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Gene: ANKFY1

DECIPHER
Ensembl
GeneCards
HGNC
IGMDx
OMIM
RVIS


Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-4069569-G-A c.*1504C>T splice_region ANKFY1 1 36434 2.74469E-5 18217 0 NA
17-4071073-C-A p.Ter1170Tyrext*? stop_lost ANKFY1 2 80794 2.47543E-5 40397 0 NA
17-4071074-T-C p.Ter1170Trpext*? stop_lost ANKFY1 2 80818 2.4747E-5 40409 0 3.18593E-5
17-4071082-C-A p.Gly1167Gly synonymous ANKFY1 2 80856 2.47353E-5 40428 0 1.84589E-4
17-4071101-TCAAAA-T p.Cys1159fs frameshift ANKFY1 1 80958 1.23521E-5 40479 0 NA
17-4071121-C-T p.Arg1154Arg synonymous ANKFY1 4 81008 4.93778E-5 40504 0 6.37064E-5
17-4071123-G-T p.Arg1154Arg synonymous ANKFY1 1 81006 1.23448E-5 40503 0 2.80653E-5
17-4071137-A-T p.Leu1149Gln missense ANKFY1 1 80982 1.23484E-5 40491 0 NA
17-4071138-G-A p.Leu1149Leu synonymous ANKFY1 7 80986 8.64347E-5 40493 0 0.00375
17-4071150-T-C p.Ile1145Val missense ANKFY1 2 80990 2.46944E-5 40495 0 2.0042E-5
17-4071153-T-A p.Ile1144Phe missense ANKFY1 1 80994 1.23466E-5 40497 0 NA
17-4071154-A-G p.Pro1143Pro synonymous ANKFY1 2 80996 2.46926E-5 40498 0 NA
17-4071157-A-G p.Ile1142Ile synonymous ANKFY1 1 81002 1.23454E-5 40501 0 NA
17-4071169-C-T p.Ser1138Ser synonymous ANKFY1 1 80972 1.23499E-5 40486 0 6.25E-4
17-4071188-A-C p.Leu1132Arg missense ANKFY1 4 80938 4.94205E-5 40469 0 NA
17-4071196-G-A p.Cys1129Cys synonymous ANKFY1 2 80894 2.47237E-5 40447 0 8.32335E-6
17-4071444-TG-T c.*423delC splice_region ANKFY1 1 23764 4.20805E-5 11882 0 NA
17-4071445-G-T c.*423C>A splice_region ANKFY1 3 22170 1.35318E-4 11085 0 0.0180295
17-4071485-G-A c.*383C>T splice_region ANKFY1 2 5906 3.38639E-4 2953 0 6.54065E-5
17-4072484-G-A c.3377+8C>T splice_region ANKFY1 1 68180 1.46671E-5 34090 0 NA
17-4072485-G-A c.3377+7C>T splice_region ANKFY1 1 68364 1.46276E-5 34182 0 6.48963E-6
17-4072518-G-A p.Phe1117Phe synonymous ANKFY1 2 71934 2.78033E-5 35967 0 3.18451E-5
17-4072527-A-G p.Thr1114Thr synonymous ANKFY1 1 72484 1.37961E-5 36242 0 6.3782E-6
17-4072551-G-A p.Asp1106Asp synonymous ANKFY1 1 72454 1.38019E-5 36227 0 3.18613E-5
17-4072571-T-G p.Lys1100Gln missense ANKFY1 23 72040 3.19267E-4 36020 0 7.32764E-4
17-4072574-A-G p.Ser1099Pro missense ANKFY1 28 71724 3.90385E-4 35862 0 0.00187735
17-4072579-A-G p.Met1097Thr missense ANKFY1 4 71390 5.60303E-5 35695 0 6.25782E-4
17-4072589-C-A c.3287-7G>T splice_region ANKFY1 1 70416 1.42013E-5 35208 0 NA
17-4074001-C-A c.3286+8G>T splice_region ANKFY1 4 80294 4.98169E-5 40147 0 6.20226E-5
17-4074002-C-T c.3286+7G>A splice_region ANKFY1 1 80318 1.24505E-5 40159 0 NA
17-4074010-C-T p.Leu1095Leu splice_region+synonymous ANKFY1 1 80444 1.2431E-5 40222 0 4.10458E-6
17-4074018-G-A p.Arg1093* stop_gained ANKFY1 1 80506 1.24214E-5 40253 0 NA
17-4074024-G-A p.Leu1091Leu synonymous ANKFY1 2 80620 2.48077E-5 40310 0 NA
17-4074048-A-G p.Tyr1083His missense ANKFY1 7 80736 8.67023E-5 40368 0 5.61622E-5
17-4074058-G-A p.Asn1079Asn synonymous ANKFY1 1 80840 1.23701E-5 40420 0 NA
17-4074063-C-T p.Val1078Ile missense ANKFY1 3 80850 3.71058E-5 40425 0 NA
17-4074067-C-T p.Gln1076Gln synonymous ANKFY1 1 80868 1.23658E-5 40434 0 NA
17-4074085-G-A p.Leu1070Leu synonymous ANKFY1 11 80908 1.35957E-4 40454 0 0.00100705
17-4074088-G-A p.Arg1069Arg synonymous ANKFY1 5 80890 6.18123E-5 40445 0 5.03525E-4
17-4074089-C-T p.Arg1069His missense ANKFY1 14 80878 1.731E-4 40439 0 1.36337E-4
17-4074090-G-A p.Arg1069Cys missense ANKFY1 3 80876 3.70938E-5 40438 0 NA
17-4074097-C-T p.Ser1066Ser synonymous ANKFY1 3 80892 3.70865E-5 40446 0 4.97315E-5
17-4074098-G-A p.Ser1066Leu missense ANKFY1 1 80894 1.23619E-5 40447 0 1.20248E-5
17-4074101-C-T p.Arg1065Gln missense ANKFY1 1 80896 1.23616E-5 40448 0 2.4869E-5
17-4074102-G-A p.Arg1065Trp missense ANKFY1 1 80890 1.23625E-5 40445 0 NA
17-4074106-G-A p.Ile1063Ile synonymous ANKFY1 4 80890 4.94499E-5 40445 0 3.31576E-5
17-4074108-T-C p.Ile1063Val missense ANKFY1 1 80896 1.23616E-5 40448 0 4.00837E-6
17-4074111-C-T p.Ala1062Thr missense ANKFY1 2 80868 2.47317E-5 40434 0 3.18634E-5
17-4074112-G-A p.Arg1061Arg synonymous ANKFY1 164 80860 0.0020282 40430 2 0.00554387
17-4074113-C-T p.Arg1061His missense ANKFY1 1 80852 1.23683E-5 40426 0 5.80325E-5
17-4074124-G-A p.Ala1057Ala synonymous ANKFY1 40 80830 4.94866E-4 40415 0 0.00114694
17-4074127-G-A p.Asn1056Asn synonymous ANKFY1 3 80840 3.71103E-5 40420 0 1.60336E-5
17-4074138-T-C p.Met1053Val missense ANKFY1 2 80806 2.47506E-5 40403 0 9.55597E-5
17-4075852-C-T p.Thr1046Thr splice_region+synonymous ANKFY1 5 80696 6.19609E-5 40348 0 3.21445E-5
17-4075855-G-A p.Ser1045Ser synonymous ANKFY1 1 80736 1.2386E-5 40368 0 NA
17-4075861-G-A p.Asp1043Asp synonymous ANKFY1 12 80796 1.48522E-4 40398 0 1.16388E-4
17-4075869-C-T p.Asp1041Asn missense ANKFY1 1 80868 1.23658E-5 40434 0 NA
17-4075871-G-A p.Pro1040Leu missense ANKFY1 2 80870 2.4731E-5 40435 0 5.06586E-4
17-4075875-T-C p.Lys1039Glu missense ANKFY1 1 80896 1.23616E-5 40448 0 NA
17-4075951-C-G p.Leu1013Phe missense ANKFY1 1 81046 1.23387E-5 40523 0 NA
