Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-110437401-C-T c.-93C>T 5_prime_UTR_premature_start_codon_gain ANKRD13A 1 43726 2.28697E-5 21863 0 3.21812E-5
12-110437405-G-T c.-89G>T 5_prime_UTR_premature_start_codon_gain ANKRD13A 2 44912 4.45315E-5 22456 0 NA
12-110437501-C-G p.Ser3Trp missense ANKRD13A 1 75042 1.33259E-5 37521 0 NA
12-110437507-G-C p.Cys5Ser missense ANKRD13A 1 75486 1.32475E-5 37743 0 NA
12-110437516-G-A p.Gly8Asp missense ANKRD13A 1 75960 1.31648E-5 37980 0 NA
12-110437517-C-T p.Gly8Gly synonymous ANKRD13A 22 75860 2.90008E-4 37930 0 4.55373E-4
12-110437521-C-A p.His10Asn missense ANKRD13A 1 76262 1.31127E-5 38131 0 6.47165E-5
12-110437558-A-G p.Tyr22Cys missense ANKRD13A 1 76152 1.31316E-5 38076 0 NA
12-110437560-C-G p.Arg23Gly missense ANKRD13A 2 76168 2.62577E-5 38084 0 6.25782E-4
12-110437560-C-T p.Arg23Trp missense ANKRD13A 1 76170 1.31285E-5 38085 0 NA
12-110437561-G-A p.Arg23Gln missense ANKRD13A 1 76104 1.31399E-5 38052 0 NA
12-110437563-C-A p.Gln24Lys missense ANKRD13A 1 76048 1.31496E-5 38024 0 NA
12-110437568-C-G p.Leu25Leu synonymous ANKRD13A 1 75630 1.32223E-5 37815 0 1.52931E-5
12-110437587-C-G p.Gln32Glu missense+splice_region ANKRD13A 2 74428 2.68716E-5 37214 0 NA
12-110437590-G-A c.96+1G>A splice_donor ANKRD13A 2 74152 2.69716E-5 37076 0 NA
12-110437597-G-A c.96+8G>A splice_region ANKRD13A 2 73012 2.73928E-5 36506 0 3.87441E-5
12-110449810-A-C p.Asn33His missense+splice_region ANKRD13A 1 83120 1.20308E-5 41560 0 3.1837E-5
12-110449817-A-T p.Glu35Val missense ANKRD13A 1 83196 1.20198E-5 41598 0 NA
12-110449832-G-A p.Arg40Gln missense ANKRD13A 5 83300 6.0024E-5 41650 0 6.59261E-5
12-110449837-C-G p.Arg42Gly missense ANKRD13A 3 83322 3.60049E-5 41661 0 8.24035E-6
12-110449838-G-A p.Arg42Gln missense ANKRD13A 18 83314 2.1605E-4 41657 0 8.35143E-5
12-110449870-C-A p.His53Asn missense ANKRD13A 2 83372 2.39889E-5 41686 0 NA
12-110449886-G-A p.Arg58Gln missense ANKRD13A 1 83374 1.19941E-5 41687 0 7.43666E-5
12-110449911-T-C p.Asp66Asp synonymous ANKRD13A 1 83358 1.19964E-5 41679 0 3.18512E-5
12-110449913-T-C p.Val67Ala missense ANKRD13A 1 83356 1.19967E-5 41678 0 NA
12-110449918-A-G p.Lys69Glu missense ANKRD13A 1 83360 1.19962E-5 41680 0 3.97874E-6
12-110449928-G-A p.Arg72His missense ANKRD13A 2 83326 2.40021E-5 41663 0 2.62128E-5
12-110449933-G-A p.Gly74Arg missense ANKRD13A 1 83312 1.20031E-5 41656 0 3.18756E-5
12-110449946-A-G c.229+4A>G splice_region ANKRD13A 2 83258 2.40217E-5 41629 0 NA
12-110450936-A-C p.His79Pro missense ANKRD13A 2 83380 2.39866E-5 41690 0 8.25232E-6
12-110450955-C-T p.Gly85Gly synonymous ANKRD13A 1 83386 1.19924E-5 41693 0 8.24253E-6
