ATAVDB
Home About Terms Contact
 Sign In

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 36306 2.75437E-5 18153 0 NA
17-4071073-C-A p.Ter1170Tyrext*? stop_lost ANKFY1 2 83050 2.40819E-5 41525 0 NA
17-4071074-T-C p.Ter1170Trpext*? stop_lost ANKFY1 2 83076 2.40743E-5 41538 0 3.18593E-5
17-4071082-C-A p.Gly1167Gly synonymous ANKFY1 2 83120 2.40616E-5 41560 0 1.84589E-4
17-4071101-TCAAAA-T p.Cys1159fs frameshift ANKFY1 1 83246 1.20126E-5 41623 0 NA
17-4071118-A-G p.Val1155Val synonymous ANKFY1 2 83292 2.40119E-5 41646 0 NA
17-4071121-C-T p.Arg1154Arg synonymous ANKFY1 4 83300 4.80192E-5 41650 0 6.37064E-5
17-4071123-G-T p.Arg1154Arg synonymous ANKFY1 1 83296 1.20054E-5 41648 0 2.80653E-5
17-4071137-A-T p.Leu1149Gln missense ANKFY1 1 83266 1.20097E-5 41633 0 NA
17-4071138-G-A p.Leu1149Leu synonymous ANKFY1 8 83270 9.6073E-5 41635 0 0.00375
17-4071150-T-C p.Ile1145Val missense ANKFY1 2 83274 2.40171E-5 41637 0 2.0042E-5
17-4071153-T-A p.Ile1144Phe missense ANKFY1 1 83284 1.20071E-5 41642 0 NA
17-4071154-A-G p.Pro1143Pro synonymous ANKFY1 2 83286 2.40136E-5 41643 0 NA
17-4071157-A-G p.Ile1142Ile synonymous ANKFY1 1 83288 1.20065E-5 41644 0 NA
17-4071169-C-T p.Ser1138Ser synonymous ANKFY1 1 83250 1.2012E-5 41625 0 6.25E-4
17-4071188-A-C p.Leu1132Arg missense ANKFY1 4 83220 4.80654E-5 41610 0 NA
17-4071196-G-A p.Cys1129Cys synonymous ANKFY1 3 83168 3.60716E-5 41584 0 8.32335E-6
17-4071444-TG-T c.*423delC splice_region ANKFY1 1 23664 4.22583E-5 11832 0 NA
17-4071445-G-T c.*423C>A splice_region ANKFY1 3 22078 1.35882E-4 11039 0 0.0180295
17-4071485-G-A c.*383C>T splice_region ANKFY1 2 5862 3.4118E-4 2931 0 6.54065E-5
17-4072484-G-A c.3377+8C>T splice_region ANKFY1 1 70358 1.4213E-5 35179 0 NA
17-4072485-G-A c.3377+7C>T splice_region ANKFY1 1 70546 1.41751E-5 35273 0 6.48963E-6
17-4072518-G-A p.Phe1117Phe synonymous ANKFY1 2 74154 2.69709E-5 37077 0 3.18451E-5
17-4072527-A-G p.Thr1114Thr synonymous ANKFY1 1 74706 1.33858E-5 37353 0 6.3782E-6
17-4072551-G-A p.Asp1106Asp synonymous ANKFY1 1 74664 1.33933E-5 37332 0 3.18613E-5
17-4072571-T-G p.Lys1100Gln missense ANKFY1 20 74188 2.69585E-4 37094 0 7.32764E-4
17-4072574-A-G p.Ser1099Pro missense ANKFY1 28 73854 3.79126E-4 36927 0 0.00187735
17-4072579-A-G p.Met1097Thr missense ANKFY1 4 73516 5.44099E-5 36758 0 6.25782E-4
17-4072589-C-A c.3287-7G>T splice_region ANKFY1 1 72486 1.37958E-5 36243 0 NA
17-4074001-C-A c.3286+8G>T splice_region ANKFY1 4 82584 4.84355E-5 41292 0 6.20226E-5
17-4074002-C-T c.3286+7G>A splice_region ANKFY1 1 82608 1.21054E-5 41304 0 NA
17-4074010-C-T p.Leu1095Leu splice_region+synonymous ANKFY1 1 82738 1.20863E-5 41369 0 4.10458E-6
17-4074018-G-A p.Arg1093* stop_gained ANKFY1 1 82800 1.20773E-5 41400 0 NA
17-4074024-G-A p.Leu1091Leu synonymous ANKFY1 2 82914 2.41214E-5 41457 0 NA
17-4074046-G-A p.Tyr1083Tyr synonymous ANKFY1 1 83042 1.20421E-5 41521 0 NA
17-4074048-A-G p.Tyr1083His missense ANKFY1 7 83032 8.43048E-5 41516 0 5.61622E-5
17-4074058-G-A p.Asn1079Asn synonymous ANKFY1 1 83136 1.20285E-5 41568 0 NA
17-4074063-C-T p.Val1078Ile missense ANKFY1 3 83146 3.60811E-5 41573 0 NA
17-4074067-C-T p.Gln1076Gln synonymous ANKFY1 1 83162 1.20247E-5 41581 0 NA
17-4074085-G-A p.Leu1070Leu synonymous ANKFY1 11 83204 1.32205E-4 41602 0 0.00100705
17-4074088-G-A p.Arg1069Arg synonymous ANKFY1 5 83184 6.01077E-5 41592 0 5.03525E-4
17-4074089-C-T p.Arg1069His missense ANKFY1 13 83172 1.56303E-4 41586 0 1.36337E-4
17-4074090-G-A p.Arg1069Cys missense ANKFY1 3 83172 3.60698E-5 41586 0 NA
17-4074097-C-T p.Ser1066Ser synonymous ANKFY1 3 83184 3.60646E-5 41592 0 4.97315E-5
17-4074098-G-A p.Ser1066Leu missense ANKFY1 1 83186 1.20213E-5 41593 0 1.20248E-5
17-4074101-C-T p.Arg1065Gln missense ANKFY1 1 83192 1.20204E-5 41596 0 2.4869E-5
17-4074102-G-A p.Arg1065Trp missense ANKFY1 1 83186 1.20213E-5 41593 0 NA
17-4074106-G-A p.Ile1063Ile synonymous ANKFY1 4 83186 4.8085E-5 41593 0 3.31576E-5
17-4074108-T-C p.Ile1063Val missense ANKFY1 1 83192 1.20204E-5 41596 0 4.00837E-6
17-4074111-C-T p.Ala1062Thr missense ANKFY1 2 83162 2.40494E-5 41581 0 3.18634E-5
17-4074112-G-A p.Arg1061Arg synonymous ANKFY1 165 83154 0.00198427 41577 2 0.00554387
17-4074113-C-T p.Arg1061His missense ANKFY1 1 83146 1.2027E-5 41573 0 5.80325E-5
17-4074124-G-A p.Ala1057Ala synonymous ANKFY1 42 83118 5.05306E-4 41559 0 0.00114694
17-4074127-G-A p.Asn1056Asn synonymous ANKFY1 3 83128 3.60889E-5 41564 0 1.60336E-5
17-4074138-T-C p.Met1053Val missense ANKFY1 2 83096 2.40685E-5 41548 0 9.55597E-5
17-4075852-C-T p.Thr1046Thr splice_region+synonymous ANKFY1 5 82964 6.02671E-5 41482 0 3.21445E-5
17-4075855-G-A p.Ser1045Ser synonymous ANKFY1 1 83004 1.20476E-5 41502 0 NA
17-4075861-G-A p.Asp1043Asp synonymous ANKFY1 12 83072 1.44453E-4 41536 0 1.16388E-4
17-4075869-C-T p.Asp1041Asn missense ANKFY1 1 83148 1.20267E-5 41574 0 NA
17-4075871-G-A p.Pro1040Leu missense ANKFY1 2 83150 2.40529E-5 41575 0 5.06586E-4
17-4075875-T-C p.Lys1039Glu missense ANKFY1 1 83178 1.20224E-5 41589 0 NA
17-4075888-C-T p.Gly1034Gly synonymous ANKFY1 3 83244 3.60386E-5 41622 0 NA