17-4075957-G-A p.His1011His synonymous ANKFY1 1 81044 1.2339E-5 40522 0 NA
17-4075966-T-G p.Ser1008Ser synonymous ANKFY1 6 81022 7.4054E-5 40511 0 1.91071E-4
17-4075974-C-T p.Gly1006Ser missense+splice_region ANKFY1 21 80972 2.59349E-4 40486 0 6.639E-5
17-4076641-G-A c.3014+8C>T splice_region ANKFY1 5 80434 6.21628E-5 40217 0 4.15614E-5
17-4076642-C-G c.3014+7G>C splice_region ANKFY1 1 80468 1.24273E-5 40234 0 NA
17-4076642-C-T c.3014+7G>A splice_region ANKFY1 1 80468 1.24273E-5 40234 0 0.00125
17-4076643-G-A c.3014+6C>T splice_region ANKFY1 2 80492 2.48472E-5 40246 0 1.66163E-5
17-4076646-C-T c.3014+3G>A splice_region ANKFY1 1 80582 1.24097E-5 40291 0 8.30261E-6
17-4076661-G-C p.Ala1001Gly missense ANKFY1 1 80774 1.23802E-5 40387 0 8.29022E-6
17-4076666-G-C p.Ala999Ala synonymous ANKFY1 2 80790 2.47555E-5 40395 0 1.59317E-4
17-4076667-G-C p.Ala999Gly missense ANKFY1 2 80798 2.47531E-5 40399 0 NA
17-4076669-G-A p.Asp998Asp synonymous ANKFY1 1265 80798 0.0156563 40399 60 0.0300115
17-4076672-C-T p.Val997Val synonymous ANKFY1 1 80844 1.23695E-5 40422 0 8.28555E-6
17-4076684-T-C p.Thr993Thr synonymous ANKFY1 2 80892 2.47243E-5 40446 0 3.18593E-5
17-4076690-G-A p.Leu991Leu synonymous ANKFY1 4 80934 4.9423E-5 40467 0 3.1841E-5
17-4076712-C-T p.Arg984Gln missense ANKFY1 7 80938 8.6486E-5 40469 0 3.18573E-5
17-4076713-G-A p.Arg984Trp missense ANKFY1 1 80922 1.23576E-5 40461 0 3.18573E-5
17-4076715-C-T p.Gly983Asp missense ANKFY1 1 80918 1.23582E-5 40459 0 NA
17-4076716-C-T p.Gly983Ser missense ANKFY1 4 80914 4.94352E-5 40457 0 6.37892E-4
17-4076717-G-A p.His982His synonymous ANKFY1 1 80922 1.23576E-5 40461 0 1.20212E-5
17-4077206-T-C p.Asn974Ser missense+splice_region ANKFY1 1 81042 1.23393E-5 40521 0 3.18512E-5
17-4077209-T-C p.Asn973Ser missense ANKFY1 1 81048 1.23384E-5 40524 0 4.02298E-6
17-4077225-C-T p.Val968Met missense ANKFY1 3 81068 3.7006E-5 40534 0 9.55353E-5
17-4077240-C-T p.Val963Met missense ANKFY1 2 81070 2.467E-5 40535 0 9.55231E-5
17-4077268-G-A p.Thr953Thr synonymous ANKFY1 1 81072 1.23347E-5 40536 0 4.00712E-6
17-4077269-G-C p.Thr953Ser missense ANKFY1 2 81076 2.46682E-5 40538 0 3.31274E-5
17-4077279-C-A p.Asp950Tyr missense ANKFY1 1 81068 1.23353E-5 40534 0 8.28185E-6
17-4077291-C-T p.Ala946Thr missense ANKFY1 6 81072 7.40083E-5 40536 0 3.31285E-5
17-4077305-G-T p.Thr941Asn missense ANKFY1 4 81062 4.93449E-5 40531 0 3.1835E-5
17-4077311-C-T p.Arg939His missense ANKFY1 3 81056 3.70115E-5 40528 0 1.60313E-5
17-4077328-G-A p.Asn933Asn synonymous ANKFY1 7 81056 8.63601E-5 40528 0 3.31846E-5
17-4077331-C-T p.Val932Val synonymous ANKFY1 1 81056 1.23371E-5 40528 0 1.20286E-5
17-4077339-C-A p.Ala930Ser missense ANKFY1 1 81028 1.23414E-5 40514 0 4.01072E-6
17-4077341-C-T p.Gly929Glu missense ANKFY1 1 81022 1.23423E-5 40511 0 9.55292E-5
17-4077352-CTGTTG-C c.2776-6_2776-2delCAACA splice_acceptor ANKFY1 2 80988 2.4695E-5 40494 0 NA
17-4077355-T-C c.2776-4A>G splice_region ANKFY1 1 80956 1.23524E-5 40478 0 NA
17-4080449-G-A p.Ala916Val missense ANKFY1 1 80664 1.23971E-5 40332 0 3.1837E-5
17-4080472-G-C p.Thr908Thr synonymous ANKFY1 1 80924 1.23573E-5 40462 0 5.82092E-5
17-4080479-T-C p.Lys906Arg missense ANKFY1 1 80946 1.23539E-5 40473 0 8.30289E-6
17-4080514-G-A p.His894His synonymous ANKFY1 17 80976 2.09939E-4 40488 0 1.58476E-4
17-4080514-G-C p.His894Gln missense ANKFY1 1 80976 1.23493E-5 40488 0 NA
17-4080553-G-C p.Asn881Lys missense ANKFY1 1 80898 1.23612E-5 40449 0 NA
17-4080600-A-C c.2599-3T>G splice_region ANKFY1 1 80620 1.24039E-5 40310 0 NA
17-4082157-C-G p.Glu865Gln missense ANKFY1 2 81018 2.46859E-5 40509 0 NA
17-4082158-A-T p.Ala864Ala synonymous ANKFY1 1 81030 1.23411E-5 40515 0 NA
17-4082162-G-C p.Ala863Gly missense ANKFY1 1 81034 1.23405E-5 40517 0 4.00734E-6
17-4082166-C-T p.Gly862Arg missense ANKFY1 5 81046 6.16934E-5 40523 0 5.03525E-4
17-4082167-G-A p.Ser861Ser synonymous ANKFY1 7 81044 8.63728E-5 40522 0 3.18492E-5
17-4082179-G-A p.Leu857Leu synonymous ANKFY1 1 81082 1.23332E-5 40541 0 NA
17-4082190-C-T p.Glu854Lys missense ANKFY1 1 81078 1.23338E-5 40539 0 8.2824E-6
17-4082190-C-A p.Glu854* stop_gained ANKFY1 2 81078 2.46676E-5 40539 0 NA
17-4082191-G-A p.Ala853Ala synonymous ANKFY1 5 81086 6.16629E-5 40543 0 9.5584E-5
17-4082197-CTTG-C p.Asn850del disruptive_inframe_deletion ANKFY1 1 81086 1.23326E-5 40543 0 3.18451E-5
17-4082204-T-C p.Asn849Ser missense ANKFY1 1 81090 1.2332E-5 40545 0 1.20201E-5
17-4082230-C-T p.Pro840Pro synonymous ANKFY1 3 81082 3.69996E-5 40541 0 9.55657E-5
17-4082252-C-T p.Arg833Gln missense ANKFY1 3 81078 3.70014E-5 40539 0 3.18532E-5
17-4082270-T-G p.Asp827Ala missense ANKFY1 2 81060 2.46731E-5 40530 0 9.55779E-5
17-4082271-C-T p.Asp827Asn missense ANKFY1 4 81062 4.93449E-5 40531 0 3.18492E-5
17-4082275-G-A p.His825His synonymous ANKFY1 1 81058 1.23368E-5 40529 0 NA
17-4082290-C-G p.Gln820His missense ANKFY1 1 81052 1.23378E-5 40526 0 NA
17-4082298-T-C p.Ile818Val missense ANKFY1 1 81048 1.23384E-5 40524 0 1.20198E-5
