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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 55612 2.87708E-4 27806 0 0.00127869
18-14748366-C-T c.-53C>T 5_prime_UTR_premature_start_codon_gain ANKRD30B 1 77634 1.2881E-5 38817 0 3.2076E-5
18-14748400-C-G c.-19C>G 5_prime_UTR_premature_start_codon_gain ANKRD30B 2 80666 2.47936E-5 40333 0 NA
18-14748411-C-T c.-8C>T 5_prime_UTR_premature_start_codon_gain ANKRD30B 2 81100 2.46609E-5 40550 0 NA
18-14748423-A-C p.Lys2Thr missense ANKRD30B 1 81488 1.22717E-5 40744 0 1.73313E-5
18-14748426-G-A p.Arg3Lys missense ANKRD30B 1 81544 1.22633E-5 40772 0 3.19163E-5
18-14748427-G-T p.Arg3Ser missense ANKRD30B 67 81538 8.21703E-4 40769 1 0.00300976
18-14748435-C-A p.Ala6Asp missense ANKRD30B 1 81686 1.2242E-5 40843 0 NA
18-14748438-C-T p.Ala7Val missense ANKRD30B 1 81704 1.22393E-5 40852 0 3.19142E-5
18-14748439-C-A p.Ala7Ala synonymous ANKRD30B 2 81740 2.44678E-5 40870 0 1.58519E-5
18-14748455-C-A p.Arg13Arg synonymous ANKRD30B 1 81770 1.22294E-5 40885 0 NA
18-14748458-G-A p.Gly14Ser missense ANKRD30B 1 81842 1.22187E-5 40921 0 2.74556E-5
18-14748463-G-T p.Pro15Pro synonymous ANKRD30B 51 81820 6.23319E-4 40910 0 0.00120482
18-14748467-C-A p.Pro17Thr missense ANKRD30B 1 81808 1.22237E-5 40904 0 NA
18-14748469-C-T p.Pro17Pro synonymous ANKRD30B 2 81922 2.44135E-5 40961 0 NA
18-14748473-A-C p.Asn19His missense ANKRD30B 1 81882 1.22127E-5 40941 0 NA
18-14748474-A-G p.Asn19Ser missense ANKRD30B 39 81958 4.75853E-4 40979 1 4.77612E-4
18-14748476-C-A p.Pro20Thr missense ANKRD30B 3 82016 3.65782E-5 41008 0 6.53142E-6
18-14748512-G-C p.Gly32Arg missense ANKRD30B 1 82218 1.21628E-5 41109 0 3.18715E-5
18-14748512-G-A p.Gly32Arg missense ANKRD30B 2 82218 2.43256E-5 41109 0 NA
18-14748525-TC-T p.Phe36fs frameshift ANKRD30B 19 82256 2.30986E-4 41128 0 5.17063E-4
18-14748530-G-A p.Asp38Asn missense ANKRD30B 4 82314 4.85944E-5 41157 0 9.42418E-5
18-14748536-G-A p.Gly40Arg missense ANKRD30B 2 82346 2.42878E-5 41173 0 NA
18-14748538-G-A p.Gly40Gly synonymous ANKRD30B 1 82334 1.21457E-5 41167 0 NA
18-14748541-G-A p.Lys41Lys synonymous ANKRD30B 1 82368 1.21406E-5 41184 0 NA
18-14748543-T-C p.Ile42Thr missense ANKRD30B 2 82378 2.42783E-5 41189 0 3.19122E-5
18-14748548-A-G p.Thr44Ala missense ANKRD30B 1 82390 1.21374E-5 41195 0 NA
18-14748560-C-A p.Arg48Arg synonymous ANKRD30B 1 82394 1.21368E-5 41197 0 0.00203252
18-14748560-C-T p.Arg48Trp missense ANKRD30B 3 82392 3.64113E-5 41196 0 4.43695E-5
18-14748565-C-G p.Gly49Gly synonymous ANKRD30B 1 82406 1.2135E-5 41203 0 NA
18-14748569-G-A p.Val51Ile missense ANKRD30B 2 82432 2.42624E-5 41216 0 NA
18-14748571-C-G p.Val51Val synonymous ANKRD30B 1 82436 1.21306E-5 41218 0 9.56328E-5
18-14748574-G-A p.Gln52Gln synonymous ANKRD30B 1 82432 1.21312E-5 41216 0 NA
18-14748578-C-A p.Leu54Met missense ANKRD30B 10 82410 1.21344E-4 41205 0 4.14514E-4
18-14748607-C-G p.Pro63Pro synonymous ANKRD30B 2 82330 2.42925E-5 41165 0 NA
18-14748613-C-G p.Asn65Lys missense ANKRD30B 1 82266 1.21557E-5 41133 0 NA
18-14748615-T-A p.Leu66Gln missense ANKRD30B 1 82276 1.21542E-5 41138 0 4.49357E-5
18-14748627-A-G p.Asp70Gly missense ANKRD30B 1 82160 1.21714E-5 41080 0 NA
18-14748630-TGAA-T p.Lys73del disruptive_inframe_deletion ANKRD30B 4 82138 4.86985E-5 41069 0 1.17632E-5
18-14748630-T-C p.Met71Thr missense ANKRD30B 1 82140 1.21743E-5 41070 0 4.80631E-5
18-14748632-A-C p.Lys72Gln missense ANKRD30B 2 82136 2.43499E-5 41068 0 5.94806E-6
18-14748632-A-G p.Lys72Glu missense ANKRD30B 1 82136 1.21749E-5 41068 0 NA
18-14748635-A-G p.Lys73Glu missense ANKRD30B 1 82088 1.2182E-5 41044 0 3.18837E-5
18-14752560-C-T c.222-5C>T splice_region ANKRD30B 8 82478 9.69956E-5 41239 0 6.37146E-5
18-14752561-G-A c.222-4G>A splice_region ANKRD30B 5 82470 6.06281E-5 41235 0 6.32631E-5
18-14752561-G-C c.222-4G>C splice_region ANKRD30B 2 82470 2.42512E-5 41235 0 NA
18-14752565-G-A p.Arg74Arg splice_region+synonymous ANKRD30B 1 82506 1.21203E-5 41253 0 0.00106157
18-14752575-C-T p.His78Tyr missense ANKRD30B 6 82524 7.27061E-5 41262 0 1.31114E-4
18-14752591-A-C p.Asn83Thr missense ANKRD30B 1 82566 1.21115E-5 41283 0 NA
18-14752601-A-G p.Ala86Ala synonymous ANKRD30B 531 82544 0.00643293 41272 3 0.00631228
18-14752612-C-T p.Thr90Ile missense ANKRD30B 1 82554 1.21133E-5 41277 0 4.05655E-5
18-14752613-A-C p.Thr90Thr synonymous ANKRD30B 3 82556 3.6339E-5 41278 0 2.03264E-5
18-14752621-T-C p.Val93Ala missense ANKRD30B 1 82540 1.21153E-5 41270 0 4.06405E-6
18-14752625-C-T p.Asp94Asp synonymous ANKRD30B 2 82526 2.42348E-5 41263 0 3.23025E-5
18-14752625-CAGAA-C p.Arg95fs frameshift ANKRD30B 2 82526 2.42348E-5 41263 0 NA
18-14752632-T-G p.Cys97Gly missense ANKRD30B 3 82482 3.63716E-5 41241 0 0.00106496
18-14752641-A-G p.Asn100Asp missense ANKRD30B 1 82456 1.21277E-5 41228 0 1.14529E-5
18-14752655-C-T p.Gly104Gly synonymous ANKRD30B 32 82356 3.88557E-4 41178 0 6.25E-4
18-14752656-G-A p.Glu105Lys missense ANKRD30B 1 82374 1.21398E-5 41187 0 1.26218E-5
18-14752659-G-A p.Gly106Arg missense ANKRD30B 1 82388 1.21377E-5 41194 0 2.55846E-5
18-14752668-C-T p.Pro109Ser missense ANKRD30B 4 82388 4.85508E-5 41194 0 4.3086E-6
18-14752831-C-A c.337-7C>A splice_region ANKRD30B 1 83220 1.20163E-5 41610 0 NA
18-14752832-T-C c.337-6T>C splice_region ANKRD30B 1 83230 1.20149E-5 41615 0 4.1908E-6
18-14752837-G-A c.337-1G>A splice_acceptor ANKRD30B 2 83248 2.40246E-5 41624 1 NA
18-14752841-C-G p.Leu114Val missense ANKRD30B 3 83262 3.60308E-5 41631 0 NA
18-14752849-C-T p.Cys116Cys synonymous ANKRD30B 67 83278 8.04534E-4 41639 2 0.00605449
18-14752850-G-A p.Glu117Lys missense ANKRD30B 2 83282 2.40148E-5 41641 0 1.65507E-5
18-14752863-G-A p.Cys121Tyr missense ANKRD30B 1 83278 1.2008E-5 41639 0 1.64628E-5
18-14752863-G-C p.Cys121Ser missense ANKRD30B 1 83278 1.2008E-5 41639 0 NA
18-14752882-T-A p.Asp127Glu missense ANKRD30B 2 83290 2.40125E-5 41645 0 1.01418E-4
18-14752883-G-T p.Ala128Ser missense ANKRD30B 1 83294 1.20057E-5 41647 0 NA
18-14752888-T-C p.Gly129Gly synonymous ANKRD30B 1 83286 1.20068E-5 41643 0 NA
18-14752909-T-C p.Asp136Asp synonymous ANKRD30B 2 83266 2.40194E-5 41633 0 1.14784E-5
18-14752910-G-A p.Val137Met missense ANKRD30B 1 83268 1.20094E-5 41634 0 2.30091E-5
18-14752915-T-C p.Tyr138Tyr synonymous ANKRD30B 1 83264 1.201E-5 41632 0 NA
18-14752917-G-A p.Gly139Asp missense ANKRD30B 2 83268 2.40188E-5 41634 0 NA
18-14752923-C-T p.Thr141Met missense ANKRD30B 2 83258 2.40217E-5 41629 0 7.28551E-5