12-110450970-G-A p.Val90Val synonymous ANKRD13A 1 83402 1.19901E-5 41701 0 NA
12-110450971-T-A p.Tyr91Asn missense ANKRD13A 20 83400 2.39808E-4 41700 0 2.54696E-4
12-110450975-C-T p.Thr92Ile missense ANKRD13A 3 83396 3.59729E-5 41698 0 7.95323E-6
12-110450975-C-A p.Thr92Lys missense ANKRD13A 1 83396 1.1991E-5 41698 0 NA
12-110450980-C-G p.Leu94Val missense ANKRD13A 2 83398 2.39814E-5 41699 0 2.78359E-5
12-110450985-A-G p.Gln95Gln synonymous ANKRD13A 3 83400 3.59712E-5 41700 0 5.56713E-5
12-110450986-C-T p.His96Tyr missense ANKRD13A 1 83402 1.19901E-5 41701 0 8.23845E-6
12-110451004-A-G p.Thr102Ala missense ANKRD13A 2 83412 2.39774E-5 41706 0 5.16948E-5
12-110451010-A-G p.Met104Val missense ANKRD13A 1 83406 1.19895E-5 41703 0 7.95286E-6
12-110451033-G-C p.Glu111Asp missense ANKRD13A 1 83386 1.19924E-5 41693 0 3.97795E-6
12-110451036-G-A p.Leu112Leu synonymous ANKRD13A 5 83382 5.9965E-5 41691 0 6.37674E-5
12-110451049-C-T p.Leu117Phe missense ANKRD13A 1 83366 1.19953E-5 41683 0 1.9911E-5
12-110451051-C-T p.Leu117Leu synonymous ANKRD13A 2 83356 2.39935E-5 41678 0 3.18431E-5
12-110451052-G-A p.Glu118Lys missense+splice_region ANKRD13A 5 83362 5.99794E-5 41681 0 9.06394E-5
12-110454187-C-T c.355-6C>T splice_region ANKRD13A 34 82136 4.13948E-4 41068 0 0.0025
12-110454197-C-T p.Pro120Leu missense ANKRD13A 2 82132 2.4351E-5 41066 0 8.24008E-6
12-110454198-G-A p.Pro120Pro synonymous ANKRD13A 3 82158 3.6515E-5 41079 0 6.25E-4
12-110456143-C-T c.401-7C>T splice_region ANKRD13A 2 83230 2.40298E-5 41615 0 2.47333E-5
12-110456146-C-A c.401-4C>A splice_region ANKRD13A 3 83244 3.60386E-5 41622 0 8.24253E-6
12-110456148-A-AGCTGG c.401-2_401-1insGCTGG splice_acceptor ANKRD13A 1 83252 1.20117E-5 41626 0 NA
12-110456175-A-G p.Pro142Pro synonymous ANKRD13A 18246 83036 0.219736 41518 2764 0.27873
12-110456176-A-T p.Asn143Tyr missense ANKRD13A 1 83360 1.19962E-5 41680 0 NA
12-110456179-G-A p.Asp144Asn missense ANKRD13A 1 83360 1.19962E-5 41680 0 8.2371E-6
12-110456191-A-G p.Ile148Val missense ANKRD13A 1 83354 1.1997E-5 41677 0 3.18471E-5
12-110456201-G-A p.Ser151Asn missense ANKRD13A 10 83364 1.19956E-4 41682 0 5.6836E-4
12-110456212-C-T p.Leu155Leu synonymous ANKRD13A 3 83370 3.59842E-5 41685 0 3.29489E-5
12-110456215-C-T p.Arg156Cys missense ANKRD13A 2 83358 2.39929E-5 41679 0 1.64747E-5
12-110456216-G-A p.Arg156His missense ANKRD13A 2 83364 2.39912E-5 41682 0 1.19299E-5
12-110456217-C-T p.Arg156Arg synonymous ANKRD13A 2 83364 2.39912E-5 41682 0 1.98834E-5
12-110456218-G-A p.Val157Ile missense ANKRD13A 4 83372 4.79777E-5 41686 0 3.69834E-4
12-110456220-C-T p.Val157Val synonymous ANKRD13A 1 83372 1.19944E-5 41686 0 1.59065E-5