17-4082305-G-A p.His815His synonymous ANKFY1 1 81030 1.23411E-5 40515 0 5.03525E-4
17-4082314-G-A p.Ser812Ser synonymous ANKFY1 1 81002 1.23454E-5 40501 0 1.60276E-5
17-4082317-G-A p.Ile811Ile synonymous ANKFY1 2 80990 2.46944E-5 40495 0 5.03525E-4
17-4082325-C-T p.Val809Met missense ANKFY1 1 80970 1.23503E-5 40485 0 9.55779E-5
17-4082326-G-A p.His808His synonymous ANKFY1 1 80968 1.23506E-5 40484 0 6.36862E-5
17-4082335-G-C p.Thr805Thr synonymous ANKFY1 3 80924 3.70718E-5 40462 0 8.29958E-6
17-4082344-T-C p.Glu802Glu synonymous ANKFY1 2 80870 2.4731E-5 40435 0 NA
17-4083008-C-T c.2397+8G>A splice_region ANKFY1 111 81060 0.00136936 40530 1 0.00254874
17-4083017-T-C p.Gln799Arg missense+splice_region ANKFY1 1 81074 1.23344E-5 40537 0 8.02401E-6
17-4083018-G-C p.Gln799Glu missense+splice_region ANKFY1 1 81078 1.23338E-5 40539 0 4.0113E-6
17-4083019-T-C p.Ala798Ala synonymous ANKFY1 1 81078 1.23338E-5 40539 0 NA
17-4083021-C-T p.Ala798Thr missense ANKFY1 2 81074 2.46688E-5 40537 0 1.60462E-5
17-4083022-G-A p.Asn797Asn synonymous ANKFY1 1 81070 1.2335E-5 40535 0 3.18573E-5
17-4083027-C-T p.Val796Met missense ANKFY1 1 81072 1.23347E-5 40536 0 1.60386E-5
17-4083028-G-A p.Asn795Asn synonymous ANKFY1 2 81070 2.467E-5 40535 0 4.41002E-5
17-4083048-G-A p.Leu789Phe missense ANKFY1 1 81082 1.23332E-5 40541 0 NA
17-4083051-A-G p.Cys788Arg missense ANKFY1 1 81076 1.23341E-5 40538 0 1.65653E-5
17-4083077-G-A p.Ser779Phe missense ANKFY1 1 81074 1.23344E-5 40537 0 NA
17-4083079-G-A p.Ala778Ala synonymous ANKFY1 4 81078 4.93352E-5 40539 0 3.3123E-5
17-4083098-G-T p.Thr772Asn missense ANKFY1 1 81066 1.23356E-5 40533 0 1.6561E-5
17-4083113-G-T p.Ala767Asp missense ANKFY1 2 81068 2.46706E-5 40534 0 NA
17-4083125-CCTT-C p.Glu762del disruptive_inframe_deletion ANKFY1 1 81066 1.23356E-5 40533 0 2.48418E-5
17-4083127-T-C p.Glu762Glu synonymous ANKFY1 39 81058 4.81137E-4 40529 0 4.47161E-4
17-4083130-T-C p.Gly761Gly synonymous ANKFY1 1 81066 1.23356E-5 40533 0 NA
17-4083134-T-C p.Asn760Ser missense ANKFY1 5 81062 6.16812E-5 40531 0 1.32224E-4
17-4083141-C-T p.Gly758Ser missense ANKFY1 1 81058 1.23368E-5 40529 0 NA
17-4083146-T-C p.Gln756Arg missense ANKFY1 1 81054 1.23375E-5 40527 0 NA
17-4083163-G-A p.Asp750Asp synonymous ANKFY1 42 81038 5.18275E-4 40519 0 3.31301E-4
17-4083180-G-C c.2241-8C>G splice_region ANKFY1 1 81010 1.23442E-5 40505 0 NA
17-4084322-T-G n.464A>C splice_region ANKFY1 1 45042 2.22015E-5 22521 0 NA
17-4084544-C-G c.2240+5G>C splice_region ANKFY1 1 80886 1.23631E-5 40443 0 8.32875E-6
17-4084552-C-T p.Arg746His missense ANKFY1 2 80934 2.47115E-5 40467 0 0.00125
17-4084568-C-T p.Ala741Thr missense ANKFY1 3 80984 3.70444E-5 40492 0 NA
17-4084578-G-A p.Asn737Asn synonymous ANKFY1 1 81014 1.23435E-5 40507 0 4.97901E-5
17-4084579-T-C p.Asn737Ser missense ANKFY1 1 81008 1.23445E-5 40504 0 8.29738E-6
17-4084602-C-T p.Leu729Leu synonymous ANKFY1 1 81020 1.23426E-5 40510 0 NA
17-4084606-A-T p.Leu728His missense ANKFY1 1 81014 1.23435E-5 40507 0 NA
17-4084608-C-T p.Thr727Thr synonymous ANKFY1 164 81012 0.00202439 40506 3 0.0065036
17-4084609-G-A p.Thr727Met missense ANKFY1 6 81016 7.40594E-5 40508 0 5.03525E-4
17-4084622-C-T p.Gly723Arg missense ANKFY1 10 81002 1.23454E-4 40501 0 6.36902E-5
17-4084630-C-G p.Gly720Ala missense ANKFY1 1 80994 1.23466E-5 40497 0 NA
17-4084632-C-T p.Pro719Pro synonymous ANKFY1 1 80984 1.23481E-5 40492 0 1.20217E-5
17-4084633-G-A p.Pro719Leu missense ANKFY1 4 80984 4.93925E-5 40492 0 0.00151057
17-4084644-T-G p.Thr715Thr synonymous ANKFY1 11 80966 1.3586E-4 40483 0 1.59195E-4
17-4084654-C-G p.Cys712Ser missense ANKFY1 2 80944 2.47084E-5 40472 0 NA
17-4084660-T-C p.His710Arg missense ANKFY1 2 80894 2.47237E-5 40447 0 1.60323E-5
17-4084673-GAA-G c.2122-8_2122-7delTT splice_region ANKFY1 1 80746 1.23845E-5 40373 0 NA
17-4085473-C-G c.2121+3G>C splice_region ANKFY1 6 78400 7.65306E-5 39200 1 NA
17-4085499-G-T p.Leu700Met missense ANKFY1 5 79786 6.26676E-5 39893 0 3.4623E-5
17-4085505-T-G p.Asn698His missense ANKFY1 2 79956 2.50138E-5 39978 0 8.60274E-6
17-4085506-T-C p.Ala697Ala synonymous ANKFY1 1 79952 1.25075E-5 39976 0 NA
17-4085511-A-G p.Leu696Leu synonymous ANKFY1 1 80174 1.24729E-5 40087 0 NA
17-4085524-C-T p.Pro691Pro synonymous ANKFY1 1 80310 1.24517E-5 40155 0 9.55353E-5
17-4085525-G-A p.Pro691Leu missense ANKFY1 2 80338 2.48948E-5 40169 0 1.50847E-4
17-4085527-G-A p.Pro690Pro synonymous ANKFY1 1 80342 1.24468E-5 40171 0 2.50916E-5
17-4085528-G-A p.Pro690Leu missense ANKFY1 6 80370 7.46547E-5 40185 0 0.00151057
17-4085553-A-C p.Ser682Ala missense ANKFY1 4 80682 4.95774E-5 40341 0 3.1841E-5
17-4085555-A-G p.Met681Thr missense ANKFY1 1 80688 1.23934E-5 40344 0 NA
17-4085557-G-A p.Asp680Asp synonymous ANKFY1 1 80696 1.23922E-5 40348 0 NA
17-4085567-C-T p.Arg677Gln missense ANKFY1 38 80734 4.70681E-4 40367 0 5.03525E-4
17-4085593-T-C p.Pro668Pro synonymous ANKFY1 2 80628 2.48053E-5 40314 0 2.49302E-5
17-4085607-T-G p.Arg664Arg synonymous ANKFY1 3 80574 3.72329E-5 40287 0 NA
