 1.2101E-5 41319 0 NA
4-123333931-A-G p.Ile406Val missense ADAD1 1 82508 1.212E-5 41254 0 NA
4-123333952-A-C p.Ser413Arg missense ADAD1 1 82128 1.21761E-5 41064 0 NA
4-123333957-A-G p.Ile414Met missense ADAD1 1 81994 1.2196E-5 40997 0 NA
4-123333958-C-G p.Leu415Val missense ADAD1 1 81994 1.2196E-5 40997 0 5.03525E-4
4-123333962-T-C p.Ile416Thr missense+splice_region ADAD1 1 81920 1.2207E-5 40960 0 2.48316E-5
4-123336535-T-C p.Gly417Gly splice_region+synonymous ADAD1 1 82794 1.20782E-5 41397 0 NA
4-123336536-G-A p.Asp418Asn missense+splice_region ADAD1 45 82818 5.4336E-4 41409 0 0.0020141
4-123336541-G-T p.Gly419Gly synonymous ADAD1 1 82838 1.20718E-5 41419 0 8.30772E-6
4-123336552-A-G p.Asp423Gly missense ADAD1 4 82870 4.82684E-5 41435 0 8.27034E-6
4-123336560-G-A p.Gly426Ser missense ADAD1 1 82898 1.2063E-5 41449 0 3.98794E-6
4-123336564-T-C p.Leu427Ser missense ADAD1 1 82924 1.20592E-5 41462 0 NA
4-123336571-C-T p.Ile429Ile synonymous ADAD1 180 82932 0.00217045 41466 0 0.00388758
4-123336571-C-A p.Ile429Ile synonymous ADAD1 3 82938 3.61716E-5 41469 0 NA
4-123336572-G-A p.Ala430Thr missense ADAD1 2 82948 2.41115E-5 41474 0 2.79116E-5
4-123336573-C-T p.Ala430Val missense ADAD1 1 82980 1.20511E-5 41490 0 NA
4-123336602-A-G p.Thr440Ala missense ADAD1 1 83090 1.20351E-5 41545 0 NA
4-123336614-C-G p.Pro444Ala missense ADAD1 1 83104 1.20331E-5 41552 0 8.23778E-6
4-123336616-A-C p.Pro444Pro synonymous ADAD1 1 83114 1.20317E-5 41557 0 1.64756E-5
4-123336617-A-G p.Met445Val missense ADAD1 8 83116 9.6251E-5 41558 0 7.16418E-5
4-123336617-A-T p.Met445Leu missense ADAD1 1 83114 1.20317E-5 41557 0 NA
4-123336647-A-G p.Ser455Gly missense ADAD1 2 83170 2.40471E-5 41585 0 8.23696E-6
4-123336661-T-C p.Ser459Ser synonymous ADAD1 1 83170 1.20236E-5 41585 0 NA
4-123336675-A-G p.Gln464Arg missense ADAD1 2 83180 2.40442E-5 41590 0 3.18492E-5
4-123336677-A-C p.Met465Leu missense ADAD1 4 83172 4.80931E-5 41586 0 8.23737E-6
4-123336679-G-A p.Met465Ile missense ADAD1 1 83174 1.2023E-5 41587 0 NA
4-123336685-G-A p.Leu467Leu synonymous ADAD1 1 83186 1.20213E-5 41593 0 NA
4-123336691-T-C p.Tyr469Tyr synonymous ADAD1 1 83194 1.20201E-5 41597 0 NA
4-123336694-A-C p.Lys470Asn missense ADAD1 1 83184 1.20215E-5 41592 0 3.97985E-6
4-123336701-A-G p.Ser473Gly missense ADAD1 1 83214 1.20172E-5 41607 0 5.76635E-5
4-123336718-A-G p.Gln478Gln synonymous ADAD1 1 83200 1.20192E-5 41600 0 3.18634E-5
4-123336724-T-C p.Asp480Asp synonymous ADAD1 3 83198 3.60586E-5 41599 0 6.25E-4
4-123336725-G-T p.Val481Phe missense ADAD1 8 83200 9.61538E-5 41600 0 6.25E-4
4-123342408-C-T c.1488-8C>T splice_region ADAD1 28 81266 3.44548E-4 40633 0 2.20158E-4
