Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-37523983-CAAG-C n.565_*2delCTT splice_region ALG5 42 73752 5.69476E-4 36876 1 1.59398E-4
13-37523986-G-A n.565C>T splice_region ALG5 4 73746 5.42402E-5 36873 0 9.56145E-5
13-37524085-C-T p.Met323Ile missense ALG5 46 82824 5.55395E-4 41412 0 5.73358E-4
13-37524092-C-T p.Arg321Gln missense ALG5 1 82828 1.20732E-5 41414 0 5.78398E-5
13-37524094-A-C p.Thr320Thr synonymous ALG5 1 82870 1.20671E-5 41435 0 4.01252E-6
13-37524097-T-G p.Gln319His missense ALG5 2 82880 2.41313E-5 41440 0 3.18492E-5
13-37524102-C-G p.Glu318Gln missense ALG5 2 82916 2.41208E-5 41458 0 NA
13-37524104-A-G p.Leu317Pro missense ALG5 1 82938 1.20572E-5 41469 0 3.30115E-5
13-37524108-T-G p.Arg316Arg synonymous ALG5 1 82956 1.20546E-5 41478 0 NA
13-37524128-C-T p.Arg309Gln missense ALG5 4 82932 4.82323E-5 41466 0 8.2526E-6
13-37524133-T-C n.685A>G splice_region ALG5 1 82938 1.20572E-5 41469 0 NA
13-37524134-C-T p.Arg307Gln missense ALG5 7 82902 8.4437E-5 41451 0 6.25E-4
13-37524160-T-C p.Gln298Gln synonymous ALG5 2 82782 2.41598E-5 41391 0 6.36699E-5
13-37524194-C-CCTTCAATTT c.860-1_860insAAATTGAAG splice_acceptor ALG5 1 82316 1.21483E-5 41158 0 NA
13-37524200-A-G c.860-6T>C splice_region ALG5 1 82080 1.21832E-5 41040 0 2.61493E-5
13-37526676-A-T p.Ile278Ile synonymous ALG5 39 82826 4.70867E-4 41413 0 0.00243752
13-37526676-A-C p.Ile278Met missense ALG5 1 82832 1.20726E-5 41416 0 NA
13-37526682-T-A p.Ala276Ala synonymous ALG5 2 82840 2.41429E-5 41420 0 NA
13-37526691-A-C p.Ile273Met missense ALG5 1 82868 1.20674E-5 41434 0 NA
13-37526695-T-G p.Lys272Thr missense ALG5 2 82862 2.41365E-5 41431 0 NA
13-37526704-T-C p.Gln269Arg missense ALG5 2 82856 2.41383E-5 41428 0 1.27704E-5
13-37526717-G-C p.Leu265Val missense ALG5 1 82732 1.20872E-5 41366 0 2.32167E-5
13-37539715-C-T p.Arg257Gln missense ALG5 9 82578 1.08988E-4 41289 0 3.99709E-5
13-37539722-C-T p.Val255Ile missense ALG5 9 82682 1.08851E-4 41341 0 5.07099E-4
13-37539723-G-A p.His254His synonymous ALG5 1 82718 1.20893E-5 41359 0 8.26023E-6
13-37539738-C-T p.Thr249Thr synonymous ALG5 9 82836 1.08648E-4 41418 0 1.56678E-4
13-37539738-C-G p.Thr249Thr synonymous ALG5 3 82836 3.62161E-5 41418 0 NA
13-37539739-G-A p.Thr249Met missense ALG5 2 82854 2.41388E-5 41427 0 1.64908E-5
13-37539742-C-T p.Arg248Gln missense ALG5 1 82886 1.20648E-5 41443 0 3.18573E-5
13-37539743-G-A p.Arg248Trp missense ALG5 2 82898 2.4126E-5 41449 0 2.47317E-5
13-37539758-G-A p.Arg243* stop_gained ALG5 1 82986 1.20502E-5 41493 0 NA
13-37539767-A-G p.Leu240Leu synonymous ALG5 2 82998 2.4097E-5 41499 0 1.23616E-4
13-37539780-C-CCCAGCTAAT p.Gln235_Cys236insLeuAlaGly disruptive_inframe_insertion ALG5 1 83016 1.20459E-5 41508 0 NA
13-37539790-C-G p.Arg232Thr missense ALG5 1 83000 1.20482E-5 41500 0 8.24334E-6
13-37539791-T-C p.Arg232Gly missense ALG5 9 83008 1.08423E-4 41504 0 1.56621E-4
13-37539803-C-T p.Val228Ile missense ALG5 1 83008 1.2047E-5 41504 0 8.24457E-6