18-14752923-C-G p.Thr141Arg missense ANKRD30B 1 83258 1.20109E-5 41629 0 6.25E-4
18-14752936-T-C p.Tyr145Tyr synonymous ANKRD30B 3 83242 3.60395E-5 41621 0 2.33487E-5
18-14752939-C-T p.Ala146Ala synonymous ANKRD30B 6 83250 7.20721E-5 41625 0 1.17625E-5
18-14752939-C-A p.Ala146Ala synonymous ANKRD30B 1 83250 1.2012E-5 41625 0 4.32175E-6
18-14752940-G-A p.Val147Ile missense ANKRD30B 2 83246 2.40252E-5 41623 0 4.70621E-5
18-14752949-G-A p.Glu150Lys missense ANKRD30B 2 83240 2.40269E-5 41620 0 NA
18-14752957-G-A p.Leu152Leu synonymous ANKRD30B 39308 82478 0.476588 41239 9418 0.52975
18-14752961-A-G p.Met154Val missense ANKRD30B 5 83222 6.00803E-5 41611 0 2.56246E-4
18-14752962-T-C p.Met154Thr missense ANKRD30B 1 83214 1.20172E-5 41607 0 NA
18-14752967-G-A p.Ala156Thr missense ANKRD30B 1 83202 1.20189E-5 41601 0 NA
18-14752976-C-T p.Leu159Leu synonymous ANKRD30B 18 83210 2.1632E-4 41605 0 2.86642E-4
18-14752986-G-A p.Gly162Asp missense ANKRD30B 17 83188 2.04356E-4 41594 0 2.5481E-4
18-14752990-A-G p.Ala163Ala synonymous ANKRD30B 1 83178 1.20224E-5 41589 0 3.18451E-5
18-14752993-C-T p.Val164Val synonymous ANKRD30B 1 83122 1.20305E-5 41561 0 NA
18-14752996-C-T p.Ile165Ile synonymous ANKRD30B 46 83082 5.5367E-4 41541 0 8.92459E-4
18-14752997-G-A p.Glu166Lys missense ANKRD30B 2 83070 2.40761E-5 41535 0 4.46495E-5
18-14753008-C-G p.Asn169Lys missense ANKRD30B 1 82958 1.20543E-5 41479 0 1.61582E-5
18-14753010-AG-A p.Val167fs frameshift ANKRD30B 2 82924 2.41185E-5 41462 0 5.06073E-4
18-14753015-GACATTA-G c.510+5_510+10delACATTA splice_region ANKRD30B 1 82812 1.20755E-5 41406 0 NA
18-14754893-T-A c.511-5T>A splice_region ANKRD30B 3 81332 3.68858E-5 40666 0 3.18471E-5
18-14754898-G-C p.Ala171Pro missense+splice_region ANKRD30B 1 81658 1.22462E-5 40829 0 NA
18-14754898-G-A p.Ala171Thr missense+splice_region ANKRD30B 1 81658 1.22462E-5 40829 0 NA
18-14754910-C-T p.Pro175Ser missense ANKRD30B 2 82206 2.43291E-5 41103 0 NA
18-14754944-A-C p.Gln186Pro missense ANKRD30B 5 82574 6.05517E-5 41287 0 0.00101626
18-14754947-CTG-C p.Val188fs frameshift ANKRD30B 2 82572 2.42213E-5 41286 0 7.33891E-5
18-14754949-G-C p.Val188Leu missense ANKRD30B 2 82550 2.42277E-5 41275 0 NA
18-14754949-G-GTGGAA p.Phe190fs frameshift ANKRD30B 1 82550 1.21139E-5 41275 0 NA
18-14754955-T-A p.Phe190Ile missense ANKRD30B 2 82546 2.42289E-5 41273 0 5.81727E-6
18-14754964-A-G p.Thr193Ala missense ANKRD30B 38 82424 4.61031E-4 41212 0 5.86717E-4
18-14754968-A-AAAATGC p.Asn199_Ala200insAlaAsn disruptive_inframe_insertion ANKRD30B 19 82410 2.30555E-4 41205 0 4.13934E-4
18-14754979-G-GCAAATT p.Asn199_Ala200insSerAsn disruptive_inframe_insertion ANKRD30B 1 82168 1.21702E-5 41084 0 1.31091E-5
18-14754984-C-T p.Asn199Asn synonymous ANKRD30B 27 82014 3.29212E-4 41007 0 0.00204499
18-14754985-G-A p.Ala200Thr missense ANKRD30B 1 82024 1.21916E-5 41012 0 4.36338E-5
18-14754997-T-A p.Ser204Thr missense ANKRD30B 3 81546 3.6789E-5 40773 0 3.18898E-5
18-14755005-G-C c.617+1G>C splice_donor ANKRD30B 1 80704 1.2391E-5 40352 0 NA
18-14755008-T-C c.617+4T>C splice_region ANKRD30B 1 80084 1.24869E-5 40042 0 NA
18-14757817-A-G p.Thr207Thr synonymous ANKRD30B 1 83180 1.20221E-5 41590 0 1.21634E-5
18-14757825-T-C p.Met210Thr missense ANKRD30B 3 83192 3.60612E-5 41596 0 4.02826E-6
18-14757828-T-C p.Leu211Pro missense ANKRD30B 2 83202 2.40379E-5 41601 0 1.70683E-5
18-14757850-A-G p.Ser218Ser synonymous ANKRD30B 1 83210 1.20178E-5 41605 0 NA
18-14757855-T-C p.Ile220Thr missense ANKRD30B 1 83218 1.20166E-5 41609 0 NA
18-14757860-G-A p.Gly222Ser missense ANKRD30B 1 83206 1.20184E-5 41603 0 6.25E-4
18-14757860-G-T p.Gly222Cys missense ANKRD30B 1 83206 1.20184E-5 41603 0 NA
18-14757874-G-A p.Gln226Gln synonymous ANKRD30B 1 83214 1.20172E-5 41607 0 3.1839E-5
18-14757880-T-C p.Asn228Asn synonymous ANKRD30B 1 83228 1.20152E-5 41614 0 3.22188E-5
18-14757887-G-A p.Val231Ile missense ANKRD30B 10 83212 1.20175E-4 41606 0 1.41861E-4
18-14757896-G-T p.Glu234* stop_gained ANKRD30B 1 83220 1.20163E-5 41610 0 NA
18-14757901-C-T p.Asp235Asp synonymous ANKRD30B 1 83218 1.20166E-5 41609 0 1.11401E-5
18-14757917-G-C p.Ala241Pro missense ANKRD30B 1 83208 1.20181E-5 41604 0 1.27466E-5
18-14757923-C-T p.Arg243Cys missense ANKRD30B 3 83194 3.60603E-5 41597 0 6.76993E-5
18-14757935-G-T p.Ala247Ser missense ANKRD30B 4 83176 4.80908E-5 41588 0 1.09759E-4
18-14757956-G-T c.755+5G>T splice_region ANKRD30B 1 83080 1.20366E-5 41540 0 NA
18-14760549-A-G c.756-4A>G splice_region ANKRD30B 1 78392 1.27564E-5 39196 0 NA
18-14760552-G-A c.756-1G>A splice_acceptor ANKRD30B 1 78522 1.27353E-5 39261 0 3.1904E-5
18-14760561-A-G p.Gln255Arg missense ANKRD30B 2 78816 2.53756E-5 39408 0 7.10227E-6
18-14760575-C-G p.His260Asp missense ANKRD30B 2 79060 2.52972E-5 39530 0 NA
18-14760577-T-C p.His260His synonymous ANKRD30B 3 79134 3.79104E-5 39567 0 1.37103E-5
18-14760581-C-T p.Arg262* stop_gained ANKRD30B 1 79110 1.26406E-5 39555 0 6.86135E-6
18-14760582-G-A p.Arg262Gln missense ANKRD30B 2 79130 2.52749E-5 39565 0 6.38407E-5
18-14760583-A-G p.Arg262Arg synonymous ANKRD30B 1 79210 1.26247E-5 39605 0 3.18695E-5
18-14760607-T-C p.Asn270Asn synonymous ANKRD30B 1 79056 1.26493E-5 39528 0 6.65097E-6
18-14760614-C-T p.Pro273Ser missense ANKRD30B 7 79128 8.84643E-5 39564 0 6.106E-5
18-14760618-G-A c.820+1G>A splice_donor ANKRD30B 1 79030 1.26534E-5 39515 0 NA
18-14760625-T-G c.820+8T>G splice_region ANKRD30B 1 78908 1.2673E-5 39454 0 NA
18-14763690-A-G p.Thr276Ala missense ANKRD30B 2 83254 2.40229E-5 41627 0 NA
18-14763707-T-C p.Pro281Pro synonymous ANKRD30B 2 83318 2.40044E-5 41659 0 8.726E-6
18-14763711-G-A p.Glu283Lys missense ANKRD30B 9 83328 1.08007E-4 41664 0 6.36862E-5
18-14763726-G-A p.Ala288Thr missense ANKRD30B 4 83368 4.798E-5 41684 0 3.18471E-5
18-14763727-C-T p.Ala288Val missense ANKRD30B 1 83370 1.19947E-5 41685 0 1.60728E-5
18-14763728-G-A p.Ala288Ala synonymous ANKRD30B 5 83368 5.9975E-5 41684 0 3.41787E-5
18-14763729-G-T p.Glu289* stop_gained ANKRD30B 3 83370 3.59842E-5 41685 0 NA
18-14763738-C-T p.Pro292Ser missense ANKRD30B 1 83382 1.1993E-5 41691 0 8.51629E-6
18-14763745-C-T p.Thr294Met missense ANKRD30B 247 83378 0.00296241 41689 0 0.00286945
18-14763746-G-A p.Thr294Thr synonymous ANKRD30B 4 83388 4.79685E-5 41694 0 3.40414E-5
18-14763749-T-G p.Ala295Ala synonymous ANKRD30B 1 83392 1.19916E-5 41696 0 1.70103E-5
18-14763752-A-C p.Glu296Asp missense ANKRD30B 2 83392 2.39831E-5 41696 0 3.40084E-5
