Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-197832170-C-A p.Gly790Val missense+splice_region ANKRD44 1 52462 1.90614E-5 26231 0 1.33445E-5
2-197832171-C-A c.2369-1G>T splice_acceptor ANKRD44 1 52460 1.90621E-5 26230 0 3.18715E-5
2-197832171-C-CA c.2369-2_2369-1insT splice_acceptor ANKRD44 2 52460 3.81243E-5 26230 1 NA
2-197853861-C-CT c.*453dupA splice_region ANKRD44 9 24382 3.69125E-4 12191 0 3.73489E-4
2-197853861-CT-C c.*453delA splice_region ANKRD44 181 24380 0.00742412 12190 3 0.00495722
2-197854335-C-T p.Ala980Thr missense ANKRD44 7 77140 9.07441E-5 38570 0 1.81708E-4
2-197854336-G-A p.Thr979Thr synonymous ANKRD44 5 77138 6.48189E-5 38569 0 6.37918E-5
2-197854349-G-A p.Ser975Phe missense ANKRD44 1 77192 1.29547E-5 38596 0 1.34079E-5
2-197854353-G-A p.Arg974Cys missense ANKRD44 5 77170 6.4792E-5 38585 0 1.81686E-4
2-197854356-G-A p.Pro973Ser missense ANKRD44 3 77190 3.88651E-5 38595 0 6.0562E-5
2-197854366-C-A p.Arg969Ser missense ANKRD44 1 77182 1.29564E-5 38591 0 NA
2-197854367-C-T p.Arg969Lys missense ANKRD44 1 77166 1.29591E-5 38583 0 6.70385E-6
2-197854368-T-C p.Arg969Gly missense ANKRD44 28 77166 3.62854E-4 38583 0 0.0025
2-197854370-G-A p.Ser968Phe missense ANKRD44 1 77158 1.29604E-5 38579 0 NA
2-197855535-C-T n.286G>A splice_region ANKRD44 3 67328 4.4558E-5 33664 0 3.18552E-5
2-197855649-G-A n.172C>T splice_region ANKRD44 3 66360 4.5208E-5 33180 0 NA
2-197855657-C-T n.170-6G>A splice_region ANKRD44 1 66046 1.5141E-5 33023 0 NA
2-197855658-G-A n.170-7C>T splice_region ANKRD44 4 66024 6.0584E-5 33012 0 NA
2-197858323-A-C p.Leu961Leu synonymous ANKRD44 1 77826 1.28492E-5 38913 0 NA
2-197858334-C-T p.Ala958Thr missense ANKRD44 1 77816 1.28508E-5 38908 0 6.61752E-6
2-197858338-T-C p.Lys956Lys synonymous ANKRD44 3 77824 3.85485E-5 38912 0 2.2818E-4
2-197858352-C-T p.Glu952Lys missense ANKRD44 2 77830 2.5697E-5 38915 0 6.25E-4
2-197858355-C-T p.Glu951Lys missense ANKRD44 2 77836 2.56951E-5 38918 0 NA
2-197858361-C-T p.Val949Ile missense ANKRD44 1 77818 1.28505E-5 38909 0 NA
2-197858361-C-A p.Val949Leu missense ANKRD44 1 77818 1.28505E-5 38909 0 NA
2-197858362-C-T p.Val948Val synonymous ANKRD44 1 77820 1.28502E-5 38910 0 NA
2-197858375-T-C p.Asn944Ser missense ANKRD44 1 77780 1.28568E-5 38890 0 5.95987E-5
2-197858379-G-A p.Arg943Cys missense ANKRD44 1 77768 1.28588E-5 38884 0 5.72541E-5
2-197858380-C-T p.Ala942Ala synonymous ANKRD44 1 77760 1.28601E-5 38880 0 3.18471E-5
2-197858385-C-T p.Ala941Thr missense ANKRD44 1 77728 1.28654E-5 38864 0 5.73855E-5
2-197858386-G-A p.Val940Val synonymous ANKRD44 4 77738 5.14549E-5 38869 0 1.72216E-4
2-197858388-C-T p.Val940Ile missense ANKRD44 1 77712 1.2868E-5 38856 0 7.30014E-5
2-197858390-T-C p.His939Arg missense ANKRD44 1 77704 1.28694E-5 38852 0 6.64028E-6
2-197858392-G-A p.Leu938Leu synonymous ANKRD44 1 77692 1.28713E-5 38846 0 NA
2-197858397-G-A p.Pro937Ser missense+splice_region ANKRD44 2 77648 2.57573E-5 38824 0 1.32973E-5
2-197858406-A-G c.2808-8T>C splice_region ANKRD44 6 77650 7.72698E-5 38825 0 1.99766E-5
2-197859249-TG-T c.*849delC splice_region ANKRD44 1 8768 1.14051E-4 4384 0 NA
2-197859250-G-T c.*849C>A splice_region ANKRD44 4 8422 4.74947E-4 4211 0 1.84054E-4
2-197860096-C-A c.2807+7G>T splice_region ANKRD44 4 82550 4.84555E-5 41275 0 9.55597E-5
2-197860102-C-T c.2807+1G>A splice_donor ANKRD44 1 82606 1.21057E-5 41303 0 1.6053E-5
2-197860114-A-G p.Asn932Asn synonymous ANKRD44 3 82818 3.6224E-5 41409 0 4.00266E-6
2-197860118-T-C p.Asn931Ser missense ANKRD44 1 82812 1.20755E-5 41406 0 NA
2-197860135-G-A p.Ser925Ser synonymous ANKRD44 5 82840 6.03573E-5 41420 0 9.55901E-5
2-197860136-C-G p.Ser925Thr missense ANKRD44 4 82834 4.82893E-5 41417 0 3.18532E-5
2-197860137-TCTC-T p.Glu924del conservative_inframe_deletion ANKRD44 1 82846 1.20706E-5 41423 0 NA
2-197860140-C-T p.Glu924Lys missense ANKRD44 18 82804 2.17381E-4 41402 0 3.58956E-4
2-197860184-C-G p.Gly909Ala missense+splice_region ANKRD44 2 82516 2.42377E-5 41258 0 9.56267E-5
2-197863062-T-G p.Lys908Thr missense+splice_region ANKRD44 1 82584 1.21089E-5 41292 0 3.99198E-6
2-197863067-A-G p.Cys906Cys synonymous ANKRD44 22 82648 2.66189E-4 41324 0 5.04541E-4
2-197863072-C-T p.Ala905Thr missense ANKRD44 1 82706 1.2091E-5 41353 0 NA
2-197863078-G-A p.His903Tyr missense ANKRD44 1 82744 1.20855E-5 41372 0 NA
2-197863084-G-T p.Pro901Thr missense ANKRD44 1 82828 1.20732E-5 41414 0 3.18492E-5
2-197863085-T-C p.Thr900Thr synonymous ANKRD44 1 82818 1.20747E-5 41409 0 8.40732E-6
2-197863086-G-A p.Thr900Ile missense ANKRD44 1 82822 1.20741E-5 41411 0 3.18471E-5
2-197863104-T-G p.Lys894Thr missense ANKRD44 4 82824 4.82952E-5 41412 0 3.18492E-5
