Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-74477370-G-A c.*127C>T splice_region ABHD17B 3 71676 4.1855E-5 35838 0 NA
9-74477497-T-C p.Ter294Trpext*? stop_lost ABHD17B 8 80686 9.91498E-5 40343 0 4.03962E-6
9-74477508-C-CT p.Glu291fs frameshift ABHD17B 5 79976 6.25188E-5 39988 1 3.63525E-5
9-74477509-TTTA-T p.His289_Lys290delinsGln disruptive_inframe_deletion ABHD17B 3 79872 3.75601E-5 39936 0 5.56462E-5
9-74477510-TTA-T p.His289fs frameshift ABHD17B 3 79822 3.75836E-5 39911 0 9.55231E-5
9-74477514-G-A p.His289Tyr missense ABHD17B 2 79406 2.5187E-5 39703 0 NA
9-74477523-C-T p.Val286Met missense+splice_region ABHD17B 22 78614 2.79848E-4 39307 0 5.03525E-4
9-74481742-C-T p.Arg276Arg synonymous ABHD17B 4 83190 4.80827E-5 41595 0 3.30753E-5
9-74481757-T-C p.Gly271Gly synonymous ABHD17B 31 83266 3.72301E-4 41633 0 1.39215E-4
9-74481808-C-T p.Val254Val synonymous ABHD17B 2 83298 2.40102E-5 41649 0 9.55292E-5
9-74481811-A-C p.Pro253Pro synonymous ABHD17B 2 83308 2.40073E-5 41654 0 8.2394E-6
9-74481818-T-C p.Gln251Arg missense ABHD17B 3 83292 3.60179E-5 41646 0 3.1837E-5
9-74481835-T-C p.Ala245Ala synonymous ABHD17B 1 83294 1.20057E-5 41647 0 1.64802E-5
9-74481838-G-A p.Leu244Leu synonymous ABHD17B 1 83280 1.20077E-5 41640 0 3.29625E-5
9-74481840-G-C p.Leu244Val missense ABHD17B 1 83286 1.20068E-5 41643 0 3.18593E-5
9-74481850-A-G p.Phe240Phe synonymous ABHD17B 1 83252 1.20117E-5 41626 0 NA
9-74481857-A-G p.Ile238Thr missense ABHD17B 1 83258 1.20109E-5 41629 0 3.98153E-6
9-74481876-C-T p.Gly232Arg missense ABHD17B 1 83210 1.20178E-5 41605 0 3.18451E-5
9-74481886-T-C p.Leu228Leu synonymous ABHD17B 1 83182 1.20218E-5 41591 0 3.99415E-6
9-74481897-A-T p.Ser225Thr missense ABHD17B 1 83084 1.2036E-5 41542 0 NA
9-74481898-G-T p.Thr224Thr synonymous ABHD17B 2 83086 2.40714E-5 41543 0 3.18492E-5
9-74481907-A-G p.Ser221Ser synonymous ABHD17B 1 83030 1.20438E-5 41515 0 NA
9-74481922-G-GTTTGGGAATGCATCAAAACAGTAGGTCTTCTTGGTATCAGGAAAGGCAA c.648-1_648insTTGCCTTTCCTGATACCAAGAAGACCTACTGTTTTGATGCATTCCCAAA splice_acceptor ABHD17B 5 82896 6.03165E-5 41448 1 NA
9-74481922-G-GTTTGGGAATGCATCAAAACAGTAGGT c.648-1_648insACCTACTGTTTTGATGCATTCCCAAA splice_acceptor ABHD17B 2 82894 2.41272E-5 41447 1 NA
9-74481925-G-A c.648-3C>T splice_region ABHD17B 7 82850 8.449E-5 41425 0 3.19183E-5
9-74481928-G-C c.648-6C>G splice_region ABHD17B 1 82816 1.2075E-5 41408 0 1.70346E-5
9-74485007-T-C p.Ala213Ala synonymous ABHD17B 37 83052 4.45504E-4 41526 0 0.00105952
9-74485024-T-A p.Thr208Ser missense ABHD17B 1 83078 1.20369E-5 41539 0 4.00609E-6
9-74485035-T-G p.Asp204Ala missense ABHD17B 1 83086 1.20357E-5 41543 0 NA