17-4085632-C-A p.Gly655Gly synonymous ANKFY1 4 80168 4.98952E-5 40084 0 2.94486E-5
17-4085638-C-A p.Gln653His missense ANKFY1 14 80098 1.74786E-4 40049 0 2.22887E-4
17-4086689-C-T c.1952+4G>A splice_region ANKFY1 9 80990 1.11125E-4 40495 0 6.36821E-5
17-4086730-G-C p.Leu639Val missense ANKFY1 1 80942 1.23545E-5 40471 0 NA
17-4086731-T-C p.Ala638Ala synonymous ANKFY1 2 80938 2.47103E-5 40469 0 NA
17-4086733-C-T p.Ala638Thr missense ANKFY1 1 80926 1.2357E-5 40463 0 5.21184E-5
17-4086734-G-A p.Ser637Ser synonymous ANKFY1 1 80914 1.23588E-5 40457 0 3.18552E-5
17-4086763-T-C p.Met628Val missense ANKFY1 1 80870 1.23655E-5 40435 0 5.03525E-4
17-4086774-G-A p.Thr624Met missense ANKFY1 3 80776 3.71397E-5 40388 0 2.48653E-5
17-4086784-C-T p.Asp621Asn missense ANKFY1 1 80706 1.23907E-5 40353 0 5.03525E-4
17-4086785-C-T p.Ser620Ser synonymous ANKFY1 13 80704 1.61082E-4 40352 0 4.14449E-5
17-4086786-G-A p.Ser620Leu missense ANKFY1 1 80668 1.23965E-5 40334 0 8.01693E-6
17-4086789-A-G p.Met619Thr missense ANKFY1 1 80678 1.2395E-5 40339 0 8.28885E-6
17-4086790-T-C p.Met619Val missense ANKFY1 3 80668 3.71895E-5 40334 0 4.00808E-6
17-4086796-CATT-C p.Asn616del conservative_inframe_deletion ANKFY1 1 80646 1.23999E-5 40323 0 8.29132E-6
17-4086798-T-A p.Asn616Ile missense ANKFY1 1 80624 1.24033E-5 40312 0 NA
17-4086805-C-T p.Ala614Thr missense ANKFY1 4 80506 4.96857E-5 40253 0 0.0020141
17-4086809-T-G p.Gly612Gly synonymous ANKFY1 2 80408 2.48731E-5 40204 0 NA
17-4086827-G-C p.Ala606Ala synonymous ANKFY1 1 80162 1.24747E-5 40081 0 NA
17-4086829-C-T p.Ala606Thr missense ANKFY1 3 80108 3.74494E-5 40054 0 8.02929E-6
17-4086833-G-A p.Ile604Ile synonymous ANKFY1 2 80028 2.49913E-5 40014 0 3.32353E-5
17-4086836-C-T p.Thr603Thr synonymous ANKFY1 80 79948 0.00100065 39974 2 0.00564617
17-4086838-T-C p.Thr603Ala missense ANKFY1 1 79856 1.25225E-5 39928 0 1.41306E-4
17-4086843-A-G p.Met601Thr missense ANKFY1 1 79792 1.25326E-5 39896 0 1.20618E-5
17-4086846-C-CCAGTCCATAATGCCAGGCCCAGCACAGT c.1799-1_1799insACTGTGCTGGGCCTGGCATTATGGACTG splice_acceptor ANKFY1 1 79690 1.25486E-5 39845 0 NA
17-4087101-C-A c.1798+6G>T splice_region ANKFY1 1 80882 1.23637E-5 40441 0 NA
17-4087102-C-T c.1798+5G>A splice_region ANKFY1 1 80886 1.23631E-5 40443 0 8.28981E-6
17-4087113-A-G p.Trp598Arg missense ANKFY1 2 80920 2.47158E-5 40460 0 5.41401E-4
17-4087116-A-G p.Leu597Leu synonymous ANKFY1 4 80914 4.94352E-5 40457 0 8.28363E-6
17-4087130-A-G p.Val592Ala missense ANKFY1 2 80940 2.47097E-5 40470 0 5.79739E-5
17-4087135-C-G p.Gln590His missense ANKFY1 1 80964 1.23512E-5 40482 0 1.202E-5
17-4087142-C-T p.Arg588Gln missense ANKFY1 2 80978 2.46981E-5 40489 0 3.18431E-5
17-4087144-G-A p.Ser587Ser synonymous ANKFY1 4 80984 4.93925E-5 40492 0 8.0134E-6
17-4087164-C-T p.Asp581Asn missense ANKFY1 1 80952 1.2353E-5 40476 0 NA
17-4087166-G-A p.Pro580Leu missense ANKFY1 1 80938 1.23551E-5 40469 0 2.00335E-5
17-4087187-G-A p.Thr573Ile missense ANKFY1 4 80868 4.94633E-5 40434 0 5.79643E-5
17-4087193-T-C p.His571Arg missense ANKFY1 6 80808 7.42501E-5 40404 0 6.36902E-5
17-4087197-G-A p.Leu570Phe missense ANKFY1 1 80784 1.23787E-5 40392 0 NA
17-4087202-T-C p.Asn568Ser missense ANKFY1 4 80708 4.95614E-5 40354 0 6.37064E-5
17-4087207-T-TTTCTGCTCCAGGATGACAGACACC c.1700-3_1700-2insGGTGTCTGTCATCCTGGAGCAGAA splice_region ANKFY1 1 80626 1.24029E-5 40313 0 NA
17-4087207-T-TTTCTGCTCCAGGATGACAGAC c.1700-3_1700-2insGTCTGTCATCCTGGAGCAGAA splice_region ANKFY1 2 80626 2.48059E-5 40313 1 NA
17-4088107-A-G c.1699+6T>C splice_region ANKFY1 1 80904 1.23603E-5 40452 0 3.31796E-5
17-4088129-G-A p.Val561Val synonymous ANKFY1 2 80992 2.46938E-5 40496 0 NA
17-4088130-A-G p.Val561Ala missense ANKFY1 1 80984 1.23481E-5 40492 0 4.01765E-6
17-4088144-C-T p.Pro556Pro synonymous ANKFY1 2 81030 2.46822E-5 40515 0 6.37024E-5
17-4088145-G-A p.Pro556Leu missense ANKFY1 2 81042 2.46786E-5 40521 0 NA
17-4088147-A-C p.His555Gln missense ANKFY1 44 81036 5.42969E-4 40518 0 6.69003E-4
17-4088154-T-C p.Tyr553Cys missense ANKFY1 1 81040 1.23396E-5 40520 0 1.65678E-5
17-4088158-C-T p.Ala552Thr missense ANKFY1 1 81034 1.23405E-5 40517 0 6.36943E-5
17-4088159-G-A n.430C>T splice_region ANKFY1 2 81036 2.46804E-5 40518 0 2.48505E-5
17-4088162-C-T p.Ala550Ala synonymous ANKFY1 2 81040 2.46792E-5 40520 0 1.65664E-5
17-4088191-C-T p.Val541Ile missense ANKFY1 2 81032 2.46816E-5 40516 0 4.00946E-6
17-4088194-T-C p.Ser540Gly missense ANKFY1 5 81028 6.17071E-5 40514 0 5.03525E-4
17-4088208-G-C p.Thr535Ser missense ANKFY1 6 81006 7.40686E-5 40503 0 6.25E-4
17-4088210-C-G p.Leu534Leu synonymous ANKFY1 1 81006 1.23448E-5 40503 0 NA
17-4088216-T-C p.Ala532Ala synonymous ANKFY1 1 80984 1.23481E-5 40492 0 NA
17-4088218-C-T p.Ala532Thr missense ANKFY1 2 80974 2.46993E-5 40487 0 2.00489E-5
17-4088227-T-C p.Lys529Glu missense ANKFY1 1 80966 1.23509E-5 40483 0 NA
17-4088242-C-T p.Ala524Thr missense ANKFY1 4 80944 4.94169E-5 40472 0 4.14134E-5
17-4088249-C-T p.Thr521Thr synonymous ANKFY1 5 80938 6.17757E-5 40469 0 3.18492E-5