13-37539831-C-A p.Gly218Gly synonymous ALG5 1 82960 1.2054E-5 41480 0 NA
13-37539851-G-A p.Arg212Cys missense ALG5 1 82920 1.20598E-5 41460 0 NA
13-37539862-C-T p.Arg208His missense+splice_region ALG5 1 82824 1.20738E-5 41412 0 3.18613E-5
13-37539867-A-AGCAATTGATTCTTTTTCTAAATGAGCTCG c.622-5_622-4insCGAGCTCATTTAGAAAAAGAATCAATTGC splice_region ALG5 1 82782 1.20799E-5 41391 0 NA
13-37541808-C-A c.*64+1G>T splice_donor ALG5 1 22666 4.41189E-5 11333 0 NA
13-37541880-C-T p.Arg229Lys missense ALG5 258 30936 0.0083398 15468 7 0.0193018
13-37541886-T-A p.Tyr227Phe missense ALG5 1 31210 3.2041E-5 15605 0 8.57727E-5
13-37541886-T-C p.Tyr227Cys missense ALG5 1 31210 3.2041E-5 15605 0 7.79751E-6
13-37541910-G-T p.Pro219Gln missense ALG5 1 32094 3.11585E-5 16047 0 NA
13-37541950-G-A c.622-6C>T splice_region ALG5 1 32446 3.08204E-5 16223 0 7.9727E-5
13-37546117-A-G p.Ala206Ala synonymous ALG5 1 81950 1.22026E-5 40975 0 1.19851E-5
13-37546122-T-C p.Ile205Val missense ALG5 1 82024 1.21916E-5 41012 0 9.56755E-5
13-37546131-T-C p.Lys202Glu missense ALG5 2 82136 2.43499E-5 41068 0 3.99387E-6
13-37546146-G-A p.Arg197* stop_gained ALG5 1 82176 1.2169E-5 41088 0 NA
13-37546151-C-G p.Gly195Ala missense ALG5 6 82182 7.30087E-5 41091 0 3.18939E-5
13-37546156-T-C p.Ala193Ala synonymous ALG5 2 82150 2.43457E-5 41075 0 4.00042E-6
13-37546161-T-A p.Ile192Leu missense ALG5 3 81998 3.65863E-5 40999 0 3.18735E-5
13-37546168-T-C p.Gln189Gln synonymous ALG5 9 81594 1.10302E-4 40797 0 3.50475E-4
13-37546178-G-C c.562-5C>G splice_region ALG5 1 81388 1.22868E-5 40694 0 NA
13-37559765-G-C p.Pro187Arg missense+splice_region ALG5 6 82718 7.25356E-5 41359 0 6.25E-4
13-37559772-G-A p.Pro185Ser missense ALG5 1 82790 1.20788E-5 41395 0 NA
13-37559773-C-A p.Gln184His missense ALG5 1 82814 1.20753E-5 41407 0 NA
13-37559789-C-T p.Gly179Glu missense ALG5 1 82916 1.20604E-5 41458 0 1.64978E-5
13-37559791-C-G p.Lys178Asn missense ALG5 1 82934 1.20578E-5 41467 0 NA
13-37559838-C-T p.Asp163Asn missense ALG5 2 82910 2.41225E-5 41455 0 8.24715E-6
13-37559851-C-T p.Lys158Lys synonymous ALG5 1 82870 1.20671E-5 41435 0 3.18532E-5
13-37559858-C-G p.Gly156Ala missense ALG5 1 82818 1.20747E-5 41409 0 NA
13-37559861-C-T p.Arg155Gln missense ALG5 14 82764 1.69156E-4 41382 0 0.003125
13-37559866-A-G p.Ser153Ser synonymous ALG5 1 82684 1.20942E-5 41342 0 3.18532E-5
13-37559868-T-G p.Ser153Arg missense ALG5 2 82656 2.41967E-5 41328 0 NA
13-37559881-T-C c.448-4A>G splice_region ALG5 2 82194 2.43327E-5 41097 0 NA
13-37563613-T-C c.447+8A>G splice_region ALG5 1 82374 1.21398E-5 41187 0 NA
13-37563632-C-T p.Ala146Thr missense ALG5 1 82782 1.20799E-5 41391 0 NA
13-37563657-C-T p.Leu137Leu synonymous ALG5 1 82898 1.2063E-5 41449 0 3.98118E-6
13-37563670-C-T p.Arg133His missense ALG5 1 82844 1.20709E-5 41422 0 3.98137E-6
13-37563675-T-G p.Lys131Asn missense ALG5 2 82878 2.41319E-5 41439 0 7.96559E-6
