Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-90272558-T-C c.-203T>C 5_prime_UTR_premature_start_codon_gain ANKRD6 2 10 0.2 5 0 0.0739313
6-90276557-C-T c.-139C>T 5_prime_UTR_premature_start_codon_gain ANKRD6 2 70784 2.8255E-5 35392 0 NA
6-90276611-C-T c.-85C>T 5_prime_UTR_premature_start_codon_gain ANKRD6 1 80128 1.248E-5 40064 0 NA
6-90276624-C-T c.-72C>T 5_prime_UTR_premature_start_codon_gain ANKRD6 2 80740 2.47709E-5 40370 0 3.18532E-5
6-90276639-G-A c.-57G>A 5_prime_UTR_premature_start_codon_gain ANKRD6 4 81216 4.92514E-5 40608 0 NA
6-90276665-C-T c.-31C>T 5_prime_UTR_premature_start_codon_gain ANKRD6 1 81672 1.22441E-5 40836 0 1.19999E-5
6-90276688-C-G c.-8C>G 5_prime_UTR_premature_start_codon_gain ANKRD6 8 81982 9.75824E-5 40991 0 3.1839E-5
6-90276695-C-G c.-1C>G 5_prime_UTR_premature_start_codon_gain ANKRD6 1 82104 1.21797E-5 41052 0 NA
6-90276698-GAGCC-G p.Gln3fs frameshift ANKRD6 1 82112 1.21785E-5 41056 0 NA
6-90276712-C-T p.Ala6Val missense ANKRD6 3 82182 3.65043E-5 41091 0 7.07414E-5
6-90276713-G-A p.Ala6Ala synonymous ANKRD6 1 82180 1.21684E-5 41090 0 2.29211E-5
6-90276716-C-T p.Val7Val synonymous ANKRD6 7 82202 8.51561E-5 41101 0 0.00100705
6-90276717-G-A p.Ala8Thr missense ANKRD6 2 82202 2.43303E-5 41101 0 4.30663E-5
6-90276726-T-C p.Ser11Pro missense ANKRD6 1 82264 1.2156E-5 41132 0 NA
6-90276732-C-T p.Arg13Cys missense ANKRD6 2 82258 2.43137E-5 41129 0 3.59157E-5
6-90276733-G-A p.Arg13His missense ANKRD6 102 82274 0.00123976 41137 0 0.00144835
6-90276736-T-C p.Leu14Pro missense ANKRD6 2 82290 2.43043E-5 41145 0 NA
6-90276740-C-T p.Leu15Leu synonymous ANKRD6 2 82302 2.43007E-5 41151 0 4.22098E-6
6-90276741-G-T p.Val16Leu missense ANKRD6 2 82292 2.43037E-5 41146 0 1.65717E-5
6-90276741-G-A p.Val16Ile missense ANKRD6 1 82292 1.21518E-5 41146 0 4.21305E-6
6-90276748-C-G p.Ala18Gly missense ANKRD6 1 82318 1.2148E-5 41159 0 1.25928E-5
6-90276749-G-A p.Ala18Ala synonymous ANKRD6 1 82332 1.21459E-5 41166 0 6.26096E-5
6-90276763-CAG-C p.Asn25fs frameshift ANKRD6 2 82376 2.42789E-5 41188 0 NA
6-90276765-G-T p.Glu24* stop_gained ANKRD6 1 82382 1.21386E-5 41191 0 3.05782E-5
6-90276771-G-A p.Val26Met missense ANKRD6 1 82362 1.21415E-5 41181 0 7.70986E-5
6-90276780-C-T p.Leu29Phe missense ANKRD6 2 82344 2.42884E-5 41172 0 3.1841E-5
6-90276785-C-T p.Ile30Ile synonymous ANKRD6 1 82364 1.21412E-5 41182 0 NA
6-90276791-G-C p.Lys32Asn missense ANKRD6 2 82350 2.42866E-5 41175 0 9.55292E-5
6-90276794-C-T p.Gly33Gly synonymous ANKRD6 3 82322 3.64423E-5 41161 0 6.25E-4
6-90276795-G-A p.Ala34Thr missense ANKRD6 1 82306 1.21498E-5 41153 0 0.0020141
6-90276800-G-C p.Arg35Ser missense ANKRD6 1 82298 1.2151E-5 41149 0 NA
6-90276802-T-A p.Val36Glu missense ANKRD6 1 82278 1.21539E-5 41139 0 1.78425E-5
6-90276805-C-T p.Ala37Val missense ANKRD6 1 82280 1.21536E-5 41140 0 9.55292E-5
6-90276806-G-A p.Ala37Ala synonymous ANKRD6 1 82266 1.21557E-5 41133 0 0.0020141
6-90276809-T-C p.Val38Val synonymous ANKRD6 3 82258 3.64706E-5 41129 0 6.36902E-5
6-90276815-G-GCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAA c.120_120+1insCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAA splice_donor ANKRD6 2 82226 2.43232E-5 41113 1 NA
6-90276820-CAA-C c.120+6_120+7delAA splice_region ANKRD6 1 82206 1.21646E-5 41103 0 4.46708E-5
6-90305635-C-T p.His41Tyr missense+splice_region ANKRD6 2 81654 2.44936E-5 40827 0 6.25E-4
6-90305641-C-T p.Arg43Trp missense ANKRD6 3 81738 3.67026E-5 40869 0 1.39665E-4
6-90305647-C-G p.Pro45Ala missense ANKRD6 1 81776 1.22285E-5 40888 0 NA
6-90305648-C-G p.Pro45Arg missense ANKRD6 1 81776 1.22285E-5 40888 0 4.15107E-6
6-90305652-G-A p.Leu46Leu synonymous ANKRD6 1 81796 1.22255E-5 40898 0 NA
6-90305653-C-T p.His47Tyr missense ANKRD6 1 81788 1.22267E-5 40894 0 NA
6-90305678-T-A p.Leu55His missense ANKRD6 1 81694 1.22408E-5 40847 0 1.20184E-5
6-90305697-G-T p.Leu61Phe missense ANKRD6 1 81448 1.22778E-5 40724 0 NA
6-90305713-G-A p.Asp67Asn missense ANKRD6 2 80952 2.4706E-5 40476 0 2.939E-4
6-90305730-T-C p.Asp72Asp synonymous ANKRD6 1 80188 1.24707E-5 40094 0 3.18492E-5