17-4088250-G-A p.Thr521Met missense ANKFY1 6 80930 7.41381E-5 40465 0 1.49091E-4
17-4088260-T-C p.Asn518Asp missense ANKFY1 2 80920 2.47158E-5 40460 0 4.00962E-6
17-4088263-G-C p.Pro517Ala missense ANKFY1 1 80900 1.23609E-5 40450 0 NA
17-4088270-G-A p.Gly514Gly synonymous ANKFY1 1 80880 1.2364E-5 40440 0 5.03525E-4
17-4088282-G-A p.Leu510Leu synonymous ANKFY1 1 80840 1.23701E-5 40420 0 8.28391E-6
17-4088285-C-G p.Glu509Asp missense ANKFY1 3 80850 3.71058E-5 40425 0 NA
17-4088291-C-T p.Thr507Thr synonymous ANKFY1 67330 78830 0.854116 39415 29356 0.870625
17-4088310-T-C p.His501Arg missense ANKFY1 2 80758 2.47653E-5 40379 0 4.01655E-6
17-4088312-C-T p.Arg500Arg synonymous ANKFY1 3 80744 3.71545E-5 40372 0 3.18431E-5
17-4088313-C-T p.Arg500Gln missense ANKFY1 4 80736 4.95442E-5 40368 0 3.61704E-5
17-4088314-G-A p.Arg500Trp missense ANKFY1 1 80716 1.23891E-5 40358 0 NA
17-4088318-C-T c.-151G>A 5_prime_UTR_premature_start_codon_gain ANKFY1 5 80672 6.19794E-5 40336 0 1.27372E-4
17-4088346-A-G c.1471-5T>C splice_region ANKFY1 1 80130 1.24797E-5 40065 0 NA
17-4090183-C-A c.-175+6G>T splice_region ANKFY1 2 22140 9.03342E-5 11070 0 1.59175E-4
17-4090308-T-C c.-294A>G 5_prime_UTR_premature_start_codon_gain ANKFY1 105 22216 0.00472632 11108 0 0.00379222
17-4090348-C-T c.-334G>A 5_prime_UTR_premature_start_codon_gain ANKFY1 39 22362 0.00174403 11181 0 0.00328151
17-4090362-G-A c.-348C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 1 22174 4.50979E-5 11087 0 9.56389E-5
17-4090391-G-A c.-377C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 7 21092 3.31879E-4 10546 0 1.59591E-4
17-4092667-TCA-T c.1470+8_1470+9delTG splice_region ANKFY1 1 79574 1.25669E-5 39787 0 5.32464E-6
17-4092688-T-C p.Arg487Gly missense ANKFY1 1 79698 1.25474E-5 39849 0 NA
17-4092697-C-CA p.Val484fs frameshift ANKFY1 1 79718 1.25442E-5 39859 0 NA
17-4092700-G-A p.His483Tyr missense ANKFY1 2 79736 2.50828E-5 39868 0 9.48479E-6
17-4092703-C-T p.Ala482Thr missense ANKFY1 2 79734 2.50834E-5 39867 0 NA
17-4092704-A-G p.Gly481Gly synonymous ANKFY1 2 79700 2.50941E-5 39850 0 3.1841E-5
17-4092707-G-A p.Asn480Asn synonymous ANKFY1 3 79754 3.76157E-5 39877 0 NA
17-4092708-T-C p.Asn480Ser missense ANKFY1 9 79748 1.12855E-4 39874 0 4.2964E-4
17-4092710-G-T p.Thr479Thr synonymous ANKFY1 2 79772 2.50715E-5 39886 0 4.62989E-6
17-4092741-C-T p.Gly469Glu missense ANKFY1 1 79698 1.25474E-5 39849 0 2.48509E-5
17-4092744-G-A p.Ala468Val missense ANKFY1 1 79678 1.25505E-5 39839 0 NA
17-4092748-C-G p.Gly467Arg missense ANKFY1 3 79692 3.76449E-5 39846 0 9.57992E-6
17-4092756-C-T p.Arg464Gln missense ANKFY1 2 79588 2.51294E-5 39794 0 6.3678E-5
17-4092757-G-A p.Arg464Trp missense ANKFY1 2 79552 2.51408E-5 39776 0 2.6266E-5
17-4092772-T-C p.Asn459Asp missense+splice_region ANKFY1 1 79272 1.26148E-5 39636 0 NA
17-4097774-TGGTCAAG-T c.*400_*406delCTTGACC splice_region ANKFY1 11 2544 0.0043239 1272 0 0.00113676
17-4098194-T-C p.Lys484Arg missense ANKFY1 1 79962 1.25059E-5 39981 0 NA
17-4098205-G-C p.Cys480Trp missense ANKFY1 3 80240 3.73878E-5 40120 0 NA
17-4098205-G-A p.Cys480Cys synonymous ANKFY1 1 80240 1.24626E-5 40120 0 NA
17-4098212-C-G p.Cys478Ser missense ANKFY1 1 80460 1.24285E-5 40230 0 NA
17-4098228-G-A p.Arg473Cys missense ANKFY1 1 80642 1.24005E-5 40321 0 0.00100806
17-4098244-G-A p.Asp467Asp synonymous ANKFY1 2 80804 2.47513E-5 40402 0 6.25E-4
17-4098246-C-T p.Asp467Asn missense ANKFY1 4 80816 4.94951E-5 40408 0 8.14214E-5
17-4098247-G-A p.Gly466Gly synonymous ANKFY1 7 80828 8.66036E-5 40414 0 1.59185E-4
17-4098254-C-T p.Arg464Gln missense ANKFY1 8 80850 9.89487E-5 40425 0 7.7228E-5
17-4098259-G-T p.Ala462Ala synonymous ANKFY1 1 80884 1.23634E-5 40442 0 NA
17-4098263-C-G p.Arg461Pro missense ANKFY1 2 80902 2.47213E-5 40451 0 1.27332E-4
17-4098263-C-A p.Arg461Leu missense ANKFY1 1 80902 1.23606E-5 40451 0 4.01162E-6
17-4098264-G-A p.Arg461Cys missense ANKFY1 7 80904 8.65223E-5 40452 0 1.59185E-4
17-4098277-C-A p.Ala456Ala synonymous ANKFY1 1 80958 1.23521E-5 40479 0 NA
17-4098277-C-T p.Ala456Ala synonymous ANKFY1 2 80958 2.47042E-5 40479 0 3.1841E-5
17-4098278-G-A p.Ala456Val missense ANKFY1 2 80962 2.47029E-5 40481 0 3.1839E-5
17-4098279-C-T p.Ala456Thr missense ANKFY1 1 80960 1.23518E-5 40480 0 NA
17-4098280-C-T p.Thr455Thr synonymous ANKFY1 2 80968 2.47011E-5 40484 0 9.99334E-5
17-4098281-G-A p.Thr455Met missense ANKFY1 5 80976 6.17467E-5 40488 0 3.60791E-5
17-4098282-T-C p.Thr455Ala missense ANKFY1 4 80982 4.93937E-5 40491 0 3.20685E-5
17-4098307-G-A p.Arg446Arg synonymous ANKFY1 2 81016 2.46865E-5 40508 0 6.36902E-5
17-4098308-C-T p.Arg446His missense ANKFY1 1 81028 1.23414E-5 40514 0 9.55231E-5
17-4098309-G-A p.Arg446Cys missense ANKFY1 3 81018 3.70288E-5 40509 0 1.27356E-4
17-4098325-T-G p.Ala440Ala synonymous ANKFY1 9 81056 1.11034E-4 40528 0 1.6589E-5
17-4098340-A-T p.Asp435Glu missense ANKFY1 1 81064 1.23359E-5 40532 0 NA
17-4098347-G-A p.Ser433Leu missense ANKFY1 2 81062 2.46725E-5 40531 0 1.2021E-5
