Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-125542230-G-A c.*258C>T splice_region ACRV1 2 42060 4.75511E-5 21030 0 3.18735E-5
11-125542379-G-A c.*109C>T splice_region ACRV1 1 82152 1.21726E-5 41076 0 NA
11-125542492-A-G p.Ile246Thr missense ACRV1 4 83202 4.80758E-5 41601 0 6.37105E-5
11-125542509-T-A p.Gln240His missense ACRV1 4 83172 4.80931E-5 41586 0 2.786E-5
11-125542509-T-C p.Gln240Gln synonymous ACRV1 1 83172 1.20233E-5 41586 0 3.98E-6
11-125542516-C-T p.Arg238Gln missense ACRV1 3 83152 3.60785E-5 41576 0 1.19406E-5
11-125542536-C-A p.Arg231Ser missense ACRV1 1 83140 1.20279E-5 41570 0 NA
11-125542539-C-T p.Thr230Thr synonymous ACRV1 2 83120 2.40616E-5 41560 0 6.37024E-5
11-125542545-A-G p.His228His synonymous ACRV1 5 83120 6.0154E-5 41560 0 1.98991E-5
11-125542569-G-A p.Cys220Cys synonymous ACRV1 1 83092 1.20349E-5 41546 0 NA
11-125542573-A-G p.Met219Thr missense ACRV1 1 83082 1.20363E-5 41541 0 3.98042E-6
11-125542576-T-A p.Asn218Ile missense ACRV1 148 83066 0.00178172 41533 4 0.0175
11-125542576-T-C p.Asn218Ser missense ACRV1 1 83066 1.20386E-5 41533 0 NA
11-125542578-C-T p.Glu217Glu synonymous ACRV1 6 83060 7.22369E-5 41530 0 NA
11-125542582-C-A p.Cys216Phe missense ACRV1 2 83036 2.40859E-5 41518 1 NA
11-125542586-C-T p.Gly215Arg missense ACRV1 1 83020 1.20453E-5 41510 0 NA
11-125542594-A-AACTCTTTCTC p.Met212fs frameshift ACRV1 1 82982 1.20508E-5 41491 0 NA
11-125542595-T-C p.Met212Val missense ACRV1 1 82972 1.20523E-5 41486 0 7.96743E-6
11-125542596-G-C p.Phe211Leu missense ACRV1 1 82970 1.20525E-5 41485 0 NA
11-125542601-G-GA p.Gln210fs frameshift ACRV1 2 82932 2.41161E-5 41466 0 NA
11-125542604-G-T p.Leu209Ile missense ACRV1 1 82902 1.20624E-5 41451 0 6.36862E-5
11-125542615-G-A c.617-3C>T splice_region ACRV1 1 82770 1.20817E-5 41385 0 3.98718E-6
11-125546262-ATCT-A p.Lys202del disruptive_inframe_deletion ACRV1 1 83286 1.20068E-5 41643 0 NA
11-125546274-A-G p.Met199Thr missense ACRV1 1 83356 1.19967E-5 41678 0 2.47137E-5
11-125546279-C-T p.Gln197Gln synonymous ACRV1 2 83350 2.39952E-5 41675 0 3.977E-6
11-125546297-G-A p.Ile191Ile synonymous ACRV1 1 83350 1.19976E-5 41675 0 5.03525E-4
11-125546303-G-T p.Thr189Thr synonymous ACRV1 2 83346 2.39964E-5 41673 0 8.23683E-6
11-125546304-G-C p.Thr189Ser missense ACRV1 1 83344 1.19985E-5 41672 0 NA
11-125546312-T-A p.Gly186Gly synonymous ACRV1 22 83348 2.63954E-4 41674 0 6.68832E-4
11-125546313-C-G p.Gly186Ala missense ACRV1 1 83346 1.19982E-5 41673 0 2.47113E-5
11-125546316-C-T p.Arg185His missense ACRV1 3 83348 3.59937E-5 41674 0 3.29478E-5
