Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-113825611-G-C c.-39G>C splice_region ANK2 177 79424 0.00222855 39712 1 0.00346943
4-113970824-A-T c.-61A>T 5_prime_UTR_premature_start_codon_gain ANK2 6 80566 7.44731E-5 40283 0 NA
4-113970844-C-T c.-41C>T 5_prime_UTR_premature_start_codon_gain ANK2 2 81526 2.45321E-5 40763 0 1.27413E-4
4-113970867-C-G c.-18C>G 5_prime_UTR_premature_start_codon_gain ANK2 7 82362 8.49907E-5 41181 0 9.55718E-5
4-113970914-C-T p.Ser10Ser synonymous ANK2 1 83030 1.20438E-5 41515 0 NA
4-113970919-G-T p.Ser12Ile missense ANK2 1 83066 1.20386E-5 41533 0 NA
4-113970926-G-T p.Glu14Asp missense ANK2 2 83106 2.40657E-5 41553 0 3.98181E-6
4-113970933-A-G p.Asn17Asp missense ANK2 1 83136 1.20285E-5 41568 0 3.18512E-5
4-113970940-G-A p.Ser19Asn missense ANK2 5 83152 6.01308E-5 41576 0 1.65254E-5
4-113970943-G-A p.Ser20Asn missense ANK2 1 83158 1.20253E-5 41579 0 NA
4-113970947-G-A p.Gln21Gln synonymous ANK2 1 83178 1.20224E-5 41589 0 NA
4-113970949-G-A p.Arg22Lys missense ANK2 1 83178 1.20224E-5 41589 0 NA
4-113970960-C-T p.Pro26Ser missense ANK2 1 83140 1.20279E-5 41570 0 NA
4-113970964-A-C p.Lys27Thr missense ANK2 5 83126 6.01497E-5 41563 0 3.18552E-5
4-114038253-G-A c.-193G>A 5_prime_UTR_premature_start_codon_gain ANK2 1 8488 1.17813E-4 4244 0 NA
4-114038480-G-A p.Arg12Gln missense ANK2 1 10518 9.50751E-5 5259 0 NA
4-114038559-G-A p.Met38Ile missense ANK2 1 10520 9.5057E-5 5260 0 6.37674E-5
4-114066827-C-T c.-198C>T 5_prime_UTR_premature_start_codon_gain ANK2 23 45704 5.03238E-4 22852 0 1.59226E-4
4-114066846-C-T c.-179C>T 5_prime_UTR_premature_start_codon_gain ANK2 1 51954 1.92478E-5 25977 0 6.37024E-5
4-114066893-G-C c.-132G>C 5_prime_UTR_premature_start_codon_gain ANK2 3 65348 4.59081E-5 32674 0 NA
4-114066893-G-T c.-132G>T 5_prime_UTR_premature_start_codon_gain ANK2 2 65348 3.06054E-5 32674 0 NA
4-114066937-T-C c.-88T>C 5_prime_UTR_premature_start_codon_gain ANK2 2 72988 2.74018E-5 36494 0 NA
4-114067023-AGAT-A p.Met1del start_lost ANK2 1 75964 1.31641E-5 37982 0 3.1841E-5
4-114067029-G-A p.Gly2Glu missense ANK2 1 76028 1.3153E-5 38014 0 NA
4-114067048-T-C p.Ser8Ser synonymous ANK2 1 76224 1.31192E-5 38112 0 NA
4-114067055-C-T p.His11Tyr missense ANK2 1 76278 1.31099E-5 38139 0 7.45057E-6
4-114067056-A-T p.His11Leu missense ANK2 1 76292 1.31075E-5 38146 0 NA
4-114067059-C-T p.Ala12Val missense ANK2 93 76294 0.00121897 38147 0 0.00222873
4-114067060-G-A p.Ala12Ala synonymous ANK2 1 76316 1.31034E-5 38158 0 3.72484E-5
4-114067061-G-T p.Asp13Tyr missense ANK2 415 76318 0.00543777 38159 4 0.00447518
4-114067062-A-T p.Asp13Val missense ANK2 1 76336 1.31E-5 38168 0 NA
4-114067068-G-T p.Ser15Ile missense ANK2 1 76390 1.30907E-5 38195 0 NA
4-114067074-G-A p.Arg17Lys missense ANK2 1 76446 1.30811E-5 38223 0 NA
4-114067075-A-G p.Arg17Arg synonymous ANK2 23 76446 3.00866E-4 38223 0 5.73212E-4
4-114067075-A-C p.Arg17Ser missense ANK2 1 76446 1.30811E-5 38223 0 NA
4-114067083-G-A p.Gly20Glu missense ANK2 1 76476 1.3076E-5 38238 0 NA
4-114067089-T-A p.Met22Lys missense ANK2 73 76480 9.54498E-4 38240 0 0.00178333
4-114067107-C-G p.Thr28Ser missense ANK2 2 76506 2.61417E-5 38253 0 NA
4-114067107-C-T p.Thr28Ile missense ANK2 26 76506 3.39843E-4 38253 0 0.001875
4-114067108-C-T p.Thr28Thr synonymous ANK2 1 76506 1.30709E-5 38253 0 7.43517E-6
4-114067119-A-G p.Tyr32Cys missense ANK2 1 76524 1.30678E-5 38262 0 NA
4-114067138-C-T p.Asp38Asp synonymous ANK2 24 76524 3.13627E-4 38262 0 1.62602E-4
4-114067139-G-A p.Val39Ile missense ANK2 8957 76402 0.117235 38201 593 0.160656
4-114067144-A-C p.Lys40Asn missense ANK2 1 76528 1.30671E-5 38264 0 NA
4-114067145-G-A p.Glu41Lys missense ANK2 13042 76384 0.170743 38192 1207 0.215379
4-114067152-G-T p.Gly43Val missense ANK2 8 76520 1.04548E-4 38260 0 8.15262E-5
4-114067155-T-C p.Val44Ala missense ANK2 1 76512 1.30698E-5 38256 0 NA
4-114067158-G-A p.Trp45* stop_gained ANK2 3 76510 3.92106E-5 38255 0 NA
4-114072229-A-G c.85-7A>G splice_region ANK2 1 34768 2.87621E-5 17384 0 7.93235E-6
4-114072232-A-G c.85-4A>G splice_region ANK2 2 34774 5.75142E-5 17387 0 NA
4-114072244-C-G p.Cys31Trp missense ANK2 7 34772 2.01311E-4 17386 0 7.81372E-5
4-114072246-C-T p.Pro32Leu missense ANK2 3 34770 8.62813E-5 17385 0 7.80482E-6
4-114072265-C-T p.Ala38Ala synonymous ANK2 1 34772 2.87588E-5 17386 0 3.90076E-5
4-114072266-G-A p.Ala39Thr missense ANK2 1 34770 2.87604E-5 17385 0 9.56084E-5
4-114095567-C-T c.85-5C>T splice_region ANK2 1 83094 1.20346E-5 41547 0 3.18878E-5
4-114095568-G-A c.85-4G>A splice_region ANK2 1 83052 1.20406E-5 41526 0 6.37999E-5
4-114095597-G-T p.Arg37Leu missense ANK2 1 83210 1.20178E-5 41605 0 NA
4-114095597-G-A p.Arg37His missense ANK2 1 83210 1.20178E-5 41605 0 NA
4-114095617-C-G p.Leu44Val missense ANK2 14 83240 1.68188E-4 41620 0 5.41401E-4
4-114095619-G-A p.Leu44Leu synonymous ANK2 2 83240 2.40269E-5 41620 0 1.19477E-5
4-114095626-G-T p.Val47Phe missense ANK2 1 83236 1.2014E-5 41618 0 2.38926E-5
4-114095645-G-C p.Gly53Ala missense ANK2 2 83224 2.40315E-5 41612 0 3.18451E-5
4-114095647-G-A p.Gly54Ser missense ANK2 1 83210 1.20178E-5 41605 0 NA
4-114095649-C-T p.Gly54Gly synonymous ANK2 2 83208 2.40361E-5 41604 0 3.59574E-5
4-114095667-C-A p.Cys60* stop_gained ANK2 1 83118 1.20311E-5 41559 0 NA
4-114095681-C-A c.186+8C>A splice_region ANK2 2 83006 2.40946E-5 41503 0 1.61896E-5
4-114117535-C-T c.-208C>T 5_prime_UTR_premature_start_codon_gain ANK2 17 82878 2.05121E-4 41439 0 0.00100705
4-114117565-C-T c.-178C>T 5_prime_UTR_premature_start_codon_gain ANK2 2 83046 2.4083E-5 41523 0 7.99546E-6
4-114117566-G-A p.Val77Met missense ANK2 7 83044 8.42927E-5 41522 0 3.99926E-5
4-114117568-G-A p.Val77Val synonymous ANK2 43 83060 5.17698E-4 41530 0 7.00548E-4
4-114117598-G-A p.Gly87Gly synonymous ANK2 22 83086 2.64786E-4 41543 0 6.25E-4
4-114117603-C-T p.Ser89Phe missense ANK2 1 83076 1.20372E-5 41538 0 1.77186E-5
4-114117607-G-T c.-136G>T 5_prime_UTR_premature_start_codon_gain ANK2 9 83082 1.08327E-4 41541 0 0.00100705
4-114117607-G-C p.Val90Val synonymous ANK2 1 83082 1.20363E-5 41541 0 4.02029E-6
4-114120160-A-G c.286-7A>G splice_region ANK2 9 82690 1.0884E-4 41345 0 1.91083E-4
4-114120175-T-C p.Asn98Asn synonymous ANK2 1 82746 1.20852E-5 41373 0 NA
4-114120178-C-T c.-109C>T 5_prime_UTR_premature_start_codon_gain ANK2 1 82746 1.20852E-5 41373 0 1.59369E-5
4-114120187-C-T p.His102His synonymous ANK2 1 82770 1.20817E-5 41385 0 NA
4-114120193-A-G p.Ala104Ala synonymous ANK2 1 82776 1.20808E-5 41388 0 5.03525E-4
4-114120221-A-G p.Lys114Glu missense ANK2 4 82728 4.83512E-5 41364 0 NA
4-114120246-A-G p.Asn122Ser missense ANK2 1 82674 1.20957E-5 41337 0 1.65033E-5
4-114120271-C-T c.384+6C>T splice_region ANK2 1 82442 1.21297E-5 41221 0 NA
4-114153311-C-T c.385-6C>T splice_region ANK2 11 82714 1.32988E-4 41357 0 1.91266E-4
4-114153331-T-A p.Pro133Pro synonymous ANK2 1 82934 1.20578E-5 41467 0 NA
4-114153349-A-G p.Gln139Gln synonymous ANK2 1 82988 1.20499E-5 41494 0 3.18451E-5
4-114153367-T-C p.Val145Val synonymous ANK2 1 83010 1.20467E-5 41505 0 3.18471E-5
4-114153370-A-G p.Val146Val synonymous ANK2 1 83024 1.20447E-5 41512 0 2.78458E-5
4-114153376-T-C p.Tyr148Tyr synonymous ANK2 1 83022 1.2045E-5 41511 0 NA
4-114153379-G-T p.Leu149Phe missense ANK2 1 83012 1.20465E-5 41506 0 NA
4-114153390-G-C p.Gly153Ala missense ANK2 1 82934 1.20578E-5 41467 0 NA
4-114153400-G-A p.Gln156Gln synonymous ANK2 3 82888 3.61934E-5 41444 0 7.95957E-6
4-114153412-A-G p.Thr160Thr synonymous ANK2 1 82738 1.20863E-5 41369 0 NA
4-114153423-T-C c.483+8T>C splice_region ANK2 3 82622 3.63099E-5 41311 0 3.1841E-5
4-114158172-C-T p.Leu171Leu synonymous ANK2 1 83188 1.2021E-5 41594 0 NA
4-114158178-A-G p.Gln173Gln synonymous ANK2 1 83226 1.20155E-5 41613 0 NA
4-114158191-G-T p.Ala178Ser missense ANK2 2 83238 2.40275E-5 41619 0 3.18451E-5
