Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-69345499-G-T c.-581G>T 5_prime_UTR_premature_start_codon_gain BAI3 1 2494 4.00962E-4 1247 0 NA
6-69345550-A-G c.-530A>G 5_prime_UTR_premature_start_codon_gain BAI3 1 10760 9.29368E-5 5380 0 NA
6-69345665-G-T c.-415G>T 5_prime_UTR_premature_start_codon_gain BAI3 1 42560 2.34962E-5 21280 0 NA
6-69345727-C-T c.-353C>T 5_prime_UTR_premature_start_codon_gain BAI3 1 44474 2.2485E-5 22237 0 3.19734E-5
6-69345836-C-T c.-244C>T 5_prime_UTR_premature_start_codon_gain BAI3 1 44708 2.23674E-5 22354 0 NA
6-69345843-C-T c.-237C>T 5_prime_UTR_premature_start_codon_gain BAI3 2 44714 4.47287E-5 22357 0 1.27413E-4
6-69345851-G-A c.-229G>A 5_prime_UTR_premature_start_codon_gain BAI3 1 44692 2.23754E-5 22346 0 3.18451E-5
6-69345882-C-T c.-198C>T 5_prime_UTR_premature_start_codon_gain BAI3 1 44506 2.24689E-5 22253 0 NA
6-69347285-C-A c.-185C>A splice_region BAI3 1 44610 2.24165E-5 22305 0 NA
6-69348576-T-C p.Ala3Ala synonymous BAI3 1 83244 1.20129E-5 41622 0 6.25E-4
6-69348580-C-T p.Arg5Cys missense BAI3 1 83248 1.20123E-5 41624 0 1.19667E-5
6-69348584-A-G p.Asn6Ser missense BAI3 3 83268 3.60282E-5 41634 0 3.18451E-5
6-69348585-C-A p.Asn6Lys missense BAI3 2 83272 2.40177E-5 41636 0 8.28899E-6
6-69348596-A-G p.Tyr10Cys missense BAI3 1 83274 1.20085E-5 41637 0 NA
6-69348622-A-G p.Met19Val missense BAI3 3 83290 3.60187E-5 41645 0 8.23832E-6
6-69348624-G-A p.Met19Ile missense BAI3 1 83294 1.20057E-5 41647 0 3.97779E-6
6-69348631-T-G p.Phe22Val missense BAI3 1 83304 1.20042E-5 41652 0 3.97766E-6
6-69348642-C-G p.Ala25Ala synonymous BAI3 2 83302 2.4009E-5 41651 0 4.94226E-5
6-69348653-G-C p.Trp29Ser missense BAI3 1 83298 1.20051E-5 41649 0 NA
6-69348663-T-G p.Thr32Thr synonymous BAI3 1 83296 1.20054E-5 41648 0 5.03525E-4
6-69348700-A-G p.Ser45Gly missense BAI3 47 83300 5.64226E-4 41650 0 5.84726E-4
6-69348711-T-C p.Phe48Phe synonymous BAI3 1 83296 1.20054E-5 41648 0 NA
6-69348726-A-G p.Thr53Thr synonymous BAI3 10 83288 1.20065E-4 41644 0 7.4217E-5
6-69348734-C-T p.Thr56Ile missense BAI3 1 83278 1.2008E-5 41639 0 NA
6-69348739-A-G p.Thr58Ala missense BAI3 1 83272 1.20088E-5 41636 0 NA
6-69348740-C-T p.Thr58Met missense BAI3 2 83272 2.40177E-5 41636 0 NA
6-69348758-C-T p.Pro64Leu missense BAI3 2 83262 2.40206E-5 41631 0 NA
6-69348767-A-T p.Tyr67Phe missense BAI3 3 83270 3.60274E-5 41635 0 3.18329E-5
6-69348768-T-C p.Tyr67Tyr synonymous BAI3 4 83270 4.80365E-5 41635 0 9.55049E-5
6-69348771-C-G p.Ser68Arg missense BAI3 1 83260 1.20106E-5 41630 0 NA
6-69348780-G-A p.Leu71Leu synonymous BAI3 1 83248 1.20123E-5 41624 0 NA
6-69348796-G-A p.Asp77Asn missense BAI3 52 83232 6.2476E-4 41616 0 0.00162389
6-69348813-C-A p.Asn82Lys missense BAI3 2 83214 2.40344E-5 41607 0 1.65374E-5
6-69348849-C-T p.Ser94Ser synonymous BAI3 1 83210 1.20178E-5 41605 0 8.29531E-6
6-69348852-T-C p.His95His synonymous BAI3 1 83202 1.20189E-5 41601 0 8.29696E-6
6-69348865-G-T p.Asp100Tyr missense BAI3 2 83200 2.40385E-5 41600 0 1.66251E-5
6-69348867-T-A p.Asp100Glu missense BAI3 1 83202 1.20189E-5 41601 0 3.1841E-5
6-69348878-A-G p.Lys104Arg missense BAI3 16 83206 1.92294E-4 41603 0 3.1835E-5
6-69348889-A-G p.Ile108Val missense BAI3 1 83220 1.20163E-5 41610 0 7.99099E-6
6-69348897-A-AGTAGGAGT p.Leu111fs frameshift BAI3 1 83214 1.20172E-5 41607 0 NA
6-69348908-C-T p.Ser114Phe missense BAI3 1 83212 1.20175E-5 41606 0 NA
6-69348912-G-T p.Lys115Asn missense BAI3 1 83220 1.20163E-5 41610 0 8.33153E-6
6-69348922-G-A p.Val119Ile missense BAI3 3 83218 3.60499E-5 41609 0 2.50008E-5
6-69348928-C-T p.Leu121Leu synonymous BAI3 11 83238 1.32151E-4 41619 0 2.59711E-4
6-69348938-A-G p.Asp124Gly missense BAI3 2 83224 2.40315E-5 41612 0 3.59689E-5
6-69348962-G-C p.Arg132Pro missense BAI3 1 83218 1.20166E-5 41609 0 2.49713E-5
6-69348962-G-A p.Arg132Gln missense BAI3 1 83218 1.20166E-5 41609 0 6.28141E-4
6-69348983-C-T p.Pro139Leu missense BAI3 1 83180 1.20221E-5 41590 0 NA
6-69349010-A-G p.Asp148Gly missense BAI3 2 83050 2.40819E-5 41525 0 8.27089E-6
