Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-195000058-C-T p.Ter779Ter stop_retained ACAP2 1 82134 1.21752E-5 41067 0 NA
3-195000065-T-C p.Lys777Glu missense ACAP2 1 82286 1.21527E-5 41143 0 1.24988E-5
3-195000082-A-T p.Phe771Tyr missense ACAP2 1 82460 1.21271E-5 41230 0 NA
3-195000085-C-T p.Arg770His missense ACAP2 1 82436 1.21306E-5 41218 0 3.19468E-5
3-195000099-T-C p.Pro765Pro synonymous ACAP2 2 82592 2.42154E-5 41296 0 8.26433E-6
3-195000106-T-C p.Asn763Ser missense ACAP2 4 82614 4.84179E-5 41307 0 4.49876E-5
3-195000106-T-G p.Asn763Thr missense ACAP2 1 82614 1.21045E-5 41307 0 NA
3-195000120-G-A p.Ser758Ser synonymous ACAP2 1 82572 1.21106E-5 41286 0 NA
3-195000130-C-T p.Arg755His missense ACAP2 6 82482 7.27431E-5 41241 0 1.91571E-4
3-195000131-G-A p.Arg755Cys missense ACAP2 2 82498 2.4243E-5 41249 0 8.26282E-6
3-195000144-A-G p.Tyr750Tyr synonymous ACAP2 1 82418 1.21333E-5 41209 0 2.90601E-5
3-195006056-AT-A n.681delA splice_region ACAP2 4 210 0.0190476 105 0 0.0212097
3-195006524-C-A c.2236+1G>T splice_donor ACAP2 1 82734 1.20869E-5 41367 0 NA
3-195006528-G-A p.Pro745Ser missense ACAP2 1 82766 1.20823E-5 41383 0 NA
3-195006555-G-T p.Arg736Arg synonymous ACAP2 1 82768 1.2082E-5 41384 0 NA
3-195006572-C-A p.Arg730Ile missense ACAP2 1 82714 1.20899E-5 41357 0 4.00166E-6
3-195006581-C-T p.Arg727His missense ACAP2 1 82500 1.21212E-5 41250 0 NA
3-195006586-C-CAAGGTGA c.2175-1_2175insTCACCTT splice_acceptor ACAP2 1 82370 1.21403E-5 41185 0 NA
3-195006591-A-G c.2175-5T>C splice_region ACAP2 1 82186 1.21675E-5 41093 0 NA
3-195006593-A-G c.2175-7T>C splice_region ACAP2 3 82144 3.65212E-5 41072 0 1.16022E-4
3-195009847-T-A c.2174+3A>T splice_region ACAP2 1 83130 1.20294E-5 41565 0 NA
3-195009868-T-C p.Asn719Ser missense ACAP2 1 83246 1.20126E-5 41623 0 3.29544E-5
3-195009882-A-G p.Ala714Ala synonymous ACAP2 1 83284 1.20071E-5 41642 0 NA
3-195009905-C-T p.Gly707Arg missense ACAP2 1 83310 1.20034E-5 41655 0 8.23696E-6
3-195009908-C-T p.Glu706Lys missense ACAP2 1 83310 1.20034E-5 41655 0 3.18776E-5
3-195009916-G-A p.Thr703Ile missense ACAP2 1 83304 1.20042E-5 41652 0 NA
3-195009928-T-C p.Asn699Ser missense ACAP2 1 83302 1.20045E-5 41651 0 3.18817E-5
3-195009934-C-T p.Gly697Asp missense ACAP2 2 83288 2.40131E-5 41644 0 NA
3-195009942-T-G p.Leu694Leu synonymous ACAP2 1 83272 1.20088E-5 41636 0 NA
3-195009947-A-G p.Phe693Leu missense ACAP2 2 83262 2.40206E-5 41631 0 8.23791E-6
3-195009963-G-T c.2064-3C>A splice_region ACAP2 1 83126 1.20299E-5 41563 0 NA
3-195012429-A-C c.2063+6T>G splice_region ACAP2 3 83178 3.60672E-5 41589 0 9.5511E-5
3-195012440-G-A p.His686His synonymous ACAP2 9 83284 1.08064E-4 41642 0 7.42011E-5
3-195012443-C-T p.Gly685Gly synonymous ACAP2 1 83288 1.20065E-5 41644 0 4.12092E-5
3-195012449-G-C p.Val683Val synonymous ACAP2 1 83306 1.20039E-5 41653 0 NA
3-195012451-C-T p.Val683Ile missense ACAP2 9 83312 1.08028E-4 41656 0 1.91058E-4
3-195012452-G-A p.Thr682Thr synonymous ACAP2 2 83328 2.40015E-5 41664 0 0.00125
3-195012459-T-C p.His680Arg missense ACAP2 2 83356 2.39935E-5 41678 0 NA