17-4075951-C-G p.Leu1013Phe missense ANKFY1 1 83342 1.19988E-5 41671 0 NA
17-4075957-G-A p.His1011His synonymous ANKFY1 1 83340 1.1999E-5 41670 0 NA
17-4075966-T-G p.Ser1008Ser synonymous ANKFY1 6 83316 7.2015E-5 41658 0 1.91071E-4
17-4075974-C-T p.Gly1006Ser missense+splice_region ANKFY1 21 83262 2.52216E-4 41631 0 6.639E-5
17-4076641-G-A c.3014+8C>T splice_region ANKFY1 5 82626 6.05136E-5 41313 0 4.15614E-5
17-4076642-C-G c.3014+7G>C splice_region ANKFY1 1 82674 1.20957E-5 41337 0 NA
17-4076642-C-T c.3014+7G>A splice_region ANKFY1 1 82674 1.20957E-5 41337 0 0.00125
17-4076643-G-A c.3014+6C>T splice_region ANKFY1 2 82698 2.41844E-5 41349 0 1.66163E-5
17-4076646-C-T c.3014+3G>A splice_region ANKFY1 1 82808 1.20761E-5 41404 0 8.30261E-6
17-4076661-G-C p.Ala1001Gly missense ANKFY1 1 83050 1.20409E-5 41525 0 8.29022E-6
17-4076666-G-C p.Ala999Ala synonymous ANKFY1 2 83074 2.40749E-5 41537 0 1.59317E-4
17-4076667-G-C p.Ala999Gly missense ANKFY1 2 83082 2.40726E-5 41541 0 NA
17-4076669-G-A p.Asp998Asp synonymous ANKFY1 1297 83086 0.0156103 41543 61 0.0300115
17-4076672-C-T p.Val997Val synonymous ANKFY1 1 83138 1.20282E-5 41569 0 8.28555E-6
17-4076684-T-C p.Thr993Thr synonymous ANKFY1 2 83184 2.40431E-5 41592 0 3.18593E-5
17-4076690-G-A p.Leu991Leu synonymous ANKFY1 4 83224 4.80631E-5 41612 0 3.1841E-5
17-4076712-C-T p.Arg984Gln missense ANKFY1 7 83220 8.41144E-5 41610 0 3.18573E-5
17-4076713-G-A p.Arg984Trp missense ANKFY1 1 83202 1.20189E-5 41601 0 3.18573E-5
17-4076715-C-T p.Gly983Asp missense ANKFY1 1 83200 1.20192E-5 41600 0 NA
17-4076716-C-T p.Gly983Ser missense ANKFY1 6 83194 7.21206E-5 41597 0 6.37892E-4
17-4077206-T-C p.Asn974Ser missense+splice_region ANKFY1 1 83326 1.20011E-5 41663 0 3.18512E-5
17-4077209-T-C p.Asn973Ser missense ANKFY1 1 83332 1.20002E-5 41666 0 4.02298E-6
17-4077225-C-T p.Val968Met missense ANKFY1 3 83354 3.59911E-5 41677 0 9.55353E-5
17-4077240-C-T p.Val963Met missense ANKFY1 2 83358 2.39929E-5 41679 0 9.55231E-5
17-4077268-G-A p.Thr953Thr synonymous ANKFY1 1 83366 1.19953E-5 41683 0 4.00712E-6
17-4077269-G-C p.Thr953Ser missense ANKFY1 2 83370 2.39894E-5 41685 0 3.31274E-5
17-4077279-C-A p.Asp950Tyr missense ANKFY1 1 83362 1.19959E-5 41681 0 8.28185E-6
17-4077291-C-T p.Ala946Thr missense ANKFY1 6 83368 7.19701E-5 41684 0 3.31285E-5
17-4077305-G-T p.Thr941Asn missense ANKFY1 4 83354 4.79881E-5 41677 0 3.1835E-5
17-4077311-C-T p.Arg939His missense ANKFY1 3 83348 3.59937E-5 41674 0 1.60313E-5
17-4077328-G-A p.Asn933Asn synonymous ANKFY1 7 83346 8.39872E-5 41673 0 3.31846E-5
17-4077331-C-T p.Val932Val synonymous ANKFY1 1 83346 1.19982E-5 41673 0 1.20286E-5
17-4077339-C-A p.Ala930Ser missense ANKFY1 1 83318 1.20022E-5 41659 0 4.01072E-6
17-4077341-C-T p.Gly929Glu missense ANKFY1 1 83308 1.20036E-5 41654 0 9.55292E-5
17-4077352-CTGTTG-C c.2776-6_2776-2delCAACA splice_acceptor ANKFY1 2 83274 2.40171E-5 41637 0 NA
17-4077355-T-C c.2776-4A>G splice_region ANKFY1 1 83242 1.20132E-5 41621 0 NA
17-4080449-G-A p.Ala916Val missense ANKFY1 1 82964 1.20534E-5 41482 0 3.1837E-5
17-4080472-G-C p.Thr908Thr synonymous ANKFY1 1 83226 1.20155E-5 41613 0 5.82092E-5
17-4080479-T-C p.Lys906Arg missense ANKFY1 1 83250 1.2012E-5 41625 0 8.30289E-6
17-4080514-G-A p.His894His synonymous ANKFY1 16 83278 1.92128E-4 41639 0 1.58476E-4
17-4080514-G-C p.His894Gln missense ANKFY1 1 83280 1.20077E-5 41640 0 NA
17-4080553-G-C p.Asn881Lys missense ANKFY1 1 83208 1.20181E-5 41604 0 NA
17-4080600-A-C c.2599-3T>G splice_region ANKFY1 1 82922 1.20595E-5 41461 0 NA
17-4082157-C-G p.Glu865Gln missense ANKFY1 2 83302 2.4009E-5 41651 0 NA
17-4082158-A-T p.Ala864Ala synonymous ANKFY1 1 83314 1.20028E-5 41657 0 NA
17-4082162-G-C p.Ala863Gly missense ANKFY1 1 83320 1.20019E-5 41660 0 4.00734E-6
17-4082166-C-T p.Gly862Arg missense ANKFY1 4 83332 4.80008E-5 41666 0 5.03525E-4
17-4082167-G-A p.Ser861Ser synonymous ANKFY1 7 83330 8.40034E-5 41665 0 3.18492E-5
17-4082179-G-A p.Leu857Leu synonymous ANKFY1 1 83372 1.19944E-5 41686 0 NA
17-4082190-C-T p.Glu854Lys missense ANKFY1 1 83370 1.19947E-5 41685 0 8.2824E-6
17-4082190-C-A p.Glu854* stop_gained ANKFY1 2 83368 2.399E-5 41684 0 NA
17-4082191-G-A p.Ala853Ala synonymous ANKFY1 5 83378 5.99679E-5 41689 0 9.5584E-5
17-4082197-CTTG-C p.Asn850del disruptive_inframe_deletion ANKFY1 1 83378 1.19936E-5 41689 0 3.18451E-5
17-4082204-T-C p.Asn849Ser missense ANKFY1 1 83382 1.1993E-5 41691 0 1.20201E-5
17-4082230-C-T p.Pro840Pro synonymous ANKFY1 3 83364 3.59868E-5 41682 0 9.55657E-5
17-4082252-C-T p.Arg833Gln missense ANKFY1 3 83360 3.59885E-5 41680 0 3.18532E-5
17-4082270-T-G p.Asp827Ala missense ANKFY1 2 83334 2.39998E-5 41667 0 9.55779E-5
17-4082271-C-T p.Asp827Asn missense ANKFY1 4 83334 4.79996E-5 41667 0 3.18492E-5
17-4082275-G-A p.His825His synonymous ANKFY1 1 83330 1.20005E-5 41665 0 NA
17-4082290-C-G p.Gln820His missense ANKFY1 1 83308 1.20036E-5 41654 0 NA
17-4082298-T-C p.Ile818Val missense ANKFY1 1 83306 1.20039E-5 41653 0 1.20198E-5
17-4082305-G-A p.His815His synonymous ANKFY1 1 83276 1.20083E-5 41638 0 5.03525E-4
