Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-101494794-T-C p.Lys583Glu missense ANKS6 1 79566 1.25682E-5 39783 0 NA
9-101494795-G-A p.Gly582Gly synonymous ANKS6 3 79576 3.76998E-5 39788 0 5.73175E-4
9-101494797-C-T p.Gly582Ser missense ANKS6 38 79576 4.77531E-4 39788 0 0.00123144
9-101494798-G-A p.Ser581Ser synonymous ANKS6 7 79578 8.7964E-5 39789 0 2.76702E-4
9-101494825-C-CCCAA p.Arg575fs frameshift ANKS6 1 79602 1.25625E-5 39801 0 NA
9-101494829-A-C p.Val571Gly missense ANKS6 1 79600 1.25628E-5 39800 0 NA
9-101494829-A-T p.Val571Asp missense ANKS6 1 79600 1.25628E-5 39800 0 NA
9-101494833-T-C p.Met570Val missense+splice_region ANKS6 467 79590 0.00586757 39795 12 0.0118517
9-101494839-C-T c.1706-4G>A splice_region ANKS6 1 79584 1.25653E-5 39792 0 3.18471E-5
9-101494840-G-A c.1706-5C>T splice_region ANKS6 5 79576 6.2833E-5 39788 0 6.69219E-6
9-101498276-A-G c.*517+8T>C splice_region ANKS6 2 27298 7.32654E-5 13649 0 NA
9-101498277-TAC-T c.*517+5_*517+6delGT splice_region ANKS6 2 27296 7.32708E-5 13648 0 NA
9-101498286-C-A c.*515G>T splice_region ANKS6 1 27278 3.66596E-5 13639 0 NA
9-101498758-CCGGGATTCAGAGAGCTCA-C c.*23+2_*23+19delTGAGCTCTCTGAATCCCG splice_donor ANKS6 1 81600 1.22549E-5 40800 0 NA
9-101498770-G-A c.*23+8C>T splice_region ANKS6 1 81822 1.22217E-5 40911 0 3.1841E-5
9-101498777-C-T c.*23+1G>A splice_donor ANKS6 12 81928 1.4647E-4 40964 0 3.50363E-4
9-101498778-G-A c.*23C>T splice_region ANKS6 3 81962 3.66023E-5 40981 0 NA
9-101498801-T-A p.Ter872Cysext*? stop_lost ANKS6 1 82280 1.21536E-5 41140 0 1.04528E-5
9-101498804-C-T c.1705+5G>A splice_region ANKS6 22 82290 2.67347E-4 41145 0 0.005
9-101498816-G-A p.Asn867Asn synonymous ANKS6 2 82440 2.42601E-5 41220 0 8.1082E-6
9-101498824-G-A p.Pro865Ser missense ANKS6 50 82466 6.0631E-4 41233 0 0.00201613
9-101498834-G-A p.Asn861Asn synonymous ANKS6 2 82514 2.42383E-5 41257 0 9.35471E-6
9-101498853-A-G p.Phe855Ser missense ANKS6 90 82658 0.00108882 41329 0 0.00201613
9-101498861-G-C p.His852Gln missense ANKS6 1 82646 1.20998E-5 41323 0 2.97613E-5
9-101498869-T-A p.Asn850Tyr missense ANKS6 3 82628 3.63073E-5 41314 0 3.18471E-5
9-101498885-T-G p.Leu844Phe missense ANKS6 1 82522 1.2118E-5 41261 0 1.11797E-5
9-101498899-C-T p.Glu840Lys missense ANKS6 1 82376 1.21395E-5 41188 0 3.18451E-5
9-101498900-G-A p.Arg839Arg synonymous ANKS6 3 82334 3.6437E-5 41167 0 5.29353E-5
9-101507835-C-T c.2511+6G>A splice_region ANKS6 5 82786 6.03967E-5 41393 0 8.41515E-5
9-101507836-G-A c.2511+5C>T splice_region ANKS6 1 82794 1.20782E-5 41397 0 1.2423E-4
9-101507849-C-T p.Ala835Thr missense ANKS6 1 83026 1.20444E-5 41513 0 6.37146E-5
9-101507850-G-A p.Asn834Asn synonymous ANKS6 1 83044 1.20418E-5 41522 0 4.96853E-5
9-101507866-G-A p.Ala829Val missense ANKS6 2 83098 2.4068E-5 41549 0 3.18674E-5
9-101507870-C-A p.Ala828Ser missense ANKS6 2 83148 2.40535E-5 41574 0 1.6561E-5
9-101507887-G-C p.Ser822Cys missense ANKS6 1 83192 1.20204E-5 41596 0 NA
9-101507918-A-G p.Leu812Leu synonymous ANKS6 1 83162 1.20247E-5 41581 0 4.0066E-6
9-101507919-G-A p.Asp811Asp synonymous ANKS6 2 83160 2.405E-5 41580 0 8.28102E-6
9-101507925-G-A p.Asp809Asp synonymous ANKS6 3 83102 3.61002E-5 41551 0 5.79701E-5
9-101507943-C-T p.Ala803Ala synonymous ANKS6 12 82986 1.44603E-4 41493 0 4.14039E-4
9-101507951-T-C p.Met801Val missense ANKS6 5 82878 6.03296E-5 41439 0 NA
9-101507962-GGA-G c.2395-7_2395-6delTC splice_region ANKS6 6 82696 7.25549E-5 41348 0 6.37146E-5
9-101513314-T-C p.Gln797Gln synonymous ANKS6 3 82436 3.63919E-5 41218 0 3.18532E-5
9-101513332-C-T p.Gln791Gln synonymous ANKS6 1 82596 1.21071E-5 41298 0 NA
9-101513335-A-G p.Tyr790Tyr synonymous ANKS6 4 82596 4.84285E-5 41298 0 9.55292E-5
9-101513358-T-A p.Lys783* stop_gained ANKS6 1 82560 1.21124E-5 41280 0 NA
9-101513362-G-A p.Ile781Ile synonymous ANKS6 20 82520 2.42365E-4 41260 0 0.0015121
9-101513365-T-C p.Gly780Gly synonymous ANKS6 1 82488 1.2123E-5 41244 0 1.66578E-5
9-101513369-G-C p.Thr779Ser missense ANKS6 1 82416 1.21336E-5 41208 0 3.18593E-5
9-101518712-G-A p.Ile772Ile synonymous ANKS6 1 81706 1.2239E-5 40853 0 NA
9-101518715-G-T p.Thr771Thr synonymous ANKS6 2 81774 2.44577E-5 40887 0 3.18613E-5
9-101518718-G-A p.Gly770Gly synonymous ANKS6 10 81828 1.22208E-4 40914 1 1.97296E-4
9-101518746-G-C p.Ser761Cys missense ANKS6 2 82418 2.42665E-5 41209 0 NA
9-101518757-G-A p.Ser757Ser synonymous ANKS6 16 82576 1.93761E-4 41288 0 2.16292E-4
9-101518758-G-C p.Ser757Cys missense ANKS6 1 82578 1.21098E-5 41289 0 5.82305E-5
9-101518761-G-A p.Ser756Leu missense ANKS6 60 82586 7.26515E-4 41293 0 0.00152284
9-101518763-C-T p.Ser755Ser synonymous ANKS6 18 82592 2.17939E-4 41296 0 0.00152439
9-101518764-G-A p.Ser755Leu missense ANKS6 5 82630 6.05107E-5 41315 0 9.55962E-5
9-101518766-G-A p.Ser754Ser synonymous ANKS6 1 82692 1.20931E-5 41346 0 NA