4-114158192-C-T p.Ala178Val missense ANK2 4 83230 4.80596E-5 41615 0 3.1841E-5
4-114158229-A-G p.Lys190Lys synonymous ANK2 1 83298 1.20051E-5 41649 0 NA
4-114158238-G-A p.Leu193Leu synonymous ANK2 1 83294 1.20057E-5 41647 0 3.18451E-5
4-114158244-T-C p.Ala195Ala synonymous ANK2 2 83294 2.40113E-5 41647 0 NA
4-114158245-C-T p.Leu196Leu synonymous ANK2 1 83294 1.20057E-5 41647 0 3.97687E-6
4-114158256-C-T p.Ala199Ala synonymous ANK2 1 83298 1.20051E-5 41649 0 2.54826E-4
4-114158268-C-T p.Asp203Asp synonymous ANK2 4 83308 4.80146E-5 41654 0 3.57927E-5
4-114158283-C-T p.Ala208Ala synonymous ANK2 1 83288 1.20065E-5 41644 0 1.59226E-4
4-114158284-G-T p.Ala209Ser missense ANK2 1 83280 1.20077E-5 41640 0 3.97763E-6
4-114158289-T-C p.Leu210Leu synonymous ANK2 1 83290 1.20062E-5 41645 0 8.24525E-6
4-114158292-G-A p.Leu211Leu synonymous ANK2 1 83282 1.20074E-5 41641 0 NA
4-114158317-G-A p.Val220Ile missense ANK2 2 83194 2.40402E-5 41597 0 3.1841E-5
4-114158331-A-G c.669+3A>G splice_region ANK2 26 83052 3.13057E-4 41526 0 5.73029E-4
4-114158759-T-C p.Met225Thr missense ANK2 1 83098 1.2034E-5 41549 0 NA
4-114158769-G-A p.Arg228Arg synonymous ANK2 3 83094 3.61037E-5 41547 0 NA
4-114158772-A-G p.Thr229Thr synonymous ANK2 1 83080 1.20366E-5 41540 0 3.97735E-6
4-114158781-A-G c.693+3A>G splice_region ANK2 2 83050 2.40819E-5 41525 0 NA
4-114161644-G-A p.Gly233Ser missense ANK2 1 83268 1.20094E-5 41634 0 NA
4-114161663-T-A p.Ile239Lys missense ANK2 1 83298 1.20051E-5 41649 0 NA
4-114161670-A-G p.Ala241Ala synonymous ANK2 1 83292 1.2006E-5 41646 0 NA
4-114161676-C-T p.Tyr243Tyr synonymous ANK2 3 83292 3.60179E-5 41646 0 1.19316E-5
4-114161683-G-T p.Val246Phe missense ANK2 1 83308 1.20036E-5 41654 0 3.977E-6
4-114161688-C-T p.Asn247Asn synonymous ANK2 16 83292 1.92095E-4 41646 0 1.59256E-4
4-114161691-G-A p.Val248Val synonymous ANK2 17 83292 2.04101E-4 41646 0 3.18492E-5
4-114161720-C-T p.Ala258Val missense ANK2 2 83290 2.40125E-5 41645 0 NA
4-114161743-T-C c.792+4T>C splice_region ANK2 2 83236 2.40281E-5 41618 0 1.59174E-5
4-114161747-T-G c.792+8T>G splice_region ANK2 3 83210 3.60534E-5 41605 0 6.36902E-5
4-114163261-G-C c.793-6G>C splice_region ANK2 1 83232 1.20146E-5 41616 0 NA
4-114163282-C-G p.Leu270Val missense ANK2 2 83304 2.40085E-5 41652 0 NA
4-114163287-T-C p.His271His synonymous ANK2 8 83322 9.60131E-5 41661 0 1.27413E-4
4-114163305-A-G p.Gly277Gly synonymous ANK2 1 83344 1.19985E-5 41672 0 NA
4-114163308-T-C p.Asn278Asn synonymous ANK2 1 83354 1.1997E-5 41677 0 NA
4-114163311-A-G p.Thr279Thr synonymous ANK2 1 83354 1.1997E-5 41677 0 NA
4-114163336-C-A p.Arg288Arg synonymous ANK2 2 83362 2.39917E-5 41681 0 NA
4-114163341-C-T p.Gly289Gly synonymous ANK2 16 83358 1.91943E-4 41679 0 5.03525E-4
4-114163350-C-T p.Ile292Ile synonymous ANK2 1 83342 1.19988E-5 41671 0 8.26023E-6
4-114163351-G-A p.Asp293Asn missense ANK2 15 83342 1.79981E-4 41671 0 1.48692E-4
4-114163356-C-G p.Ala294Ala synonymous ANK2 5 83350 5.9988E-5 41675 0 1.65352E-5
4-114163357-A-G p.Lys295Glu missense ANK2 1 83350 1.19976E-5 41675 0 NA
4-114170924-G-C p.Gly299Ala missense ANK2 1 83246 1.20126E-5 41623 0 NA
4-114170947-G-A p.Ala307Thr missense ANK2 1 83258 1.20109E-5 41629 0 8.37675E-6
4-114170960-A-G p.His311Arg missense ANK2 1 83264 1.201E-5 41632 0 NA
4-114170961-T-A p.His311Gln missense ANK2 1 83266 1.20097E-5 41633 0 NA
4-114170978-T-C p.Leu317Pro missense ANK2 1 83266 1.20097E-5 41633 0 NA
4-114170989-C-T p.Arg321Trp missense ANK2 8 83262 9.60822E-5 41631 0 9.55231E-5
4-114170990-G-A p.Arg321Gln missense ANK2 86 83258 0.00103293 41629 0 7.45454E-4
4-114170991-G-C p.Arg321Arg synonymous ANK2 2 83264 2.402E-5 41632 0 8.41652E-6
4-114170995-G-GC p.Leu326fs frameshift ANK2 1 83250 1.2012E-5 41625 0 NA
4-114170999-C-G p.Pro324Arg missense ANK2 1 83246 1.20126E-5 41623 0 3.98772E-6
4-114171009-A-G p.Ala327Ala synonymous ANK2 4 83236 4.80561E-5 41618 0 1.71069E-5
4-114171018-G-A p.Lys330Lys splice_region+synonymous ANK2 1 83202 1.20189E-5 41601 0 NA
4-114171020-TG-T c.990+3delG splice_region ANK2 2 83200 2.40385E-5 41600 0 NA
4-114176897-C-T p.Leu333Leu synonymous ANK2 24 82754 2.90016E-4 41377 0 1.91436E-4
4-114176903-C-T p.Pro335Ser missense ANK2 1 82846 1.20706E-5 41423 0 3.98333E-6
4-114176933-G-A p.Val345Met missense ANK2 1 83112 1.2032E-5 41556 0 NA
4-114176947-G-A p.Lys349Lys synonymous ANK2 1 83204 1.20187E-5 41602 0 3.18532E-5
4-114176956-A-G p.Leu352Leu synonymous ANK2 4 83258 4.80434E-5 41629 0 1.64742E-5
4-114176977-T-C p.Asp359Asp synonymous ANK2 4 83268 4.80377E-5 41634 0 9.55353E-5
4-114177006-T-A p.Leu369His missense ANK2 1 83246 1.20126E-5 41623 0 NA
4-114177010-C-T p.His370His synonymous ANK2 2 83248 2.40246E-5 41624 0 4.94275E-5
4-114177011-G-A p.Val371Ile missense ANK2 1 83240 1.20135E-5 41620 0 1.19353E-5
4-114177013-T-TCAGATCTTC p.Val371_Ala372insGlnIlePhe conservative_inframe_insertion ANK2 1 83240 1.20135E-5 41620 0 NA
4-114177018-C-T p.Ala373Val missense ANK2 3 83226 3.60464E-5 41613 0 5.96725E-5
4-114177019-G-A p.Ala373Ala synonymous ANK2 21 83226 2.52325E-4 41613 0 7.4151E-5
4-114177035-C-T p.Arg379Cys missense ANK2 8 83202 9.61515E-5 41601 0 0.00125
4-114177036-G-T p.Arg379Leu missense ANK2 12 83192 1.44245E-4 41596 0 1.03462E-4
4-114177036-G-A p.Arg379His missense ANK2 3 83192 3.60612E-5 41596 0 3.2962E-5
4-114177073-G-A p.Pro391Pro synonymous ANK2 1 82908 1.20616E-5 41454 0 3.18555E-5
4-114177076-C-T p.Asn392Asn synonymous ANK2 4 82888 4.82579E-5 41444 0 5.17644E-5
4-114177077-G-A p.Ala393Thr missense ANK2 3 82834 3.6217E-5 41417 0 1.57212E-4
4-114179201-C-T c.1189-5C>T splice_region ANK2 3 83178 3.60672E-5 41589 0 2.78545E-5
4-114179203-C-T c.1189-3C>T splice_region ANK2 2 83180 2.40442E-5 41590 0 NA
4-114179244-C-T p.Asn409Asn synonymous ANK2 2 83084 2.4072E-5 41542 1 NA
4-114179258-T-C p.Met414Thr missense ANK2 1 83000 1.20482E-5 41500 0 8.24185E-6
4-114179258-T-A p.Met414Lys missense ANK2 1 83000 1.20482E-5 41500 0 NA
4-114179262-A-G p.Glu415Glu synonymous ANK2 237 82966 0.00285659 41483 2 0.00560367
4-114179289-C-A p.Ile424Ile synonymous ANK2 1 82810 1.20758E-5 41405 0 NA
4-114179464-C-T c.1288-5C>T splice_region ANK2 2 83254 2.40229E-5 41627 0 4.12018E-5
4-114179465-G-A c.1288-4G>A splice_region ANK2 3 83250 3.6036E-5 41625 0 6.3678E-5
4-114179489-T-C p.His436His synonymous ANK2 1 83264 1.201E-5 41632 0 8.23778E-6
4-114179490-G-A p.Val437Met missense ANK2 1 83262 1.20103E-5 41631 0 1.64753E-5
4-114179492-G-C p.Val437Val synonymous ANK2 1 83244 1.20129E-5 41622 0 NA
4-114179494-C-T p.Ala438Val missense ANK2 2 83236 2.40281E-5 41618 0 NA
4-114179501-C-T p.Phe440Phe synonymous ANK2 6 83224 7.20946E-5 41612 0 3.1839E-5
4-114179519-T-C p.Ile446Ile synonymous ANK2 1 83174 1.2023E-5 41587 0 3.18451E-5
4-114179522-C-T p.Val447Val synonymous ANK2 2 83178 2.40448E-5 41589 0 NA
4-114179525-C-G p.Leu448Leu synonymous ANK2 1 83168 1.20239E-5 41584 0 NA
4-114179540-C-T p.Asn453Asn synonymous ANK2 3 83108 3.60976E-5 41554 0 1.27405E-4
4-114179541-G-A p.Gly454Arg missense ANK2 1 83084 1.2036E-5 41542 0 8.23764E-6
4-114179560-C-T p.Thr460Ile missense ANK2 1 82892 1.20639E-5 41446 0 8.2394E-6
4-114179561-T-A p.Thr460Thr synonymous ANK2 1 82886 1.20648E-5 41443 0 NA
4-114179575-T-C c.1386+8T>C splice_region ANK2 1 82680 1.20948E-5 41340 0 NA
4-114186056-G-T p.Gly464Cys missense ANK2 2 81572 2.45182E-5 40786 0 NA
4-114186063-C-T p.Thr466Met missense ANK2 1 81574 1.22588E-5 40787 0 5.16357E-5
4-114186067-A-G p.Ala467Ala synonymous ANK2 332 81580 0.00406962 40790 1 0.008647
4-114186077-G-T p.Ala471Ser missense ANK2 1 81588 1.22567E-5 40794 0 NA
4-114186078-C-T p.Ala471Val missense ANK2 1 81588 1.22567E-5 40794 0 2.24502E-5
4-114186089-G-A p.Gly475Arg missense ANK2 3 81592 3.67683E-5 40796 0 1.21212E-4
