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Gene: ANKRD30B

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-14748299-G-T c.-120G>T 5_prime_UTR_premature_start_codon_gain ANKRD30B 16 54806 2.91939E-4 27403 0 0.00127869
18-14748366-C-T c.-53C>T 5_prime_UTR_premature_start_codon_gain ANKRD30B 1 75672 1.32149E-5 37836 0 3.2076E-5
18-14748400-C-G c.-19C>G 5_prime_UTR_premature_start_codon_gain ANKRD30B 2 78484 2.54829E-5 39242 0 NA
18-14748411-C-T c.-8C>T 5_prime_UTR_premature_start_codon_gain ANKRD30B 2 78906 2.53466E-5 39453 0 NA
18-14748423-A-C p.Lys2Thr missense ANKRD30B 1 79274 1.26145E-5 39637 0 1.73313E-5
18-14748426-G-A p.Arg3Lys missense ANKRD30B 1 79320 1.26072E-5 39660 0 3.19163E-5
18-14748427-G-T p.Arg3Ser missense ANKRD30B 63 79318 7.94271E-4 39659 1 0.00300976
18-14748435-C-A p.Ala6Asp missense ANKRD30B 1 79456 1.25856E-5 39728 0 NA
18-14748438-C-T p.Ala7Val missense ANKRD30B 1 79474 1.25827E-5 39737 0 3.19142E-5
18-14748439-C-A p.Ala7Ala synonymous ANKRD30B 2 79510 2.51541E-5 39755 0 1.58519E-5
18-14748455-C-A p.Arg13Arg synonymous ANKRD30B 1 79542 1.2572E-5 39771 0 NA
18-14748458-G-A p.Gly14Ser missense ANKRD30B 1 79604 1.25622E-5 39802 0 2.74556E-5
18-14748463-G-T p.Pro15Pro synonymous ANKRD30B 45 79580 5.65469E-4 39790 0 0.00120482
18-14748467-C-A p.Pro17Thr missense ANKRD30B 1 79568 1.25679E-5 39784 0 NA
18-14748469-C-T p.Pro17Pro synonymous ANKRD30B 2 79678 2.5101E-5 39839 0 NA
18-14748473-A-C p.Asn19His missense ANKRD30B 1 79640 1.25565E-5 39820 0 NA
18-14748474-A-G p.Asn19Ser missense ANKRD30B 34 79716 4.26514E-4 39858 0 4.77612E-4
18-14748476-C-A p.Pro20Thr missense ANKRD30B 2 79772 2.50715E-5 39886 0 6.53142E-6
18-14748512-G-C p.Gly32Arg missense ANKRD30B 1 79946 1.25084E-5 39973 0 3.18715E-5
18-14748512-G-A p.Gly32Arg missense ANKRD30B 2 79946 2.50169E-5 39973 0 NA
18-14748525-TC-T p.Phe36fs frameshift ANKRD30B 16 79974 2.00065E-4 39987 0 5.17063E-4
18-14748530-G-A p.Asp38Asn missense ANKRD30B 4 80034 4.99788E-5 40017 0 9.42418E-5
18-14748536-G-A p.Gly40Arg missense ANKRD30B 2 80066 2.49794E-5 40033 0 NA
18-14748538-G-A p.Gly40Gly synonymous ANKRD30B 1 80052 1.24919E-5 40026 0 NA
18-14748541-G-A p.Lys41Lys synonymous ANKRD30B 1 80086 1.24866E-5 40043 0 NA
18-14748548-A-G p.Thr44Ala missense ANKRD30B 1 80108 1.24831E-5 40054 0 NA
18-14748560-C-A p.Arg48Arg synonymous ANKRD30B 1 80108 1.24831E-5 40054 0 0.00203252
18-14748560-C-T p.Arg48Trp missense ANKRD30B 3 80106 3.74504E-5 40053 0 4.43695E-5
18-14748569-G-A p.Val51Ile missense ANKRD30B 2 80146 2.49545E-5 40073 0 NA
18-14748571-C-G p.Val51Val synonymous ANKRD30B 1 80148 1.24769E-5 40074 0 9.56328E-5
18-14748574-G-A p.Gln52Gln synonymous ANKRD30B 1 80144 1.24775E-5 40072 0 NA
18-14748578-C-A p.Leu54Met missense ANKRD30B 10 80124 1.24807E-4 40062 0 4.14514E-4
18-14748607-C-G p.Pro63Pro synonymous ANKRD30B 2 80050 2.49844E-5 40025 0 NA
18-14748613-C-G p.Asn65Lys missense ANKRD30B 1 79984 1.25025E-5 39992 0 NA
18-14748615-T-A p.Leu66Gln missense ANKRD30B 1 79998 1.25003E-5 39999 0 4.49357E-5
18-14748627-A-G p.Asp70Gly missense ANKRD30B 1 79888 1.25175E-5 39944 0 NA
18-14748630-TGAA-T p.Lys73del disruptive_inframe_deletion ANKRD30B 4 79864 5.00851E-5 39932 0 1.17632E-5
18-14748630-T-C p.Met71Thr missense ANKRD30B 1 79866 1.2521E-5 39933 0 4.80631E-5
18-14748632-A-C p.Lys72Gln missense ANKRD30B 2 79866 2.50419E-5 39933 0 5.94806E-6
18-14748632-A-G p.Lys72Glu missense ANKRD30B 1 79866 1.2521E-5 39933 0 NA
18-14748635-A-G p.Lys73Glu missense ANKRD30B 1 79820 1.25282E-5 39910 0 3.18837E-5
18-14752560-C-T c.222-5C>T splice_region ANKRD30B 8 80166 9.97929E-5 40083 0 6.37146E-5
18-14752561-G-A c.222-4G>A splice_region ANKRD30B 5 80158 6.23768E-5 40079 0 6.32631E-5
18-14752561-G-C c.222-4G>C splice_region ANKRD30B 2 80158 2.49507E-5 40079 0 NA
18-14752575-C-T p.His78Tyr missense ANKRD30B 6 80212 7.48018E-5 40106 0 1.31114E-4
18-14752591-A-C p.Asn83Thr missense ANKRD30B 1 80252 1.24607E-5 40126 0 NA
18-14752601-A-G p.Ala86Ala synonymous ANKRD30B 511 80234 0.00636887 40117 1 0.00631228
18-14752613-A-C p.Thr90Thr synonymous ANKRD30B 3 80242 3.73869E-5 40121 0 2.03264E-5
18-14752621-T-C p.Val93Ala missense ANKRD30B 1 80226 1.24648E-5 40113 0 4.06405E-6
18-14752625-C-T p.Asp94Asp synonymous ANKRD30B 2 80212 2.49339E-5 40106 0 3.23025E-5
18-14752625-CAGAA-C p.Arg95fs frameshift ANKRD30B 2 80212 2.49339E-5 40106 0 NA
18-14752632-T-G p.Cys97Gly missense ANKRD30B 3 80168 3.74214E-5 40084 0 0.00106496
18-14752641-A-G p.Asn100Asp missense ANKRD30B 1 80142 1.24779E-5 40071 0 1.14529E-5
18-14752655-C-T p.Gly104Gly synonymous ANKRD30B 34 80044 4.24766E-4 40022 0 6.25E-4
18-14752656-G-A p.Glu105Lys missense ANKRD30B 1 80060 1.24906E-5 40030 0 1.26218E-5
18-14752659-G-A p.Gly106Arg missense ANKRD30B 1 80074 1.24884E-5 40037 0 2.55846E-5
18-14752668-C-T p.Pro109Ser missense ANKRD30B 4 80078 4.99513E-5 40039 0 4.3086E-6
18-14752831-C-A c.337-7C>A splice_region ANKRD30B 1 80920 1.23579E-5 40460 0 NA
18-14752832-T-C c.337-6T>C splice_region ANKRD30B 1 80932 1.23561E-5 40466 0 4.1908E-6
18-14752837-G-A c.337-1G>A splice_acceptor ANKRD30B 2 80948 2.47072E-5 40474 1 NA
18-14752841-C-G p.Leu114Val missense ANKRD30B 3 80956 3.70572E-5 40478 0 NA
18-14752849-C-T p.Cys116Cys synonymous ANKRD30B 56 80974 6.9158E-4 40487 1 0.00605449
18-14752850-G-A p.Glu117Lys missense ANKRD30B 2 80976 2.46987E-5 40488 0 1.65507E-5
18-14752863-G-A p.Cys121Tyr missense ANKRD30B 1 80974 1.23496E-5 40487 0 1.64628E-5
18-14752863-G-C p.Cys121Ser missense ANKRD30B 1 80974 1.23496E-5 40487 0 NA
18-14752882-T-A p.Asp127Glu missense ANKRD30B 2 80976 2.46987E-5 40488 0 1.01418E-4
18-14752883-G-T p.Ala128Ser missense ANKRD30B 1 80980 1.23487E-5 40490 0 NA
18-14752909-T-C p.Asp136Asp synonymous ANKRD30B 2 80960 2.47036E-5 40480 0 1.14784E-5
18-14752910-G-A p.Val137Met missense ANKRD30B 1 80962 1.23515E-5 40481 0 2.30091E-5
18-14752915-T-C p.Tyr138Tyr synonymous ANKRD30B 1 80956 1.23524E-5 40478 0 NA
18-14752917-G-A p.Gly139Asp missense ANKRD30B 2 80960 2.47036E-5 40480 0 NA
18-14752923-C-T p.Thr141Met missense ANKRD30B 2 80946 2.47078E-5 40473 0 7.28551E-5
18-14752923-C-G p.Thr141Arg missense ANKRD30B 1 80946 1.23539E-5 40473 0 6.25E-4
18-14752936-T-C p.Tyr145Tyr synonymous ANKRD30B 3 80930 3.70691E-5 40465 0 2.33487E-5