3-195012461-G-C p.His679Gln missense ACAP2 1 83364 1.19956E-5 41682 0 1.64796E-5
3-195012471-C-G p.Gly676Ala missense ACAP2 1 83380 1.19933E-5 41690 0 NA
3-195012474-C-A p.Arg675Leu missense ACAP2 1 83374 1.19941E-5 41687 0 NA
3-195012481-G-C p.Gln673Glu missense ACAP2 2 83382 2.3986E-5 41691 0 7.41485E-5
3-195012491-T-G p.Gln669His missense ACAP2 2 83384 2.39854E-5 41692 0 7.95558E-6
3-195012500-A-C p.Asn666Lys missense ACAP2 2 83380 2.39866E-5 41690 0 NA
3-195012501-T-C p.Asn666Ser missense ACAP2 1 83378 1.19936E-5 41689 0 NA
3-195012509-A-G p.Asn663Asn synonymous ACAP2 4 83362 4.79835E-5 41681 0 5.03525E-4
3-195012518-G-C p.Leu660Leu synonymous ACAP2 2 83358 2.39929E-5 41679 0 3.98848E-6
3-195012525-T-C p.Glu658Gly missense ACAP2 2 83350 2.39952E-5 41675 0 1.59553E-5
3-195012530-C-T p.Thr656Thr synonymous ACAP2 4 83344 4.79939E-5 41672 0 0.00100705
3-195012550-AGG-A c.1954-8_1954-7delCC splice_region ACAP2 1 83230 1.20149E-5 41615 0 5.38579E-5
3-195012987-C-T c.1953+7G>A splice_region ACAP2 36 83122 4.33098E-4 41561 0 5.1258E-4
3-195013000-T-C p.Val649Val synonymous ACAP2 3 83278 3.60239E-5 41639 0 1.27372E-4
3-195013009-A-G p.Ile646Ile synonymous ACAP2 1 83296 1.20054E-5 41648 0 NA
3-195013021-C-T p.Ala642Ala synonymous ACAP2 1 83298 1.20051E-5 41649 0 3.33489E-5
3-195013022-G-A p.Ala642Val missense ACAP2 11 83302 1.3205E-4 41651 0 6.82435E-4
3-195013054-G-A p.Asp631Asp synonymous ACAP2 1 83298 1.20051E-5 41649 0 1.19479E-5
3-195013058-G-A p.Ala630Val missense ACAP2 1 83298 1.20051E-5 41649 0 NA
3-195013093-G-T p.Asn618Lys missense ACAP2 1 83288 1.20065E-5 41644 0 5.03525E-4
3-195013094-T-C p.Asn618Ser missense ACAP2 469 83288 0.00563106 41644 4 0.00675417
3-195013102-A-G p.Tyr615Tyr synonymous ACAP2 3 83276 3.60248E-5 41638 0 8.23968E-6
3-195013108-C-T p.Ala613Ala synonymous ACAP2 2 83266 2.40194E-5 41633 0 3.29603E-5
3-195013109-G-A p.Ala613Val missense ACAP2 17 83260 2.0418E-4 41630 0 1.27379E-4
3-195013109-G-T p.Ala613Glu missense ACAP2 1 83260 1.20106E-5 41630 0 3.98061E-6
3-195013115-T-C p.Tyr611Cys missense ACAP2 1 83274 1.20085E-5 41637 0 3.1839E-5
3-195013134-T-C p.Asn605Asp missense ACAP2 2 83274 2.40171E-5 41637 0 3.18492E-5
3-195013137-G-C p.Leu604Val missense ACAP2 1 83278 1.2008E-5 41639 0 NA
3-195013140-G-A p.His603Tyr missense ACAP2 1 83274 1.20085E-5 41637 0 8.26173E-6
3-195013145-G-A p.Ser601Leu missense ACAP2 8 83254 9.60915E-5 41627 1 0.0020141
3-195013158-TAGA-T p.Ser596del conservative_inframe_deletion ACAP2 33 83250 3.96396E-4 41625 0 7.00949E-4
3-195013176-C-T p.Glu591Lys missense ACAP2 11 83216 1.32186E-4 41608 0 5.10009E-4
3-195013178-CCTT-C p.Glu589del disruptive_inframe_deletion ACAP2 10 83218 1.20166E-4 41609 0 5.55081E-5
3-195015447-C-G c.1765+1G>C splice_donor ACAP2 1 80640 1.24008E-5 40320 0 NA
3-195015465-T-C p.Asn583Ser missense ACAP2 2 81690 2.44828E-5 40845 0 1.90984E-4
3-195015473-C-T p.Val580Val synonymous ACAP2 3 81866 3.66452E-5 40933 0 1.19353E-5
3-195015475-C-T p.Val580Met missense ACAP2 2 81894 2.44218E-5 40947 0 3.97826E-6
3-195015476-C-T p.Thr579Thr synonymous ACAP2 4 81884 4.88496E-5 40942 0 3.18269E-5
