Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-58858218-C-T c.*170G>A splice_region A1BG 422 71354 0.00591417 35677 1 0.0117385
19-58858728-G-A p.Leu491Leu synonymous A1BG 2 79694 2.5096E-5 39847 0 6.37146E-5
19-58858736-A-T p.Val488Glu missense A1BG 3 79728 3.76279E-5 39864 0 NA
19-58858753-C-G p.Ser482Ser synonymous A1BG 18 79528 2.26335E-4 39764 0 5.09846E-4
19-58858758-C-G p.Glu481Gln missense A1BG 1 79510 1.2577E-5 39755 0 NA
19-58858767-G-A p.His478Tyr missense A1BG 1 79458 1.25853E-5 39729 0 NA
19-58858779-A-T p.Ser474Thr missense A1BG 3 79406 3.77805E-5 39703 0 NA
19-58858782-G-C p.Arg473Gly missense A1BG 2 79390 2.51921E-5 39695 0 8.93943E-6
19-58858787-C-T p.Arg471His missense A1BG 1 79340 1.2604E-5 39670 0 8.97167E-6
19-58858788-G-C p.Arg471Gly missense A1BG 1 79326 1.26062E-5 39663 0 NA
19-58858794-T-A p.Arg469Trp missense A1BG 1 79322 1.26068E-5 39661 0 NA
19-58858799-T-G p.Asn467Thr missense A1BG 1 79342 1.26037E-5 39671 0 NA
19-58858799-T-C p.Asn467Ser missense A1BG 1 79342 1.26037E-5 39671 0 NA
19-58858800-T-C p.Asn467Asp missense A1BG 1 79312 1.26084E-5 39656 0 NA
19-58858814-G-A p.Pro462Leu missense A1BG 1 79376 1.25983E-5 39688 0 NA
19-58858823-A-C p.Phe459Cys missense A1BG 2 79390 2.51921E-5 39695 0 NA
19-58858824-A-C p.Phe459Val missense A1BG 1 79434 1.25891E-5 39717 0 2.77989E-5
19-58858829-A-T p.Leu457Gln missense A1BG 2 79436 2.51775E-5 39718 0 NA
19-58858832-T-C p.Glu456Gly missense A1BG 1 79346 1.2603E-5 39673 0 NA
19-58858833-C-T p.Glu456Lys missense A1BG 39 79354 4.91469E-4 39677 0 7.62938E-5
19-58858843-C-T p.Ala452Ala synonymous A1BG 1 79236 1.26205E-5 39618 0 1.91289E-5
19-58858850-C-G p.Gly450Ala missense A1BG 1 79342 1.26037E-5 39671 0 9.71402E-6
19-58858852-G-T p.Pro449Pro synonymous A1BG 1 79262 1.26164E-5 39631 0 NA
19-58858853-G-A p.Pro449Leu missense A1BG 6 79272 7.56888E-5 39636 0 6.40675E-5
19-58858876-C-G p.Lys441Asn missense A1BG 3 78366 3.82819E-5 39183 0 1.27502E-4
19-58858881-T-A p.Thr440Ser missense A1BG 2 77956 2.56555E-5 38978 0 NA
19-58858888-C-T p.Glu437Glu synonymous A1BG 1 77492 1.29046E-5 38746 0 1.13366E-5
19-58858892-C-A p.Arg436Leu missense A1BG 1 76970 1.29921E-5 38485 0 NA
19-58858893-G-T p.Arg436Ser missense A1BG 1 76980 1.29904E-5 38490 0 NA
19-58858895-A-G p.Leu435Pro missense A1BG 1 76890 1.30056E-5 38445 0 NA
19-58858903-G-C p.Phe432Leu missense A1BG 1 75914 1.31728E-5 37957 0 3.18939E-5
19-58858914-C-T p.Asp429Asn missense A1BG 1 73458 1.36132E-5 36729 0 5.06714E-6
19-58858915-G-C p.Pro428Pro synonymous A1BG 1 73372 1.36292E-5 36686 0 3.18878E-5
19-58858942-G-T p.Ala419Ala synonymous A1BG 4 63584 6.29089E-5 31792 0 1.59653E-4
19-58858942-G-C p.Ala419Ala synonymous A1BG 1 63584 1.57272E-5 31792 0 NA