11-125546318-A-G p.Leu184Leu synonymous ACRV1 1 83346 1.19982E-5 41673 0 NA
11-125546330-T-G p.Gln180His missense ACRV1 1 83336 1.19996E-5 41668 0 1.9885E-5
11-125546336-A-G p.Asn178Asn synonymous ACRV1 2 83336 2.39992E-5 41668 0 3.97728E-6
11-125546338-T-G p.Asn178His missense ACRV1 2 83332 2.40004E-5 41666 0 NA
11-125546342-A-G p.Tyr176Tyr synonymous ACRV1 1 83330 1.20005E-5 41665 0 NA
11-125546346-G-T p.Ala175Asp missense ACRV1 1 83316 1.20025E-5 41658 0 3.18532E-5
11-125546358-C-T p.Cys171Tyr missense ACRV1 2 83248 2.40246E-5 41624 0 8.23859E-6
11-125546359-A-T p.Cys171Ser missense ACRV1 3 83242 3.60395E-5 41621 0 7.95684E-6
11-125546361-T-C p.Asn170Ser missense ACRV1 1 83234 1.20143E-5 41617 0 NA
11-125546365-A-G p.Leu169Leu synonymous ACRV1 1 83234 1.20143E-5 41617 0 3.18451E-5
11-125546370-G-A p.Thr167Ile missense ACRV1 7 83212 8.41225E-5 41606 0 6.25E-4
11-125546374-CT-C c.497-2delA splice_acceptor ACRV1 1 83182 1.20218E-5 41591 0 1.64832E-5
11-125546376-G-A c.497-3C>T splice_region ACRV1 15 83174 1.80345E-4 41587 0 NA
11-125547689-C-T c.343+3G>A splice_region ACRV1 3 83320 3.60058E-5 41660 0 3.19295E-5
11-125547704-T-A p.Ser111Cys missense ACRV1 1 83326 1.20011E-5 41663 0 NA
11-125547704-T-C p.Ser111Gly missense ACRV1 1 83326 1.20011E-5 41663 0 9.55657E-5
11-125547710-T-C p.Ile109Val missense ACRV1 4 83332 4.80008E-5 41666 0 1.6481E-5
11-125547716-C-A p.Ala107Ser missense ACRV1 1 83346 1.19982E-5 41673 0 NA
11-125547725-C-G p.Ala104Pro missense ACRV1 1 83356 1.19967E-5 41678 0 NA
11-125547729-T-C p.Glu102Glu synonymous ACRV1 2 83360 2.39923E-5 41680 0 3.18532E-5
11-125547733-C-A p.Gly101Val missense ACRV1 1 83352 1.19973E-5 41676 0 NA
11-125547733-C-T p.Gly101Glu missense ACRV1 3 83354 3.59911E-5 41677 0 NA
11-125547741-G-A c.496+8C>T splice_region ACRV1 25 83352 2.99933E-4 41676 0 5.09846E-4
11-125547747-A-C c.496+2T>G splice_donor ACRV1 2 83356 2.39935E-5 41678 0 NA
11-125547763-C-T p.Gly161Asp missense ACRV1 3 83360 3.59885E-5 41680 0 1.19309E-5
11-125547765-C-T p.Ser160Ser synonymous ACRV1 7 83350 8.39832E-5 41675 0 0.00187617
11-125547766-G-A p.Ser160Leu missense ACRV1 4 83352 4.79893E-5 41676 0 3.29473E-5
11-125547770-C-A p.Ala159Ser missense ACRV1 1 83354 1.1997E-5 41677 0 8.23696E-6
11-125547786-CTGTTCACCGGAGCCA-C p.His148_Glu152del disruptive_inframe_deletion ACRV1 2 83340 2.39981E-5 41670 0 3.97706E-6
11-125547791-C-G p.Glu152Gln missense ACRV1 4 83330 4.80019E-5 41665 0 0.00100705
11-125547793-C-T p.Gly151Asp missense ACRV1 1 83332 1.20002E-5 41666 0 8.23642E-6
11-125547794-C-T p.Gly151Ser missense ACRV1 142 83332 0.00170403 41666 1 0.00302115