6-90305733-T-C p.Asp73Asp splice_region+synonymous ANKRD6 3 79946 3.75253E-5 39973 0 1.40245E-5
6-90312750-G-A p.Gly74Gly splice_region+synonymous ANKRD6 4 80586 4.96364E-5 40293 0 NA
6-90312770-G-T p.Arg81Leu missense ANKRD6 5 81010 6.17208E-5 40505 0 0.00151668
6-90312777-A-G p.Thr83Thr synonymous ANKRD6 2 81084 2.46658E-5 40542 0 1.47167E-5
6-90312781-G-T p.Val85Leu missense ANKRD6 1 81078 1.23338E-5 40539 0 NA
6-90312791-C-T p.Thr88Met missense ANKRD6 5 81120 6.16371E-5 40560 0 6.37389E-5
6-90312792-G-A p.Thr88Thr synonymous ANKRD6 1 81162 1.2321E-5 40581 0 3.18735E-5
6-90312801-C-T p.Ile91Ile synonymous ANKRD6 4 81190 4.92671E-5 40595 0 0.00100908
6-90312802-G-A p.Ala92Thr missense ANKRD6 2 81180 2.46366E-5 40590 0 5.66701E-5
6-90312803-C-T p.Ala92Val missense ANKRD6 3 81156 3.69658E-5 40578 0 1.56472E-4
6-90312804-G-A p.Ala92Ala synonymous ANKRD6 3 81158 3.69649E-5 40579 0 5.04541E-4
6-90312806-C-T p.Ala93Val missense ANKRD6 3 81114 3.6985E-5 40557 0 6.37511E-5
6-90312807-G-A p.Ala93Ala synonymous ANKRD6 4 81154 4.9289E-5 40577 0 4.31394E-5
6-90312808-C-T p.Leu94Phe missense ANKRD6 4 81172 4.92781E-5 40586 0 NA
6-90312808-C-G p.Leu94Val missense ANKRD6 2 81172 2.4639E-5 40586 0 NA
6-90312816-C-T p.His96His synonymous ANKRD6 3 81146 3.69704E-5 40573 0 2.9286E-5
6-90312824-G-A p.Cys99Tyr missense ANKRD6 1 81152 1.23226E-5 40576 0 4.30582E-6
6-90312826-G-A p.Ala100Thr missense ANKRD6 1 81118 1.23277E-5 40559 0 3.18654E-5
6-90312832-G-A p.Asp102Asn missense+splice_region ANKRD6 1 81068 1.23353E-5 40534 0 NA
6-90312836-G-A p.Arg103Lys missense ANKRD6 2 81058 2.46737E-5 40529 0 6.37227E-5
6-90312839-A-G p.Gln104Arg missense ANKRD6 1 80996 1.23463E-5 40498 0 NA
6-90312847-G-GATGGGAATACAGCCTTGCATGAAGCATCCTGGCA c.318+1_318+2insATGGGAATACAGCCTTGCATGAAGCATCCTGGCA splice_donor ANKRD6 1 80842 1.23698E-5 40421 0 NA
6-90312848-T-G c.318+2T>G splice_donor ANKRD6 1 80816 1.23738E-5 40408 0 NA
6-90312852-T-G c.318+6T>G splice_region ANKRD6 1 80812 1.23744E-5 40406 0 NA
6-90315721-C-G c.319-5C>G splice_region ANKRD6 1 81738 1.22342E-5 40869 0 NA
6-90315745-A-G p.His113Arg missense ANKRD6 2 82034 2.43801E-5 41017 0 NA
6-90315752-A-T p.Ala115Ala synonymous ANKRD6 3 82016 3.65782E-5 41008 0 3.56977E-5
6-90315761-T-C p.His118His splice_region+synonymous ANKRD6 1 82064 1.21856E-5 41032 0 NA
6-90315766-T-G p.Phe120Cys missense ANKRD6 1 82034 1.21901E-5 41017 0 NA
6-90315771-C-G p.Gln122Glu missense ANKRD6 2621 81946 0.0319845 40973 81 0.0635559
6-90315771-C-T p.Gln122* stop_gained ANKRD6 1 82028 1.2191E-5 41014 0 4.46194E-6
6-90315776-A-G p.Ser123Ser synonymous ANKRD6 237 81970 0.0028913 40985 3 0.00611621
6-90315780-A-C p.Lys125Gln missense ANKRD6 3 81964 3.66014E-5 40982 0 6.37024E-5
6-90315788-C-T p.Leu127Leu synonymous ANKRD6 3 81862 3.6647E-5 40931 0 1.38389E-5
6-90315789-A-G p.Ile128Val missense ANKRD6 65524 80134 0.81768 40067 27001 0.835644
6-90315797-A-G p.Ala130Ala synonymous ANKRD6 11 81752 1.34553E-4 40876 0 4.86627E-6
6-90315807-G-A p.Val134Met missense ANKRD6 3 81446 3.68342E-5 40723 0 2.40419E-5
6-90315810-C-G p.Leu135Val missense ANKRD6 1 81366 1.22901E-5 40683 0 1.48324E-4
6-90315829-G-C c.417+5G>C splice_region ANKRD6 1 80632 1.2402E-5 40316 0 3.1839E-5
6-90321986-C-T c.418-5C>T splice_region ANKRD6 1 81024 1.2342E-5 40512 0 NA
6-90321992-C-T p.Ala140Val missense+splice_region ANKRD6 8 81024 9.87362E-5 40512 0 4.87621E-5
6-90321996-G-A p.Gly141Gly synonymous ANKRD6 1 81140 1.23244E-5 40570 0 4.86571E-5
6-90322018-T-G p.Cys149Gly missense ANKRD6 2 81260 2.46124E-5 40630 0 NA
6-90322027-A-C p.Ser152Arg missense ANKRD6 1 81534 1.22648E-5 40767 0 5.66579E-6
6-90322044-G-A p.Thr157Thr synonymous ANKRD6 16 81556 1.96184E-4 40778 0 0.00253036
6-90322045-C-T p.Arg158Cys missense ANKRD6 1 81504 1.22693E-5 40752 0 4.33689E-5
6-90322048-G-A p.Val159Ile missense ANKRD6 5 81492 6.13557E-5 40746 1 4.3482E-5
6-90322056-G-A p.Leu161Leu synonymous ANKRD6 1 81524 1.22663E-5 40762 0 NA
6-90322060-G-A p.Ala163Thr missense ANKRD6 1 81496 1.22705E-5 40748 0 3.1841E-5