9-101518786-C-G p.Ala748Pro missense ANKS6 1 82842 1.20712E-5 41421 0 8.11135E-6
9-101518795-C-T p.Gly745Arg missense ANKS6 19 82900 2.29192E-4 41450 0 6.37511E-5
9-101518803-G-A p.Ser742Leu missense ANKS6 11 82888 1.32709E-4 41444 0 0.004375
9-101518805-G-C p.Pro741Pro synonymous ANKS6 1 82904 1.20621E-5 41452 0 3.42067E-5
9-101518806-G-A p.Pro741Leu missense ANKS6 1 82898 1.2063E-5 41449 0 NA
9-101518808-G-A p.Ser740Ser synonymous ANKS6 6 82904 7.23729E-5 41452 0 5.43751E-5
9-101518814-C-T p.Thr738Thr synonymous ANKS6 20 82892 2.41278E-4 41446 0 2.87301E-4
9-101518815-G-A p.Thr738Met missense ANKS6 15 82940 1.80854E-4 41470 0 0.00202429
9-101518816-T-C p.Thr738Ala missense ANKS6 8 82940 9.64553E-5 41470 0 0.00151822
9-101518825-G-C p.Pro735Ala missense ANKS6 368 82982 0.0044347 41491 8 0.00883122
9-101518825-G-A p.Pro735Ser missense ANKS6 2 82990 2.40993E-5 41495 0 3.18817E-5
9-101518827-G-C p.Ser734Cys missense ANKS6 1 82992 1.20494E-5 41496 0 4.51443E-6
9-101518831-T-G p.Thr733Pro missense ANKS6 33 82978 3.97696E-4 41489 0 0.00252781
9-101518831-T-C p.Thr733Ala missense ANKS6 2 82980 2.41022E-5 41490 0 9.07803E-6
9-101518836-T-C p.Lys731Arg missense ANKS6 1 82996 1.20488E-5 41498 0 4.68209E-6
9-101518843-T-C p.Thr729Ala missense ANKS6 1 82980 1.20511E-5 41490 0 NA
9-101518847-G-A p.Ser727Ser synonymous ANKS6 2 82984 2.4101E-5 41492 0 NA
9-101518852-T-C p.Thr726Ala missense ANKS6 1 82950 1.20555E-5 41475 0 NA
9-101518859-T-C p.Pro723Pro synonymous ANKS6 1 82936 1.20575E-5 41468 0 1.1701E-4
9-101518859-T-A p.Pro723Pro synonymous ANKS6 1 82936 1.20575E-5 41468 0 1.0391E-5
9-101518866-C-T p.Arg721Lys missense ANKS6 1 82828 1.20732E-5 41414 0 5.42429E-6
9-101518891-G-A c.2143-6C>T splice_region ANKS6 4 82484 4.84943E-5 41242 0 6.37471E-5
9-101518895-A-G c.2143-7T>C splice_region ANKS6 14 82270 1.70171E-4 41135 0 0.0025
9-101530377-C-T p.Ala710Thr missense ANKS6 1 81174 1.23192E-5 40587 0 4.14776E-6
9-101530378-G-A p.Ser709Ser synonymous ANKS6 9 81336 1.10652E-4 40668 0 0.00125471
9-101530379-C-A p.Ser709Ile missense ANKS6 1 81402 1.22847E-5 40701 0 NA
9-101530392-G-A p.Pro705Ser missense ANKS6 5 81674 6.1219E-5 40837 0 4.13986E-4
9-101530401-G-A p.Pro702Ser missense ANKS6 1 81772 1.22291E-5 40886 0 NA
9-101530411-C-T p.Pro698Pro synonymous ANKS6 3 81782 3.66829E-5 40891 0 6.37024E-5
9-101530412-G-A p.Pro698Leu missense ANKS6 1 81774 1.22288E-5 40887 0 0.0010101
9-101530422-C-T p.Gly695Arg missense ANKS6 6 81958 7.32082E-5 40979 0 9.55414E-5
9-101530424-G-A p.Pro694Leu missense ANKS6 2 81986 2.43944E-5 40993 0 3.18512E-5
9-101530425-G-A p.Pro694Ser missense ANKS6 2 81986 2.43944E-5 40993 0 3.18492E-5
9-101530427-GC-AA p.Ala693Leu missense ANKS6 7 82034 8.53305E-5 41017 0 NA
9-101530427-G-A p.Ala693Val missense ANKS6 1 82034 1.21901E-5 41017 0 3.18471E-5
9-101530428-C-A p.Ala693Ser missense ANKS6 1 82060 1.21862E-5 41030 0 3.18512E-5
9-101530432-C-G p.Gly691Gly synonymous ANKS6 3 82100 3.65408E-5 41050 0 3.62433E-5
9-101530441-G-A p.Ser688Ser synonymous ANKS6 1 82244 1.21589E-5 41122 0 NA
9-101530442-C-T p.Ser688Asn missense ANKS6 1 82266 1.21557E-5 41133 0 NA
9-101530443-T-C p.Ser688Gly missense ANKS6 1 82304 1.21501E-5 41152 0 1.60825E-5
9-101530448-C-T p.Arg686Gln missense ANKS6 4 82374 4.8559E-5 41187 0 1.6082E-5
9-101530464-G-C p.Gln681Glu missense ANKS6 1 82668 1.20966E-5 41334 0 4.01594E-6
9-101530475-C-T p.Gly677Glu missense ANKS6 11 82882 1.32719E-4 41441 0 3.61179E-5
9-101530476-C-T p.Gly677Arg missense ANKS6 2 82900 2.41255E-5 41450 0 5.04032E-4
9-101530477-G-A p.Ala676Ala synonymous ANKS6 5 82906 6.03093E-5 41453 0 6.37064E-5
9-101530496-G-A p.Ala670Val missense ANKS6 1 83080 1.20366E-5 41540 0 1.66806E-5
9-101530501-G-A p.Ile668Ile synonymous ANKS6 1 83156 1.20256E-5 41578 0 8.0195E-6
9-101530515-C-T p.Val664Ile missense ANKS6 1 83224 1.20158E-5 41612 0 1.66492E-5
9-101530516-A-G p.Asn663Asn synonymous ANKS6 2 83224 2.40315E-5 41612 0 1.66478E-5
9-101530517-T-C p.Asn663Ser missense ANKS6 1 83234 1.20143E-5 41617 0 3.18593E-5
9-101530535-G-C c.1973-3C>G splice_region ANKS6 2 83212 2.4035E-5 41606 0 3.18492E-5
9-101533175-C-T c.1972+3G>A splice_region ANKS6 1 79978 1.25034E-5 39989 0 1.12176E-5
9-101533183-C-T p.Arg656His missense ANKS6 6 80270 7.47477E-5 40135 0 6.36943E-5
9-101533184-G-A p.Arg656Cys missense ANKS6 1 80386 1.244E-5 40193 0 9.55292E-5
9-101533190-G-T p.Leu654Ile missense ANKS6 2 80678 2.47899E-5 40339 0 NA
9-101533190-G-A p.Leu654Phe missense ANKS6 2 80678 2.47899E-5 40339 0 NA
9-101533202-C-T p.Gly650Ser missense ANKS6 3 81230 3.69322E-5 40615 0 5.09684E-4
9-101533203-G-A p.His649His synonymous ANKS6 4 81350 4.91703E-5 40675 0 9.55779E-5
9-101533207-C-T p.Arg648Gln missense ANKS6 5 81548 6.13136E-5 40774 0 7.67563E-5
9-101533208-G-A p.Arg648Trp missense ANKS6 1 81776 1.22285E-5 40888 0 5.09693E-5
9-101533209-G-A p.Ser647Ser synonymous ANKS6 2 81900 2.442E-5 40950 0 3.64027E-5