11-125547795-G-A p.Ser150Ser synonymous ACRV1 1 83334 1.19999E-5 41667 0 3.97744E-6
11-125547796-G-C p.Ser150Cys missense ACRV1 2 83324 2.40027E-5 41662 0 1.64731E-5
11-125547801-ATGTTCACCTGAAGGCTGTTCATCTGAAGGCTGTTCACCTGACTCAAGCTCACTCAAAGGCTGTTCTCCGGAGAGG-A p.Gly41fs frameshift ACRV1 1 83332 1.20002E-5 41666 0 NA
11-125547808-CCTGAAGGCTGTTCAT-C p.Asp141_Ser145del disruptive_inframe_deletion ACRV1 1 83332 1.20002E-5 41666 0 4.94185E-5
11-125547808-C-CCTGAAGGCTGTTCAT p.Asp141_Ser145dup conservative_inframe_insertion ACRV1 1 83332 1.20002E-5 41666 0 NA
11-125547818-G-A p.Gln143* stop_gained ACRV1 1 83324 1.20013E-5 41662 0 NA
11-125547826-G-T p.Ser140* stop_gained ACRV1 1 83310 1.20034E-5 41655 0 3.97728E-6
11-125547830-G-C p.Pro139Ala missense ACRV1 2 83298 2.40102E-5 41649 0 3.97725E-6
11-125547845-C-G p.Glu134Gln missense ACRV1 6 83294 7.2034E-5 41647 0 6.3638E-5
11-125547854-T-C p.Ser131Gly missense ACRV1 1 83288 1.20065E-5 41644 0 3.9775E-6
11-125547856-A-AAAGGCTGTTCTCCGGAGAGGTGTTCACCTG p.Ser120_Pro129dup conservative_inframe_insertion ACRV1 1 83284 1.20071E-5 41642 0 1.19323E-5
11-125547856-A-C p.Leu130Trp missense ACRV1 1 83286 1.20068E-5 41643 0 NA
11-125547863-G-C p.Gln128Glu missense ACRV1 3 83272 3.60265E-5 41636 0 1.59096E-5
11-125547868-C-T p.Gly126Glu missense ACRV1 1 83264 1.201E-5 41632 0 9.55292E-5
11-125547869-C-T p.Gly126Arg missense ACRV1 6099 83178 0.0733247 41589 247 0.109768
11-125547870-G-A p.Ser125Ser synonymous ACRV1 3 83260 3.60317E-5 41630 0 7.9552E-6
11-125547872-A-G p.Ser125Pro missense ACRV1 2 83266 2.40194E-5 41633 0 NA
11-125547873-G-A p.Leu124Leu synonymous ACRV1 1 83268 1.20094E-5 41634 0 3.18451E-5
11-125547882-ACCTGAAGGCTGTTCT-A p.Glu62fs frameshift ACRV1 5 83250 6.00601E-5 41625 0 4.45505E-4
11-125547895-TCTC-T p.Gly116del disruptive_inframe_deletion ACRV1 6 83242 7.2079E-5 41621 0 4.61323E-4
11-125547906-CTGCTCACCTACAGTA-C p.Glu42fs frameshift ACRV1 1 83204 1.20187E-5 41602 0 8.23696E-6
11-125547910-T-C p.Glu112Gly missense ACRV1 1 83206 1.20184E-5 41603 0 NA
11-125547913-C-T p.Gly41Asp missense+splice_region ACRV1 2 83188 2.40419E-5 41594 0 3.18431E-5
11-125547921-A-G c.122-8T>C splice_region ACRV1 15 83182 1.80327E-4 41591 0 0.00125
11-125547929-C-T p.Gly106Ser missense ACRV1 2 83172 2.40466E-5 41586 0 9.55353E-5
11-125547945-C-T p.Ala100Ala synonymous ACRV1 6 83128 7.21778E-5 41564 0 4.77445E-5
11-125547946-G-A p.Ala100Val missense ACRV1 10 83118 1.20311E-4 41559 0 3.29484E-5
11-125547950-C-T p.Ala99Thr missense ACRV1 48 83118 5.77492E-4 41559 0 8.60037E-4