6-90322062-C-T p.Ala163Ala synonymous ANKRD6 3 81442 3.6836E-5 40721 0 5.06073E-4
6-90322067-C-T p.Ser165Phe missense ANKRD6 2 81426 2.45622E-5 40713 0 2.76396E-4
6-90322069-C-T p.Arg166Cys missense ANKRD6 1 81378 1.22883E-5 40689 0 5.06073E-4
6-90322070-G-A p.Arg166His missense ANKRD6 3 81362 3.68723E-5 40681 0 1.85494E-4
6-90322072-G-A p.Ala167Thr missense ANKRD6 6 81310 7.37917E-5 40655 0 2.34192E-4
6-90322078-C-T p.Leu169Phe missense ANKRD6 23 81298 2.8291E-4 40649 0 0.00125
6-90322080-C-A p.Leu169Leu synonymous ANKRD6 18 81268 2.21489E-4 40634 0 1.43021E-4
6-90322089-T-C p.Asn172Asn splice_region+synonymous ANKRD6 1 81178 1.23186E-5 40589 0 3.1841E-5
6-90322090-G-GCAGGAGACACCTGTTTGCACGTTGCTGCGCGCTATAATCAC c.516+1_516+2insCAGGAGACACCTGTTTGCACGTTGCTGCGCGCTATAATCAC splice_donor ANKRD6 2 81176 2.46378E-5 40588 1 NA
6-90323504-T-C c.517-7T>C splice_region ANKRD6 1 82438 1.21303E-5 41219 0 3.1841E-5
6-90323506-C-T c.517-5C>T splice_region ANKRD6 1 82430 1.21315E-5 41215 0 3.39489E-5
6-90323507-G-A c.517-4G>A splice_region ANKRD6 1 82420 1.2133E-5 41210 0 3.38616E-5
6-90323512-C-T p.Ala173Val missense+splice_region ANKRD6 7 82454 8.48958E-5 41227 0 2.41278E-5
6-90323521-C-A p.Thr176Asn missense ANKRD6 13 82486 1.57602E-4 41243 0 0.00125
6-90323524-G-A p.Cys177Tyr missense ANKRD6 1 82498 1.21215E-5 41249 0 NA
6-90323531-C-T p.His179His synonymous ANKRD6 1 82488 1.2123E-5 41244 0 4.01361E-6
6-90323539-C-T p.Ala182Val missense ANKRD6 4 82504 4.84825E-5 41252 0 2.40774E-5
6-90323540-G-A p.Ala182Ala synonymous ANKRD6 3 82498 3.63645E-5 41249 0 6.36862E-5
6-90323541-C-T p.Arg183Cys missense ANKRD6 4 82500 4.84848E-5 41250 0 6.36699E-5
6-90323542-G-A p.Arg183His missense ANKRD6 1 82504 1.21206E-5 41252 0 3.32005E-5
6-90323545-A-G p.Tyr184Cys missense ANKRD6 2 82504 2.42412E-5 41252 0 3.1839E-5
6-90323554-T-G p.Leu187Trp missense ANKRD6 1 82512 1.21194E-5 41256 0 6.25E-4
6-90323559-A-G p.Ile189Val missense ANKRD6 2 82502 2.42418E-5 41251 0 2.48748E-5
6-90323560-T-G p.Ile189Ser missense ANKRD6 1 82496 1.21218E-5 41248 0 NA
6-90323568-C-T p.Leu192Phe missense ANKRD6 3 82508 3.63601E-5 41254 0 5.21615E-5
6-90323593-T-G p.Val200Gly missense ANKRD6 1 82450 1.21286E-5 41225 0 NA
6-90326271-A-G c.616-7A>G splice_region ANKRD6 1 82606 1.21057E-5 41303 0 3.18329E-5
6-90326288-C-T p.Thr209Ile missense ANKRD6 2 82696 2.4185E-5 41348 0 4.14339E-5
6-90326290-G-C p.Ala210Pro missense ANKRD6 1 82700 1.20919E-5 41350 0 NA
6-90326299-G-A p.Val213Ile missense ANKRD6 1 82726 1.20881E-5 41363 0 1.65708E-5
6-90326321-A-G p.Lys220Arg missense ANKRD6 1 82766 1.20823E-5 41383 0 4.01175E-6
6-90326322-G-C p.Lys220Asn missense ANKRD6 1 82766 1.20823E-5 41383 0 NA
6-90326325-G-T p.Lys221Asn missense ANKRD6 1 82776 1.20808E-5 41388 0 NA
6-90326330-C-T p.Ala223Val missense ANKRD6 1 82768 1.2082E-5 41384 0 9.55231E-5
6-90326334-A-G p.Lys224Lys synonymous ANKRD6 1 82790 1.20788E-5 41395 0 NA
6-90326337-C-G p.Ile225Met missense ANKRD6 1 82784 1.20796E-5 41392 0 8.28418E-6
6-90326346-A-C p.Glu228Asp missense ANKRD6 1 82772 1.20814E-5 41386 0 NA
6-90326350-G-A p.Gly230Arg missense ANKRD6 1 82756 1.20837E-5 41378 0 0.0015121
6-90326358-T-A p.Asp232Glu missense ANKRD6 1 82716 1.20896E-5 41358 0 3.1835E-5
6-90326360-C-T p.Thr233Met missense ANKRD6 7863 82536 0.0952675 41268 688 0.128353
6-90326365-A-G p.Ile235Val missense ANKRD6 2 82690 2.41867E-5 41345 0 2.40741E-5
6-90326374-A-C p.Asn238His missense+splice_region ANKRD6 1 82650 1.20992E-5 41325 0 NA
6-90326596-C-T p.Pro67Ser missense ANKRD6 1 26600 3.7594E-5 13300 0 NA
6-90326603-G-A p.Cys69Tyr missense ANKRD6 3 24608 1.21912E-4 12304 0 1.30178E-4
6-90327674-C-T p.Ala239Val missense+splice_region ANKRD6 2 82158 2.43433E-5 41079 0 NA
6-90327676-G-A p.Gly240Ser missense ANKRD6 1 82186 1.21675E-5 41093 0 NA
6-90327679-C-T p.Gln241* stop_gained ANKRD6 2 82210 2.43279E-5 41105 0 NA
6-90327687-G-A p.Pro243Pro synonymous ANKRD6 1 82340 1.21448E-5 41170 0 6.37389E-5
6-90327692-A-AGACT p.Ala247fs frameshift ANKRD6 1 82400 1.21359E-5 41200 0 3.18654E-5
6-90327696-T-G p.Thr246Thr synonymous ANKRD6 1 82432 1.21312E-5 41216 0 NA