19-58858958-A-G p.Leu414Pro missense A1BG 1 56762 1.76174E-5 28381 0 1.66187E-4
19-58858960-G-A p.Val413Val synonymous A1BG 4 55940 7.15052E-5 27970 0 5.94884E-5
19-58858964-G-T p.Ala412Glu missense A1BG 2 53898 3.71071E-5 26949 0 6.82967E-5
19-58858965-C-T p.Ala412Thr missense A1BG 1 53888 1.8557E-5 26944 0 NA
19-58858967-C-T p.Gly411Glu missense A1BG 2 53574 3.73315E-5 26787 0 2.22816E-4
19-58858970-C-T p.Ser410Asn missense A1BG 1 52670 1.89861E-5 26335 0 6.38733E-5
19-58858971-T-C p.Ser410Gly missense A1BG 2 52286 3.82512E-5 26143 0 1.07239E-5
19-58858986-G-A p.Leu405Phe missense A1BG 1 48306 2.07014E-5 24153 0 NA
19-58859004-G-T p.Pro399Thr missense+splice_region A1BG 1 43928 2.27645E-5 21964 0 NA
19-58859012-C-A c.1193-6G>T splice_region A1BG 1 41380 2.41663E-5 20690 0 NA
19-58861737-G-A p.Asp397Asp splice_region+synonymous A1BG 1 43018 2.32461E-5 21509 0 7.16661E-6
19-58861741-A-G p.Val396Ala missense A1BG 1 43238 2.31278E-5 21619 0 NA
19-58861744-T-C p.His395Arg missense A1BG 363 43372 0.00836946 21686 6 0.0204816
19-58861753-AAGCGCTCGCTGGGCGCGG-A p.Ser386_Arg391del disruptive_inframe_deletion A1BG 1 43864 2.27977E-5 21932 0 3.18552E-5
19-58861756-C-G p.Arg391Pro missense A1BG 2 43948 4.55083E-5 21974 0 NA
19-58861760-C-T p.Glu390Lys missense A1BG 4 44184 9.05305E-5 22092 0 0.001875
19-58861768-G-A p.Ala387Val missense A1BG 1 44502 2.24709E-5 22251 0 6.37105E-5
19-58861769-C-T p.Ala387Thr missense A1BG 2 44538 4.49055E-5 22269 0 2.04332E-4
19-58861770-G-T p.Ser386Ser synonymous A1BG 1 44640 2.24014E-5 22320 0 NA
19-58861776-C-T p.Gly384Gly synonymous A1BG 1 45046 2.21995E-5 22523 0 6.85016E-6
19-58861780-A-G p.Phe383Ser missense A1BG 2 45142 4.43046E-5 22571 0 NA
19-58861782-A-T p.Pro382Pro synonymous A1BG 1 45246 2.21014E-5 22623 0 6.25E-4
19-58861794-G-T p.Asp378Glu missense A1BG 5 46272 1.08057E-4 23136 0 1.27372E-4
19-58861799-C-T p.Val377Met missense A1BG 1 46706 2.14105E-5 23353 0 6.70385E-6
19-58861805-C-T p.Val375Ile missense A1BG 1 47306 2.1139E-5 23653 0 2.00083E-5
19-58861807-C-T p.Cys374Tyr missense A1BG 1 47438 2.10801E-5 23719 0 NA
19-58861808-A-G p.Cys374Arg missense A1BG 281 47480 0.00591828 23740 1 0.00608474
19-58861821-G-A p.Ser369Ser synonymous A1BG 162 48276 0.0033557 24138 1 0.00240441
19-58861824-G-A p.Asp368Asp synonymous A1BG 1 48532 2.0605E-5 24266 0 1.16754E-4
19-58861827-A-G p.Ala367Ala synonymous A1BG 2 48646 4.11133E-5 24323 0 6.4331E-6
19-58861827-A-C p.Ala367Ala synonymous A1BG 1 48646 2.05567E-5 24323 0 NA
19-58861833-G-A p.Ser365Ser synonymous A1BG 3 48836 6.14301E-5 24418 0 2.22987E-4
19-58861837-ATGT-A p.Asn363del disruptive_inframe_deletion A1BG 2 48964 4.08463E-5 24482 0 1.15168E-4