2-197863128-C-G p.Ser886Thr missense ANKRD44 4 82658 4.83922E-5 41329 0 3.18492E-5
2-197863131-T-C p.Asn885Ser missense ANKRD44 10 82602 1.21062E-4 41301 0 9.98203E-5
2-197863142-A-G p.Asp881Asp splice_region+synonymous ANKRD44 1 82470 1.21256E-5 41235 0 8.65336E-6
2-197863624-C-T c.2641+7G>A splice_region ANKRD44 1 82866 1.20677E-5 41433 0 NA
2-197863633-A-G p.Val880Ala missense+splice_region ANKRD44 1 82948 1.20557E-5 41474 0 8.28555E-6
2-197863635-A-G p.Ala879Ala synonymous ANKRD44 1 82960 1.2054E-5 41480 0 3.1839E-5
2-197863638-G-A p.Gly878Gly synonymous ANKRD44 2 82950 2.41109E-5 41475 0 0.00100705
2-197863655-C-T p.Glu873Lys missense ANKRD44 1 83018 1.20456E-5 41509 0 NA
2-197863663-A-G p.Met870Thr missense ANKRD44 1 83014 1.20462E-5 41507 0 3.1835E-5
2-197863683-T-C p.Ser863Ser synonymous ANKRD44 216 82962 0.0026036 41481 0 0.006875
2-197863695-T-C p.Ala859Ala synonymous ANKRD44 1 82968 1.20528E-5 41484 0 3.1841E-5
2-197863697-C-T p.Ala859Thr missense ANKRD44 3 82962 3.61611E-5 41481 0 3.1837E-5
2-197863697-C-G p.Ala859Pro missense ANKRD44 1 82962 1.20537E-5 41481 0 NA
2-197863698-G-A p.Asn858Asn synonymous ANKRD44 3319 82892 0.0400401 41446 80 0.0575
2-197863704-T-C p.Pro856Pro synonymous ANKRD44 3 82956 3.61638E-5 41478 0 1.19447E-5
2-197863712-T-G p.Ser854Arg missense ANKRD44 1 82952 1.20552E-5 41476 0 4.13462E-5
2-197863716-T-C p.Arg852Arg synonymous ANKRD44 1 82976 1.20517E-5 41488 0 7.96286E-6
2-197863731-C-T p.Leu847Leu synonymous ANKRD44 1 82986 1.20502E-5 41493 0 NA
2-197863737-C-T p.Glu845Glu synonymous ANKRD44 1 82988 1.20499E-5 41494 0 1.27356E-4
2-197863739-C-G p.Glu845Gln missense ANKRD44 3 82966 3.61594E-5 41483 0 3.1839E-5
2-197863741-A-T p.Val844Glu missense ANKRD44 1 82970 1.20525E-5 41485 0 NA
2-197863743-A-G p.His843His synonymous ANKRD44 3 82970 3.61576E-5 41485 0 1.91046E-4
2-197863761-C-T p.Ala837Ala synonymous ANKRD44 3 82880 3.61969E-5 41440 0 6.25E-4
2-197863762-G-A p.Ala837Val missense ANKRD44 1 82868 1.20674E-5 41434 0 1.66152E-5
2-197863764-A-C p.His836Gln missense ANKRD44 6 82862 7.24096E-5 41431 0 3.1841E-5
2-197863764-A-G p.His836His synonymous ANKRD44 1 82862 1.20683E-5 41431 0 3.99227E-6
2-197863772-G-T p.Pro834Thr missense ANKRD44 1 82806 1.20764E-5 41403 0 8.3414E-6
2-197863772-G-A p.Pro834Ser missense ANKRD44 1 82806 1.20764E-5 41403 0 8.3414E-6
2-197863778-T-TGCCTTTGTCATCTCTACAACTGACGATACTGGAATCTATGGCCCC c.2496-3_2496-2insGGGGCCATAGATTCCAGTATCGTCAGTTGTAGAGATGACAAAGGC splice_region ANKRD44 2 82750 2.41692E-5 41375 1 NA
2-197865134-AT-A c.2495+8delA splice_region ANKRD44 1 82892 1.20639E-5 41446 0 NA
2-197865168-C-T p.Val824Ile missense ANKRD44 3 83064 3.61167E-5 41532 0 3.29538E-5
2-197865169-G-T p.Ile823Ile synonymous ANKRD44 3 83086 3.61072E-5 41543 0 1.64766E-5
2-197865174-T-G p.Ser822Arg missense ANKRD44 3 83104 3.60993E-5 41552 0 6.36426E-5
2-197865183-T-C p.Ile819Val missense ANKRD44 2 83130 2.40587E-5 41565 0 3.97735E-6
2-197865192-G-A p.Leu816Phe missense ANKRD44 10 83124 1.20302E-4 41562 0 7.95488E-5
2-197865193-C-T p.Leu815Leu synonymous ANKRD44 2 83128 2.40593E-5 41564 0 1.64772E-5
2-197865202-T-A p.Ala812Ala synonymous ANKRD44 1 83140 1.20279E-5 41570 0 NA
2-197865205-A-G p.Cys811Cys synonymous ANKRD44 2 83128 2.40593E-5 41564 0 NA
2-197865207-A-T p.Cys811Ser missense ANKRD44 1 83124 1.20302E-5 41562 0 3.97845E-6
2-197865220-A-G p.Asn806Asn synonymous ANKRD44 1 83066 1.20386E-5 41533 0 NA
2-197866470-T-A c.2411+7A>T splice_region ANKRD44 64335 81258 0.791737 40629 26071 0.838647
2-197866479-T-C p.Ala803Ala splice_region+synonymous ANKRD44 1 82812 1.20755E-5 41406 0 8.00339E-6
2-197866485-G-A p.His801His synonymous ANKRD44 1 82832 1.20726E-5 41416 0 3.98032E-6
2-197866505-T-G p.Asn795His missense ANKRD44 1 82866 1.20677E-5 41433 0 8.27623E-6
2-197866508-C-T p.Gly794Ser missense ANKRD44 1 82834 1.20723E-5 41417 0 3.18471E-5
2-197866509-G-A p.Ile793Ile synonymous ANKRD44 2 82862 2.41365E-5 41431 0 4.77802E-5
2-197866511-T-C p.Ile793Val missense ANKRD44 2 82866 2.41354E-5 41433 0 NA
2-197866516-T-C p.Lys791Arg missense ANKRD44 3 82826 3.62205E-5 41413 0 3.98226E-6
2-197866519-C-T p.Arg790His missense ANKRD44 1 82776 1.20808E-5 41388 0 7.96737E-6
2-197866520-G-A p.Arg790Cys missense ANKRD44 3 82796 3.62336E-5 41398 0 1.19516E-5
2-197866535-C-G p.Glu785Gln missense ANKRD44 1 82644 1.21001E-5 41322 0 NA
2-197866537-A-T p.Leu784* stop_gained ANKRD44 1 82642 1.21004E-5 41321 0 NA
2-197866561-T-C p.Asn776Ser missense ANKRD44 1 82010 1.21936E-5 41005 0 2.4524E-5
2-197870443-C-T p.Thr766Thr synonymous ANKRD44 2 83222 2.40321E-5 41611 0 3.97725E-6
2-197870458-A-G p.Asp761Asp synonymous ANKRD44 1 83274 1.20085E-5 41637 0 2.47296E-5