6-69349019-C-G p.Ser151Cys missense BAI3 2 83012 2.40929E-5 41506 0 3.18695E-5
6-69349031-T-G p.Phe155Cys missense BAI3 1 83018 1.20456E-5 41509 0 3.98419E-6
6-69349033-T-G p.Leu156Val missense BAI3 1 83024 1.20447E-5 41512 0 NA
6-69349045-A-C p.Lys160Gln missense BAI3 1 83088 1.20354E-5 41544 0 NA
6-69349062-G-C p.Gln165His missense BAI3 1 83112 1.2032E-5 41556 0 3.98222E-6
6-69349072-C-G p.His169Asp missense BAI3 10 83128 1.20296E-4 41564 0 3.98156E-6
6-69349073-A-G p.His169Arg missense BAI3 290 83144 0.00348792 41572 7 0.00715059
6-69349084-A-G p.Thr173Ala missense BAI3 8 83190 9.61654E-5 41595 0 2.22887E-4
6-69349095-G-A p.Glu176Glu synonymous BAI3 1 83192 1.20204E-5 41596 0 6.25E-4
6-69349097-G-A p.Ser177Asn missense BAI3 1 83194 1.20201E-5 41597 0 NA
6-69349136-G-A p.Gly190Glu missense BAI3 1 83204 1.20187E-5 41602 0 1.19382E-5
6-69349157-C-G p.Thr197Ser missense BAI3 1 83178 1.20224E-5 41589 0 NA
6-69349158-C-T p.Thr197Thr synonymous BAI3 1 83172 1.20233E-5 41586 0 8.29408E-6
6-69349177-G-C p.Glu204Gln missense BAI3 3 83094 3.61037E-5 41547 0 NA
6-69349179-G-T p.Glu204Asp missense BAI3 1 83070 1.2038E-5 41535 0 NA
6-69349180-T-C p.Trp205Arg missense BAI3 3 83052 3.61219E-5 41526 0 3.19734E-5
6-69349183-G-A p.Gly206Arg missense BAI3 1 83028 1.20441E-5 41514 0 8.32737E-6
6-69349188-C-T p.Ile207Ile synonymous BAI3 24 82970 2.89261E-4 41485 0 0.00100705
6-69349190-A-G p.Asp208Gly missense BAI3 1 82944 1.20563E-5 41472 0 1.19479E-5
6-69349191-C-T p.Asp208Asp synonymous BAI3 1 82934 1.20578E-5 41467 0 NA
6-69349200-G-A p.Ser211Ser synonymous BAI3 3 82796 3.62336E-5 41398 0 3.18837E-5
6-69349219-G-T p.Val218Leu missense BAI3 2 82564 2.42236E-5 41282 0 NA
6-69349231-C-A p.Leu222Met missense BAI3 1 82442 1.21297E-5 41221 0 NA
6-69349233-G-A p.Leu222Leu synonymous BAI3 2 82414 2.42677E-5 41207 0 NA
6-69349237-G-A p.Glu224Lys missense BAI3 1 82394 1.21368E-5 41197 0 NA
6-69349249-G-A p.Gly228Ser missense BAI3 1 82262 1.21563E-5 41131 0 NA
6-69349266-G-A p.Glu233Glu synonymous BAI3 8 82024 9.75324E-5 41012 0 5.03525E-4
6-69349291-C-T p.Leu242Phe missense BAI3 1 81570 1.22594E-5 40785 0 NA
6-69349315-C-T p.Pro250Ser missense BAI3 1 81206 1.23144E-5 40603 0 5.04032E-4
6-69349328-A-G c.757+4A>G splice_region BAI3 1 81100 1.23305E-5 40550 0 NA
6-69640448-T-C c.758-3T>C splice_region BAI3 1 81910 1.22085E-5 40955 0 3.18573E-5
6-69640490-G-A p.Arg266Gln missense BAI3 1 82502 1.21209E-5 41251 0 2.52487E-5
6-69640509-A-G p.Glu272Glu synonymous BAI3 17 82592 2.05831E-4 41296 0 8.63138E-4
6-69640510-A-G p.Lys273Glu missense BAI3 1 82586 1.21086E-5 41293 0 6.36902E-5
6-69640519-C-T p.Pro276Ser missense BAI3 1 82538 1.21156E-5 41269 0 NA
6-69640568-C-T c.868+7C>T splice_region BAI3 1 81774 1.22288E-5 40887 0 2.72524E-5
6-69640569-G-A c.868+8G>A splice_region BAI3 3 81724 3.67089E-5 40862 0 9.11627E-6
6-69646406-C-T c.869-5C>T splice_region BAI3 2 82982 2.41016E-5 41491 0 1.29697E-4
6-69646407-G-A c.869-4G>A splice_region BAI3 1 82998 1.20485E-5 41499 0 1.59807E-5
6-69646415-A-G p.Glu291Glu synonymous BAI3 1 83084 1.2036E-5 41542 0 3.38897E-5
6-69646433-G-T p.Trp297Cys missense BAI3 1 83166 1.20241E-5 41583 0 NA
6-69646448-A-G p.Thr302Thr synonymous BAI3 1 83208 1.20181E-5 41604 0 1.99005E-5
6-69646449-T-C p.Cys303Arg missense BAI3 1 83216 1.20169E-5 41608 0 8.35506E-6
6-69646453-C-T p.Ser304Leu missense BAI3 1 83202 1.20189E-5 41601 0 0.0015121
6-69646454-G-A p.Ser304Ser synonymous BAI3 1 83194 1.20201E-5 41597 0 6.37146E-5
6-69646460-T-C p.Thr306Thr synonymous BAI3 1 83190 1.20207E-5 41595 0 1.19411E-5
6-69646475-G-A p.Ser311Ser synonymous BAI3 1 83200 1.20192E-5 41600 0 3.35734E-5
6-69646503-C-T p.Pro321Ser missense BAI3 1 83168 1.20239E-5 41584 0 7.96775E-6
6-69646504-C-T p.Pro321Leu missense BAI3 3 83174 3.6069E-5 41587 0 3.18329E-5
6-69646508-C-T p.Tyr322Tyr synonymous BAI3 1 83166 1.20241E-5 41583 0 NA
6-69646523-C-T p.Ser327Ser synonymous BAI3 1 83156 1.20256E-5 41578 0 NA
6-69646524-G-A p.Gly328Ser missense BAI3 5 83158 6.01265E-5 41579 0 5.04032E-4