19-58861838-T-C p.Ile364Val missense A1BG 19 49010 3.87676E-4 24505 0 0.00156576
19-58861859-C-T p.Ala357Thr missense A1BG 2 48936 4.08697E-5 24468 0 1.91131E-4
19-58861862-C-T p.Glu356Lys missense A1BG 1 48890 2.04541E-5 24445 0 2.61869E-5
19-58861863-G-A p.Thr355Thr synonymous A1BG 5 48912 1.02224E-4 24456 0 1.17592E-4
19-58861892-C-G p.Val346Leu missense A1BG 2 47966 4.16962E-5 23983 0 3.47126E-5
19-58861892-C-T p.Val346Met missense A1BG 1 47966 2.08481E-5 23983 0 NA
19-58861893-G-A p.Arg345Arg synonymous A1BG 3 47732 6.28509E-5 23866 0 3.18735E-5
19-58861908-G-C p.Asp340Glu missense A1BG 3 47180 6.35863E-5 23590 0 NA
19-58861915-C-T p.Arg338His missense A1BG 1 46412 2.15462E-5 23206 0 7.15144E-6
19-58861925-C-T p.Ala335Thr missense A1BG 1 45562 2.19481E-5 22781 0 3.1902E-5
19-58861931-G-A p.Arg333Cys missense A1BG 1 44908 2.22677E-5 22454 0 NA
19-58861935-G-A p.Gly331Gly synonymous A1BG 3 44320 6.76895E-5 22160 0 1.49849E-5
19-58861937-C-A p.Gly331Cys missense A1BG 1 44380 2.25327E-5 22190 0 4.86989E-5
19-58861941-C-T p.Leu329Leu synonymous A1BG 1 44326 2.25601E-5 22163 0 NA
19-58861945-G-A p.Pro328Leu missense A1BG 1 44074 2.26891E-5 22037 0 NA
19-58861946-G-A p.Pro328Ser missense A1BG 1 43948 2.27542E-5 21974 0 NA
19-58861959-C-G p.Leu323Leu synonymous A1BG 2 43436 4.60448E-5 21718 0 1.01286E-5
19-58861977-G-A p.Ser317Ser synonymous A1BG 1 42688 2.34258E-5 21344 0 NA
19-58861985-G-A p.Pro315Ser missense A1BG 1 42126 2.37383E-5 21063 0 0.00136054
19-58861990-G-A p.Pro313Leu missense A1BG 4 41970 9.53062E-5 20985 0 3.18878E-5
19-58862001-C-T p.Pro309Pro synonymous A1BG 1 41452 2.41243E-5 20726 0 3.18796E-5
19-58862002-GGC-G p.Pro309fs frameshift A1BG 1 41358 2.41791E-5 20679 0 NA
19-58862005-G-A p.Ala308Val missense A1BG 1 41084 2.43404E-5 20542 0 3.18918E-5
19-58862005-G-T p.Ala308Glu missense A1BG 1 41084 2.43404E-5 20542 0 3.12695E-4
19-58862007-G-A p.Pro307Pro synonymous A1BG 1 40992 2.4395E-5 20496 0 NA
19-58862023-G-A c.911-6C>T splice_region A1BG 40 40350 9.91326E-4 20175 0 0.00260594
19-58862749-C-T c.910+8G>A splice_region A1BG 2 66100 3.02572E-5 33050 0 6.28141E-4
19-58862751-G-A c.910+6C>T splice_region A1BG 3 66710 4.49708E-5 33355 0 1.65086E-5
19-58862753-T-C c.910+4A>G splice_region A1BG 1 67394 1.48381E-5 33697 0 3.1904E-5
19-58862758-A-G p.Asp303Asp splice_region+synonymous A1BG 7 68238 1.02582E-4 34119 0 2.55265E-4
19-58862763-T-C p.Ser302Gly missense A1BG 1 69470 1.43947E-5 34735 0 NA
19-58862777-A-C p.Val297Gly missense A1BG 4 72382 5.52624E-5 36191 0 3.19203E-5
19-58862779-C-T p.Pro296Pro synonymous A1BG 6 73032 8.21558E-5 36516 0 6.37755E-5
19-58862780-G-A p.Pro296Leu missense A1BG 3 73168 4.10015E-5 36584 0 1.09051E-4