18-14752939-C-T p.Ala146Ala synonymous ANKRD30B 6 80938 7.41308E-5 40469 0 1.17625E-5
18-14752939-C-A p.Ala146Ala synonymous ANKRD30B 1 80938 1.23551E-5 40469 0 4.32175E-6
18-14752940-G-A p.Val147Ile missense ANKRD30B 2 80932 2.47121E-5 40466 0 4.70621E-5
18-14752949-G-A p.Glu150Lys missense ANKRD30B 2 80926 2.47139E-5 40463 0 NA
18-14752957-G-A p.Leu152Leu synonymous ANKRD30B 38701 80650 0.479864 40325 9348 0.52975
18-14752961-A-G p.Met154Val missense ANKRD30B 5 80910 6.17971E-5 40455 0 2.56246E-4
18-14752962-T-C p.Met154Thr missense ANKRD30B 1 80902 1.23606E-5 40451 0 NA
18-14752967-G-A p.Ala156Thr missense ANKRD30B 1 80890 1.23625E-5 40445 0 NA
18-14752976-C-T p.Leu159Leu synonymous ANKRD30B 18 80898 2.22502E-4 40449 0 2.86642E-4
18-14752986-G-A p.Gly162Asp missense ANKRD30B 18 80876 2.22563E-4 40438 0 2.5481E-4
18-14752990-A-G p.Ala163Ala synonymous ANKRD30B 1 80866 1.23661E-5 40433 0 3.18451E-5
18-14752993-C-T p.Val164Val synonymous ANKRD30B 1 80810 1.23747E-5 40405 0 NA
18-14752996-C-T p.Ile165Ile synonymous ANKRD30B 47 80772 5.81885E-4 40386 0 8.92459E-4
18-14752997-G-A p.Glu166Lys missense ANKRD30B 3 80762 3.71462E-5 40381 0 4.46495E-5
18-14753008-C-G p.Asn169Lys missense ANKRD30B 1 80648 1.23996E-5 40324 0 1.61582E-5
18-14753010-AG-A p.Val167fs frameshift ANKRD30B 1 80614 1.24048E-5 40307 0 5.06073E-4
18-14754893-T-A c.511-5T>A splice_region ANKRD30B 3 79030 3.79603E-5 39515 0 3.18471E-5
18-14754898-G-C p.Ala171Pro missense+splice_region ANKRD30B 1 79352 1.26021E-5 39676 0 NA
18-14754898-G-A p.Ala171Thr missense+splice_region ANKRD30B 1 79352 1.26021E-5 39676 0 NA
18-14754944-A-C p.Gln186Pro missense ANKRD30B 5 80260 6.22975E-5 40130 0 0.00101626
18-14754947-CTG-C p.Val188fs frameshift ANKRD30B 2 80258 2.49196E-5 40129 0 7.33891E-5
18-14754949-G-C p.Val188Leu missense ANKRD30B 2 80240 2.49252E-5 40120 0 NA
18-14754949-G-GTGGAA p.Phe190fs frameshift ANKRD30B 1 80240 1.24626E-5 40120 0 NA
18-14754955-T-A p.Phe190Ile missense ANKRD30B 2 80236 2.49265E-5 40118 0 5.81727E-6
18-14754964-A-G p.Thr193Ala missense ANKRD30B 39 80114 4.86806E-4 40057 0 5.86717E-4
18-14754968-A-AAAATGC p.Asn199_Ala200insAlaAsn disruptive_inframe_insertion ANKRD30B 18 80098 2.24725E-4 40049 0 4.13934E-4
18-14754979-G-GCAAATT p.Asn199_Ala200insSerAsn disruptive_inframe_insertion ANKRD30B 1 79864 1.25213E-5 39932 0 1.31091E-5
18-14754984-C-T p.Asn199Asn synonymous ANKRD30B 26 79712 3.26174E-4 39856 0 0.00204499
18-14754985-G-A p.Ala200Thr missense ANKRD30B 1 79722 1.25436E-5 39861 0 4.36338E-5
18-14754997-T-A p.Ser204Thr missense ANKRD30B 3 79250 3.78549E-5 39625 0 3.18898E-5
18-14755005-G-C c.617+1G>C splice_donor ANKRD30B 1 78410 1.27535E-5 39205 0 NA
18-14755008-T-C c.617+4T>C splice_region ANKRD30B 1 77794 1.28545E-5 38897 0 NA
18-14755011-T-C c.617+7T>C splice_region ANKRD30B 1 77674 1.28743E-5 38837 0 6.27353E-4
18-14757817-A-G p.Thr207Thr synonymous ANKRD30B 1 80868 1.23658E-5 40434 0 1.21634E-5
18-14757825-T-C p.Met210Thr missense ANKRD30B 3 80880 3.7092E-5 40440 0 4.02826E-6
18-14757828-T-C p.Leu211Pro missense ANKRD30B 2 80890 2.47249E-5 40445 0 1.70683E-5
18-14757855-T-C p.Ile220Thr missense ANKRD30B 1 80906 1.236E-5 40453 0 NA
18-14757860-G-A p.Gly222Ser missense ANKRD30B 1 80894 1.23619E-5 40447 0 6.25E-4
18-14757860-G-T p.Gly222Cys missense ANKRD30B 1 80894 1.23619E-5 40447 0 NA
18-14757874-G-A p.Gln226Gln synonymous ANKRD30B 1 80902 1.23606E-5 40451 0 3.1839E-5
18-14757880-T-C p.Asn228Asn synonymous ANKRD30B 1 80916 1.23585E-5 40458 0 3.22188E-5
18-14757887-G-A p.Val231Ile missense ANKRD30B 10 80900 1.23609E-4 40450 0 1.41861E-4
18-14757896-G-T p.Glu234* stop_gained ANKRD30B 1 80908 1.23597E-5 40454 0 NA
18-14757901-C-T p.Asp235Asp synonymous ANKRD30B 1 80906 1.236E-5 40453 0 1.11401E-5
18-14757917-G-C p.Ala241Pro missense ANKRD30B 1 80896 1.23616E-5 40448 0 1.27466E-5
18-14757923-C-T p.Arg243Cys missense ANKRD30B 1 80882 1.23637E-5 40441 0 6.76993E-5
18-14757935-G-T p.Ala247Ser missense ANKRD30B 4 80864 4.94658E-5 40432 0 1.09759E-4
18-14757956-G-T c.755+5G>T splice_region ANKRD30B 1 80772 1.23805E-5 40386 0 NA
18-14760549-A-G c.756-4A>G splice_region ANKRD30B 1 76216 1.31206E-5 38108 0 NA
18-14760552-G-A c.756-1G>A splice_acceptor ANKRD30B 1 76316 1.31034E-5 38158 0 3.1904E-5
18-14760561-A-G p.Gln255Arg missense ANKRD30B 2 76584 2.61151E-5 38292 0 7.10227E-6
18-14760575-C-G p.His260Asp missense ANKRD30B 2 76816 2.60362E-5 38408 0 NA
18-14760577-T-C p.His260His synonymous ANKRD30B 3 76888 3.90178E-5 38444 0 1.37103E-5
18-14760582-G-A p.Arg262Gln missense ANKRD30B 2 76882 2.60139E-5 38441 0 6.38407E-5
18-14760583-A-G p.Arg262Arg synonymous ANKRD30B 1 76958 1.29941E-5 38479 0 3.18695E-5
18-14760607-T-C p.Asn270Asn synonymous ANKRD30B 1 76808 1.30195E-5 38404 0 6.65097E-6
18-14760614-C-T p.Pro273Ser missense ANKRD30B 6 76880 7.80437E-5 38440 0 6.106E-5
18-14760618-G-A c.820+1G>A splice_donor ANKRD30B 1 76788 1.30229E-5 38394 0 NA
18-14760625-T-G c.820+8T>G splice_region ANKRD30B 1 76672 1.30426E-5 38336 0 NA
18-14763690-A-G p.Thr276Ala missense ANKRD30B 2 80954 2.47054E-5 40477 0 NA
18-14763707-T-C p.Pro281Pro synonymous ANKRD30B 2 81016 2.46865E-5 40508 0 8.726E-6
18-14763711-G-A p.Glu283Lys missense ANKRD30B 9 81026 1.11075E-4 40513 0 6.36862E-5
18-14763726-G-A p.Ala288Thr missense ANKRD30B 2 81068 2.46706E-5 40534 0 3.18471E-5
18-14763727-C-T p.Ala288Val missense ANKRD30B 1 81070 1.2335E-5 40535 0 1.60728E-5
18-14763728-G-A p.Ala288Ala synonymous ANKRD30B 5 81068 6.16766E-5 40534 0 3.41787E-5
18-14763729-G-T p.Glu289* stop_gained ANKRD30B 3 81070 3.70051E-5 40535 0 NA
18-14763738-C-T p.Pro292Ser missense ANKRD30B 1 81082 1.23332E-5 40541 0 8.51629E-6
18-14763745-C-T p.Thr294Met missense ANKRD30B 243 81080 0.00299704 40540 0 0.00286945
18-14763746-G-A p.Thr294Thr synonymous ANKRD30B 4 81090 4.93279E-5 40545 0 3.40414E-5
18-14763749-T-G p.Ala295Ala synonymous ANKRD30B 1 81090 1.2332E-5 40545 0 1.70103E-5
18-14763752-A-C p.Glu296Asp missense ANKRD30B 2 81092 2.46633E-5 40546 0 3.40084E-5
18-14763767-A-G p.Lys301Lys synonymous ANKRD30B 5 81098 6.16538E-5 40549 0 1.27413E-4
18-14763774-G-A p.Asp304Asn missense ANKRD30B 8 81100 9.86436E-5 40550 0 1.27405E-4
18-14763776-C-T p.Asp304Asp synonymous ANKRD30B 16 81098 1.97292E-4 40549 1 0.00125