3-195015477-G-A p.Thr579Met missense ACAP2 3 81874 3.66417E-5 40937 0 5.78054E-5
3-195015490-A-G p.Ser575Pro missense ACAP2 1 82056 1.21868E-5 41028 0 0.00100705
3-195015493-C-G p.Glu574Gln missense ACAP2 1 82096 1.21809E-5 41048 0 NA
3-195015502-C-T p.Asp571Asn missense ACAP2 1 82134 1.21752E-5 41067 0 NA
3-195015522-C-A p.Gly564Val missense ACAP2 3 81602 3.67638E-5 40801 0 NA
3-195015930-C-T p.Arg149His missense ACAP2 7 77416 9.04206E-5 38708 0 1.41463E-4
3-195015957-G-A p.Ser140Phe missense ACAP2 2 77470 2.58164E-5 38735 0 2.18869E-5
3-195015962-G-A p.Leu138Leu synonymous ACAP2 1 77474 1.29076E-5 38737 0 NA
3-195015999-C-T p.Arg126Gln missense ACAP2 1 77516 1.29006E-5 38758 0 NA
3-195016008-T-A p.Glu123Val missense ACAP2 4 77502 5.16116E-5 38751 0 NA
3-195016009-C-T p.Glu123Lys missense ACAP2 1 77490 1.29049E-5 38745 0 7.02741E-5
3-195016012-C-T p.Asp122Asn missense ACAP2 1 77500 1.29032E-5 38750 0 6.36902E-5
3-195016016-A-G p.Asn120Asn synonymous ACAP2 1 77492 1.29046E-5 38746 0 3.1841E-5
3-195016029-A-G p.Val116Ala missense+splice_region ACAP2 1 77430 1.29149E-5 38715 0 NA
3-195016033-G-A c.347-4C>T splice_region ACAP2 1 77416 1.29172E-5 38708 0 NA
3-195016177-G-A n.757C>T splice_region ACAP2 1 56992 1.75463E-5 28496 0 NA
3-195016177-G-T n.757C>A splice_region ACAP2 2 56992 3.50926E-5 28496 0 3.18613E-5
3-195016429-T-C c.1672+8A>G splice_region ACAP2 2 83196 2.40396E-5 41598 0 6.76391E-5
3-195016431-C-T c.1672+6G>A splice_region ACAP2 2 83196 2.40396E-5 41598 0 4.12718E-5
3-195016432-C-T c.1672+5G>A splice_region ACAP2 2 83200 2.40385E-5 41600 0 NA
3-195016442-C-T p.Ser556Asn missense ACAP2 1 83242 1.20132E-5 41621 0 NA
3-195016470-C-G p.Gly547Arg missense ACAP2 1 83240 1.20135E-5 41620 0 NA
3-195016502-T-C p.Glu536Gly missense ACAP2 1 83190 1.20207E-5 41595 0 NA
3-195016519-G-A p.Val530Val synonymous ACAP2 87 83106 0.00104686 41553 0 0.00245317
3-195016519-G-C p.Val530Val synonymous ACAP2 5 83106 6.01641E-5 41553 0 3.18593E-5
3-195016531-T-C p.Gln526Gln synonymous ACAP2 1 83066 1.20386E-5 41533 0 1.65942E-5
3-195016545-G-T p.Pro522Thr missense ACAP2 3 82978 3.61542E-5 41489 0 3.9846E-6
3-195016557-T-C p.Ile518Val missense ACAP2 1 82926 1.20589E-5 41463 0 NA
3-195016576-T-C p.Lys511Lys synonymous ACAP2 6 82800 7.24638E-5 41400 0 1.27437E-4
3-195016608-C-T p.Ala501Thr missense ACAP2 1 82244 1.21589E-5 41122 0 NA
3-195016622-C-CTT c.1488-2_1488-1insAA splice_acceptor ACAP2 1 81676 1.22435E-5 40838 0 NA
3-195016626-C-T c.1488-5G>A splice_region ACAP2 1947 81258 0.0239607 40629 44 0.0575679
3-195017911-A-G c.1487+8T>C splice_region ACAP2 1 82858 1.20688E-5 41429 0 6.37064E-5
3-195017913-T-TTTC c.1487+5_1487+6insGAA splice_region ACAP2 2 82866 2.41354E-5 41433 0 NA
3-195017924-T-C p.Gly494Gly synonymous ACAP2 1 83000 1.20482E-5 41500 0 NA
3-195017942-T-C p.Ile488Met missense ACAP2 1 83048 1.20412E-5 41524 0 8.24525E-6
3-195017983-T-C p.Ile475Val missense ACAP2 2 83044 2.40836E-5 41522 0 NA
3-195018010-G-T p.Leu466Ile missense+splice_region ACAP2 1 82942 1.20566E-5 41471 0 NA