6-69646526-C-G p.Gly328Gly synonymous BAI3 1 83162 1.20247E-5 41581 0 3.98896E-6
6-69646566-T-C p.Cys342Arg missense BAI3 1 83098 1.2034E-5 41549 0 NA
6-69646571-A-G p.Pro343Pro splice_region+synonymous BAI3 1 83058 1.20398E-5 41529 0 NA
6-69653715-A-G c.1031-7A>G splice_region BAI3 1 82196 1.2166E-5 41098 0 NA
6-69653719-C-T c.1031-3C>T splice_region BAI3 1 82432 1.21312E-5 41216 0 NA
6-69653729-A-G p.Gly346Gly synonymous BAI3 1 83120 1.20308E-5 41560 0 NA
6-69653770-C-T p.Thr360Ile missense BAI3 1 83282 1.20074E-5 41641 0 0.00100705
6-69653810-A-G p.Thr373Thr synonymous BAI3 1 83286 1.20068E-5 41643 0 NA
6-69653815-C-A p.Pro375His missense BAI3 1 83278 1.2008E-5 41639 0 NA
6-69653825-A-G p.Gly378Gly synonymous BAI3 1 83274 1.20085E-5 41637 0 3.97804E-6
6-69653832-C-G p.Pro381Ala missense BAI3 2 83264 2.402E-5 41632 0 NA
6-69653833-C-T p.Pro381Leu missense BAI3 5 83256 6.00557E-5 41628 0 3.29533E-5
6-69653834-G-A p.Pro381Pro synonymous BAI3 2 83264 2.402E-5 41632 0 2.47141E-5
6-69653834-G-C p.Pro381Pro synonymous BAI3 1 83264 1.201E-5 41632 0 NA
6-69653858-T-C p.His389His synonymous BAI3 1 83198 1.20195E-5 41599 0 5.04032E-4
6-69653877-C-G p.Leu396Val missense BAI3 1 82852 1.20697E-5 41426 0 8.25559E-6
6-69653882-C-T p.Cys397Cys synonymous BAI3 2 82452 2.42565E-5 41226 0 1.65297E-5
6-69665909-T-G c.1196-7T>G splice_region BAI3 1 82970 1.20525E-5 41485 0 8.37535E-6
6-69665912-G-A c.1196-4G>A splice_region BAI3 1 82982 1.20508E-5 41491 0 8.35981E-6
6-69665923-A-T p.Gly401Gly synonymous BAI3 1 83046 1.20415E-5 41523 0 NA
6-69665925-A-T p.Gln402Leu missense BAI3 7 83064 8.42724E-5 41532 0 1.24634E-4
6-69665935-G-A p.Glu405Glu synonymous BAI3 1 83026 1.20444E-5 41513 0 7.97836E-6
6-69665943-C-T p.Ser408Leu missense BAI3 2 82986 2.41005E-5 41493 0 1.65574E-5
6-69665944-G-C p.Ser408Ser synonymous BAI3 11 82990 1.32546E-4 41495 0 1.2747E-4
6-69665944-G-A p.Ser408Ser synonymous BAI3 1 82990 1.20496E-5 41495 0 2.48238E-5
6-69665952-A-G p.Gln411Arg missense BAI3 61 82956 7.3533E-4 41478 0 0.00302725
6-69665965-G-A p.Thr415Thr synonymous BAI3 2 82924 2.41185E-5 41462 0 6.37267E-5
6-69665965-G-C p.Thr415Thr synonymous BAI3 1 82924 1.20592E-5 41462 0 7.97188E-6
6-69665970-C-A p.Ser417* stop_gained BAI3 1 82912 1.2061E-5 41456 0 NA
6-69665970-C-T p.Ser417Leu missense BAI3 6 82912 7.23659E-5 41456 0 6.25E-4
6-69665971-G-A p.Ser417Ser synonymous BAI3 3 82906 3.61856E-5 41453 0 6.37064E-5
6-69665979-C-T p.Thr420Ile missense BAI3 3 82866 3.6203E-5 41433 0 3.18471E-5
6-69665983-G-A p.Gln421Gln synonymous BAI3 1 82830 1.20729E-5 41415 0 8.2739E-6
6-69665991-G-T p.Ser424Ile missense BAI3 1 82832 1.20726E-5 41416 0 NA
6-69666001-C-T p.Cys427Cys synonymous BAI3 15 82742 1.81286E-4 41371 0 4.14065E-4
6-69666011-G-T p.Ala431Ser missense BAI3 9 82720 1.08801E-4 41360 0 5.03525E-4
6-69666017-G-A p.Gly433Arg missense BAI3 2 82708 2.41815E-5 41354 0 NA
6-69666026-G-A p.Glu436Lys missense BAI3 1 82694 1.20928E-5 41347 0 NA
6-69666069-C-T p.Pro450Leu missense BAI3 1 82592 1.21077E-5 41296 0 NA
6-69666077-A-G p.Thr453Ala missense BAI3 2 82494 2.42442E-5 41247 0 NA
6-69666536-G-A c.1361-1G>A splice_acceptor BAI3 1 83236 1.2014E-5 41618 0 NA
6-69666547-A-G p.Gln457Gln synonymous BAI3 10 83266 1.20097E-4 41633 0 1.27445E-4
6-69666548-T-C p.Trp458Arg missense BAI3 1 83272 1.20088E-5 41636 0 NA
6-69666564-A-G p.His463Arg missense BAI3 1 83300 1.20048E-5 41650 0 NA
6-69666579-C-A p.Ser468Tyr missense BAI3 1 83302 1.20045E-5 41651 0 6.37471E-5
6-69666595-C-T p.Gly473Gly synonymous BAI3 1 83322 1.20016E-5 41661 0 4.11963E-5
6-69666596-G-A p.Gly474Ser missense BAI3 1 83322 1.20016E-5 41661 0 8.23791E-6
6-69666607-G-A p.Arg477Arg synonymous BAI3 1 83312 1.20031E-5 41656 0 8.23886E-6
6-69666614-A-G p.Arg480Gly missense BAI3 2 83328 2.40015E-5 41664 0 NA
6-69666615-G-A p.Arg480Lys missense BAI3 2 83320 2.40038E-5 41660 0 NA
6-69666617-A-G p.Thr481Ala missense BAI3 1 83328 1.20008E-5 41664 0 3.97931E-6
6-69666630-C-G p.Ala485Gly missense BAI3 1 83322 1.20016E-5 41661 0 NA
6-69666636-T-C p.Ile487Thr missense BAI3 1 83330 1.20005E-5 41665 0 NA