18-14763786-C-T p.Arg308Cys missense ANKRD30B 4 81096 4.93243E-5 40548 0 6.25E-4
18-14763786-C-A p.Arg308Ser missense ANKRD30B 1 81096 1.23311E-5 40548 0 3.18532E-5
18-14763787-G-A p.Arg308His missense ANKRD30B 2 81096 2.46621E-5 40548 0 8.64394E-6
18-14763792-G-C p.Val310Leu missense ANKRD30B 1 81094 1.23314E-5 40547 0 NA
18-14763801-A-G p.Thr313Ala missense ANKRD30B 1 81096 1.23311E-5 40548 0 NA
18-14763802-C-T p.Thr313Met missense ANKRD30B 5 81098 6.16538E-5 40549 0 8.79183E-5
18-14763803-G-A p.Thr313Thr synonymous ANKRD30B 8 81092 9.86534E-5 40546 0 9.56084E-5
18-14763805-C-T p.Ser314Phe missense ANKRD30B 2 81092 2.46633E-5 40546 0 1.05746E-4
18-14763821-T-C p.Cys319Cys synonymous ANKRD30B 1 81090 1.2332E-5 40545 0 NA
18-14763829-A-G p.Lys322Arg missense ANKRD30B 2 81086 2.46652E-5 40543 0 NA
18-14763837-T-G p.Ser325Ala missense ANKRD30B 1 81088 1.23323E-5 40544 0 NA
18-14763844-A-C p.Lys327Thr missense ANKRD30B 1 81084 1.23329E-5 40542 0 NA
18-14763845-G-T p.Lys327Asn missense ANKRD30B 1 81084 1.23329E-5 40542 0 8.11583E-6
18-14763847-T-C p.Phe328Ser missense ANKRD30B 1 81080 1.23335E-5 40540 0 4.05439E-6
18-14763879-AT-A p.Leu340fs frameshift ANKRD30B 1 81058 1.23368E-5 40529 0 NA
18-14763901-C-T p.Thr346Ile missense ANKRD30B 1 81008 1.23445E-5 40504 0 3.09164E-5
18-14763911-A-C p.Lys349Asn missense ANKRD30B 4 80994 4.93864E-5 40497 0 3.18451E-5
18-14763913-T-A p.Phe350Tyr missense ANKRD30B 11 80978 1.35839E-4 40489 0 1.36952E-4
18-14763919-G-A p.Trp352* stop_gained ANKRD30B 6 80956 7.41143E-5 40478 0 1.59816E-4
18-14763921-C-CAAAAGA p.Pro353delinsGlnLysThr disruptive_inframe_insertion ANKRD30B 2 80954 2.47054E-5 40477 0 5.38677E-5
18-14763922-C-A p.Pro353Gln missense ANKRD30B 2 80960 2.47036E-5 40480 0 5.39875E-5
18-14763949-C-T p.Thr362Ile missense ANKRD30B 2 80872 2.47304E-5 40436 0 4.18708E-6
18-14763956-G-T p.Glu364Asp missense ANKRD30B 3 80852 3.71048E-5 40426 0 8.45273E-6
18-14763956-G-A p.Glu364Glu synonymous ANKRD30B 1 80852 1.23683E-5 40426 0 1.21729E-5
18-14763966-A-G p.Thr368Ala missense ANKRD30B 2 80798 2.47531E-5 40399 0 5.08375E-5
18-14763980-T-C p.Thr372Thr synonymous ANKRD30B 1 80716 1.23891E-5 40358 0 NA
18-14763986-C-T p.Cys374Cys synonymous ANKRD30B 2 80676 2.47905E-5 40338 0 1.13068E-4
18-14763987-G-A p.Val375Met missense ANKRD30B 595 80670 0.00737573 40335 14 0.0164919
18-14763990-G-A p.Ala376Thr missense ANKRD30B 1 80692 1.23928E-5 40346 0 4.46213E-6
18-14763992-A-G p.Ala376Ala synonymous ANKRD30B 13 80694 1.61102E-4 40347 2 0.00129485
18-14763996-G-T p.Val378Leu missense ANKRD30B 2 80662 2.47948E-5 40331 0 1.4937E-5
18-14764000-C-A p.Thr379Lys missense ANKRD30B 4 80658 4.95921E-5 40329 0 3.08632E-5
18-14764000-C-T p.Thr379Ile missense ANKRD30B 1 80658 1.2398E-5 40329 0 4.62949E-5
18-14764008-A-G p.Lys382Glu missense ANKRD30B 4 80640 4.96032E-5 40320 0 NA
18-14764029-G-A p.Gly389Arg missense ANKRD30B 1 80598 1.24073E-5 40299 0 5.10777E-6
18-14764033-C-T p.Thr390Ile missense ANKRD30B 1 80616 1.24045E-5 40308 0 1.89208E-5
18-14764041-A-G p.Met393Val missense ANKRD30B 1 80564 1.24125E-5 40282 0 NA
18-14764059-A-G p.Lys399Glu missense ANKRD30B 1 80538 1.24165E-5 40269 0 1.27356E-4
18-14764065-A-G p.Thr401Ala missense ANKRD30B 1 80508 1.24211E-5 40254 0 NA
18-14764067-A-G p.Thr401Thr synonymous ANKRD30B 1 80510 1.24208E-5 40255 0 NA
18-14764073-A-G p.Thr403Thr synonymous ANKRD30B 19 80454 2.3616E-4 40227 0 1.30965E-4
18-14764077-G-A p.Ala405Thr missense ANKRD30B 3 80440 3.72949E-5 40220 0 NA
18-14764078-C-G p.Ala405Gly missense ANKRD30B 2 80426 2.48676E-5 40213 0 1.34427E-5
18-14764082-T-C p.Ser406Ser synonymous ANKRD30B 2 80342 2.48936E-5 40171 0 7.08687E-6
18-14764087-A-G p.Asn408Ser missense+splice_region ANKRD30B 26 80288 3.23834E-4 40144 0 5.41401E-4
18-14764087-A-ATGGTAAGATGCTTGAG p.Met393fs frameshift ANKRD30B 2 80288 2.49103E-5 40144 0 NA
18-14764089-G-A p.Val409Met missense+splice_region ANKRD30B 1 80234 1.24635E-5 40117 0 NA
18-14764092-A-G c.1225+3A>G splice_region ANKRD30B 6 80174 7.48372E-5 40087 0 6.3674E-5
18-14769338-A-C c.1226-4A>C splice_region ANKRD30B 1 77870 1.28419E-5 38935 0 6.39918E-5
18-14769348-T-A p.Val411Glu missense ANKRD30B 9 78122 1.15204E-4 39061 0 9.55049E-5
18-14769363-C-T p.Pro416Leu missense ANKRD30B 1 78222 1.27841E-5 39111 0 1.4828E-4
18-14769379-CTT-C c.1256+8_1256+9delTT splice_region ANKRD30B 1 78190 1.27894E-5 39095 0 3.18613E-5
18-14772164-C-T p.Gly422Gly synonymous ANKRD30B 3 77728 3.85961E-5 38864 0 3.1904E-5
18-14772169-G-A p.Arg424Gln missense ANKRD30B 2 77616 2.57679E-5 38808 0 4.51182E-5
18-14772170-G-A p.Arg424Arg synonymous ANKRD30B 4 77682 5.1492E-5 38841 0 1.38251E-5
18-14772172-C-G p.Thr425Ser missense ANKRD30B 1 77632 1.28813E-5 38816 0 NA
18-14772175-T-C p.Ile426Thr missense ANKRD30B 181 77744 0.00232815 38872 1 0.0028353
18-14772176-T-C p.Ile426Ile synonymous ANKRD30B 44 77776 5.65727E-4 38888 1 0.00251256
18-14772189-T-C p.Cys431Arg missense ANKRD30B 1 77876 1.28409E-5 38938 0 3.18654E-5
18-14772191-T-C p.Cys431Cys synonymous ANKRD30B 2 77928 2.56647E-5 38964 0 NA
18-14772209-C-G p.Asp437Glu missense ANKRD30B 8 77784 1.02849E-4 38892 0 6.91974E-6
18-14772214-A-G p.Asn439Ser missense ANKRD30B 1 77652 1.2878E-5 38826 0 NA
18-14772221-T-C p.Ala441Ala synonymous ANKRD30B 1 77502 1.29029E-5 38751 0 NA
18-14772229-TAA-T c.1329+3_1329+4delAA splice_region ANKRD30B 1 77352 1.29279E-5 38676 0 NA
18-14772234-T-C c.1329+7T>C splice_region ANKRD30B 1 77236 1.29473E-5 38618 0 3.18654E-5
18-14777984-A-G p.Ile444Val missense+splice_region ANKRD30B 1 79458 1.25853E-5 39729 0 6.67619E-6
18-14777986-T-C p.Ile444Ile splice_region+synonymous ANKRD30B 1 79464 1.25843E-5 39732 0 NA
18-14777997-G-A p.Ser448Asn missense ANKRD30B 1 79602 1.25625E-5 39801 0 NA
18-14777997-G-T p.Ser448Ile missense ANKRD30B 2 79602 2.5125E-5 39801 0 1.29249E-5
18-14778002-G-A p.Ala450Thr missense ANKRD30B 2 79644 2.51117E-5 39822 0 1.93199E-5
18-14778014-A-T p.Thr454Ser missense ANKRD30B 1 79704 1.25464E-5 39852 0 NA
18-14778015-C-T p.Thr454Met missense ANKRD30B 6 79670 7.53107E-5 39835 0 6.25E-4
18-14778016-G-GTGTT p.Pro457fs frameshift ANKRD30B 3 79684 3.76487E-5 39842 0 NA
18-14778016-G-A p.Thr454Thr synonymous ANKRD30B 2 79682 2.50998E-5 39841 0 3.20607E-5