3-195018010-G-C p.Leu466Val missense+splice_region ACAP2 1 82942 1.20566E-5 41471 0 NA
3-195018011-C-A c.1396-1G>T splice_acceptor ACAP2 1 82938 1.20572E-5 41469 0 NA
3-195022312-G-A p.Leu463Phe missense ACAP2 1 83104 1.20331E-5 41552 0 1.21783E-5
3-195022313-T-C p.Glu462Glu synonymous ACAP2 42 83110 5.05354E-4 41555 0 7.6318E-4
3-195022330-CTAAAGT-C p.Thr455_Leu456del conservative_inframe_deletion ACAP2 1 83188 1.2021E-5 41594 0 NA
3-195022374-C-CGG c.1326-2_1326-1insCC splice_acceptor ACAP2 1 83108 1.20325E-5 41554 0 NA
3-195022374-C-CGGTGAATTCCGGAGCACTCGATACACAAGGTGATGCCCAGGTTGA c.1326-2_1326-1insTCAACCTGGGCATCACCTTGTGTATCGAGTGCTCCGGAATTCACC splice_acceptor ACAP2 1 83106 1.20328E-5 41553 0 NA
3-195022379-TG-T c.1326-7delC splice_region ACAP2 1 83052 1.20406E-5 41526 0 1.66409E-5
3-195022381-G-A c.1326-8C>T splice_region ACAP2 2 83022 2.409E-5 41511 0 8.32529E-6
3-195022695-C-T p.Arg442Gln missense+splice_region ACAP2 1 82678 1.20951E-5 41339 0 4.00042E-6
3-195022700-A-C p.Ile440Met missense ACAP2 2 82704 2.41826E-5 41352 0 5.80527E-5
3-195022715-G-C p.Ile435Met missense ACAP2 1 82784 1.20796E-5 41392 0 NA
3-195022733-C-T p.Leu429Leu synonymous ACAP2 1 82844 1.20709E-5 41422 0 NA
3-195022735-G-A p.Leu429Leu synonymous ACAP2 1 82858 1.20688E-5 41429 0 8.27787E-6
3-195022745-G-A p.Ala425Ala synonymous ACAP2 3 82878 3.61978E-5 41439 0 8.27623E-6
3-195022756-G-A p.Pro422Ser missense ACAP2 3 82888 3.61934E-5 41444 0 3.18471E-5
3-195022793-A-G p.Pro409Pro synonymous ACAP2 1 82966 1.20531E-5 41483 0 NA
3-195022796-G-A p.Ile408Ile synonymous ACAP2 2 82974 2.41039E-5 41487 0 1.19435E-5
3-195022809-C-T p.Arg404Gln missense ACAP2 2 83006 2.40946E-5 41503 0 1.65404E-5
3-195022817-C-T p.Ala401Ala synonymous ACAP2 13 83010 1.56608E-4 41505 0 1.59266E-4
3-195022835-T-A p.Leu395Phe missense ACAP2 1 83016 1.20459E-5 41508 0 NA
3-195022850-C-T p.Glu390Glu synonymous ACAP2 1 82976 1.20517E-5 41488 0 NA
3-195022851-T-C p.Glu390Gly missense ACAP2 1 82978 1.20514E-5 41489 0 NA
3-195022861-A-G p.Ser387Pro missense ACAP2 1 82928 1.20587E-5 41464 0 NA
3-195022865-T-C p.Leu385Leu synonymous ACAP2 10 82906 1.20619E-4 41453 0 7.96508E-5
3-195022868-G-T p.Ser384Arg missense ACAP2 5 82884 6.03253E-5 41442 0 1.65648E-5
3-195022872-C-T p.Gly383Glu missense ACAP2 1 82854 1.20694E-5 41427 0 3.98448E-6
3-195022896-T-C p.Asp375Gly missense ACAP2 1 82532 1.21165E-5 41266 0 3.18776E-5
3-195022901-C-T p.Lys373Lys splice_region+synonymous ACAP2 1 82402 1.21356E-5 41201 0 NA
3-195022906-A-G c.1117-3T>C splice_region ACAP2 1 82230 1.2161E-5 41115 0 4.06702E-6
3-195027250-T-C p.Asp369Gly missense ACAP2 4 82942 4.82265E-5 41471 0 1.07095E-4
3-195027270-A-G p.Thr362Thr synonymous ACAP2 5 83076 6.01859E-5 41538 0 1.99674E-5
3-195027303-T-C p.Ala351Ala synonymous ACAP2 1 83114 1.20317E-5 41557 0 6.78264E-5
3-195027310-C-T p.Arg349His missense ACAP2 1 83080 1.20366E-5 41540 0 1.59937E-5
3-195027321-G-A p.Ser345Ser synonymous ACAP2 1 83068 1.20383E-5 41534 0 3.1904E-5
3-195027329-C-A p.Ala343Ser missense ACAP2 1 83052 1.20406E-5 41526 0 NA