6-69666640-AG-A p.Gln490fs frameshift BAI3 1 83326 1.20011E-5 41663 0 NA
6-69666641-G-A p.Gly489Arg missense BAI3 4 83324 4.80054E-5 41662 0 8.23778E-6
6-69666643-G-A p.Gly489Gly synonymous BAI3 1 83322 1.20016E-5 41661 0 NA
6-69666660-C-T p.Thr495Met missense BAI3 1 83312 1.20031E-5 41656 0 3.58232E-5
6-69666664-C-T p.Gly496Gly synonymous BAI3 8 83292 9.60476E-5 41646 0 9.57365E-5
6-69666673-G-C p.Val499Val synonymous BAI3 1 83318 1.20022E-5 41659 0 3.18674E-5
6-69666675-G-A p.Arg500Lys missense BAI3 9 83314 1.08025E-4 41657 0 1.15352E-4
6-69666684-A-G p.Asn503Ser missense BAI3 70157 80072 0.876174 40036 30769 0.906875
6-69666684-AT-GC p.Asn503Ser missense BAI3 1 83284 1.20071E-5 41642 0 NA
6-69666693-G-A p.Arg506Gln missense BAI3 6 83240 7.20807E-5 41620 0 7.97346E-6
6-69666697-C-T p.Cys507Cys synonymous BAI3 1 83222 1.20161E-5 41611 0 8.24552E-6
6-69666706-G-A c.1525+5G>A splice_region BAI3 2 83154 2.40518E-5 41577 0 8.24647E-6
6-69684651-G-A c.1526-4G>A splice_region BAI3 2 82988 2.40999E-5 41494 0 4.13442E-5
6-69684657-C-A p.Pro510Thr missense+splice_region BAI3 12 82988 1.44599E-4 41494 1 2.86588E-4
6-69684658-C-T p.Pro510Leu missense BAI3 3 82988 3.61498E-5 41494 0 6.37024E-5
6-69684675-G-C p.Glu516Gln missense BAI3 1 83030 1.20438E-5 41515 0 NA
6-69684683-T-C p.Tyr518Tyr synonymous BAI3 1 83000 1.20482E-5 41500 0 3.1841E-5
6-69684689-G-A p.Met520Ile missense BAI3 1 83000 1.20482E-5 41500 0 NA
6-69684692-G-A p.Ser521Ser synonymous BAI3 8 82996 9.63902E-5 41498 0 1.40199E-4
6-69684712-C-T p.Pro528Leu missense BAI3 2 82982 2.41016E-5 41491 0 1.65E-5
6-69684719-C-T p.Gly530Gly synonymous BAI3 1 82964 1.20534E-5 41482 0 4.12555E-5
6-69684719-C-A p.Gly530Gly synonymous BAI3 1 82964 1.20534E-5 41482 0 2.47533E-5
6-69684726-G-A p.Ala533Thr missense BAI3 2 82984 2.4101E-5 41492 0 3.98153E-6
6-69684733-A-G p.Asn535Ser missense BAI3 1 82968 1.20528E-5 41484 0 NA
6-69684737-A-G p.Gln536Gln synonymous BAI3 2 82944 2.41127E-5 41472 0 3.30617E-5
6-69684761-A-G c.1627+5A>G splice_region BAI3 1 82832 1.20726E-5 41416 0 8.32917E-6
6-69684763-T-C c.1627+7T>C splice_region BAI3 1 82790 1.20788E-5 41395 0 NA
6-69685118-A-G c.1628-8A>G splice_region BAI3 1 82462 1.21268E-5 41231 0 4.97562E-5
6-69685133-T-G p.Thr545Thr synonymous BAI3 2 82530 2.42336E-5 41265 0 9.96723E-5
6-69685141-G-A p.Arg548His missense BAI3 3 82506 3.6361E-5 41253 0 4.95802E-5
6-69685155-C-G p.Leu553Val missense BAI3 1 82486 1.21233E-5 41243 0 NA
6-69685163-A-C p.Gly555Gly synonymous BAI3 1 82496 1.21218E-5 41248 0 8.25478E-6
6-69685164-G-A p.Val556Met missense BAI3 1 82510 1.21197E-5 41255 0 NA
6-69685167-G-C p.Ala557Pro missense BAI3 1 82504 1.21206E-5 41252 0 NA
6-69685169-C-T p.Ala557Ala synonymous BAI3 1 82540 1.21153E-5 41270 0 NA
6-69685176-G-A p.Glu560Lys missense BAI3 1 82556 1.2113E-5 41278 0 NA
6-69685184-G-A p.Pro562Pro synonymous BAI3 20 82550 2.42277E-4 41275 0 0.00151057
6-69685184-G-C p.Pro562Pro synonymous BAI3 1 82552 1.21136E-5 41276 0 NA
6-69685200-A-G p.Ile568Val missense BAI3 1 82584 1.21089E-5 41292 0 0.00151057
6-69685211-G-A p.Glu571Glu synonymous BAI3 1 82534 1.21162E-5 41267 0 NA
6-69685217-A-G p.Arg573Arg synonymous BAI3 9 82518 1.09067E-4 41259 0 0.00151057
6-69685219-A-G p.His574Arg missense BAI3 3 82506 3.6361E-5 41253 0 6.36943E-5
6-69703668-G-T p.Glu581Asp missense BAI3 4 83146 4.81081E-5 41573 1 3.1839E-5
6-69703672-C-G p.Leu583Val missense BAI3 2 83158 2.40506E-5 41579 0 3.18431E-5
6-69703680-G-A p.Lys585Lys synonymous BAI3 2 83188 2.40419E-5 41594 0 7.96768E-6
6-69703688-G-A p.Arg588Gln missense BAI3 4 83204 4.80746E-5 41602 0 1.27348E-4
6-69703689-A-C p.Arg588Arg synonymous BAI3 7 83198 8.41366E-5 41599 0 9.5511E-5
6-69703690-A-T p.Met589Leu missense BAI3 1 83192 1.20204E-5 41596 0 NA
6-69703696-G-A p.Ala591Thr missense BAI3 1 83214 1.20172E-5 41607 0 3.18309E-5
6-69703697-C-T p.Ala591Val missense BAI3 3 83220 3.6049E-5 41610 0 4.61863E-4
6-69703705-G-A p.Gly594Arg missense BAI3 1 83230 1.20149E-5 41615 0 3.97969E-6