18-14778034-A-T p.Thr460Thr synonymous ANKRD30B 1 79716 1.25445E-5 39858 0 NA
18-14778034-A-G p.Thr460Thr synonymous ANKRD30B 1 79716 1.25445E-5 39858 0 NA
18-14778037-T-A p.Tyr461* stop_gained ANKRD30B 1 79690 1.25486E-5 39845 0 NA
18-14778068-A-G p.Ile472Val missense ANKRD30B 3 79356 3.78043E-5 39678 0 NA
18-14778080-A-T c.1420+6A>T splice_region ANKRD30B 13 79030 1.64495E-4 39515 0 1.91046E-4
18-14779951-A-AT c.1421-8_1421-7insT splice_region ANKRD30B 1 79570 1.25676E-5 39785 0 NA
18-14779958-G-A c.1421-1G>A splice_acceptor ANKRD30B 1 79662 1.2553E-5 39831 0 1.70745E-5
18-14779969-C-G p.Phe477Leu missense ANKRD30B 40361 79252 0.509274 39626 10339 0.468334
18-14779975-A-G p.Ser479Ser synonymous ANKRD30B 2 79918 2.50257E-5 39959 0 8.36106E-6
18-14779983-A-T p.Lys482Ile missense ANKRD30B 1 79948 1.25081E-5 39974 0 NA
18-14779985-C-T p.Arg483* stop_gained ANKRD30B 1 79906 1.25147E-5 39953 0 6.69624E-5
18-14779986-G-A p.Arg483Gln missense ANKRD30B 1 79896 1.25163E-5 39948 0 0.314833
18-14779989-A-G p.Glu484Gly missense ANKRD30B 1 79954 1.25072E-5 39977 0 4.05124E-6
18-14779995-A-T p.Asp486Val missense ANKRD30B 2 79912 2.50275E-5 39956 0 NA
18-14780003-T-C p.Tyr489His missense ANKRD30B 6 79890 7.51033E-5 39945 0 7.55769E-5
18-14780007-C-T p.Ser490Phe missense ANKRD30B 4 79892 5.00676E-5 39946 0 7.06262E-4
18-14782527-G-A p.Ser495Asn missense+splice_region ANKRD30B 1 78874 1.26784E-5 39437 0 NA
18-14782531-CTT-C p.Phe497fs frameshift ANKRD30B 1 79152 1.26339E-5 39576 0 NA
18-14782537-G-C p.Glu498Asp missense ANKRD30B 1 79258 1.2617E-5 39629 0 NA
18-14782539-G-A p.Ser499Asn missense ANKRD30B 6 79306 7.56563E-5 39653 0 3.84497E-5
18-14782550-A-G p.Thr503Ala missense ANKRD30B 2 79444 2.5175E-5 39722 0 1.30022E-5
18-14782574-A-G p.Met511Val missense ANKRD30B 1 79186 1.26285E-5 39593 0 NA
18-14782594-GATAA-G p.Asn519fs frameshift ANKRD30B 6 79034 7.59167E-5 39517 0 5.25045E-5
18-14782599-A-G p.Asn519Ser missense ANKRD30B 4 78962 5.06573E-5 39481 0 NA
18-14782607-G-C p.Val522Leu missense ANKRD30B 3 78750 3.80952E-5 39375 0 NA
18-14782607-G-T p.Val522Leu missense ANKRD30B 4 78750 5.07936E-5 39375 0 1.01438E-5
18-14784341-C-T p.Pro526Leu missense ANKRD30B 1 80498 1.24227E-5 40249 0 8.58974E-6
18-14784342-T-C p.Pro526Pro synonymous ANKRD30B 2 80496 2.4846E-5 40248 0 3.18552E-5
18-14784348-G-T p.Lys528Asn missense ANKRD30B 2 80476 2.48521E-5 40238 0 9.55597E-5
18-14784349-C-T p.Pro529Ser missense ANKRD30B 1 80466 1.24276E-5 40233 0 6.25E-4
18-14784360-C-T p.Phe532Phe synonymous ANKRD30B 47 80446 5.84243E-4 40223 0 6.03102E-4
18-14784363-G-A p.Lys533Lys splice_region+synonymous ANKRD30B 1 80414 1.24356E-5 40207 0 NA
18-14784364-GTATT-G c.1599+2_1599+5delTATT splice_donor ANKRD30B 1 80404 1.24372E-5 40202 0 NA
18-14784467-C-T p.Ala535Ala synonymous ANKRD30B 36 79454 4.53092E-4 39727 0 4.17728E-4
18-14784468-G-A p.Val536Ile missense ANKRD30B 39 79442 4.90924E-4 39721 0 0.00149428
18-14784478-A-G p.Gln539Arg missense ANKRD30B 2 79426 2.51807E-5 39713 0 NA
18-14784481-A-C p.Lys540Thr missense ANKRD30B 2 79428 2.518E-5 39714 0 4.01648E-6
18-14784482-G-T p.Lys540Asn missense ANKRD30B 2 79428 2.518E-5 39714 0 9.99334E-5
18-14784502-T-C p.Phe547Ser missense ANKRD30B 1 79392 1.25957E-5 39696 0 NA
18-14784515-T-C p.Asn551Asn synonymous ANKRD30B 3 79370 3.77977E-5 39685 0 3.33706E-5
18-14784522-A-G p.Thr554Ala missense ANKRD30B 1 79354 1.26018E-5 39677 0 NA
18-14784524-A-G p.Thr554Thr synonymous ANKRD30B 1 79340 1.2604E-5 39670 0 4.02075E-6
18-14784527-G-A p.Leu555Leu synonymous ANKRD30B 2 79342 2.52073E-5 39671 0 NA
18-14784531-G-A p.Ala557Thr missense ANKRD30B 2 79320 2.52143E-5 39660 0 3.18613E-5
18-14784532-C-A p.Ala557Glu missense+splice_region ANKRD30B 1 79318 1.26075E-5 39659 0 NA
18-14787045-G-A p.Met560Ile missense ANKRD30B 1 79962 1.25059E-5 39981 0 6.25E-4
18-14787050-C-G p.Pro562Arg missense ANKRD30B 1 79990 1.25016E-5 39995 0 NA
18-14787060-C-T p.Ser565Ser synonymous ANKRD30B 4 79980 5.00125E-5 39990 0 3.18735E-5
18-14787070-G-T p.Asp569Tyr missense ANKRD30B 1 79978 1.25034E-5 39989 0 8.47788E-6
18-14787072-C-T p.Asp569Asp synonymous ANKRD30B 7 79926 8.7581E-5 39963 0 6.25E-4
18-14787073-G-A p.Asp570Asn missense ANKRD30B 5 79958 6.25328E-5 39979 0 6.04137E-5
18-14787075-T-C p.Asp570Asp synonymous ANKRD30B 1 79996 1.25006E-5 39998 0 3.1839E-5
18-14787099-G-A p.Glu578Glu splice_region+synonymous ANKRD30B 1 79956 1.25069E-5 39978 0 4.04433E-6
18-14787101-T-A c.1734+2T>A splice_donor ANKRD30B 2 79976 2.50075E-5 39988 0 1.72384E-5
18-14787102-A-C c.1734+3A>C splice_region ANKRD30B 4 79932 5.00425E-5 39966 0 8.14047E-6
18-14791397-C-T c.1735-3C>T splice_region ANKRD30B 1 79498 1.25789E-5 39749 0 3.18654E-5
18-14791411-G-C p.Glu582Asp missense ANKRD30B 1 79886 1.25178E-5 39943 0 9.55718E-5
18-14791413-C-T p.Thr583Met missense ANKRD30B 13 79880 1.62744E-4 39940 0 5.10204E-4
18-14791414-G-A p.Thr583Thr synonymous ANKRD30B 2 79954 2.50144E-5 39977 0 8.37325E-6
18-14791415-G-A p.Val584Ile missense ANKRD30B 1 80000 1.25E-5 40000 0 NA
18-14791425-A-C p.Lys587Thr missense ANKRD30B 1 80164 1.24744E-5 40082 0 8.1316E-6
18-14791430-G-A p.Val589Met missense ANKRD30B 1 80218 1.2466E-5 40109 0 4.04944E-6
18-14791431-T-C p.Val589Ala missense ANKRD30B 1 80222 1.24654E-5 40111 0 NA
18-14791432-G-A p.Val589Val synonymous ANKRD30B 1 80226 1.24648E-5 40113 0 8.35869E-6
18-14791446-C-T p.Ala594Val missense ANKRD30B 9 80344 1.12018E-4 40172 0 6.87408E-5
18-14791446-C-G p.Ala594Gly missense ANKRD30B 1 80344 1.24465E-5 40172 0 NA
18-14791450-A-T p.Thr595Thr synonymous ANKRD30B 1 80364 1.24434E-5 40182 0 NA
18-14791451-C-T p.His596Tyr missense ANKRD30B 3 80376 3.73246E-5 40188 0 NA
18-14791452-A-G p.His596Arg missense ANKRD30B 1 80364 1.24434E-5 40182 0 4.04632E-6
18-14791453-T-G p.His596Gln missense ANKRD30B 2 80346 2.48923E-5 40173 0 3.18552E-5
18-14791456-A-G p.Gln597Gln synonymous ANKRD30B 2 80362 2.48874E-5 40181 0 3.18431E-5
18-14791460-G-T p.Glu599* stop_gained ANKRD30B 4 80354 4.97797E-5 40177 0 3.10496E-4
18-14791465-C-A p.Phe600Leu missense ANKRD30B 46 80324 5.72681E-4 40162 0 3.28643E-4
18-14791465-C-T p.Phe600Phe synonymous ANKRD30B 7 80326 8.71449E-5 40163 0 6.49171E-5
18-14791466-G-A p.Asp601Asn missense ANKRD30B 3 80322 3.73497E-5 40161 0 5.06073E-4