6-90327701-G-A p.Arg248His missense ANKRD6 1 82474 1.2125E-5 41237 0 3.31219E-5
6-90327702-C-A p.Arg248Arg synonymous ANKRD6 30 82482 3.63716E-4 41241 0 6.6879E-4
6-90327705-C-T p.Tyr249Tyr synonymous ANKRD6 1 82510 1.21197E-5 41255 0 NA
6-90327712-A-G p.Asn252Asp missense ANKRD6 2 82524 2.42354E-5 41262 0 6.37227E-5
6-90327714-C-G p.Asn252Lys missense ANKRD6 4 82530 4.84672E-5 41265 0 4.14031E-5
6-90327716-C-T p.Pro253Leu missense ANKRD6 7 82536 8.48115E-5 41268 0 1.15927E-4
6-90327716-C-G p.Pro253Arg missense ANKRD6 2 82536 2.42319E-5 41268 0 4.96829E-5
6-90327717-G-A p.Pro253Pro synonymous ANKRD6 1 82534 1.21162E-5 41267 0 8.28048E-6
6-90327724-G-T p.Ala256Ser missense ANKRD6 1 82538 1.21156E-5 41269 0 1.6561E-5
6-90327725-C-T p.Ala256Val missense ANKRD6 1 82538 1.21156E-5 41269 0 8.28048E-6
6-90327727-C-T p.Leu257Phe missense ANKRD6 1 82546 1.21145E-5 41273 0 8.28048E-6
6-90327738-TA-T p.Ala262fs frameshift ANKRD6 1 82544 1.21148E-5 41272 0 4.01168E-6
6-90327743-C-G p.Ala262Gly missense ANKRD6 11 82546 1.33259E-4 41273 0 6.62449E-5
6-90327766-C-T p.Leu270Phe missense ANKRD6 1 82494 1.21221E-5 41247 0 NA
6-90327768-T-A p.Leu270Leu synonymous ANKRD6 1 82488 1.2123E-5 41244 0 NA
6-90327771-C-T p.Ser271Ser synonymous ANKRD6 1 82478 1.21244E-5 41239 0 8.28061E-6
6-90327777-A-G p.Val273Val synonymous ANKRD6 2 82446 2.42583E-5 41223 0 3.31235E-5
6-90327787-C-T p.Arg277Trp missense ANKRD6 3 82380 3.64166E-5 41190 0 4.14188E-5
6-90327788-G-A p.Arg277Gln missense ANKRD6 2 82374 2.42795E-5 41187 0 1.07703E-4
6-90327802-G-T p.Val282Phe missense ANKRD6 1 82236 1.21601E-5 41118 0 NA
6-90327820-A-C p.Asn288His missense ANKRD6 1 81956 1.22017E-5 40978 0 NA
6-90327821-A-G p.Asn288Ser missense ANKRD6 2 81936 2.44093E-5 40968 0 3.18512E-5
6-90327827-T-C p.Leu290Pro missense ANKRD6 1 81776 1.22285E-5 40888 0 3.18431E-5
6-90327832-C-T p.Pro292Ser missense ANKRD6 3 81598 3.67656E-5 40799 0 1.61023E-5
6-90327842-C-T p.Thr295Ile missense ANKRD6 1 80978 1.2349E-5 40489 0 8.08957E-6
6-90327854-T-C p.Met299Thr missense ANKRD6 1 80002 1.24997E-5 40001 0 8.9907E-6
6-90327870-AG-A p.Val305fs frameshift ANKRD6 2 77614 2.57685E-5 38807 0 NA
6-90327873-G-A p.Val305Val synonymous ANKRD6 22489 49710 0.452404 24855 2852 0.683488
6-90327876-G-C p.Glu306Asp missense ANKRD6 1 76448 1.30808E-5 38224 0 4.47732E-6
6-90331647-C-T p.Arg267Cys missense ANKRD6 2 82544 2.42295E-5 41272 0 5.62335E-5
6-90331648-G-T p.Arg267Leu missense ANKRD6 1 82550 1.21139E-5 41275 0 NA
6-90331662-C-T p.Arg272* stop_gained ANKRD6 2 82540 2.42307E-5 41270 0 1.66478E-5
6-90331663-G-A p.Arg272Gln missense ANKRD6 4 82550 4.84555E-5 41275 0 8.02955E-6
6-90331668-C-T p.Leu274Leu synonymous ANKRD6 9 82554 1.0902E-4 41277 0 1.59388E-4
6-90331673-G-A p.Arg275Arg synonymous ANKRD6 1 82544 1.21148E-5 41272 0 NA
6-90331675-A-G p.Lys276Arg missense ANKRD6 1 82546 1.21145E-5 41273 0 1.20429E-5
6-90331689-C-T p.Leu281Phe missense ANKRD6 1 82490 1.21227E-5 41245 0 8.30799E-6
6-90331712-G-A p.Gln288Gln synonymous ANKRD6 45 82170 5.47645E-4 41085 0 0.00125945
6-90331719-C-T p.Pro291Ser missense ANKRD6 1 82074 1.21841E-5 41037 0 NA
6-90331753-G-A c.897+8G>A splice_region ANKRD6 5 81160 6.16067E-5 40580 0 3.37445E-5
6-90333132-A-C p.Ser301Arg missense ANKRD6 2 82008 2.43879E-5 41004 0 8.1244E-6
6-90333134-T-C p.Ser301Ser synonymous ANKRD6 1 82018 1.21924E-5 41009 0 9.83439E-6
6-90333136-T-C p.Val302Ala missense ANKRD6 4 82038 4.87579E-5 41019 0 1.27413E-4
6-90333142-C-G p.Ala304Gly missense ANKRD6 3 82084 3.65479E-5 41042 0 9.55597E-5
6-90333150-A-T p.Thr307Ser missense ANKRD6 1 82096 1.21809E-5 41048 0 4.07807E-6
6-90333153-C-T p.Pro308Ser missense ANKRD6 2 82110 2.43576E-5 41055 0 1.07041E-5
6-90333155-C-T p.Pro308Pro synonymous ANKRD6 1 82130 1.21758E-5 41065 0 NA
6-90333161-T-A p.Ser310Arg missense ANKRD6 41 82130 4.99209E-4 41065 1 3.82629E-4
6-90333167-G-A p.Gln312Gln synonymous ANKRD6 1 82154 1.21723E-5 41077 0 4.12042E-6
6-90333179-A-G c.*284A>G splice_region ANKRD6 1 82086 1.21823E-5 41043 0 4.16927E-6