18-14763767-A-G p.Lys301Lys synonymous ANKRD30B 4 83400 4.79616E-5 41700 0 1.27413E-4
18-14763774-G-A p.Asp304Asn missense ANKRD30B 8 83408 9.59141E-5 41704 0 1.27405E-4
18-14763776-C-T p.Asp304Asp synonymous ANKRD30B 17 83404 2.03827E-4 41702 1 0.00125
18-14763786-C-T p.Arg308Cys missense ANKRD30B 5 83398 5.99535E-5 41699 0 6.25E-4
18-14763786-C-A p.Arg308Ser missense ANKRD30B 1 83398 1.19907E-5 41699 0 3.18532E-5
18-14763787-G-A p.Arg308His missense ANKRD30B 2 83396 2.3982E-5 41698 0 8.64394E-6
18-14763792-G-C p.Val310Leu missense ANKRD30B 1 83394 1.19913E-5 41697 0 NA
18-14763801-A-G p.Thr313Ala missense ANKRD30B 1 83396 1.1991E-5 41698 0 NA
18-14763802-C-T p.Thr313Met missense ANKRD30B 5 83398 5.99535E-5 41699 0 8.79183E-5
18-14763803-G-A p.Thr313Thr synonymous ANKRD30B 8 83394 9.59302E-5 41697 0 9.56084E-5
18-14763805-C-T p.Ser314Phe missense ANKRD30B 2 83394 2.39825E-5 41697 0 1.05746E-4
18-14763821-T-C p.Cys319Cys synonymous ANKRD30B 1 83392 1.19916E-5 41696 0 NA
18-14763829-A-G p.Lys322Arg missense ANKRD30B 2 83388 2.39843E-5 41694 0 NA
18-14763837-T-G p.Ser325Ala missense ANKRD30B 1 83388 1.19921E-5 41694 0 NA
18-14763844-A-C p.Lys327Thr missense ANKRD30B 3 83384 3.59781E-5 41692 0 NA
18-14763845-G-T p.Lys327Asn missense ANKRD30B 1 83384 1.19927E-5 41692 0 8.11583E-6
18-14763847-T-C p.Phe328Ser missense ANKRD30B 1 83380 1.19933E-5 41690 0 4.05439E-6
18-14763879-AT-A p.Leu340fs frameshift ANKRD30B 1 83360 1.19962E-5 41680 0 NA
18-14763899-A-C p.Glu345Asp missense ANKRD30B 2 83312 2.40061E-5 41656 0 NA
18-14763901-C-T p.Thr346Ile missense ANKRD30B 1 83306 1.20039E-5 41653 0 3.09164E-5
18-14763911-A-C p.Lys349Asn missense ANKRD30B 4 83294 4.80227E-5 41647 0 3.18451E-5
18-14763913-T-A p.Phe350Tyr missense ANKRD30B 11 83278 1.32088E-4 41639 0 1.36952E-4
18-14763919-G-A p.Trp352* stop_gained ANKRD30B 6 83256 7.20669E-5 41628 0 1.59816E-4
18-14763921-C-CAAAAGA p.Pro353delinsGlnLysThr disruptive_inframe_insertion ANKRD30B 2 83254 2.40229E-5 41627 0 5.38677E-5
18-14763922-C-A p.Pro353Gln missense ANKRD30B 2 83260 2.40211E-5 41630 0 5.39875E-5
18-14763949-C-T p.Thr362Ile missense ANKRD30B 3 83178 3.60672E-5 41589 0 4.18708E-6
18-14763956-G-T p.Glu364Asp missense ANKRD30B 3 83156 3.60768E-5 41578 0 8.45273E-6
18-14763956-G-A p.Glu364Glu synonymous ANKRD30B 1 83156 1.20256E-5 41578 0 1.21729E-5
18-14763966-A-G p.Thr368Ala missense ANKRD30B 2 83102 2.40668E-5 41551 0 5.08375E-5
18-14763980-T-C p.Thr372Thr synonymous ANKRD30B 1 83016 1.20459E-5 41508 0 NA
18-14763986-C-T p.Cys374Cys synonymous ANKRD30B 2 82974 2.41039E-5 41487 0 1.13068E-4
18-14763987-G-A p.Val375Met missense ANKRD30B 601 82968 0.00724376 41484 14 0.0164919
18-14763990-G-A p.Ala376Thr missense ANKRD30B 1 82990 1.20496E-5 41495 0 4.46213E-6
18-14763992-A-G p.Ala376Ala synonymous ANKRD30B 15 82992 1.8074E-4 41496 2 0.00129485
18-14763996-G-T p.Val378Leu missense ANKRD30B 2 82960 2.4108E-5 41480 0 1.4937E-5
18-14764000-C-A p.Thr379Lys missense ANKRD30B 4 82970 4.82102E-5 41485 0 3.08632E-5
18-14764000-C-T p.Thr379Ile missense ANKRD30B 1 82970 1.20525E-5 41485 0 4.62949E-5
18-14764008-A-G p.Lys382Glu missense ANKRD30B 4 82950 4.82218E-5 41475 0 NA
18-14764029-G-A p.Gly389Arg missense ANKRD30B 1 82902 1.20624E-5 41451 0 5.10777E-6
18-14764033-C-T p.Thr390Ile missense ANKRD30B 1 82914 1.20607E-5 41457 0 1.89208E-5
18-14764041-A-G p.Met393Val missense ANKRD30B 1 82848 1.20703E-5 41424 0 NA
18-14764059-A-G p.Lys399Glu missense ANKRD30B 1 82798 1.20776E-5 41399 0 1.27356E-4
18-14764065-A-G p.Thr401Ala missense ANKRD30B 1 82756 1.20837E-5 41378 0 NA
18-14764067-A-G p.Thr401Thr synonymous ANKRD30B 1 82750 1.20846E-5 41375 0 NA
18-14764073-A-G p.Thr403Thr synonymous ANKRD30B 18 82658 2.17765E-4 41329 0 1.30965E-4
18-14764077-G-A p.Ala405Thr missense ANKRD30B 3 82624 3.63091E-5 41312 0 NA
18-14764078-C-G p.Ala405Gly missense ANKRD30B 2 82604 2.42119E-5 41302 0 1.34427E-5
18-14764082-T-C p.Ser406Ser synonymous ANKRD30B 2 82504 2.42412E-5 41252 0 7.08687E-6
18-14764087-A-G p.Asn408Ser missense+splice_region ANKRD30B 27 82430 3.27551E-4 41215 0 5.41401E-4
18-14764087-A-ATGGTAAGATGCTTGAG p.Met393fs frameshift ANKRD30B 2 82430 2.4263E-5 41215 0 NA
18-14764089-G-A p.Val409Met missense+splice_region ANKRD30B 1 82366 1.21409E-5 41183 0 NA
18-14764092-A-G c.1225+3A>G splice_region ANKRD30B 6 82288 7.29146E-5 41144 0 6.3674E-5
18-14769338-A-C c.1226-4A>C splice_region ANKRD30B 1 80136 1.24788E-5 40068 0 6.39918E-5
18-14769348-T-A p.Val411Glu missense ANKRD30B 9 80414 1.11921E-4 40207 0 9.55049E-5
18-14769363-C-T p.Pro416Leu missense ANKRD30B 3 80514 3.72606E-5 40257 0 1.4828E-4
18-14769379-CTT-C c.1256+8_1256+9delTT splice_region ANKRD30B 1 80488 1.24242E-5 40244 0 3.18613E-5
18-14772164-C-T p.Gly422Gly synonymous ANKRD30B 3 80006 3.74972E-5 40003 0 3.1904E-5
18-14772168-C-T p.Arg424Trp missense ANKRD30B 1 79876 1.25194E-5 39938 0 4.51834E-5
18-14772169-G-A p.Arg424Gln missense ANKRD30B 2 79894 2.50332E-5 39947 0 4.51182E-5
18-14772170-G-A p.Arg424Arg synonymous ANKRD30B 4 79966 5.00213E-5 39983 0 1.38251E-5
18-14772172-C-G p.Thr425Ser missense ANKRD30B 1 79916 1.25131E-5 39958 0 NA
18-14772175-T-C p.Ile426Thr missense ANKRD30B 185 80030 0.00231163 40015 1 0.0028353
18-14772176-T-C p.Ile426Ile synonymous ANKRD30B 51 80058 6.37038E-4 40029 1 0.00251256
18-14772189-T-C p.Cys431Arg missense ANKRD30B 1 80176 1.24726E-5 40088 0 3.18654E-5
18-14772191-T-C p.Cys431Cys synonymous ANKRD30B 2 80226 2.49296E-5 40113 0 NA
18-14772209-C-G p.Asp437Glu missense ANKRD30B 9 80086 1.12379E-4 40043 0 6.91974E-6
18-14772214-A-G p.Asn439Ser missense ANKRD30B 1 79950 1.25078E-5 39975 0 NA
18-14772221-T-C p.Ala441Ala synonymous ANKRD30B 1 79786 1.25335E-5 39893 0 NA
18-14772229-TAA-T c.1329+3_1329+4delAA splice_region ANKRD30B 1 79620 1.25597E-5 39810 0 NA
18-14772234-T-C c.1329+7T>C splice_region ANKRD30B 1 79498 1.25789E-5 39749 0 3.18654E-5
18-14777984-A-G p.Ile444Val missense+splice_region ANKRD30B 1 81754 1.22318E-5 40877 0 6.67619E-6
18-14777986-T-C p.Ile444Ile splice_region+synonymous ANKRD30B 1 81760 1.22309E-5 40880 0 NA
18-14777997-G-A p.Ser448Asn missense ANKRD30B 1 81910 1.22085E-5 40955 0 NA
18-14777997-G-T p.Ser448Ile missense ANKRD30B 2 81910 2.4417E-5 40955 0 1.29249E-5
18-14778002-G-A p.Ala450Thr missense ANKRD30B 2 81948 2.44057E-5 40974 0 1.93199E-5
18-14778014-A-T p.Thr454Ser missense ANKRD30B 1 82010 1.21936E-5 41005 0 NA