9-101533210-C-T p.Ser647Asn missense ANKS6 1 81986 1.21972E-5 40993 0 2.25658E-5
9-101533212-C-G p.Val646Val synonymous ANKS6 2 82030 2.43813E-5 41015 0 NA
9-101533218-T-C p.Val644Val synonymous ANKS6 3 82268 3.64662E-5 41134 0 9.12542E-6
9-101533220-C-T p.Val644Ile missense ANKS6 76827 81128 0.946985 40564 36481 0.950355
9-101533221-C-A p.Gly643Gly synonymous ANKS6 1 82302 1.21504E-5 41151 0 NA
9-101533223-C-T p.Gly643Arg missense ANKS6 4 82422 4.85307E-5 41211 0 8.44067E-6
9-101533232-C-T p.Gly640Ser missense ANKS6 1 82520 1.21183E-5 41260 0 2.55367E-5
9-101533233-G-A p.Gly639Gly synonymous ANKS6 5 82496 6.0609E-5 41248 0 5.90737E-5
9-101533236-C-T p.Ser638Ser synonymous ANKS6 2 82548 2.42283E-5 41274 0 2.12406E-5
9-101533237-G-A p.Ser638Leu missense ANKS6 6 82564 7.26709E-5 41282 0 3.37285E-5
9-101533248-C-G p.Ser634Ser synonymous ANKS6 1 82692 1.20931E-5 41346 0 NA
9-101533263-T-G p.Gly629Gly synonymous ANKS6 1 82814 1.20753E-5 41407 0 NA
9-101533267-G-A p.Ser628Phe missense ANKS6 6 82772 7.24883E-5 41386 0 2.9509E-4
9-101533283-C-T p.Ala623Thr missense ANKS6 1 82668 1.20966E-5 41334 0 NA
9-101533291-C-A p.Arg620Ile missense ANKS6 1 82634 1.21016E-5 41317 0 NA
9-101533296-G-A p.Leu618Leu synonymous ANKS6 178 82590 0.00215522 41295 2 0.00516022
9-101533308-T-G p.Lys614Asn missense ANKS6 1 82502 1.21209E-5 41251 0 NA
9-101533322-C-T p.Val610Ile missense ANKS6 58 82200 7.05596E-4 41100 1 6.25E-4
9-101533323-G-A p.Pro609Pro synonymous ANKS6 2 82202 2.43303E-5 41101 0 8.8706E-5
9-101533328-T-TAGTGTCTGTGCCCCCGCCGCCCACGGGGTGGC c.1822-1_1822insGCCACCCCGTGGGCGGCGGGGGCACAGACACT splice_acceptor ANKS6 2 81814 2.44457E-5 40907 1 NA
9-101536160-G-A p.Thr607Ile missense+splice_region ANKS6 9 81940 1.09836E-4 40970 0 2.54842E-4
9-101536166-G-A p.Thr605Ile missense ANKS6 2 82260 2.43132E-5 41130 0 9.27111E-6
9-101536174-G-A p.Gly602Gly synonymous ANKS6 3 82502 3.63628E-5 41251 0 8.21198E-5
9-101536176-C-T p.Gly602Ser missense ANKS6 4 82526 4.84696E-5 41263 0 3.18674E-5
9-101536177-G-A p.Gly601Gly synonymous ANKS6 1 82594 1.21074E-5 41297 0 3.18817E-5
9-101536182-C-T p.Val600Met missense ANKS6 6 82714 7.25391E-5 41357 0 6.37633E-5
9-101536185-G-A p.Pro599Ser missense ANKS6 2 82838 2.41435E-5 41419 0 NA
9-101536189-G-GC p.His598fs frameshift ANKS6 1 82868 1.20674E-5 41434 0 NA
9-101536198-G-A p.Ala594Ala synonymous ANKS6 22 83048 2.64907E-4 41524 1 0.00100861
9-101536205-T-C p.Gln592Arg missense ANKS6 6 83120 7.21848E-5 41560 0 5.1624E-5
9-101536208-G-C p.Pro591Arg missense ANKS6 13 83148 1.56348E-4 41574 0 4.1507E-4
9-101536212-G-A p.Leu590Leu synonymous ANKS6 2 83190 2.40414E-5 41595 0 4.24333E-6
9-101536213-C-T p.Ala589Ala synonymous ANKS6 361 83168 0.00434061 41584 8 0.00881902
9-101536214-G-A p.Ala589Val missense ANKS6 1 83176 1.20227E-5 41588 0 6.391E-5
9-101536223-A-C p.Met586Arg missense ANKS6 1 83208 1.20181E-5 41604 0 NA
9-101536224-T-C p.Met586Val missense ANKS6 1 83194 1.20201E-5 41597 0 NA
9-101536226-G-T p.Pro585His missense ANKS6 2 83206 2.40367E-5 41603 0 NA
9-101536234-C-T p.Lys582Lys synonymous ANKS6 1 83228 1.20152E-5 41614 0 0.00100806
9-101536240-G-A p.Asn580Asn synonymous ANKS6 71 83206 8.53304E-4 41603 0 0.00403226
9-101536244-T-C p.His579Arg missense ANKS6 2 83206 2.40367E-5 41603 0 6.4E-5
9-101536248-G-A p.Arg578Cys missense ANKS6 1 83198 1.20195E-5 41599 0 8.49777E-6
9-101536249-C-T p.Thr577Thr synonymous ANKS6 35 83186 4.20744E-4 41593 0 2.04099E-4
9-101536250-G-A p.Thr577Met missense ANKS6 5 83188 6.01048E-5 41594 0 3.20266E-5
9-101536254-G-A p.Arg576Trp missense ANKS6 1 83202 1.20189E-5 41601 0 1.69686E-5
9-101536259-C-T p.Arg574Gln missense ANKS6 2 83158 2.40506E-5 41579 0 0.00100705
9-101536260-G-A p.Arg574Trp missense ANKS6 4 83166 4.80966E-5 41583 0 4.28383E-6
9-101536265-G-A p.Ser572Phe missense ANKS6 1 83170 1.20236E-5 41585 0 NA
9-101536283-C-A p.Ser566Ile missense ANKS6 4 83000 4.81928E-5 41500 0 3.20225E-5
9-101536288-A-AGG p.Ser565fs frameshift ANKS6 1 83026 1.20444E-5 41513 0 NA
9-101536290-G-T p.Pro564Thr missense ANKS6 23 83052 2.76935E-4 41526 2 5.04032E-4
9-101536290-G-C p.Pro564Ala missense ANKS6 6 83050 7.22456E-5 41525 0 1.38276E-4
9-101536290-G-A p.Pro564Ser missense ANKS6 2 83054 2.40807E-5 41527 0 3.19142E-5
9-101536300-T-C p.Pro560Pro synonymous ANKS6 6 82958 7.23258E-5 41479 0 3.14027E-4
9-101536300-T-TG p.Phe561fs frameshift ANKS6 1 82958 1.20543E-5 41479 0 NA
9-101536302-G-T p.Pro560Thr missense ANKS6 1 83016 1.20459E-5 41508 0 NA
9-101536305-GGA-AGT p.IlePro558AsnSer missense ANKS6 1 82952 1.20552E-5 41476 0 NA
9-101536314-C-T p.Ala556Thr missense ANKS6 1 82962 1.20537E-5 41481 0 NA
9-101536315-T-C p.Lys555Lys synonymous ANKS6 2 82958 2.41086E-5 41479 0 3.18776E-5
9-101536316-T-C p.Lys555Arg missense ANKS6 1 82970 1.20525E-5 41485 0 NA