4-114186131-C-A p.Leu489Ile missense ANK2 1 81612 1.22531E-5 40806 0 NA
4-114186142-C-T p.Ala492Ala synonymous ANK2 1 81598 1.22552E-5 40799 0 NA
4-114195605-T-C c.1486-3T>C splice_region ANK2 5 82664 6.04858E-5 41332 0 NA
4-114195620-C-T p.Pro500Ser missense ANK2 1 82800 1.20773E-5 41400 0 NA
4-114195633-C-T p.Ala504Val missense ANK2 1 82894 1.20636E-5 41447 0 NA
4-114195657-T-C p.Ile512Thr missense ANK2 1 82988 1.20499E-5 41494 0 NA
4-114195661-C-T p.Val513Val synonymous ANK2 1 83000 1.20482E-5 41500 0 3.97994E-6
4-114195686-C-T p.His522Tyr missense ANK2 2 82998 2.4097E-5 41499 0 4.1197E-5
4-114195697-G-A p.Ala525Ala synonymous ANK2 1 82974 1.2052E-5 41487 0 5.5728E-5
4-114195700-C-G p.Ala526Ala synonymous ANK2 2 82966 2.41063E-5 41483 0 2.38817E-5
4-114195705-C-T p.Thr528Ile missense ANK2 1 82958 1.20543E-5 41479 0 NA
4-114195724-G-T p.Leu534Leu synonymous ANK2 1 82914 1.20607E-5 41457 0 8.24171E-6
4-114195748-G-C p.Gln542His missense ANK2 1 82796 1.20779E-5 41398 0 NA
4-114195749-G-A p.Val543Met missense ANK2 1 82784 1.20796E-5 41392 0 6.36943E-5
4-114195749-G-T p.Val543Leu missense ANK2 3 82784 3.62389E-5 41392 0 3.98283E-6
4-114195760-A-G p.Ala546Ala synonymous ANK2 14 82786 1.69111E-4 41393 0 9.55231E-5
4-114195763-A-G p.Ser547Ser synonymous ANK2 2 82768 2.41639E-5 41384 0 NA
4-114195767-C-T p.Leu549Leu synonymous ANK2 1 82742 1.20858E-5 41371 0 3.18471E-5
4-114195769-A-G p.Leu549Leu synonymous ANK2 4 82732 4.83489E-5 41366 0 3.18471E-5
4-114195780-G-A p.Gly553Glu missense ANK2 1 82648 1.20995E-5 41324 0 NA
4-114195789-A-G p.His556Arg missense ANK2 3 82560 3.63372E-5 41280 0 4.14195E-5
4-114195795-T-C p.Leu558Ser missense ANK2 4 82506 4.84813E-5 41253 0 9.55536E-5
4-114195802-C-T p.Thr560Thr synonymous ANK2 5 82382 6.06929E-5 41191 0 5.1849E-5
4-114195804-A-G p.Lys561Arg missense+splice_region ANK2 1 82360 1.21418E-5 41180 0 3.98848E-6
4-114199005-C-T p.Pro566Ser missense ANK2 1 82994 1.20491E-5 41497 0 NA
4-114199007-C-T p.Pro566Pro synonymous ANK2 2 82996 2.40975E-5 41498 0 2.7858E-5
4-114199010-G-A p.Leu567Leu synonymous ANK2 1 83010 1.20467E-5 41505 0 8.24661E-5
4-114199020-G-T p.Ala571Ser missense ANK2 1 83014 1.20462E-5 41507 0 NA
4-114199031-A-C p.Gly574Gly synonymous ANK2 1 83002 1.20479E-5 41501 0 3.18431E-5
4-114199033-G-T p.Ser575Ile missense ANK2 1 83000 1.20482E-5 41500 0 NA
4-114199035-C-G p.Leu576Val missense ANK2 1 82998 1.20485E-5 41499 0 NA
4-114199044-G-A p.Ala579Thr missense ANK2 2 82990 2.40993E-5 41495 0 8.24457E-6
4-114199046-A-C p.Ala579Ala synonymous ANK2 10 82990 1.20496E-4 41495 0 7.95969E-6
4-114199066-G-A p.Arg586His missense ANK2 1 82934 1.20578E-5 41467 0 7.96235E-6
4-114199078-A-G p.Asp590Gly missense ANK2 2 82914 2.41214E-5 41457 0 NA
4-114199079-T-C p.Asp590Asp synonymous ANK2 1 82916 1.20604E-5 41458 0 NA
4-114199082-T-C p.Ser591Ser synonymous ANK2 7 82892 8.44472E-5 41446 0 9.55292E-5
4-114199085-A-G p.Ala592Ala synonymous ANK2 1 82868 1.20674E-5 41434 0 8.38814E-6
4-114199097-G-T c.1782+6G>T splice_region ANK2 1 82726 1.20881E-5 41363 0 NA
4-114199612-A-G c.1783-4A>G splice_region ANK2 1 83306 1.20039E-5 41653 0 8.24974E-6
4-114199636-T-G p.His601Gln missense ANK2 2 83326 2.40021E-5 41663 0 NA
4-114199653-A-G p.Asp607Gly missense ANK2 2 83320 2.40038E-5 41660 0 NA
4-114199654-C-T p.Asp607Asp synonymous ANK2 1 83318 1.20022E-5 41659 0 NA
4-114199657-C-T p.Asn608Asn synonymous ANK2 1 83320 1.20019E-5 41660 0 6.37186E-5
4-114199688-G-C p.Gly619Arg missense ANK2 1 83296 1.20054E-5 41648 0 NA
4-114199696-C-G p.Ser621Ser synonymous ANK2 22 83288 2.64144E-4 41644 0 8.92402E-4
4-114199697-C-G p.Pro622Ala missense ANK2 1 83288 1.20065E-5 41644 0 NA
4-114199702-T-C p.His623His synonymous ANK2 2 83280 2.40154E-5 41640 0 1.98875E-5
4-114199707-C-A p.Thr625Asn missense ANK2 1 83266 1.20097E-5 41633 0 3.18573E-5
4-114199708-T-A p.Thr625Thr synonymous ANK2 1 83268 1.20094E-5 41634 0 NA
4-114199722-C-G c.1881+8C>G splice_region ANK2 219 83184 0.00263272 41592 2 0.00560938
4-114203845-G-A p.Pro632Pro synonymous ANK2 1 83202 1.20189E-5 41601 0 4.0808E-5
4-114203848-A-G p.Leu633Leu synonymous ANK2 10 83214 1.20172E-4 41607 0 9.55536E-5
4-114203854-T-C p.Ile635Ile synonymous ANK2 1 83238 1.20137E-5 41619 0 NA
4-114203859-C-T p.Ala637Val missense ANK2 19 83252 2.28223E-4 41626 0 2.23058E-4
4-114203904-G-A p.Gly652Glu missense ANK2 1 83280 1.20077E-5 41640 0 NA
4-114203935-A-G p.Gly662Gly synonymous ANK2 1 83274 1.20085E-5 41637 0 8.27965E-6
4-114203942-C-T p.Pro665Ser missense ANK2 1 83254 1.20114E-5 41627 0 9.55597E-5
4-114203944-A-G p.Pro665Pro synonymous ANK2 219 83248 0.00263069 41624 2 0.00567493
4-114203959-G-A p.Ser670Ser synonymous ANK2 10 83222 1.20161E-4 41611 0 1.07476E-4
4-114203960-C-A p.Gln671Lys missense ANK2 1 83218 1.20166E-5 41609 0 NA
4-114203967-G-T p.Gly673Val missense ANK2 2 83200 2.40385E-5 41600 0 NA
4-114203978-A-G p.Met677Val missense ANK2 1 83178 1.20224E-5 41589 0 7.96052E-6
4-114203998-T-C p.Asp683Asp synonymous ANK2 1 83032 1.20435E-5 41516 0 NA
4-114204009-A-G p.Asn687Ser missense ANK2 7 82908 8.44309E-5 41454 0 9.55353E-5
4-114204016-C-T p.His689His synonymous ANK2 1 82824 1.20738E-5 41412 0 3.18552E-5
4-114204017-A-G p.Met690Val missense ANK2 1 82810 1.20758E-5 41405 0 3.18471E-5
4-114204023-A-G p.Thr692Ala missense ANK2 2 82598 2.42137E-5 41299 0 6.25E-4
4-114204033-T-G c.2079+5T>G splice_region ANK2 1 82258 1.21569E-5 41129 0 3.98998E-6
4-114208791-C-G p.Gln704Glu missense ANK2 3 83112 3.60959E-5 41556 0 1.91083E-4
4-114208808-T-C p.Asn709Asn synonymous ANK2 1 83114 1.20317E-5 41557 0 5.04032E-4
4-114208809-G-A p.Val710Ile missense ANK2 3 83114 3.6095E-5 41557 0 2.48004E-5
4-114208825-C-T p.Thr715Ile missense ANK2 10 83114 1.20317E-4 41557 0 1.27405E-4
4-114208825-C-A p.Thr715Asn missense ANK2 2 83114 2.40633E-5 41557 0 3.97991E-5
4-114208831-A-C p.His717Pro missense ANK2 1 83100 1.20337E-5 41550 0 8.30041E-6
4-114208835-A-T p.Gly718Gly synonymous ANK2 2 83102 2.40668E-5 41551 0 NA
4-114208841-T-A p.Asp720Glu missense ANK2 2 83104 2.40662E-5 41552 0 0.00125
4-114208866-CA-C c.2178+8delA splice_region ANK2 3 83026 3.61333E-5 41513 0 3.99284E-6
4-114209543-G-A c.2179-1G>A splice_acceptor ANK2 1 83136 1.20285E-5 41568 0 NA
4-114209556-C-A p.Pro731Thr missense ANK2 1 83194 1.20201E-5 41597 0 NA
4-114209563-T-C p.Ile733Thr missense ANK2 1 83224 1.20158E-5 41612 0 NA
4-114209565-G-A p.Val734Met missense ANK2 1 83232 1.20146E-5 41616 0 NA
4-114209578-A-G p.Tyr738Cys missense ANK2 1 83246 1.20126E-5 41623 0 NA
4-114209581-G-C p.Gly739Ala missense ANK2 1 83254 1.20114E-5 41627 0 NA
4-114209612-G-A p.Lys749Lys synonymous ANK2 1 83264 1.201E-5 41632 0 NA
4-114209614-A-G p.Gln750Arg missense ANK2 13 83272 1.56115E-4 41636 0 2.86401E-4
4-114209624-T-C p.Asn753Asn synonymous ANK2 1 83276 1.20083E-5 41638 0 3.18593E-5
4-114209630-C-T p.Asn755Asn synonymous ANK2 6 83272 7.2053E-5 41636 0 3.58123E-5
4-114209631-G-A p.Ala756Thr missense ANK2 1 83268 1.20094E-5 41634 0 2.47938E-5
4-114213574-C-G p.Asn760Lys missense+splice_region ANK2 1 81682 1.22426E-5 40841 0 NA
4-114213582-C-T p.Thr763Met missense ANK2 1 81640 1.22489E-5 40820 0 NA
4-114213628-C-T p.Asn778Asn synonymous ANK2 4 81928 4.88234E-5 40964 0 2.03817E-5
4-114213631-C-T p.Val779Val synonymous ANK2 2514 81916 0.03069 40958 49 0.0401351
4-114213639-A-G p.Gln782Arg missense ANK2 4 81914 4.88317E-5 40957 0 1.22471E-5
4-114213643-T-TG p.Ala785fs frameshift ANK2 1 81902 1.22097E-5 40951 0 NA
4-114213663-C-T p.Thr790Ile missense ANK2 2 81792 2.44523E-5 40896 0 2.56944E-5
4-114213669-C-A p.Ala792Glu missense+splice_region ANK2 1 81750 1.22324E-5 40875 0 0.00151057
4-114214353-G-A c.-100G>A 5_prime_UTR_premature_start_codon_gain ANK2 1 29274 3.416E-5 14637 0 NA
4-114214588-C-T c.2377-8C>T splice_region ANK2 666 83184 0.00800635 41592 3 0.00624276