2-197870465-A-C p.Phe759Cys missense ANKRD44 2 83280 2.40154E-5 41640 0 NA
2-197870485-A-C p.Leu752Leu synonymous ANKRD44 1 83248 1.20123E-5 41624 0 2.47264E-5
2-197870506-G-A p.Ser745Ser synonymous ANKRD44 3 83198 3.60586E-5 41599 0 2.2293E-4
2-197870515-C-T p.Thr742Thr synonymous ANKRD44 4 83202 4.80758E-5 41601 0 6.76165E-5
2-197870520-C-T p.Ala741Thr missense ANKRD44 2 83206 2.40367E-5 41603 0 9.55171E-5
2-197870521-G-A p.His740His synonymous ANKRD44 19 83212 2.28332E-4 41606 1 0.00100705
2-197870528-C-T p.Arg738His missense ANKRD44 1 83220 1.20163E-5 41610 0 3.1837E-5
2-197870536-T-C p.Ala735Ala synonymous ANKRD44 160 83220 0.00192261 41610 0 0.00171909
2-197870547-A-G p.Leu732Leu synonymous ANKRD44 2 83224 2.40315E-5 41612 0 1.59106E-5
2-197870548-G-T p.Pro731Pro synonymous ANKRD44 4 83220 4.80654E-5 41610 0 NA
2-197870550-G-A p.Pro731Ser missense ANKRD44 1 83210 1.20178E-5 41605 0 NA
2-197870551-C-T p.Thr730Thr synonymous ANKRD44 1 83210 1.20178E-5 41605 0 8.24797E-6
2-197870552-G-A p.Thr730Met missense ANKRD44 4 83220 4.80654E-5 41610 0 6.3678E-5
2-197870554-C-T p.Arg729Arg synonymous ANKRD44 1 83226 1.20155E-5 41613 0 NA
2-197870568-C-G p.Asp725His missense ANKRD44 1 83250 1.2012E-5 41625 0 NA
2-197870580-T-C p.Ile721Val missense ANKRD44 1 83246 1.20126E-5 41623 0 3.1835E-5
2-197870598-G-A p.Leu715Leu synonymous ANKRD44 1 83246 1.20126E-5 41623 0 NA
2-197870601-G-A p.Leu714Leu synonymous ANKRD44 50 83238 6.00687E-4 41619 0 0.00222758
2-197870608-C-T p.Val711Val synonymous ANKRD44 1 83242 1.20132E-5 41621 0 1.65278E-5
2-197870621-T-C p.His707Arg missense ANKRD44 4 83178 4.80896E-5 41589 0 6.25E-4
2-197870638-A-T c.2107-4T>A splice_region ANKRD44 828 82880 0.00999035 41440 25 0.0239126
2-197870641-C-T c.2107-7G>A splice_region ANKRD44 4 82896 4.82532E-5 41448 0 3.98902E-6
2-197872545-T-A p.Thr697Thr synonymous ANKRD44 1 83040 1.20424E-5 41520 0 3.98086E-6
2-197872551-T-C p.Gly695Gly synonymous ANKRD44 1 83052 1.20406E-5 41526 0 NA
2-197872553-C-T p.Gly695Arg missense ANKRD44 2 83056 2.40801E-5 41528 0 3.97972E-6
2-197872557-G-T p.Ile693Ile synonymous ANKRD44 1 83108 1.20325E-5 41554 0 NA
2-197872574-C-T p.Val688Ile missense ANKRD44 1040 83136 0.0125096 41568 16 0.0246727
2-197872576-T-A p.Asn687Ile missense ANKRD44 1 83160 1.2025E-5 41580 0 8.24008E-5
2-197872596-C-A p.Leu680Phe missense ANKRD44 1 83172 1.20233E-5 41586 0 NA
2-197872602-A-G p.Val678Val synonymous ANKRD44 31 83146 3.72838E-4 41573 0 5.03525E-4
2-197872606-G-A p.Ala677Val missense ANKRD44 1 83146 1.2027E-5 41573 0 3.29614E-5
2-197872607-C-T p.Ala677Thr missense ANKRD44 2 83126 2.40599E-5 41563 0 6.59207E-5
2-197872608-G-A p.Asp676Asp synonymous ANKRD44 2 83128 2.40593E-5 41564 0 1.27437E-4
2-197872631-C-A p.Ala669Ser missense ANKRD44 2 83122 2.4061E-5 41561 0 0.00171975
2-197872641-T-C p.Pro665Pro synonymous ANKRD44 2 83096 2.40685E-5 41548 0 3.18593E-5
2-197873687-C-G p.Val657Leu missense ANKRD44 1 83270 1.20091E-5 41635 0 3.97678E-6
2-197873688-A-G p.Asp656Asp synonymous ANKRD44 1 83274 1.20085E-5 41637 0 1.6488E-5
2-197873690-C-T p.Asp656Asn missense ANKRD44 9 83262 1.08093E-4 41631 0 7.95387E-5
2-197873693-C-G p.Val655Leu missense ANKRD44 4 83272 4.80354E-5 41636 0 6.36862E-5
2-197873695-G-A p.Ala654Val missense ANKRD44 1 83288 1.20065E-5 41644 0 2.47308E-5
2-197873696-C-T p.Ala654Thr missense ANKRD44 1 83298 1.20051E-5 41649 0 NA
2-197873700-C-T p.Pro652Pro synonymous ANKRD44 1 83290 1.20062E-5 41645 0 3.5791E-5
2-197873701-G-A p.Pro652Leu missense ANKRD44 3 83298 3.60153E-5 41649 0 6.37064E-5
2-197873728-C-T p.Arg643Gln missense ANKRD44 1 83310 1.20034E-5 41655 0 3.18573E-5
2-197873736-C-T p.Leu640Leu synonymous ANKRD44 7 83326 8.40074E-5 41663 0 1.59215E-4
2-197873738-G-T p.Leu640Met missense ANKRD44 1 83326 1.20011E-5 41663 0 NA
2-197873748-A-G p.Asn636Asn synonymous ANKRD44 2 83304 2.40085E-5 41652 0 7.95589E-6
2-197878230-C-T c.1900+5G>A splice_region ANKRD44 1 83360 1.19962E-5 41680 0 NA
2-197878248-T-C p.Pro629Pro synonymous ANKRD44 85 83382 0.0010194 41691 0 0.0020141
2-197878266-A-T p.Asn623Lys missense ANKRD44 1 83398 1.19907E-5 41699 0 8.23642E-6
2-197878266-A-G p.Asn623Asn synonymous ANKRD44 2 83398 2.39814E-5 41699 0 1.19292E-5
2-197878267-T-C p.Asn623Ser missense ANKRD44 3 83394 3.59738E-5 41697 0 0.00100705
2-197878270-T-C p.Asp622Gly missense ANKRD44 1 83394 1.19913E-5 41697 0 NA
2-197878284-G-A p.Ser617Ser synonymous ANKRD44 1 83388 1.19921E-5 41694 0 NA
2-197878287-T-C p.Ala616Ala synonymous ANKRD44 1 83384 1.19927E-5 41692 0 3.97627E-6
2-197878289-C-T p.Ala616Thr missense ANKRD44 6 83388 7.19528E-5 41694 0 2.47093E-5