12-110456221-G-A p.Asp158Asn missense ANKRD13A 1 83370 1.19947E-5 41685 0 3.97668E-6
12-110456229-A-G p.Thr160Thr synonymous ANKRD13A 2 83378 2.39871E-5 41689 0 1.19298E-5
12-110456248-A-G p.Met167Val missense ANKRD13A 1 83362 1.19959E-5 41681 0 4.94275E-5
12-110456259-A-G p.Ile170Met missense ANKRD13A 1 83354 1.1997E-5 41677 0 8.23886E-6
12-110456265-G-A p.Gly172Gly synonymous ANKRD13A 1 83336 1.19996E-5 41668 0 NA
12-110456268-G-T p.Arg173Ser missense ANKRD13A 1 83332 1.20002E-5 41666 0 NA
12-110456279-T-C p.Ile177Thr missense ANKRD13A 22 83312 2.64068E-4 41656 0 4.4569E-4
12-110456292-A-G p.Glu181Glu splice_region+synonymous ANKRD13A 1 83242 1.20132E-5 41621 0 NA
12-110456294-G-C c.544+1G>C splice_donor ANKRD13A 2 83204 2.40373E-5 41602 0 3.9875E-6
12-110456947-A-G p.Asn183Ser missense ANKRD13A 1 83042 1.20421E-5 41521 0 1.68387E-5
12-110456953-C-T p.Ala185Val missense ANKRD13A 1 83110 1.20322E-5 41555 0 6.37105E-5
12-110456981-C-G p.Asp194Glu missense ANKRD13A 1 83254 1.20114E-5 41627 0 4.02149E-6
12-110456983-A-G p.Lys195Arg missense ANKRD13A 1 83252 1.20117E-5 41626 0 3.18573E-5
12-110456995-C-T p.Thr199Ile missense ANKRD13A 1 83340 1.1999E-5 41670 0 8.24429E-6
12-110456996-C-T p.Thr199Thr synonymous ANKRD13A 1 83334 1.19999E-5 41667 0 4.94609E-5
12-110456997-G-A p.Glu200Lys missense ANKRD13A 1 83346 1.19982E-5 41673 0 3.18471E-5
12-110457005-C-T p.Phe202Phe synonymous ANKRD13A 1 83352 1.19973E-5 41676 0 3.2962E-5
12-110457011-T-C p.Leu204Leu synonymous ANKRD13A 6 83352 7.19839E-5 41676 0 8.23927E-6
12-110457027-C-T p.Arg210Cys missense ANKRD13A 1 83344 1.19985E-5 41672 0 1.64794E-5
12-110457042-T-TTCA p.Leu215delinsPheMet disruptive_inframe_insertion ANKRD13A 2 83330 2.4001E-5 41665 0 3.97791E-6
12-110457043-T-C p.Leu215Ser missense ANKRD13A 1 83322 1.20016E-5 41661 0 1.64804E-5
12-110457048-A-C p.Lys217Gln missense ANKRD13A 1 83316 1.20025E-5 41658 0 NA
12-110457057-A-G p.Ser220Gly missense ANKRD13A 5 83276 6.00413E-5 41638 0 3.29663E-5
12-110457069-G-C p.Glu224Gln missense ANKRD13A 2 83206 2.40367E-5 41603 0 NA
12-110457072-C-T p.Arg225Trp missense ANKRD13A 6 83170 7.21414E-5 41585 0 3.87622E-4
12-110457073-G-A p.Arg225Gln missense ANKRD13A 5 83158 6.01265E-5 41579 0 5.03525E-4
12-110457085-G-A p.Ser229Asn missense ANKRD13A 4 83038 4.81707E-5 41519 0 6.60273E-5
12-110457100-C-T p.Thr234Ile missense ANKRD13A 1 82874 1.20665E-5 41437 0 NA
12-110457110-T-A p.Asp237Glu missense ANKRD13A 2 82656 2.41967E-5 41328 0 8.32473E-6
12-110457112-C-T p.Thr238Ile missense ANKRD13A 1 82626 1.21027E-5 41313 0 4.10209E-6
12-110457118-A-G p.Asn240Ser missense ANKRD13A 1 82516 1.21189E-5 41258 0 1.67594E-5
12-110457136-A-G c.734+3A>G splice_region ANKRD13A 2 82140 2.43487E-5 41070 0 NA