18-14791466-G-C p.Asp601His missense ANKRD30B 1 80322 1.24499E-5 40161 0 4.06729E-6
18-14791468-T-C p.Asp601Asp synonymous ANKRD30B 2 80294 2.49085E-5 40147 0 2.52751E-5
18-14791470-C-A p.Thr602Asn missense ANKRD30B 1 80318 1.24505E-5 40159 0 3.18959E-5
18-14791475-A-C p.Ser604Arg missense ANKRD30B 3 80312 3.73543E-5 40156 0 3.18593E-5
18-14791477-T-C p.Ser604Ser synonymous ANKRD30B 1 80290 1.24549E-5 40145 0 1.23101E-5
18-14791484-T-C p.Leu607Leu synonymous ANKRD30B 3 80190 3.74111E-5 40095 0 NA
18-14791491-G-C c.1825+1G>C splice_donor ANKRD30B 1 80088 1.24863E-5 40044 0 NA
18-14791493-A-T c.1825+3A>T splice_region ANKRD30B 2 80030 2.49906E-5 40015 0 NA
18-14791495-G-C c.1825+5G>C splice_region ANKRD30B 1 79970 1.25047E-5 39985 0 6.14887E-5
18-14791498-C-A c.1825+8C>A splice_region ANKRD30B 1 79864 1.25213E-5 39932 0 8.85692E-6
18-14796212-A-T c.1826-8A>T splice_region ANKRD30B 39 79126 4.92885E-4 39563 0 6.3743E-4
18-14796213-C-T c.1826-7C>T splice_region ANKRD30B 1 79136 1.26365E-5 39568 0 1.66744E-5
18-14796214-G-T c.1826-6G>T splice_region ANKRD30B 40004 75878 0.527215 37939 10546 0.579558
18-14796214-G-A c.1826-6G>A splice_region ANKRD30B 9 79142 1.1372E-4 39571 0 9.58528E-5
18-14796219-G-A c.1826-1G>A splice_acceptor ANKRD30B 1 79162 1.26323E-5 39581 0 NA
18-14796222-T-A p.Ser610Thr missense+splice_region ANKRD30B 50 79184 6.31441E-4 39592 0 9.87702E-4
18-14796225-C-T p.Pro611Ser missense ANKRD30B 1 79198 1.26266E-5 39599 0 NA
18-14796229-T-A p.Val612Asp missense ANKRD30B 4 79200 5.05051E-5 39600 0 4.02544E-5
18-14796235-A-C p.Asp614Ala missense ANKRD30B 1 79220 1.26231E-5 39610 0 NA
18-14796236-T-C p.Asp614Asp synonymous ANKRD30B 183 79216 0.00231014 39608 0 0.00429975
18-14796238-G-T p.Gly615Val missense ANKRD30B 2 79208 2.525E-5 39604 0 4.02405E-6
18-14796255-AC-A c.1854+8delC splice_region ANKRD30B 3 79270 3.78453E-5 39635 0 3.18735E-5
18-14796256-C-A c.1854+8C>A splice_region ANKRD30B 1 79270 1.26151E-5 39635 0 NA
18-14796334-C-A c.1855-8C>A splice_region ANKRD30B 442 79238 0.00557813 39619 8 0.0116294
18-14796335-C-T c.1855-7C>T splice_region ANKRD30B 1 79248 1.26186E-5 39624 0 4.54244E-6
18-14796347-C-T p.Thr620Thr synonymous ANKRD30B 15 79142 1.89533E-4 39571 0 6.45995E-4
18-14796352-G-T p.Gly622Val missense ANKRD30B 2 79052 2.52998E-5 39526 0 2.2008E-5
18-14796360-G-A p.Val625Ile missense ANKRD30B 1 78928 1.26698E-5 39464 0 5.07769E-5
18-14796360-G-T p.Val625Phe missense ANKRD30B 2 78928 2.53396E-5 39464 0 NA
18-14796363-T-C p.Ser626Pro missense ANKRD30B 1 78878 1.26778E-5 39439 0 NA
18-14796374-T-C p.Ter620Glnext*? stop_lost ANKRD30B 2 78674 2.54214E-5 39337 0 5.79354E-6
18-14796383-AG-A p.Glu633fs frameshift ANKRD30B 1 78594 1.27236E-5 39297 0 1.05315E-4
18-14796385-A-T p.Glu633Val missense ANKRD30B 1 78560 1.27291E-5 39280 0 1.06353E-4
18-14796401-A-G p.Glu638Glu synonymous ANKRD30B 1 78420 1.27518E-5 39210 0 NA
18-14796403-C-T p.Thr639Ile missense ANKRD30B 1 78408 1.27538E-5 39204 0 NA
18-14796404-A-T p.Thr639Thr synonymous ANKRD30B 74 78398 9.43902E-4 39199 0 0.00120965
18-14796405-T-C p.Phe640Leu missense ANKRD30B 7 78392 8.92948E-5 39196 0 0.00126263
18-14796416-T-C c.1927+2T>C splice_donor ANKRD30B 1 78242 1.27809E-5 39121 0 NA
18-14796418-A-C c.1927+4A>C splice_region ANKRD30B 118 78210 0.00150876 39105 1 0.00194488
18-14797660-A-G p.Glu643Gly missense+splice_region ANKRD30B 1 79168 1.26314E-5 39584 0 NA
18-14797665-C-T p.Pro645Ser missense ANKRD30B 2 79200 2.52525E-5 39600 0 NA
18-14797673-A-T p.Lys647Asn missense ANKRD30B 4 79232 5.04847E-5 39616 0 5.63961E-5
18-14797680-C-G p.Leu650Val missense ANKRD30B 5 79252 6.30899E-5 39626 0 1.72625E-5
18-14797688-G-A p.Lys652Lys splice_region+synonymous ANKRD30B 1 79260 1.26167E-5 39630 0 NA
18-14797689-G-A c.1956+1G>A splice_donor ANKRD30B 2 79258 2.5234E-5 39629 0 1.74599E-5
18-14797692-A-G c.1956+4A>G splice_region ANKRD30B 1 79290 1.26119E-5 39645 0 NA
18-14797773-C-A c.1957-8C>A splice_region ANKRD30B 1 79250 1.26183E-5 39625 0 5.5433E-6
18-14797776-T-C c.1957-5T>C splice_region ANKRD30B 1 79228 1.26218E-5 39614 0 4.19088E-4
18-14797786-C-A p.Thr654Thr synonymous ANKRD30B 1 79076 1.26461E-5 39538 0 NA
18-14797786-C-T p.Thr654Thr synonymous ANKRD30B 1 79078 1.26457E-5 39539 0 NA
18-14797788-G-T p.Cys655Phe missense ANKRD30B 1 79018 1.26553E-5 39509 0 NA
18-14797788-G-A p.Cys655Tyr missense ANKRD30B 4 79012 5.06252E-5 39506 0 2.36658E-5
18-14797791-G-T p.Gly656Val missense ANKRD30B 12 78974 1.51949E-4 39487 0 2.82805E-4
18-14797794-G-A p.Arg657Lys missense ANKRD30B 2 78922 2.53415E-5 39461 0 NA
18-14797795-G-A p.Arg657Arg synonymous ANKRD30B 1 78918 1.26714E-5 39459 0 1.33341E-4
18-14797807-T-C p.Leu661Leu synonymous ANKRD30B 4 78784 5.07717E-5 39392 0 1.27405E-4
18-14797814-A-G p.Lys664Glu missense ANKRD30B 1 78684 1.27091E-5 39342 0 4.16146E-5
18-14797818-C-A p.Ala665Asp missense ANKRD30B 1 78646 1.27152E-5 39323 0 NA
18-14797819-C-G p.Ala665Ala synonymous ANKRD30B 1 78638 1.27165E-5 39319 0 3.18573E-5
18-14797823-G-T p.Glu667* stop_gained ANKRD30B 8 78600 1.01781E-4 39300 0 0.0010211
18-14797837-A-C p.Arg671Ser missense ANKRD30B 7 78470 8.92061E-5 39235 0 6.3674E-5
18-14797842-C-A p.Thr673Lys missense ANKRD30B 1 78426 1.27509E-5 39213 0 NA
18-14797843-A-G p.Thr673Thr synonymous ANKRD30B 1 78408 1.27538E-5 39204 0 6.40558E-6
18-14797854-G-T c.2029+1G>T splice_donor ANKRD30B 1 78268 1.27766E-5 39134 0 1.97057E-5
18-14797857-C-A c.2029+4C>A splice_region ANKRD30B 35 78192 4.47616E-4 39096 1 4.45973E-4
18-14797857-C-T c.2029+4C>T splice_region ANKRD30B 13 78196 1.66249E-4 39098 0 7.4184E-4
18-14799113-T-A p.Asn681Lys missense ANKRD30B 20 78204 2.55741E-4 39102 0 4.00748E-4
18-14799115-A-G p.Asp682Gly missense ANKRD30B 2 78338 2.55304E-5 39169 0 8.05075E-6
18-14799120-C-T p.Leu684Phe missense ANKRD30B 2 78356 2.55245E-5 39178 0 3.18674E-5
18-14799204-GTTTCCAAACCCATTTAGCCTACC-G p.Pro687_Cys689del splice_acceptor ANKRD30B 1 78322 1.27678E-5 39161 0 3.18979E-5
18-14799216-A-C c.2059-6A>C splice_region ANKRD30B 1 78322 1.27678E-5 39161 0 3.18634E-5
18-14799218-T-G c.2059-4T>G splice_region ANKRD30B 3 78322 3.83034E-5 39161 0 3.98565E-5
18-14799221-G-GC p.Thr688fs frameshift ANKRD30B 5 78332 6.38309E-5 39166 0 NA