13-37563676-T-A p.Lys131Ile missense ALG5 1 82882 1.20653E-5 41441 0 NA
13-37563678-G-A p.Asp130Asp synonymous ALG5 1 82868 1.20674E-5 41434 0 NA
13-37563684-T-G p.Gly128Gly synonymous ALG5 1 82848 1.20703E-5 41424 0 NA
13-37563690-T-C p.Lys96Lys splice_region+synonymous ALG5 2 82820 2.41488E-5 41410 0 3.58629E-5
13-37563696-G-A c.286-4C>T splice_region ALG5 1 82752 1.20843E-5 41376 0 3.98686E-6
13-37563719-A-G c.355-6T>C splice_region ALG5 1 82416 1.21336E-5 41208 0 NA
13-37567747-G-A p.Thr116Thr synonymous ALG5 7 82764 8.45778E-5 41382 0 3.98248E-6
13-37567761-T-C p.Ser112Gly missense ALG5 1 82858 1.20688E-5 41429 0 3.98124E-6
13-37567765-A-G p.Asp110Asp synonymous ALG5 1 82858 1.20688E-5 41429 0 NA
13-37567767-C-T p.Asp110Asn missense ALG5 1 82866 1.20677E-5 41433 0 NA
13-37567795-C-T p.Ala100Ala synonymous ALG5 7 82778 8.45635E-5 41389 0 4.95074E-5
13-37567796-G-A p.Ala100Val missense ALG5 7 82768 8.45737E-5 41384 1 5.04032E-4
13-37567797-C-G p.Ala100Pro missense ALG5 3 82788 3.62371E-5 41394 0 3.18728E-5
13-37567799-G-A p.Pro99Leu missense ALG5 2 82776 2.41616E-5 41388 0 NA
13-37567803-C-T p.Asp98Asn missense ALG5 1 82772 1.20814E-5 41386 0 NA
13-37567812-G-GTCTCTTCTCTAGATAGCTCAGAGCTTCATCCATCATCA c.286-4_286-3insTGATGATGGATGAAGCTCTGAGCTATCTAGAGAAGAGA splice_region ALG5 1 82672 1.2096E-5 41336 0 NA
13-37567812-G-GTCTCTTCTCTAGATAGCTCAGAGCTTCATCCATCAT c.286-4_286-3insATGATGGATGAAGCTCTGAGCTATCTAGAGAAGAGA splice_region ALG5 1 82672 1.2096E-5 41336 0 NA
13-37569118-C-T c.285+8G>A splice_region ALG5 2 82498 2.4243E-5 41249 0 NA
13-37569120-T-C c.285+6A>G splice_region ALG5 1 82532 1.21165E-5 41266 0 8.25641E-6
13-37569128-G-T p.Gln95Lys missense+splice_region ALG5 1 82606 1.21057E-5 41303 0 4.00038E-6
13-37569134-T-C p.Lys93Glu missense ALG5 3 82634 3.63047E-5 41317 0 0.00252016
13-37569144-G-T p.Ser89Arg missense ALG5 8 82638 9.68078E-5 41319 0 0.00187735
13-37569145-C-A p.Ser89Ile missense ALG5 2 82636 2.42025E-5 41318 0 NA
13-37569565-G-A p.Arg79Trp missense ALG5 1 83172 1.20233E-5 41586 0 NA
13-37569580-A-G p.Tyr74His missense ALG5 1 83274 1.20085E-5 41637 0 NA
13-37569590-AAC-GAT p.Val70Ile missense ALG5 2 83296 2.40108E-5 41648 0 NA
13-37569592-C-T p.Val70Ile missense ALG5 18 83294 2.16102E-4 41647 0 3.18471E-4
13-37569599-A-C p.Leu67Leu synonymous ALG5 1 83292 1.2006E-5 41646 0 NA
13-37569613-G-A p.Pro63Ser missense ALG5 1 83296 1.20054E-5 41648 0 NA
13-37569622-A-G p.Trp60Arg missense ALG5 56 83314 6.72156E-4 41657 0 0.001624
13-37569625-T-C p.Ile59Val missense ALG5 4 83314 4.80111E-5 41657 0 4.02421E-6
13-37569648-C-T p.Gly51Asp missense ALG5 1 83304 1.20042E-5 41652 0 3.18471E-5
13-37569649-C-A p.Gly51Cys missense ALG5 1 83314 1.20028E-5 41657 0 8.23778E-6
13-37569653-G-C p.Ala49Ala synonymous ALG5 1 83310 1.20034E-5 41655 0 8.2375E-6
13-37569656-A-G p.Asn48Asn synonymous ALG5 2 83314 2.40056E-5 41657 0 NA
13-37569663-A-G p.Phe46Ser missense ALG5 1 83318 1.20022E-5 41659 0 NA