19-58862783-G-A p.Ala295Val missense A1BG 23 73696 3.12093E-4 36848 0 6.37959E-4
19-58862785-G-A p.Ser294Ser synonymous A1BG 1 74290 1.34608E-5 37145 0 1.21641E-5
19-58862790-C-T p.Asp293Asn missense A1BG 1 75876 1.31794E-5 37938 0 3.18735E-5
19-58862793-C-T p.Gly292Arg missense A1BG 1 76212 1.31213E-5 38106 0 5.04032E-4
19-58862794-G-A p.Ser291Ser synonymous A1BG 2 76254 2.62281E-5 38127 0 8.34516E-6
19-58862802-C-T p.Gly289Ser missense A1BG 1 77966 1.28261E-5 38983 0 2.49306E-5
19-58862803-G-A p.Asn288Asn synonymous A1BG 2 78134 2.55971E-5 39067 0 4.02414E-6
19-58862806-T-C p.Gln287Gln synonymous A1BG 5 78670 6.35566E-5 39335 0 9.64739E-5
19-58862816-T-C p.His284Arg missense A1BG 1 79702 1.25467E-5 39851 0 NA
19-58862822-C-T p.Arg282Gln missense A1BG 1 80056 1.24913E-5 40028 0 4.1436E-5
19-58862828-C-T p.Arg280His missense A1BG 1 80430 1.24332E-5 40215 0 3.18837E-5
19-58862834-G-T p.Thr278Asn missense A1BG 8 80670 9.91695E-5 40335 0 3.6106E-5
19-58862835-T-G p.Thr278Pro missense A1BG 6 77124 7.77968E-5 38562 0 0.156093
19-58862837-T-G p.Tyr277Ser missense A1BG 1 79270 1.26151E-5 39635 0 0.00553877
19-58862838-A-G p.Tyr277His missense A1BG 1 79282 1.26132E-5 39641 0 7.31894E-4
19-58862839-G-C p.His276Gln missense A1BG 2 79628 2.51168E-5 39814 0 NA
19-58862852-C-T p.Gly272Glu missense A1BG 2 80920 2.47158E-5 40460 0 NA
19-58862863-C-T p.Ala268Ala synonymous A1BG 2 81488 2.45435E-5 40744 0 5.03525E-4
19-58862864-G-A p.Ala268Val missense A1BG 11 81476 1.35009E-4 40738 0 6.25E-4
19-58862865-C-T p.Ala268Thr missense A1BG 2 81596 2.4511E-5 40798 0 3.31131E-5
19-58862866-G-A p.Asn267Asn synonymous A1BG 1 81754 1.22318E-5 40877 0 6.37267E-5
19-58862874-G-A p.His265Tyr missense A1BG 2 82216 2.43262E-5 41108 0 5.03525E-4
19-58862875-A-G p.Phe264Phe synonymous A1BG 21 82232 2.55375E-4 41116 0 0.00151057
19-58862885-C-T p.Arg261His missense A1BG 3 82464 3.63795E-5 41232 0 3.18837E-5
19-58862886-G-A p.Arg261Cys missense A1BG 6 82508 7.27202E-5 41254 0 5.03525E-4
19-58862888-TC-GT p.Asp260Thr missense A1BG 2 82540 2.42307E-5 41270 0 NA
19-58862894-C-G p.Ser258Thr missense A1BG 3 82558 3.63381E-5 41279 0 1.19478E-5
19-58862894-C-T p.Ser258Asn missense A1BG 1 82558 1.21127E-5 41279 0 NA
19-58862903-C-T p.Ser255Asn missense A1BG 1 82626 1.21027E-5 41313 0 8.27746E-6
19-58862906-CT-C p.Arg254fs frameshift A1BG 41 82604 4.96344E-4 41302 0 2.78722E-4
19-58862907-T-C p.Arg254Gly missense A1BG 3 82598 3.63205E-5 41299 0 NA
19-58862915-AG-A p.Leu251fs frameshift A1BG 5 82574 6.05517E-5 41287 0 2.78725E-5
19-58862917-C-G p.Leu250Leu synonymous A1BG 3 82548 3.63425E-5 41274 0 3.98178E-5
19-58862919-G-A p.Leu250Leu synonymous A1BG 2 82554 2.42266E-5 41277 0 8.28748E-6