18-14799224-T-TTA p.Thr688fs frameshift ANKRD30B 5 78318 6.38423E-5 39159 0 NA
18-14799230-T-A p.Cys689* stop_gained ANKRD30B 1 78322 1.27678E-5 39161 0 NA
18-14799231-G-A p.Gly690Arg missense ANKRD30B 1 78320 1.27681E-5 39160 0 NA
18-14799232-G-T p.Gly690Val missense ANKRD30B 2 78312 2.55389E-5 39156 0 4.83673E-5
18-14799233-A-AC p.Arg691fs frameshift ANKRD30B 1 78322 1.27678E-5 39161 0 3.18613E-5
18-14799238-A-C p.Lys692Thr missense ANKRD30B 1 78300 1.27714E-5 39150 0 3.18613E-5
18-14799240-G-T p.Val693Phe missense ANKRD30B 22 78284 2.81028E-4 39142 0 0.00121181
18-14799240-G-C p.Val693Leu missense ANKRD30B 1 78288 1.27734E-5 39144 0 NA
18-14799244-C-A p.Ser694Tyr missense ANKRD30B 1 78268 1.27766E-5 39134 0 NA
18-14799247-T-C p.Leu695Pro missense ANKRD30B 1 78266 1.27769E-5 39133 0 5.93296E-5
18-14799249-C-T p.Pro696Ser missense ANKRD30B 57 78252 7.28416E-4 39126 0 6.41026E-4
18-14799260-T-C p.Ala699Ala synonymous ANKRD30B 3 78216 3.83553E-5 39108 0 3.37633E-5
18-14799273-G-A p.Asp704Asn missense ANKRD30B 1 78104 1.28034E-5 39052 0 NA
18-14799287-C-G p.Phe708Leu missense ANKRD30B 5 78012 6.40927E-5 39006 0 2.05541E-4
18-14799287-C-A p.Phe708Leu missense ANKRD30B 3 78010 3.84566E-5 39005 0 3.18959E-5
18-14799292-CA-C p.Ala711fs frameshift ANKRD30B 1 77986 1.28228E-5 38993 0 NA
18-14799299-A-T c.2131+5A>T splice_region ANKRD30B 2 77874 2.56825E-5 38937 0 NA
18-14799300-T-C c.2131+6T>C splice_region ANKRD30B 2 77858 2.56878E-5 38929 0 5.36431E-5
18-14803730-C-T c.2194-3C>T splice_region ANKRD30B 2 77454 2.58218E-5 38727 0 4.37974E-6
18-14803745-A-G p.Thr736Ala missense ANKRD30B 14 77342 1.81014E-4 38671 0 0.0379581
18-14803745-ACT-A p.Leu738fs frameshift ANKRD30B 1 77680 1.28733E-5 38840 0 1.42098E-5
18-14803757-A-T p.Asn740Tyr missense ANKRD30B 2 77638 2.57606E-5 38819 1 NA
18-14803765-G-A p.Val742Val synonymous ANKRD30B 1 77550 1.28949E-5 38775 0 NA
18-14803781-A-G p.Thr748Ala missense ANKRD30B 1 77308 1.29353E-5 38654 0 9.86368E-6
18-14803798-C-T p.Phe753Phe synonymous ANKRD30B 3 76984 3.89691E-5 38492 0 6.48172E-5
18-14808542-T-A c.2285-8T>A splice_region ANKRD30B 572 77446 0.00738579 38723 36 0.017796
18-14808554-T-C p.Ser763Ser synonymous ANKRD30B 2 77760 2.57202E-5 38880 0 1.88512E-5
18-14808556-C-T p.Pro764Leu missense ANKRD30B 18 77812 2.31327E-4 38906 0 1.06991E-4
18-14808557-T-C p.Pro764Pro synonymous ANKRD30B 2 77846 2.56918E-5 38923 0 1.4061E-4
18-14808558-G-A p.Asp765Asn missense ANKRD30B 13 77850 1.66988E-4 38925 1 4.85343E-4
18-14808559-A-T p.Asp765Val missense ANKRD30B 2 77850 2.56904E-5 38925 0 1.29257E-4
18-14808559-A-G p.Asp765Gly missense ANKRD30B 1 77850 1.28452E-5 38925 0 NA
18-14808560-T-A p.Asp765Glu missense ANKRD30B 49 77860 6.29335E-4 38930 3 0.00109784
18-14808567-G-T p.Gly768Cys missense ANKRD30B 1 77890 1.28386E-5 38945 0 NA
18-14808570-C-T p.Leu769Phe missense ANKRD30B 1 77954 1.28281E-5 38977 0 NA
18-14808572-T-G p.Leu769Leu synonymous ANKRD30B 9 77976 1.1542E-4 38988 0 5.48812E-4
18-14808579-G-A c.2313+1G>A splice_donor ANKRD30B 3 78046 3.84389E-5 39023 0 3.72787E-5
18-14808583-T-C c.2313+5T>C splice_region ANKRD30B 3 78088 3.84182E-5 39044 0 3.23018E-5
18-14808584-T-C c.2313+6T>C splice_region ANKRD30B 7 78092 8.96379E-5 39046 0 2.8169E-5
18-14808666-T-A n.375-5T>A splice_region ANKRD30B 1 77776 1.28574E-5 38888 0 NA
18-14808670-G-A n.375-1G>A splice_acceptor ANKRD30B 1 77782 1.28564E-5 38891 0 NA
18-14808741-C-T c.*495C>T splice_region ANKRD30B 1 76586 1.30572E-5 38293 0 NA
18-14808747-A-C c.*497+4A>C splice_region ANKRD30B 486 75858 0.00640671 37929 27 0.0167021
18-14808750-T-A c.*497+7T>A splice_region ANKRD30B 1 76266 1.3112E-5 38133 0 NA
18-14809978-C-T c.*498-7C>T splice_region ANKRD30B 1 76680 1.30412E-5 38340 0 NA
18-14810016-A-T c.*526+3A>T splice_region ANKRD30B 2 76800 2.60417E-5 38400 1 1.73271E-5
18-14810099-C-A c.*527-8C>A splice_region ANKRD30B 1 76172 1.31282E-5 38086 0 1.25982E-4
18-14810106-G-C c.*527-1G>C splice_acceptor ANKRD30B 12 76056 1.57778E-4 38028 1 4.81116E-5
18-14810177-C-A c.*597C>A splice_region ANKRD30B 4 73418 5.44826E-5 36709 0 2.77444E-4
18-14810178-A-C c.*598A>C splice_region ANKRD30B 132 73252 0.001802 36626 6 0.00131587
18-14810185-CTT-C c.*599+7_*599+8delTT splice_region ANKRD30B 4 72434 5.52227E-5 36217 1 1.28684E-4
18-14810185-C-T c.*599+6C>T splice_region ANKRD30B 6 72432 8.28363E-5 36216 0 3.04017E-4
18-14822596-C-A c.2314-8C>A splice_region ANKRD30B 1 70142 1.42568E-5 35071 0 NA
18-14822610-T-C p.Cys774Arg missense ANKRD30B 3 70464 4.25749E-5 35232 0 1.29828E-4
18-14822616-A-G p.Met776Val missense ANKRD30B 6 70194 8.54774E-5 35097 0 8.75316E-4
18-14828274-T-C c.2387-3T>C splice_region ANKRD30B 2 77398 2.58405E-5 38699 0 2.07749E-4
18-14828279-G-A p.Asp797Asn missense+splice_region ANKRD30B 17 77434 2.19542E-4 38717 0 2.86533E-4
18-14828284-G-C p.Val798Val synonymous ANKRD30B 1 77480 1.29066E-5 38740 0 NA
18-14828289-C-T p.Ser800Phe missense ANKRD30B 1 77490 1.29049E-5 38745 0 0.00131062
18-14828291-G-A p.Val801Ile missense ANKRD30B 12 77506 1.54827E-4 38753 0 3.50229E-4
18-14828291-G-T p.Val801Leu missense ANKRD30B 1 77506 1.29022E-5 38753 0 7.1622E-6
18-14828314-CTT-C c.2417+8_2417+9delTT splice_region ANKRD30B 2 77362 2.58525E-5 38681 0 1.2738E-4
18-14831395-C-T p.Pro811Ser missense ANKRD30B 1 78230 1.27828E-5 39115 0 NA
18-14831396-C-T p.Pro811Leu missense ANKRD30B 5 78248 6.38994E-5 39124 0 4.90725E-5
18-14831398-A-C p.Thr812Pro missense ANKRD30B 1 78330 1.27665E-5 39165 0 NA
18-14831420-C-T p.Thr819Ile missense ANKRD30B 1 78644 1.27155E-5 39322 0 NA
18-14831422-A-G p.Lys820Glu missense ANKRD30B 56 78648 7.12033E-4 39324 0 0.00134091
18-14831448-T-C p.Thr828Thr synonymous ANKRD30B 619 78418 0.0078936 39209 8 0.0197889
18-14831449-A-G p.Thr829Ala missense ANKRD30B 3 78516 3.82088E-5 39258 0 NA
18-14831450-C-T p.Thr829Ile missense ANKRD30B 1 78472 1.27434E-5 39236 0 NA
18-14831451-C-T p.Thr829Thr synonymous ANKRD30B 251 78484 0.0031981 39242 5 0.0078524
18-14831452-A-G p.Lys830Glu missense+splice_region ANKRD30B 1 78478 1.27424E-5 39239 0 7.02583E-6
18-14831461-T-C c.2490+7T>C splice_region ANKRD30B 1 78264 1.27773E-5 39132 0 3.1904E-5
18-14837192-GTGTTT-G c.2491-12_2491-8delTGTTT splice_region ANKRD30B 1 77742 1.28631E-5 38871 0 NA