12-110458926-C-T p.Leu162Phe missense ANKRD13A 1 52604 1.901E-5 26302 0 6.78334E-5
12-110458942-T-C p.Leu167Ser missense ANKRD13A 22 52608 4.18187E-4 26304 0 6.25E-4
12-110461860-C-T p.Ser248Ser synonymous ANKRD13A 3 83218 3.60499E-5 41609 0 4.94821E-5
12-110461867-T-C p.Trp251Arg missense ANKRD13A 1 83240 1.20135E-5 41620 0 NA
12-110461897-G-A p.Val261Ile missense ANKRD13A 10 83210 1.20178E-4 41605 0 0.00100705
12-110461908-C-T p.Tyr264Tyr synonymous ANKRD13A 6 83134 7.21726E-5 41567 0 3.18512E-5
12-110461909-G-A p.Glu265Lys missense ANKRD13A 4 83120 4.81232E-5 41560 0 8.30082E-6
12-110463562-A-G p.Asn273Asp missense ANKRD13A 1 83170 1.20236E-5 41585 0 NA
12-110463564-T-C p.Asn273Asn synonymous ANKRD13A 1 83164 1.20244E-5 41582 0 8.24266E-6
12-110463586-C-T p.Arg281Cys missense ANKRD13A 2 83210 2.40356E-5 41605 0 3.18776E-5
12-110463595-C-T p.His284Tyr missense ANKRD13A 2 83230 2.40298E-5 41615 0 NA
12-110463604-G-A p.Glu287Lys missense ANKRD13A 3 83198 3.60586E-5 41599 0 1.99248E-5
12-110463610-GA-G p.Lys291fs frameshift ANKRD13A 1 83188 1.2021E-5 41594 0 NA
12-110463623-A-T p.Tyr293Phe missense ANKRD13A 1 83158 1.20253E-5 41579 0 NA
12-110463629-G-A c.883+1G>A splice_donor ANKRD13A 1 83110 1.20322E-5 41555 0 NA
12-110463631-A-C c.883+3A>C splice_region ANKRD13A 2 83088 2.40709E-5 41544 0 NA
12-110463633-T-G c.883+5T>G splice_region ANKRD13A 1 83096 1.20343E-5 41548 0 3.30344E-5
12-110465520-C-T p.Asn298Asn synonymous ANKRD13A 1 83204 1.20187E-5 41602 0 NA
12-110465523-G-C p.Pro299Pro synonymous ANKRD13A 1 83192 1.20204E-5 41596 0 3.97753E-6
12-110465553-C-T p.His309His synonymous ANKRD13A 2 83174 2.4046E-5 41587 0 1.65101E-5
12-110465556-A-G p.Gln310Gln synonymous ANKRD13A 16 83154 1.92414E-4 41577 0 2.22944E-4
12-110466325-C-T p.Thr318Thr synonymous ANKRD13A 1 83240 1.20135E-5 41620 0 3.18552E-5
12-110466328-G-A p.Thr319Thr synonymous ANKRD13A 34 83234 4.08487E-4 41617 1 0.00100705
12-110466338-A-G p.Thr323Ala missense ANKRD13A 2 83256 2.40223E-5 41628 0 2.78498E-5
12-110466339-C-T p.Thr323Ile missense ANKRD13A 2 83258 2.40217E-5 41629 0 3.18329E-5
12-110466340-T-C p.Thr323Thr synonymous ANKRD13A 5 83258 6.00543E-5 41629 0 2.78505E-5
12-110466342-C-T p.Ala324Val missense ANKRD13A 1 83260 1.20106E-5 41630 0 NA
12-110466348-A-G p.Asn326Ser missense ANKRD13A 2 83276 2.40165E-5 41638 0 NA
12-110466363-C-T p.Thr331Met missense ANKRD13A 4 83296 4.80215E-5 41648 0 6.36902E-5
12-110466381-A-G p.Asn337Ser missense ANKRD13A 41 83314 4.92114E-4 41657 0 0.00124204
12-110466385-A-C p.Glu338Asp missense ANKRD13A 1 83320 1.20019E-5 41660 0 NA
12-110466389-T-C p.Phe340Leu missense ANKRD13A 2 83322 2.40033E-5 41661 0 1.19312E-5