19-58862929-C-T p.Gly246Gly synonymous A1BG 1 82444 1.21294E-5 41222 0 NA
19-58862931-C-T p.Gly246Arg missense A1BG 10 82362 1.21415E-4 41181 0 1.43402E-4
19-58862932-G-A p.Arg245Arg synonymous A1BG 2 82304 2.43002E-5 41152 0 3.18878E-5
19-58862933-C-T p.Arg245His missense A1BG 2 82260 2.43132E-5 41130 0 7.96565E-6
19-58862936-C-G p.Arg244Pro missense A1BG 1 82196 1.2166E-5 41098 0 3.32973E-5
19-58862937-G-A p.Arg244Trp missense A1BG 4 82182 4.86725E-5 41091 0 0.0014036
19-58862949-C-T p.Asp240Asn missense A1BG 1 81824 1.22214E-5 40912 0 3.1904E-5
19-58862950-C-A p.Val239Val synonymous A1BG 1 81816 1.22225E-5 40908 0 NA
19-58862970-C-T p.Val233Met missense A1BG 1 80476 1.24261E-5 40238 0 3.99776E-6
19-58862975-G-A p.Thr231Ile missense A1BG 2 79910 2.50282E-5 39955 0 8.88099E-6
19-58862992-G-A p.Gly225Gly synonymous A1BG 1 76604 1.30541E-5 38302 0 3.19305E-5
19-58863011-G-C p.Ser219Cys missense A1BG 2 71390 2.80151E-5 35695 0 1.18917E-5
19-58863040-C-T p.Pro209Pro synonymous A1BG 1 61714 1.62038E-5 30857 0 1.92585E-5
19-58863041-G-A p.Pro209Leu missense A1BG 3 61134 4.90725E-5 30567 0 7.40905E-5
19-58863046-TG-T p.Pro207fs frameshift A1BG 2 59820 3.34336E-5 29910 0 NA
19-58863050-G-A p.Ala206Val missense A1BG 1 58602 1.70643E-5 29301 0 NA
19-58863456-G-A c.562+8C>T splice_region A1BG 3 36064 8.31854E-5 18032 0 1.46662E-4
19-58863459-CT-C c.562+4delA splice_region A1BG 472 36126 0.0130654 18063 30 0.0296426
19-58863484-C-A p.Arg181Met missense A1BG 1 36436 2.74454E-5 18218 0 NA
19-58863486-C-G p.Gln180His missense A1BG 1 36430 2.74499E-5 18215 0 6.48424E-5
19-58863506-C-A p.Val174Phe missense A1BG 1 36988 2.70358E-5 18494 0 NA
19-58863524-C-T p.Gly168Ser missense A1BG 1 37872 2.64047E-5 18936 0 5.0939E-5
19-58863525-G-A p.His167His synonymous A1BG 7 37928 1.8456E-4 18964 0 1.91278E-4
19-58863545-C-T p.Gly161Ser missense A1BG 1 39538 2.52921E-5 19769 0 NA
19-58863555-G-A c.476-5C>T splice_region A1BG 1 40484 2.47011E-5 20242 0 5.15209E-6
19-58863649-C-T p.Ala205Thr missense+splice_region A1BG 9 71632 1.25642E-4 35816 0 6.3743E-5
19-58863650-G-A p.Leu204Leu splice_region+synonymous A1BG 2 71732 2.78816E-5 35866 0 8.00878E-6
19-58863673-C-T p.Ala197Thr missense A1BG 23 77012 2.98655E-4 38506 0 0.0025
19-58863674-G-T p.Ser196Arg missense A1BG 11 77336 1.42236E-4 38668 0 1.07575E-4
19-58863677-G-A p.Pro195Pro synonymous A1BG 1 78208 1.27864E-5 39104 0 NA
19-58863687-AG-A p.Leu192fs frameshift A1BG 1 79464 1.25843E-5 39732 0 3.9873E-6
19-58863687-A-G p.Leu192Pro missense A1BG 2 79464 2.51686E-5 39732 0 NA
19-58863692-G-A p.Gly190Gly synonymous A1BG 2 80172 2.49464E-5 40086 0 1.65166E-5
19-58863697-C-G p.Glu189Gln missense A1BG 1 80784 1.23787E-5 40392 0 1.65079E-5