4-114214593-C-T c.2377-3C>T splice_region ANK2 1 83224 1.20158E-5 41612 0 NA
4-114214615-C-T p.Ala799Val missense ANK2 1 83280 1.20077E-5 41640 0 1.67808E-5
4-114214638-A-G p.Ile807Val missense ANK2 2 83302 2.4009E-5 41651 0 NA
4-114214643-C-T p.Ser808Ser synonymous ANK2 8 83310 9.60269E-5 41655 0 1.27437E-4
4-114214646-G-A p.Val809Val synonymous ANK2 1 83306 1.20039E-5 41653 0 6.36983E-5
4-114214646-G-C p.Val809Val synonymous ANK2 1 83306 1.20039E-5 41653 0 NA
4-114214649-C-T p.Val810Val synonymous ANK2 2 83298 2.40102E-5 41649 0 1.24636E-4
4-114214675-A-T p.Glu819Val missense ANK2 1 83282 1.20074E-5 41641 0 NA
4-114214678-TCAC-T p.Thr825del disruptive_inframe_deletion ANK2 28 83252 3.36328E-4 41626 0 0.0120846
4-114214678-T-TCAC p.Thr825dup disruptive_inframe_insertion ANK2 11 83274 1.32094E-4 41637 0 3.18918E-5
4-114214684-C-A p.Thr822Asn missense ANK2 3 83254 3.60343E-5 41627 0 3.18532E-5
4-114214685-C-G p.Thr822Thr synonymous ANK2 4 83256 4.80446E-5 41628 0 3.33723E-5
4-114214687-C-T p.Thr823Ile missense ANK2 6 83240 7.20807E-5 41620 0 1.67003E-5
4-114214692-A-G p.Thr825Ala missense+splice_region ANK2 1 83242 1.20132E-5 41621 0 NA
4-114214701-A-T c.2475+7A>T splice_region ANK2 1 83216 1.20169E-5 41608 0 NA
4-114214702-T-G c.2475+8T>G splice_region ANK2 1 83212 1.20175E-5 41606 0 8.42659E-6
4-114223926-A-G p.Ile827Val missense ANK2 2 83284 2.40142E-5 41642 0 3.29837E-5
4-114223960-C-T p.Thr838Met missense ANK2 3 83328 3.60023E-5 41664 0 1.193E-5
4-114223984-C-T p.Ser846Phe missense ANK2 1 83320 1.20019E-5 41660 0 NA
4-114232419-A-C p.Thr853Pro missense ANK2 3 83304 3.60127E-5 41652 0 3.1839E-5
4-114232442-A-G p.Glu860Glu synonymous ANK2 1 83326 1.20011E-5 41663 0 NA
4-114232445-C-T p.Tyr861Tyr synonymous ANK2 5 83334 5.99995E-5 41667 0 1.89459E-4
4-114232451-G-A p.Arg863Arg synonymous ANK2 2 83334 2.39998E-5 41667 0 NA
4-114232454-T-C p.Pro864Pro synonymous ANK2 36 83338 4.31976E-4 41669 1 0.00251762
4-114232457-G-A p.Glu865Glu synonymous ANK2 1 83342 1.19988E-5 41671 0 8.2375E-6
4-114232460-C-T p.Asp866Asp synonymous ANK2 1 83340 1.1999E-5 41670 0 NA
4-114232484-A-G p.Ser874Ser synonymous ANK2 9 83350 1.07978E-4 41675 0 6.36821E-5
4-114232499-G-C p.Gln879His missense ANK2 1 83336 1.19996E-5 41668 0 NA
4-114232505-G-A p.Leu881Leu synonymous ANK2 2 83330 2.4001E-5 41665 0 3.97665E-6
4-114232508-T-C p.Asp882Asp synonymous ANK2 1 83322 1.20016E-5 41661 0 3.97668E-6
4-114232512-A-G p.Met884Val missense ANK2 3 83324 3.6004E-5 41662 0 8.24076E-6
4-114232541-A-G p.Gly893Gly synonymous ANK2 4 83310 4.80134E-5 41655 0 6.36862E-5
4-114232546-G-A p.Arg895Gln missense ANK2 1 83288 1.20065E-5 41644 0 4.77338E-5
4-114232553-C-T p.Asp897Asp splice_region+synonymous ANK2 1 83276 1.20083E-5 41638 0 NA
4-114238867-C-A p.Arg900Arg synonymous ANK2 1 83098 1.2034E-5 41549 0 NA
4-114238868-G-A p.Arg900Gln missense ANK2 4 83126 4.81197E-5 41563 0 1.65221E-5
4-114238881-C-T p.Ser904Ser synonymous ANK2 6 83174 7.21379E-5 41587 0 0.00100705
4-114238887-G-T p.Arg906Ser missense ANK2 1 83176 1.20227E-5 41588 0 NA
4-114238892-A-G p.His908Arg missense ANK2 1 83198 1.20195E-5 41599 0 NA
4-114238896-T-A p.Thr909Thr synonymous ANK2 14 83200 1.68269E-4 41600 0 2.5481E-4
4-114238903-C-T p.His912Tyr missense ANK2 1 83226 1.20155E-5 41613 0 8.25151E-6
4-114238908-C-G p.Ala913Ala synonymous ANK2 1 83224 1.20158E-5 41612 0 5.03525E-4
4-114238930-G-A p.Val921Met missense ANK2 1 83200 1.20192E-5 41600 0 0.0025
4-114238932-G-C p.Val921Val synonymous ANK2 1 83196 1.20198E-5 41598 0 NA
4-114238939-G-T p.Asp924Tyr missense ANK2 1 83166 1.20241E-5 41583 0 9.96545E-5
4-114238950-G-C p.Val927Val synonymous ANK2 10 83132 1.20291E-4 41566 0 6.37024E-5
4-114238954-C-A p.Pro929Thr missense ANK2 1 83136 1.20285E-5 41568 0 NA
4-114238969-T-A c.2796+4T>A splice_region ANK2 1 82990 1.20496E-5 41495 0 NA
4-114239667-G-T c.2797-6G>T splice_region ANK2 1 83234 1.20143E-5 41617 0 NA
4-114239690-G-A p.Lys938Lys synonymous ANK2 2 83288 2.40131E-5 41644 0 7.97334E-6
4-114239695-C-G p.Ala940Gly missense ANK2 13 83278 1.56104E-4 41639 0 8.68024E-4
4-114239696-A-G p.Ala940Ala synonymous ANK2 1 83286 1.20068E-5 41643 0 NA
4-114239712-C-T p.Arg946Cys missense ANK2 8 83298 9.60407E-5 41649 0 9.72006E-5
4-114239713-G-A p.Arg946His missense ANK2 2 83294 2.40113E-5 41647 0 6.37105E-5
4-114239715-C-T p.Leu947Leu synonymous ANK2 4 83300 4.80192E-5 41650 0 5.04032E-4
4-114239726-C-A p.Gly950Gly synonymous ANK2 5 83288 6.00327E-5 41644 0 3.70654E-4
4-114239729-T-G p.Thr951Thr synonymous ANK2 1 83296 1.20054E-5 41648 0 NA
4-114239733-A-T p.Asn953Tyr missense ANK2 1 83292 1.2006E-5 41646 0 3.98676E-6
4-114239735-C-G p.Asn953Lys missense ANK2 1 83286 1.20068E-5 41643 0 1.80132E-5
4-114239744-C-T p.Asn956Asn synonymous ANK2 14 83268 1.68132E-4 41634 0 2.86624E-4
4-114239745-G-A p.Val957Met missense ANK2 3 83264 3.603E-5 41632 0 4.39315E-5
4-114239775-G-C p.Gly967Arg missense+splice_region ANK2 1 83152 1.20262E-5 41576 0 1.10774E-5
4-114244911-G-A c.2838-4G>A splice_region ANK2 26 82420 3.15457E-4 41210 1 4.77707E-4
4-114244917-G-A p.Arg947His missense+splice_region ANK2 4 82442 4.8519E-5 41221 0 7.63398E-5
4-114244926-C-A p.Pro950Gln missense ANK2 6 82474 7.27502E-5 41237 0 6.25E-4
4-114244927-A-G p.Pro950Pro synonymous ANK2 1 82462 1.21268E-5 41231 0 NA
4-114244928-T-C p.Cys951Arg missense ANK2 2 82474 2.42501E-5 41237 0 NA
4-114244929-G-A p.Cys951Tyr missense ANK2 1 82470 1.21256E-5 41235 0 8.46826E-6
4-114244933-T-C p.Leu952Leu synonymous ANK2 1 82466 1.21262E-5 41233 0 1.61272E-5
4-114244938-G-A p.Arg954His missense ANK2 1 82444 1.21294E-5 41222 0 1.69385E-5
4-114244941-A-G p.Asp955Gly missense ANK2 4 82456 4.85107E-5 41228 0 9.55475E-5
4-114244943-A-G p.Asn956Asp missense ANK2 2 82450 2.42571E-5 41225 0 NA
4-114244944-ACAG-A p.Arg954del conservative_inframe_deletion ANK2 1 82446 1.21292E-5 41223 0 NA
4-114251394-A-AT c.2901-8_2901-7insT splice_region ANK2 1 82972 1.20523E-5 41486 0 5.41383E-5
4-114251395-T-C c.2901-7T>C splice_region ANK2 2 82988 2.40999E-5 41494 0 NA
4-114251415-T-C p.Phe972Leu missense ANK2 2 83220 2.40327E-5 41610 0 NA
4-114251418-A-C p.Met973Leu missense ANK2 1 83238 1.20137E-5 41619 0 NA
4-114251431-G-A p.Arg977Gln missense ANK2 2 83232 2.40292E-5 41616 0 3.18451E-5
4-114251463-G-T p.Gly988Trp missense ANK2 1 83258 1.20109E-5 41629 0 NA
4-114251465-G-T p.Gly988Gly synonymous ANK2 3 83242 3.60395E-5 41621 0 9.55231E-5
4-114251470-G-A p.Arg990Gln missense ANK2 5 83246 6.00629E-5 41623 0 2.48139E-5
4-114251471-A-C p.Arg990Arg synonymous ANK2 106 83254 0.00127321 41627 1 0.00289772
4-114251475-A-G p.Ile992Val missense ANK2 1 83246 1.20126E-5 41623 0 1.65363E-5
4-114251487-C-T p.Arg996Trp missense ANK2 1 83212 1.20175E-5 41606 0 1.91058E-4
4-114251492-A-G p.Lys997Lys synonymous ANK2 1 83194 1.20201E-5 41597 0 3.1839E-5
4-114251497-C-G p.Thr999Ser missense ANK2 1 83196 1.20198E-5 41598 0 3.97991E-6
4-114251533-G-A p.Arg1011His missense ANK2 1 83038 1.20427E-5 41519 0 NA
4-114251534-C-T p.Arg1011Arg synonymous ANK2 35 83020 4.21585E-4 41510 0 1.91058E-4
4-114251537-C-T p.His1012His synonymous ANK2 3 83016 3.61376E-5 41508 0 NA
4-114251538-A-C p.Arg1013Arg synonymous ANK2 2 83000 2.40964E-5 41500 0 3.18431E-5
4-114251559-A-G p.Met1020Val missense ANK2 2 82892 2.41278E-5 41446 0 1.65044E-5
4-114251568-G-A p.Gly1023Arg missense ANK2 1 82806 1.20764E-5 41403 0 9.5511E-5
4-114251569-G-A p.Gly1023Glu missense ANK2 1 82784 1.20796E-5 41392 0 NA
4-114251575-G-C p.Gly1025Ala missense ANK2 14 82696 1.69295E-4 41348 0 1.67315E-4
4-114251575-G-T p.Gly1025Val missense ANK2 1 82696 1.20925E-5 41348 0 1.65251E-5
4-114251576-C-T p.Gly1025Gly synonymous ANK2 1 82702 1.20916E-5 41351 0 8.26378E-6
4-114251586-C-T p.Arg1029Cys missense ANK2 7 82554 8.4793E-5 41277 0 8.27185E-6