17-4082314-G-A p.Ser812Ser synonymous ANKFY1 1 83238 1.20137E-5 41619 0 1.60276E-5
17-4082317-G-A p.Ile811Ile synonymous ANKFY1 2 83222 2.40321E-5 41611 0 5.03525E-4
17-4082325-C-T p.Val809Met missense ANKFY1 1 83182 1.20218E-5 41591 0 9.55779E-5
17-4082326-G-A p.His808His synonymous ANKFY1 1 83180 1.20221E-5 41590 0 6.36862E-5
17-4082335-G-C p.Thr805Thr synonymous ANKFY1 3 83116 3.60941E-5 41558 0 8.29958E-6
17-4082344-T-C p.Glu802Glu synonymous ANKFY1 2 83030 2.40877E-5 41515 0 NA
17-4083008-C-T c.2397+8G>A splice_region ANKFY1 113 83356 0.00135563 41678 1 0.00254874
17-4083017-T-C p.Gln799Arg missense+splice_region ANKFY1 1 83370 1.19947E-5 41685 0 8.02401E-6
17-4083018-G-C p.Gln799Glu missense+splice_region ANKFY1 1 83374 1.19941E-5 41687 0 4.0113E-6
17-4083019-T-C p.Ala798Ala synonymous ANKFY1 1 83374 1.19941E-5 41687 0 NA
17-4083021-C-T p.Ala798Thr missense ANKFY1 2 83370 2.39894E-5 41685 0 1.60462E-5
17-4083022-G-A p.Asn797Asn synonymous ANKFY1 1 83366 1.19953E-5 41683 0 3.18573E-5
17-4083027-C-T p.Val796Met missense ANKFY1 1 83368 1.1995E-5 41684 0 1.60386E-5
17-4083028-G-A p.Asn795Asn synonymous ANKFY1 2 83368 2.399E-5 41684 0 4.41002E-5
17-4083048-G-A p.Leu789Phe missense ANKFY1 1 83376 1.19939E-5 41688 0 NA
17-4083051-A-G p.Cys788Arg missense ANKFY1 1 83370 1.19947E-5 41685 0 1.65653E-5
17-4083070-C-T p.Gly781Gly synonymous ANKFY1 1 83378 1.19936E-5 41689 0 NA
17-4083077-G-A p.Ser779Phe missense ANKFY1 1 83372 1.19944E-5 41686 0 NA
17-4083079-G-A p.Ala778Ala synonymous ANKFY1 4 83374 4.79766E-5 41687 0 3.3123E-5
17-4083082-T-C p.Ala777Ala synonymous ANKFY1 1 83372 1.19944E-5 41686 0 NA
17-4083098-G-T p.Thr772Asn missense ANKFY1 1 83362 1.19959E-5 41681 0 1.6561E-5
17-4083113-G-T p.Ala767Asp missense ANKFY1 2 83368 2.399E-5 41684 0 NA
17-4083125-CCTT-C p.Glu762del disruptive_inframe_deletion ANKFY1 1 83364 1.19956E-5 41682 0 2.48418E-5
17-4083127-T-C p.Glu762Glu synonymous ANKFY1 39 83356 4.67873E-4 41678 0 4.47161E-4
17-4083130-T-C p.Gly761Gly synonymous ANKFY1 1 83364 1.19956E-5 41682 0 NA
17-4083134-T-C p.Asn760Ser missense ANKFY1 4 83358 4.79858E-5 41679 0 1.32224E-4
17-4083141-C-T p.Gly758Ser missense ANKFY1 1 83352 1.19973E-5 41676 0 NA
17-4083146-T-C p.Gln756Arg missense ANKFY1 1 83350 1.19976E-5 41675 0 NA
17-4083163-G-A p.Asp750Asp synonymous ANKFY1 42 83326 5.04044E-4 41663 0 3.31301E-4
17-4083180-G-C c.2241-8C>G splice_region ANKFY1 1 83282 1.20074E-5 41641 0 NA
17-4084322-T-G n.464A>C splice_region ANKFY1 1 45136 2.21553E-5 22568 0 NA
17-4084544-C-G c.2240+5G>C splice_region ANKFY1 1 83158 1.20253E-5 41579 0 8.32875E-6
17-4084552-C-T p.Arg746His missense ANKFY1 2 83218 2.40333E-5 41609 0 0.00125
17-4084568-C-T p.Ala741Thr missense ANKFY1 3 83288 3.60196E-5 41644 0 NA
17-4084578-G-A p.Asn737Asn synonymous ANKFY1 1 83314 1.20028E-5 41657 0 4.97901E-5
17-4084579-T-C p.Asn737Ser missense ANKFY1 1 83308 1.20036E-5 41654 0 8.29738E-6
17-4084602-C-T p.Leu729Leu synonymous ANKFY1 1 83324 1.20013E-5 41662 0 NA
17-4084606-A-T p.Leu728His missense ANKFY1 1 83318 1.20022E-5 41659 0 NA
17-4084608-C-T p.Thr727Thr synonymous ANKFY1 171 83312 0.00205253 41656 3 0.0065036
17-4084609-G-A p.Thr727Met missense ANKFY1 6 83318 7.20133E-5 41659 0 5.03525E-4
17-4084622-C-T p.Gly723Arg missense ANKFY1 11 83300 1.32053E-4 41650 0 6.36902E-5
17-4084626-A-AT p.Gly722fs frameshift ANKFY1 1 83296 1.20054E-5 41648 0 NA
17-4084630-C-G p.Gly720Ala missense ANKFY1 1 83292 1.2006E-5 41646 0 NA
17-4084632-C-T p.Pro719Pro synonymous ANKFY1 1 83280 1.20077E-5 41640 0 1.20217E-5
17-4084633-G-A p.Pro719Leu missense ANKFY1 4 83280 4.80307E-5 41640 0 0.00151057
17-4084644-T-G p.Thr715Thr synonymous ANKFY1 13 83264 1.5613E-4 41632 0 1.59195E-4
17-4084654-C-G p.Cys712Ser missense ANKFY1 2 83238 2.40275E-5 41619 0 NA
17-4084660-T-C p.His710Arg missense ANKFY1 2 83186 2.40425E-5 41593 0 1.60323E-5
17-4084673-GAA-G c.2122-8_2122-7delTT splice_region ANKFY1 1 83014 1.20462E-5 41507 0 NA
17-4085473-C-G c.2121+3G>C splice_region ANKFY1 6 80682 7.4366E-5 40341 1 NA
17-4085499-G-T p.Leu700Met missense ANKFY1 6 82080 7.30994E-5 41040 0 3.4623E-5
17-4085505-T-G p.Asn698His missense ANKFY1 2 82252 2.43155E-5 41126 0 8.60274E-6
17-4085506-T-C p.Ala697Ala synonymous ANKFY1 1 82246 1.21586E-5 41123 0 NA
17-4085511-A-G p.Leu696Leu synonymous ANKFY1 1 82470 1.21256E-5 41235 0 NA
17-4085524-C-T p.Pro691Pro synonymous ANKFY1 1 82606 1.21057E-5 41303 0 9.55353E-5
17-4085525-G-A p.Pro691Leu missense ANKFY1 2 82636 2.42025E-5 41318 0 1.50847E-4
17-4085527-G-A p.Pro690Pro synonymous ANKFY1 1 82640 1.21007E-5 41320 0 2.50916E-5
17-4085528-G-A p.Pro690Leu missense ANKFY1 10 82668 1.20966E-4 41334 0 0.00151057
17-4085553-A-C p.Ser682Ala missense ANKFY1 4 82980 4.82044E-5 41490 0 3.1841E-5
17-4085555-A-G p.Met681Thr missense ANKFY1 1 82986 1.20502E-5 41493 0 NA
17-4085557-G-A p.Asp680Asp synonymous ANKFY1 1 82992 1.20494E-5 41496 0 NA
17-4085567-C-T p.Arg677Gln missense ANKFY1 38 83030 4.57666E-4 41515 0 5.03525E-4
17-4085593-T-C p.Pro668Pro synonymous ANKFY1 2 82924 2.41185E-5 41462 0 2.49302E-5