3-195027339-G-A p.Cys339Cys synonymous ACAP2 2754 82908 0.0332175 41454 89 0.06375
3-195027349-A-C c.1011-4T>G splice_region ACAP2 1 82938 1.20572E-5 41469 0 3.18715E-5
3-195027945-C-T c.1010+7G>A splice_region ACAP2 1 82882 1.20653E-5 41441 0 4.1214E-5
3-195027948-T-C c.1010+4A>G splice_region ACAP2 1 82890 1.20642E-5 41445 0 8.24266E-6
3-195027949-T-C c.1010+3A>G splice_region ACAP2 2 82866 2.41354E-5 41433 0 8.24239E-6
3-195027949-T-A c.1010+3A>T splice_region ACAP2 1 82866 1.20677E-5 41433 0 NA
3-195027961-G-A p.Ser334Leu missense ACAP2 1 82950 1.20555E-5 41475 0 1.64791E-5
3-195027978-G-A p.Phe328Phe synonymous ACAP2 1 82998 1.20485E-5 41499 0 6.37105E-5
3-195027990-T-C p.Ile324Met missense ACAP2 6 83034 7.22596E-5 41517 0 8.23832E-6
3-195027992-T-G p.Ile324Leu missense ACAP2 2 83018 2.40912E-5 41509 0 3.18593E-5
3-195027992-T-C p.Ile324Val missense ACAP2 1 83018 1.20456E-5 41509 0 NA
3-195028002-A-G p.His320His synonymous ACAP2 20 82970 2.41051E-4 41485 0 2.54842E-4
3-195028003-T-C p.His320Arg missense ACAP2 1 82968 1.20528E-5 41484 0 5.03525E-4
3-195028011-T-C p.Thr317Thr synonymous ACAP2 3 82944 3.6169E-5 41472 0 8.23886E-6
3-195028026-G-A p.Asp312Asp synonymous ACAP2 1 82848 1.20703E-5 41424 0 NA
3-195028045-G-A p.Pro306Leu missense ACAP2 4 82710 4.83617E-5 41355 0 2.40254E-5
3-195028056-T-C c.910-4A>G splice_region ACAP2 1 82552 1.21136E-5 41276 0 3.18512E-5
3-195028058-G-T c.910-6C>A splice_region ACAP2 3 82526 3.63522E-5 41263 0 NA
3-195029519-A-T p.Phe302Tyr missense ACAP2 1 82768 1.2082E-5 41384 0 NA
3-195029572-GA-G c.858-7delT splice_region ACAP2 1 82666 1.20969E-5 41333 0 NA
3-195041461-G-T p.Arg276Arg synonymous ACAP2 2 82930 2.41167E-5 41465 0 NA
3-195041494-T-G p.Asn265His missense ACAP2 1 83012 1.20465E-5 41506 0 1.98938E-5
3-195041506-C-T p.Val261Ile missense ACAP2 4 82934 4.82311E-5 41467 0 8.35688E-5
3-195041507-G-C p.Asn260Lys missense ACAP2 4 82938 4.82288E-5 41469 0 6.37755E-5
3-195041507-G-A p.Asn260Asn synonymous ACAP2 2 82938 2.41144E-5 41469 0 3.58169E-5
3-195041535-G-C p.Ser251Cys missense ACAP2 1 82722 1.20887E-5 41361 0 NA
3-195041548-C-T c.745-6G>A splice_region ACAP2 1 82448 1.21289E-5 41224 0 3.99345E-6
3-195041548-C-G c.745-6G>C splice_region ACAP2 3 82448 3.63866E-5 41224 0 3.59411E-5
3-195041548-C-A c.745-6G>T splice_region ACAP2 4 82448 4.85154E-5 41224 0 1.41868E-4
3-195046172-C-T c.366+1G>A splice_donor ACAP2 2 51042 3.91834E-5 25521 0 0.00587278
3-195046173-C-T p.Gln122Gln splice_region+synonymous ACAP2 3 51138 5.86648E-5 25569 0 0.00512821
3-195046180-G-A p.Ala120Val missense ACAP2 3 52134 5.7544E-5 26067 0 7.56087E-5
3-195046188-G-C c.355-4C>G splice_region ACAP2 1 52500 1.90476E-5 26250 0 NA
3-195047604-CCT-C c.744+8_744+9delAG splice_region ACAP2 81 83128 9.74401E-4 41564 1 5.67423E-4
3-195047664-C-A p.Ala232Ser missense ACAP2 2 83302 2.4009E-5 41651 0 1.66864E-5
3-195047691-G-GTGCACCAAGATCCTTCATGTAGGGTCCAAGTTCAC c.670-4_670-3insGTGAACTTGGACCCTACATGAAGGATCTTGGTGCA splice_region ACAP2 1 83240 1.20135E-5 41620 0 NA
3-195047692-T-C c.670-4A>G splice_region ACAP2 3 83246 3.60378E-5 41623 0 4.0103E-6