17-4098348-A-C p.Ser433Ala missense ANKFY1 5 81062 6.16812E-5 40531 0 8.2894E-6
17-4098363-C-T p.Val428Met missense ANKFY1 3 81054 3.70124E-5 40527 0 6.37105E-5
17-4098364-G-A p.Pro427Pro synonymous ANKFY1 6 81056 7.40229E-5 40528 0 1.59276E-4
17-4098375-C-T p.Glu424Lys missense ANKFY1 1 81042 1.23393E-5 40521 0 NA
17-4098382-G-T p.Asn421Lys missense ANKFY1 1 81036 1.23402E-5 40518 0 NA
17-4098390-A-G p.Ser419Pro missense ANKFY1 1 81038 1.23399E-5 40519 0 4.00689E-6
17-4098392-T-G p.Gln418Pro missense ANKFY1 1 81042 1.23393E-5 40521 0 NA
17-4098396-C-A p.Asp417Tyr missense ANKFY1 2 81036 2.46804E-5 40518 0 8.28789E-6
17-4098405-C-T p.Val414Met missense ANKFY1 7 81014 8.64048E-5 40507 0 6.37064E-5
17-4098419-A-G p.Val409Ala missense ANKFY1 1 81022 1.23423E-5 40511 0 3.18512E-5
17-4098448-G-A p.His399His synonymous ANKFY1 1 80972 1.23499E-5 40486 0 1.24995E-4
17-4098466-A-G p.Asp393Asp synonymous ANKFY1 1 80870 1.23655E-5 40435 0 8.56355E-6
17-4098466-A-C p.Asp393Glu missense ANKFY1 2 80870 2.4731E-5 40435 0 1.71271E-5
17-4098694-G-A c.1172+4C>T splice_region ANKFY1 16 81056 1.97394E-4 40528 0 7.01173E-4
17-4098709-C-T p.Leu387Leu synonymous ANKFY1 2 81070 2.467E-5 40535 0 3.18512E-5
17-4098712-C-T p.Leu386Leu synonymous ANKFY1 1 81070 1.2335E-5 40535 0 NA
17-4098727-A-G p.Tyr381Tyr synonymous ANKFY1 8 81072 9.86777E-5 40536 0 1.91156E-4
17-4098738-C-T p.Gly378Arg missense ANKFY1 1 81048 1.23384E-5 40524 0 3.18695E-5
17-4098745-G-A p.Ile375Ile synonymous ANKFY1 1 81040 1.23396E-5 40520 0 3.18613E-5
17-4098747-T-C p.Ile375Val missense ANKFY1 314 81028 0.0038752 40514 1 0.00414356
17-4098747-T-G p.Ile375Leu missense ANKFY1 1 81036 1.23402E-5 40518 0 3.18735E-5
17-4098748-G-A p.Ser374Ser synonymous ANKFY1 43 81032 5.30655E-4 40516 0 0.00128624
17-4098754-A-G p.His372His synonymous ANKFY1 1 81028 1.23414E-5 40514 0 3.60643E-5
17-4098765-T-TCCTCCCCTTGCTGTCCTGCATGTTGGGGTTGGCACCAG p.Thr369fs frameshift ANKFY1 1 80996 1.23463E-5 40498 0 NA
17-4098768-T-TCCCCTTGCTGTCCTGCATGTTGGGGTTGGCACCA c.1104-3_1104-2insTGGTGCCAACCCCAACATGCAGGACAGCAAGGGG splice_region ANKFY1 1 80988 1.23475E-5 40494 0 NA
17-4098771-G-A c.1104-5C>T splice_region ANKFY1 13 80930 1.60633E-4 40465 0 2.86935E-4
17-4100669-T-A p.Arg368Trp missense+splice_region ANKFY1 2 80584 2.48188E-5 40292 0 8.28775E-6
17-4100693-G-A p.Pro360Ser missense ANKFY1 1 80954 1.23527E-5 40477 0 NA
17-4100717-C-T p.Ala352Thr missense ANKFY1 1 81014 1.23435E-5 40507 0 4.00692E-6
17-4100730-C-T p.Ala347Ala synonymous ANKFY1 1 81028 1.23414E-5 40514 0 1.20209E-5
17-4100731-G-A p.Ala347Val missense ANKFY1 2 81024 2.4684E-5 40512 0 4.00708E-6
17-4100743-A-T p.Met343Lys missense ANKFY1 1 81046 1.23387E-5 40523 0 8.01359E-6
17-4100743-A-G p.Met343Thr missense ANKFY1 2 81046 2.46773E-5 40523 0 1.20204E-5
17-4100749-T-C p.Asp341Gly missense ANKFY1 2 81054 2.46749E-5 40527 0 8.01372E-6
17-4100771-T-G p.Ser334Arg missense ANKFY1 1 81070 1.2335E-5 40535 0 NA
17-4100775-C-T p.Leu332Leu synonymous ANKFY1 1 81064 1.23359E-5 40532 0 NA
17-4100795-G-C p.Pro326Ala missense ANKFY1 1 81064 1.23359E-5 40532 0 NA
17-4100801-C-T p.Glu324Lys missense ANKFY1 1 81068 1.23353E-5 40534 0 1.60278E-5
17-4100818-G-A p.Ala318Val missense ANKFY1 1 81060 1.23365E-5 40530 0 NA
17-4100823-G-A p.Asn316Asn synonymous ANKFY1 1 81066 1.23356E-5 40533 0 1.66055E-5
17-4100824-T-C p.Asn316Ser missense ANKFY1 2 81068 2.46706E-5 40534 0 3.32071E-5
17-4100824-T-A p.Asn316Ile missense ANKFY1 1 81068 1.23353E-5 40534 0 NA
17-4100826-G-C p.Val315Val synonymous ANKFY1 1 81064 1.23359E-5 40532 0 NA
17-4100846-T-C p.Ile309Val missense ANKFY1 1 81048 1.23384E-5 40524 0 NA
17-4100858-C-G p.Ala305Pro missense ANKFY1 3 81016 3.70297E-5 40508 0 6.36943E-5
17-4100869-T-C p.Asp301Gly missense ANKFY1 1 80990 1.23472E-5 40495 0 NA
17-4100869-TCTC-T p.Gly300del disruptive_inframe_deletion ANKFY1 1 80990 1.23472E-5 40495 0 4.01771E-6
17-4100871-T-G p.Gly300Gly splice_region+synonymous ANKFY1 3 80974 3.70489E-5 40487 0 NA
17-4100871-T-C p.Gly300Gly splice_region+synonymous ANKFY1 1 80974 1.23496E-5 40487 0 NA
17-4109638-C-A p.Leu292Phe missense ANKFY1 1 81080 1.23335E-5 40540 0 NA
17-4109656-G-A p.Asp286Asp synonymous ANKFY1 2 81094 2.46627E-5 40547 0 NA
17-4109659-C-T p.Val285Val synonymous ANKFY1 4 81096 4.93243E-5 40548 0 9.5511E-5
17-4109665-G-A p.Asp283Asp synonymous ANKFY1 1 81094 1.23314E-5 40547 0 NA
17-4109686-A-G p.Val276Val synonymous ANKFY1 11 81096 1.35642E-4 40548 0 0.00100705
17-4109694-T-C p.Thr274Ala missense ANKFY1 1 81096 1.23311E-5 40548 0 NA
17-4109714-C-T p.Arg267Gln missense ANKFY1 1 81094 1.23314E-5 40547 0 1.65637E-5
17-4109718-G-T p.Arg266Arg synonymous ANKFY1 44 81092 5.42594E-4 40546 0 5.03525E-4
17-4109722-G-A p.Leu264Leu synonymous ANKFY1 4608 81038 0.0568622 40519 417 0.0943474
17-4109724-G-A p.Leu264Phe missense ANKFY1 1 81096 1.23311E-5 40548 0 NA
17-4109728-T-G p.Leu262Leu synonymous ANKFY1 6 81090 7.39919E-5 40545 0 6.36902E-5
17-4109737-T-C p.Ala259Ala synonymous ANKFY1 6 81092 7.399E-5 40546 0 0.003125