12-110466401-G-A p.Asp344Asn missense ANKRD13A 3 83336 3.59988E-5 41668 0 1.64737E-5
12-110466403-CAG-C p.Arg345fs frameshift ANKRD13A 1 83336 1.19996E-5 41668 0 NA
12-110466404-A-G p.Arg345Gly missense ANKRD13A 1 83338 1.19993E-5 41669 0 6.36699E-5
12-110466411-T-C p.Ile347Thr missense ANKRD13A 1 83326 1.20011E-5 41663 0 8.2375E-6
12-110466421-G-C p.Pro350Pro synonymous ANKRD13A 1 83328 1.20008E-5 41664 0 NA
12-110466421-G-A p.Pro350Pro synonymous ANKRD13A 2 83328 2.40015E-5 41664 0 3.18431E-5
12-110466444-A-G p.Gln358Arg missense ANKRD13A 1 83316 1.20025E-5 41658 0 2.47239E-5
12-110467278-T-G c.1077-5T>G splice_region ANKRD13A 1 83312 1.20031E-5 41656 0 7.96109E-6
12-110467298-G-A p.Leu364Leu synonymous ANKRD13A 1 83356 1.19967E-5 41678 0 3.97706E-6
12-110467325-T-C p.Ser373Ser synonymous ANKRD13A 1 83390 1.19918E-5 41695 0 6.3674E-5
12-110467335-C-G p.Gln377Glu missense ANKRD13A 1 83394 1.19913E-5 41697 0 1.64728E-5
12-110467366-G-A p.Arg387Gln missense ANKRD13A 3 83388 3.59764E-5 41694 0 1.19558E-5
12-110467369-C-T p.Thr388Met missense ANKRD13A 2 83386 2.39848E-5 41693 0 7.95311E-6
12-110467370-G-A p.Thr388Thr synonymous ANKRD13A 3 83386 3.59773E-5 41693 0 1.19296E-5
12-110467373-T-C p.Ser389Ser synonymous ANKRD13A 12 83386 1.43909E-4 41693 0 1.27486E-4
12-110467375-C-T p.Ala390Val missense ANKRD13A 2 83380 2.39866E-5 41690 0 NA
12-110467389-C-T p.Leu395Leu synonymous ANKRD13A 1 83382 1.1993E-5 41691 0 NA
12-110467391-G-A p.Leu395Leu synonymous ANKRD13A 1 83370 1.19947E-5 41685 0 6.58924E-5
12-110467402-T-G p.Ile399Ser missense ANKRD13A 1 83352 1.19973E-5 41676 0 3.1841E-5
12-110467410-G-A p.Glu402Lys missense ANKRD13A 1 83338 1.19993E-5 41669 0 3.18552E-5
12-110467417-C-T p.Pro404Leu missense ANKRD13A 1 83332 1.20002E-5 41666 0 NA
12-110468445-G-A c.1235-5G>A splice_region ANKRD13A 1 82546 1.21145E-5 41273 0 4.42666E-6
12-110468479-C-T p.Arg422Trp missense ANKRD13A 1 83072 1.20378E-5 41536 0 9.56206E-5
12-110468480-G-A p.Arg422Gln missense ANKRD13A 1 83068 1.20383E-5 41534 0 9.5645E-5
12-110468496-T-C p.Asn427Asn synonymous ANKRD13A 18 83134 2.16518E-4 41567 0 5.09522E-4
12-110468513-C-T p.Thr433Ile missense ANKRD13A 1 83194 1.20201E-5 41597 0 8.60393E-6
12-110468517-C-T p.Ala434Ala synonymous ANKRD13A 3 83154 3.60776E-5 41577 0 4.46457E-4
12-110468518-G-A p.Glu435Lys missense ANKRD13A 1 83132 1.20291E-5 41566 0 8.63722E-6
12-110468538-T-A p.Asn441Lys missense ANKRD13A 1 83088 1.20354E-5 41544 0 0.00100705
12-110468550-C-G p.Thr445Thr synonymous ANKRD13A 1 82938 1.20572E-5 41469 0 6.25782E-4
12-110468556-T-A p.Ala447Ala synonymous ANKRD13A 1 82678 1.20951E-5 41339 0 5.04032E-4