9-101536331-G-A p.Pro550Leu missense ANKS6 1 82820 1.20744E-5 41410 0 9.96075E-6
9-101536339-G-T p.Thr547Thr synonymous ANKS6 9 82654 1.08888E-4 41327 0 1.27478E-4
9-101536354-G-A p.Asn542Asn synonymous ANKS6 3 81854 3.66506E-5 40927 0 3.18776E-5
9-101536355-T-G p.Asn542Thr missense ANKS6 1 81864 1.22154E-5 40932 0 NA
9-101536358-C-T p.Arg541Gln missense ANKS6 1 81616 1.22525E-5 40808 0 9.32158E-6
9-101536359-G-A p.Arg541* stop_gained ANKS6 2 81756 2.4463E-5 40878 0 6.28014E-6
9-101536363-C-CATGGTTGTCAATAACGTGTCTTCCTTTTCTCCTCTTG c.1618-2_1618-1insCAAGAGGAGAAAAGGAAGACACGTTATTGACAACCAT splice_acceptor ANKS6 1 81510 1.22684E-5 40755 0 NA
9-101539694-G-A p.Thr537Ile missense ANKS6 1 83064 1.20389E-5 41532 0 NA
9-101539702-C-T p.Thr534Thr synonymous ANKS6 5 83054 6.02018E-5 41527 0 9.55414E-5
9-101539703-G-A p.Thr534Met missense ANKS6 1 83048 1.20412E-5 41524 0 1.65629E-5
9-101539706-T-C p.Asp533Gly missense ANKS6 3 83074 3.61124E-5 41537 0 8.28157E-6
9-101539731-C-T p.Gly525Arg missense ANKS6 1 83008 1.2047E-5 41504 0 8.2824E-6
9-101539739-G-A c.1568-3C>T splice_region ANKS6 2 82916 2.41208E-5 41458 0 8.28308E-6
9-101540510-T-C p.Asn522Ser missense+splice_region ANKS6 193 83166 0.00232066 41583 0 0.00327371
9-101540511-T-C p.Asn522Asp missense ANKS6 1 83162 1.20247E-5 41581 0 NA
9-101540512-G-A p.Asp521Asp synonymous ANKS6 2 83160 2.405E-5 41580 0 3.18492E-5
9-101540516-T-G p.Lys520Thr missense ANKS6 2 83176 2.40454E-5 41588 0 NA
9-101540531-G-A p.Ala515Val missense ANKS6 6 83210 7.21067E-5 41605 0 9.55353E-5
9-101540539-G-A p.Leu512Leu synonymous ANKS6 3 83216 3.60508E-5 41608 0 1.91058E-4
9-101540542-T-G p.Ala511Ala synonymous ANKS6 45 83200 5.40865E-4 41600 0 0.00226302
9-101540547-A-G p.Ser510Pro missense ANKS6 21 83204 2.52392E-4 41602 0 1.5641E-4
9-101540549-C-T p.Arg509His missense ANKS6 8 83196 9.61585E-5 41598 0 9.55475E-5
9-101540549-C-A p.Arg509Leu missense ANKS6 1 83196 1.20198E-5 41598 0 1.20331E-5
9-101540550-G-T p.Arg509Ser missense ANKS6 74 83200 8.89423E-4 41600 0 0.00130607
9-101540550-G-A p.Arg509Cys missense ANKS6 3 83200 3.60577E-5 41600 0 1.60442E-5
9-101540564-T-TG p.Gln504fs frameshift ANKS6 2 82990 2.40993E-5 41495 0 1.20557E-5
9-101540567-G-C p.Pro503Arg missense ANKS6 1 83032 1.20435E-5 41516 0 3.18613E-5
9-101540571-C-A p.Ala502Ser missense ANKS6 2 82816 2.41499E-5 41408 0 3.18552E-5
9-101540572-A-G p.Ala501Ala synonymous ANKS6 1 82816 1.2075E-5 41408 0 8.32889E-6
9-101540584-G-A p.Ser497Ser synonymous ANKS6 1 83028 1.20441E-5 41514 0 8.32626E-6
9-101540602-A-G p.Pro491Pro synonymous ANKS6 1 83132 1.20291E-5 41566 0 NA
9-101540607-C-T p.Glu490Lys missense ANKS6 116 83146 0.00139514 41573 1 6.33571E-4
9-101540608-G-A p.Asp489Asp synonymous ANKS6 4 83130 4.81174E-5 41565 0 6.41607E-5
9-101540614-G-C p.Phe487Leu missense ANKS6 2 83162 2.40494E-5 41581 0 NA
9-101540617-A-G p.Pro486Pro synonymous ANKS6 56 83190 6.73158E-4 41595 0 5.09424E-4
9-101540638-C-T p.Leu479Leu synonymous ANKS6 1 83182 1.20218E-5 41591 0 NA
9-101540641-C-T p.Gly478Gly synonymous ANKS6 1 83180 1.20221E-5 41590 0 NA
9-101540642-C-T p.Gly478Glu missense ANKS6 8 83190 9.61654E-5 41595 0 3.18634E-5
9-101540645-C-T p.Arg477His missense ANKS6 7 83182 8.41528E-5 41591 0 2.54907E-4
9-101540646-G-A p.Arg477Cys missense ANKS6 1 83184 1.20215E-5 41592 0 1.20278E-5
9-101540646-G-T p.Arg477Ser missense ANKS6 2 83184 2.40431E-5 41592 0 0.00100705
9-101540647-G-T p.Pro476Pro synonymous ANKS6 11 83196 1.32218E-4 41598 0 2.0043E-5
9-101540650-C-A p.Leu475Leu synonymous ANKS6 10 83188 1.2021E-4 41594 0 9.55779E-5
9-101540654-G-A p.Thr474Met missense ANKS6 1 83178 1.20224E-5 41589 0 9.56084E-5
9-101540656-CTGCATCAGTT-C p.Lys470fs frameshift ANKS6 1 83172 1.20233E-5 41586 0 NA
9-101540658-G-A p.Gln473* stop_gained ANKS6 1 83174 1.2023E-5 41587 0 4.00937E-6
9-101540666-T-C p.Lys470Arg missense ANKS6 2 83168 2.40477E-5 41584 0 NA
9-101540675-C-T p.Arg467Gln missense ANKS6 7 83098 8.42379E-5 41549 0 6.74684E-5
9-101540676-G-A p.Arg467* stop_gained ANKS6 1 83090 1.20351E-5 41545 0 8.46095E-6
9-101540682-G-A p.Arg465Trp missense ANKS6 2 83046 2.4083E-5 41523 0 3.18715E-5
9-101540684-T-C p.Asn464Ser missense ANKS6 6 83018 7.22735E-5 41509 0 2.89293E-4
9-101540692-T-A p.Arg461Arg synonymous ANKS6 1 82942 1.20566E-5 41471 0 3.18735E-5
9-101540694-G-A p.Arg461* stop_gained ANKS6 2 82896 2.41266E-5 41448 0 3.18593E-5
9-101540704-G-A p.Ser457Ser splice_region+synonymous ANKS6 2 82734 2.41739E-5 41367 0 NA
9-101540708-T-TTCA c.1369-3_1369-2insTGA splice_region ANKS6 2 82662 2.41949E-5 41331 1 NA
9-101542476-G-A p.Leu455Leu synonymous ANKS6 1 82756 1.20837E-5 41378 0 1.71089E-5
9-101542478-C-A p.Gly454Val missense ANKS6 2 82782 2.41598E-5 41391 0 3.18451E-5
9-101542479-C-T p.Gly454Arg missense ANKS6 5 82800 6.03865E-5 41400 0 0.00101112
9-101542492-G-C p.Pro449Pro synonymous ANKS6 1 82944 1.20563E-5 41472 0 8.52951E-6