18-14778015-C-T p.Thr454Met missense ANKRD30B 6 81976 7.31922E-5 40988 0 6.25E-4
18-14778016-G-GTGTT p.Pro457fs frameshift ANKRD30B 3 81990 3.65898E-5 40995 0 NA
18-14778016-G-A p.Thr454Thr synonymous ANKRD30B 1 81988 1.21969E-5 40994 0 3.20607E-5
18-14778034-A-T p.Thr460Thr synonymous ANKRD30B 1 82014 1.2193E-5 41007 0 NA
18-14778034-A-G p.Thr460Thr synonymous ANKRD30B 1 82014 1.2193E-5 41007 0 NA
18-14778037-T-A p.Tyr461* stop_gained ANKRD30B 1 81986 1.21972E-5 40993 0 NA
18-14778068-A-G p.Ile472Val missense ANKRD30B 3 81634 3.67494E-5 40817 0 NA
18-14778080-A-T c.1420+6A>T splice_region ANKRD30B 13 81258 1.59984E-4 40629 0 1.91046E-4
18-14779951-A-AT c.1421-8_1421-7insT splice_region ANKRD30B 1 81844 1.22184E-5 40922 0 NA
18-14779958-G-A c.1421-1G>A splice_acceptor ANKRD30B 1 81944 1.22035E-5 40972 0 1.70745E-5
18-14779969-C-G p.Phe477Leu missense ANKRD30B 41096 80980 0.507483 40490 10516 0.468334
18-14779969-C-T p.Phe477Phe synonymous ANKRD30B 3 82122 3.6531E-5 41061 0 NA
18-14779975-A-G p.Ser479Ser synonymous ANKRD30B 2 82214 2.43268E-5 41107 0 8.36106E-6
18-14779983-A-T p.Lys482Ile missense ANKRD30B 1 82244 1.21589E-5 41122 0 NA
18-14779985-C-T p.Arg483* stop_gained ANKRD30B 1 82200 1.21655E-5 41100 0 6.69624E-5
18-14779986-G-A p.Arg483Gln missense ANKRD30B 1 82190 1.21669E-5 41095 0 0.314833
18-14779989-A-G p.Glu484Gly missense ANKRD30B 1 82248 1.21584E-5 41124 0 4.05124E-6
18-14779995-A-T p.Asp486Val missense ANKRD30B 2 82210 2.43279E-5 41105 0 NA
18-14780003-T-C p.Tyr489His missense ANKRD30B 6 82182 7.30087E-5 41091 0 7.55769E-5
18-14780007-C-T p.Ser490Phe missense ANKRD30B 6 82188 7.30034E-5 41094 0 7.06262E-4
18-14782527-G-A p.Ser495Asn missense+splice_region ANKRD30B 1 81160 1.23213E-5 40580 0 NA
18-14782531-CTT-C p.Phe497fs frameshift ANKRD30B 1 81438 1.22793E-5 40719 0 NA
18-14782537-G-C p.Glu498Asp missense ANKRD30B 1 81548 1.22627E-5 40774 0 NA
18-14782539-G-A p.Ser499Asn missense ANKRD30B 6 81600 7.35294E-5 40800 0 3.84497E-5
18-14782550-A-G p.Thr503Ala missense ANKRD30B 2 81746 2.4466E-5 40873 0 1.30022E-5
18-14782574-A-G p.Met511Val missense ANKRD30B 1 81478 1.22733E-5 40739 0 NA
18-14782594-GATAA-G p.Asn519fs frameshift ANKRD30B 6 81332 7.37717E-5 40666 0 5.25045E-5
18-14782599-A-G p.Asn519Ser missense ANKRD30B 4 81260 4.92247E-5 40630 0 NA
18-14782607-G-C p.Val522Leu missense ANKRD30B 3 81034 3.70215E-5 40517 0 NA
18-14782607-G-T p.Val522Leu missense ANKRD30B 6 81034 7.4043E-5 40517 0 1.01438E-5
18-14784341-C-T p.Pro526Leu missense ANKRD30B 1 82814 1.20753E-5 41407 0 8.58974E-6
18-14784342-T-C p.Pro526Pro synonymous ANKRD30B 2 82812 2.41511E-5 41406 0 3.18552E-5
18-14784348-G-T p.Lys528Asn missense ANKRD30B 2 82790 2.41575E-5 41395 0 9.55597E-5
18-14784349-C-T p.Pro529Ser missense ANKRD30B 1 82776 1.20808E-5 41388 0 6.25E-4
18-14784360-C-T p.Phe532Phe synonymous ANKRD30B 48 82758 5.80004E-4 41379 0 6.03102E-4
18-14784363-G-A p.Lys533Lys splice_region+synonymous ANKRD30B 1 82728 1.20878E-5 41364 0 NA
18-14784364-GTATT-G c.1599+2_1599+5delTATT splice_donor ANKRD30B 1 82716 1.20896E-5 41358 0 NA
18-14784467-C-T p.Ala535Ala synonymous ANKRD30B 35 81774 4.28009E-4 40887 0 4.17728E-4
18-14784468-G-A p.Val536Ile missense ANKRD30B 38 81762 4.64764E-4 40881 0 0.00149428
18-14784478-A-G p.Gln539Arg missense ANKRD30B 2 81744 2.44666E-5 40872 0 NA
18-14784481-A-C p.Lys540Thr missense ANKRD30B 2 81746 2.4466E-5 40873 0 4.01648E-6
18-14784482-G-T p.Lys540Asn missense ANKRD30B 2 81746 2.4466E-5 40873 0 9.99334E-5
18-14784489-C-T p.Pro543Ser missense ANKRD30B 1 81726 1.2236E-5 40863 0 9.56084E-5
18-14784492-A-G p.Asn544Asp missense ANKRD30B 1 81718 1.22372E-5 40859 0 8.32695E-6
18-14784502-T-C p.Phe547Ser missense ANKRD30B 1 81712 1.22381E-5 40856 0 NA
18-14784515-T-C p.Asn551Asn synonymous ANKRD30B 3 81690 3.67242E-5 40845 0 3.33706E-5
18-14784522-A-G p.Thr554Ala missense ANKRD30B 1 81672 1.22441E-5 40836 0 NA
18-14784524-A-G p.Thr554Thr synonymous ANKRD30B 2 81658 2.44924E-5 40829 0 4.02075E-6
18-14784527-G-A p.Leu555Leu synonymous ANKRD30B 2 81660 2.44918E-5 40830 0 NA
18-14784531-G-A p.Ala557Thr missense ANKRD30B 2 81638 2.44984E-5 40819 0 3.18613E-5
18-14784532-C-A p.Ala557Glu missense+splice_region ANKRD30B 1 81636 1.22495E-5 40818 0 NA
18-14787045-G-A p.Met560Ile missense ANKRD30B 2 82280 2.43072E-5 41140 0 6.25E-4
18-14787050-C-G p.Pro562Arg missense ANKRD30B 1 82308 1.21495E-5 41154 0 NA
18-14787060-C-T p.Ser565Ser synonymous ANKRD30B 4 82296 4.8605E-5 41148 0 3.18735E-5
18-14787070-G-T p.Asp569Tyr missense ANKRD30B 1 82296 1.21513E-5 41148 0 8.47788E-6
18-14787072-C-T p.Asp569Asp synonymous ANKRD30B 11 82242 1.33752E-4 41121 0 6.25E-4
18-14787073-G-A p.Asp570Asn missense ANKRD30B 4 82276 4.86169E-5 41138 0 6.04137E-5
18-14787075-T-C p.Asp570Asp synonymous ANKRD30B 1 82314 1.21486E-5 41157 0 3.1839E-5
18-14787096-T-G p.Ser577Ser synonymous ANKRD30B 3 82304 3.64502E-5 41152 0 NA
18-14787099-G-A p.Glu578Glu splice_region+synonymous ANKRD30B 1 82268 1.21554E-5 41134 0 4.04433E-6
18-14787101-T-A c.1734+2T>A splice_donor ANKRD30B 2 82288 2.43049E-5 41144 0 1.72384E-5
18-14787102-A-C c.1734+3A>C splice_region ANKRD30B 5 82238 6.07991E-5 41119 0 8.14047E-6
18-14791397-C-T c.1735-3C>T splice_region ANKRD30B 1 81774 1.22288E-5 40887 0 3.18654E-5
18-14791411-G-C p.Glu582Asp missense ANKRD30B 1 82188 1.21672E-5 41094 0 9.55718E-5
18-14791413-C-T p.Thr583Met missense ANKRD30B 14 82182 1.70354E-4 41091 0 5.10204E-4
18-14791414-G-A p.Thr583Thr synonymous ANKRD30B 2 82260 2.43132E-5 41130 0 8.37325E-6
18-14791415-G-A p.Val584Ile missense ANKRD30B 1 82304 1.21501E-5 41152 0 NA
18-14791425-A-C p.Lys587Thr missense ANKRD30B 2 82472 2.42507E-5 41236 0 8.1316E-6
18-14791430-G-A p.Val589Met missense ANKRD30B 1 82522 1.2118E-5 41261 0 4.04944E-6
18-14791431-T-C p.Val589Ala missense ANKRD30B 1 82528 1.21171E-5 41264 0 NA
18-14791432-G-A p.Val589Val synonymous ANKRD30B 1 82532 1.21165E-5 41266 0 8.35869E-6
18-14791446-C-T p.Ala594Val missense ANKRD30B 9 82652 1.0889E-4 41326 0 6.87408E-5
18-14791446-C-G p.Ala594Gly missense ANKRD30B 1 82652 1.20989E-5 41326 0 NA
18-14791450-A-T p.Thr595Thr synonymous ANKRD30B 1 82676 1.20954E-5 41338 0 NA
18-14791451-C-T p.His596Tyr missense ANKRD30B 3 82682 3.62836E-5 41341 0 NA
18-14791452-A-G p.His596Arg missense ANKRD30B 1 82674 1.20957E-5 41337 0 4.04632E-6
18-14791453-T-G p.His596Gln missense ANKRD30B 2 82656 2.41967E-5 41328 0 3.18552E-5