12-110468565-T-TA c.1348+2_1348+3insA splice_region ANKRD13A 29 82452 3.5172E-4 41226 0 1.27836E-4
12-110468565-T-A c.1348+2T>A splice_donor ANKRD13A 2 82452 2.42565E-5 41226 0 NA
12-110468566-A-ACTTTCAGGACCAGCTTCGAATGGAGGGATCAGCCAG c.1348+3_1348+4insCTTTCAGGACCAGCTTCGAATGGAGGGATCAGCCAG splice_region ANKRD13A 1 82452 1.21283E-5 41226 0 NA
12-110471595-G-A c.1349-7G>A splice_region ANKRD13A 1 82798 1.20776E-5 41399 0 NA
12-110471604-T-C p.Ser451Pro missense+splice_region ANKRD13A 2 82928 2.41173E-5 41464 0 NA
12-110471606-C-G p.Ser451Ser synonymous ANKRD13A 4 82948 4.8223E-5 41474 0 6.37105E-5
12-110471609-C-G p.His452Gln missense ANKRD13A 5 82984 6.02526E-5 41492 0 3.82093E-4
12-110471633-A-G p.Gln460Gln synonymous ANKRD13A 359 83228 0.00431345 41614 6 0.0161128
12-110471635-C-A p.Ser461Tyr missense ANKRD13A 7 83230 8.41043E-5 41615 0 0.00130623
12-110471639-G-T p.Val462Val synonymous ANKRD13A 3 83268 3.60282E-5 41634 0 1.64957E-5
12-110471651-C-T p.Pro466Pro synonymous ANKRD13A 1 83276 1.20083E-5 41638 0 5.04032E-4
12-110471652-G-A p.Glu467Lys missense ANKRD13A 1 83282 1.20074E-5 41641 0 6.25E-4
12-110471657-T-C p.Ser468Ser synonymous ANKRD13A 7 83318 8.40155E-5 41659 0 3.18613E-5
12-110471661-T-C p.Tyr470His missense ANKRD13A 1 83320 1.20019E-5 41660 0 NA
12-110471663-T-TTATATGAGA p.Tyr470_Val471insTyrMetArg conservative_inframe_insertion ANKRD13A 1 83332 1.20002E-5 41666 0 NA
12-110471664-G-A p.Val471Ile missense ANKRD13A 1 83344 1.19985E-5 41672 0 3.99096E-6
12-110471674-A-G p.Asn474Ser missense ANKRD13A 1 83320 1.20019E-5 41660 0 NA
12-110471686-T-C p.Val478Ala missense ANKRD13A 1 83310 1.20034E-5 41655 0 8.23859E-6
12-110471689-A-G p.His479Arg missense ANKRD13A 1 83314 1.20028E-5 41657 0 1.59453E-5
12-110471698-A-G p.Asp482Gly missense ANKRD13A 1 83296 1.20054E-5 41648 0 NA
12-110471699-T-C p.Asp482Asp synonymous ANKRD13A 1 83294 1.20057E-5 41647 0 NA
12-110471708-C-T p.Tyr485Tyr synonymous ANKRD13A 4 83272 4.80354E-5 41636 0 9.56267E-5
12-110471709-G-A p.Glu486Lys missense ANKRD13A 5 83248 6.00615E-5 41624 0 NA
12-110471714-A-G p.Ile487Met missense ANKRD13A 1 83254 1.20114E-5 41627 0 NA
12-110471726-C-T p.Ala491Ala synonymous ANKRD13A 35 83186 4.20744E-4 41593 0 4.04631E-4
12-110471727-A-ATCCAGCAAAGTCTGCTGGAG p.Arg501fs frameshift ANKRD13A 1 83192 1.20204E-5 41596 0 NA
12-110471739-C-T c.490+3C>T splice_region ANKRD13A 1 83152 1.20262E-5 41576 0 NA
12-110471742-C-T c.490+6C>T splice_region ANKRD13A 2 83144 2.40547E-5 41572 0 8.30592E-6
12-110471759-C-T p.Ser502Ser synonymous ANKRD13A 1 83058 1.20398E-5 41529 0 NA
12-110474069-C-T p.Leu505Phe missense ANKRD13A 1 83222 1.20161E-5 41611 0 3.18329E-5