2-197878290-G-A p.Gly615Gly synonymous ANKRD44 9 83388 1.07929E-4 41694 0 8.74779E-5
2-197878297-T-C p.Asn613Ser missense ANKRD44 1 83394 1.19913E-5 41697 0 1.64728E-5
2-197878305-C-T p.Ala610Ala synonymous ANKRD44 3 83390 3.59755E-5 41695 0 6.25E-4
2-197878306-G-A p.Ala610Val missense ANKRD44 61 83384 7.31555E-4 41692 0 0.00216657
2-197878306-G-C p.Ala610Gly missense ANKRD44 2 83390 2.39837E-5 41695 0 1.98815E-5
2-197878321-G-A p.Thr605Ile missense ANKRD44 2 83386 2.39848E-5 41693 0 8.23642E-6
2-197878338-A-G p.Ala599Ala synonymous ANKRD44 3 83376 3.59816E-5 41688 0 8.23669E-6
2-197878340-C-A p.Ala599Ser missense ANKRD44 1 83374 1.19941E-5 41687 0 7.95279E-6
2-197878355-T-C p.Thr594Ala missense ANKRD44 2 83358 2.39929E-5 41679 0 NA
2-197878357-C-T p.Arg593His missense ANKRD44 1 83356 1.19967E-5 41678 0 6.37064E-5
2-197878368-A-G p.Asp589Asp synonymous ANKRD44 3 83340 3.59971E-5 41670 0 5.56713E-4
2-197878382-G-C p.Leu585Val missense ANKRD44 2 83264 2.402E-5 41632 0 7.95355E-6
2-197878393-G-A p.Ser581Leu missense ANKRD44 6 83136 7.21709E-5 41568 0 0.00100705
2-197878396-T-C p.Gln580Arg missense ANKRD44 1 83098 1.2034E-5 41549 0 NA
2-197878404-G-A p.Val577Val synonymous ANKRD44 1 82900 1.20627E-5 41450 0 NA
2-197878408-T-G p.Glu576Ala missense ANKRD44 1 82770 1.20817E-5 41385 0 3.18593E-5
2-197878414-G-T p.Ala574Asp missense ANKRD44 2 82544 2.42295E-5 41272 0 8.26925E-6
2-197878423-T-C p.His571Arg missense ANKRD44 1 82018 1.21924E-5 41009 0 NA
2-197878429-T-G p.Asn569Thr missense ANKRD44 1 81654 1.22468E-5 40827 0 3.98705E-6
2-197889922-C-A p.Ala566Ser missense+splice_region ANKRD44 3 82942 3.61699E-5 41471 0 3.29647E-5
2-197889946-C-G p.Ala558Pro missense ANKRD44 1 83034 1.20433E-5 41517 0 NA
2-197889953-A-G p.Asp555Asp synonymous ANKRD44 1 83046 1.20415E-5 41523 0 NA
2-197889976-T-C p.Asn548Asp missense ANKRD44 3 83032 3.61306E-5 41516 0 3.1839E-5
2-197889980-T-C p.Arg546Arg synonymous ANKRD44 1 83014 1.20462E-5 41507 0 3.1835E-5
2-197889982-T-C p.Arg546Gly missense ANKRD44 2 82972 2.41045E-5 41486 0 4.94674E-5
2-197889986-C-T p.Leu544Leu synonymous ANKRD44 1 82946 1.2056E-5 41473 0 1.27421E-4
2-197889992-C-CAATTCCAGACACTGCCTGTGCCCATAGGCGGCAGCATAATGTATGCTAT c.1627-2_1627-1insATAGCATACATTATGCTGCCGCCTATGGGCACAGGCAGTGTCTGGAATT splice_acceptor ANKRD44 1 82950 1.20555E-5 41475 0 NA
2-197889996-G-A c.1627-5C>T splice_region ANKRD44 3 82882 3.6196E-5 41441 0 NA
2-197943342-A-G p.Leu579Leu synonymous ANKRD44 14 77812 1.79921E-4 38906 0 6.25E-4
2-197943345-CTG-C p.Pro577fs frameshift ANKRD44 1 78092 1.28054E-5 39046 0 NA
2-197943348-G-GA p.Pro577fs frameshift ANKRD44 2 78390 2.55135E-5 39195 0 NA
2-197943377-G-A p.Pro567Leu missense ANKRD44 15 80678 1.85924E-4 40339 0 1.91266E-4
2-197943378-G-A p.Pro567Ser missense ANKRD44 3 80688 3.71802E-5 40344 0 1.80695E-5
2-197943380-G-T p.Thr566Asn missense ANKRD44 2 80810 2.47494E-5 40405 0 3.41134E-5
2-197943380-GTA-G p.Thr566fs frameshift ANKRD44 1 80810 1.23747E-5 40405 0 3.18613E-5
2-197943382-ATG-A p.His565fs frameshift ANKRD44 543 58712 0.00924854 29356 0 0.214602
2-197943382-A-ATG p.Thr566fs frameshift ANKRD44 190 80768 0.00235242 40384 0 0.0051961
2-197943382-ATGTG-A p.Thr564fs frameshift ANKRD44 1 80778 1.23796E-5 40389 0 1.81167E-4
2-197943382-A-ATGTG p.Pro567fs frameshift ANKRD44 1 80796 1.23769E-5 40398 0 6.97464E-5
2-197943382-A-G p.His565His synonymous ANKRD44 1 80792 1.23775E-5 40396 0 6.66267E-5
2-197943386-G-A p.Thr564Ile missense ANKRD44 1 80984 1.23481E-5 40492 0 1.10334E-5
2-197943386-G-C p.Thr564Arg missense ANKRD44 1 80986 1.23478E-5 40493 0 NA
2-197943404-GAAAAC-G p.Leu556fs frameshift ANKRD44 2 81594 2.45116E-5 40797 0 NA
2-197943404-G-GAAAAC p.Ser558fs frameshift ANKRD44 2 81594 2.45116E-5 40797 0 4.04596E-6
2-197943419-C-G p.Cys553Ser missense ANKRD44 1 81966 1.22002E-5 40983 0 NA
2-197943420-A-G p.Cys553Arg missense ANKRD44 1 82030 1.21907E-5 41015 0 NA
2-197943429-A-G p.Leu542Leu splice_region+synonymous ANKRD44 1 82240 1.21595E-5 41120 0 NA
2-197943433-C-T p.Leu540Leu synonymous ANKRD44 14 82304 1.70101E-4 41152 0 1.91804E-4
2-197943443-C-T p.Arg537Lys missense ANKRD44 1 82430 1.21315E-5 41215 0 NA
2-197943448-C-T p.Gly535Gly synonymous ANKRD44 3 82472 3.6376E-5 41236 0 3.33622E-5
2-197943451-A-G p.Tyr534Tyr synonymous ANKRD44 3 82480 3.63725E-5 41240 0 3.18695E-5
2-197943454-G-A p.Ala533Ala synonymous ANKRD44 15 82536 1.81739E-4 41268 0 7.97283E-5
2-197943456-C-T p.Ala533Thr missense ANKRD44 1 82544 1.21148E-5 41272 0 3.98622E-6
2-197943457-G-A p.Ala532Ala synonymous ANKRD44 3 82534 3.63487E-5 41267 0 1.27632E-4
2-197943468-G-A p.His529Tyr missense ANKRD44 3 82676 3.62862E-5 41338 0 NA