18-14791456-A-G p.Gln597Gln synonymous ANKRD30B 2 82672 2.4192E-5 41336 0 3.18431E-5
18-14791460-G-T p.Glu599* stop_gained ANKRD30B 5 82664 6.04858E-5 41332 0 3.10496E-4
18-14791465-C-A p.Phe600Leu missense ANKRD30B 47 82628 5.68814E-4 41314 0 3.28643E-4
18-14791465-C-T p.Phe600Phe synonymous ANKRD30B 7 82630 8.4715E-5 41315 0 6.49171E-5
18-14791466-G-A p.Asp601Asn missense ANKRD30B 3 82626 3.63082E-5 41313 0 5.06073E-4
18-14791466-G-C p.Asp601His missense ANKRD30B 1 82626 1.21027E-5 41313 0 4.06729E-6
18-14791468-T-C p.Asp601Asp synonymous ANKRD30B 3 82594 3.63222E-5 41297 0 2.52751E-5
18-14791470-C-A p.Thr602Asn missense ANKRD30B 1 82622 1.21033E-5 41311 0 3.18959E-5
18-14791475-A-C p.Ser604Arg missense ANKRD30B 3 82612 3.63143E-5 41306 0 3.18593E-5
18-14791477-T-C p.Ser604Ser synonymous ANKRD30B 1 82590 1.2108E-5 41295 0 1.23101E-5
18-14791484-T-C p.Leu607Leu synonymous ANKRD30B 3 82486 3.63698E-5 41243 0 NA
18-14791491-G-C c.1825+1G>C splice_donor ANKRD30B 1 82374 1.21398E-5 41187 0 NA
18-14791493-A-T c.1825+3A>T splice_region ANKRD30B 2 82310 2.42984E-5 41155 0 NA
18-14791495-G-C c.1825+5G>C splice_region ANKRD30B 1 82252 1.21578E-5 41126 0 6.14887E-5
18-14791498-C-A c.1825+8C>A splice_region ANKRD30B 1 82144 1.21737E-5 41072 0 8.85692E-6
18-14796212-A-T c.1826-8A>T splice_region ANKRD30B 38 81430 4.66658E-4 40715 0 6.3743E-4
18-14796213-C-T c.1826-7C>T splice_region ANKRD30B 1 81440 1.2279E-5 40720 0 1.66744E-5
18-14796214-G-T c.1826-6G>T splice_region ANKRD30B 40768 77680 0.52482 38840 10693 0.579558
18-14796214-G-A c.1826-6G>A splice_region ANKRD30B 8 81446 9.82246E-5 40723 0 9.58528E-5
18-14796219-G-A c.1826-1G>A splice_acceptor ANKRD30B 1 81470 1.22745E-5 40735 0 NA
18-14796222-T-A p.Ser610Thr missense+splice_region ANKRD30B 50 81492 6.13557E-4 40746 0 9.87702E-4
18-14796225-C-T p.Pro611Ser missense ANKRD30B 1 81506 1.2269E-5 40753 0 NA
18-14796229-T-A p.Val612Asp missense ANKRD30B 4 81504 4.90773E-5 40752 0 4.02544E-5
18-14796235-A-C p.Asp614Ala missense ANKRD30B 1 81526 1.2266E-5 40763 0 NA
18-14796236-T-C p.Asp614Asp synonymous ANKRD30B 192 81522 0.00235519 40761 0 0.00429975
18-14796238-G-T p.Gly615Val missense ANKRD30B 2 81514 2.45357E-5 40757 0 4.02405E-6
18-14796255-AC-A c.1854+8delC splice_region ANKRD30B 3 81584 3.67719E-5 40792 0 3.18735E-5
18-14796256-C-A c.1854+8C>A splice_region ANKRD30B 1 81584 1.22573E-5 40792 0 NA
18-14796334-C-A c.1855-8C>A splice_region ANKRD30B 444 81558 0.00544398 40779 8 0.0116294
18-14796335-C-T c.1855-7C>T splice_region ANKRD30B 1 81568 1.22597E-5 40784 0 4.54244E-6
18-14796342-C-T p.Pro619Ser missense+splice_region ANKRD30B 1 81518 1.22672E-5 40759 0 NA
18-14796347-C-T p.Thr620Thr synonymous ANKRD30B 15 81460 1.84139E-4 40730 0 6.45995E-4
18-14796348-T-G p.Cys621Gly missense ANKRD30B 1 81452 1.22772E-5 40726 0 6.04278E-5
18-14796352-G-T p.Gly622Val missense ANKRD30B 2 81370 2.45791E-5 40685 0 2.2008E-5
18-14796360-G-A p.Val625Ile missense ANKRD30B 1 81250 1.23077E-5 40625 0 5.07769E-5
18-14796360-G-T p.Val625Phe missense ANKRD30B 2 81250 2.46154E-5 40625 0 NA
18-14796363-T-C p.Ser626Pro missense ANKRD30B 1 81200 1.23153E-5 40600 0 NA
18-14796374-T-C p.Ter620Glnext*? stop_lost ANKRD30B 2 81002 2.46907E-5 40501 0 5.79354E-6
18-14796383-AG-A p.Glu633fs frameshift ANKRD30B 1 80924 1.23573E-5 40462 0 1.05315E-4
18-14796385-A-T p.Glu633Val missense ANKRD30B 1 80890 1.23625E-5 40445 0 1.06353E-4
18-14796401-A-G p.Glu638Glu synonymous ANKRD30B 1 80754 1.23833E-5 40377 0 NA
18-14796403-C-T p.Thr639Ile missense ANKRD30B 1 80742 1.23851E-5 40371 0 NA
18-14796404-A-T p.Thr639Thr synonymous ANKRD30B 73 80736 9.04182E-4 40368 0 0.00120965
18-14796405-T-C p.Phe640Leu missense ANKRD30B 7 80730 8.67088E-5 40365 0 0.00126263
18-14796416-T-C c.1927+2T>C splice_donor ANKRD30B 1 80588 1.24088E-5 40294 0 NA
18-14796418-A-C c.1927+4A>C splice_region ANKRD30B 144 80552 0.00178767 40276 1 0.00194488
18-14797660-A-G p.Glu643Gly missense+splice_region ANKRD30B 1 81468 1.22748E-5 40734 0 NA
18-14797665-C-T p.Pro645Ser missense ANKRD30B 2 81508 2.45375E-5 40754 0 NA
18-14797673-A-T p.Lys647Asn missense ANKRD30B 3 81538 3.67927E-5 40769 0 5.63961E-5
18-14797680-C-G p.Leu650Val missense ANKRD30B 4 81562 4.90424E-5 40781 0 1.72625E-5
18-14797688-G-A p.Lys652Lys splice_region+synonymous ANKRD30B 1 81566 1.226E-5 40783 0 NA
18-14797689-G-A c.1956+1G>A splice_donor ANKRD30B 3 81566 3.678E-5 40783 0 1.74599E-5
18-14797692-A-G c.1956+4A>G splice_region ANKRD30B 1 81602 1.22546E-5 40801 0 NA
18-14797773-C-A c.1957-8C>A splice_region ANKRD30B 1 81566 1.226E-5 40783 0 5.5433E-6
18-14797776-T-C c.1957-5T>C splice_region ANKRD30B 1 81542 1.22636E-5 40771 0 4.19088E-4
18-14797786-C-A p.Thr654Thr synonymous ANKRD30B 1 81392 1.22862E-5 40696 0 NA
18-14797786-C-T p.Thr654Thr synonymous ANKRD30B 1 81394 1.22859E-5 40697 0 NA
18-14797788-G-T p.Cys655Phe missense ANKRD30B 1 81338 1.22944E-5 40669 0 NA
18-14797788-G-A p.Cys655Tyr missense ANKRD30B 4 81332 4.91811E-5 40666 0 2.36658E-5
18-14797791-G-T p.Gly656Val missense ANKRD30B 12 81294 1.47612E-4 40647 0 2.82805E-4
18-14797794-G-A p.Arg657Lys missense ANKRD30B 2 81244 2.46172E-5 40622 0 NA
18-14797795-G-A p.Arg657Arg synonymous ANKRD30B 1 81240 1.23092E-5 40620 0 1.33341E-4
18-14797807-T-C p.Leu661Leu synonymous ANKRD30B 4 81108 4.9317E-5 40554 0 1.27405E-4
18-14797814-A-G p.Lys664Glu missense ANKRD30B 1 81008 1.23445E-5 40504 0 4.16146E-5
18-14797818-C-A p.Ala665Asp missense ANKRD30B 1 80972 1.23499E-5 40486 0 NA
18-14797819-C-G p.Ala665Ala synonymous ANKRD30B 1 80962 1.23515E-5 40481 0 3.18573E-5
18-14797823-G-T p.Glu667* stop_gained ANKRD30B 7 80922 8.65031E-5 40461 0 0.0010211
18-14797837-A-C p.Arg671Ser missense ANKRD30B 7 80800 8.66337E-5 40400 0 6.3674E-5
18-14797842-C-A p.Thr673Lys missense ANKRD30B 1 80754 1.23833E-5 40377 0 NA
18-14797843-A-G p.Thr673Thr synonymous ANKRD30B 1 80736 1.2386E-5 40368 0 6.40558E-6
18-14797854-G-T c.2029+1G>T splice_donor ANKRD30B 2 80598 2.48145E-5 40299 0 1.97057E-5
18-14797857-C-A c.2029+4C>A splice_region ANKRD30B 36 80520 4.47094E-4 40260 1 4.45973E-4
18-14797857-C-T c.2029+4C>T splice_region ANKRD30B 16 80524 1.98699E-4 40262 0 7.4184E-4
18-14799113-T-A p.Asn681Lys missense ANKRD30B 20 80496 2.4846E-4 40248 0 4.00748E-4
18-14799115-A-G p.Asp682Gly missense ANKRD30B 2 80636 2.48028E-5 40318 0 8.05075E-6
18-14799120-C-T p.Leu684Phe missense ANKRD30B 2 80656 2.47967E-5 40328 0 3.18674E-5