6-69703712-C-T p.Ser596Phe missense BAI3 1 83228 1.20152E-5 41614 0 NA
6-69703715-A-G p.Gln597Arg missense BAI3 1 83228 1.20152E-5 41614 0 3.1837E-5
6-69703720-A-T p.Thr599Ser missense BAI3 5 83222 6.00803E-5 41611 0 6.25E-4
6-69703760-A-G p.Tyr612Cys missense BAI3 1 83188 1.2021E-5 41594 0 2.47219E-5
6-69703767-C-G p.Gly614Gly synonymous BAI3 976 83134 0.0117401 41567 9 0.035625
6-69703767-C-T p.Gly614Gly synonymous BAI3 3 83168 3.60716E-5 41584 0 7.41718E-5
6-69703773-T-A p.Leu616Leu synonymous BAI3 8 83170 9.61885E-5 41585 0 7.56002E-5
6-69703774-C-T p.Leu617Leu synonymous BAI3 1 83172 1.20233E-5 41586 0 8.24144E-6
6-69703777-A-G p.Met618Val missense BAI3 3 83166 3.60724E-5 41583 0 1.19379E-5
6-69703786-G-A p.Glu621Lys missense BAI3 1 83138 1.20282E-5 41569 0 NA
6-69703791-C-A p.Ile622Ile synonymous BAI3 1 83120 1.20308E-5 41560 0 NA
6-69703826-G-C p.Ser634Thr missense BAI3 1 83024 1.20447E-5 41512 0 NA
6-69703828-T-C p.Tyr635His missense BAI3 3 83006 3.6142E-5 41503 0 NA
6-69703833-C-T p.Ile636Ile synonymous BAI3 1 82944 1.20563E-5 41472 0 8.26897E-6
6-69703861-G-A c.1929+7G>A splice_region BAI3 1 82858 1.20688E-5 41429 0 1.20142E-5
6-69723933-T-C p.Phe645Leu missense BAI3 1 81010 1.23442E-5 40505 0 NA
6-69723938-T-C p.Phe646Phe synonymous BAI3 4 81056 4.93486E-5 40528 0 NA
6-69723942-A-G p.Ile648Val missense BAI3 5 81158 6.16082E-5 40579 0 7.7994E-5
6-69723949-G-A p.Ser650Asn missense BAI3 3 81272 3.69131E-5 40636 0 9.25943E-6
6-69723957-C-G p.Leu653Val missense BAI3 3 81322 3.68904E-5 40661 0 2.86843E-4
6-69723958-T-C p.Leu653Pro missense BAI3 1 81330 1.22956E-5 40665 0 NA
6-69723974-G-C p.Lys658Asn missense BAI3 1 81428 1.22808E-5 40714 0 NA
6-69723976-A-G p.Glu659Gly missense BAI3 2 81460 2.45519E-5 40730 0 NA
6-69728288-T-C p.Tyr668Tyr synonymous BAI3 1 80432 1.24329E-5 40216 0 NA
6-69728298-A-G p.Ile672Val missense BAI3 2 80910 2.47188E-5 40455 0 1.90849E-4
6-69728301-G-C p.Glu673Gln missense BAI3 2 81012 2.46877E-5 40506 0 4.00163E-6
6-69728312-G-A p.Gln676Gln synonymous BAI3 1 81212 1.23135E-5 40606 0 NA
6-69728317-T-C p.Ile678Thr missense BAI3 1 81262 1.23059E-5 40631 0 8.27636E-6
6-69728318-T-G p.Ile678Met missense BAI3 1 81284 1.23025E-5 40642 0 NA
6-69728322-G-A p.Asp680Asn missense BAI3 1 81320 1.22971E-5 40660 0 NA
6-69728324-T-C p.Asp680Asp synonymous BAI3 2 81362 2.45815E-5 40681 0 2.15093E-4
6-69728334-A-G p.Ile684Val missense BAI3 7 81334 8.60649E-5 40667 0 2.79345E-5
6-69728337-G-A p.Val685Ile missense BAI3 1 81366 1.22901E-5 40683 0 NA
6-69728347-G-A p.Gly688Glu missense BAI3 2 81326 2.45924E-5 40663 0 4.39164E-5
6-69728364-A-T p.Asn694Tyr missense BAI3 2 81088 2.46646E-5 40544 0 NA
6-69728386-A-G p.Asn701Ser missense BAI3 1 80454 1.24295E-5 40227 0 NA
6-69728399-A-G c.2107+8A>G splice_region BAI3 5 79666 6.2762E-5 39833 0 1.67079E-5
6-69758072-A-T c.2108-5A>T splice_region BAI3 8561 82676 0.103549 41338 657 0.155508
6-69758083-G-A p.Ser705Asn missense BAI3 1 83038 1.20427E-5 41519 0 0.00503525
6-69758084-T-A p.Ser705Arg missense BAI3 1 83076 1.20372E-5 41538 0 0.00130073
6-69758101-C-T p.Ala711Val missense BAI3 2 83134 2.40575E-5 41567 0 NA
6-69758106-T-A p.Ser713Thr missense BAI3 1 83146 1.2027E-5 41573 0 NA
6-69758121-A-G p.Ile718Val missense BAI3 5 83194 6.01005E-5 41597 0 6.36983E-5
6-69758125-A-G p.Asn719Ser missense BAI3 1 83206 1.20184E-5 41603 0 NA
6-69758126-CTTT-C p.Phe720del conservative_inframe_deletion BAI3 1 83208 1.20181E-5 41604 0 NA
6-69758130-CCAATGAAA-C p.Pro721fs frameshift BAI3 1 83212 1.20175E-5 41606 0 NA
6-69758133-A-G p.Met722Val missense BAI3 2 83216 2.40338E-5 41608 0 3.18573E-5
6-69758142-C-T p.Arg725Trp missense BAI3 1 83206 1.20184E-5 41603 0 1.19418E-5
6-69758150-A-G p.Gly727Gly synonymous BAI3 2 83216 2.40338E-5 41608 0 3.97918E-6
6-69758157-G-C p.Asp730His missense BAI3 2 83218 2.40333E-5 41609 0 4.77631E-5
6-69758180-T-C p.Asp737Asp synonymous BAI3 1 83230 1.20149E-5 41615 0 1.64943E-5
6-69758181-A-G p.Arg738Gly missense BAI3 3 83236 3.60421E-5 41618 0 8.24715E-6
6-69758209-C-G p.Thr747Ser missense BAI3 3 83242 3.60395E-5 41621 0 3.98603E-6