4-114251591-G-T p.Leu1030Leu synonymous ANK2 4 82490 4.84907E-5 41245 0 3.18451E-5
4-114251594-C-T p.Ile1031Ile synonymous ANK2 3 82444 3.63883E-5 41222 0 1.59496E-5
4-114251595-G-A p.Glu1032Lys missense ANK2 1 82416 1.21336E-5 41208 0 6.36821E-5
4-114251597-A-G p.Glu1032Glu synonymous ANK2 2 82378 2.42783E-5 41189 0 NA
4-114251599-T-G p.Val1033Gly missense ANK2 1 82356 1.21424E-5 41178 0 1.65837E-5
4-114251621-C-T p.Phe1040Phe synonymous ANK2 1 81808 1.22237E-5 40904 0 3.99655E-6
4-114251625-G-T p.Gly1042Trp missense+splice_region ANK2 1 81662 1.22456E-5 40831 0 NA
4-114251632-G-A c.3125+6G>A splice_region ANK2 2 81406 2.45682E-5 40703 0 2.54699E-5
4-114253138-C-T p.Leu1046Leu synonymous ANK2 5 83322 6.00082E-5 41661 0 1.07073E-4
4-114253151-C-A p.Pro1050His missense ANK2 1 83332 1.20002E-5 41666 0 NA
4-114253156-C-T p.Pro1052Ser missense ANK2 2 83352 2.39946E-5 41676 0 3.18492E-5
4-114253157-C-G p.Pro1052Arg missense ANK2 3 83360 3.59885E-5 41680 0 1.19294E-5
4-114253206-T-G p.Pro1068Pro synonymous ANK2 1 83362 1.19959E-5 41681 0 NA
4-114253232-A-G c.3224+6A>G splice_region ANK2 3 83348 3.59937E-5 41674 0 6.37471E-5
4-114253233-G-A c.3224+7G>A splice_region ANK2 8 83352 9.59785E-5 41676 0 6.25E-4
4-114254220-G-A p.Val1046Met missense ANK2 1 83348 1.19979E-5 41674 0 3.97697E-6
4-114254240-G-T p.Ala1052Ala synonymous ANK2 64 83370 7.67662E-4 41685 0 0.00156021
4-114254240-G-A p.Ala1052Ala synonymous ANK2 2 83374 2.39883E-5 41687 0 2.78385E-5
4-114254248-G-A p.Arg1055Gln missense ANK2 1 83382 1.1993E-5 41691 0 3.97703E-6
4-114254277-C-T p.Arg1065Cys missense ANK2 2 83390 2.39837E-5 41695 0 1.64745E-5
4-114254312-C-T p.Phe1076Phe synonymous ANK2 1 83404 1.19898E-5 41702 0 7.95323E-6
4-114254314-G-A p.Cys1077Tyr missense ANK2 1 83400 1.19904E-5 41700 0 NA
4-114254317-A-G p.Asp1078Gly missense ANK2 1 83394 1.19913E-5 41697 0 NA
4-114254340-G-T p.Glu1086* stop_gained ANK2 1 83362 1.19959E-5 41681 0 NA
4-114254351-C-T p.Asn1089Asn synonymous ANK2 137 83342 0.00164383 41671 0 0.005
4-114254352-G-A p.Gly1090Ser missense ANK2 1 83346 1.19982E-5 41673 0 2.47137E-5
4-114254357-G-C p.Met1091Ile missense ANK2 3 83336 3.59988E-5 41668 0 1.64769E-5
4-114254358-G-C p.Asp1092His missense ANK2 2 83336 2.39992E-5 41668 0 3.18552E-5
4-114254360-T-C p.Asp1092Asp synonymous ANK2 1 83330 1.20005E-5 41665 0 NA
4-114254368-C-T c.3280+4C>T splice_region ANK2 2 83300 2.40096E-5 41650 0 6.25E-4
4-114254368-C-A c.3280+4C>A splice_region ANK2 2 83300 2.40096E-5 41650 0 3.18613E-5
4-114256994-T-C c.3281-8T>C splice_region ANK2 1 83224 1.20158E-5 41612 0 8.2575E-6
4-114257004-C-T p.Leu1095Leu splice_region+synonymous ANK2 2 83236 2.40281E-5 41618 0 3.97915E-6
4-114257015-A-G p.Pro1098Pro synonymous ANK2 1 83222 1.20161E-5 41611 0 3.97867E-6
4-114257016-G-C p.Glu1099Gln missense ANK2 1 83224 1.20158E-5 41612 0 NA
4-114257022-C-T p.Leu1101Leu synonymous ANK2 1 83222 1.20161E-5 41611 0 1.91192E-4
4-114257037-A-C p.Ile1106Leu missense ANK2 1 83174 1.2023E-5 41587 0 3.18532E-5
4-114257043-C-T p.Arg1108Cys missense ANK2 3 83154 3.60776E-5 41577 0 2.47158E-5
4-114257078-A-C p.Ala1119Ala synonymous ANK2 1 83048 1.20412E-5 41524 0 NA
4-114257093-C-T p.Ile1124Ile synonymous ANK2 2 82988 2.40999E-5 41494 0 3.97988E-6
4-114257129-T-C p.Gly1136Gly synonymous ANK2 4 82762 4.83314E-5 41381 0 6.25E-4
4-114257132-A-G p.Val1137Val synonymous ANK2 1088 82672 0.0131604 41336 30 0.0255053
4-114257137-G-A p.Ser1139Asn missense ANK2 1 82686 1.20939E-5 41343 0 5.97514E-5
4-114257148-G-T p.Val1143Leu missense ANK2 2 82516 2.42377E-5 41258 0 5.04541E-4
4-114257161-A-G p.Gln1147Arg missense ANK2 2 82330 2.42925E-5 41165 0 2.39297E-5
4-114257165-C-T p.Ala1148Ala synonymous ANK2 145 82224 0.00176348 41112 0 0.005
4-114257181-G-A p.Ala1154Thr missense ANK2 1 81870 1.22145E-5 40935 0 8.29146E-6
4-114257193-C-T p.Arg1158Trp missense ANK2 1 81436 1.22796E-5 40718 0 1.66052E-5
4-114257194-G-A p.Arg1158Gln missense ANK2 7 81410 8.59845E-5 40705 0 6.37146E-5
4-114257199-C-T p.Arg1160Cys missense ANK2 1 81166 1.23204E-5 40583 0 1.60167E-5
4-114257201-C-T p.Arg1160Arg synonymous ANK2 11303 78384 0.1442 39192 881 0.224764
4-114257621-T-C n.122T>C splice_region ANK2 2 68298 2.92834E-5 34149 0 NA
4-114257629-T-TAA n.123+7_123+8insAA splice_region ANK2 7806 70712 0.110391 35356 821 0.143231
4-114257629-T-TA n.123+7_123+8insA splice_region ANK2 4603 70654 0.0651485 35327 274 0.0917625
4-114257725-T-A c.3493-8T>A splice_region ANK2 2 83146 2.40541E-5 41573 0 3.77672E-5
4-114257733-G-T p.Ala1165Ser missense+splice_region ANK2 3 83190 3.6062E-5 41595 0 3.18674E-5
4-114257764-A-C p.Lys1175Thr missense ANK2 2 83288 2.40131E-5 41644 0 2.47684E-5
4-114257771-A-G p.Leu1177Leu synonymous ANK2 1 83298 1.20051E-5 41649 0 NA
4-114257793-C-T p.Pro1185Ser missense ANK2 4 83316 4.801E-5 41658 0 3.18552E-5
4-114257817-A-C p.Arg1193Arg synonymous ANK2 1 83324 1.20013E-5 41662 0 NA
4-114257840-T-A p.Ile1200Ile synonymous ANK2 2 83320 2.40038E-5 41660 0 8.23805E-6
4-114257842-C-G p.Thr1201Ser missense ANK2 2 83320 2.40038E-5 41660 0 3.18512E-5
4-114257844-A-G p.Met1202Val missense ANK2 1 83318 1.20022E-5 41659 0 3.18512E-5
4-114257878-T-C p.Val1213Ala missense ANK2 2 83286 2.40136E-5 41643 0 8.23832E-6
4-114257911-C-T p.Thr1224Ile missense ANK2 1 83214 1.20172E-5 41607 0 3.97785E-6
4-114257921-A-G p.Leu1227Leu synonymous ANK2 1 83156 1.20256E-5 41578 0 3.97833E-6
4-114257926-G-A p.Cys1229Tyr missense ANK2 3 83128 3.60889E-5 41564 0 3.97871E-6
4-114260410-T-C p.Asp1242Asp synonymous ANK2 2 83222 2.40321E-5 41611 0 5.03525E-4
4-114260416-A-G p.Thr1244Thr synonymous ANK2 1 83224 1.20158E-5 41612 0 1.64785E-5
4-114260424-C-T p.Thr1247Met missense ANK2 2 83214 2.40344E-5 41607 0 3.18654E-5
4-114260450-G-C p.Val1256Leu missense ANK2 1 83234 1.20143E-5 41617 0 3.18776E-5
4-114260462-A-G p.Thr1260Ala missense ANK2 1 83230 1.20149E-5 41615 0 NA
4-114260467-C-T p.Asn1261Asn synonymous ANK2 3 83228 3.60456E-5 41614 0 3.18492E-5
4-114260484-G-T c.3794+6G>T splice_region ANK2 1 83196 1.20198E-5 41598 0 3.9794E-6
4-114262838-T-C c.3795-6T>C splice_region ANK2 1 82462 1.21268E-5 41231 0 NA
4-114262841-T-C c.3795-3T>C splice_region ANK2 2 82548 2.42283E-5 41274 0 NA
4-114262864-G-A p.Arg1272Gln missense ANK2 1 82696 1.20925E-5 41348 0 8.23886E-6
4-114262877-A-G p.Glu1276Glu synonymous ANK2 15 82732 1.81308E-4 41366 0 7.90813E-4
4-114262880-C-T p.Ser1277Ser synonymous ANK2 1 82736 1.20866E-5 41368 0 4.11875E-5
4-114262881-G-A p.Val1278Ile missense ANK2 5 82760 6.04157E-5 41380 0 1.27453E-4
4-114262890-G-C p.Ala1281Pro missense ANK2 1 82828 1.20732E-5 41414 0 NA
4-114262892-A-G p.Ala1281Ala synonymous ANK2 2 82862 2.41365E-5 41431 0 3.97893E-6
4-114262899-G-A p.Val1284Ile missense ANK2 1 82892 1.20639E-5 41446 0 3.18532E-5
4-114262913-T-C p.Ile1288Ile synonymous ANK2 8 82990 9.63972E-5 41495 0 2.86642E-4
4-114262919-C-T p.Cys1290Cys synonymous ANK2 4 83016 4.81835E-5 41508 0 3.18573E-5
4-114262929-A-G p.Met1294Val missense ANK2 1 83060 1.20395E-5 41530 0 1.19355E-5
4-114262966-C-T p.Pro1306Leu missense ANK2 11 82984 1.32556E-4 41492 0 9.55657E-5
4-114262968-A-G p.Ile1307Val missense ANK2 1 83002 1.20479E-5 41501 0 NA
4-114262995-A-G p.Met1? start_lost ANK2 2 82974 2.41039E-5 41487 0 8.23764E-6
4-114262999-C-G p.Thr1317Ser missense ANK2 1 82950 1.20555E-5 41475 0 8.23845E-6
4-114263024-T-C p.Leu1325Leu synonymous ANK2 2 82696 2.4185E-5 41348 0 2.39006E-5
4-114263034-G-C p.Glu1329Gln missense ANK2 5 82622 6.05166E-5 41311 0 2.47758E-5
4-114263052-G-A p.Ala1335Thr missense ANK2 4 82368 4.85625E-5 41184 0 3.99955E-6
4-114263052-G-T p.Ala1335Ser missense ANK2 4 82368 4.85625E-5 41184 0 NA
4-114263059-G-C p.Ser1337Thr missense ANK2 3 82336 3.64361E-5 41168 0 8.00833E-6