13-37569670-T-C p.Lys44Glu missense ALG5 2 83302 2.4009E-5 41651 0 0.001875
13-37569679-C-T p.Glu41Lys missense ALG5 2 83316 2.4005E-5 41658 0 6.36902E-5
13-37569684-C-T p.Arg39Gln missense ALG5 1 83306 1.20039E-5 41653 0 3.18532E-5
13-37569687-T-A p.His38Leu missense ALG5 2 83300 2.40096E-5 41650 0 NA
13-37569687-T-C p.His38Arg missense ALG5 2 83302 2.4009E-5 41651 0 8.23927E-6
13-37569694-C-T p.Ala36Thr missense ALG5 1 83282 1.20074E-5 41641 0 8.24049E-6
13-37569706-T-A p.Thr32Ser missense ALG5 1 83258 1.20109E-5 41629 0 3.73332E-5
13-37569706-T-C p.Thr32Ala missense ALG5 2 83258 2.40217E-5 41629 0 9.5511E-5
13-37569712-T-C p.Thr30Ala missense ALG5 1 83230 1.20149E-5 41615 0 2.51343E-5
13-37569724-C-T p.Val26Ile missense ALG5 1 83144 1.20273E-5 41572 0 3.30923E-5
13-37569727-T-C p.Ile25Val missense ALG5 1 83134 1.20288E-5 41567 0 NA
13-37569731-A-T p.Ile23Ile splice_region+synonymous ALG5 2 83118 2.40622E-5 41559 1 8.29779E-5
13-37569734-C-CAG c.67-2_67-1insCT splice_acceptor ALG5 5 83076 6.01859E-5 41538 2 NA
13-37573382-G-C p.Ala19Gly missense ALG5 4 71894 5.56375E-5 35947 0 3.45693E-4
13-37573384-T-G p.Ala18Ala synonymous ALG5 50 71874 6.95662E-4 35937 1 0.00159388
13-37573384-T-C p.Ala18Ala synonymous ALG5 1 71876 1.39128E-5 35938 0 3.18776E-5
13-37573385-G-A p.Ala18Val missense ALG5 1 71990 1.38908E-5 35995 0 5.46478E-5
13-37573393-C-T p.Leu15Leu synonymous ALG5 11 72406 1.51921E-4 36203 0 0.00112606
13-37573396-C-A p.Ala14Ala synonymous ALG5 1 72332 1.38251E-5 36166 0 4.82612E-6
13-37573398-C-A p.Ala14Ser missense ALG5 2 72538 2.75718E-5 36269 0 1.81492E-5
13-37573399-C-G p.Ala13Ala synonymous ALG5 1 72444 1.38038E-5 36222 0 NA
13-37573400-GC-AG p.Ala13Leu missense ALG5 1 72396 1.38129E-5 36198 0 NA
13-37573402-G-A p.Gly12Gly synonymous ALG5 56 72470 7.72734E-4 36235 0 0.0013717
13-37573404-C-G p.Gly12Arg missense ALG5 1 72558 1.37821E-5 36279 0 NA
13-37573407-GC-CA p.ValLeu10ValVal missense ALG5 34 72802 4.6702E-4 36401 0 NA
13-37573407-G-C p.Leu11Val missense ALG5 5 72808 6.86738E-5 36404 0 0.00106248
13-37573408-C-A p.Val10Val synonymous ALG5 5 72892 6.85946E-5 36446 0 0.00107012
13-37573408-C-G p.Val10Val synonymous ALG5 1 72894 1.37185E-5 36447 0 9.62084E-6
13-37573426-A-C p.Leu4Leu synonymous ALG5 5 72878 6.86078E-5 36439 0 7.2515E-5
13-37573429-C-T p.Pro3Pro synonymous ALG5 2 72458 2.76022E-5 36229 0 6.25782E-4
13-37573430-G-A p.Pro3Leu missense ALG5 1 72342 1.38232E-5 36171 0 0.00202429
13-37573434-C-T p.Ala2Thr missense ALG5 2 71932 2.7804E-5 35966 0 9.11926E-6
13-37573434-C-G p.Ala2Pro missense ALG5 1 71930 1.39024E-5 35965 0 NA
13-37573436-A-AT p.Met1fs frameshift ALG5 1 71596 1.39673E-5 35798 0 NA
13-37573444-T-G c.-7A>C 5_prime_UTR_premature_start_codon_gain ALG5 1 70314 1.42219E-5 35157 0 3.19101E-5
13-37573479-C-T c.-42G>A 5_prime_UTR_premature_start_codon_gain ALG5 1 62606 1.59729E-5 31303 0 1.04923E-5