17-4085607-T-G p.Arg664Arg synonymous ANKFY1 3 82870 3.62013E-5 41435 0 NA
17-4085632-C-A p.Gly655Gly synonymous ANKFY1 4 82460 4.85084E-5 41230 0 2.94486E-5
17-4085638-C-A p.Gln653His missense ANKFY1 14 82392 1.69919E-4 41196 0 2.22887E-4
17-4086689-C-T c.1952+4G>A splice_region ANKFY1 9 83294 1.08051E-4 41647 0 6.36821E-5
17-4086730-G-C p.Leu639Val missense ANKFY1 1 83242 1.20132E-5 41621 0 NA
17-4086731-T-C p.Ala638Ala synonymous ANKFY1 2 83236 2.40281E-5 41618 0 NA
17-4086733-C-T p.Ala638Thr missense ANKFY1 1 83226 1.20155E-5 41613 0 5.21184E-5
17-4086734-G-A p.Ser637Ser synonymous ANKFY1 1 83214 1.20172E-5 41607 0 3.18552E-5
17-4086763-T-C p.Met628Val missense ANKFY1 1 83166 1.20241E-5 41583 0 5.03525E-4
17-4086774-G-A p.Thr624Met missense ANKFY1 3 83072 3.61133E-5 41536 0 2.48653E-5
17-4086784-C-T p.Asp621Asn missense ANKFY1 1 83002 1.20479E-5 41501 0 5.03525E-4
17-4086785-C-T p.Ser620Ser synonymous ANKFY1 13 82998 1.5663E-4 41499 0 4.14449E-5
17-4086786-G-A p.Ser620Leu missense ANKFY1 1 82962 1.20537E-5 41481 0 8.01693E-6
17-4086789-A-G p.Met619Thr missense ANKFY1 1 82976 1.20517E-5 41488 0 8.28885E-6
17-4086790-T-C p.Met619Val missense ANKFY1 3 82966 3.61594E-5 41483 0 4.00808E-6
17-4086796-CATT-C p.Asn616del conservative_inframe_deletion ANKFY1 1 82944 1.20563E-5 41472 0 8.29132E-6
17-4086798-T-A p.Asn616Ile missense ANKFY1 1 82922 1.20595E-5 41461 0 NA
17-4086803-G-T p.Ala614Ala synonymous ANKFY1 3 82856 3.62074E-5 41428 0 NA
17-4086805-C-T p.Ala614Thr missense ANKFY1 8 82802 9.6616E-5 41401 0 0.0020141
17-4086809-T-G p.Gly612Gly synonymous ANKFY1 2 82700 2.41838E-5 41350 0 NA
17-4086827-G-C p.Ala606Ala synonymous ANKFY1 1 82444 1.21294E-5 41222 0 NA
17-4086829-C-T p.Ala606Thr missense ANKFY1 3 82392 3.64113E-5 41196 0 8.02929E-6
17-4086833-G-A p.Ile604Ile synonymous ANKFY1 2 82310 2.42984E-5 41155 0 3.32353E-5
17-4086836-C-T p.Thr603Thr synonymous ANKFY1 88 82228 0.0010702 41114 2 0.00564617
17-4086838-T-C p.Thr603Ala missense ANKFY1 1 82140 1.21743E-5 41070 0 1.41306E-4
17-4086843-A-G p.Met601Thr missense ANKFY1 1 82072 1.21844E-5 41036 0 1.20618E-5
17-4086846-C-CCAGTCCATAATGCCAGGCCCAGCACAGT c.1799-1_1799insACTGTGCTGGGCCTGGCATTATGGACTG splice_acceptor ANKFY1 1 81968 1.21999E-5 40984 0 NA
17-4087101-C-A c.1798+6G>T splice_region ANKFY1 1 83090 1.20351E-5 41545 0 NA
17-4087102-C-T c.1798+5G>A splice_region ANKFY1 1 83100 1.20337E-5 41550 0 8.28981E-6
17-4087113-A-G p.Trp598Arg missense ANKFY1 2 83158 2.40506E-5 41579 0 5.41401E-4
17-4087116-A-G p.Leu597Leu synonymous ANKFY1 4 83160 4.81E-5 41580 0 8.28363E-6
17-4087130-A-G p.Val592Ala missense ANKFY1 2 83204 2.40373E-5 41602 0 5.79739E-5
17-4087135-C-G p.Gln590His missense ANKFY1 1 83238 1.20137E-5 41619 0 1.202E-5
17-4087142-C-T p.Arg588Gln missense ANKFY1 2 83258 2.40217E-5 41629 0 3.18431E-5
17-4087144-G-A p.Ser587Ser synonymous ANKFY1 4 83270 4.80365E-5 41635 0 8.0134E-6
17-4087164-C-T p.Asp581Asn missense ANKFY1 1 83236 1.2014E-5 41618 0 NA
17-4087166-G-A p.Pro580Leu missense ANKFY1 1 83218 1.20166E-5 41609 0 2.00335E-5
17-4087187-G-A p.Thr573Ile missense ANKFY1 4 83150 4.81058E-5 41575 0 5.79643E-5
17-4087193-T-C p.His571Arg missense ANKFY1 7 83088 8.4248E-5 41544 0 6.36902E-5
17-4087197-G-A p.Leu570Phe missense ANKFY1 1 83058 1.20398E-5 41529 0 NA
17-4087202-T-C p.Asn568Ser missense ANKFY1 4 82974 4.82079E-5 41487 0 6.37064E-5
17-4087207-T-TTTCTGCTCCAGGATGACAGACACC c.1700-3_1700-2insGGTGTCTGTCATCCTGGAGCAGAA splice_region ANKFY1 1 82872 1.20668E-5 41436 0 NA
17-4087207-T-TTTCTGCTCCAGGATGACAGAC c.1700-3_1700-2insGTCTGTCATCCTGGAGCAGAA splice_region ANKFY1 2 82872 2.41336E-5 41436 1 NA
17-4088107-A-G c.1699+6T>C splice_region ANKFY1 1 83176 1.20227E-5 41588 0 3.31796E-5
17-4088129-G-A p.Val561Val synonymous ANKFY1 2 83274 2.40171E-5 41637 0 NA
17-4088130-A-G p.Val561Ala missense ANKFY1 1 83268 1.20094E-5 41634 0 4.01765E-6
17-4088144-C-T p.Pro556Pro synonymous ANKFY1 2 83314 2.40056E-5 41657 0 6.37024E-5
17-4088145-G-A p.Pro556Leu missense ANKFY1 2 83326 2.40021E-5 41663 0 NA
17-4088147-A-C p.His555Gln missense ANKFY1 43 83322 5.1607E-4 41661 0 6.69003E-4
17-4088154-T-C p.Tyr553Cys missense ANKFY1 1 83324 1.20013E-5 41662 0 1.65678E-5
17-4088158-C-T p.Ala552Thr missense ANKFY1 1 83318 1.20022E-5 41659 0 6.36943E-5
17-4088159-G-A n.430C>T splice_region ANKFY1 2 83320 2.40038E-5 41660 0 2.48505E-5
17-4088162-C-T p.Ala550Ala synonymous ANKFY1 2 83326 2.40021E-5 41663 0 1.65664E-5
17-4088191-C-T p.Val541Ile missense ANKFY1 2 83322 2.40033E-5 41661 0 4.00946E-6
17-4088194-T-C p.Ser540Gly missense ANKFY1 5 83312 6.00154E-5 41656 0 5.03525E-4
17-4088208-G-C p.Thr535Ser missense ANKFY1 6 83286 7.20409E-5 41643 0 6.25E-4
17-4088210-C-G p.Leu534Leu synonymous ANKFY1 1 83286 1.20068E-5 41643 0 NA
17-4088216-T-C p.Ala532Ala synonymous ANKFY1 1 83262 1.20103E-5 41631 0 NA
17-4088218-C-T p.Ala532Thr missense ANKFY1 2 83252 2.40234E-5 41626 0 2.00489E-5
17-4088227-T-C p.Lys529Glu missense ANKFY1 1 83246 1.20126E-5 41623 0 NA
17-4088242-C-T p.Ala524Thr missense ANKFY1 4 83218 4.80665E-5 41609 0 4.14134E-5