18-14799204-GTTTCCAAACCCATTTAGCCTACC-G p.Pro687_Cys689del splice_acceptor ANKRD30B 1 80674 1.23956E-5 40337 0 3.18979E-5
18-14799216-A-C c.2059-6A>C splice_region ANKRD30B 1 80676 1.23953E-5 40338 0 3.18634E-5
18-14799218-T-G c.2059-4T>G splice_region ANKRD30B 3 80676 3.71858E-5 40338 0 3.98565E-5
18-14799221-G-GC p.Thr688fs frameshift ANKRD30B 5 80686 6.19686E-5 40343 0 NA
18-14799224-T-TTA p.Thr688fs frameshift ANKRD30B 5 80672 6.19794E-5 40336 0 NA
18-14799230-T-A p.Cys689* stop_gained ANKRD30B 1 80676 1.23953E-5 40338 0 NA
18-14799231-G-A p.Gly690Arg missense ANKRD30B 1 80674 1.23956E-5 40337 0 NA
18-14799232-G-T p.Gly690Val missense ANKRD30B 2 80666 2.47936E-5 40333 0 4.83673E-5
18-14799233-A-AC p.Arg691fs frameshift ANKRD30B 1 80676 1.23953E-5 40338 0 3.18613E-5
18-14799238-A-C p.Lys692Thr missense ANKRD30B 1 80654 1.23986E-5 40327 0 3.18613E-5
18-14799240-G-T p.Val693Phe missense ANKRD30B 24 80638 2.97626E-4 40319 0 0.00121181
18-14799240-G-C p.Val693Leu missense ANKRD30B 1 80642 1.24005E-5 40321 0 NA
18-14799244-C-A p.Ser694Tyr missense ANKRD30B 1 80622 1.24036E-5 40311 0 NA
18-14799247-T-C p.Leu695Pro missense ANKRD30B 1 80620 1.24039E-5 40310 0 5.93296E-5
18-14799249-C-T p.Pro696Ser missense ANKRD30B 57 80604 7.07161E-4 40302 0 6.41026E-4
18-14799260-T-C p.Ala699Ala synonymous ANKRD30B 3 80570 3.72347E-5 40285 0 3.37633E-5
18-14799273-G-A p.Asp704Asn missense ANKRD30B 1 80458 1.24288E-5 40229 0 NA
18-14799287-C-G p.Phe708Leu missense ANKRD30B 5 80364 6.22169E-5 40182 0 2.05541E-4
18-14799287-C-A p.Phe708Leu missense ANKRD30B 3 80362 3.73311E-5 40181 0 3.18959E-5
18-14799292-CA-C p.Ala711fs frameshift ANKRD30B 1 80338 1.24474E-5 40169 0 NA
18-14799299-A-T c.2131+5A>T splice_region ANKRD30B 2 80228 2.4929E-5 40114 0 NA
18-14799300-T-C c.2131+6T>C splice_region ANKRD30B 2 80210 2.49345E-5 40105 0 5.36431E-5
18-14803730-C-T c.2194-3C>T splice_region ANKRD30B 2 79630 2.51162E-5 39815 0 4.37974E-6
18-14803745-A-G p.Thr736Ala missense ANKRD30B 13 79572 1.63374E-4 39786 0 0.0379581
18-14803745-ACT-A p.Leu738fs frameshift ANKRD30B 1 79912 1.25138E-5 39956 0 1.42098E-5
18-14803757-A-T p.Asn740Tyr missense ANKRD30B 2 79882 2.50369E-5 39941 1 NA
18-14803765-G-A p.Val742Val synonymous ANKRD30B 1 79790 1.25329E-5 39895 0 NA
18-14803781-A-G p.Thr748Ala missense ANKRD30B 1 79544 1.25717E-5 39772 0 9.86368E-6
18-14803798-C-T p.Phe753Phe synonymous ANKRD30B 3 79214 3.78721E-5 39607 0 6.48172E-5
18-14803799-G-C p.Asp754His missense ANKRD30B 4 79146 5.05395E-5 39573 1 NA
18-14803800-A-G p.Asp754Gly missense ANKRD30B 1 79192 1.26275E-5 39596 0 6.51042E-4
18-14808542-T-A c.2285-8T>A splice_region ANKRD30B 577 79528 0.00725531 39764 37 0.017796
18-14808554-T-C p.Ser763Ser synonymous ANKRD30B 2 79926 2.50231E-5 39963 0 1.88512E-5
18-14808556-C-T p.Pro764Leu missense ANKRD30B 18 79992 2.25023E-4 39996 0 1.06991E-4
18-14808557-T-C p.Pro764Pro synonymous ANKRD30B 2 80024 2.49925E-5 40012 0 1.4061E-4
18-14808558-G-A p.Asp765Asn missense ANKRD30B 13 80030 1.62439E-4 40015 1 4.85343E-4
18-14808559-A-T p.Asp765Val missense ANKRD30B 2 80048 2.4985E-5 40024 0 1.29257E-4
18-14808560-T-A p.Asp765Glu missense ANKRD30B 49 80056 6.12072E-4 40028 3 0.00109784
18-14808567-G-T p.Gly768Cys missense ANKRD30B 1 80106 1.24835E-5 40053 0 NA
18-14808570-C-T p.Leu769Phe missense ANKRD30B 1 80182 1.24716E-5 40091 0 NA
18-14808572-T-G p.Leu769Leu synonymous ANKRD30B 9 80206 1.12211E-4 40103 0 5.48812E-4
18-14808579-G-A c.2313+1G>A splice_donor ANKRD30B 3 80300 3.73599E-5 40150 0 3.72787E-5
18-14808583-T-C c.2313+5T>C splice_region ANKRD30B 3 80352 3.73357E-5 40176 0 3.23018E-5
18-14808584-T-C c.2313+6T>C splice_region ANKRD30B 7 80358 8.71102E-5 40179 0 2.8169E-5
18-14808666-T-A n.375-5T>A splice_region ANKRD30B 1 80096 1.2485E-5 40048 0 NA
18-14808670-G-A n.375-1G>A splice_acceptor ANKRD30B 1 80098 1.24847E-5 40049 0 NA
18-14808741-C-T c.*495C>T splice_region ANKRD30B 1 78830 1.26855E-5 39415 0 NA
18-14808747-A-C c.*497+4A>C splice_region ANKRD30B 490 78078 0.00627578 39039 28 0.0167021
18-14808750-T-A c.*497+7T>A splice_region ANKRD30B 1 78506 1.27379E-5 39253 0 NA
18-14809978-C-T c.*498-7C>T splice_region ANKRD30B 1 78786 1.26926E-5 39393 0 NA
18-14810016-A-T c.*526+3A>T splice_region ANKRD30B 2 78976 2.53241E-5 39488 1 1.73271E-5
18-14810099-C-A c.*527-8C>A splice_region ANKRD30B 1 78440 1.27486E-5 39220 0 1.25982E-4
18-14810106-G-C c.*527-1G>C splice_acceptor ANKRD30B 12 78328 1.53202E-4 39164 1 4.81116E-5
18-14810177-C-A c.*597C>A splice_region ANKRD30B 4 75670 5.28611E-5 37835 0 2.77444E-4
18-14810178-A-C c.*598A>C splice_region ANKRD30B 136 75492 0.00180152 37746 6 0.00131587
18-14810185-CTT-C c.*599+7_*599+8delTT splice_region ANKRD30B 4 74692 5.35533E-5 37346 1 1.28684E-4
18-14810185-C-T c.*599+6C>T splice_region ANKRD30B 8 74692 1.07107E-4 37346 0 3.04017E-4
18-14822596-C-A c.2314-8C>A splice_region ANKRD30B 1 71364 1.40127E-5 35682 0 NA
18-14822610-T-C p.Cys774Arg missense ANKRD30B 3 71800 4.17827E-5 35900 0 1.29828E-4
18-14822616-A-G p.Met776Val missense ANKRD30B 6 71486 8.39325E-5 35743 0 8.75316E-4
18-14828274-T-C c.2387-3T>C splice_region ANKRD30B 4 79690 5.01945E-5 39845 0 2.07749E-4
18-14828279-G-A p.Asp797Asn missense+splice_region ANKRD30B 17 79726 2.1323E-4 39863 0 2.86533E-4
18-14828284-G-C p.Val798Val synonymous ANKRD30B 1 79772 1.25357E-5 39886 0 NA
18-14828289-C-T p.Ser800Phe missense ANKRD30B 1 79782 1.25342E-5 39891 0 0.00131062
18-14828291-G-A p.Val801Ile missense ANKRD30B 12 79800 1.50376E-4 39900 0 3.50229E-4
18-14828291-G-T p.Val801Leu missense ANKRD30B 1 79800 1.25313E-5 39900 0 7.1622E-6
18-14828314-CTT-C c.2417+8_2417+9delTT splice_region ANKRD30B 2 79650 2.51099E-5 39825 0 1.2738E-4
18-14831395-C-T p.Pro811Ser missense ANKRD30B 1 80428 1.24335E-5 40214 0 NA
18-14831396-C-T p.Pro811Leu missense ANKRD30B 5 80446 6.21535E-5 40223 0 4.90725E-5
18-14831398-A-C p.Thr812Pro missense ANKRD30B 1 80550 1.24146E-5 40275 0 NA
18-14831420-C-T p.Thr819Ile missense ANKRD30B 1 80902 1.23606E-5 40451 0 NA
18-14831422-A-G p.Lys820Glu missense ANKRD30B 56 80898 6.9223E-4 40449 0 0.00134091
18-14831448-T-C p.Thr828Thr synonymous ANKRD30B 663 80642 0.00822152 40321 11 0.0197889
18-14831449-A-G p.Thr829Ala missense ANKRD30B 3 80736 3.71581E-5 40368 0 NA
18-14831450-C-T p.Thr829Ile missense ANKRD30B 1 80686 1.23937E-5 40343 0 NA
18-14831451-C-T p.Thr829Thr synonymous ANKRD30B 259 80700 0.00320942 40350 5 0.0078524