9-101542501-T-C p.Pro446Pro synonymous ANKS6 2 82962 2.41074E-5 41481 0 9.55779E-5
9-101542502-G-A p.Pro446Leu missense ANKS6 2 82974 2.41039E-5 41487 0 8.5473E-6
9-101542509-T-G p.Ser444Arg missense ANKS6 2 82950 2.41109E-5 41475 0 NA
9-101542517-T-C p.Gln441Arg missense ANKS6 23 82924 2.77362E-4 41462 0 0.0015121
9-101542520-C-T p.Arg440Gln missense ANKS6 6 82996 7.22926E-5 41498 0 1.74697E-5
9-101542521-G-A p.Arg440* stop_gained ANKS6 2 83028 2.40883E-5 41514 0 8.76025E-6
9-101542524-C-T p.Val439Ile missense ANKS6 1 83020 1.20453E-5 41510 0 NA
9-101542528-C-T p.Ser437Ser synonymous ANKS6 1 83016 1.20459E-5 41508 0 2.81649E-5
9-101542529-G-A p.Ser437Leu missense ANKS6 3 83016 3.61376E-5 41508 0 5.04032E-4
9-101542531-G-C p.His436Gln missense ANKS6 1 83024 1.20447E-5 41512 0 NA
9-101542538-A-G p.Leu434Pro missense ANKS6 7 82996 8.43414E-5 41498 0 0.001875
9-101542546-C-T p.Gln431Gln synonymous ANKS6 1 82898 1.2063E-5 41449 0 4.04685E-6
9-101542555-C-T p.Pro428Pro synonymous ANKS6 4 82738 4.83454E-5 41369 0 2.45066E-5
9-101542556-G-A p.Pro428Leu missense ANKS6 1 82674 1.20957E-5 41337 0 5.04541E-4
9-101542559-C-T p.Arg427Gln missense ANKS6 2 82696 2.4185E-5 41348 0 4.52552E-5
9-101542560-G-A p.Arg427Trp missense ANKS6 6 82644 7.26006E-5 41322 0 1.15323E-4
9-101542573-A-G p.Asn422Asn synonymous ANKS6 2 82712 2.41803E-5 41356 0 NA
9-101542584-T-C p.Met419Val missense ANKS6 1 82706 1.2091E-5 41353 0 4.26069E-6
9-101542596-C-T p.Ala415Thr missense ANKS6 1 82686 1.20939E-5 41343 0 NA
9-101542604-C-T p.Arg412Gln missense ANKS6 4 82598 4.84273E-5 41299 0 3.1839E-5
9-101542605-G-A p.Arg412* stop_gained ANKS6 1 82610 1.21051E-5 41305 0 NA
9-101542615-C-T p.Thr408Thr synonymous ANKS6 1 82608 1.21054E-5 41304 0 4.79943E-6
9-101542616-G-A p.Thr408Met missense ANKS6 1 82602 1.21062E-5 41301 0 2.41614E-5
9-101542625-G-A c.1220-6C>T splice_region ANKS6 1 82496 1.21218E-5 41248 0 NA
9-101544749-C-T p.Asp407Asn missense+splice_region ANKS6 1 83174 1.2023E-5 41587 0 2.48558E-5
9-101544750-G-A p.Pro406Pro splice_region+synonymous ANKS6 2 83194 2.40402E-5 41597 0 3.31367E-5
9-101544756-A-G p.Asn404Asn synonymous ANKS6 1 83248 1.20123E-5 41624 0 NA
9-101544768-C-T p.Val400Val synonymous ANKS6 3 83274 3.60256E-5 41637 0 NA
9-101544782-C-T p.Ala396Thr missense ANKS6 1 83316 1.20025E-5 41658 0 NA
9-101544783-C-T p.Thr395Thr synonymous ANKS6 1 83312 1.20031E-5 41656 0 7.61267E-5
9-101544784-G-A p.Thr395Met missense ANKS6 4 83316 4.801E-5 41658 0 2.80473E-5
9-101544802-C-T p.Arg389His missense ANKS6 3 83314 3.60084E-5 41657 0 1.20205E-5
9-101544803-G-A p.Arg389Cys missense ANKS6 4 83320 4.80077E-5 41660 0 3.19591E-5
9-101544808-G-A p.Thr387Ile missense ANKS6 2 83320 2.40038E-5 41660 0 1.65634E-5
9-101544813-A-G p.Asp385Asp synonymous ANKS6 1 83308 1.20036E-5 41654 0 5.79729E-5
9-101544816-G-A p.Ala384Ala synonymous ANKS6 2 83290 2.40125E-5 41645 0 6.36943E-5
9-101544833-G-C p.Leu379Val missense ANKS6 1 83246 1.20126E-5 41623 0 NA
9-101544834-A-G p.Tyr378Tyr synonymous ANKS6 21 83238 2.52289E-4 41619 0 1.16034E-4
9-101544843-A-G p.Ile375Ile synonymous ANKS6 14 83152 1.68366E-4 41576 0 0.00107001
9-101544845-T-C p.Ile375Val missense ANKS6 1 83146 1.2027E-5 41573 0 4.00718E-6
9-101544853-T-C p.Asn372Ser missense+splice_region ANKS6 22 83030 2.64964E-4 41515 0 6.39141E-5
9-101544860-G-GA c.1113-6_1113-5insT splice_region ANKS6 1 82934 1.20578E-5 41467 0 3.34001E-4
9-101544861-A-G c.1113-6T>C splice_region ANKS6 5 82928 6.02933E-5 41464 0 8.364E-6
9-101546202-CCTTGTCGCTGAGGGCGTGGGGCTGGCACTGACCCATGG-C p.Tyr369_Gly371delinsTer splice_donor ANKS6 1 73712 1.35663E-5 36856 0 NA
9-101546230-C-T c.1112+5G>A splice_region ANKS6 1 79608 1.25616E-5 39804 0 NA
9-101546236-C-A p.Gly371Trp missense+splice_region ANKS6 2 80258 2.49196E-5 40129 0 NA
9-101546238-T-C p.His370Arg missense ANKS6 1 80474 1.24264E-5 40237 0 3.19448E-5
9-101546245-T-G p.Thr368Pro missense ANKS6 1 80940 1.23548E-5 40470 0 NA
9-101546248-C-A p.Ala367Ser missense ANKS6 9 81086 1.10993E-4 40543 0 5.04541E-4
9-101546259-G-A p.Ala363Val missense ANKS6 2 81668 2.44894E-5 40834 0 8.5552E-6
9-101546261-C-T p.Thr362Thr synonymous ANKS6 1 81768 1.22297E-5 40884 0 3.19652E-5
9-101546262-G-A p.Thr362Met missense ANKS6 3 81934 3.66148E-5 40967 0 NA
9-101546270-A-G p.His359His synonymous ANKS6 10 82344 1.21442E-4 41172 0 5.90578E-5
9-101546275-C-T p.Val358Met missense ANKS6 1 82472 1.21253E-5 41236 0 3.19428E-5
9-101546276-G-C p.Ser357Arg missense ANKS6 2 82460 2.42542E-5 41230 0 NA
9-101546291-A-G p.Val352Val synonymous ANKS6 2 82744 2.41709E-5 41372 0 9.58466E-5
9-101546293-C-T p.Val352Ile missense ANKS6 4 82748 4.83395E-5 41374 0 8.34752E-6
9-101546298-G-A p.Ala350Val missense ANKS6 1 82792 1.20785E-5 41396 0 2.50234E-5
9-101546299-C-T p.Ala350Thr missense ANKS6 2 82810 2.41517E-5 41405 0 9.5706E-5