2-197943478-G-A p.Tyr525Tyr synonymous ANKRD44 3 82740 3.62582E-5 41370 0 2.74876E-4
2-197943489-T-G p.Lys522Gln missense ANKRD44 607 82738 0.00733641 41369 6 0.0176234
2-197943491-T-C p.Asp521Gly missense ANKRD44 1 82736 1.20866E-5 41368 0 NA
2-197943494-C-T p.Arg520Gln missense ANKRD44 4 82704 4.83653E-5 41352 0 7.96838E-5
2-197943494-C-A p.Arg520Leu missense ANKRD44 1 82704 1.20913E-5 41352 0 NA
2-197943495-G-A p.Arg520Trp missense ANKRD44 2 82710 2.41809E-5 41355 0 1.19544E-5
2-197943500-G-C p.Ser518Cys missense ANKRD44 4 82720 4.83559E-5 41360 0 1.6581E-5
2-197943508-T-C p.Ala515Ala synonymous ANKRD44 1 82676 1.20954E-5 41338 0 NA
2-197943515-T-C p.Asn513Ser missense ANKRD44 2 82608 2.42107E-5 41304 0 NA
2-197943517-T-C p.Gln512Gln synonymous ANKRD44 1 82612 1.21048E-5 41306 0 NA
2-197943540-T-C c.1515-2A>G splice_acceptor ANKRD44 1 82184 1.21678E-5 41092 0 NA
2-197946370-G-A p.Leu505Leu splice_region+synonymous ANKRD44 1 82716 1.20896E-5 41358 0 NA
2-197946372-G-T p.Thr504Lys missense ANKRD44 2 82718 2.41785E-5 41359 0 1.64794E-5
2-197946392-C-T p.Glu497Glu synonymous ANKRD44 4313 82548 0.0522484 41274 152 0.049375
2-197946400-C-T p.Ala495Thr missense ANKRD44 1 82832 1.20726E-5 41416 0 8.23832E-6
2-197946414-T-C p.Glu490Gly missense ANKRD44 2 82788 2.41581E-5 41394 0 NA
2-197946418-A-G p.Ser489Pro missense ANKRD44 1 82778 1.20805E-5 41389 0 NA
2-197946440-G-A p.Ile481Ile synonymous ANKRD44 1 82534 1.21162E-5 41267 0 NA
2-197946444-G-A p.Thr480Ile missense ANKRD44 1 82420 1.2133E-5 41210 0 6.3743E-5
2-197946450-C-T c.1434-1G>A splice_acceptor ANKRD44 7 82316 8.50381E-5 41158 1 NA
2-197946451-T-G c.1434-2A>C splice_acceptor ANKRD44 1 82264 1.2156E-5 41132 0 NA
2-197946453-C-CTA c.1434-5_1434-4insTA splice_region ANKRD44 1 82238 1.21598E-5 41119 0 NA
2-197946453-C-T c.1434-4G>A splice_region ANKRD44 1 82238 1.21598E-5 41119 0 NA
2-197946456-A-G c.1434-7T>C splice_region ANKRD44 1 82144 1.21737E-5 41072 0 NA
2-197948075-GAGCAAGGCTGTTTTTA-G c.1433+2_1433+17delTAAAAACAGCCTTGCT splice_donor ANKRD44 1 83062 1.20392E-5 41531 0 4.04904E-6
2-197948091-A-T c.1433+2T>A splice_donor ANKRD44 1 83174 1.2023E-5 41587 0 NA
2-197948094-T-C p.Asn478Asp missense+splice_region ANKRD44 1 83198 1.20195E-5 41599 0 NA
2-197948096-C-T p.Arg477Lys missense ANKRD44 1 83208 1.20181E-5 41604 0 8.01089E-6
2-197948102-A-G p.Met475Thr missense ANKRD44 1 83256 1.20111E-5 41628 0 NA
2-197948105-T-C p.Asp474Gly missense ANKRD44 68 83260 8.16719E-4 41630 0 0.00125
2-197948111-G-A p.Ala472Val missense ANKRD44 1 83278 1.2008E-5 41639 0 NA
2-197948116-G-A p.Ala470Ala synonymous ANKRD44 4 83274 4.80342E-5 41637 0 3.1841E-5
2-197948118-C-T p.Ala470Thr missense ANKRD44 5 83280 6.00384E-5 41640 0 1.59443E-5
2-197948125-C-T p.Leu467Leu synonymous ANKRD44 1 83300 1.20048E-5 41650 0 3.98298E-6
2-197948134-G-A p.Arg464Arg synonymous ANKRD44 3 83306 3.60118E-5 41653 0 5.03525E-4
2-197948136-G-A p.Arg464Cys missense ANKRD44 2 83304 2.40085E-5 41652 0 3.18492E-5
2-197948160-C-T p.Val456Ile missense ANKRD44 5 83330 6.00024E-5 41665 0 2.47288E-5
2-197948161-G-T p.Asn455Lys missense ANKRD44 1 83320 1.20019E-5 41660 0 1.6487E-5
2-197948167-C-G p.Gly453Gly synonymous ANKRD44 1 83320 1.20019E-5 41660 0 NA
2-197948173-G-A p.Thr451Thr synonymous ANKRD44 1 83312 1.20031E-5 41656 0 4.12235E-5
2-197948190-T-C p.Ile446Val missense ANKRD44 3 83272 3.60265E-5 41636 0 3.29843E-5
2-197948209-C-T p.Ala439Ala synonymous ANKRD44 140 83160 0.0016835 41580 3 0.0110775
2-197948228-G-C p.Pro433Arg missense ANKRD44 1 83058 1.20398E-5 41529 0 3.18492E-5
2-197948235-T-TCCCACACTTGTCCTTTTTATGGAAATCTGCTCCGCTGCTCTGCAAGA c.1293-3_1293-2insTCTTGCAGAGCAGCGGAGCAGATTTCCATAAAAAGGACAAGTGTGGG splice_region ANKRD44 2 82958 2.41086E-5 41479 1 NA
2-197948236-GA-G c.1293-4delT splice_region ANKRD44 1 82934 1.20578E-5 41467 0 4.0618E-6
2-197951396-T-C c.1292+8A>G splice_region ANKRD44 1 82570 1.21109E-5 41285 0 3.98292E-6
2-197951400-A-G c.1292+4T>C splice_region ANKRD44 1 82638 1.2101E-5 41319 0 4.94796E-5
2-197951421-T-C p.Lys425Lys synonymous ANKRD44 1 82722 1.20887E-5 41361 0 3.98051E-6
2-197951422-T-A p.Lys425Ile missense ANKRD44 1 82728 1.20878E-5 41364 0 7.96128E-6
2-197951439-G-A p.Ser419Ser synonymous ANKRD44 7 82706 8.46371E-5 41353 0 0.0020141
2-197951442-G-C p.Ser418Arg missense ANKRD44 1 82712 1.20901E-5 41356 0 NA
2-197951443-C-T p.Ser418Asn missense ANKRD44 1 82696 1.20925E-5 41348 0 NA
2-197951451-G-A p.Leu415Leu synonymous ANKRD44 1 82642 1.21004E-5 41321 0 NA
2-197951465-C-T p.Glu411Lys missense ANKRD44 3 82518 3.63557E-5 41259 0 NA
2-197951474-T-C c.1224-2A>G splice_acceptor ANKRD44 1 82360 1.21418E-5 41180 0 NA