18-14831452-A-G p.Lys830Glu missense+splice_region ANKRD30B 1 80690 1.23931E-5 40345 0 7.02583E-6
18-14831461-T-C c.2490+7T>C splice_region ANKRD30B 1 80460 1.24285E-5 40230 0 3.1904E-5
18-14837192-GTGTTT-G c.2491-12_2491-8delTGTTT splice_region ANKRD30B 1 79956 1.25069E-5 39978 0 NA
18-14837210-G-T p.Glu831* stop_gained ANKRD30B 4 80582 4.96389E-5 40291 0 6.38121E-5
18-14837224-G-GACAGGA p.Thr836_Val837insGlyThr disruptive_inframe_insertion ANKRD30B 28 80860 3.46278E-4 40430 0 3.54036E-4
18-14837229-T-C p.Val837Ala missense ANKRD30B 25 80894 3.09046E-4 40447 0 3.54072E-4
18-14837230-A-G p.Val837Val synonymous ANKRD30B 5 80918 6.17909E-5 40459 0 4.04654E-4
18-14837241-A-G p.Gln841Arg missense ANKRD30B 1 80994 1.23466E-5 40497 0 6.51483E-6
18-14837244-A-C p.Glu842Ala missense ANKRD30B 1 81004 1.23451E-5 40502 0 3.18735E-5
18-14837246-C-T p.Arg843Cys missense ANKRD30B 612 80928 0.00756228 40464 14 0.0185055
18-14837247-G-A p.Arg843His missense ANKRD30B 4 80982 4.93937E-5 40491 0 2.60726E-5
18-14837261-A-G p.Ile848Val missense ANKRD30B 1 80996 1.23463E-5 40498 0 1.30359E-5
18-14837263-T-C p.Ile848Ile synonymous ANKRD30B 1 80978 1.2349E-5 40489 0 NA
18-14837264-G-C p.Glu849Gln missense ANKRD30B 1 80968 1.23506E-5 40484 0 NA
18-14837267-C-T p.Arg850* stop_gained ANKRD30B 3 80906 3.70801E-5 40453 0 9.57793E-5
18-14837273-C-T p.Pro852Ser missense ANKRD30B 2 80902 2.47213E-5 40451 0 NA
18-14837274-C-T p.Pro852Leu missense ANKRD30B 1 80906 1.236E-5 40453 0 3.1902E-5
18-14837277-A-G p.Gln853Arg missense ANKRD30B 45 80916 5.56132E-4 40458 0 0.00311526
18-14837286-C-T p.Thr856Ile missense+splice_region ANKRD30B 2 80766 2.47629E-5 40383 0 5.10048E-5
18-14837294-G-A n.141+6G>A splice_region ANKRD30B 9 80510 1.11787E-4 40255 0 1.02145E-4
18-14837613-G-C n.142-1G>C splice_acceptor ANKRD30B 1 77498 1.29036E-5 38749 0 NA
18-14837636-A-G p.Leu864Leu synonymous ANKRD30B 1 78402 1.27548E-5 39201 0 5.72148E-5
18-14837678-A-G n.203+3A>G splice_region ANKRD30B 3 78318 3.83054E-5 39159 0 1.05285E-4
18-14840586-G-A n.204-1G>A splice_acceptor ANKRD30B 1 74790 1.33708E-5 37395 0 NA
18-14840594-C-A p.Ser880Tyr missense ANKRD30B 9 76584 1.17518E-4 38292 0 6.37674E-5
18-14840602-G-C p.Asp883His missense ANKRD30B 2 77636 2.57612E-5 38818 0 1.42245E-5
18-14840603-A-G p.Asp883Gly missense ANKRD30B 1 77724 1.2866E-5 38862 0 3.27033E-5
18-14840604-T-C p.Asp883Asp synonymous ANKRD30B 2 77766 2.57182E-5 38883 0 3.18593E-5
18-14840616-T-G p.Tyr887* stop_gained ANKRD30B 5 78486 6.37056E-5 39243 0 4.68685E-5
18-14840617-G-A p.Glu888Lys missense ANKRD30B 2 78484 2.54829E-5 39242 0 NA
18-14840621-G-A p.Cys889Tyr missense ANKRD30B 4 78590 5.08971E-5 39295 0 3.18715E-5
18-14840637-A-G p.Thr894Thr synonymous ANKRD30B 2 78610 2.54421E-5 39305 0 NA
18-14840651-TAA-T p.Lys900fs frameshift ANKRD30B 4 78486 5.09645E-5 39243 0 6.73328E-6
18-14840659-A-G p.Thr902Ala missense ANKRD30B 1 78424 1.27512E-5 39212 0 NA
18-14840662-A-T p.Asn903Tyr missense ANKRD30B 2 78374 2.55187E-5 39187 0 NA
18-14840674-G-A p.Glu907Lys missense ANKRD30B 8 77798 1.0283E-4 38899 0 2.54777E-4
18-14842910-C-G p.Pro913Ala missense ANKRD30B 1 79424 1.25907E-5 39712 0 NA
18-14842910-C-T p.Pro913Ser missense ANKRD30B 1 79424 1.25907E-5 39712 0 NA
18-14843023-C-G p.Pro918Ala missense+splice_region ANKRD30B 380 77070 0.00493058 38535 1 0.00884612
18-14843025-T-G p.Pro918Pro splice_region+synonymous ANKRD30B 1 78136 1.27982E-5 39068 0 NA
18-14843028-C-T p.Ala919Ala synonymous ANKRD30B 1 78440 1.27486E-5 39220 0 NA
18-14843080-C-A p.Gln937Lys missense ANKRD30B 2 79910 2.50282E-5 39955 0 NA
18-14848709-A-G n.397-6A>G splice_region ANKRD30B 1 77744 1.28627E-5 38872 0 NA
18-14848726-C-T p.Leu946Leu synonymous ANKRD30B 1 79608 1.25616E-5 39804 0 NA
18-14848728-A-G p.Leu946Leu synonymous ANKRD30B 1 79686 1.25493E-5 39843 0 NA
18-14848729-T-C p.Ser947Pro missense ANKRD30B 1 79758 1.25379E-5 39879 0 1.51012E-4
18-14848737-C-G p.Ile949Met missense ANKRD30B 1 80234 1.24635E-5 40117 0 NA
18-14848738-T-C p.Leu950Leu synonymous ANKRD30B 1 80298 1.24536E-5 40149 0 4.31667E-5
18-14848738-T-A p.Leu950Met missense ANKRD30B 1 80298 1.24536E-5 40149 0 1.295E-4
18-14848741-G-A p.Asp951Asn missense ANKRD30B 2 80466 2.48552E-5 40233 0 5.67299E-6
18-14848748-T-C p.Leu953Pro missense ANKRD30B 911 80486 0.0113187 40243 35 0.0263057
18-14848762-A-G p.Arg958Gly missense ANKRD30B 1 80822 1.23729E-5 40411 0 NA
18-14848770-G-T p.Arg960Ser missense ANKRD30B 1 80904 1.23603E-5 40452 0 NA
18-14848774-C-T p.Leu962Phe missense ANKRD30B 9 80984 1.11133E-4 40492 0 3.19407E-4
18-14848820-C-T p.Thr977Met missense ANKRD30B 30901 72272 0.427565 36136 8164 0.631846
18-14848821-G-A p.Thr977Thr synonymous ANKRD30B 21296 53714 0.39647 26857 4207 0.528739
18-14848833-T-TTG p.Leu984fs frameshift ANKRD30B 3 80498 3.7268E-5 40249 0 3.18837E-5
18-14848843-C-T p.Gln985* stop_gained ANKRD30B 1 80242 1.24623E-5 40121 0 NA
18-14848843-CAAA-C p.Lys986del disruptive_inframe_deletion ANKRD30B 2 80242 2.49246E-5 40121 0 6.11247E-4
18-14848849-G-A p.Glu987Lys missense ANKRD30B 5 80120 6.24064E-5 40060 0 9.56694E-5
18-14848852-C-A p.Leu988Met missense ANKRD30B 3 80114 3.74466E-5 40057 0 6.26566E-4
18-14848853-T-G p.Leu988Arg missense ANKRD30B 1 80126 1.24803E-5 40063 0 NA
18-14848862-C-T p.Ala991Val missense ANKRD30B 3 79808 3.75902E-5 39904 0 0.00125471
18-14848883-T-C p.Leu998Ser missense ANKRD30B 1 78906 1.26733E-5 39453 0 NA
18-14848887-G-A p.Glu999Glu synonymous ANKRD30B 1 78744 1.26994E-5 39372 0 NA
18-14848892-A-G p.Gln1001Arg missense ANKRD30B 1 78582 1.27256E-5 39291 0 NA
18-14848898-C-G p.Ala1003Gly missense ANKRD30B 1 78392 1.27564E-5 39196 0 8.8164E-6
18-14848905-G-C p.Trp1005Cys missense ANKRD30B 1 78430 1.27502E-5 39215 0 3.14367E-5
18-14848918-T-C p.Cys1010Arg missense ANKRD30B 1 77978 1.28241E-5 38989 0 NA
18-14848919-G-T p.Cys1010Phe missense ANKRD30B 1 77916 1.28343E-5 38958 0 NA
18-14848935-C-T n.610+7C>T splice_region ANKRD30B 30233 64174 0.47111 32087 7315 0.529212
18-14850207-T-C n.611-6T>C splice_region ANKRD30B 2 78422 2.5503E-5 39211 0 3.19754E-5
18-14850217-AC-A p.Thr1015fs frameshift ANKRD30B 3 78896 3.80247E-5 39448 0 8.38054E-5
18-14850218-C-T p.Thr1015Ile missense ANKRD30B 2 78892 2.53511E-5 39446 0 1.65349E-5
18-14850223-A-C p.Asn1017His missense ANKRD30B 49 79116 6.19344E-4 39558 0 0.00130378
18-14850226-CAAG-C p.Glu1021del disruptive_inframe_deletion ANKRD30B 2 79222 2.52455E-5 39611 0 3.20349E-5
18-14850227-A-G p.Gln1018Arg missense ANKRD30B 1 79294 1.26113E-5 39647 0 2.99231E-5