9-101546300-G-A p.His349His synonymous ANKS6 2 82796 2.41558E-5 41398 0 1.21616E-5
9-101546323-C-G p.Val342Leu missense ANKS6 2 82970 2.41051E-5 41485 0 NA
9-101546325-A-G p.Leu341Pro missense ANKS6 1 82972 1.20523E-5 41486 0 NA
9-101546328-G-A p.Ala340Val missense ANKS6 1 82958 1.20543E-5 41479 0 NA
9-101546334-T-C p.Gln338Arg missense ANKS6 2 83000 2.40964E-5 41500 0 1.62044E-5
9-101546339-C-T p.Thr336Thr synonymous ANKS6 154 83024 0.00185489 41512 0 0.001875
9-101546340-G-A p.Thr336Met missense ANKS6 2 83028 2.40883E-5 41514 0 5.84678E-5
9-101546347-C-A p.Ala334Ser missense ANKS6 1 83088 1.20354E-5 41544 0 8.379E-6
9-101546363-C-T p.Thr328Thr synonymous ANKS6 2 83066 2.40772E-5 41533 0 0.0020141
9-101546366-C-T p.Ala327Ala synonymous ANKS6 1 83036 1.2043E-5 41518 0 2.07912E-5
9-101546367-G-A p.Ala327Val missense ANKS6 2 83026 2.40888E-5 41513 0 4.16531E-6
9-101546372-G-A p.Asp325Asp synonymous ANKS6 33 82990 3.97638E-4 41495 0 0.00213781
9-101546378-A-G p.Asn323Asn synonymous ANKS6 2 82848 2.41406E-5 41424 0 8.57456E-6
9-101546379-T-C p.Asn323Ser missense ANKS6 1 82868 1.20674E-5 41434 0 1.4273E-4
9-101546389-T-G p.Asn320His missense ANKS6 1 82806 1.20764E-5 41403 0 4.36784E-6
9-101546392-C-T p.Val319Met missense ANKS6 4 82772 4.83255E-5 41386 0 1.75226E-5
9-101546392-C-A p.Val319Leu missense ANKS6 1 82772 1.20814E-5 41386 0 3.18552E-5
9-101546395-G-T p.His318Asn missense ANKS6 9 82776 1.08727E-4 41388 0 1.47806E-4
9-101546403-T-A p.Asp315Val missense ANKS6 1 82540 1.21153E-5 41270 0 1.86848E-5
9-101546410-C-T p.Asp313Asn missense ANKS6 48 82526 5.81635E-4 41263 0 0.00211153
9-101546416-T-C p.Ile311Val missense ANKS6 1 82374 1.21398E-5 41187 0 NA
9-101546419-CTT-C p.Lys309fs frameshift ANKS6 1 82244 1.21589E-5 41122 0 9.8782E-6
9-101546427-A-G p.Leu307Pro missense ANKS6 3 81864 3.66461E-5 40932 0 1.04976E-5
9-101546432-G-T p.Phe305Leu missense ANKS6 1 81632 1.22501E-5 40816 0 1.8062E-5
9-101546432-G-C p.Phe305Leu missense ANKS6 5 81634 6.1249E-5 40817 0 5.30808E-6
9-101546440-C-CCATTTTCAATGCATGGAAAATATCAGGTCGCCTTTTCTCCTCA c.908-2_908-1insTGAGGAGAAAAGGCGACCTGATATTTTCCATGCATTGAAAATG splice_acceptor ANKS6 2 81524 2.45327E-5 40762 1 NA
9-101546440-C-CCATTTTCAATGCA c.908-2_908-1insTGCATTGAAAATG splice_acceptor ANKS6 1 81524 1.22663E-5 40762 0 NA
9-101546657-G-A n.89+5C>T splice_region ANKS6 1 24476 4.08564E-5 12238 0 NA
9-101546661-C-G n.89+1G>C splice_donor ANKS6 1 23802 4.20133E-5 11901 0 NA
9-101546661-C-A n.89+1G>T splice_donor ANKS6 1 23802 4.20133E-5 11901 0 NA
9-101546664-A-G n.87T>C splice_region ANKS6 1 23706 4.21834E-5 11853 0 NA
9-101547106-G-A c.907+8C>T splice_region ANKS6 2 82788 2.41581E-5 41394 0 1.66268E-5
9-101547106-G-C c.907+8C>G splice_region ANKS6 3 82788 3.62371E-5 41394 0 1.66268E-5
9-101547107-C-A c.907+7G>T splice_region ANKS6 1 82768 1.2082E-5 41384 0 NA
9-101547108-G-T c.907+6C>A splice_region ANKS6 1 82784 1.20796E-5 41392 0 8.31366E-6
9-101547108-G-A c.907+6C>T splice_region ANKS6 1 82784 1.20796E-5 41392 0 8.31366E-6
9-101547117-T-C p.Met1? start_lost ANKS6 1 82904 1.20621E-5 41452 0 2.49348E-5
9-101547130-GA-G p.Phe297fs frameshift ANKS6 1 82996 1.20488E-5 41498 0 NA
9-101547135-T-C p.Ile296Val missense ANKS6 1 82988 1.20499E-5 41494 0 3.32458E-5
9-101547140-G-A p.Pro294Leu missense ANKS6 2 83020 2.40906E-5 41510 0 NA
9-101547143-C-T p.Arg293Gln missense ANKS6 1 83002 1.20479E-5 41501 0 5.03525E-4
9-101547144-G-A p.Arg293* stop_gained ANKS6 2 82984 2.4101E-5 41492 0 4.0269E-6
9-101552380-C-A c.862+6G>T splice_region ANKS6 1 82260 1.21566E-5 41130 0 9.0652E-6
9-101552386-C-T p.Asp288Asn missense+splice_region ANKS6 2 82380 2.42777E-5 41190 0 9.05141E-6
9-101552396-C-T p.Arg284Arg synonymous ANKS6 1 82424 1.21324E-5 41212 0 9.00349E-6
9-101552401-C-T p.Val283Ile missense ANKS6 2 82520 2.42365E-5 41260 0 3.11446E-5
9-101552401-C-G p.Val283Leu missense ANKS6 1 82520 1.21183E-5 41260 0 NA
9-101552402-G-A p.Thr282Thr synonymous ANKS6 2 82542 2.42301E-5 41271 0 9.00301E-6
9-101552403-G-A p.Thr282Ile missense ANKS6 1 82556 1.2113E-5 41278 0 NA
9-101552405-G-A p.Thr281Thr synonymous ANKS6 1 82582 1.21092E-5 41291 0 NA
9-101552411-C-T p.Pro279Pro synonymous ANKS6 1 82646 1.20998E-5 41323 0 8.97521E-6
9-101552412-G-A p.Pro279Leu missense ANKS6 5 82678 6.04756E-5 41339 0 2.23846E-4
9-101552442-T-C p.Lys269Arg missense ANKS6 59 83020 7.10672E-4 41510 0 0.00375
9-101552450-C-T p.Leu266Leu synonymous ANKS6 1 83056 1.20401E-5 41528 0 8.64035E-6
9-101552462-G-A p.Phe262Phe synonymous ANKS6 1 83062 1.20392E-5 41531 0 1.69722E-5
9-101552467-C-T p.Ala261Thr missense ANKS6 1 83048 1.20412E-5 41524 0 3.18715E-5
9-101552468-G-A p.Thr260Thr synonymous ANKS6 2 83050 2.40819E-5 41525 0 4.21948E-5
9-101552470-T-C p.Thr260Ala missense ANKS6 9 83046 1.08374E-4 41523 0 8.42971E-6
9-101552476-C-G p.Glu258Gln missense ANKS6 35 83012 4.21626E-4 41506 0 9.5584E-4