3-195053749-A-C c.669+8T>G splice_region ACAP2 2 82566 2.4223E-5 41283 0 4.24812E-6
3-195053753-T-C c.669+4A>G splice_region ACAP2 1 82674 1.20957E-5 41337 0 3.18593E-5
3-195053760-T-G p.Ala222Ala synonymous ACAP2 2 82798 2.41552E-5 41399 0 NA
3-195053769-A-G p.Asp219Asp synonymous ACAP2 4 82896 4.82532E-5 41448 0 1.07176E-4
3-195053782-G-A p.Pro215Leu missense ACAP2 2 82970 2.41051E-5 41485 0 1.64821E-5
3-195053801-G-T p.Leu209Met missense ACAP2 4 83036 4.81719E-5 41518 0 1.61941E-5
3-195053808-T-A p.Gly206Gly synonymous ACAP2 1 83032 1.20435E-5 41516 0 NA
3-195053808-T-C p.Gly206Gly synonymous ACAP2 1 83032 1.20435E-5 41516 0 8.24008E-6
3-195053826-C-T p.Leu200Leu synonymous ACAP2 2 82948 2.41115E-5 41474 0 3.29707E-5
3-195053830-T-C p.His199Arg missense ACAP2 5 82918 6.03005E-5 41459 0 2.03698E-5
3-195053851-A-ATTGATTTTAGGATT p.Met192fs frameshift ACAP2 5 82552 6.05679E-5 41276 2 NA
3-195053857-T-C c.574-5A>G splice_region ACAP2 1 82328 1.21465E-5 41164 0 8.29146E-6
3-195053859-G-C c.574-7C>G splice_region ACAP2 1 82276 1.21542E-5 41138 0 NA
3-195057667-T-C p.Leu189Leu synonymous ACAP2 5 82526 6.0587E-5 41263 0 6.25E-4
3-195057688-T-C p.Ser182Ser synonymous ACAP2 2 82598 2.42137E-5 41299 0 4.02162E-6
3-195057701-T-C p.Asn178Ser missense ACAP2 1 82570 1.21109E-5 41285 0 3.1839E-5
3-195057713-A-G c.529-8T>C splice_region ACAP2 3 82496 3.63654E-5 41248 0 8.33959E-6
3-195063209-A-G p.Tyr173Tyr synonymous ACAP2 1 83316 1.20025E-5 41658 0 NA
3-195063215-G-A p.Leu171Leu synonymous ACAP2 1 83324 1.20013E-5 41662 0 4.15282E-5
3-195063215-G-T p.Leu171Leu synonymous ACAP2 2 83324 2.40027E-5 41662 0 3.32226E-5
3-195063221-T-C p.Ile169Met missense ACAP2 1 83342 1.19988E-5 41671 0 1.21886E-5
3-195063272-A-C p.Val152Val synonymous ACAP2 9 83364 1.0796E-4 41682 0 5.03525E-4
3-195063280-GTTGT-G p.Lys148fs frameshift ACAP2 1 83362 1.19959E-5 41681 0 NA
3-195063281-T-C p.Gln149Gln synonymous ACAP2 1 83362 1.19959E-5 41681 0 3.9953E-6
3-195063283-GT-G p.Lys148fs frameshift ACAP2 1 83366 1.19953E-5 41683 0 NA
3-195063298-C-T p.Val144Ile missense ACAP2 1 83356 1.19967E-5 41678 0 NA
3-195063302-G-C p.Ala142Ala synonymous ACAP2 39 83342 4.67951E-4 41671 0 6.05404E-4
3-195063317-C-T p.Ala137Ala synonymous ACAP2 5 83326 6.00053E-5 41663 0 1.40805E-4
3-195063318-G-A p.Ala137Val missense ACAP2 1 83320 1.20019E-5 41660 0 3.18979E-5
3-195063347-G-A p.Phe127Phe synonymous ACAP2 2047 83110 0.02463 41555 58 0.055
3-195063356-C-CAGGTATA p.Lys124fs frameshift ACAP2 1 83164 1.20244E-5 41582 0 NA
3-195063358-T-A p.Lys124* stop_gained ACAP2 1 83136 1.20285E-5 41568 0 NA
3-195063359-G-A p.Ala123Ala synonymous ACAP2 11 83116 1.32345E-4 41558 0 4.14514E-4
3-195063366-T-C p.Lys121Arg missense ACAP2 1 83052 1.20406E-5 41526 0 NA
3-195063390-A-C c.345-7T>G splice_region ACAP2 5 82474 6.06252E-5 41237 0 9.55231E-5
3-195066010-G-T p.Gln108Lys missense ACAP2 2 82742 2.41715E-5 41371 0 NA
3-195066019-T-C p.Ile105Val missense ACAP2 2 82748 2.41698E-5 41374 0 5.03525E-4
3-195066024-C-T p.Arg103Lys missense ACAP2 1 82714 1.20899E-5 41357 0 3.99399E-6