2-197951475-A-G c.1224-3T>C splice_region ANKRD44 2 82332 2.42919E-5 41166 0 NA
2-197951478-A-G c.1224-6T>C splice_region ANKRD44 2 82266 2.43114E-5 41133 0 8.25137E-6
2-197953461-C-T p.Thr399Thr synonymous ANKRD44 1 83218 1.20166E-5 41609 0 1.07211E-4
2-197953506-C-T c.1160-8G>A splice_region ANKRD44 1 83238 1.20137E-5 41619 0 NA
2-197953535-C-G p.Val198Leu missense ANKRD44 1 83050 1.20409E-5 41525 0 NA
2-197953536-T-A p.Ile197Ile synonymous ANKRD44 1 83040 1.20424E-5 41520 0 8.40195E-6
2-197953539-G-A p.Ser196Ser synonymous ANKRD44 2 82992 2.40987E-5 41496 0 3.18431E-5
2-197953545-CT-C p.Lys194fs frameshift ANKRD44 2 82830 2.41458E-5 41415 1 NA
2-197953548-T-C p.Gln193Gln synonymous ANKRD44 1 82502 1.21209E-5 41251 0 NA
2-197954674-C-G p.Gly387Arg missense+splice_region ANKRD44 2 82704 2.41826E-5 41352 0 1.99135E-5
2-197954675-C-T p.Ser386Ser splice_region+synonymous ANKRD44 6 82700 7.25514E-5 41350 0 6.25E-4
2-197954676-G-A p.Ser386Leu missense+splice_region ANKRD44 61 82728 7.37356E-4 41364 0 6.34737E-4
2-197954678-T-C p.Ser385Ser synonymous ANKRD44 544 82702 0.00657783 41351 7 0.00617716
2-197954688-T-A p.Lys382Met missense ANKRD44 1 82756 1.20837E-5 41378 0 8.24212E-6
2-197954702-A-T p.Ser377Ser synonymous ANKRD44 1 82774 1.20811E-5 41387 0 8.2409E-6
2-197954705-G-A p.His376His synonymous ANKRD44 1 82798 1.20776E-5 41399 0 NA
2-197954711-A-C p.Asn374Lys missense ANKRD44 1 82844 1.20709E-5 41422 0 3.98083E-6
2-197954717-G-A p.Ala372Ala synonymous ANKRD44 1169 82822 0.0141146 41411 10 0.0145851
2-197954717-G-C p.Ala372Ala synonymous ANKRD44 3 82860 3.62056E-5 41430 0 6.36902E-5
2-197954737-A-C p.Phe366Val missense ANKRD44 1 82848 1.20703E-5 41424 0 NA
2-197954742-C-T p.Ser364Asn missense ANKRD44 1 82822 1.20741E-5 41411 0 3.18451E-5
2-197964532-T-G c.1076+8A>C splice_region ANKRD44 2 83288 2.40131E-5 41644 0 1.65555E-5
2-197964540-T-A p.Lys359Met missense+splice_region ANKRD44 1 83300 1.20048E-5 41650 0 3.98454E-6
2-197964546-G-A p.Thr357Ile missense ANKRD44 8 83300 9.60384E-5 41650 0 6.36943E-5
2-197964557-G-A p.Ser353Ser synonymous ANKRD44 2 83310 2.40067E-5 41655 0 7.95805E-6
2-197964564-A-G p.Ile351Thr missense ANKRD44 1 83320 1.20019E-5 41660 0 NA
2-197964593-G-A p.Tyr341Tyr synonymous ANKRD44 1 83334 1.19999E-5 41667 0 3.29516E-5
2-197964599-T-C p.Ala339Ala synonymous ANKRD44 6 83320 7.20115E-5 41660 0 NA
2-197964616-G-C p.Pro334Ala missense ANKRD44 3 83318 3.60066E-5 41659 0 1.6475E-5
2-197964620-G-A p.Asn332Asn synonymous ANKRD44 1 83314 1.20028E-5 41657 0 3.18451E-5
2-197975487-T-C c.961+3A>G splice_region ANKRD44 16 82700 1.9347E-4 41350 0 9.14746E-5
2-197975494-C-T p.Gln319Gln synonymous ANKRD44 1 82822 1.20741E-5 41411 0 8.23778E-6
2-197975502-G-A p.Leu317Phe missense ANKRD44 2 82872 2.41336E-5 41436 0 NA
2-197975505-T-A p.Thr316Ser missense ANKRD44 12 82878 1.44791E-4 41439 0 8.23832E-5
2-197975541-T-C p.Met304Val missense ANKRD44 1 82990 1.20496E-5 41495 0 6.36902E-5
2-197975542-G-A p.His303His synonymous ANKRD44 1 82996 1.20488E-5 41498 0 8.2394E-6
2-197975564-T-C p.Lys296Arg missense ANKRD44 4 82820 4.82975E-5 41410 0 1.98858E-5
2-197975568-T-C p.Ser295Gly missense+splice_region ANKRD44 1 82722 1.20887E-5 41361 0 1.98886E-5
2-197975570-T-TA c.883-3_883-2insT splice_region ANKRD44 1 82712 1.20901E-5 41356 0 4.94625E-5
2-197986048-T-C c.882+8A>G splice_region ANKRD44 64072 68562 0.934512 34281 30012 0.959765
2-197986048-T-A c.882+8A>T splice_region ANKRD44 1 83210 1.20178E-5 41605 0 3.97934E-6
2-197986049-G-A c.882+7C>T splice_region ANKRD44 2 83224 2.40315E-5 41612 0 5.7672E-5
2-197986070-C-G p.Asp290His missense ANKRD44 2 83318 2.40044E-5 41659 0 8.23778E-6
2-197986076-C-T p.Gly288Arg missense ANKRD44 1 83320 1.20019E-5 41660 0 NA
2-197986077-G-A p.Asn287Asn synonymous ANKRD44 16 83334 1.91998E-4 41667 0 6.25E-4
2-197986079-T-G p.Asn287His missense ANKRD44 1 83336 1.19996E-5 41668 0 NA
2-197986083-T-C p.Val285Val synonymous ANKRD44 1 83344 1.19985E-5 41672 0 3.1837E-5
2-197986092-T-A p.Glu282Asp missense ANKRD44 4 83360 4.79846E-5 41680 0 9.55536E-5
2-197986095-A-C p.Leu281Leu synonymous ANKRD44 1 83368 1.1995E-5 41684 0 6.25E-4
2-197986111-T-A p.His276Leu missense ANKRD44 2 83374 2.39883E-5 41687 0 NA
2-197986114-G-A p.Thr275Ile missense ANKRD44 1 83380 1.19933E-5 41690 0 NA
2-197986143-G-A p.Phe265Phe synonymous ANKRD44 1 83364 1.19956E-5 41682 0 NA
2-197986149-A-C p.Asn263Lys missense ANKRD44 1 83374 1.19941E-5 41687 0 3.18552E-5
2-197986150-T-C p.Asn263Ser missense ANKRD44 1 83376 1.19939E-5 41688 0 NA
2-197986162-T-C p.Gln259Arg missense ANKRD44 1 83372 1.19944E-5 41686 0 NA