18-14837210-G-T p.Glu831* stop_gained ANKRD30B 4 78292 5.10908E-5 39146 0 6.38121E-5
18-14837224-G-GACAGGA p.Thr836_Val837insGlyThr disruptive_inframe_insertion ANKRD30B 28 78554 3.56443E-4 39277 0 3.54036E-4
18-14837229-T-C p.Val837Ala missense ANKRD30B 25 78582 3.18139E-4 39291 0 3.54072E-4
18-14837230-A-G p.Val837Val synonymous ANKRD30B 4 78610 5.08841E-5 39305 0 4.04654E-4
18-14837232-C-G p.Thr838Ser missense ANKRD30B 1 78606 1.27217E-5 39303 0 NA
18-14837241-A-G p.Gln841Arg missense ANKRD30B 1 78682 1.27094E-5 39341 0 6.51483E-6
18-14837244-A-C p.Glu842Ala missense ANKRD30B 1 78692 1.27078E-5 39346 0 3.18735E-5
18-14837246-C-T p.Arg843Cys missense ANKRD30B 605 78618 0.00769544 39309 14 0.0185055
18-14837247-G-A p.Arg843His missense ANKRD30B 4 78670 5.08453E-5 39335 0 2.60726E-5
18-14837261-A-G p.Ile848Val missense ANKRD30B 1 78676 1.27104E-5 39338 0 1.30359E-5
18-14837263-T-C p.Ile848Ile synonymous ANKRD30B 1 78660 1.27129E-5 39330 0 NA
18-14837264-G-C p.Glu849Gln missense ANKRD30B 1 78652 1.27142E-5 39326 0 NA
18-14837267-C-T p.Arg850* stop_gained ANKRD30B 3 78594 3.81709E-5 39297 0 9.57793E-5
18-14837273-C-T p.Pro852Ser missense ANKRD30B 2 78588 2.54492E-5 39294 0 NA
18-14837274-C-T p.Pro852Leu missense ANKRD30B 1 78590 1.27243E-5 39295 0 3.1902E-5
18-14837277-A-G p.Gln853Arg missense ANKRD30B 45 78598 5.72534E-4 39299 0 0.00311526
18-14837286-C-T p.Thr856Ile missense+splice_region ANKRD30B 2 78462 2.549E-5 39231 0 5.10048E-5
18-14837294-G-A n.141+6G>A splice_region ANKRD30B 8 78224 1.0227E-4 39112 0 1.02145E-4
18-14837613-G-C n.142-1G>C splice_acceptor ANKRD30B 1 75464 1.32514E-5 37732 0 NA
18-14837636-A-G p.Leu864Leu synonymous ANKRD30B 1 76208 1.3122E-5 38104 0 5.72148E-5
18-14837678-A-G n.203+3A>G splice_region ANKRD30B 3 76082 3.94311E-5 38041 0 1.05285E-4
18-14840586-G-A n.204-1G>A splice_acceptor ANKRD30B 1 72618 1.37707E-5 36309 0 NA
18-14840594-C-A p.Ser880Tyr missense ANKRD30B 9 74356 1.21039E-4 37178 0 6.37674E-5
18-14840602-G-C p.Asp883His missense ANKRD30B 2 75394 2.65273E-5 37697 0 1.42245E-5
18-14840603-A-G p.Asp883Gly missense ANKRD30B 1 75480 1.32485E-5 37740 0 3.27033E-5
18-14840604-T-C p.Asp883Asp synonymous ANKRD30B 2 75522 2.64824E-5 37761 0 3.18593E-5
18-14840616-T-G p.Tyr887* stop_gained ANKRD30B 5 76198 6.56185E-5 38099 0 4.68685E-5
18-14840617-G-A p.Glu888Lys missense ANKRD30B 2 76198 2.62474E-5 38099 0 NA
18-14840621-G-A p.Cys889Tyr missense ANKRD30B 4 76306 5.24205E-5 38153 0 3.18715E-5
18-14840637-A-G p.Thr894Thr synonymous ANKRD30B 2 76318 2.62061E-5 38159 0 NA
18-14840651-TAA-T p.Lys900fs frameshift ANKRD30B 4 76202 5.24921E-5 38101 0 6.73328E-6
18-14840659-A-G p.Thr902Ala missense ANKRD30B 1 76140 1.31337E-5 38070 0 NA
18-14840662-A-T p.Asn903Tyr missense ANKRD30B 2 76096 2.62826E-5 38048 0 NA
18-14840674-G-A p.Glu907Lys missense ANKRD30B 8 75566 1.05868E-4 37783 0 2.54777E-4
18-14842910-C-G p.Pro913Ala missense ANKRD30B 1 77218 1.29503E-5 38609 0 NA
18-14842910-C-T p.Pro913Ser missense ANKRD30B 1 77218 1.29503E-5 38609 0 NA
18-14843023-C-G p.Pro918Ala missense+splice_region ANKRD30B 375 75320 0.00497876 37660 1 0.00884612
18-14843025-T-G p.Pro918Pro splice_region+synonymous ANKRD30B 1 76370 1.30941E-5 38185 0 NA
18-14843028-C-T p.Ala919Ala synonymous ANKRD30B 1 76656 1.30453E-5 38328 0 NA
18-14843080-C-A p.Gln937Lys missense ANKRD30B 2 77948 2.56581E-5 38974 0 NA
18-14848709-A-G n.397-6A>G splice_region ANKRD30B 1 75734 1.32041E-5 37867 0 NA
18-14848726-C-T p.Leu946Leu synonymous ANKRD30B 1 77360 1.29266E-5 38680 0 NA
18-14848728-A-G p.Leu946Leu synonymous ANKRD30B 1 77430 1.29149E-5 38715 0 NA
18-14848737-C-G p.Ile949Met missense ANKRD30B 1 77956 1.28277E-5 38978 0 NA
18-14848738-T-C p.Leu950Leu synonymous ANKRD30B 1 78016 1.28179E-5 39008 0 4.31667E-5
18-14848738-T-A p.Leu950Met missense ANKRD30B 1 78016 1.28179E-5 39008 0 1.295E-4
18-14848741-G-A p.Asp951Asn missense ANKRD30B 2 78178 2.55826E-5 39089 0 5.67299E-6
18-14848748-T-C p.Leu953Pro missense ANKRD30B 917 78204 0.0117257 39102 38 0.0263057
18-14848762-A-G p.Arg958Gly missense ANKRD30B 1 78516 1.27363E-5 39258 0 NA
18-14848770-G-T p.Arg960Ser missense ANKRD30B 1 78600 1.27226E-5 39300 0 NA
18-14848774-C-T p.Leu962Phe missense ANKRD30B 9 78680 1.14387E-4 39340 0 3.19407E-4
18-14848820-C-T p.Thr977Met missense ANKRD30B 30004 70268 0.426994 35134 7922 0.631846
18-14848821-G-A p.Thr977Thr synonymous ANKRD30B 21353 52838 0.404122 26419 4322 0.528739
18-14848833-T-TTG p.Leu984fs frameshift ANKRD30B 3 78210 3.83583E-5 39105 0 3.18837E-5
18-14848843-C-T p.Gln985* stop_gained ANKRD30B 1 77930 1.2832E-5 38965 0 NA
18-14848843-CAAA-C p.Lys986del disruptive_inframe_deletion ANKRD30B 2 77930 2.56641E-5 38965 0 6.11247E-4
18-14848849-G-A p.Glu987Lys missense ANKRD30B 4 77810 5.14073E-5 38905 0 9.56694E-5
18-14848852-C-A p.Leu988Met missense ANKRD30B 3 77804 3.85584E-5 38902 0 6.26566E-4
18-14848853-T-G p.Leu988Arg missense ANKRD30B 1 77816 1.28508E-5 38908 0 NA
18-14848862-C-T p.Ala991Val missense ANKRD30B 3 77494 3.87127E-5 38747 0 0.00125471
18-14848883-T-C p.Leu998Ser missense ANKRD30B 1 76598 1.30552E-5 38299 0 NA
18-14848887-G-A p.Glu999Glu synonymous ANKRD30B 1 76440 1.30822E-5 38220 0 NA
18-14848892-A-G p.Gln1001Arg missense ANKRD30B 1 76276 1.31103E-5 38138 0 NA
18-14848898-C-G p.Ala1003Gly missense ANKRD30B 1 76082 1.31437E-5 38041 0 8.8164E-6
18-14848905-G-C p.Trp1005Cys missense ANKRD30B 1 76124 1.31365E-5 38062 0 3.14367E-5
18-14848918-T-C p.Cys1010Arg missense ANKRD30B 1 75672 1.32149E-5 37836 0 NA
18-14848919-G-T p.Cys1010Phe missense ANKRD30B 1 75612 1.32254E-5 37806 0 NA
18-14848935-C-T n.610+7C>T splice_region ANKRD30B 31990 65130 0.491172 32565 8274 0.529212
18-14850207-T-C n.611-6T>C splice_region ANKRD30B 2 76262 2.62254E-5 38131 0 3.19754E-5
18-14850217-AC-A p.Thr1015fs frameshift ANKRD30B 3 76694 3.91165E-5 38347 0 8.38054E-5
18-14850218-C-T p.Thr1015Ile missense ANKRD30B 2 76682 2.60817E-5 38341 0 1.65349E-5
18-14850223-A-C p.Asn1017His missense ANKRD30B 49 76902 6.37175E-4 38451 0 0.00130378
18-14850226-CAAG-C p.Glu1021del disruptive_inframe_deletion ANKRD30B 2 77004 2.59727E-5 38502 0 3.20349E-5
18-14850227-A-G p.Gln1018Arg missense ANKRD30B 1 77080 1.29735E-5 38540 0 2.99231E-5
18-14850230-AAGAAG-A p.Arg1023fs frameshift ANKRD30B 1 77106 1.29692E-5 38553 0 3.19693E-5