17-4109742-G-A p.Leu258Leu synonymous ANKFY1 3 81096 3.69932E-5 40548 0 8.01417E-6
17-4109748-C-T p.Gly256Arg missense ANKFY1 1 81080 1.23335E-5 40540 0 5.03525E-4
17-4109749-G-A p.Asn255Asn synonymous ANKFY1 1 81080 1.23335E-5 40540 0 1.65689E-5
17-4109754-G-A p.His254Tyr missense ANKFY1 1 81078 1.23338E-5 40539 0 NA
17-4109758-C-T p.Ala252Ala synonymous ANKFY1 3 81072 3.70041E-5 40536 0 8.28528E-6
17-4109759-G-A p.Ala252Val missense ANKFY1 2 81072 2.46694E-5 40536 0 9.55657E-5
17-4109761-T-A p.Glu251Asp missense ANKFY1 15 81074 1.85016E-4 40537 0 8.0179E-5
17-4109765-T-C p.Asn250Ser missense ANKFY1 1 81078 1.23338E-5 40539 0 8.28775E-6
17-4109776-A-G p.Pro246Pro synonymous ANKFY1 7 81058 8.63579E-5 40529 0 8.02021E-5
17-4109778-G-A p.Pro246Ser missense ANKFY1 1 81046 1.23387E-5 40523 0 NA
17-4109784-A-G c.733-3T>C splice_region ANKFY1 9 81030 1.1107E-4 40515 0 9.12545E-5
17-4109787-C-T c.733-6G>A splice_region ANKFY1 2 81026 2.46834E-5 40513 0 1.20555E-5
17-4111244-A-G p.Ile239Thr missense ANKFY1 1 80446 1.24307E-5 40223 0 NA
17-4111246-C-A p.Leu238Leu synonymous ANKFY1 1 80432 1.24329E-5 40216 0 NA
17-4111252-C-T p.Leu236Leu synonymous ANKFY1 1 80698 1.23919E-5 40349 0 4.149E-6
17-4111263-C-A p.Val233Leu missense ANKFY1 1 80768 1.23811E-5 40384 0 NA
17-4111264-G-A p.Asp232Asp synonymous ANKFY1 3 80776 3.71397E-5 40388 0 1.66681E-5
17-4111274-T-A p.Glu229Val missense ANKFY1 1 80814 1.23741E-5 40407 0 NA
17-4111298-G-A p.Pro221Leu missense ANKFY1 4 80840 4.94805E-5 40420 0 8.10991E-6
17-4111300-G-A p.Tyr220Tyr synonymous ANKFY1 1 80842 1.23698E-5 40421 0 4.05321E-6
17-4111325-T-C p.Lys212Arg missense ANKFY1 13 80800 1.60891E-4 40400 0 2.54728E-4
17-4111327-G-A p.Tyr211Tyr synonymous ANKFY1 1 80790 1.23778E-5 40395 0 8.30427E-6
17-4111332-A-G p.Leu210Leu synonymous ANKFY1 3 80740 3.71563E-5 40370 0 3.32364E-5
17-4111373-T-C p.Asp196Gly missense ANKFY1 1 80442 1.24313E-5 40221 0 NA
17-4113112-C-T c.582+7G>A splice_region ANKFY1 20 80998 2.4692E-4 40499 0 0.00101455
17-4113146-G-A p.Tyr185Tyr synonymous ANKFY1 3 81052 3.70133E-5 40526 0 1.2738E-4
17-4113150-T-C p.Asn184Ser missense ANKFY1 15 81052 1.85066E-4 40526 0 3.50318E-4
17-4113158-T-C p.Thr181Thr synonymous ANKFY1 6 81044 7.40339E-5 40522 0 NA
17-4113182-C-T p.Thr173Thr synonymous ANKFY1 1 81034 1.23405E-5 40517 0 8.28363E-6
17-4113191-G-A p.Phe170Phe synonymous ANKFY1 2 81010 2.46883E-5 40505 0 8.28528E-6
17-4113196-G-A p.Arg169Cys missense ANKFY1 1 80996 1.23463E-5 40498 0 2.00428E-5
17-4113204-T-C p.Asn166Ser missense ANKFY1 5 80986 6.17391E-5 40493 0 8.2894E-6
17-4113214-T-A p.Asn163Tyr missense ANKFY1 1 80940 1.23548E-5 40470 0 NA
17-4113217-C-T p.Val162Met missense ANKFY1 3 80928 3.707E-5 40464 0 5.03525E-4
17-4113220-G-A p.Leu161Leu synonymous ANKFY1 1 80922 1.23576E-5 40461 0 8.01892E-6
17-4113223-A-T p.Ser160Thr missense ANKFY1 1 80886 1.23631E-5 40443 0 NA
17-4113226-T-G p.Met159Leu missense ANKFY1 1 80882 1.23637E-5 40441 0 3.18431E-5
17-4120271-G-C c.458+7C>G splice_region ANKFY1 2 80924 2.47145E-5 40462 0 NA
17-4120285-T-C p.Arg151Gly missense ANKFY1 1 80962 1.23515E-5 40481 0 NA
17-4120305-C-T p.Arg144Gln missense ANKFY1 1 80950 1.23533E-5 40475 0 8.35506E-6
17-4120308-T-C p.Asn143Ser missense ANKFY1 1 80952 1.2353E-5 40476 0 4.00853E-6
17-4120319-C-T p.Met139Ile missense ANKFY1 1 80954 1.23527E-5 40477 0 NA
17-4120358-C-T p.Leu126Leu synonymous ANKFY1 1 80928 1.23567E-5 40464 0 NA
17-4120360-G-C p.Leu126Val missense ANKFY1 1 80912 1.23591E-5 40456 0 NA
17-4120380-C-T p.Arg119His missense ANKFY1 10 80850 1.23686E-4 40425 0 0.00700726
17-4120387-T-C p.Met117Val missense ANKFY1 1 80768 1.23811E-5 40384 0 3.18451E-5
17-4120394-C-T p.Thr114Thr synonymous ANKFY1 4 80678 4.95798E-5 40339 0 8.29573E-6
17-4120395-G-A p.Thr114Met missense ANKFY1 7 80632 8.68142E-5 40316 0 1.16138E-4
17-4120397-C-T p.Val113Val synonymous ANKFY1 1 80596 1.24076E-5 40298 0 3.20703E-5
17-4120406-A-C p.Asn110Lys missense ANKFY1 1 80440 1.24316E-5 40220 0 3.18471E-5
17-4139069-G-A p.Ser107Leu missense+splice_region ANKFY1 1 80848 1.23689E-5 40424 0 NA
17-4139073-G-C p.Leu106Val missense ANKFY1 1 80874 1.23649E-5 40437 0 NA
17-4139079-A-G p.Leu104Leu synonymous ANKFY1 2 80896 2.47231E-5 40448 0 3.18451E-5
17-4139089-G-A p.Ser100Ser synonymous ANKFY1 16 80926 1.97711E-4 40463 0 7.32204E-4
17-4139105-A-G p.Leu95Pro missense ANKFY1 2 80958 2.47042E-5 40479 0 1.65637E-5
17-4139123-C-T p.Arg89His missense ANKFY1 1 80960 1.23518E-5 40480 0 4.00798E-6
17-4139124-G-A p.Arg89Cys missense ANKFY1 1 80946 1.23539E-5 40473 0 4.14113E-5
17-4139131-C-G p.Leu86Leu synonymous ANKFY1 3 80962 3.70544E-5 40481 0 8.28295E-6
17-4139151-T-C p.Ser80Gly missense ANKFY1 1 80954 1.23527E-5 40477 0 2.48542E-5
17-4139154-T-C p.Ile79Val missense ANKFY1 7 80960 8.64625E-5 40480 0 NA
17-4139160-T-C p.Arg77Gly missense ANKFY1 2 80946 2.47078E-5 40473 0 8.28803E-6
17-4139176-C-T p.Lys71Lys synonymous ANKFY1 8 80910 9.88753E-5 40455 0 3.07207E-4
17-4139185-G-A p.Ser68Ser splice_region+synonymous ANKFY1 25 80814 3.09352E-4 40407 0 1.90998E-4