2-197986163-G-C p.Gln259Glu missense ANKRD44 1 83372 1.19944E-5 41686 0 NA
2-197986167-C-G p.Val257Val synonymous ANKRD44 2 83370 2.39894E-5 41685 0 NA
2-197986169-C-T p.Val257Met missense ANKRD44 1 83368 1.1995E-5 41684 0 3.97712E-6
2-197986178-C-T p.Gly254Ser missense ANKRD44 18 83372 2.159E-4 41686 0 2.22733E-4
2-197986179-G-A p.Tyr253Tyr synonymous ANKRD44 1 83368 1.1995E-5 41684 0 1.98863E-5
2-197986180-T-C p.Tyr253Cys missense ANKRD44 12 83362 1.4395E-4 41681 0 1.27265E-4
2-197986186-A-G p.Ile251Thr missense ANKRD44 1 83366 1.19953E-5 41683 0 NA
2-197986188-C-G p.Leu250Phe missense ANKRD44 1 83352 1.19973E-5 41676 0 3.97709E-6
2-197986190-A-G p.Leu250Leu synonymous ANKRD44 2 83348 2.39958E-5 41674 0 5.03525E-4
2-197986194-G-A p.Asn248Asn synonymous ANKRD44 2 83342 2.39975E-5 41671 0 4.12242E-5
2-197986199-C-T p.Val247Ile missense ANKRD44 2 83340 2.39981E-5 41670 0 1.19317E-5
2-197986203-A-G p.Ala245Ala synonymous ANKRD44 3 83340 3.59971E-5 41670 0 3.97722E-6
2-197986217-T-C p.Asn241Asp missense ANKRD44 1 83320 1.20019E-5 41660 0 NA
2-197986225-G-A p.Ala238Val missense ANKRD44 19 83300 2.28091E-4 41650 0 3.18471E-4
2-197986227-G-A p.Ile237Ile synonymous ANKRD44 1 83292 1.2006E-5 41646 0 1.65906E-5
2-197986237-G-A p.Ala234Val missense ANKRD44 4 83238 4.8055E-5 41619 0 4.18284E-5
2-197986243-T-G p.Asn232Thr missense ANKRD44 1 83206 1.20184E-5 41603 0 NA
2-197986267-A-G p.Ile224Thr missense+splice_region ANKRD44 1 82876 1.20662E-5 41438 0 7.99079E-6
2-197986272-C-G c.670-4G>C splice_region ANKRD44 2 82734 2.41739E-5 41367 0 3.33944E-4
2-197987385-G-C p.Leu220Val missense ANKRD44 1 83306 1.20039E-5 41653 0 NA
2-197987402-A-G p.Val214Ala missense ANKRD44 1 83318 1.20022E-5 41659 0 9.55353E-5
2-197987406-C-T p.Val213Ile missense ANKRD44 2 83304 2.40085E-5 41652 0 3.97855E-6
2-197987426-G-A p.Ala206Val missense ANKRD44 1 83320 1.20019E-5 41660 0 NA
2-197987444-G-A p.Thr200Ile missense ANKRD44 1 83318 1.20022E-5 41659 0 8.24103E-6
2-197987451-C-A p.Gly198Cys missense ANKRD44 2 83328 2.40015E-5 41664 0 3.97757E-6
2-197987455-C-T p.Lys196Lys synonymous ANKRD44 10 83336 1.19996E-4 41668 0 9.5511E-5
2-197987459-T-C p.Asp195Gly missense ANKRD44 1 83338 1.19993E-5 41669 0 8.24307E-6
2-197987479-G-A p.Gly188Gly synonymous ANKRD44 3 83330 3.60014E-5 41665 0 3.29859E-5
2-197987479-G-T p.Gly188Gly synonymous ANKRD44 1 83330 1.20005E-5 41665 0 3.1837E-5
2-197987485-G-A p.Asn186Asn synonymous ANKRD44 1 83322 1.20016E-5 41661 0 3.97991E-6
2-197987497-T-C p.Ala182Ala synonymous ANKRD44 1 83308 1.20036E-5 41654 0 3.98397E-6
2-197987507-T-A p.Asp179Val missense ANKRD44 1 83296 1.20054E-5 41648 0 3.18512E-5
2-197987510-A-G p.Leu178Ser missense ANKRD44 3 83288 3.60196E-5 41644 0 9.55171E-5
2-197987511-A-C p.Leu178Val missense ANKRD44 15 83290 1.80094E-4 41645 0 1.24203E-4
2-197987512-G-C p.His177Gln missense ANKRD44 3 83288 3.60196E-5 41644 1 NA
2-197987514-G-A p.His177Tyr missense+splice_region ANKRD44 2 83282 2.40148E-5 41641 0 5.03525E-4
2-197990121-G-C p.His170Gln missense ANKRD44 1 82956 1.20546E-5 41478 0 3.9769E-6
2-197990122-T-C p.His170Arg missense ANKRD44 1 82942 1.20566E-5 41471 0 NA
2-197990131-C-T p.Arg167His missense ANKRD44 3 83000 3.61446E-5 41500 0 2.47133E-5
2-197990134-C-A p.Arg166Leu missense ANKRD44 1 83022 1.2045E-5 41511 0 NA
2-197990134-C-T p.Arg166Gln missense ANKRD44 1 83022 1.2045E-5 41511 0 2.47133E-5
2-197990135-G-T p.Arg166Arg synonymous ANKRD44 1 83020 1.20453E-5 41510 0 NA
2-197990155-T-C p.Asn159Ser missense ANKRD44 3 83056 3.61202E-5 41528 0 3.1837E-5
2-197990161-T-C p.Asn157Ser missense ANKRD44 2 83060 2.4079E-5 41530 0 NA
2-197990161-T-G p.Asn157Thr missense ANKRD44 1 83060 1.20395E-5 41530 0 1.31224E-4
2-197990165-C-T p.Ala156Thr missense ANKRD44 1 83056 1.20401E-5 41528 0 1.64758E-5
2-197990186-T-G p.Asn149His missense ANKRD44 1 82938 1.20572E-5 41469 0 NA
2-197990196-A-G c.439-4T>C splice_region ANKRD44 2 82842 2.41423E-5 41421 0 3.18329E-5
2-197990557-C-A c.438+4G>T splice_region ANKRD44 1 82908 1.20616E-5 41454 0 4.9509E-5
2-197990566-C-T p.Val145Met missense ANKRD44 3 83090 3.61054E-5 41545 0 1.59401E-5
2-197990573-G-A p.Asn142Asn synonymous ANKRD44 6 83166 7.21449E-5 41583 0 5.76796E-5
2-197990577-A-G p.Leu141Pro missense ANKRD44 1 83190 1.20207E-5 41595 0 NA
2-197990582-C-T p.Ala139Ala synonymous ANKRD44 5 83192 6.01019E-5 41596 1 4.11896E-5
2-197990583-G-A p.Ala139Val missense ANKRD44 2 83212 2.4035E-5 41606 0 3.18398E-5
2-197990601-C-T p.Arg133His missense ANKRD44 4 83228 4.80607E-5 41614 0 3.13015E-4
2-197990605-C-T p.Gly132Arg missense ANKRD44 1 83250 1.2012E-5 41625 0 3.97788E-6
2-197990607-C-G p.Gly131Ala missense ANKRD44 2 83260 2.40211E-5 41630 0 0.00251762