6-69758209-C-T p.Thr747Ile missense BAI3 1 83242 1.20132E-5 41621 0 NA
6-69758212-C-T p.Pro748Leu missense BAI3 5 83236 6.00702E-5 41618 0 6.37714E-5
6-69758213-G-A p.Pro748Pro synonymous BAI3 5 83228 6.00759E-5 41614 0 3.59155E-5
6-69758223-A-G p.Lys752Glu missense BAI3 2 83194 2.40402E-5 41597 0 NA
6-69759164-A-G p.Glu753Glu splice_region+synonymous BAI3 1 81372 1.22892E-5 40686 0 NA
6-69759167-A-G p.Leu754Leu synonymous BAI3 3 81430 3.68415E-5 40715 0 7.54768E-5
6-69759175-C-T p.Ser757Leu missense BAI3 3 81548 3.67881E-5 40774 0 4.08207E-6
6-69759182-A-G p.Val759Val synonymous BAI3 12 81630 1.47005E-4 40815 0 1.25502E-4
6-69759193-G-A p.Gly763Asp missense BAI3 1 81706 1.2239E-5 40853 0 NA
6-69759194-C-T p.Gly763Gly synonymous BAI3 1 81686 1.2242E-5 40843 0 1.67182E-5
6-69759195-G-A p.Ala764Thr missense BAI3 8 81666 9.796E-5 40833 0 5.04032E-4
6-69759195-G-T p.Ala764Ser missense BAI3 1 81666 1.2245E-5 40833 0 8.35757E-6
6-69759196-C-T p.Ala764Val missense BAI3 1 81740 1.22339E-5 40870 0 4.01829E-6
6-69759219-C-T p.Leu772Leu synonymous BAI3 2 81658 2.44924E-5 40829 0 NA
6-69759231-A-G p.Thr776Ala missense BAI3 1 81448 1.22778E-5 40724 0 8.43583E-6
6-69759232-C-T p.Thr776Ile missense BAI3 1 81450 1.22775E-5 40725 0 8.4364E-6
6-69772817-CTG-C c.2334-8_2334-7delTG splice_region BAI3 1 82002 1.21948E-5 41001 0 8.34112E-6
6-69772822-G-T c.2334-4G>T splice_region BAI3 4 82128 4.87045E-5 41064 0 3.32127E-5
6-69772834-C-A p.Thr781Asn missense BAI3 1 82336 1.21454E-5 41168 0 2.4862E-5
6-69772849-A-G p.Lys786Arg missense BAI3 2 82488 2.4246E-5 41244 0 1.27445E-4
6-69772857-G-A p.Val789Met missense BAI3 3 82482 3.63716E-5 41241 0 3.30896E-5
6-69772860-G-T p.Val790Phe missense BAI3 2 82510 2.42395E-5 41255 0 8.27226E-6
6-69772866-A-G p.Ile792Val missense BAI3 2 82550 2.42277E-5 41275 0 1.95429E-4
6-69772874-T-C p.Pro794Pro synonymous BAI3 3 82586 3.63258E-5 41293 0 6.37633E-5
6-69772877-A-C p.Glu795Asp missense BAI3 1 82592 1.21077E-5 41296 0 8.27102E-6
6-69772889-C-A p.Thr799Thr synonymous BAI3 1 82550 1.21139E-5 41275 0 1.158E-4
6-69772890-G-A p.Asp800Asn missense BAI3 2 82550 2.42277E-5 41275 0 2.48159E-5
6-69772894-C-T p.Ser801Leu missense BAI3 3 82540 3.6346E-5 41270 0 3.18837E-5
6-69772894-C-G p.Ser801Trp missense BAI3 1 82540 1.21153E-5 41270 0 NA
6-69772895-G-A p.Ser801Ser synonymous BAI3 1 82508 1.212E-5 41254 0 3.30923E-5
6-69772913-A-G p.Leu807Leu synonymous BAI3 2 82472 2.42507E-5 41236 0 NA
6-69772915-C-T p.Ala808Val missense BAI3 1 82458 1.21274E-5 41229 0 7.45181E-5
6-69772922-G-A p.Leu810Leu synonymous BAI3 14 82386 1.69932E-4 41193 0 8.28253E-5
6-69772936-C-A c.2436+8C>A splice_region BAI3 1 82152 1.21726E-5 41076 0 NA
6-69785884-T-A c.2437-3T>A splice_region BAI3 1 82000 1.21951E-5 41000 0 8.24484E-6
6-69785922-C-G p.Asp824Glu missense BAI3 1 82182 1.21681E-5 41091 0 NA
6-69785930-C-T p.Thr827Met missense+splice_region BAI3 1 82038 1.21895E-5 41019 0 3.20246E-5
6-69942386-A-G c.-38A>G 5_prime_UTR_premature_start_codon_gain BAI3 1 34746 2.87803E-5 17373 0 NA
6-69942411-T-G c.-13T>G 5_prime_UTR_premature_start_codon_gain BAI3 2 34764 5.75308E-5 17382 0 7.79435E-6
6-69942423-A-G c.-1A>G 5_prime_UTR_premature_start_codon_gain BAI3 2 34780 5.75043E-5 17390 0 NA
6-69942448-G-A p.Ala9Thr missense BAI3 2 34780 5.75043E-5 17390 0 NA
6-69942481-A-C p.Arg20Arg synonymous BAI3 1 34776 2.87555E-5 17388 0 NA
6-69942484-C-T p.Arg21* stop_gained BAI3 1 34772 2.87588E-5 17386 0 3.18573E-5
6-69942490-G-A p.Gly23Arg missense BAI3 3 34770 8.62813E-5 17385 0 1.32362E-4
6-69942506-G-A p.Trp28* stop_gained BAI3 3395 34624 0.0980534 17312 166 0.120625
6-69942931-C-T c.-90C>T 5_prime_UTR_premature_start_codon_gain BAI3 4 36908 1.08378E-4 18454 0 6.37227E-5
6-69943024-C-T p.His2Tyr missense BAI3 11 71646 1.53533E-4 35823 0 9.62835E-5
6-69943042-T-C p.Phe8Leu missense BAI3 1 76354 1.30969E-5 38177 0 2.49806E-5
6-69943050-C-G p.Asn10Lys missense+splice_region BAI3 1 78006 1.28195E-5 39003 0 1.12592E-5
6-69943054-T-C c.32+2T>C splice_donor BAI3 1 78572 1.27272E-5 39286 0 6.52656E-5