6-90333180-AAAG-A p.Glu319del disruptive_inframe_deletion ANKRD6 3 82086 3.6547E-5 41043 0 1.66856E-5
6-90333191-C-T p.Ala320Ala synonymous ANKRD6 1 82054 1.21871E-5 41027 0 NA
6-90333194-A-C p.Arg321Ser missense ANKRD6 1 82034 1.21901E-5 41017 0 6.37105E-5
6-90333208-C-T p.Ser326Leu missense ANKRD6 3 81972 3.65979E-5 40986 0 0.0010101
6-90333212-C-T p.Ala327Ala synonymous ANKRD6 1 81930 1.22055E-5 40965 0 3.18674E-5
6-90333240-A-C p.Arg337Arg synonymous ANKRD6 62 81608 7.59729E-4 40804 0 0.00216712
6-90333252-T-A p.Ser341Thr missense ANKRD6 1 81298 1.23004E-5 40649 0 NA
6-90333258-C-T p.Pro343Ser missense ANKRD6 3 81090 3.69959E-5 40545 0 2.55053E-4
6-90333263-G-GGT c.1032_1032+1insGT splice_donor ANKRD6 2 80988 2.4695E-5 40494 1 NA
6-90333598-CA-TG p.Ala347Val missense ANKRD6 1 82412 1.21342E-5 41206 0 NA
6-90333599-A-G p.Ala347Ala synonymous ANKRD6 66234 79008 0.83832 39504 27813 0.86749
6-90333611-C-A p.Pro351Pro synonymous ANKRD6 1 82520 1.21183E-5 41260 0 NA
6-90333612-A-G p.Thr352Ala missense ANKRD6 28 82514 3.39336E-4 41257 1 3.19081E-5
6-90333612-A-C p.Thr352Pro missense ANKRD6 1 82514 1.21192E-5 41257 0 NA
6-90333623-C-A p.Ala355Ala synonymous ANKRD6 1 82564 1.21118E-5 41282 0 NA
6-90333623-C-T p.Ala355Ala synonymous ANKRD6 1 82564 1.21118E-5 41282 0 3.18735E-5
6-90333624-G-A p.Asp356Asn missense ANKRD6 11 82566 1.33227E-4 41283 0 6.25E-4
6-90333654-C-T p.His366Tyr missense ANKRD6 1 82584 1.21089E-5 41292 0 6.37064E-5
6-90333660-C-A p.His368Asn missense ANKRD6 1 82570 1.21109E-5 41285 0 4.01213E-6
6-90333661-A-T p.His368Leu missense ANKRD6 1 82570 1.21109E-5 41285 0 NA
6-90333663-A-C p.Asn369His missense ANKRD6 5 82576 6.05503E-5 41288 0 3.18817E-5
6-90333664-A-G p.Asn369Ser missense ANKRD6 2 82580 2.42189E-5 41290 0 NA
6-90333676-A-G p.Lys373Arg missense ANKRD6 2 82572 2.42213E-5 41286 0 1.27413E-4
6-90333680-G-A p.Arg374Arg synonymous ANKRD6 3 82566 3.63346E-5 41283 0 6.37227E-5
6-90333691-G-A p.Arg378Gln missense ANKRD6 7 82546 8.48012E-5 41273 0 1.24445E-4
6-90333699-T-TCCCCAC p.Pro384_Pro385dup disruptive_inframe_insertion ANKRD6 2 82542 2.42301E-5 41271 0 NA
6-90333711-C-T p.Pro385Ser missense ANKRD6 1 82516 1.21189E-5 41258 0 8.04939E-6
6-90333716-T-C p.His386His synonymous ANKRD6 2 82476 2.42495E-5 41238 0 0.001875
6-90333727-C-T p.Ala390Val missense ANKRD6 6 82470 7.27537E-5 41235 0 1.60948E-4
6-90333728-G-A p.Ala390Ala synonymous ANKRD6 8 82464 9.7012E-5 41232 0 2.02351E-4
6-90333728-G-T p.Ala390Ala synonymous ANKRD6 3 82464 3.63795E-5 41232 0 1.01574E-4
6-90333729-T-C p.Tyr391His missense ANKRD6 1 82462 1.21268E-5 41231 0 4.0455E-6
6-90333732-C-T p.Gln392* stop_gained ANKRD6 1 82478 1.21244E-5 41239 0 NA
6-90333734-G-A p.Gln392Gln synonymous ANKRD6 2 82474 2.42501E-5 41237 0 0.0015681
6-90333743-A-G p.Thr395Thr synonymous ANKRD6 1 82446 1.21292E-5 41223 0 3.22061E-5
6-90333750-C-T p.Arg398Trp missense ANKRD6 1 82430 1.21315E-5 41215 0 1.91644E-4
6-90333751-G-A p.Arg398Gln missense ANKRD6 2 82392 2.42742E-5 41196 0 6.25E-4
6-90333760-A-G p.Asp401Gly missense ANKRD6 1 82388 1.21377E-5 41194 0 4.10543E-6
6-90333772-T-C p.Met405Thr missense ANKRD6 1 82306 1.21498E-5 41153 0 NA
6-90334249-CTCTC-TTTTT c.1219-9_1219-5delCTCTCinsTTTTT splice_region ANKRD6 1 82702 1.20916E-5 41351 0 NA
6-90334263-A-G p.Pro408Pro synonymous ANKRD6 14 82756 1.69172E-4 41378 0 6.25E-4
6-90334277-G-A p.Arg413Gln missense ANKRD6 2 82766 2.41645E-5 41383 0 6.36943E-5
6-90334303-G-A p.Glu422Lys missense ANKRD6 1 82794 1.20782E-5 41397 0 5.92515E-6
6-90334311-G-A p.Gln424Gln synonymous ANKRD6 1 82796 1.20779E-5 41398 0 NA
6-90334325-T-C p.Val429Ala missense ANKRD6 3 82788 3.62371E-5 41394 0 5.39776E-6
6-90334353-G-A p.Ser438Ser synonymous ANKRD6 9 82760 1.08748E-4 41380 0 1.58772E-4
6-90334358-A-T p.Gln440Leu missense ANKRD6 1 82756 1.20837E-5 41378 0 NA
6-90334361-A-G p.Asp441Gly missense ANKRD6 2 82746 2.41704E-5 41373 0 NA
6-90334363-A-C p.Lys442Gln missense ANKRD6 10 82746 1.20852E-4 41373 0 3.03483E-4
6-90334376-A-G p.Lys446Arg missense ANKRD6 7 82720 8.46228E-5 41360 0 1.27405E-4
6-90334378-C-G p.Leu447Val missense ANKRD6 1 82710 1.20904E-5 41355 0 NA