11-125547951-G-A p.Pro98Pro synonymous ACRV1 2 83104 2.40662E-5 41552 0 6.37146E-5
11-125547984-T-G p.Glu87Asp missense ACRV1 1 83096 1.20343E-5 41548 0 7.95824E-6
11-125547987-T-A p.Gly86Gly synonymous ACRV1 1 83090 1.20351E-5 41545 0 6.25E-4
11-125548002-G-A p.Ala81Ala synonymous ACRV1 4 83076 4.81487E-5 41538 0 6.36943E-5
11-125548030-T-C p.Glu72Gly missense ACRV1 1 83058 1.20398E-5 41529 0 NA
11-125548056-G-A p.Asn63Asn synonymous ACRV1 1 82980 1.20511E-5 41490 0 8.24226E-6
11-125548059-C-G p.Leu62Leu synonymous ACRV1 4 82966 4.82125E-5 41483 0 6.36699E-5
11-125548065-TGAA-T p.Ser60del disruptive_inframe_deletion ACRV1 1 82960 1.2054E-5 41480 0 3.98051E-6
11-125548069-G-C p.Ser59Cys missense ACRV1 1 82922 1.20595E-5 41461 0 8.24552E-6
11-125548076-CAT-C p.Tyr56fs frameshift ACRV1 1 82908 1.20616E-5 41454 0 8.24715E-6
11-125548077-A-G p.Tyr56Tyr synonymous ACRV1 5 82918 6.03005E-5 41459 0 NA
11-125548086-C-T p.Glu53Glu synonymous ACRV1 1 82870 1.20671E-5 41435 0 NA
11-125548100-G-C p.Pro49Ala missense ACRV1 1 82794 1.20782E-5 41397 0 1.99105E-5
11-125548103-T-A p.Asn48Tyr missense ACRV1 1 82788 1.2079E-5 41394 0 NA
11-125548106-C-T p.Glu47Lys missense ACRV1 1 82772 1.20814E-5 41386 0 NA
11-125548108-A-G p.Leu46Pro missense ACRV1 61 82774 7.36946E-4 41387 0 0.00105102
11-125548113-AAAG-A p.Phe44del disruptive_inframe_deletion ACRV1 20 82768 2.41639E-4 41384 0 5.03525E-4
11-125548156-A-G p.Ile30Thr missense ACRV1 2 82512 2.42389E-5 41256 0 5.03525E-4
11-125548158-G-A p.Ser29Ser synonymous ACRV1 1 82480 1.21242E-5 41240 0 NA
11-125548169-G-T p.Leu26Ile missense ACRV1 3 82346 3.64316E-5 41173 0 1.42944E-4
11-125548170-C-T p.Glu25Glu synonymous ACRV1 2 82322 2.42948E-5 41161 0 8.41043E-6
11-125548177-G-A p.Pro23Leu missense ACRV1 1 82168 1.21702E-5 41084 0 NA
11-125548181-G-A p.Gln22* stop_gained ACRV1 1 82042 1.21889E-5 41021 0 NA
11-125548192-C-T p.Gly18Glu missense+splice_region ACRV1 41 81674 5.01996E-4 40837 1 0.00131036
11-125548193-C-G c.53-1G>C splice_acceptor ACRV1 1 81672 1.22441E-5 40836 0 4.02379E-6
11-125548198-A-G c.53-6T>C splice_region ACRV1 1 81398 1.22853E-5 40699 0 2.0173E-5
11-125550621-C-T c.52+3G>A splice_region ACRV1 46 83144 5.53257E-4 41572 0 5.10778E-4
11-125550659-A-T p.Leu6* stop_gained ACRV1 1 83182 1.20218E-5 41591 0 3.98013E-6
11-125550745-G-A c.-70C>T 5_prime_UTR_premature_start_codon_gain ACRV1 7 81508 8.58811E-5 40754 0 6.37674E-5
11-125550894-T-C c.-219A>G 5_prime_UTR_premature_start_codon_gain ACRV1 1 34320 2.91375E-5 17160 0 NA
11-125550943-T-C c.-268A>G 5_prime_UTR_premature_start_codon_gain ACRV1 2 13972 1.43143E-4 6986 0 7.23851E-5