17-4088249-C-T p.Thr521Thr synonymous ANKFY1 5 83210 6.00889E-5 41605 0 3.18492E-5
17-4088250-G-A p.Thr521Met missense ANKFY1 6 83204 7.21119E-5 41602 0 1.49091E-4
17-4088260-T-C p.Asn518Asp missense ANKFY1 2 83186 2.40425E-5 41593 0 4.00962E-6
17-4088263-G-C p.Pro517Ala missense ANKFY1 1 83164 1.20244E-5 41582 0 NA
17-4088270-G-A p.Gly514Gly synonymous ANKFY1 1 83144 1.20273E-5 41572 0 5.03525E-4
17-4088282-G-A p.Leu510Leu synonymous ANKFY1 1 83098 1.2034E-5 41549 0 8.28391E-6
17-4088285-C-G p.Glu509Asp missense ANKFY1 3 83110 3.60967E-5 41555 0 NA
17-4088291-C-T p.Thr507Thr synonymous ANKFY1 69164 80994 0.85394 40497 30159 0.870625
17-4088310-T-C p.His501Arg missense ANKFY1 2 83006 2.40946E-5 41503 0 4.01655E-6
17-4088312-C-T p.Arg500Arg synonymous ANKFY1 3 82988 3.61498E-5 41494 0 3.18431E-5
17-4088313-C-T p.Arg500Gln missense ANKFY1 4 82978 4.82055E-5 41489 0 3.61704E-5
17-4088314-G-A p.Arg500Trp missense ANKFY1 1 82954 1.20549E-5 41477 0 NA
17-4088318-C-T c.-151G>A 5_prime_UTR_premature_start_codon_gain ANKFY1 5 82908 6.03078E-5 41454 0 1.27372E-4
17-4088346-A-G c.1471-5T>C splice_region ANKFY1 1 82274 1.21545E-5 41137 0 NA
17-4090183-C-A c.-175+6G>T splice_region ANKFY1 2 24266 8.24198E-5 12133 0 1.59175E-4
17-4090308-T-C c.-294A>G 5_prime_UTR_premature_start_codon_gain ANKFY1 108 24374 0.00443095 12187 0 0.00379222
17-4090348-C-T c.-334G>A 5_prime_UTR_premature_start_codon_gain ANKFY1 45 24592 0.00182986 12296 0 0.00328151
17-4090362-G-A c.-348C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 2 24400 8.19672E-5 12200 0 9.56389E-5
17-4090391-G-A c.-377C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 7 23060 3.03556E-4 11530 0 1.59591E-4
17-4092667-TCA-T c.1470+8_1470+9delTG splice_region ANKFY1 1 81880 1.2213E-5 40940 0 5.32464E-6
17-4092688-T-C p.Arg487Gly missense ANKFY1 1 82006 1.21942E-5 41003 0 NA
17-4092697-C-CA p.Val484fs frameshift ANKFY1 1 82026 1.21913E-5 41013 0 NA
17-4092700-G-A p.His483Tyr missense ANKFY1 2 82042 2.43778E-5 41021 0 9.48479E-6
17-4092703-C-T p.Ala482Thr missense ANKFY1 2 82040 2.43784E-5 41020 0 NA
17-4092704-A-G p.Gly481Gly synonymous ANKFY1 2 82006 2.43885E-5 41003 0 3.1841E-5
17-4092707-G-A p.Asn480Asn synonymous ANKFY1 3 82060 3.65586E-5 41030 0 NA
17-4092708-T-C p.Asn480Ser missense ANKFY1 10 82054 1.21871E-4 41027 0 4.2964E-4
17-4092710-G-T p.Thr479Thr synonymous ANKFY1 2 82080 2.43665E-5 41040 0 4.62989E-6
17-4092741-C-T p.Gly469Glu missense ANKFY1 1 82006 1.21942E-5 41003 0 2.48509E-5
17-4092744-G-A p.Ala468Val missense ANKFY1 1 81986 1.21972E-5 40993 0 NA
17-4092748-C-G p.Gly467Arg missense ANKFY1 3 82000 3.65854E-5 41000 0 9.57992E-6
17-4092756-C-T p.Arg464Gln missense ANKFY1 2 81896 2.44212E-5 40948 0 6.3678E-5
17-4092757-G-A p.Arg464Trp missense ANKFY1 2 81860 2.4432E-5 40930 0 2.6266E-5
17-4092772-T-C p.Asn459Asp missense+splice_region ANKFY1 1 81578 1.22582E-5 40789 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 82144 1.21737E-5 41072 0 NA
17-4098205-G-C p.Cys480Trp missense ANKFY1 3 82456 3.6383E-5 41228 0 NA
17-4098205-G-A p.Cys480Cys synonymous ANKFY1 1 82456 1.21277E-5 41228 0 NA
17-4098212-C-G p.Cys478Ser missense ANKFY1 1 82712 1.20901E-5 41356 0 NA
17-4098228-G-A p.Arg473Cys missense ANKFY1 1 82906 1.20619E-5 41453 0 0.00100806
17-4098244-G-A p.Asp467Asp synonymous ANKFY1 2 83084 2.4072E-5 41542 0 6.25E-4
17-4098246-C-T p.Asp467Asn missense ANKFY1 4 83098 4.81359E-5 41549 0 8.14214E-5
17-4098247-G-A p.Gly466Gly synonymous ANKFY1 7 83112 8.42237E-5 41556 0 1.59185E-4
17-4098254-C-T p.Arg464Gln missense ANKFY1 8 83140 9.62232E-5 41570 0 7.7228E-5
17-4098259-G-T p.Ala462Ala synonymous ANKFY1 1 83178 1.20224E-5 41589 0 NA
17-4098263-C-G p.Arg461Pro missense ANKFY1 2 83196 2.40396E-5 41598 0 1.27332E-4
17-4098263-C-A p.Arg461Leu missense ANKFY1 1 83196 1.20198E-5 41598 0 4.01162E-6
17-4098264-G-A p.Arg461Cys missense ANKFY1 7 83198 8.41366E-5 41599 0 1.59185E-4
17-4098277-C-A p.Ala456Ala synonymous ANKFY1 1 83254 1.20114E-5 41627 0 NA
17-4098277-C-T p.Ala456Ala synonymous ANKFY1 2 83254 2.40229E-5 41627 0 3.1841E-5
17-4098278-G-A p.Ala456Val missense ANKFY1 2 83258 2.40217E-5 41629 0 3.1839E-5
17-4098279-C-T p.Ala456Thr missense ANKFY1 1 83256 1.20111E-5 41628 0 NA
17-4098280-C-T p.Thr455Thr synonymous ANKFY1 2 83264 2.402E-5 41632 0 9.99334E-5
17-4098281-G-A p.Thr455Met missense ANKFY1 5 83272 6.00442E-5 41636 0 3.60791E-5
17-4098282-T-C p.Thr455Ala missense ANKFY1 4 83278 4.80319E-5 41639 0 3.20685E-5
17-4098307-G-A p.Arg446Arg synonymous ANKFY1 2 83312 2.40061E-5 41656 0 6.36902E-5
17-4098308-C-T p.Arg446His missense ANKFY1 1 83324 1.20013E-5 41662 0 9.55231E-5
17-4098309-G-A p.Arg446Cys missense ANKFY1 4 83314 4.80111E-5 41657 0 1.27356E-4
17-4098322-G-A p.Ala441Ala synonymous ANKFY1 1 83346 1.19982E-5 41673 0 NA
17-4098325-T-G p.Ala440Ala synonymous ANKFY1 9 83350 1.07978E-4 41675 0 1.6589E-5
17-4098340-A-T p.Asp435Glu missense ANKFY1 1 83364 1.19956E-5 41682 0 NA
17-4098347-G-A p.Ser433Leu missense ANKFY1 2 83362 2.39917E-5 41681 0 1.2021E-5