4-114263060-CAGGGATGTGGAGG-C p.Arg1338_Glu1341del splice_donor ANK2 1 82344 1.21442E-5 41172 0 NA
4-114263060-C-CT p.Arg1338fs frameshift ANK2 1 82344 1.21442E-5 41172 0 NA
4-114263060-C-CTATTAA p.Ser1337_Arg1338insTyrTer stop_gained ANK2 1 82344 1.21442E-5 41172 0 NA
4-114263076-C-T c.4023+4C>T splice_region ANK2 2 81986 2.43944E-5 40993 0 2.52334E-5
4-114263077-TGTACCA-T c.4023+6_4023+11delGTACCA splice_region ANK2 1 81928 1.22058E-5 40964 0 NA
4-114264173-G-T p.Val1342Leu missense+splice_region ANK2 1 83084 1.2036E-5 41542 0 NA
4-114264196-C-T p.Tyr1349Tyr synonymous ANK2 5 83112 6.01598E-5 41556 0 3.18492E-5
4-114264202-T-C p.Asp1351Asp synonymous ANK2 147 83122 0.00176848 41561 0 0.005
4-114264209-G-A p.Gly1354Ser missense ANK2 1 83106 1.20328E-5 41553 0 8.24049E-6
4-114264219-T-A p.Val1357Glu missense ANK2 1 83124 1.20302E-5 41562 0 NA
4-114264223-A-G p.Pro1358Pro synonymous ANK2 1 83124 1.20302E-5 41562 0 NA
4-114264256-T-C p.Ser1369Ser synonymous ANK2 1 83078 1.20369E-5 41539 0 3.18512E-5
4-114264270-A-G p.Lys1374Arg missense ANK2 4 83040 4.81696E-5 41520 0 1.91083E-4
4-114264273-A-T p.Glu1375Val missense ANK2 1 83026 1.20444E-5 41513 0 3.98197E-6
4-114264281-C-T p.Leu1378Phe missense ANK2 1 82982 1.20508E-5 41491 0 NA
4-114264299-G-C c.4149+1G>C splice_donor ANK2 1 82886 1.20648E-5 41443 0 NA
4-114264303-T-TA c.4149+5_4149+6insA splice_region ANK2 2 82858 2.41377E-5 41429 0 3.1841E-5
4-114267052-C-T c.4150-4C>T splice_region ANK2 3 82910 3.61838E-5 41455 0 NA
4-114267056-G-A p.Val1384Ile missense+splice_region ANK2 2 82908 2.41231E-5 41454 0 2.47329E-5
4-114267059-C-T p.Arg1385Cys missense ANK2 3 82904 3.61864E-5 41452 0 3.29766E-5
4-114267061-C-T p.Arg1385Arg synonymous ANK2 1 82910 1.20613E-5 41455 0 9.55597E-5
4-114267066-C-T p.Thr1387Met missense ANK2 9 82934 1.0852E-4 41467 0 1.2343E-4
4-114267067-G-A p.Thr1387Thr synonymous ANK2 3 82940 3.61707E-5 41470 0 1.27405E-4
4-114267077-C-A p.Pro1391Thr missense ANK2 1 82950 1.20555E-5 41475 0 NA
4-114267094-A-G p.Ser1396Ser synonymous ANK2 11 82970 1.32578E-4 41485 0 6.25E-4
4-114267106-G-T p.Glu1400Asp missense ANK2 1 82986 1.20502E-5 41493 0 3.18532E-5
4-114267107-C-A p.Pro1401Thr missense ANK2 1 82982 1.20508E-5 41491 0 NA
4-114267117-C-T p.Thr1404Met missense ANK2 12 83044 1.44502E-4 41522 0 3.18471E-4
4-114267118-G-A p.Thr1404Thr synonymous ANK2 3 83046 3.61246E-5 41523 0 1.91095E-4
4-114267122-G-T p.Gly1406Cys missense ANK2 19 83050 2.28778E-4 41525 0 2.88531E-4
4-114267123-G-T p.Gly1406Val missense ANK2 3 83042 3.61263E-5 41521 0 NA
4-114267154-C-T p.Asn1416Asn synonymous ANK2 1 83048 1.20412E-5 41524 0 3.98086E-6
4-114267164-C-A p.Pro1420Thr missense ANK2 1 82988 1.20499E-5 41494 0 NA
4-114267170-T-TATACG p.Lys1424fs frameshift ANK2 1 82958 1.20543E-5 41479 0 NA
4-114267174-C-A p.Thr1423Lys missense ANK2 1 82950 1.20555E-5 41475 0 NA
4-114267176-A-G p.Lys1424Glu missense+splice_region ANK2 1 82928 1.20587E-5 41464 0 3.1841E-5
4-114267181-A-G c.4272+3A>G splice_region ANK2 1 82906 1.20619E-5 41453 0 NA
4-114267183-C-T c.4272+5C>T splice_region ANK2 3 82886 3.61943E-5 41443 0 NA
4-114267184-G-A c.4272+6G>A splice_region ANK2 14 82876 1.68927E-4 41438 0 4.38045E-5
4-114269425-C-T c.4273-7C>T splice_region ANK2 10 83130 1.20294E-4 41565 0 6.25E-4
4-114269433-A-G p.Glu1425Gly missense+splice_region ANK2 80 83160 9.62001E-4 41580 2 5.4563E-4
4-114269435-T-A p.Ser1426Thr missense ANK2 1 83174 1.2023E-5 41587 0 NA
4-114269453-C-A p.Gln1432Lys missense ANK2 11 83186 1.32234E-4 41593 0 0.001875
4-114274194-A-G c.4328-7A>G splice_region ANK2 2 82492 2.42448E-5 41246 0 NA
4-114274202-T-C p.Asn1443Asn splice_region+synonymous ANK2 2 82578 2.42195E-5 41289 0 3.99275E-6
4-114274210-C-A p.Thr1446Lys missense ANK2 1 82610 1.21051E-5 41305 0 NA
4-114274226-A-G p.Thr1451Thr synonymous ANK2 1 82696 1.20925E-5 41348 0 1.65423E-5
4-114274227-T-C p.Ser1452Pro missense ANK2 1 82708 1.20907E-5 41354 0 3.98705E-6
4-114274230-G-C p.Val1453Leu missense ANK2 25 82712 3.02254E-4 41356 0 2.8677E-4
4-114274244-C-G p.His1457Gln missense ANK2 1 82756 1.20837E-5 41378 0 NA
4-114274264-T-C p.Val1464Ala missense ANK2 1 82706 1.2091E-5 41353 0 NA
4-114274276-C-T p.Pro1468Leu missense ANK2 8 82628 9.68195E-5 41314 0 2.47578E-5
4-114274277-G-A p.Pro1468Pro synonymous ANK2 1 82624 1.2103E-5 41312 0 8.25232E-6
4-114274308-C-A p.Gln1479Lys missense ANK2 1 82448 1.21289E-5 41224 0 8.25042E-6
4-114274328-C-T p.Thr1485Thr synonymous ANK2 4 82312 4.85956E-5 41156 0 3.30147E-5
4-114274329-G-T p.Ala1486Ser missense ANK2 4 82296 4.8605E-5 41148 0 2.47627E-5
4-114274331-C-T p.Ala1486Ala synonymous ANK2 2 82294 2.43031E-5 41147 0 NA
4-114274341-A-G p.Thr1490Ala missense ANK2 1 82234 1.21604E-5 41117 0 NA
4-114274358-G-A p.Lys1495Lys synonymous ANK2 1 82198 1.21657E-5 41099 0 NA
4-114274363-G-C p.Gly1497Ala missense ANK2 1 82176 1.2169E-5 41088 0 6.37227E-5
4-114274383-C-T p.Leu1504Leu synonymous ANK2 1 82278 1.21539E-5 41139 0 NA
4-114274392-G-T p.Ala1507Ser missense ANK2 1 82324 1.21471E-5 41162 0 8.2672E-6
4-114274408-C-T p.Pro1512Leu missense ANK2 1 82476 1.21247E-5 41238 0 3.99163E-6
4-114274427-C-T p.Ile1518Ile synonymous ANK2 8 82666 9.6775E-5 41333 0 5.78924E-5
4-114274428-G-A p.Val1519Ile missense ANK2 3 82682 3.62836E-5 41341 0 3.30825E-5
4-114274446-G-A p.Asp1525Asn missense ANK2 1 82800 1.20773E-5 41400 0 NA
4-114274469-C-T p.Ile1532Ile synonymous ANK2 2 82866 2.41354E-5 41433 0 2.39655E-5
4-114274484-C-G p.Thr1537Thr synonymous ANK2 1 82888 1.20645E-5 41444 0 NA
4-114274484-C-T p.Thr1537Thr synonymous ANK2 6 82888 7.23868E-5 41444 0 6.37186E-5
4-114274489-C-T p.Thr1539Ile missense ANK2 1 82884 1.20651E-5 41442 0 NA
4-114274515-T-C p.Ser1548Pro missense ANK2 2 82814 2.41505E-5 41407 0 NA
4-114274518-C-T p.Arg1549Trp missense ANK2 154 82798 0.00185995 41399 0 0.00379126
4-114274519-G-A p.Arg1549Gln missense ANK2 55 82782 6.64396E-4 41391 0 9.87198E-4
4-114274543-A-C p.Glu1557Ala missense ANK2 2 82568 2.42225E-5 41284 0 NA
4-114274556-T-G p.Ile1561Met missense ANK2 2 82350 2.42866E-5 41175 0 1.73855E-4
4-114274573-T-C p.Ile1567Thr missense ANK2 1 82100 1.21803E-5 41050 0 3.31274E-5
4-114274585-G-A p.Arg1571Lys missense ANK2 6 82000 7.31707E-5 41000 0 0.00100705
4-114274609-C-T p.Thr1579Ile missense ANK2 14 81898 1.70944E-4 40949 0 0.00352467
4-114274610-T-C p.Thr1579Thr synonymous ANK2 1 81916 1.22076E-5 40958 0 NA
4-114274613-A-C p.Glu1580Asp missense ANK2 1 81930 1.22055E-5 40965 0 8.28144E-6
4-114274623-G-T p.Val1584Leu missense ANK2 3 81988 3.65907E-5 40994 0 NA
4-114274626-G-A p.Glu1585Lys missense ANK2 3 81988 3.65907E-5 40994 0 NA
4-114274629-G-A p.Val1586Ile missense ANK2 1 82010 1.21936E-5 41005 0 3.99639E-6
4-114274652-A-ATCTT p.Gly1594fs frameshift ANK2 1 82354 1.21427E-5 41177 0 NA
4-114274658-A-G p.Lys1595Lys synonymous ANK2 1 82436 1.21306E-5 41218 0 3.99026E-6
4-114274679-G-C p.Gly1602Gly synonymous ANK2 1 82736 1.20866E-5 41368 0 3.98664E-6
4-114274686-A-G p.Asn1605Asp missense ANK2 2 82834 2.41447E-5 41417 0 2.7894E-5
4-114274701-G-T p.Asp1610Tyr missense ANK2 1 82974 1.2052E-5 41487 0 NA
4-114274704-C-A p.Leu1611Met missense ANK2 1 82984 1.20505E-5 41492 0 2.47533E-5
4-114274732-A-T p.Glu1620Val missense ANK2 2 83116 2.40628E-5 41558 0 NA
4-114274739-G-A p.Leu1622Leu synonymous ANK2 1 83130 1.20294E-5 41565 0 3.9821E-6
4-114274748-T-G p.Val1625Val synonymous ANK2 1 83160 1.2025E-5 41580 0 1.99098E-5
4-114274755-A-G p.Lys1628Glu missense ANK2 1 83178 1.20224E-5 41589 0 9.90459E-5
4-114274756-A-G p.Lys1628Arg missense ANK2 1 83186 1.20213E-5 41593 0 9.55475E-5
4-114274771-G-A p.Cys1633Tyr missense ANK2 3 83178 3.60672E-5 41589 0 3.98149E-6
4-114274791-A-G p.Arg1640Gly missense ANK2 1 83146 1.2027E-5 41573 0 3.98327E-6
4-114274806-G-A p.Glu1645Lys missense ANK2 1 83090 1.20351E-5 41545 0 4.1388E-5