9-101552480-C-T p.Val256Val synonymous ANKS6 7 83004 8.43333E-5 41502 0 3.18715E-5
9-101552482-C-T p.Val256Met missense ANKS6 1 82956 1.20546E-5 41478 0 2.01198E-5
9-101552491-G-A p.His253Tyr missense ANKS6 1 82904 1.20621E-5 41452 0 5.03525E-4
9-101552498-G-C p.Asn250Lys missense ANKS6 5 82816 6.03748E-5 41408 0 6.37349E-5
9-101552503-C-T p.Ala249Thr missense ANKS6 1 82646 1.20998E-5 41323 0 2.50803E-5
9-101552504-G-A p.Gly248Gly synonymous ANKS6 1 82610 1.21051E-5 41305 0 1.67191E-5
9-101552505-C-A p.Gly248Val missense ANKS6 2 82660 2.41955E-5 41330 0 6.37267E-5
9-101552515-C-T p.Val245Met missense ANKS6 1 82572 1.21106E-5 41286 0 NA
9-101552515-C-A p.Val245Leu missense ANKS6 5 82572 6.05532E-5 41286 0 0.00125
9-101552522-C-G p.Gln242His missense ANKS6 2 82414 2.42677E-5 41207 0 3.18695E-5
9-101552524-G-A p.Gln242* stop_gained ANKS6 1 82382 1.21386E-5 41191 0 NA
9-101552525-G-A p.Ala241Ala synonymous ANKS6 5 82368 6.07032E-5 41184 0 NA
9-101552533-C-T p.Gly239Arg missense ANKS6 1 82310 1.21492E-5 41155 0 NA
9-101552537-C-T p.Arg237Arg synonymous ANKS6 1 82206 1.21646E-5 41103 0 8.39447E-6
9-101552538-C-T p.Arg237Gln missense ANKS6 3 82192 3.64999E-5 41096 0 8.39631E-6
9-101552539-G-A p.Arg237Trp missense ANKS6 1 82120 1.21773E-5 41060 0 3.18817E-5
9-101552540-C-A p.Gly236Gly synonymous ANKS6 2 82134 2.43505E-5 41067 0 8.12236E-6
9-101552543-A-C p.Thr235Thr synonymous ANKS6 1 82108 1.21791E-5 41054 0 4.20232E-5
9-101552549-T-C p.Ala233Ala synonymous ANKS6 1 82012 1.21933E-5 41006 0 NA
9-101552552-G-A p.Ala232Ala synonymous ANKS6 1 81906 1.22091E-5 40953 0 1.22226E-5
9-101552558-C-T p.Met230Ile missense ANKS6 6 81830 7.33227E-5 40915 0 6.25E-4
9-101552564-C-T p.Pro228Pro synonymous ANKS6 4 81604 4.90172E-5 40802 0 1.59327E-4
9-101552565-G-A p.Pro228Leu missense ANKS6 1 81604 1.22543E-5 40802 0 3.38186E-5
9-101552567-G-A p.Ser227Ser synonymous ANKS6 1 81502 1.22696E-5 40751 0 1.69113E-5
9-101552569-T-A p.Ser227Cys missense ANKS6 1 81468 1.22748E-5 40734 0 NA
9-101552573-G-T p.Gly225Gly synonymous ANKS6 1 81426 1.22811E-5 40713 0 NA
9-101552579-G-A p.Thr223Thr synonymous ANKS6 1 81316 1.22977E-5 40658 0 3.38673E-5
9-101552583-C-T p.Arg222Gln missense ANKS6 5 81272 6.15218E-5 40636 0 2.96334E-4
9-101552584-G-A p.Arg222Trp missense ANKS6 553 81226 0.00680816 40613 5 0.01625
9-101552584-G-C p.Arg222Gly missense ANKS6 5 81232 6.15521E-5 40616 0 1.55628E-4
9-101552586-G-A p.Ala221Val missense ANKS6 5 81198 6.15779E-5 40599 0 1.69288E-5
9-101552590-C-T p.Ala220Thr missense ANKS6 250 81138 0.00308117 40569 0 0.00704935
9-101552591-G-T p.His219Gln missense ANKS6 1 81220 1.23122E-5 40610 0 NA
9-101552591-G-A p.His219His synonymous ANKS6 1 81220 1.23122E-5 40610 0 3.18471E-5
9-101552596-T-G p.Asn218His missense ANKS6 1 81264 1.23056E-5 40632 0 4.08624E-6
9-101552603-C-T p.Ala215Ala synonymous ANKS6 1 81078 1.23338E-5 40539 0 1.26996E-4
9-101552605-C-T p.Ala215Thr missense ANKS6 10 80930 1.23564E-4 40465 0 1.27429E-4
9-101552606-G-A p.Gly214Gly synonymous ANKS6 1 80878 1.23643E-5 40439 0 8.46267E-6
9-101552607-C-A p.Gly214Val missense ANKS6 1 80962 1.23515E-5 40481 0 NA
9-101552609-C-T p.Trp213* stop_gained ANKS6 1 80978 1.2349E-5 40489 0 NA
9-101552614-C-G p.Glu212Gln missense ANKS6 1 81060 1.23365E-5 40530 0 1.69085E-5
9-101552618-C-T p.Leu210Leu synonymous ANKS6 1 81064 1.23359E-5 40532 0 NA
9-101552625-C-T p.Arg208His missense ANKS6 2 80968 2.47011E-5 40484 0 5.03525E-4
9-101552632-C-T p.Val206Met missense ANKS6 5 80830 6.18582E-5 40415 0 6.37349E-5
9-101552633-G-A p.Ala205Ala synonymous ANKS6 90 80822 0.00111356 40411 1 0.00365251
9-101552638-C-T p.Glu204Lys missense ANKS6 1 80760 1.23824E-5 40380 0 4.06841E-6
9-101552639-G-A p.His203His synonymous ANKS6 19 80702 2.35434E-4 40351 0 5.03525E-4
9-101552641-G-A p.His203Tyr missense ANKS6 1 80714 1.23894E-5 40357 0 4.06491E-6
9-101552645-G-A p.His201His synonymous ANKS6 67 80754 8.2968E-4 40377 0 0.00216643
9-101552652-A-G p.Ile199Thr missense ANKS6 2 80872 2.47304E-5 40436 0 1.68557E-5
9-101552663-C-T p.Leu195Leu synonymous ANKS6 354 80992 0.0043708 40496 7 0.00885576
9-101552664-A-G p.Leu195Pro missense ANKS6 1 80992 1.23469E-5 40496 0 4.05983E-6
9-101552665-G-A c.-3C>T 5_prime_UTR_premature_start_codon_gain ANKS6 55 80946 6.79465E-4 40473 1 3.97999E-4
9-101552683-G-C p.Pro189Ala missense ANKS6 12 81072 1.48017E-4 40536 0 3.82263E-4
9-101552693-G-A p.Ser185Ser synonymous ANKS6 1 81246 1.23083E-5 40623 0 NA
9-101552694-C-T p.Ser185Asn missense ANKS6 3 81252 3.69222E-5 40626 0 9.55597E-5
9-101552698-C-T p.Gly184Ser missense ANKS6 6 81240 7.38552E-5 40620 0 6.25E-4
9-101552699-G-A p.Gly183Gly synonymous ANKS6 9 81178 1.10867E-4 40589 0 3.3873E-5
9-101552702-C-G p.Leu182Phe missense ANKS6 2 81312 2.45966E-5 40656 0 3.18573E-5
9-101552710-G-A c.-48C>T 5_prime_UTR_premature_start_codon_gain ANKS6 26 81388 3.19457E-4 40694 0 2.15358E-4