17-4098348-A-C p.Ser433Ala missense ANKFY1 5 83362 5.99794E-5 41681 0 8.2894E-6
17-4098363-C-T p.Val428Met missense ANKFY1 3 83352 3.59919E-5 41676 0 6.37105E-5
17-4098364-G-A p.Pro427Pro synonymous ANKFY1 6 83356 7.19804E-5 41678 0 1.59276E-4
17-4098375-C-T p.Glu424Lys missense ANKFY1 1 83342 1.19988E-5 41671 0 NA
17-4098382-G-T p.Asn421Lys missense ANKFY1 1 83338 1.19993E-5 41669 0 NA
17-4098390-A-G p.Ser419Pro missense ANKFY1 1 83340 1.1999E-5 41670 0 4.00689E-6
17-4098392-T-G p.Gln418Pro missense ANKFY1 1 83346 1.19982E-5 41673 0 NA
17-4098396-C-A p.Asp417Tyr missense ANKFY1 2 83338 2.39987E-5 41669 0 8.28789E-6
17-4098405-C-T p.Val414Met missense ANKFY1 7 83314 8.40195E-5 41657 0 6.37064E-5
17-4098419-A-G p.Val409Ala missense ANKFY1 1 83316 1.20025E-5 41658 0 3.18512E-5
17-4098448-G-A p.His399His synonymous ANKFY1 1 83258 1.20109E-5 41629 0 1.24995E-4
17-4098466-A-G p.Asp393Asp synonymous ANKFY1 1 83142 1.20276E-5 41571 0 8.56355E-6
17-4098466-A-C p.Asp393Glu missense ANKFY1 2 83142 2.40552E-5 41571 0 1.71271E-5
17-4098694-G-A c.1172+4C>T splice_region ANKFY1 16 83344 1.91975E-4 41672 0 7.01173E-4
17-4098709-C-T p.Leu387Leu synonymous ANKFY1 2 83362 2.39917E-5 41681 0 3.18512E-5
17-4098712-C-T p.Leu386Leu synonymous ANKFY1 1 83362 1.19959E-5 41681 0 NA
17-4098727-A-G p.Tyr381Tyr synonymous ANKFY1 8 83360 9.59693E-5 41680 0 1.91156E-4
17-4098738-C-T p.Gly378Arg missense ANKFY1 1 83340 1.1999E-5 41670 0 3.18695E-5
17-4098745-G-A p.Ile375Ile synonymous ANKFY1 1 83328 1.20008E-5 41664 0 3.18613E-5
17-4098747-T-C p.Ile375Val missense ANKFY1 309 83316 0.00370877 41658 1 0.00414356
17-4098748-G-A p.Ser374Ser synonymous ANKFY1 46 83320 5.52088E-4 41660 0 0.00128624
17-4098754-A-G p.His372His synonymous ANKFY1 1 83316 1.20025E-5 41658 0 3.60643E-5
17-4098765-T-TCCTCCCCTTGCTGTCCTGCATGTTGGGGTTGGCACCAG p.Thr369fs frameshift ANKFY1 1 83280 1.20077E-5 41640 0 NA
17-4098768-T-TCCCCTTGCTGTCCTGCATGTTGGGGTTGGCACCA c.1104-3_1104-2insTGGTGCCAACCCCAACATGCAGGACAGCAAGGGG splice_region ANKFY1 1 83264 1.201E-5 41632 0 NA
17-4098771-G-A c.1104-5C>T splice_region ANKFY1 13 83186 1.56276E-4 41593 0 2.86935E-4
17-4100669-T-A p.Arg368Trp missense+splice_region ANKFY1 2 82886 2.41295E-5 41443 0 8.28775E-6
17-4100693-G-A p.Pro360Ser missense ANKFY1 1 83252 1.20117E-5 41626 0 NA
17-4100717-C-T p.Ala352Thr missense ANKFY1 1 83310 1.20034E-5 41655 0 4.00692E-6
17-4100730-C-T p.Ala347Ala synonymous ANKFY1 1 83326 1.20011E-5 41663 0 1.20209E-5
17-4100731-G-A p.Ala347Val missense ANKFY1 2 83322 2.40033E-5 41661 0 4.00708E-6
17-4100743-A-T p.Met343Lys missense ANKFY1 1 83346 1.19982E-5 41673 0 8.01359E-6
17-4100743-A-G p.Met343Thr missense ANKFY1 2 83346 2.39964E-5 41673 0 1.20204E-5
17-4100749-T-C p.Asp341Gly missense ANKFY1 2 83354 2.3994E-5 41677 0 8.01372E-6
17-4100771-T-G p.Ser334Arg missense ANKFY1 1 83370 1.19947E-5 41685 0 NA
17-4100775-C-T p.Leu332Leu synonymous ANKFY1 1 83364 1.19956E-5 41682 0 NA
17-4100795-G-C p.Pro326Ala missense ANKFY1 1 83368 1.1995E-5 41684 0 NA
17-4100801-C-T p.Glu324Lys missense ANKFY1 1 83372 1.19944E-5 41686 0 1.60278E-5
17-4100818-G-A p.Ala318Val missense ANKFY1 1 83364 1.19956E-5 41682 0 NA
17-4100823-G-A p.Asn316Asn synonymous ANKFY1 1 83370 1.19947E-5 41685 0 1.66055E-5
17-4100824-T-C p.Asn316Ser missense ANKFY1 3 83374 3.59824E-5 41687 0 3.32071E-5
17-4100824-T-A p.Asn316Ile missense ANKFY1 1 83374 1.19941E-5 41687 0 NA
17-4100826-G-C p.Val315Val synonymous ANKFY1 1 83366 1.19953E-5 41683 0 NA
17-4100846-T-C p.Ile309Val missense ANKFY1 1 83348 1.19979E-5 41674 0 NA
17-4100858-C-G p.Ala305Pro missense ANKFY1 3 83320 3.60058E-5 41660 0 6.36943E-5
17-4100869-TCTC-T p.Gly300del disruptive_inframe_deletion ANKFY1 1 83290 1.20062E-5 41645 0 4.01771E-6
17-4100871-T-G p.Gly300Gly splice_region+synonymous ANKFY1 3 83274 3.60256E-5 41637 0 NA
17-4100871-T-C p.Gly300Gly splice_region+synonymous ANKFY1 1 83274 1.20085E-5 41637 0 NA
17-4109638-C-A p.Leu292Phe missense ANKFY1 1 83388 1.19921E-5 41694 0 NA
17-4109656-G-A p.Asp286Asp synonymous ANKFY1 2 83402 2.39802E-5 41701 0 NA
17-4109659-C-T p.Val285Val synonymous ANKFY1 4 83404 4.79593E-5 41702 0 9.5511E-5
17-4109661-C-T p.Val285Met missense ANKFY1 1 83400 1.19904E-5 41700 0 2.48464E-5
17-4109665-G-A p.Asp283Asp synonymous ANKFY1 1 83402 1.19901E-5 41701 0 NA
17-4109686-A-G p.Val276Val synonymous ANKFY1 14 83404 1.67858E-4 41702 0 0.00100705
17-4109694-T-C p.Thr274Ala missense ANKFY1 1 83402 1.19901E-5 41701 0 NA
17-4109714-C-T p.Arg267Gln missense ANKFY1 1 83398 1.19907E-5 41699 0 1.65637E-5
17-4109718-G-T p.Arg266Arg synonymous ANKFY1 46 83396 5.51585E-4 41698 0 5.03525E-4
17-4109722-G-A p.Leu264Leu synonymous ANKFY1 4747 83340 0.0569594 41670 418 0.0943474
17-4109724-G-A p.Leu264Phe missense ANKFY1 1 83400 1.19904E-5 41700 0 NA
17-4109728-T-G p.Leu262Leu synonymous ANKFY1 6 83394 7.19476E-5 41697 0 6.36902E-5
17-4109737-T-C p.Ala259Ala synonymous ANKFY1 8 83398 9.59256E-5 41699 0 0.003125
17-4109742-G-A p.Leu258Leu synonymous ANKFY1 3 83402 3.59704E-5 41701 0 8.01417E-6