4-114274813-AAGACATACCCCC-A p.Ile1649_Asp1652del disruptive_inframe_deletion ANK2 1 83064 1.20389E-5 41532 0 NA
4-114274825-C-T p.Pro1651Leu missense ANK2 1 83026 1.20444E-5 41513 0 1.19761E-5
4-114274837-A-G p.Gln1655Arg missense ANK2 10 82952 1.20552E-4 41476 0 6.37024E-5
4-114274865-C-T p.Ser1664Ser synonymous ANK2 2 82718 2.41785E-5 41359 0 NA
4-114274872-A-G p.Ile1667Val missense ANK2 1 82638 1.2101E-5 41319 0 NA
4-114274883-A-G p.Pro1670Pro synonymous ANK2 2 82444 2.42589E-5 41222 0 8.01687E-6
4-114274908-C-A p.Gln1679Lys missense ANK2 4 81568 4.90388E-5 40784 0 8.34126E-6
4-114274915-A-G p.Gln1681Arg missense ANK2 1 81262 1.23059E-5 40631 0 NA
4-114274920-G-A p.Glu1683Lys missense ANK2 1 81190 1.23168E-5 40595 0 NA
4-114274922-G-A p.Glu1683Glu synonymous ANK2 5 81186 6.1587E-5 40593 0 5.03525E-4
4-114274940-T-A p.Ser1689Arg missense ANK2 1 81040 1.23396E-5 40520 0 3.18451E-5
4-114274976-A-G p.Glu1701Glu synonymous ANK2 1 81714 1.22378E-5 40857 0 4.00529E-6
4-114274994-C-A p.Asp1707Glu missense ANK2 1 81910 1.22085E-5 40955 0 NA
4-114275004-G-A p.Ala1711Thr missense ANK2 9 81968 1.09799E-4 40984 0 3.18492E-5
4-114275005-C-A p.Ala1711Asp missense ANK2 5 81960 6.10054E-5 40980 0 1.91046E-4
4-114275005-C-T p.Ala1711Val missense ANK2 1 81960 1.22011E-5 40980 0 9.55231E-5
4-114275012-A-T p.Glu1713Asp missense ANK2 1 82056 1.21868E-5 41028 0 NA
4-114275014-C-G p.Pro1714Arg missense ANK2 16 82100 1.94884E-4 41050 0 3.39848E-4
4-114275055-A-G p.Thr1728Ala missense ANK2 1 82496 1.21218E-5 41248 0 NA
4-114275085-A-G p.Lys1738Glu missense ANK2 1 82652 1.20989E-5 41326 0 1.65232E-5
4-114275103-G-C p.Val1744Leu missense ANK2 1 82742 1.20858E-5 41371 0 6.37064E-5
4-114275125-G-C p.Arg1751Pro missense ANK2 1 82726 1.20881E-5 41363 0 8.25232E-6
4-114275141-C-G p.Ile1756Met missense ANK2 2 82692 2.41861E-5 41346 0 NA
4-114275145-G-A p.Val1758Ile missense ANK2 9 82700 1.08827E-4 41350 0 2.5507E-4
4-114275159-G-GGAC p.Asp1763dup disruptive_inframe_insertion ANK2 1 82654 1.20986E-5 41327 0 NA
4-114275163-G-A p.Val1764Met missense ANK2 1 82636 1.21013E-5 41318 0 7.97944E-6
4-114275177-C-G p.Thr1768Thr synonymous ANK2 4 82648 4.8398E-5 41324 0 6.25E-4
4-114275200-C-T p.Ala1776Val missense ANK2 1 82740 1.20861E-5 41370 0 3.3E-5
4-114275201-G-A p.Ala1776Ala synonymous ANK2 1 82748 1.20849E-5 41374 0 2.39395E-5
4-114275230-C-T p.Ala1786Val missense ANK2 3 82944 3.6169E-5 41472 0 2.79027E-5
4-114275231-G-A p.Ala1786Ala synonymous ANK2 7 82958 8.438E-5 41479 0 1.27518E-4
4-114275237-G-A p.Gly1788Gly synonymous ANK2 1 83018 1.20456E-5 41509 0 1.19557E-5
4-114275241-CCC-TCT p.Pro1790Ser missense ANK2 1 83056 1.20401E-5 41528 0 NA
4-114275243-C-T p.Pro1790Pro synonymous ANK2 8432 82938 0.101666 41469 529 0.123364
4-114275247-C-G p.Pro1792Ala missense ANK2 1 83082 1.20363E-5 41541 0 NA
4-114275263-A-G p.His1797Arg missense ANK2 1 83140 1.20279E-5 41570 0 6.38855E-5
4-114275266-C-T p.Ser1798Phe missense ANK2 1 83158 1.20253E-5 41579 0 3.98019E-6
4-114275269-C-T p.Thr1799Ile missense ANK2 8 83162 9.61978E-5 41581 0 1.99E-5
4-114275271-C-T p.Leu1800Phe missense ANK2 1 83170 1.20236E-5 41585 0 3.18573E-5
4-114275272-T-C p.Leu1800Pro missense ANK2 1 83186 1.20213E-5 41593 0 NA
4-114275281-C-G p.Ser1803Cys missense ANK2 1 83188 1.2021E-5 41594 0 NA
4-114275282-C-T p.Ser1803Ser synonymous ANK2 3 83194 3.60603E-5 41597 0 6.25E-4
4-114275283-G-A p.Ala1804Thr missense ANK2 23 83180 2.76509E-4 41590 0 1.97759E-4
4-114275283-G-T p.Ala1804Ser missense ANK2 1 83180 1.20221E-5 41590 0 NA
4-114275289-A-C p.Thr1806Pro missense ANK2 1 83204 1.20187E-5 41602 0 2.47158E-5
4-114275297-G-A p.Arg1808Arg synonymous ANK2 12 83220 1.44196E-4 41610 0 1.91156E-4
4-114275313-C-T p.Pro1814Ser missense ANK2 1 83272 1.20088E-5 41636 0 3.98007E-6
4-114275315-A-G p.Pro1814Pro synonymous ANK2 1 83276 1.20083E-5 41638 0 3.97956E-6
4-114275316-T-G p.Ser1815Ala missense ANK2 1 83278 1.2008E-5 41639 0 NA
4-114275318-AAGTAAAACTGAGAAACACTCACCTGTGTCACCCTCTGCAAAAACGGAAAGACATTCACCTGCGTCATCATCG-A p.Ser1825_Val1848del disruptive_inframe_deletion ANK2 1 83280 1.20077E-5 41640 0 8.23873E-6
4-114275320-G-A p.Ser1816Asn missense ANK2 1 83278 1.2008E-5 41639 0 NA
4-114275344-T-A p.Val1824Glu missense ANK2 6 83292 7.20357E-5 41646 0 0.00125
4-114275345-GTCACCCTCTGCAAAAACGGAAAGACATTCACCTGCGTCATCATCGAGTAAAACTGAGAAACACTCACCTGTA-G p.Ala1828_Ser1851del disruptive_inframe_deletion ANK2 1 83292 1.2006E-5 41646 0 3.18573E-5
4-114275349-C-A p.Pro1826Thr missense ANK2 3 83300 3.60144E-5 41650 0 2.7872E-5
4-114275362-C-T p.Thr1830Met missense ANK2 2 83284 2.40142E-5 41642 0 6.25E-4
4-114275369-A-T p.Arg1832Ser missense ANK2 1 83274 1.20085E-5 41637 0 3.98318E-6
4-114275376-C-T p.Pro1835Ser missense ANK2 1 83248 1.20123E-5 41624 0 3.98137E-6
4-114275380-C-T p.Ala1836Val missense ANK2 1 83230 1.20149E-5 41615 0 3.18735E-5
4-114275381-G-T p.Ala1836Ala synonymous ANK2 1 83232 1.20146E-5 41616 0 8.23845E-6
4-114275381-G-A p.Ala1836Ala synonymous ANK2 3 83232 3.60438E-5 41616 0 1.59406E-4
4-114275389-C-T p.Ser1839Leu missense ANK2 1 83192 1.20204E-5 41596 0 8.23737E-6
4-114275390-G-A p.Ser1839Ser synonymous ANK2 1 83188 1.2021E-5 41594 0 3.18857E-5
4-114275390-G-C p.Ser1839Ser synonymous ANK2 2 83188 2.40419E-5 41594 0 NA
4-114275400-G-C p.Glu1843Gln missense ANK2 1 83160 1.2025E-5 41580 0 3.98333E-6
4-114275402-G-A p.Glu1843Glu synonymous ANK2 2 83156 2.40512E-5 41578 0 7.96724E-6
4-114275415-G-T p.Val1848Leu missense ANK2 1 83126 1.20299E-5 41563 0 1.19524E-5
4-114275416-T-A p.Val1848Glu missense ANK2 1 83120 1.20308E-5 41560 0 NA
4-114275425-C-T p.Ser1851Leu missense ANK2 15 83094 1.80518E-4 41547 0 5.03525E-4
4-114275451-G-A p.Val1860Met missense ANK2 1 83130 1.20294E-5 41565 0 NA
4-114275456-A-G p.Ser1861Ser synonymous ANK2 1 83156 1.20256E-5 41578 0 NA
4-114275472-A-G p.Arg1867Gly missense ANK2 1 83162 1.20247E-5 41581 0 8.24266E-6
4-114275488-C-T p.Ser1872Leu missense ANK2 1 83150 1.20265E-5 41575 0 3.29821E-5
4-114275489-G-A p.Ser1872Ser synonymous ANK2 46 83132 5.53337E-4 41566 0 0.00453172
4-114275497-G-T p.Gly1875Val missense ANK2 1 83112 1.2032E-5 41556 0 NA
4-114275497-G-A p.Gly1875Asp missense ANK2 1 83112 1.2032E-5 41556 0 NA
4-114275500-A-G p.Lys1876Arg missense ANK2 2 83138 2.40564E-5 41569 0 NA
4-114275505-G-A p.Asp1878Asn missense ANK2 6 83128 7.21778E-5 41564 0 1.64981E-5
4-114275511-C-T p.Arg1880Cys missense ANK2 3 83108 3.60976E-5 41554 0 3.18552E-5
4-114275528-C-T p.Pro1885Pro synonymous ANK2 1 83040 1.20424E-5 41520 0 3.98702E-6
4-114275530-C-A p.Ser1886Tyr missense ANK2 1 83014 1.20462E-5 41507 0 8.26528E-6
4-114275531-C-T p.Ser1886Ser synonymous ANK2 2 82984 2.4101E-5 41492 0 4.15E-5
4-114275532-G-A p.Gly1887Arg missense ANK2 16 83034 1.92692E-4 41517 0 6.25E-4
4-114275534-G-A p.Gly1887Gly synonymous ANK2 1 83010 1.20467E-5 41505 0 3.30814E-5
4-114275552-G-T p.Pro1893Pro synonymous ANK2 1 83222 1.20161E-5 41611 0 NA
4-114275552-G-A p.Pro1893Pro synonymous ANK2 1 83222 1.20161E-5 41611 0 8.24933E-6
4-114275558-A-C p.Val1895Val synonymous ANK2 4 83224 4.80631E-5 41612 0 6.37024E-5
4-114275572-C-T p.Thr1900Ile missense ANK2 2 83176 2.40454E-5 41588 0 NA
4-114275600-C-T p.Ser1909Ser synonymous ANK2 2 83020 2.40906E-5 41510 0 0.00125
4-114275601-G-A p.Gly1910Arg missense ANK2 1 83036 1.2043E-5 41518 0 2.78869E-5
4-114275607-A-T p.Thr1912Ser missense ANK2 4 83030 4.81754E-5 41515 0 1.64902E-4
4-114275610-G-A p.Asp1913Asn missense ANK2 1 83022 1.2045E-5 41511 0 3.18573E-5
4-114275623-C-A p.Pro1917His missense ANK2 1 82998 1.20485E-5 41499 0 NA
4-114275636-T-TG p.Lys1923fs frameshift ANK2 1 82982 1.20508E-5 41491 0 NA
4-114275680-C-T p.Thr1936Ile missense ANK2 1 82990 1.20496E-5 41495 0 8.24851E-6
4-114275696-T-C p.Pro1941Pro synonymous ANK2 1 82970 1.20525E-5 41485 0 NA