6-90334392-G-A p.Glu451Glu synonymous ANKRD6 1 82672 1.2096E-5 41336 0 0.00100908
6-90334400-C-T p.Thr454Ile missense ANKRD6 6 82634 7.26093E-5 41317 0 3.39386E-5
6-90334410-A-AATGCGTGTTTTGGACAAGCTGATGGTTGAGCGACTTTCT c.1371_1371+1insATGCGTGTTTTGGACAAGCTGATGGTTGAGCGACTTTCT splice_donor ANKRD6 1 82592 1.21077E-5 41296 0 NA
6-90337271-AGTCTTACACTCTGCTCCACTTCACTCCTAGATGCGTGTTTTG-A p.Met458_Asp462del splice_acceptor ANKRD6 1 82346 1.21439E-5 41173 0 NA
6-90337302-A-C p.Met458Leu missense+splice_region ANKRD6 513 82610 0.0062099 41305 8 0.0133482
6-90337305-C-T p.Arg459Cys missense ANKRD6 2 82640 2.42014E-5 41320 0 5.03525E-4
6-90337305-CG-C p.Arg459fs frameshift ANKRD6 1 82640 1.21007E-5 41320 0 8.02736E-6
6-90337307-T-C p.Arg459Arg synonymous ANKRD6 1 82660 1.20978E-5 41330 0 NA
6-90337313-G-C p.Leu461Phe missense ANKRD6 1 82684 1.20942E-5 41342 0 NA
6-90337333-G-T p.Arg468Leu missense ANKRD6 1 82688 1.20937E-5 41344 0 NA
6-90337339-C-G p.Ser470Cys missense ANKRD6 1 82694 1.20928E-5 41347 0 NA
6-90337351-C-T p.Thr474Met missense ANKRD6 2 82660 2.41955E-5 41330 0 3.18735E-5
6-90337352-G-C p.Thr474Thr synonymous ANKRD6 1 82668 1.20966E-5 41334 0 1.65785E-5
6-90337357-G-A p.Cys476Tyr missense ANKRD6 2 82658 2.41961E-5 41329 0 NA
6-90337365-C-T p.Arg479Cys missense ANKRD6 4 82668 4.83863E-5 41334 0 4.14463E-5
6-90337366-G-A p.Arg479His missense ANKRD6 29 82666 3.50809E-4 41333 0 3.64752E-4
6-90337375-A-G p.Gln482Arg missense ANKRD6 2 82650 2.41984E-5 41325 0 3.31609E-5
6-90337380-TCAGACA-T p.Asp485_Thr486del disruptive_inframe_deletion ANKRD6 2 82642 2.42008E-5 41321 0 NA
6-90337389-G-C p.Glu487Gln missense ANKRD6 2 82624 2.4206E-5 41312 0 2.49012E-5
6-90337400-G-C p.Glu490Asp missense ANKRD6 59 82588 7.14389E-4 41294 0 0.0012418
6-90337402-G-A p.Gly491Glu missense ANKRD6 1 82590 1.2108E-5 41295 0 4.01471E-6
6-90337403-G-A p.Gly491Gly synonymous ANKRD6 1 82586 1.21086E-5 41293 0 NA
6-90337410-C-T p.Arg494* stop_gained ANKRD6 2 82568 2.42225E-5 41284 0 1.67732E-5
6-90337411-G-A p.Arg494Gln missense ANKRD6 1 82570 1.21109E-5 41285 0 8.41015E-6
6-90337413-C-G p.Gln495Glu missense+splice_region ANKRD6 1 82566 1.21115E-5 41283 0 8.43199E-6
6-90338816-G-GT c.1486-4dupT splice_region ANKRD6 12744 73418 0.173581 36709 701 0.30511
6-90338816-GT-G c.1486-4delT splice_region ANKRD6 14 81554 1.71665E-4 40777 0 0.032952
6-90338816-G-GTT c.1486-5_1486-4dupTT splice_region ANKRD6 148 82064 0.00180347 41032 0 0.00334411
6-90338839-G-C p.Leu498Phe missense ANKRD6 46 82606 5.5686E-4 41303 0 2.77536E-4
6-90338844-A-T p.Asp500Val missense ANKRD6 52 82632 6.29296E-4 41316 1 6.27353E-4
6-90338863-C-T p.Cys506Cys synonymous ANKRD6 14219 81942 0.173525 40971 1205 0.177312
6-90338863-CAT-TAC p.CysMet506CysThr missense ANKRD6 1 82680 1.20948E-5 41340 0 NA
6-90338864-A-G p.Met507Val missense ANKRD6 1 82682 1.20945E-5 41341 0 NA
6-90338865-T-C p.Met507Thr missense ANKRD6 1 82684 1.20942E-5 41342 0 3.21668E-5
6-90338876-C-A p.Gln511Lys missense ANKRD6 1 82692 1.20931E-5 41346 0 8.29187E-6
6-90338884-G-A p.Leu513Leu synonymous ANKRD6 1 82678 1.20951E-5 41339 0 NA
6-90338896-T-C p.Leu517Leu synonymous ANKRD6 2 82694 2.41856E-5 41347 0 NA
6-90338912-G-C p.Ala523Pro missense ANKRD6 62 82662 7.50042E-4 41331 0 0.00139186
6-90338913-C-T p.Ala523Val missense ANKRD6 3 82650 3.62976E-5 41325 0 3.20225E-5
6-90338915-T-A p.Cys524Ser missense ANKRD6 2 82658 2.41961E-5 41329 0 NA
6-90338920-A-G p.Arg525Arg synonymous ANKRD6 1 82656 1.20983E-5 41328 0 7.45663E-5
6-90338954-A-G p.Thr537Ala missense ANKRD6 2 82606 2.42113E-5 41303 0 NA
6-90338961-A-G p.Asn94Ser missense ANKRD6 1 82590 1.2108E-5 41295 0 3.19264E-5
6-90338964-C-A p.Pro95Gln missense ANKRD6 43 82566 5.20795E-4 41283 0 0.00114987
6-90338964-C-T p.Pro95Leu missense ANKRD6 1 82568 1.21112E-5 41284 0 1.60604E-5
6-90338968-CA-C p.Thr97fs frameshift ANKRD6 1 82564 1.21118E-5 41282 0 NA
6-90338976-G-A p.Ser99Asn missense ANKRD6 3 82526 3.63522E-5 41263 0 3.19387E-5
6-90338989-A-G p.Gln103Gln synonymous ANKRD6 2 82468 2.42518E-5 41234 0 3.19407E-5