17-4109748-C-T p.Gly256Arg missense ANKFY1 1 83386 1.19924E-5 41693 0 5.03525E-4
17-4109749-G-A p.Asn255Asn synonymous ANKFY1 1 83386 1.19924E-5 41693 0 1.65689E-5
17-4109754-G-A p.His254Tyr missense ANKFY1 1 83384 1.19927E-5 41692 0 NA
17-4109758-C-T p.Ala252Ala synonymous ANKFY1 3 83378 3.59807E-5 41689 0 8.28528E-6
17-4109759-G-A p.Ala252Val missense ANKFY1 2 83378 2.39871E-5 41689 0 9.55657E-5
17-4109761-T-A p.Glu251Asp missense ANKFY1 17 83378 2.03891E-4 41689 0 8.0179E-5
17-4109765-T-C p.Asn250Ser missense ANKFY1 1 83382 1.1993E-5 41691 0 8.28775E-6
17-4109776-A-G p.Pro246Pro synonymous ANKFY1 7 83364 8.39691E-5 41682 0 8.02021E-5
17-4109778-G-A p.Pro246Ser missense ANKFY1 1 83350 1.19976E-5 41675 0 NA
17-4109784-A-G c.733-3T>C splice_region ANKFY1 8 83332 9.60015E-5 41666 0 9.12545E-5
17-4109787-C-T c.733-6G>A splice_region ANKFY1 2 83326 2.40021E-5 41663 0 1.20555E-5
17-4111244-A-G p.Ile239Thr missense ANKFY1 1 82756 1.20837E-5 41378 0 NA
17-4111246-C-A p.Leu238Leu synonymous ANKFY1 1 82742 1.20858E-5 41371 0 NA
17-4111252-C-T p.Leu236Leu synonymous ANKFY1 1 83006 1.20473E-5 41503 0 4.149E-6
17-4111263-C-A p.Val233Leu missense ANKFY1 1 83078 1.20369E-5 41539 0 NA
17-4111264-G-A p.Asp232Asp synonymous ANKFY1 3 83086 3.61072E-5 41543 0 1.66681E-5
17-4111274-T-A p.Glu229Val missense ANKFY1 1 83126 1.20299E-5 41563 0 NA
17-4111298-G-A p.Pro221Leu missense ANKFY1 4 83150 4.81058E-5 41575 0 8.10991E-6
17-4111300-G-A p.Tyr220Tyr synonymous ANKFY1 1 83150 1.20265E-5 41575 0 4.05321E-6
17-4111325-T-C p.Lys212Arg missense ANKFY1 13 83110 1.56419E-4 41555 0 2.54728E-4
17-4111327-G-A p.Tyr211Tyr synonymous ANKFY1 1 83100 1.20337E-5 41550 0 8.30427E-6
17-4111332-A-G p.Leu210Leu synonymous ANKFY1 3 83044 3.61254E-5 41522 0 3.32364E-5
17-4111373-T-C p.Asp196Gly missense ANKFY1 1 82738 1.20863E-5 41369 0 NA
17-4113112-C-T c.582+7G>A splice_region ANKFY1 22 83300 2.64106E-4 41650 0 0.00101455
17-4113146-G-A p.Tyr185Tyr synonymous ANKFY1 3 83358 3.59893E-5 41679 0 1.2738E-4
17-4113150-T-C p.Asn184Ser missense ANKFY1 15 83360 1.79942E-4 41680 0 3.50318E-4
17-4113158-T-C p.Thr181Thr synonymous ANKFY1 6 83352 7.19839E-5 41676 0 NA
17-4113182-C-T p.Thr173Thr synonymous ANKFY1 1 83336 1.19996E-5 41668 0 8.28363E-6
17-4113191-G-A p.Phe170Phe synonymous ANKFY1 2 83312 2.40061E-5 41656 0 8.28528E-6
17-4113196-G-A p.Arg169Cys missense ANKFY1 1 83300 1.20048E-5 41650 0 2.00428E-5
17-4113204-T-C p.Asn166Ser missense ANKFY1 5 83288 6.00327E-5 41644 0 8.2894E-6
17-4113214-T-A p.Asn163Tyr missense ANKFY1 1 83240 1.20135E-5 41620 0 NA
17-4113217-C-T p.Val162Met missense ANKFY1 3 83230 3.60447E-5 41615 0 5.03525E-4
17-4113220-G-A p.Leu161Leu synonymous ANKFY1 1 83224 1.20158E-5 41612 0 8.01892E-6
17-4113226-T-G p.Met159Leu missense ANKFY1 1 83186 1.20213E-5 41593 0 3.18431E-5
17-4120271-G-C c.458+7C>G splice_region ANKFY1 2 83232 2.40292E-5 41616 0 NA
17-4120285-T-C p.Arg151Gly missense ANKFY1 1 83270 1.20091E-5 41635 0 NA
17-4120305-C-T p.Arg144Gln missense ANKFY1 1 83258 1.20109E-5 41629 0 8.35506E-6
17-4120308-T-C p.Asn143Ser missense ANKFY1 1 83260 1.20106E-5 41630 0 4.00853E-6
17-4120319-C-T p.Met139Ile missense ANKFY1 1 83264 1.201E-5 41632 0 NA
17-4120337-C-T p.Val133Val synonymous ANKFY1 1 83256 1.20111E-5 41628 0 4.00821E-6
17-4120358-C-T p.Leu126Leu synonymous ANKFY1 1 83236 1.2014E-5 41618 0 NA
17-4120360-G-C p.Leu126Val missense ANKFY1 1 83222 1.20161E-5 41611 0 NA
17-4120380-C-T p.Arg119His missense ANKFY1 10 83158 1.20253E-4 41579 0 0.00700726
17-4120387-T-C p.Met117Val missense ANKFY1 1 83076 1.20372E-5 41538 0 3.18451E-5
17-4120394-C-T p.Thr114Thr synonymous ANKFY1 4 82988 4.81997E-5 41494 0 8.29573E-6
17-4120395-G-A p.Thr114Met missense ANKFY1 7 82940 8.43984E-5 41470 0 1.16138E-4
17-4120397-C-T p.Val113Val synonymous ANKFY1 1 82904 1.20621E-5 41452 0 3.20703E-5
17-4120406-A-C p.Asn110Lys missense ANKFY1 1 82752 1.20843E-5 41376 0 3.18471E-5
17-4139069-G-A p.Ser107Leu missense+splice_region ANKFY1 1 83146 1.2027E-5 41573 0 NA
17-4139073-G-C p.Leu106Val missense ANKFY1 1 83178 1.20224E-5 41589 0 NA
17-4139089-G-A p.Ser100Ser synonymous ANKFY1 19 83236 2.28267E-4 41618 0 7.32204E-4
17-4139105-A-G p.Leu95Pro missense ANKFY1 2 83268 2.40188E-5 41634 0 1.65637E-5
17-4139123-C-T p.Arg89His missense ANKFY1 1 83266 1.20097E-5 41633 0 4.00798E-6
17-4139124-G-A p.Arg89Cys missense ANKFY1 1 83252 1.20117E-5 41626 0 4.14113E-5
17-4139131-C-G p.Leu86Leu synonymous ANKFY1 3 83268 3.60282E-5 41634 0 8.28295E-6
17-4139151-T-C p.Ser80Gly missense ANKFY1 1 83262 1.20103E-5 41631 0 2.48542E-5
17-4139154-T-C p.Ile79Val missense ANKFY1 6 83268 7.20565E-5 41634 0 NA
17-4139160-T-C p.Arg77Gly missense ANKFY1 2 83252 2.40234E-5 41626 0 8.28803E-6
17-4139176-C-T p.Lys71Lys synonymous ANKFY1 8 83218 9.61331E-5 41609 0 3.07207E-4
17-4139185-G-A p.Ser68Ser splice_region+synonymous ANKFY1 27 83108 3.24878E-4 41554 0 1.90998E-4
17-4139188-G-GTACTGCTCCTGCTCGTAGAGGTCTGCCACGATGGCC c.204-4_204-3insGGCCATCGTGGCAGACCTCTACGAGCAGGAGCAGTA splice_region ANKFY1 4 83104 4.81325E-5 41552 2 NA