6-69943056-G-T c.32+4G>T splice_region BAI3 1 78810 1.26887E-5 39405 0 NA
6-69943062-T-G c.-250T>G 5_prime_UTR_premature_start_codon_gain BAI3 3 79106 3.79238E-5 39553 0 NA
6-69943068-C-T c.-244C>T 5_prime_UTR_premature_start_codon_gain BAI3 1 79346 1.2603E-5 39673 0 3.25415E-5
6-69943134-A-G c.-178A>G 5_prime_UTR_premature_start_codon_gain BAI3 1 82356 1.21424E-5 41178 0 4.09195E-6
6-69943160-C-G c.-152C>G 5_prime_UTR_premature_start_codon_gain BAI3 1 83108 1.20325E-5 41554 0 8.26938E-6
6-69943191-T-C p.Ser36Ser synonymous BAI3 1 83352 1.19973E-5 41676 0 NA
6-69943200-G-A c.-112G>A 5_prime_UTR_premature_start_codon_gain BAI3 2 83366 2.39906E-5 41683 0 3.98286E-6
6-69943218-T-C p.Cys45Cys synonymous BAI3 1 83398 1.19907E-5 41699 0 NA
6-69943244-A-G p.His54Arg missense BAI3 8 83402 9.5921E-5 41701 0 7.41327E-5
6-69943290-T-C p.Ala69Ala synonymous BAI3 1 83372 1.19944E-5 41686 0 2.4717E-5
6-69943292-A-G p.Gln70Arg missense BAI3 1 83370 1.19947E-5 41685 0 3.97766E-6
6-69943295-A-G p.Gln71Arg missense BAI3 7 83368 8.39651E-5 41684 0 5.76834E-5
6-69943297-C-T p.Pro72Ser missense BAI3 2 83368 2.399E-5 41684 0 3.18532E-5
6-69943300-A-G p.Arg73Gly missense BAI3 1 83358 1.19964E-5 41679 0 6.37186E-5
6-69944925-T-C p.Ile76Thr missense+splice_region BAI3 111 82514 0.00134523 41257 0 0.00245457
6-69944937-C-A p.Ser80Tyr missense BAI3 2 82686 2.41879E-5 41343 1 NA
6-69944937-C-T p.Ser80Phe missense BAI3 2 82686 2.41879E-5 41343 0 NA
6-69944959-A-G p.Leu87Leu synonymous BAI3 192 82780 0.0023194 41390 0 0.00277194
6-69944973-G-C p.Gly92Ala missense BAI3 1 82832 1.20726E-5 41416 0 NA
6-69944987-G-T p.Ala97Ser missense BAI3 47 82800 5.67633E-4 41400 0 0.0020141
6-69945014-G-A p.Ala106Thr missense BAI3 1 82628 1.21024E-5 41314 0 3.98264E-5
6-69945027-G-A p.Arg110Lys missense+splice_region BAI3 17 82398 2.06316E-4 41199 0 5.42126E-4
6-69945031-A-C c.329+4A>C splice_region BAI3 1 82326 1.21468E-5 41163 0 NA
6-69945031-A-G c.329+4A>G splice_region BAI3 3 82326 3.64405E-5 41163 0 6.25E-4
6-69945033-T-C c.329+6T>C splice_region BAI3 75 82310 9.11189E-4 41155 0 0.00197654
6-69949009-T-C c.330-7T>C splice_region BAI3 1 79074 1.26464E-5 39537 0 4.20971E-6
6-69949016-G-A p.Arg110Arg splice_region+synonymous BAI3 2 80060 2.49813E-5 40030 0 1.276E-4
6-69949023-C-T p.Arg113Cys missense BAI3 64 80358 7.96436E-4 40179 0 0.00280648
6-69949024-G-A p.Arg113His missense BAI3 1 80384 1.24403E-5 40192 0 4.00863E-6
6-69949025-C-T p.Arg113Arg synonymous BAI3 1 80570 1.24116E-5 40285 0 8.01186E-6
6-69949040-A-G p.Ile118Met missense BAI3 1 80890 1.23625E-5 40445 0 3.9909E-6
6-69949041-A-C p.Ile119Leu missense BAI3 1 80900 1.23609E-5 40450 0 3.99055E-6
6-69949082-C-A p.Ile132Ile synonymous BAI3 1 80886 1.23631E-5 40443 0 NA
6-69949086-A-T p.Ile134Leu missense BAI3 1 80790 1.23778E-5 40395 0 8.24742E-6
6-69949092-G-A p.Val136Ile missense BAI3 5 80716 6.19456E-5 40358 0 6.59903E-5
6-69949108-C-T p.Thr141Ile missense BAI3 2 80312 2.49029E-5 40156 0 NA
6-70034849-A-T p.Tyr173Phe missense BAI3 1 83286 1.20068E-5 41643 0 NA
6-70034879-G-A p.Arg183Gln missense BAI3 1 83252 1.20117E-5 41626 0 4.12147E-5
6-70034895-C-T p.Arg188Arg synonymous BAI3 2 83200 2.40385E-5 41600 0 3.30491E-5
6-70034901-G-A p.Leu190Leu synonymous BAI3 1 83186 1.20213E-5 41593 0 7.9701E-6
6-70037716-A-T p.Leu196Phe missense BAI3 1 82848 1.20703E-5 41424 0 3.99042E-6
6-70037767-T-C p.Tyr213Tyr synonymous BAI3 2 82956 2.41092E-5 41478 0 NA
6-70037776-T-A p.Asp216Glu missense BAI3 1 82860 1.20685E-5 41430 0 NA
6-70037779-C-A p.His217Gln missense+splice_region BAI3 1 82794 1.20782E-5 41397 0 7.99597E-6
6-70040422-A-T p.Gly226Gly synonymous BAI3 8 82492 9.69791E-5 41246 0 1.92369E-4
6-70040423-C-T p.Leu227Leu synonymous BAI3 1 82496 1.21218E-5 41248 0 NA
6-70040428-C-G p.Leu228Leu synonymous BAI3 1 82552 1.21136E-5 41276 0 3.20082E-5
6-70040452-C-T p.Ala236Ala synonymous BAI3 2 82420 2.4266E-5 41210 0 1.20476E-5
6-70040453-G-A p.Ala237Thr missense BAI3 3 82472 3.6376E-5 41236 0 1.2461E-4