9-74485043-G-C p.Ala201Ala synonymous ABHD17B 1 83112 1.2032E-5 41556 0 3.98641E-6
9-74485058-C-T p.Ser196Ser synonymous ABHD17B 10 83110 1.20322E-4 41555 0 9.55353E-5
9-74485094-C-T p.Glu184Glu synonymous ABHD17B 1 83148 1.20267E-5 41574 0 NA
9-74485097-A-G p.Tyr183Tyr synonymous ABHD17B 1 83150 1.20265E-5 41575 0 3.1837E-5
9-74485100-T-C p.Arg182Arg synonymous ABHD17B 2 83130 2.40587E-5 41565 0 8.23995E-6
9-74485101-C-G p.Arg182Pro missense ABHD17B 2 83114 2.40633E-5 41557 0 NA
9-74485121-C-T p.Pro175Pro synonymous ABHD17B 18 83136 2.16513E-4 41568 0 4.45917E-4
9-74485122-G-A p.Pro175Leu missense ABHD17B 1 83138 1.20282E-5 41569 0 NA
9-74485127-T-C p.Thr173Thr synonymous ABHD17B 1 83120 1.20308E-5 41560 0 3.1841E-5
9-74485147-A-G p.Tyr167His missense ABHD17B 1 82880 1.20656E-5 41440 0 8.27458E-6
9-74485154-C-G p.Val164Val synonymous ABHD17B 1 82776 1.20808E-5 41388 0 NA
9-74485158-T-TAGAAATTATGAAAAATTAA p.Asn163fs frameshift ABHD17B 1 82690 1.20934E-5 41345 0 NA
9-74485163-A-C p.Pro161Pro synonymous ABHD17B 15 82550 1.81708E-4 41275 0 5.41298E-4
9-74485166-G-C p.Arg160Arg synonymous ABHD17B 1 82396 1.21365E-5 41198 0 3.33806E-5
9-74485168-G-A p.Arg160Cys missense ABHD17B 2 82356 2.42848E-5 41178 0 2.50694E-5
9-74485172-G-C p.Gly158Gly synonymous ABHD17B 1 82360 1.21418E-5 41180 0 NA
9-74485175-A-G p.Tyr157Tyr synonymous ABHD17B 1 82208 1.21643E-5 41104 0 5.04541E-4
9-74485186-G-T c.468-8C>A splice_region ABHD17B 2 81956 2.44033E-5 40978 0 4.64136E-6
9-74489527-T-C c.467+3A>G splice_region ABHD17B 1 82488 1.2123E-5 41244 0 4.93364E-6
9-74489561-T-C p.Ile146Val missense ABHD17B 1 82918 1.20601E-5 41459 0 8.67754E-6
9-74489562-G-A p.Asp145Asp synonymous ABHD17B 1 82920 1.20598E-5 41460 0 4.09991E-6
9-74489571-G-A p.Leu142Leu synonymous ABHD17B 2 82932 2.41161E-5 41466 0 9.55475E-5
9-74489583-T-C p.Thr138Thr synonymous ABHD17B 3 82948 3.61672E-5 41474 0 8.45895E-6
9-74489589-T-C p.Lys136Lys synonymous ABHD17B 29 82944 3.49633E-4 41472 0 1.31883E-4
9-74489595-G-A p.Ser134Ser synonymous ABHD17B 98 82930 0.00118172 41465 0 0.00277158
9-74489601-G-T p.Ala132Ala synonymous ABHD17B 10 82928 1.20587E-4 41464 0 6.77674E-5
9-74489625-T-C p.Ser124Ser synonymous ABHD17B 2 82820 2.41488E-5 41410 0 3.9833E-6
9-74489651-A-G p.Ser116Pro missense ABHD17B 6 82850 7.242E-5 41425 0 1.27332E-4
9-74489651-A-C p.Ser116Ala missense ABHD17B 1 82852 1.20697E-5 41426 0 6.36659E-5
9-74489652-T-C p.Gly115Gly synonymous ABHD17B 3 82848 3.62109E-5 41424 0 NA
9-74489663-T-C p.Ile112Val missense ABHD17B 1 82900 1.20627E-5 41450 0 NA