2-197990611-G-A p.Arg130* stop_gained ANKRD44 1 83264 1.201E-5 41632 0 NA
2-197990614-C-T p.Asp129Asn missense ANKRD44 1 83292 1.2006E-5 41646 0 1.64734E-5
2-197990615-G-A p.Ser128Ser synonymous ANKRD44 1 83314 1.20028E-5 41657 0 4.11821E-5
2-197990616-G-A p.Ser128Phe missense ANKRD44 1 83324 1.20013E-5 41662 0 NA
2-197990655-G-A p.Ala115Val missense ANKRD44 2 83344 2.39969E-5 41672 0 NA
2-197990672-GT-AA p.Asn109Ile missense ANKRD44 3 83350 3.59928E-5 41675 0 NA
2-197990687-A-G p.His104His synonymous ANKRD44 7 83350 8.39832E-5 41675 0 4.11821E-5
2-197990694-G-A p.Pro102Leu missense ANKRD44 2 83358 2.39929E-5 41679 0 NA
2-197990729-A-T p.Ala90Ala synonymous ANKRD44 1 83306 1.20039E-5 41653 0 3.97722E-6
2-197990738-C-A p.Lys87Asn missense ANKRD44 1 83242 1.20132E-5 41621 0 NA
2-197990741-A-C p.Ile86Met missense ANKRD44 4323 83112 0.0520141 41556 146 0.049375
2-197990749-C-T p.Val84Ile missense ANKRD44 2 83178 2.40448E-5 41589 0 7.4151E-5
2-197990755-C-T p.Val82Ile missense ANKRD44 1 83134 1.20288E-5 41567 0 1.6487E-5
2-198001319-A-G p.Ser78Ser synonymous ANKRD44 22820 82664 0.276057 41332 3465 0.297266
2-198001338-C-T p.Arg72Gln missense ANKRD44 1 83188 1.2021E-5 41594 0 8.23927E-6
2-198001354-G-C p.Leu67Val missense ANKRD44 2 83218 2.40333E-5 41609 0 3.97697E-6
2-198001356-C-T p.Trp66* stop_gained ANKRD44 2 83216 2.40338E-5 41608 0 NA
2-198001360-T-C p.Met1? start_lost ANKRD44 3 83228 3.60456E-5 41614 0 1.64823E-5
2-198001364-G-C p.Asp63Glu missense ANKRD44 1 83226 1.20155E-5 41613 0 NA
2-198001380-C-T p.Arg58His missense ANKRD44 1 83188 1.2021E-5 41594 0 3.18431E-5
2-198001389-G-GACAAAATCAGGAGTTCAATGATCTCTGCATCTCCCAGAAAT c.167-4_167-3insATTTCTGGGAGATGCAGAGATCATTGAACTCCTGATTTTGT splice_region ANKRD44 1 83142 1.20276E-5 41571 0 NA
2-198001389-G-GACAAAATCAGGAGTTCAATGATCTCTGCATCTCCCAGAAATGC c.167-4_167-3insGCATTTCTGGGAGATGCAGAGATCATTGAACTCCTGATTTTGT splice_region ANKRD44 2 83144 2.40547E-5 41572 1 NA
2-198011763-G-A p.Leu52Leu synonymous ANKRD44 1 83170 1.20236E-5 41585 0 1.1937E-5
2-198011764-G-A p.Leu51Leu synonymous ANKRD44 2 83168 2.40477E-5 41584 0 8.28789E-6
2-198011771-A-G p.Ile49Thr missense ANKRD44 1 83196 1.20198E-5 41598 0 1.65527E-5
2-198011782-A-C p.Asp45Glu missense ANKRD44 1 83220 1.20163E-5 41610 0 1.19318E-5
2-198011796-C-T p.Ala41Thr missense ANKRD44 3 83236 3.60421E-5 41618 0 3.57987E-5
2-198011796-C-A p.Ala41Ser missense ANKRD44 4 83238 4.8055E-5 41619 0 3.18613E-5
2-198011797-G-A p.Ala40Ala synonymous ANKRD44 79 83240 9.49063E-4 41620 2 0.00251762
2-198012586-T-A c.36+7A>T splice_region ANKRD44 1 52468 1.90592E-5 26234 0 NA
2-198012587-G-T c.36+6C>A splice_region ANKRD44 2 52470 3.8117E-5 26235 0 3.18492E-5
2-198012605-T-C p.Ile8Met missense ANKRD44 1 52408 1.90811E-5 26204 0 NA
2-198012606-ATC-A p.Glu7fs frameshift ANKRD44 7 52394 1.33603E-4 26197 0 6.57069E-5
2-198012624-A-C p.Leu2Arg missense ANKRD44 1 52318 1.91139E-5 26159 0 NA
2-198051749-G-A c.-29C>T 5_prime_UTR_premature_start_codon_gain ANKRD44 3 83092 3.61046E-5 41546 0 3.18613E-5
2-198051751-G-C p.Thr28Ser missense ANKRD44 1 83120 1.20308E-5 41560 0 NA
2-198051766-G-A p.Thr23Ile missense ANKRD44 1 83182 1.20218E-5 41591 0 NA
2-198051776-T-C p.Ile20Val missense ANKRD44 2 83190 2.40414E-5 41595 0 NA
2-198051783-C-T p.Arg17Arg synonymous ANKRD44 1 83196 1.20198E-5 41598 0 NA
2-198051783-C-A p.Arg17Arg synonymous ANKRD44 1 83196 1.20198E-5 41598 0 NA
2-198051784-C-T p.Arg17Gln missense ANKRD44 1 83192 1.20204E-5 41596 0 3.29516E-5
2-198051785-G-A p.Arg17Trp missense ANKRD44 1 83192 1.20204E-5 41596 0 8.23791E-6
2-198051804-G-A p.Ser10Ser synonymous ANKRD44 1 83132 1.20291E-5 41566 0 0.001875
2-198175293-G-GCCC c.27+8_27+9insGGG splice_region ANKRD44 1 49708 2.01175E-5 24854 0 NA
2-198175296-C-A c.27+6G>T splice_region ANKRD44 1 52410 1.90803E-5 26205 0 NA
2-198175297-G-C c.27+5C>G splice_region ANKRD44 17897 48152 0.371677 24076 3534 0.503246
2-198175297-GC-CA c.27+4_27+5delGCinsTG splice_region ANKRD44 2 52462 3.81228E-5 26231 0 NA
2-198175298-C-A c.27+4G>T splice_region ANKRD44 5 53430 9.35804E-5 26715 0 2.49542E-4
2-198175308-G-C p.Thr7Thr synonymous ANKRD44 3 56804 5.28132E-5 28402 0 7.48951E-5
2-198175313-G-C p.Leu6Val missense ANKRD44 1 60050 1.66528E-5 30025 0 NA
2-198175314-T-G p.Lys5Asn missense ANKRD44 1 60088 1.66423E-5 30044 0 NA
2-198175356-T-G c.-28A>C 5_prime_UTR_premature_start_codon_gain ANKRD44 1 62634 1.59658E-5 31317 0 1.10651E-5
2-198175375-G-C c.-47C>G 5_prime_UTR_premature_start_codon_gain ANKRD44 1 60686 1.64783E-5 30343 0 NA
2-198175393-G-A c.-65C>T 5_prime_UTR_premature_start_codon_gain ANKRD44 3 56154 5.34245E-5 28077 0 4.68671E-4