4-114275703-C-T p.Pro1944Ser missense ANK2 1 82950 1.20555E-5 41475 0 3.98819E-6
4-114275710-C-T p.Ser1946Leu missense ANK2 9 82950 1.08499E-4 41475 0 6.03316E-4
4-114275724-A-T p.Ile1951Phe missense ANK2 1 82956 1.20546E-5 41478 0 NA
4-114275727-G-A p.Glu1952Lys missense ANK2 1 82964 1.20534E-5 41482 0 NA
4-114275745-C-T p.Arg1958Trp missense ANK2 1 82950 1.20555E-5 41475 0 NA
4-114275746-G-A p.Arg1958Gln missense ANK2 1 82962 1.20537E-5 41481 0 8.26925E-6
4-114275759-G-A p.Lys1962Lys synonymous ANK2 44 82964 5.3035E-4 41482 0 9.23626E-4
4-114275768-G-T p.Gln1965His missense ANK2 1 82918 1.20601E-5 41459 0 3.18451E-5
4-114275800-G-T p.Gly1976Val missense ANK2 2 82610 2.42101E-5 41305 0 NA
4-114275807-T-C p.Phe1978Phe synonymous ANK2 2 82542 2.42301E-5 41271 0 3.32856E-5
4-114275808-G-C p.Glu1979Gln missense ANK2 2 82520 2.42365E-5 41260 0 NA
4-114275852-A-C p.Lys1993Asn missense ANK2 1 82042 1.21889E-5 41021 0 NA
4-114275857-G-A p.Arg1995Gln missense ANK2 1 81994 1.2196E-5 40997 0 8.39715E-6
4-114275858-G-T p.Arg1995Arg synonymous ANK2 4 81990 4.87864E-5 40995 0 8.45486E-5
4-114275859-G-C p.Val1996Leu missense ANK2 4 81994 4.87841E-5 40997 0 3.18634E-5
4-114275871-A-G p.Lys2000Glu missense ANK2 1 82070 1.21847E-5 41035 0 8.39616E-6
4-114275873-G-A p.Lys2000Lys synonymous ANK2 2 82076 2.43677E-5 41038 0 NA
4-114275874-G-A p.Gly2001Arg missense ANK2 1 82056 1.21868E-5 41028 0 3.18532E-5
4-114275879-G-A p.Pro2002Pro synonymous ANK2 1 82068 1.2185E-5 41034 0 5.04032E-4
4-114275881-T-C p.Ile2003Thr missense ANK2 3 82092 3.65444E-5 41046 0 NA
4-114275893-G-C p.Arg2007Thr missense ANK2 1 82222 1.21622E-5 41111 0 8.36344E-6
4-114275917-A-G p.Gln2015Arg missense ANK2 16 82602 1.937E-4 41301 0 1.2738E-4
4-114275918-G-A p.Gln2015Gln synonymous ANK2 1 82594 1.21074E-5 41297 0 3.99383E-6
4-114275921-A-T p.Thr2016Thr synonymous ANK2 1 82616 1.21042E-5 41308 0 1.19762E-5
4-114275922-A-G p.Ile2017Val missense ANK2 1 82618 1.21039E-5 41309 0 3.18451E-5
4-114275932-G-C p.Gly2020Ala missense ANK2 1 82692 1.20931E-5 41346 0 NA
4-114275942-C-G p.Leu2023Leu synonymous ANK2 5412 82698 0.0654429 41349 485 0.104622
4-114275942-CCC-GCT p.LeuPro2023LeuLeu missense ANK2 1 82754 1.2084E-5 41377 0 NA
4-114275943-C-T p.Pro2024Ser missense ANK2 2 82766 2.41645E-5 41383 0 NA
4-114275945-G-A p.Pro2024Pro synonymous ANK2 1 82784 1.20796E-5 41392 0 8.28322E-6
4-114275949-A-G p.Thr2026Ala missense ANK2 3 82814 3.62258E-5 41407 0 NA
4-114275950-C-T p.Thr2026Met missense ANK2 32 82822 3.86371E-4 41411 0 0.00375
4-114275951-G-C p.Thr2026Thr synonymous ANK2 1 82838 1.20718E-5 41419 0 3.98645E-6
4-114275951-G-A p.Thr2026Thr synonymous ANK2 2 82838 2.41435E-5 41419 0 7.97289E-6
4-114275968-A-G p.Lys2032Arg missense ANK2 2 82908 2.41231E-5 41454 0 1.195E-5
4-114275974-G-A p.Gly2034Glu missense ANK2 1 82914 1.20607E-5 41457 0 NA
4-114275979-C-T p.Arg2036Cys missense ANK2 2 82906 2.41237E-5 41453 0 6.60644E-5
4-114275980-G-A p.Arg2036His missense ANK2 86 82908 0.00103729 41454 0 0.00201816
4-114275980-G-C p.Arg2036Pro missense ANK2 1 82908 1.20616E-5 41454 0 NA
4-114275987-C-G p.Ser2038Ser synonymous ANK2 1 82924 1.20592E-5 41462 0 7.9694E-6
4-114275991-A-G p.Ile2040Val missense ANK2 3 82910 3.61838E-5 41455 0 3.30262E-5
4-114275992-T-C p.Ile2040Thr missense ANK2 1 82902 1.20624E-5 41451 0 NA
4-114276002-G-T p.Lys2043Asn missense ANK2 67 82894 8.08261E-4 41447 1 0.00101904
4-114276023-A-T p.Gly2050Gly synonymous ANK2 1 82844 1.20709E-5 41422 0 NA
4-114276045-A-G p.Lys2058Glu missense ANK2 1 82754 1.2084E-5 41377 0 NA
4-114276090-A-G p.Arg2073Gly missense ANK2 1 82492 1.21224E-5 41246 0 NA
4-114276109-A-G p.Lys2079Arg missense ANK2 2 82450 2.42571E-5 41225 0 7.98072E-6
4-114276124-A-C p.Asp2084Ala missense ANK2 1 82508 1.212E-5 41254 0 NA
4-114276125-T-G p.Asp2084Glu missense ANK2 4 82508 4.84801E-5 41254 0 3.18756E-5
4-114276126-G-A p.Glu2085Lys missense ANK2 1 82464 1.21265E-5 41232 0 3.99116E-5
4-114276139-T-C p.Met2089Thr missense ANK2 1 82556 1.2113E-5 41278 0 NA
4-114276140-G-A p.Met2089Ile missense ANK2 2 82552 2.42272E-5 41276 0 NA
4-114276149-G-A p.Gln2092Gln synonymous ANK2 1 82598 1.21068E-5 41299 0 NA
4-114276152-C-T p.Ile2093Ile synonymous ANK2 1 82620 1.21036E-5 41310 0 8.25191E-6
4-114276163-G-A p.Arg2097Lys missense ANK2 2 82690 2.41867E-5 41345 0 1.19605E-5
4-114276173-C-T p.Ser2100Ser synonymous ANK2 2 82714 2.41797E-5 41357 0 NA
4-114276206-G-A p.Leu2111Leu synonymous ANK2 6 82736 7.25198E-5 41368 0 1.99321E-5
4-114276206-G-T p.Leu2111Phe missense ANK2 1 82738 1.20863E-5 41369 0 NA
4-114276234-C-T p.Arg2121Cys missense ANK2 1 82750 1.20846E-5 41375 0 3.18532E-5
4-114276266-T-G p.Leu2131Leu synonymous ANK2 2 82736 2.41733E-5 41368 0 7.97315E-6
4-114276267-C-CTTTCTTA p.His2132fs frameshift ANK2 1 82738 1.20863E-5 41369 0 NA
4-114276275-C-T p.Asp2134Asp synonymous ANK2 1 82710 1.20904E-5 41355 0 NA
4-114276279-G-A p.Val2136Ile missense ANK2 6 82692 7.25584E-5 41346 0 9.55779E-5
4-114276285-A-G p.Thr2138Ala missense ANK2 1 82704 1.20913E-5 41352 0 NA
4-114276292-C-T p.Pro2140Leu missense ANK2 1 82694 1.20928E-5 41347 0 NA
4-114276309-C-G p.Pro2146Ala missense ANK2 1 82672 1.2096E-5 41336 0 3.98543E-6
4-114276314-C-A p.Leu2147Leu synonymous ANK2 3 82638 3.63029E-5 41319 0 1.64891E-5
4-114276321-A-G p.Met2150Val missense ANK2 2 82624 2.4206E-5 41312 0 1.6488E-5
4-114276335-C-T p.Phe2154Phe synonymous ANK2 1 82554 1.21133E-5 41277 0 3.1841E-5
4-114276355-A-T p.Gln2161Leu missense ANK2 1 82394 1.21368E-5 41197 0 NA
4-114276358-G-A p.Ser2162Asn missense ANK2 1 82358 1.21421E-5 41179 0 3.18593E-5
4-114276359-C-T p.Ser2162Ser synonymous ANK2 1 82336 1.21454E-5 41168 0 6.36983E-5
4-114276360-G-A p.Gly2163Ser missense ANK2 6 82324 7.28828E-5 41162 0 0.00100705
4-114276386-C-G p.Ser2171Arg missense ANK2 1 82150 1.21729E-5 41075 0 8.2702E-6
4-114276401-G-T p.Gly2176Gly synonymous ANK2 2 82030 2.43813E-5 41015 0 8.28061E-6
4-114276407-C-T p.Ala2178Ala synonymous ANK2 23 81986 2.80536E-4 40993 0 0.0025
4-114276408-G-A p.Gly2179Ser missense ANK2 579 81974 0.00706322 40987 11 0.0139862
4-114276415-C-T p.Pro2181Leu missense ANK2 2 81994 2.4392E-5 40997 0 2.86734E-4
4-114276416-G-A p.Pro2181Pro synonymous ANK2 1 81980 1.21981E-5 40990 0 2.48959E-5
4-114276421-G-A p.Gly2183Asp missense ANK2 1 81952 1.22023E-5 40976 0 3.18532E-5
4-114276422-C-G p.Gly2183Gly synonymous ANK2 295 81946 0.00359993 40973 1 0.003125
4-114276436-G-A p.Gly2188Glu missense ANK2 5 81938 6.10217E-5 40969 0 2.9973E-4
4-114276439-C-A p.Thr2189Asn missense ANK2 1 81944 1.22035E-5 40972 0 3.18735E-5
4-114276440-C-A p.Thr2189Thr synonymous ANK2 1 81930 1.22055E-5 40965 0 8.33111E-6
4-114276466-A-G p.Tyr2198Cys missense ANK2 1 82064 1.21856E-5 41032 0 NA
4-114276478-G-T p.Gly2202Val missense ANK2 1 82154 1.21723E-5 41077 0 NA
4-114276479-C-T p.Gly2202Gly synonymous ANK2 1 82176 1.2169E-5 41088 0 4.00307E-6
4-114276482-A-G p.Leu2203Leu synonymous ANK2 4 82248 4.86334E-5 41124 0 8.37184E-6
4-114276491-C-A p.Thr2206Thr synonymous ANK2 1 82342 1.21445E-5 41171 0 4.19435E-5
4-114276499-C-T p.Thr2209Met missense ANK2 7 82410 8.49411E-5 41205 0 5.60929E-5
4-114276500-G-A p.Thr2209Thr synonymous ANK2 11 82412 1.33476E-4 41206 0 6.25E-4
4-114276518-T-C p.Ser2215Ser synonymous ANK2 4 82514 4.84766E-5 41257 0 2.03049E-4
4-114276526-C-G p.Pro2218Arg missense ANK2 3 82470 3.63769E-5 41235 0 0.00151057
4-114276543-C-A p.Gln2224Lys missense ANK2 1 82264 1.2156E-5 41132 0 3.18593E-5
4-114276567-A-G p.Thr2232Ala missense ANK2 1 81816 1.22225E-5 40908 0 4.02152E-6
4-114276571-A-G p.Lys2233Arg missense ANK2 2 81756 2.4463E-5 40878 0 2.55198E-5
4-114276584-C-A p.Thr2237Thr synonymous ANK2 1 81444 1.22784E-5 40722 0 4.02956E-6
4-114276598-C-T p.Ser2242Leu missense ANK2 3 81182 3.6954E-5 40591 0 4.02969E-6
4-114276616-C-T