9-101552711-T-C p.Gln179Gln synonymous ANKS6 117 81374 0.00143781 40687 0 0.00375
9-101552716-C-T p.Glu178Lys missense ANKS6 64 81344 7.86782E-4 40672 0 0.00125
9-101552717-G-T p.Gly177Gly synonymous ANKS6 3 81306 3.68976E-5 40653 0 8.47946E-6
9-101552725-G-C p.Pro175Ala missense ANKS6 1 81408 1.22838E-5 40704 0 NA
9-101552744-G-A p.Ala168Ala synonymous ANKS6 7 81286 8.61157E-5 40643 0 1.69866E-5
9-101552749-C-T p.Gly167Ser missense ANKS6 2 81132 2.46512E-5 40566 0 5.03525E-4
9-101552750-G-A c.-88C>T 5_prime_UTR_premature_start_codon_gain ANKS6 7 81068 8.63473E-5 40534 0 3.8219E-4
9-101552751-G-A p.Ala166Val missense ANKS6 2 81000 2.46914E-5 40500 1 NA
9-101552759-G-A p.Leu163Leu synonymous ANKS6 5 80908 6.17986E-5 40454 0 NA
9-101552770-C-T p.Val160Met missense ANKS6 3 80680 3.71839E-5 40340 0 3.18512E-5
9-101552775-C-A p.Gly158Val missense ANKS6 3 80596 3.72227E-5 40298 0 8.56546E-6
9-101552776-C-T p.Gly158Ser missense ANKS6 1 80562 1.24128E-5 40281 0 NA
9-101552785-C-T p.Gly155Ser missense ANKS6 6 80292 7.47272E-5 40146 0 3.26731E-5
9-101552791-G-A p.Arg153Trp missense ANKS6 2 80330 2.48973E-5 40165 0 3.18573E-5
9-101552805-A-G p.Leu148Pro missense ANKS6 1 80310 1.24517E-5 40155 0 NA
9-101552811-C-T p.Ser146Asn missense ANKS6 1 80234 1.24635E-5 40117 0 4.06937E-6
9-101552814-GC-G p.Ala145fs frameshift ANKS6 1 80104 1.24838E-5 40052 0 8.14306E-6
9-101552817-C-G p.Gly144Ala missense ANKS6 6 80214 7.47999E-5 40107 0 1.27429E-4
9-101552821-G-C p.Leu143Val missense ANKS6 1 80154 1.2476E-5 40077 0 NA
9-101552822-C-T p.Arg142Arg synonymous ANKS6 1 80148 1.24769E-5 40074 0 8.50485E-6
9-101552823-C-T p.Arg142Gln missense ANKS6 3 80132 3.74382E-5 40066 0 1.59236E-4
9-101552824-G-A p.Arg142Trp missense ANKS6 3 80130 3.74392E-5 40065 0 3.39991E-5
9-101552860-G-A c.-198C>T 5_prime_UTR_premature_start_codon_gain ANKS6 3 79458 3.77558E-5 39729 0 3.42571E-5
9-101552864-G-A p.His128His synonymous ANKS6 1 79334 1.26049E-5 39667 0 6.25E-4
9-101552866-G-T p.His128Asn missense ANKS6 2 79282 2.52264E-5 39641 0 9.55353E-5
9-101552886-A-C p.Phe121Cys missense+splice_region ANKS6 2 78998 2.53171E-5 39499 0 4.10661E-6
9-101558416-T-G p.Arg120Arg splice_region+synonymous ANKS6 1 37566 2.66198E-5 18783 0 NA
9-101558432-C-A p.Ala114Ala synonymous ANKS6 1 38094 2.62509E-5 19047 0 NA
9-101558444-G-A p.Tyr110Tyr synonymous ANKS6 4279 38640 0.11074 19320 283 0.260525
9-101558449-G-A p.His109Tyr missense ANKS6 1 39148 2.55441E-5 19574 0 3.56608E-5
9-101558452-T-C p.Asn108Asp missense ANKS6 1 39102 2.55741E-5 19551 0 NA
9-101558477-G-A p.Arg99Arg synonymous ANKS6 3 39624 7.57117E-5 19812 0 4.89476E-4
9-101558493-A-G p.Val94Ala missense ANKS6 19 40222 4.72378E-4 20111 0 0.00249584
9-101558498-C-A p.Pro92Pro synonymous ANKS6 2 40268 4.96672E-5 20134 0 2.42954E-4
9-101558498-C-T p.Pro92Pro synonymous ANKS6 1 40268 2.48336E-5 20134 0 NA
9-101558509-C-T p.Gly89Ser missense ANKS6 1 40360 2.4777E-5 20180 0 NA
9-101558510-C-G p.Gly88Gly synonymous ANKS6 2 40344 4.95737E-5 20172 0 NA
9-101558529-A-C p.Leu82Arg missense ANKS6 1 40318 2.48028E-5 20159 0 NA
9-101558539-T-C p.Asn79Asp missense ANKS6 1 39430 2.53614E-5 19715 0 3.72689E-5
9-101558563-C-A p.Val71Leu missense ANKS6 2 36978 5.40862E-5 18489 0 6.79348E-5
9-101558565-G-C p.Pro70Arg missense ANKS6 1 36932 2.70768E-5 18466 0 NA
9-101558581-C-A p.Val65Phe missense ANKS6 49 34594 0.00141643 17297 0 0.00507614
9-101558584-C-G p.Ala64Pro missense ANKS6 1 34344 2.91172E-5 17172 0 7.8125E-5
9-101558603-G-A p.Pro57Pro synonymous ANKS6 1 32288 3.09713E-5 16144 0 3.56201E-5
9-101558609-G-A p.Ala55Ala synonymous ANKS6 7937 29204 0.271778 14602 733 0.692308
9-101558616-TCGGCCCCCGCCGGCTCCGCGCCCGCCTC-T p.Glu44fs frameshift ANKS6 3 30548 9.82061E-5 15274 0 NA
9-101558619-G-A p.Ala52Val missense ANKS6 1 29996 3.33378E-5 14998 0 8.05153E-4
9-101558625-GCCGGCTCCGCGCCCGCCT-G p.Glu44_Pro49del disruptive_inframe_deletion ANKS6 1 29110 3.43525E-5 14555 0 NA
9-101558636-G-C p.Gly46Gly synonymous ANKS6 1 27220 3.67377E-5 13610 0 NA
9-101558640-G-A p.Ala45Val missense ANKS6 1 26588 3.7611E-5 13294 0 NA
9-101558673-G-A p.Ala34Val missense ANKS6 1 17140 5.83431E-5 8570 0 4.00032E-5
9-101558682-G-A p.Pro31Leu missense ANKS6 2 15646 1.27828E-4 7823 0 NA
9-101558706-T-G p.Glu23Ala missense ANKS6 1 15172 6.59109E-5 7586 0 4.01316E-5
9-101558752-G-A p.Pro8Ser missense ANKS6 1 14210 7.0373E-5 7105 0 NA
9-101558755-G-A p.Pro7Ser missense ANKS6 6 14054 4.26925E-4 7027 0 NA
9-101558765-C-CTCGCCCA p.Glu3fs frameshift ANKS6 1 13636 7.33353E-5 6818 0 4.00192E-5
9-101558769-C-T p.Gly2Asp missense ANKS6 1 13324 7.50525E-5 6662 0 NA
9-101558777-C-A c.-4G>T 5_prime_UTR_premature_start_codon_gain ANKS6 100 12688 0.00788146 6344 2 0.00550964
9-101558785-C-G c.-12G>C 5_prime_UTR_premature_start_codon_gain ANKS6 2 12088 1.65453E-4 6044 0 3.98692E-5