3-195066024-C-G p.Arg103Thr missense ACAP2 1 82714 1.20899E-5 41357 0 NA
3-195076793-G-A c.144+4C>T splice_region ACAP2 1 45382 2.20352E-5 22691 0 NA
3-195076794-T-C c.144+3A>G splice_region ACAP2 2 45660 4.3802E-5 22830 0 NA
3-195076821-G-A p.Phe40Phe synonymous ACAP2 1 49636 2.01467E-5 24818 0 0.00110518
3-195076825-AG-A p.Leu39fs frameshift ACAP2 112 49940 0.00224269 24970 0 0.00442619
3-195076829-T-C p.Ile38Val missense ACAP2 1 50252 1.98997E-5 25126 0 9.13409E-5
3-195076840-GTCT-G p.Lys33del disruptive_inframe_deletion ACAP2 6 50840 1.18017E-4 25420 0 9.06454E-5
3-195076860-G-C p.Gly27Gly synonymous ACAP2 2 51494 3.88395E-5 25747 0 2.23694E-5
3-195076864-TC-T p.Glu26fs frameshift ACAP2 1 51544 1.94009E-5 25772 0 NA
3-195076867-C-T p.Gly25Glu missense ACAP2 1 51582 1.93866E-5 25791 0 1.27356E-4
3-195076867-C-A p.Gly25Val missense ACAP2 1 51582 1.93866E-5 25791 0 NA
3-195076868-C-T p.Gly25Arg missense ACAP2 9 51584 1.74473E-4 25792 1 5.13913E-4
3-195076869-C-T p.Met24Ile missense ACAP2 1 51596 1.93813E-5 25798 0 7.44613E-6
3-195076873-C-T p.Arg23His missense ACAP2 6 51596 1.16288E-4 25798 0 1.48876E-4
3-195076874-G-A p.Arg23Cys missense ACAP2 9 51604 1.74405E-4 25802 0 4.77555E-4
3-195076877-C-G p.Glu22Gln missense ACAP2 30718 50974 0.602621 25487 9524 0.594375
3-195076880-A-G p.Tyr21His missense ACAP2 8 51700 1.54739E-4 25850 0 9.55353E-5
3-195076898-AG-A p.Ser15fs frameshift ACAP2 6 51782 1.1587E-4 25891 0 2.52653E-4
3-195076900-G-A p.Ser14Phe missense ACAP2 1 51794 1.93073E-5 25897 0 7.42214E-6
3-195076908-TGC-T p.Ala11fs frameshift ACAP2 53 51782 0.00102352 25891 0 7.79279E-4
3-195076910-C-A p.Ala11Ser missense ACAP2 1 51770 1.93162E-5 25885 0 NA
3-195076910-C-CGCT p.Ser10dup conservative_inframe_insertion ACAP2 1 51770 1.93162E-5 25885 0 2.53635E-4
3-195076911-G-A p.Ser10Ser synonymous ACAP2 1 51782 1.93117E-5 25891 0 3.18715E-5
3-195076919-C-T p.Val8Met missense ACAP2 3 51796 5.79195E-5 25898 0 8.4717E-5
3-195076924-A-G p.Phe6Ser missense ACAP2 1 51782 1.93117E-5 25891 0 8.91583E-5
3-195076929-G-C p.Cys4Trp missense ACAP2 2 51760 3.86399E-5 25880 0 3.18431E-5
3-195101731-C-T c.285+7G>A splice_region ACAP2 2 82562 2.42242E-5 41281 0 1.28496E-5
3-195101760-T-A p.Gln88Leu missense ACAP2 1 82722 1.20887E-5 41361 0 4.19794E-6
3-195101777-C-T p.Lys82Lys synonymous ACAP2 1 82664 1.20972E-5 41332 0 NA
3-195101780-G-C p.Thr81Thr synonymous ACAP2 2 82620 2.42072E-5 41310 0 NA
3-195101795-T-C c.232-4A>G splice_region ACAP2 2 82406 2.42701E-5 41203 0 NA
3-195102633-T-A p.Glu77Val missense+splice_region ACAP2 1 82816 1.2075E-5 41408 0 NA
3-195102634-C-T p.Glu77Lys missense+splice_region ACAP2 2 82820 2.41488E-5 41410 0 1.65434E-5
3-195102637-C-T p.Val76Ile missense ACAP2 4 82812 4.83022E-5 41406 0 6.61594E-5
3-195102638-G-T p.Val75Val synonymous ACAP2 2 82806 2.41528E-5 41403 0 NA
3-195102638-G-A p.Val75Val synonymous ACAP2 1 82806 1.20764E-5 41403 0 1.27757E-5
3-195102645-T-G p.Asp73Ala missense ACAP2 1 82880 1.20656E-5 41440 0 NA
3-195102654-G-C p.Ser70Cys missense ACAP2 3 82962 3.61611E-5 41481 0 NA