6-90338999-G-A p.Asp107Asn missense ANKRD6 9 82386 1.09242E-4 41193 0 3.00578E-4
6-90339000-A-T p.Asp107Val missense ANKRD6 6 82366 7.28456E-5 41183 0 9.57916E-5
6-90339008-C-T p.Leu110Phe missense ANKRD6 10 82360 1.21418E-4 41180 0 2.55297E-4
6-90339013-G-A p.Leu111Leu synonymous ANKRD6 3 82314 3.64458E-5 41157 0 3.77663E-5
6-90339025-A-G p.Ala115Ala synonymous ANKRD6 1 82228 1.21613E-5 41114 0 NA
6-90339039-C-T p.Thr120Met missense ANKRD6 12 82106 1.46153E-4 41053 0 6.25E-4
6-90339040-G-A p.Thr120Thr synonymous ANKRD6 3 82088 3.65461E-5 41044 0 3.91543E-5
6-90339050-G-A p.Ala124Thr missense ANKRD6 22 81862 2.68745E-4 40931 0 0.00215548
6-90339070-G-A p.Trp130* stop_gained ANKRD6 1 81398 1.22853E-5 40699 0 NA
6-90340152-G-A p.Gly538Asp missense+splice_region ANKRD6 2 82202 2.43303E-5 41101 0 NA
6-90340157-G-A p.Asp540Asn missense ANKRD6 1 82262 1.21563E-5 41131 0 NA
6-90340157-G-C p.Asp540His missense ANKRD6 1 82262 1.21563E-5 41131 0 NA
6-90340162-A-G p.Gln541Gln synonymous ANKRD6 2 82360 2.42836E-5 41180 0 3.18451E-5
6-90340170-T-C p.Val544Ala missense ANKRD6 1 82378 1.21392E-5 41189 0 NA
6-90340179-G-A p.Gly547Asp missense ANKRD6 2 82434 2.42618E-5 41217 0 1.01184E-4
6-90340187-G-A p.Ala550Thr missense ANKRD6 223 82472 0.00270395 41236 5 0.010275
6-90340189-A-G p.Ala550Ala synonymous ANKRD6 1 82478 1.21244E-5 41239 0 4.02207E-6
6-90340196-G-A p.Asp553Asn missense ANKRD6 1 82484 1.21236E-5 41242 0 5.22265E-5
6-90340199-A-G p.Ser554Gly missense ANKRD6 4 82492 4.84895E-5 41246 0 NA
6-90340212-TG-T p.Val559fs frameshift ANKRD6 2 82456 2.42554E-5 41228 0 NA
6-90340221-C-A p.Pro561His missense ANKRD6 1 82458 1.21274E-5 41229 0 NA
6-90340225-A-G p.Lys562Lys synonymous ANKRD6 2 82474 2.42501E-5 41237 0 3.21063E-5
6-90340230-A-G p.Lys564Arg missense ANKRD6 7 82464 8.48855E-5 41232 0 4.45718E-4
6-90340233-CCCT-C p.Leu566del conservative_inframe_deletion ANKRD6 2 82436 2.42612E-5 41218 0 NA
6-90340246-T-G p.Thr569Thr synonymous ANKRD6 4 82434 4.85237E-5 41217 0 4.01481E-6
6-90340253-C-T p.Gln572* stop_gained ANKRD6 1 82422 1.21327E-5 41211 0 8.31615E-6
6-90340254-A-C p.Gln572Pro missense ANKRD6 5 82436 6.06531E-5 41218 0 8.31615E-6
6-90340256-A-C p.Arg573Arg synonymous ANKRD6 1 82428 1.21318E-5 41214 0 NA
6-90340261-C-A p.Leu574Leu synonymous ANKRD6 2 82416 2.42671E-5 41208 0 8.32085E-6
6-90340273-G-C p.Leu151Leu splice_region+synonymous ANKRD6 2 82360 2.42836E-5 41180 0 NA
6-90340276-G-A p.Ser579Ser synonymous ANKRD6 42130 82024 0.51363 41012 11067 0.53777
6-90340286-T-G p.Cys583Gly missense ANKRD6 1 82410 1.21345E-5 41205 0 NA
6-90340287-G-A p.Cys583Tyr missense ANKRD6 2 82416 2.42671E-5 41208 0 3.1835E-5
6-90340293-G-A p.Gly585Asp missense ANKRD6 1 82376 1.21395E-5 41188 0 8.04686E-6
6-90340296-C-T p.Ser586Phe missense ANKRD6 6 82400 7.28155E-5 41200 0 6.25E-4
6-90340299-G-A p.Arg587Gln missense ANKRD6 5 82368 6.07032E-5 41184 0 2.41458E-5
6-90340305-G-A p.Arg589Lys missense ANKRD6 1 82378 1.21392E-5 41189 0 1.20687E-5
6-90340309-C-A p.Asn590Lys missense ANKRD6 1 82384 1.21383E-5 41192 0 NA
6-90340333-A-G p.Leu598Leu synonymous ANKRD6 2 82362 2.4283E-5 41181 0 NA
6-90340339-G-A p.Met600Ile missense ANKRD6 2 82358 2.42842E-5 41179 0 1.67659E-5
6-90340345-G-A p.Glu602Glu synonymous ANKRD6 6 82350 7.28597E-5 41175 0 3.18431E-5
6-90340355-TCTGATCAGCAGG-T p.Asp607_Ala610del disruptive_inframe_deletion ANKRD6 54 82274 6.56343E-4 41137 0 3.77232E-4
6-90340375-C-T p.Pro612Pro synonymous ANKRD6 1 82226 1.21616E-5 41113 0 6.36821E-5
6-90340379-G-A p.Val614Ile missense ANKRD6 8 82184 9.73425E-5 41092 0 6.0334E-5
6-90340383-A-G p.Asn615Ser missense ANKRD6 43 82202 5.23102E-4 41101 0 2.86515E-4
6-90340384-C-T p.Asn615Asn synonymous ANKRD6 1 82206 1.21646E-5 41103 0 8.37395E-6
6-90340385-A-G p.Arg616Gly missense ANKRD6 1 82194 1.21663E-5 41097 0 8.37086E-6
6-90340389-G-T p.Gly617Val missense ANKRD6 2 82130 2.43516E-5 41065 0 NA
6-90340391-A-G p.Thr618Ala missense ANKRD6 1 82150 1.21729E-5 41075 0 NA
6-90340391-A-T p.Thr618Ser missense ANKRD6 9 82150 1.09556E-4 41075 0 3.21551E-5