17-4145543-TC-AT c.203+7_203+8delGAinsAT splice_region ANKFY1 1 81736 1.22345E-5 40868 0 NA
17-4145550-C-T c.203+1G>A splice_donor ANKFY1 1 82082 1.21829E-5 41041 0 NA
17-4145557-T-C p.Gln66Arg missense ANKFY1 3 82276 3.64626E-5 41138 0 4.59196E-6
17-4145563-T-C p.Gln64Arg missense ANKFY1 2 82388 2.42754E-5 41194 0 4.49345E-6
17-4145568-G-A p.Tyr62Tyr synonymous ANKFY1 3 82476 3.63742E-5 41238 0 9.55536E-5
17-4145577-T-C p.Ala59Ala synonymous ANKFY1 2 82616 2.42084E-5 41308 0 6.09167E-5
17-4145583-G-A p.Ile57Ile synonymous ANKFY1 1 82728 1.20878E-5 41364 0 1.67977E-4
17-4145586-G-A p.Ala56Ala synonymous ANKFY1 1 82786 1.20793E-5 41393 0 NA
17-4145596-C-T p.Arg53His missense ANKFY1 1 82894 1.20636E-5 41447 0 3.35154E-5
17-4145612-C-T p.Glu48Lys missense ANKFY1 2 83050 2.40819E-5 41525 0 6.37146E-5
17-4145613-G-T p.Ser47Arg missense ANKFY1 1 83068 1.20383E-5 41534 0 4.31198E-6
17-4145624-CCTT-C p.Lys43del conservative_inframe_deletion ANKFY1 1 83120 1.20308E-5 41560 0 3.18471E-5
17-4145627-T-C p.Lys43Glu missense ANKFY1 1 83126 1.20299E-5 41563 0 NA
17-4145634-C-T p.Gln40Gln synonymous ANKFY1 2 83090 2.40703E-5 41545 0 NA
17-4145637-C-T p.Ala39Ala synonymous ANKFY1 7 83064 8.42724E-5 41532 0 6.67022E-5
17-4145638-G-A p.Ala39Val missense ANKFY1 3 83050 3.61228E-5 41525 0 3.18512E-5
17-4145640-A-C p.Ala38Ala synonymous ANKFY1 2 83080 2.40732E-5 41540 0 NA
17-4145642-C-T p.Ala38Thr missense ANKFY1 2 83088 2.40709E-5 41544 0 NA
17-4145647-A-G p.Leu36Pro missense ANKFY1 1 83078 1.20369E-5 41539 0 8.33722E-6
17-4145648-G-C p.Leu36Val missense ANKFY1 2 83064 2.40778E-5 41532 0 NA
17-4145651-C-T p.Ala35Thr missense ANKFY1 2 83018 2.40912E-5 41509 0 1.67555E-5
17-4145652-G-A p.Cys34Cys synonymous ANKFY1 2 83004 2.40952E-5 41502 0 6.37024E-5
17-4145670-C-T p.Ala28Ala synonymous ANKFY1 8 83024 9.63577E-5 41512 0 4.17564E-5
17-4145671-G-A p.Ala28Val missense ANKFY1 1 82998 1.20485E-5 41499 0 8.38012E-6
17-4145691-G-C p.Val21Val synonymous ANKFY1 1 82956 1.20546E-5 41478 0 NA
17-4145704-C-T p.Arg17Gln missense ANKFY1 1 82916 1.20604E-5 41458 0 NA
17-4145714-T-G p.Met14Leu missense ANKFY1 1 82870 1.20671E-5 41435 0 2.57091E-4
17-4145721-C-A p.Lys11Asn missense ANKFY1 38 82794 4.5897E-4 41397 0 3.10543E-4
17-4145739-C-A p.Glu5Asp missense ANKFY1 1 82562 1.21121E-5 41281 0 NA
17-4145747-C-T c.11-4G>A splice_region ANKFY1 1 82410 1.21345E-5 41205 0 NA
17-4166883-G-A c.136+7C>T splice_region ANKFY1 12 49986 2.40067E-4 24993 0 2.33838E-4
17-4166884-GCTT-G c.136+3_136+5delAAG splice_region ANKFY1 44 50284 8.7503E-4 25142 0 0.0011803
17-4166884-G-A c.136+6C>T splice_region ANKFY1 1 50284 1.9887E-5 25142 0 7.79496E-6
17-4166889-C-T c.136+1G>A splice_donor ANKFY1 1 51626 1.93701E-5 25813 0 7.79083E-6
17-4166892-C-T p.Gly45Glu missense+splice_region ANKFY1 1 52332 1.91088E-5 26166 0 1.55907E-5
17-4166898-G-A p.Ala43Val missense ANKFY1 4 53370 7.49485E-5 26685 0 NA
17-4166914-G-A p.Arg38Trp missense ANKFY1 2 55724 3.58912E-5 27862 0 9.30233E-5
17-4166926-C-T p.Ala34Thr missense ANKFY1 1 57046 1.75297E-5 28523 0 NA
17-4166930-C-A p.Arg32Arg synonymous ANKFY1 10 57516 1.73865E-4 28758 0 7.01262E-4
17-4166932-G-A p.Arg32Trp missense ANKFY1 1 57454 1.74052E-5 28727 0 1.55872E-5
17-4166943-G-C p.Pro28Arg missense ANKFY1 1 58138 1.72005E-5 29069 0 NA
17-4166953-G-A p.Arg25Cys missense ANKFY1 1 58582 1.70701E-5 29291 0 3.19183E-5
17-4166972-G-A p.Arg18Arg synonymous ANKFY1 3 58922 5.09148E-5 29461 0 1.59464E-5
17-4166979-C-T p.Arg16Lys missense ANKFY1 1 59736 1.67403E-5 29868 0 3.31983E-5
17-4166984-A-T p.Ala14Ala synonymous ANKFY1 2 60202 3.32215E-5 30101 0 2.6261E-5
17-4166991-C-A p.Ser12Ile missense ANKFY1 98 60332 0.00162435 30166 0 0.00322478
17-4166994-C-T p.Arg11Gln missense ANKFY1 1 60566 1.65109E-5 30283 0 4.30737E-5
17-4167016-G-A p.Pro4Ser missense ANKFY1 1 62234 1.60684E-5 31117 0 3.19448E-5
17-4167017-G-C p.Thr3Thr synonymous ANKFY1 1 62390 1.60282E-5 31195 0 NA
17-4167018-G-T p.Thr3Asn missense ANKFY1 1 62432 1.60174E-5 31216 0 NA
17-4167060-G-A c.-35C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 1 71656 1.39556E-5 35828 0 NA
17-4167096-G-A c.-71C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 3 76616 3.91563E-5 38308 0 NA
17-4167107-G-A c.-82C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 6 76894 7.80295E-5 38447 0 NA
17-4167126-T-G c.-101A>C 5_prime_UTR_premature_start_codon_gain ANKFY1 4 78602 5.08893E-5 39301 0 6.38121E-5
17-4167219-A-G c.10+8T>C splice_region ANKFY1 1 81732 1.22351E-5 40866 0 NA
17-4167219-A-C c.10+8T>G splice_region ANKFY1 5 81732 6.11755E-5 40866 0 6.25E-4
17-4167221-C-T c.10+6G>A splice_region ANKFY1 1 81756 1.22315E-5 40878 0 4.02385E-6
17-4167223-C-T c.10+4G>A splice_region ANKFY1 1 81830 1.22205E-5 40915 0 4.02298E-6
17-4167231-C-T p.Ala2Ala synonymous ANKFY1 1 81894 1.22109E-5 40947 0 1.00539E-4
17-4167236-T-G p.Met1? initiator_codon ANKFY1 1 81954 1.2202E-5 40977 0 NA
17-4167246-G-A c.-10C>T 5_prime_UTR_premature_start_codon_gain ANKFY1 1 81930 1.22055E-5 40965 0 8.39997E-6



Copyright © 2020 Institute for Genomic Medicine. All rights reserved.