3-195102676-T-C p.Ile63Val missense ACAP2 2 83008 2.40941E-5 41504 0 3.21007E-5
3-195102677-C-T p.Gly62Gly synonymous ACAP2 2 83016 2.40917E-5 41508 0 6.43335E-5
3-195102705-C-T p.Cys53Tyr missense ACAP2 1 83006 1.20473E-5 41503 0 NA
3-195102710-G-C p.Ala51Ala synonymous ACAP2 1 82976 1.20517E-5 41488 0 NA
3-195102735-A-G p.Ile43Thr missense ACAP2 1 82840 1.20715E-5 41420 0 8.49228E-6
3-195102736-T-C p.Ile43Val missense ACAP2 1 82816 1.2075E-5 41408 0 NA
3-195102744-T-C p.Lys40Arg missense ACAP2 1 82742 1.20858E-5 41371 0 NA
3-195102748-C-A p.Val39Leu missense ACAP2 2 82736 2.41733E-5 41368 0 8.76148E-6
3-195102752-C-A c.112-1G>T splice_acceptor ACAP2 1 82686 1.20939E-5 41343 0 1.32719E-5
3-195102754-G-A c.112-3C>T splice_region ACAP2 1 82658 1.2098E-5 41329 0 1.85281E-4
3-195112834-T-C p.Glu32Glu synonymous ACAP2 16 83052 1.9265E-4 41526 0 1.91046E-4
3-195112849-A-G p.Asp27Asp synonymous ACAP2 5 83034 6.02163E-5 41517 0 1.91083E-4
3-195112872-C-A p.Ala20Ser missense ACAP2 1 82954 1.20549E-5 41477 0 NA
3-195112879-AG-A c.54-4delC splice_region ACAP2 1 82856 1.20691E-5 41428 0 NA
3-195112882-A-T c.54-6T>A splice_region ACAP2 3 82776 3.62424E-5 41388 0 NA
3-195131428-G-A c.*277+8C>T splice_region ACAP2 2 14606 1.3693E-4 7303 0 NA
3-195133584-C-T p.Val39Met missense ACAP2 3 51144 5.86579E-5 25572 0 0.00235466
3-195133585-G-A p.Cys38Cys synonymous ACAP2 1 51174 1.95412E-5 25587 0 1.6239E-4
3-195133587-A-AGG p.Cys38fs frameshift ACAP2 1 51208 1.95282E-5 25604 0 NA
3-195133596-G-C p.Leu35Val missense ACAP2 1 51344 1.94765E-5 25672 0 NA
3-195133625-A-G p.Leu25Ser missense ACAP2 1 51338 1.94787E-5 25669 0 1.48677E-5
3-195133631-C-T p.Arg23Lys missense ACAP2 13 51334 2.53243E-4 25667 1 0.0014644
3-195133640-C-T p.Arg20His missense ACAP2 7 51312 1.3642E-4 25656 0 4.77981E-4
3-195163517-C-G c.53+7G>C splice_region ACAP2 1 76612 1.30528E-5 38306 0 5.61167E-5
3-195163546-G-A c.-44C>T 5_prime_UTR_premature_start_codon_gain ACAP2 2 77002 2.59734E-5 38501 0 NA
3-195163549-A-C p.Cys10Gly missense ACAP2 2 76918 2.60017E-5 38459 0 NA
3-195163556-G-A c.-54C>T 5_prime_UTR_premature_start_codon_gain ACAP2 1 76834 1.30151E-5 38417 0 7.69776E-6
3-195163564-C-G p.Val5Leu missense ACAP2 1 76684 1.30405E-5 38342 0 NA
3-195163594-G-A c.-18C>T 5_prime_UTR_premature_start_codon_gain ACAP2 2 74368 2.68933E-5 37184 0 1.76504E-5
3-195163612-G-A c.-36C>T 5_prime_UTR_premature_start_codon_gain ACAP2 1 71870 1.3914E-5 35935 0 NA
3-195163646-G-A c.-70C>T 5_prime_UTR_premature_start_codon_gain ACAP2 5 61834 8.08617E-5 30917 0 6.37592E-5
3-195163686-G-A c.-110C>T 5_prime_UTR_premature_start_codon_gain ACAP2 2 46092 4.33915E-5 23046 0 NA
3-195163718-T-G c.-142A>C 5_prime_UTR_premature_start_codon_gain ACAP2 1 34646 2.88634E-5 17323 0 NA
3-195163723-G-T c.-147C>A 5_prime_UTR_premature_start_codon_gain ACAP2 2 32974 6.06538E-5 16487 0 NA
3-195163737-G-A c.-161C>T 5_prime_UTR_premature_start_codon_gain ACAP2 1 29392 3.40229E-5 14696 0 3.18939E-5
3-195163756-G-A c.-180C>T 5_prime_UTR_premature_start_codon_gain ACAP2 611 24036 0.0254202 12018 5 0.0196147