18-14850230-AAGAAG-A p.Arg1023fs frameshift ANKRD30B 1 79326 1.26062E-5 39663 0 3.19693E-5
18-14850234-AGAG-A p.Glu1021del conservative_inframe_deletion ANKRD30B 2 79684 2.50991E-5 39842 0 NA
18-14850237-G-A p.Glu1021Glu synonymous ANKRD30B 593 79788 0.0074322 39894 14 0.0183598
18-14850242-GAAGAA-G p.Arg1024fs frameshift ANKRD30B 3 80178 3.74167E-5 40089 0 6.39591E-5
18-14850245-G-T p.Arg1024Ile missense ANKRD30B 6 80320 7.47012E-5 40160 0 1.91877E-4
18-14850252-C-T p.Val1026Val synonymous ANKRD30B 442 80424 0.00549587 40212 8 0.0117575
18-14850252-C-A p.Val1026Val synonymous ANKRD30B 2 80452 2.48595E-5 40226 0 9.38514E-5
18-14850253-G-A p.Asp1027Asn missense ANKRD30B 5 80484 6.21241E-5 40242 0 1.47323E-4
18-14850254-A-C p.Asp1027Ala missense ANKRD30B 1 80580 1.241E-5 40290 0 2.67237E-5
18-14850255-T-C p.Asp1027Asp synonymous ANKRD30B 1 80616 1.24045E-5 40308 0 1.33298E-5
18-14850255-T-A p.Asp1027Glu missense ANKRD30B 1 80616 1.24045E-5 40308 0 NA
18-14850256-A-G p.Ile1028Val missense ANKRD30B 12 80646 1.48798E-4 40323 0 0.00251889
18-14850257-T-C p.Ile1028Thr missense ANKRD30B 1 80674 1.23956E-5 40337 0 NA
18-14850265-G-T p.Glu1031* stop_gained ANKRD30B 3 80864 3.70993E-5 40432 0 1.28008E-4
18-14850273-TAGACCCGA-T p.Pro1035fs frameshift ANKRD30B 1 80984 1.23481E-5 40492 0 1.32273E-5
18-14850279-C-A p.Pro1035Pro synonymous ANKRD30B 1 81042 1.23393E-5 40521 0 NA
18-14850279-C-T p.Pro1035Pro synonymous ANKRD30B 2 81042 2.46786E-5 40521 0 3.92979E-5
18-14850280-G-A p.Glu1036Lys missense ANKRD30B 11 81058 1.35705E-4 40529 0 3.90849E-5
18-14850285-G-C p.Glu1037Asp missense ANKRD30B 1 81080 1.23335E-5 40540 0 NA
18-14850300-G-A p.Lys1042Lys synonymous ANKRD30B 2 81030 2.46822E-5 40515 0 NA
18-14850304-G-T p.Glu1044* stop_gained ANKRD30B 1 81062 1.23362E-5 40531 0 NA
18-14850311-A-G p.Lys1046Arg missense ANKRD30B 1 81060 1.23365E-5 40530 0 NA
18-14850329-C-T p.Thr1052Ile missense ANKRD30B 1 81212 1.23135E-5 40606 0 NA
18-14850329-C-G p.Thr1052Ser missense ANKRD30B 2 81212 2.46269E-5 40606 0 1.79446E-5
18-14850339-A-G p.Ile1055Met missense ANKRD30B 3 81160 3.6964E-5 40580 0 6.391E-5
18-14850345-T-G p.Asp1057Glu missense ANKRD30B 6 81030 7.40466E-5 40515 0 8.06127E-5
18-14850357-A-AAAT p.Lys1061_Ser1062insAsn disruptive_inframe_insertion ANKRD30B 1 80678 1.2395E-5 40339 0 NA
18-14850364-A-G p.Thr1064Ala missense ANKRD30B 1 80440 1.24316E-5 40220 0 5.76223E-6
18-14850375-G-A p.Leu1067Leu synonymous ANKRD30B 37873 75174 0.503805 37587 9721 0.531802
18-14851514-C-G p.His1072Asp missense ANKRD30B 2 80394 2.48775E-5 40197 0 NA
18-14851552-T-C p.Asn1084Asn synonymous ANKRD30B 1 81032 1.23408E-5 40516 0 1.00823E-5
18-14851554-G-A p.Cys1085Tyr missense ANKRD30B 1 81018 1.23429E-5 40509 0 6.38174E-4
18-14851570-A-G p.Glu1090Glu synonymous ANKRD30B 1 81168 1.23201E-5 40584 0 NA
18-14851579-GC-G p.Leu1094fs frameshift ANKRD30B 2 81264 2.46111E-5 40632 0 9.57365E-5
18-14851581-T-C p.Leu1094Pro missense ANKRD30B 2 81274 2.46081E-5 40637 0 4.72402E-5
18-14851582-A-T p.Leu1094Leu synonymous ANKRD30B 1 81298 1.23004E-5 40649 0 9.56694E-5
18-14851612-A-C p.Gln1104His missense ANKRD30B 1 81574 1.22588E-5 40787 0 1.70419E-5
18-14851623-A-G p.Lys1108Arg missense ANKRD30B 1 81614 1.22528E-5 40807 0 8.50398E-6
18-14851625-G-A p.Glu1109Lys missense ANKRD30B 2 81610 2.45068E-5 40805 0 4.05154E-6
18-14851635-A-T p.Tyr1112Phe missense ANKRD30B 22 81594 2.69628E-4 40797 0 0.00217628
18-14851652-A-T p.Ile1118Phe missense ANKRD30B 1 81690 1.22414E-5 40845 0 3.18918E-5
18-14851674-A-T p.Glu1125Val missense ANKRD30B 3 81780 3.66838E-5 40890 0 2.60516E-4
18-14851694-C-T p.Leu1132Leu synonymous ANKRD30B 3 81642 3.67458E-5 40821 0 3.65967E-5
18-14851707-C-T p.Thr1136Ile missense ANKRD30B 1 81466 1.22751E-5 40733 0 1.68268E-5
18-14851713-C-CA p.Arg1140fs frameshift ANKRD30B 1 81202 1.2315E-5 40601 0 8.43896E-6
18-14851719-G-C p.Arg1140Thr missense ANKRD30B 1 80876 1.23646E-5 40438 0 NA
18-14851753-G-A p.Leu1151Leu synonymous ANKRD30B 34 74486 4.56462E-4 37243 10 7.3955E-4
18-14851756-G-A p.Thr1152Thr synonymous ANKRD30B 292 37048 0.00788167 18524 59 0.574871
18-14852114-C-G p.Gln1272Glu missense ANKRD30B 8 81122 9.86169E-5 40561 0 0.00501178
18-14852229-A-G p.Asn1310Ser missense ANKRD30B 1 82598 1.21068E-5 41299 0 NA
18-14852241-G-A p.Arg1314Gln missense ANKRD30B 2 82334 2.42913E-5 41167 0 6.55652E-5
18-14852247-A-G p.Gln1316Arg missense ANKRD30B 1 82230 1.2161E-5 41115 0 NA
18-14852271-T-C p.Val1324Ala missense ANKRD30B 1 81270 1.23047E-5 40635 0 6.91506E-6
18-14852275-C-A p.Asn1325Lys missense ANKRD30B 23 80920 2.84231E-4 40460 0 5.74529E-4
18-14852283-A-T p.Lys1328Met missense ANKRD30B 1 80216 1.24663E-5 40108 0 NA
18-14852284-G-T p.Lys1328Asn missense ANKRD30B 2 80104 2.49675E-5 40052 0 NA
18-14852300-C-T p.Gln1334* stop_gained ANKRD30B 1 79542 1.2572E-5 39771 0 6.38244E-5
18-14852325-G-A p.Arg1342His missense ANKRD30B 18 78524 2.29229E-4 39262 0 2.69978E-4
18-14852332-A-G p.Leu1344Leu synonymous ANKRD30B 3 78000 3.84615E-5 39000 0 NA
18-14852335-C-A p.Asn1345Lys missense ANKRD30B 65378 66222 0.987255 33111 32298 0.999374
18-14852337-A-G p.Glu1346Gly missense ANKRD30B 6 77880 7.70416E-5 38940 0 1.12486E-4
18-14852338-G-T p.Glu1346Asp missense ANKRD30B 1 77940 1.28304E-5 38970 0 1.51916E-5
18-14852343-AT-A p.Asn1348fs frameshift ANKRD30B 1 78142 1.27972E-5 39071 0 NA
18-14852345-G-T p.Glu1349* stop_gained ANKRD30B 1 78268 1.27766E-5 39134 0 NA
18-14852348-G-A p.Glu1350Lys missense ANKRD30B 3 78420 3.82555E-5 39210 0 7.84929E-4
18-14852361-A-G p.Tyr1354Cys missense ANKRD30B 3 78976 3.79862E-5 39488 0 NA
18-14852381-C-A p.Arg1361Ser missense ANKRD30B 2 79738 2.50821E-5 39869 0 0.004436
18-14852391-A-G p.Gln1364Arg missense ANKRD30B 1 79702 1.25467E-5 39851 0 NA
18-14852397-A-G p.Glu1366Gly missense ANKRD30B 32 79784 4.01083E-4 39892 0 0.00108467
18-14852401-A-G p.Lys1367Lys synonymous ANKRD30B 40 79818 5.0114E-4 39909 0 0.00149892
18-14852425-T-C p.Ser1375Ser synonymous ANKRD30B 96 79828 0.00120259 39914 0 0.00166945
18-14852428-C-CA p.Tyr1379fs frameshift ANKRD30B 1 79930 1.25109E-5 39965 0 NA
18-14852441-T-C p.Tyr1381His missense ANKRD30B 1 79906 1.25147E-5 39953 0 NA
18-14852449-A-G p.Ser1383Ser synonymous ANKRD30B 1 79618 1.256E-5 39809 0 9.02723E-6
18-14852455-C-T p.Phe1385Phe synonymous ANKRD30B 1 79404 1.25938E-5 39702 0 NA



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