19-58863709-G-A p.Arg185Trp missense A1BG 2 81660 2.44918E-5 40830 0 7.42366E-5
19-58863730-C-T p.Gly178Ser missense A1BG 1 82292 1.21518E-5 41146 0 NA
19-58863732-G-T p.Pro177His missense A1BG 1 82348 1.21436E-5 41174 0 NA
19-58863734-C-G p.Gln176His missense A1BG 2 82378 2.42783E-5 41189 0 9.56206E-5
19-58863747-A-G p.Phe172Ser missense A1BG 9 82560 1.09012E-4 41280 0 NA
19-58863753-G-A p.Ala170Val missense A1BG 189 82492 0.00229113 41246 1 0.00569948
19-58863758-C-T p.Val168Val synonymous A1BG 1 82572 1.21106E-5 41286 0 NA
19-58863763-C-T p.Asp167Asn missense A1BG 1 82616 1.21042E-5 41308 0 3.18776E-5
19-58863772-C-T p.Ala164Thr missense A1BG 1 82634 1.21016E-5 41317 0 NA
19-58863773-C-G p.Glu163Asp missense A1BG 2 82640 2.42014E-5 41320 0 1.64965E-5
19-58863775-C-G p.Glu163Gln missense A1BG 4 82648 4.8398E-5 41324 0 NA
19-58863799-C-T p.Asp155Asn missense A1BG 1 82394 1.21368E-5 41197 0 NA
19-58863804-T-C p.Glu153Gly missense A1BG 1 82320 1.21477E-5 41160 0 1.65175E-5
19-58863806-C-T p.Arg152Arg synonymous A1BG 2 82524 2.42354E-5 41262 0 NA
19-58863807-C-T p.Arg152Gln missense A1BG 2 82534 2.42324E-5 41267 0 1.99594E-5
19-58863808-G-A p.Arg152Trp missense A1BG 3 82512 3.63583E-5 41256 0 1.19761E-5
19-58863821-A-G p.Thr147Thr synonymous A1BG 9 82440 1.0917E-4 41220 0 9.57121E-5
19-58863822-G-C p.Thr147Ser missense A1BG 1 82410 1.21345E-5 41205 0 3.18756E-5
19-58863831-C-T p.Arg144Gln missense A1BG 5 82204 6.08243E-5 41102 0 4.13688E-5
19-58863832-G-A p.Arg144Trp missense A1BG 4 82160 4.86855E-5 41080 0 2.48254E-5
19-58863843-C-T p.Arg140Gln missense A1BG 25 81876 3.0534E-4 40938 0 2.48814E-4
19-58863857-T-C p.Thr135Thr synonymous A1BG 1 81334 1.2295E-5 40667 0 8.31767E-6
19-58863860-T-C p.Lys134Lys synonymous A1BG 3 81184 3.69531E-5 40592 0 5.82935E-5
19-58863865-G-C p.Leu133Val missense A1BG 1 80902 1.23606E-5 40451 0 3.99284E-6
19-58863868-C-T p.Gly132Ser missense A1BG 5 80514 6.2101E-5 40257 0 5.03525E-4
19-58863869-G-A p.Pro131Pro synonymous A1BG 13 80486 1.61519E-4 40243 0 4.14356E-4
19-58863870-G-T p.Pro131His missense A1BG 2 80460 2.48571E-5 40230 0 3.18593E-5
19-58863880-A-G p.Trp128Arg missense A1BG 1 79900 1.25156E-5 39950 0 4.00282E-6
19-58863885-A-G p.Val126Ala missense A1BG 1 79526 1.25745E-5 39763 0 NA
19-58863887-T-A p.Pro125Pro synonymous A1BG 1 79332 1.26053E-5 39666 0 NA
19-58863894-A-AT p.Met123fs frameshift A1BG 2 78804 2.53794E-5 39402 0 1.69411E-5
19-58863897-G-A p.Ser122Leu missense A1BG 2 78308 2.55402E-5 39154 0 2.54924E-5
19-58863906-G-C p.Pro119Arg missense A1BG 2 77446 2.58244E-5 38723 0 NA
19-58863914-C-T p.Leu116Leu synonymous A1BG 1 76252 1.31144E-5 38126 0 NA
19-58863917-G-A p.Ser115Ser synonymous A1BG 1 75960 1.31648E-5 37980 0 NA