17-4139188-G-GTACTGCTCCTGCTCGTAGAGGTCTGCCACGATGGCC c.204-4_204-3insGGCCATCGTGGCAGACCTCTACGAGCAGGAGCAGTA splice_region ANKFY1 4 80808 4.95E-5 40404 2 NA
17-4145543-TC-AT c.203+7_203+8delGAinsAT splice_region ANKFY1 1 79420 1.25913E-5 39710 0 NA
17-4145557-T-C p.Gln66Arg missense ANKFY1 3 79960 3.75188E-5 39980 0 4.59196E-6
17-4145563-T-C p.Gln64Arg missense ANKFY1 2 80076 2.49763E-5 40038 0 4.49345E-6
17-4145568-G-A p.Tyr62Tyr synonymous ANKFY1 3 80164 3.74233E-5 40082 0 9.55536E-5
17-4145577-T-C p.Ala59Ala synonymous ANKFY1 2 80306 2.49047E-5 40153 0 6.09167E-5
17-4145586-G-A p.Ala56Ala synonymous ANKFY1 1 80474 1.24264E-5 40237 0 NA
17-4145596-C-T p.Arg53His missense ANKFY1 1 80584 1.24094E-5 40292 0 3.35154E-5
17-4145612-C-T p.Glu48Lys missense ANKFY1 2 80746 2.4769E-5 40373 0 6.37146E-5
17-4145613-G-T p.Ser47Arg missense ANKFY1 1 80760 1.23824E-5 40380 0 4.31198E-6
17-4145624-CCTT-C p.Lys43del conservative_inframe_deletion ANKFY1 1 80816 1.23738E-5 40408 0 3.18471E-5
17-4145627-T-C p.Lys43Glu missense ANKFY1 1 80824 1.23726E-5 40412 0 NA
17-4145634-C-T p.Gln40Gln synonymous ANKFY1 2 80794 2.47543E-5 40397 0 NA
17-4145637-C-T p.Ala39Ala synonymous ANKFY1 6 80772 7.42832E-5 40386 0 6.67022E-5
17-4145638-G-A p.Ala39Val missense ANKFY1 4 80758 4.95307E-5 40379 0 3.18512E-5
17-4145640-A-C p.Ala38Ala synonymous ANKFY1 2 80794 2.47543E-5 40397 0 NA
17-4145642-C-T p.Ala38Thr missense ANKFY1 2 80798 2.47531E-5 40399 0 NA
17-4145647-A-G p.Leu36Pro missense ANKFY1 1 80794 1.23772E-5 40397 0 8.33722E-6
17-4145648-G-C p.Leu36Val missense ANKFY1 3 80780 3.71379E-5 40390 0 NA
17-4145651-C-T p.Ala35Thr missense ANKFY1 2 80738 2.47715E-5 40369 0 1.67555E-5
17-4145652-G-A p.Cys34Cys synonymous ANKFY1 3 80730 3.71609E-5 40365 0 6.37024E-5
17-4145670-C-T p.Ala28Ala synonymous ANKFY1 7 80760 8.66766E-5 40380 0 4.17564E-5
17-4145671-G-A p.Ala28Val missense ANKFY1 1 80736 1.2386E-5 40368 0 8.38012E-6
17-4145691-G-C p.Val21Val synonymous ANKFY1 1 80700 1.23916E-5 40350 0 NA
17-4145704-C-T p.Arg17Gln missense ANKFY1 1 80664 1.23971E-5 40332 0 NA
17-4145714-T-G p.Met14Leu missense ANKFY1 1 80622 1.24036E-5 40311 0 2.57091E-4
17-4145721-C-A p.Lys11Asn missense ANKFY1 36 80552 4.46916E-4 40276 0 3.10543E-4
17-4145739-C-A p.Glu5Asp missense ANKFY1 1 80356 1.24446E-5 40178 0 NA
17-4145747-C-T c.11-4G>A splice_region ANKFY1 1 80224 1.24651E-5 40112 0 NA
17-4166883-G-A c.136+7C>T splice_region ANKFY1 12 48186 2.49035E-4 24093 0 2.33838E-4
17-4166884-GCTT-G c.136+3_136+5delAAG splice_region ANKFY1 38 48474 7.83925E-4 24237 0 0.0011803
17-4166884-G-A c.136+6C>T splice_region ANKFY1 1 48478 2.06279E-5 24239 0 7.79496E-6
17-4166889-C-T c.136+1G>A splice_donor ANKFY1 1 49816 2.00739E-5 24908 0 7.79083E-6
17-4166892-C-T p.Gly45Glu missense+splice_region ANKFY1 1 50522 1.97934E-5 25261 0 1.55907E-5
17-4166898-G-A p.Ala43Val missense ANKFY1 4 51558 7.75825E-5 25779 0 NA
17-4166914-G-A p.Arg38Trp missense ANKFY1 2 53912 3.70975E-5 26956 0 9.30233E-5
17-4166926-C-T p.Ala34Thr missense ANKFY1 1 55232 1.81054E-5 27616 0 NA
17-4166930-C-A p.Arg32Arg synonymous ANKFY1 9 55704 1.61568E-4 27852 0 7.01262E-4
17-4166932-G-A p.Arg32Trp missense ANKFY1 1 55642 1.7972E-5 27821 0 1.55872E-5
17-4166943-G-C p.Pro28Arg missense ANKFY1 1 56322 1.77551E-5 28161 0 NA
17-4166953-G-A p.Arg25Cys missense ANKFY1 1 56766 1.76162E-5 28383 0 3.19183E-5
17-4166972-G-A p.Arg18Arg synonymous ANKFY1 3 57106 5.25339E-5 28553 0 1.59464E-5
17-4166979-C-T p.Arg16Lys missense ANKFY1 1 57918 1.72658E-5 28959 0 3.31983E-5
17-4166984-A-T p.Ala14Ala synonymous ANKFY1 2 58386 3.42548E-5 29193 0 2.6261E-5
17-4166991-C-A p.Ser12Ile missense ANKFY1 98 58514 0.00167481 29257 0 0.00322478
17-4166994-C-T p.Arg11Gln missense ANKFY1 1 58752 1.70207E-5 29376 0 4.30737E-5
17-4167016-G-A p.Pro4Ser missense ANKFY1 1 60424 1.65497E-5 30212 0 3.19448E-5
17-4167017-G-C p.Thr3Thr synonymous ANKFY1 1 60580 1.65071E-5 30290 0 NA
17-4167018-G-T p.Thr3Asn missense ANKFY1 1 60622 1.64957E-5 30311 0 NA
17-4167060-G-A c.-35C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 1 69850 1.43164E-5 34925 0 NA
17-4167107-G-A c.-82C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 6 75036 7.99616E-5 37518 0 NA
17-4167126-T-G c.-101A>C 5_prime_UTR_premature_start_codon_gain ANKFY1 4 76676 5.21676E-5 38338 0 6.38121E-5
17-4167219-A-G c.10+8T>C splice_region ANKFY1 1 79500 1.25786E-5 39750 0 NA
17-4167219-A-C c.10+8T>G splice_region ANKFY1 5 79500 6.28931E-5 39750 0 6.25E-4
17-4167221-C-T c.10+6G>A splice_region ANKFY1 1 79522 1.25751E-5 39761 0 4.02385E-6
17-4167223-C-T c.10+4G>A splice_region ANKFY1 1 79598 1.25631E-5 39799 0 4.02298E-6
17-4167231-C-T p.Ala2Ala synonymous ANKFY1 1 79664 1.25527E-5 39832 0 1.00539E-4
17-4167236-T-G p.Met1? initiator_codon ANKFY1 1 79722 1.25436E-5 39861 0 NA
17-4167246-G-A c.-10C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 1 79706 1.25461E-5 39853 0 8.39997E-6



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