6-90340415-A-T p.Ser626Cys missense ANKRD6 1 82134 1.21752E-5 41067 0 NA
6-90340418-G-T p.Gly627Trp missense ANKRD6 1 82120 1.21773E-5 41060 0 8.35897E-6
6-90340425-C-A p.Thr629Lys missense ANKRD6 1 82148 1.21732E-5 41074 0 5.03525E-4
6-90340425-C-G p.Thr629Arg missense ANKRD6 1 82148 1.21732E-5 41074 0 8.35548E-6
6-90340428-G-A p.Arg630Lys missense ANKRD6 1 82192 1.21666E-5 41096 0 NA
6-90340433-C-T p.Arg632Cys missense ANKRD6 2 82194 2.43327E-5 41097 0 3.34325E-5
6-90340434-G-A p.Arg632His missense ANKRD6 20 82188 2.43345E-4 41094 0 2.54793E-4
6-90340437-C-T p.Ala633Val missense ANKRD6 1 82186 1.21675E-5 41093 0 NA
6-90340444-A-G p.Gln635Gln synonymous ANKRD6 112 82236 0.00136193 41118 1 0.00106616
6-90340446-C-T p.Pro636Leu missense ANKRD6 9799 82042 0.119439 41021 657 0.15625
6-90340447-C-T p.Pro636Pro synonymous ANKRD6 173 82274 0.00210273 41137 0 0.00398089
6-90340448-G-A p.Ala637Thr missense ANKRD6 7 82250 8.51064E-5 41125 0 5.0179E-5
6-90340454-A-G p.Ser639Gly missense ANKRD6 72 82322 8.74614E-4 41161 1 0.00194243
6-90340459-C-G p.Ser640Arg missense ANKRD6 1 82344 1.21442E-5 41172 0 1.67319E-5
6-90340460-A-ACCTGTGGGCAGCCGCCACCAGCC p.Thr649fs frameshift ANKRD6 1 82334 1.21457E-5 41167 0 NA
6-90340466-G-C p.Gly643Arg missense ANKRD6 3 82380 3.64166E-5 41190 0 1.60976E-5
6-90340466-G-A p.Gly643Arg missense ANKRD6 2 82380 2.42777E-5 41190 0 1.20732E-5
6-90340473-C-T p.Pro645Leu missense ANKRD6 1 82392 1.21371E-5 41196 0 4.02369E-6
6-90340474-G-A p.Pro645Pro synonymous ANKRD6 11 82398 1.33498E-4 41199 0 0.00151057
6-90340485-C-G p.Thr649Arg missense ANKRD6 22 82496 2.6668E-4 41248 0 4.77707E-4
6-90340493-G-A p.Glu652Lys missense ANKRD6 3 82522 3.63539E-5 41261 0 3.18451E-5
6-90340504-C-T p.Gly655Gly synonymous ANKRD6 1 82544 1.21148E-5 41272 0 NA
6-90340508-C-A p.His657Asn missense ANKRD6 2 82556 2.4226E-5 41278 0 3.1835E-5
6-90340514-C-T p.Arg659Trp missense ANKRD6 1 82572 1.21106E-5 41286 0 6.3678E-5
6-90340520-A-G p.Thr661Ala missense ANKRD6 1 82568 1.21112E-5 41284 0 8.32681E-6
6-90340532-C-T p.Leu665Leu synonymous ANKRD6 1 82582 1.21092E-5 41291 0 NA
6-90340538-C-T p.Leu667Phe missense ANKRD6 1 82588 1.21083E-5 41294 0 1.66628E-5
6-90340559-G-A p.Ala674Thr missense ANKRD6 1 82610 1.21051E-5 41305 0 NA
6-90340585-G-A p.Trp682* stop_gained ANKRD6 1 82614 1.21045E-5 41307 0 8.59269E-6
6-90340588-T-A p.Tyr683* stop_gained ANKRD6 1 82624 1.2103E-5 41312 0 NA
6-90340592-A-C p.Arg685Arg synonymous ANKRD6 1 82630 1.21021E-5 41315 0 8.75044E-6
6-90340599-T-C p.Ile687Thr missense ANKRD6 3 82636 3.63038E-5 41318 0 1.34219E-4
6-90340605-A-C p.Glu689Ala missense ANKRD6 7 82642 8.47027E-5 41321 0 5.56907E-5
6-90340607-G-A p.Ala690Thr missense ANKRD6 1 82642 1.21004E-5 41321 0 9.34737E-6
6-90340610-C-T p.Arg691* stop_gained ANKRD6 1 82638 1.2101E-5 41319 0 9.55146E-6
6-90340611-G-A p.Arg691Gln missense ANKRD6 1 82636 1.21013E-5 41318 0 9.56572E-6
6-90340623-A-G p.Asn695Ser missense ANKRD6 1 82646 1.20998E-5 41323 0 NA
6-90340627-G-A p.Gln696Gln synonymous ANKRD6 2 82638 2.42019E-5 41319 0 NA
6-90340640-G-A p.Asp701Asn missense ANKRD6 1 82644 1.21001E-5 41322 0 2.38658E-5
6-90340642-T-G p.Asp701Glu missense ANKRD6 1 82640 1.21007E-5 41320 0 NA
6-90340644-A-C p.Lys702Thr missense ANKRD6 2 82638 2.42019E-5 41319 0 NA
6-90340645-G-A p.Lys702Lys synonymous ANKRD6 478 82628 0.00578496 41314 8 0.0125796
6-90340649-A-G p.Thr704Ala missense ANKRD6 1 82616 1.21042E-5 41308 0 NA
6-90340658-G-A p.Glu707Lys missense ANKRD6 4 82590 4.8432E-5 41295 0 2.77688E-4
6-90340667-A-T p.Lys710* stop_gained ANKRD6 1 82582 1.21092E-5 41291 0 NA
6-90340675-A-G p.Leu712Leu synonymous ANKRD6 2 82544 2.42295E-5 41272 0 NA
6-90340682-G-A p.Glu715Lys missense ANKRD6 1 82482 1.21239E-5 41241 0 NA
6-90340687-TGCCAAACTAAGGA-T p.Ala717fs frameshift ANKRD6 1 82430 1.21315E-5 41215 0 NA
6-90340688-G-A p.Ala717Thr missense ANKRD6 3 82408 3.64042E-5 41204 0 1.29769E-4
6-90340695-TAA-CAG p.LeuArg719ProGly missense ANKRD6 1 82340 1.21448E-5 41170 0 NA
6-90341048-TAAAATTCA-T c.*327_*334delAAATTCAA splice_region ANKRD6 3 9278 3.23346E-4 4639 0 2.22902E-4