19-58863920-C-T p.Lys114Lys splice_region+synonymous A1BG 10 75310 1.32784E-4 37655 0 6.25E-4
19-58863921-T-C p.Lys114Arg missense+splice_region A1BG 1 75172 1.33028E-5 37586 0 NA
19-58863922-C-G c.341-1G>C splice_acceptor A1BG 1 75072 1.33205E-5 37536 0 NA
19-58864286-C-T c.340+8G>A splice_region A1BG 2 82124 2.43534E-5 41062 0 3.27667E-5
19-58864287-G-A c.340+7C>T splice_region A1BG 1 82122 1.2177E-5 41061 0 1.22515E-5
19-58864310-C-T p.Leu108Leu synonymous A1BG 4 82372 4.85602E-5 41186 0 3.18532E-5
19-58864315-G-A p.Leu107Phe missense A1BG 1 82358 1.21421E-5 41179 0 3.21934E-5
19-58864347-C-A p.Gly96Val missense A1BG 7 82634 8.47109E-5 41317 0 2.39969E-5
19-58864349-C-T p.Ser95Ser synonymous A1BG 6 82684 7.25654E-5 41342 0 5.03525E-4
19-58864350-G-A p.Ser95Leu missense A1BG 3 82684 3.62827E-5 41342 0 5.03525E-4
19-58864351-A-G p.Ser95Pro missense A1BG 1 82710 1.20904E-5 41355 0 8.29531E-6
19-58864353-C-T p.Arg94His missense A1BG 5 82700 6.04595E-5 41350 0 1.65821E-5
19-58864354-G-A p.Arg94Cys missense A1BG 13 82756 1.57088E-4 41378 0 1.32584E-4
19-58864359-C-T p.Arg92His missense A1BG 7 82730 8.46126E-5 41365 0 1.91131E-4
19-58864365-C-T p.Arg90His missense A1BG 3 82832 3.62179E-5 41416 0 7.58853E-5
19-58864366-G-A p.Arg90Cys missense A1BG 7 82852 8.4488E-5 41426 0 2.86752E-4
19-58864370-C-G p.Gln88His missense A1BG 1 82930 1.20584E-5 41465 0 NA
19-58864382-C-T p.Thr84Thr synonymous A1BG 6 83050 7.22456E-5 41525 0 1.15521E-4
19-58864384-T-C p.Thr84Ala missense A1BG 1 83054 1.20404E-5 41527 0 8.25014E-6
19-58864386-A-T p.Leu83Gln missense A1BG 5 83092 6.01743E-5 41546 0 6.37349E-5
19-58864394-C-G p.Gln80His missense A1BG 1 83136 1.20285E-5 41568 0 NA
19-58864400-C-T p.Lys78Lys synonymous A1BG 1 83128 1.20296E-5 41564 0 3.18634E-5
19-58864411-G-C p.Pro75Ala missense A1BG 1 83154 1.20259E-5 41577 0 3.18573E-5
19-58864412-T-C p.Ser74Ser synonymous A1BG 1 83120 1.20308E-5 41560 0 NA
19-58864413-G-A p.Ser74Leu missense A1BG 1 83140 1.20279E-5 41570 0 8.24498E-6
19-58864425-A-T p.Val70Glu missense A1BG 4 83134 4.81151E-5 41567 0 2.47292E-5
19-58864458-T-G p.Gln59Pro missense A1BG 3 83150 3.60794E-5 41575 0 NA
19-58864460-G-A p.Phe58Phe synonymous A1BG 1 83128 1.20296E-5 41564 0 NA
19-58864474-C-T p.Glu54Lys missense A1BG 2 83110 2.40645E-5 41555 0 NA
19-58864475-C-T p.Leu53Leu synonymous A1BG 1 83122 1.20305E-5 41561 0 8.24144E-6
19-58864476-A-G p.Leu53Pro missense A1BG 46 83118 5.5343E-4 41559 1 0.00805639
19-58864479-T-C p.His52Arg missense A1BG 74721 82036 0.910832 41018 34215 0.904637
19-58864480-G-A p.His52Tyr missense A1BG 5 83088 6.01772E-5 41544 0 6.25E-4
19-58864482-G-C p.Ala51Gly missense A1BG 1 83084 1.2036E-5 41542 0 3.29587E-5