9-74489685-A-C p.Leu104Leu synonymous ABHD17B 3 82976 3.6155E-5 41488 0 9.55171E-5
9-74489715-T-C p.Leu94Leu synonymous ABHD17B 6 83036 7.22578E-5 41518 0 1.98988E-5
9-74489721-G-A p.Tyr92Tyr synonymous ABHD17B 1 83040 1.20424E-5 41520 0 3.97975E-6
9-74489728-G-T p.Ala90Glu missense ABHD17B 2 83036 2.40859E-5 41518 0 6.37024E-5
9-74489757-A-T p.Ala80Ala synonymous ABHD17B 1 82958 1.20543E-5 41479 0 1.64756E-5
9-74489777-T-C p.Ser74Gly missense ABHD17B 1 82916 1.20604E-5 41458 0 NA
9-74489778-G-A p.Thr73Thr synonymous ABHD17B 1 82908 1.20616E-5 41454 0 NA
9-74489794-C-G p.Cys68Ser missense ABHD17B 1 82874 1.20665E-5 41437 0 NA
9-74489811-T-C p.Glu62Glu synonymous ABHD17B 9 82792 1.08706E-4 41396 0 1.23587E-4
9-74489816-TAGA-T p.Ser60del conservative_inframe_deletion ABHD17B 1 82770 1.20817E-5 41385 0 NA
9-74489817-A-G p.Ser60Ser synonymous ABHD17B 1 82768 1.2082E-5 41384 0 5.57458E-5
9-74489826-C-G p.Gln57His missense ABHD17B 1 82750 1.20846E-5 41375 0 NA
9-74489830-CA-C p.Trp56fs frameshift ABHD17B 1 82726 1.20881E-5 41363 0 NA
9-74489832-GT-G p.Asp55fs frameshift ABHD17B 1 82714 1.20899E-5 41357 0 NA
9-74489839-C-T p.Arg53Gln missense ABHD17B 1 82690 1.20934E-5 41345 0 2.47215E-5
9-74489840-G-A p.Arg53* stop_gained ABHD17B 1 82690 1.20934E-5 41345 0 3.18492E-5
9-74489843-C-T p.Glu52Lys missense ABHD17B 1 82672 1.2096E-5 41336 0 NA
9-74489849-G-A p.Leu50Leu synonymous ABHD17B 7 82630 8.4715E-5 41315 0 3.18667E-5
9-74489862-A-G p.Arg45Arg synonymous ABHD17B 2 82514 2.42383E-5 41257 0 2.47382E-5
9-74489863-C-T p.Arg45His missense ABHD17B 26 82510 3.15113E-4 41255 0 9.72243E-4
9-74489871-G-A p.Ser42Ser synonymous ABHD17B 3 82396 3.64095E-5 41198 0 0.0025
9-74489873-T-C p.Ser42Gly missense ABHD17B 1 82392 1.21371E-5 41196 0 NA
9-74489883-C-T p.Met38Ile missense ABHD17B 1 82276 1.21542E-5 41138 0 NA
9-74489889-T-C p.Thr36Thr synonymous ABHD17B 1 82184 1.21678E-5 41092 0 NA
9-74489893-T-C p.Tyr35Cys missense ABHD17B 2 82126 2.43528E-5 41063 0 NA
9-74489900-G-A p.Pro33Ser missense ABHD17B 1 81982 1.21978E-5 40991 0 NA
9-74489916-C-T p.Ala27Ala synonymous ABHD17B 11 81462 1.35032E-4 40731 0 5.03525E-4
9-74489937-C-T p.Gly20Gly synonymous ABHD17B 1 80544 1.24156E-5 40272 0 NA
9-74489949-T-C p.Pro16Pro synonymous ABHD17B 1 80026 1.24959E-5 40013 0 NA
9-74489963-G-A p.Leu12Phe missense ABHD17B 1 79230 1.26215E-5 39615 0 NA
9-74489970-T-C p.Leu9Leu synonymous ABHD17B 1 78662 1.27126E-5 39331 0 3.18492E-5
9-74489987-G-A p.Leu4Phe missense ABHD17B 3 76376 3.92794E-5 38188 0 4.2155E-5
9-74489996-T-C p.Met1? start_lost ABHD17B 1 74752 1.33776E-5 37376 0 8.51542E-6