18-14850234-AGAG-A p.Glu1021del conservative_inframe_deletion ANKRD30B 2 77454 2.58218E-5 38727 0 NA
18-14850237-G-A p.Glu1021Glu synonymous ANKRD30B 585 77558 0.00754274 38779 14 0.0183598
18-14850242-GAAGAA-G p.Arg1024fs frameshift ANKRD30B 4 77930 5.13281E-5 38965 0 6.39591E-5
18-14850245-G-T p.Arg1024Ile missense ANKRD30B 6 78068 7.68561E-5 39034 0 1.91877E-4
18-14850252-C-T p.Val1026Val synonymous ANKRD30B 441 78172 0.00564141 39086 8 0.0117575
18-14850252-C-A p.Val1026Val synonymous ANKRD30B 2 78198 2.55761E-5 39099 0 9.38514E-5
18-14850253-G-A p.Asp1027Asn missense ANKRD30B 6 78226 7.67008E-5 39113 0 1.47323E-4
18-14850254-A-C p.Asp1027Ala missense ANKRD30B 1 78322 1.27678E-5 39161 0 2.67237E-5
18-14850255-T-C p.Asp1027Asp synonymous ANKRD30B 1 78354 1.27626E-5 39177 0 1.33298E-5
18-14850255-T-A p.Asp1027Glu missense ANKRD30B 1 78354 1.27626E-5 39177 0 NA
18-14850256-A-G p.Ile1028Val missense ANKRD30B 7 78386 8.93017E-5 39193 0 0.00251889
18-14850257-T-C p.Ile1028Thr missense ANKRD30B 1 78418 1.27522E-5 39209 0 NA
18-14850265-G-T p.Glu1031* stop_gained ANKRD30B 3 78598 3.81689E-5 39299 0 1.28008E-4
18-14850273-TAGACCCGA-T p.Pro1035fs frameshift ANKRD30B 1 78716 1.27039E-5 39358 0 1.32273E-5
18-14850279-C-A p.Pro1035Pro synonymous ANKRD30B 1 78770 1.26952E-5 39385 0 NA
18-14850279-C-T p.Pro1035Pro synonymous ANKRD30B 2 78770 2.53904E-5 39385 0 3.92979E-5
18-14850280-G-A p.Glu1036Lys missense ANKRD30B 11 78784 1.39622E-4 39392 0 3.90849E-5
18-14850285-G-C p.Glu1037Asp missense ANKRD30B 1 78802 1.269E-5 39401 0 NA
18-14850300-G-A p.Lys1042Lys synonymous ANKRD30B 2 78748 2.53975E-5 39374 0 NA
18-14850304-G-T p.Glu1044* stop_gained ANKRD30B 1 78778 1.26939E-5 39389 0 NA
18-14850311-A-G p.Lys1046Arg missense ANKRD30B 1 78782 1.26933E-5 39391 0 NA
18-14850329-C-T p.Thr1052Ile missense ANKRD30B 1 78934 1.26688E-5 39467 0 NA
18-14850329-C-G p.Thr1052Ser missense ANKRD30B 2 78934 2.53376E-5 39467 0 1.79446E-5
18-14850339-A-G p.Ile1055Met missense ANKRD30B 3 78876 3.80344E-5 39438 0 6.391E-5
18-14850345-T-G p.Asp1057Glu missense ANKRD30B 6 78754 7.61866E-5 39377 0 8.06127E-5
18-14850357-A-AAAT p.Lys1061_Ser1062insAsn disruptive_inframe_insertion ANKRD30B 1 78422 1.27515E-5 39211 0 NA
18-14850364-A-G p.Thr1064Ala missense ANKRD30B 1 78192 1.2789E-5 39096 0 5.76223E-6
18-14850375-G-A p.Leu1067Leu synonymous ANKRD30B 37070 73364 0.505289 36682 9517 0.531802
18-14851514-C-G p.His1072Asp missense ANKRD30B 2 78196 2.55768E-5 39098 0 NA
18-14851552-T-C p.Asn1084Asn synonymous ANKRD30B 1 78772 1.26949E-5 39386 0 1.00823E-5
18-14851554-G-A p.Cys1085Tyr missense ANKRD30B 1 78756 1.26974E-5 39378 0 6.38174E-4
18-14851570-A-G p.Glu1090Glu synonymous ANKRD30B 1 78880 1.26775E-5 39440 0 NA
18-14851579-GC-G p.Leu1094fs frameshift ANKRD30B 2 78960 2.53293E-5 39480 0 9.57365E-5
18-14851581-T-C p.Leu1094Pro missense ANKRD30B 2 78974 2.53248E-5 39487 0 4.72402E-5
18-14851582-A-T p.Leu1094Leu synonymous ANKRD30B 1 78998 1.26585E-5 39499 0 9.56694E-5
18-14851612-A-C p.Gln1104His missense ANKRD30B 1 79262 1.26164E-5 39631 0 1.70419E-5
18-14851623-A-G p.Lys1108Arg missense ANKRD30B 1 79306 1.26094E-5 39653 0 8.50398E-6
18-14851625-G-A p.Glu1109Lys missense ANKRD30B 2 79302 2.522E-5 39651 0 4.05154E-6
18-14851635-A-T p.Tyr1112Phe missense ANKRD30B 20 79302 2.522E-4 39651 0 0.00217628
18-14851652-A-T p.Ile1118Phe missense ANKRD30B 1 79388 1.25964E-5 39694 0 3.18918E-5
18-14851674-A-T p.Glu1125Val missense ANKRD30B 3 79492 3.77396E-5 39746 0 2.60516E-4
18-14851694-C-T p.Leu1132Leu synonymous ANKRD30B 2 79410 2.51857E-5 39705 0 3.65967E-5
18-14851713-C-CA p.Arg1140fs frameshift ANKRD30B 1 79066 1.26477E-5 39533 0 8.43896E-6
18-14851719-G-C p.Arg1140Thr missense ANKRD30B 1 78800 1.26904E-5 39400 0 NA
18-14851753-G-A p.Leu1151Leu synonymous ANKRD30B 32 73116 4.37661E-4 36558 9 7.3955E-4
18-14851756-G-A p.Thr1152Thr synonymous ANKRD30B 316 35176 0.0089834 17588 59 0.574871
18-14851847-G-A p.Ala1183Thr missense ANKRD30B 1 73822 1.35461E-5 36911 0 2.1692E-4
18-14852114-C-G p.Gln1272Glu missense ANKRD30B 9 78916 1.14045E-4 39458 0 0.00501178
18-14852229-A-G p.Asn1310Ser missense ANKRD30B 1 80306 1.24524E-5 40153 0 NA
18-14852241-G-A p.Arg1314Gln missense ANKRD30B 1 80078 1.24878E-5 40039 0 6.55652E-5
18-14852247-A-G p.Gln1316Arg missense ANKRD30B 1 79966 1.25053E-5 39983 0 NA
18-14852271-T-C p.Val1324Ala missense ANKRD30B 1 79128 1.26378E-5 39564 0 6.91506E-6
18-14852275-C-A p.Asn1325Lys missense ANKRD30B 21 78832 2.66389E-4 39416 0 5.74529E-4
18-14852283-A-T p.Lys1328Met missense ANKRD30B 1 78250 1.27796E-5 39125 0 NA
18-14852284-G-T p.Lys1328Asn missense ANKRD30B 2 78146 2.55931E-5 39073 0 NA
18-14852300-C-T p.Gln1334* stop_gained ANKRD30B 1 77630 1.28816E-5 38815 0 6.38244E-5
18-14852325-G-A p.Arg1342His missense ANKRD30B 18 76688 2.34717E-4 38344 0 2.69978E-4
18-14852332-A-G p.Leu1344Leu synonymous ANKRD30B 3 76232 3.93536E-5 38116 0 NA
18-14852335-C-A p.Asn1345Lys missense ANKRD30B 63703 64546 0.98694 32273 31462 0.999374
18-14852337-A-G p.Glu1346Gly missense ANKRD30B 6 76132 7.88105E-5 38066 0 1.12486E-4
18-14852338-G-T p.Glu1346Asp missense ANKRD30B 1 76182 1.31265E-5 38091 0 1.51916E-5
18-14852343-AT-A p.Asn1348fs frameshift ANKRD30B 1 76348 1.30979E-5 38174 0 NA
18-14852345-G-T p.Glu1349* stop_gained ANKRD30B 1 76448 1.30808E-5 38224 0 NA
18-14852361-A-G p.Tyr1354Cys missense ANKRD30B 3 77018 3.89519E-5 38509 0 NA
18-14852381-C-A p.Arg1361Ser missense ANKRD30B 2 77682 2.5746E-5 38841 0 0.004436
18-14852391-A-G p.Gln1364Arg missense ANKRD30B 1 77630 1.28816E-5 38815 0 NA
18-14852397-A-G p.Glu1366Gly missense ANKRD30B 33 77684 4.24798E-4 38842 0 0.00108467
18-14852401-A-G p.Lys1367Lys synonymous ANKRD30B 40 77704 5.14774E-4 38852 0 0.00149892
18-14852425-T-C p.Ser1375Ser synonymous ANKRD30B 85 77658 0.00109454 38829 0 0.00166945
18-14852428-C-CA p.Tyr1379fs frameshift ANKRD30B 1 77746 1.28624E-5 38873 0 NA
18-14852441-T-C p.Tyr1381His missense ANKRD30B 1 77710 1.28684E-5 38855 0 NA
18-14852449-A-G p.Ser1383Ser synonymous ANKRD30B 1 77432 1.29146E-5 38716 0 9.02723E-6
18-14852455-C-T p.Phe1385Phe synonymous ANKRD30B 1 77224 1.29493E-5 38612 0 NA



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