19-58864484-C-T p.Gln50Gln synonymous A1BG 3 83082 3.61089E-5 41541 0 1.64796E-5
19-58864490-C-T p.Thr48Thr synonymous A1BG 7 83080 8.42561E-5 41540 0 9.55962E-5
19-58864491-G-A p.Thr48Met missense A1BG 3 83080 3.61098E-5 41540 0 2.23157E-4
19-58864496-C-T p.Thr46Thr synonymous A1BG 3 83080 3.61098E-5 41540 0 2.38658E-5
19-58864497-G-A p.Thr46Met missense A1BG 3 83086 3.61072E-5 41543 0 2.47223E-5
19-58864505-G-A p.Ala43Ala synonymous A1BG 6 83116 7.21883E-5 41558 0 9.56023E-5
19-58864528-C-T p.Glu36Lys missense A1BG 2 83138 2.40564E-5 41569 0 3.18776E-5
19-58864533-T-C p.Glu34Gly missense A1BG 2 83134 2.40575E-5 41567 0 8.24674E-6
19-58864535-T-C p.Ala33Ala synonymous A1BG 2 83146 2.40541E-5 41573 0 2.38732E-5
19-58864546-T-C p.Ser30Gly missense A1BG 3 83128 3.60889E-5 41564 0 3.19E-5
19-58864553-C-T p.Thr27Thr synonymous A1BG 6 83114 7.219E-5 41557 0 3.18979E-5
19-58864554-G-A p.Thr27Met missense A1BG 2 83120 2.40616E-5 41560 0 4.95131E-5
19-58864559-A-G p.Tyr25Tyr synonymous A1BG 3 83118 3.60933E-5 41559 0 3.98359E-6
19-58864566-G-C c.71-3C>G splice_region A1BG 1 83108 1.20325E-5 41554 0 NA
19-58864569-A-G c.71-6T>C splice_region A1BG 1 83102 1.20334E-5 41551 0 NA
19-58864570-G-A c.71-7C>T splice_region A1BG 1 83110 1.20322E-5 41555 0 NA
19-58864657-C-A c.70+1G>T splice_donor A1BG 4 82906 4.82474E-5 41453 0 1.27681E-4
19-58864659-TATG-T p.Ile23del disruptive_inframe_deletion A1BG 4 82886 4.82591E-5 41443 0 1.27755E-4
19-58864661-T-C p.Ile23Val missense A1BG 3 82878 3.61978E-5 41439 0 1.27755E-4
19-58864666-G-A p.Ala21Val missense A1BG 1 82832 1.20726E-5 41416 0 NA
19-58864668-T-C p.Glu20Glu synonymous A1BG 1 82818 1.20747E-5 41409 0 NA
19-58864689-G-A p.Val13Val synonymous A1BG 1 82670 1.20963E-5 41335 0 NA
19-58864698-G-A c.35-5C>T splice_region A1BG 8 82614 9.68359E-5 41307 0 9.57243E-5
19-58864701-G-C c.35-8C>G splice_region A1BG 1 82620 1.21036E-5 41310 0 NA
19-58864766-T-C c.34+4A>G splice_region A1BG 4 82346 4.85755E-5 41173 0 3.6613E-5
19-58864776-G-A p.Leu10Leu synonymous A1BG 18 82344 2.18595E-4 41172 0 7.18789E-5
19-58864782-G-T p.Leu8Ile missense A1BG 1 82322 1.21474E-5 41161 0 1.04662E-5
19-58864791-C-T p.Val5Met missense A1BG 3 82222 3.64866E-5 41111 0 1.22363E-5
19-58864801-C-T p.Met1? start_lost A1BG 1 82096 1.21809E-5 41048 0 3.18735E-5
19-58864801-CATG-C p.Met1del start_lost A1BG 5 82096 6.09043E-5 41048 0 6.37471E-5
19-58864802-A-G p.Met1? start_lost A1BG 1 82098 1.21806E-5 41049 0 4.11252E-6
19-58864822-G-A c.-19C>T 5_prime_UTR_premature_start_codon_gain A1BG 5 81596 6.12775E-5 40798 0 9.56206E-5
19-58864847-G-A c.-44C>T 5_prime_UTR_premature_start_codon_gain A1BG 39 80820 4.82554E-4 40410 0 3.39536E-4