4-123342410-G-T c.1488-6G>T splice_region ADAD1 1 81940 1.22041E-5 40970 0 3.18715E-5
4-123342432-G-A p.Gly502Ser missense ADAD1 1 82550 1.21139E-5 41275 0 8.26132E-6
4-123342445-C-T p.Ala506Val missense ADAD1 3 82760 3.62494E-5 41380 0 NA
4-123342445-C-A p.Ala506Glu missense ADAD1 1 82760 1.20831E-5 41380 0 NA
4-123342446-A-G p.Ala506Ala synonymous ADAD1 1 82750 1.20846E-5 41375 0 NA
4-123342468-A-G p.Met514Val missense ADAD1 1 82910 1.20613E-5 41455 0 NA
4-123342476-T-C p.Ser516Ser synonymous ADAD1 21 82952 2.53158E-4 41476 0 5.4147E-4
4-123342477-C-T p.Arg517Trp missense ADAD1 49 82952 5.90703E-4 41476 0 4.33917E-4
4-123342478-G-A p.Arg517Gln missense ADAD1 8 82962 9.64297E-5 41481 0 8.36054E-5
4-123342478-G-T p.Arg517Leu missense ADAD1 1 82962 1.20537E-5 41481 0 3.98121E-6
4-123342481-T-A p.Phe518Tyr missense ADAD1 2 82966 2.41063E-5 41483 0 4.1323E-5
4-123342501-G-A p.Ala525Thr missense ADAD1 1 82780 1.20802E-5 41390 0 NA
4-123342507-A-C p.Lys527Gln missense ADAD1 1 82706 1.2091E-5 41353 0 NA
4-123342513-T-G p.Leu529Val missense ADAD1 1 82754 1.2084E-5 41377 0 NA
4-123342533-T-C p.Tyr535Tyr synonymous ADAD1 5 82614 6.05224E-5 41307 0 2.5367E-5
4-123342539-A-T p.Ala537Ala synonymous ADAD1 5 82366 6.07047E-5 41183 0 5.99839E-5
4-123350774-TCTC-T c.1618-6_1618-4delCTC splice_region ADAD1 1 81854 1.22169E-5 40927 0 4.0009E-6
4-123350776-T-C c.1618-5T>C splice_region ADAD1 1 81942 1.22038E-5 40971 0 NA
4-123350802-G-A p.Glu547Lys missense ADAD1 1 82438 1.21303E-5 41219 0 8.24647E-6
4-123350804-A-G p.Glu547Glu synonymous ADAD1 2 82458 2.42548E-5 41229 0 3.18492E-5
4-123350806-C-G p.Ala548Gly missense ADAD1 2 82480 2.42483E-5 41240 0 0.0020141
4-123350819-G-T p.Leu552Phe missense ADAD1 1 82556 1.2113E-5 41278 0 NA
4-123350821-A-T p.Lys553Ile missense ADAD1 5 82580 6.05473E-5 41290 0 2.788E-5
4-123350827-A-G p.Tyr555Cys missense ADAD1 4 82574 4.84414E-5 41287 0 9.55414E-5
4-123350827-A-C p.Tyr555Ser missense ADAD1 1 82574 1.21103E-5 41287 0 NA
4-123350837-A-G p.Gln558Gln synonymous ADAD1 1 82550 1.21139E-5 41275 0 8.24131E-6
4-123350842-G-A p.Gly560Asp missense ADAD1 1 82526 1.21174E-5 41263 0 3.98276E-6
4-123350843-C-T p.Gly560Gly synonymous ADAD1 18 82534 2.18092E-4 41267 0 1.07142E-4
4-123350875-T-C p.Ile571Thr missense ADAD1 1 82212 1.21637E-5 41106 0 2.79799E-5
4-123350879-G-A p.Glu572Glu synonymous ADAD1 1 82092 1.21815E-5 41046 0 NA
4-123350882-A-G p.Gln573Gln synonymous ADAD1 1 81952 1.22023E-5 40976 0 NA
4-123350889-A-G p.Met576Val missense ADAD1 3 81742 3.67008E-5 40871 0 1.65027E-5
4-123350890-T-A p.Met576Lys missense ADAD1 4 81702 4.89584E-5 40851 0 4.42631E-5
4-123350937-G-A c.*43G>A splice_region ADAD1 1 77738 1.28637E-5 38869 0 1.66102E-5