12-110474069-C-CT p.Ser506fs frameshift ANKRD13A 1 83222 1.20161E-5 41611 0 NA
12-110474070-T-C p.Leu505Pro missense ANKRD13A 4257 83140 0.0512028 41570 160 0.0765358
12-110474079-C-G p.Pro508Arg missense ANKRD13A 1 83234 1.20143E-5 41617 0 8.23669E-6
12-110474080-A-G p.Ser72Gly missense ANKRD13A 1 83240 1.20135E-5 41620 0 NA
12-110474086-G-A p.Glu74Lys missense ANKRD13A 1 83252 1.20117E-5 41626 0 6.36254E-5
12-110474112-C-T p.Thr519Ile missense ANKRD13A 3 83246 3.60378E-5 41623 0 1.19301E-5
12-110474115-A-G p.Tyr520Cys missense ANKRD13A 10 83216 1.20169E-4 41608 0 1.27348E-4
12-110474120-G-A p.Ala522Thr missense ANKRD13A 17 83208 2.04307E-4 41604 0 9.55475E-5
12-110474125-G-A p.Gln523Gln synonymous ANKRD13A 1 83220 1.20163E-5 41610 0 3.1841E-5
12-110474139-T-G c.1577+6T>G splice_region ANKRD13A 1 83112 1.2032E-5 41556 0 NA
12-110475156-C-T c.1578-8C>T splice_region ANKRD13A 1 82976 1.20517E-5 41488 0 5.82217E-5
12-110475170-C-G p.Ile528Met missense ANKRD13A 2 83008 2.40941E-5 41504 0 3.98842E-6
12-110475174-G-A p.Glu530Lys missense ANKRD13A 1 83008 1.2047E-5 41504 0 0.00100705
12-110475176-G-A p.Glu530Glu synonymous ANKRD13A 2 82992 2.40987E-5 41496 0 NA
12-110475211-G-C p.Ser542Thr missense ANKRD13A 1 82692 1.20931E-5 41346 0 9.55171E-5
12-110475212-C-G p.Ser542Arg missense ANKRD13A 1 82666 1.20969E-5 41333 0 8.25805E-6
12-110475212-C-T p.Ser542Ser synonymous ANKRD13A 2 82666 2.41937E-5 41333 0 6.25E-4
12-110475216-C-T p.Leu544Leu synonymous ANKRD13A 7 82648 8.46965E-5 41324 0 3.98375E-6
12-110475221-C-T p.Ser545Ser synonymous ANKRD13A 51 82488 6.18272E-4 41244 0 0.004375
12-110475222-G-A p.Glu546Lys missense ANKRD13A 1 82572 1.21106E-5 41286 0 8.25832E-6
12-110475231-C-T p.Arg549Cys missense ANKRD13A 1 82708 1.20907E-5 41354 0 7.96648E-6
12-110475232-G-A p.Arg549His missense ANKRD13A 2 82676 2.41908E-5 41338 0 1.19511E-5
12-110475245-C-T p.Asp553Asp synonymous ANKRD13A 2 82592 2.42154E-5 41296 0 3.98429E-6
12-110475248-G-A p.Leu554Leu synonymous ANKRD13A 2 82574 2.42207E-5 41287 0 1.19541E-5
12-110475259-T-C p.Met558Thr missense ANKRD13A 1 82570 1.21109E-5 41285 0 1.65142E-5
12-110475262-A-G p.Glu559Gly missense ANKRD13A 1 82568 1.21112E-5 41284 0 NA
12-110475266-C-G p.Leu560Leu synonymous ANKRD13A 1 82570 1.21109E-5 41285 0 NA
12-110475273-A-C p.Lys563Gln missense ANKRD13A 1 82588 1.21083E-5 41294 0 3.98451E-6
12-110475305-G-A p.Gln573Gln synonymous ANKRD13A 5 82540 6.05767E-5 41270 0 9.55657E-5
12-110475337-A-G p.Gln584Arg missense ANKRD13A 87 82154 0.00105899 41077 0 8.28289E-4
12-110475345-C-T p.Leu587Phe missense ANKRD13A 1 81986 1.21972E-5 40993 0 8.33959E-6
12-110475457-G-A c.*309G>A splice_region ANKRD13A 35 76618 4.56812E-4 38309 0 1.59256E-4