6-70040471-A-T c.720+7A>T splice_region BAI3 2 82174 2.43386E-5 41087 0 NA
6-70042812-C-T c.721-3C>T splice_region BAI3 1 83256 1.20111E-5 41628 0 3.99377E-6
6-70042836-T-G p.Leu248Val missense BAI3 1 83270 1.20091E-5 41635 0 NA
6-70042847-T-C p.Asn251Asn synonymous BAI3 1 83256 1.20111E-5 41628 0 4.95794E-5
6-70042875-G-C p.Asp261His missense BAI3 2 83240 2.40269E-5 41620 0 NA
6-70042875-G-T p.Asp261Tyr missense BAI3 1 83240 1.20135E-5 41620 0 NA
6-70042883-G-A p.Lys263Lys synonymous BAI3 1 83238 1.20137E-5 41619 0 8.32002E-6
6-70042883-G-T p.Lys263Asn missense BAI3 1 83238 1.20137E-5 41619 0 3.98216E-6
6-70042885-T-C p.Leu264Pro missense BAI3 3 83236 3.60421E-5 41618 0 NA
6-70042892-C-G p.His266Gln missense BAI3 2 83224 2.40315E-5 41612 0 2.51248E-5
6-70042898-C-T p.Ala268Ala splice_region+synonymous BAI3 3 83192 3.60612E-5 41596 0 1.09546E-4
6-70048812-A-G p.Met271Val missense BAI3 1 83284 1.20071E-5 41642 0 NA
6-70048818-G-C p.Glu273Gln missense BAI3 1 83310 1.20034E-5 41655 0 NA
6-70048830-G-A p.Gly277Ser missense BAI3 2 83312 2.40061E-5 41656 0 1.98912E-5
6-70048831-G-T p.Gly277Val missense BAI3 1 83322 1.20016E-5 41661 0 8.23778E-6
6-70048837-C-T p.Thr279Met missense BAI3 1 83322 1.20016E-5 41661 0 9.57365E-5
6-70048852-A-G p.Lys284Arg missense BAI3 1 83328 1.20008E-5 41664 0 8.23737E-6
6-70048875-G-A p.Ala292Thr missense BAI3 7 83272 8.40619E-5 41636 0 2.87081E-4
6-70048877-T-A p.Ala292Ala synonymous BAI3 2 83278 2.40159E-5 41639 0 3.97772E-6
6-70048888-C-T p.Thr296Ile missense BAI3 2 83258 2.40217E-5 41629 0 NA
6-70048892-C-T p.Thr297Thr synonymous BAI3 1 83296 1.20054E-5 41648 0 1.98929E-5
6-70048901-C-T p.Asn300Asn synonymous BAI3 1 83296 1.20054E-5 41648 0 2.47255E-5
6-70048906-T-C p.Met302Thr missense+splice_region BAI3 1 83272 1.20088E-5 41636 0 NA
6-70049218-T-C c.906-7T>C splice_region BAI3 1 83240 1.20135E-5 41620 0 1.1976E-5
6-70049228-G-A p.Ala303Ala synonymous BAI3 4 83338 4.79973E-5 41669 0 6.77339E-5
6-70049255-G-A p.Leu312Leu synonymous BAI3 1 83376 1.19939E-5 41688 0 NA
6-70049262-C-A p.Leu315Met missense BAI3 1 83388 1.19921E-5 41694 0 NA
6-70049273-G-A p.Thr318Thr synonymous BAI3 1 83396 1.1991E-5 41698 0 1.19317E-5
6-70049285-G-A p.Ala322Ala synonymous BAI3 5 83394 5.99564E-5 41697 0 5.7673E-5
6-70049290-T-C p.Leu324Pro missense BAI3 2 83398 2.39814E-5 41699 0 NA
6-70049294-C-A p.Ala325Ala synonymous BAI3 1 83394 1.19913E-5 41697 0 NA
6-70049295-A-T p.Met326Leu missense BAI3 1 83396 1.1991E-5 41698 0 NA
6-70049316-T-C p.Leu333Leu synonymous BAI3 1 83374 1.19941E-5 41687 0 1.9888E-5
6-70049324-A-G p.Gln335Gln synonymous BAI3 6 83366 7.19718E-5 41683 0 1.48314E-4
6-70049337-G-GT p.Phe341fs frameshift BAI3 1 83352 1.19973E-5 41676 0 NA
6-70049348-A-T p.Ser343Ser synonymous BAI3 1 83340 1.1999E-5 41670 0 2.47223E-5
6-70064125-G-A p.Val360Ile missense+splice_region BAI3 1 82872 1.20668E-5 41436 0 NA
6-70064132-A-T p.Asp362Val missense BAI3 1 82934 1.20578E-5 41467 0 NA
6-70064132-A-G p.Asp362Gly missense BAI3 1 82934 1.20578E-5 41467 0 1.59142E-5
6-70064133-T-C p.Asp362Asp synonymous BAI3 10 82954 1.20549E-4 41477 0 5.03525E-4
6-70064141-G-A p.Arg365Lys missense BAI3 2 83050 2.40819E-5 41525 0 3.18613E-5
6-70064147-G-A p.Arg367Gln missense BAI3 6 83070 7.22282E-5 41535 0 1.59398E-4
6-70064166-T-G p.Asp373Glu missense BAI3 1 83106 1.20328E-5 41553 0 NA
6-70064169-C-A p.Pro374Pro synonymous BAI3 1 83122 1.20305E-5 41561 0 3.97753E-5
6-70064177-C-A p.Ala377Glu missense BAI3 1 83126 1.20299E-5 41563 0 3.18613E-5
6-70064183-C-T p.Ser379Phe missense BAI3 1 83116 1.20314E-5 41558 0 NA
6-70064187-G-A p.Ser380Ser synonymous BAI3 16796 82670 0.203169 41335 1751 0.224068
6-70064192-C-T p.Ser382Leu missense BAI3 4 83072 4.8151E-5 41536 0 6.25E-4
6-70064193-G-A p.Ser382Ser synonymous BAI3 3 83076 3.61115E-5 41538 0 2.47129E-5
6-70064225-GT-G c.1173+6delT splice_region BAI3 53 82858 6.39649E-4 41429 0 5.73248E-4
6-70064225-GTT-G c.1173+6_1173+7delTT splice_region BAI3 6 82858 7.2413E-5 41429 0 2.86624E-4
6-70065709-A-G c.1174-4A>G splice_region BAI3 4 80970 4.9401E-5 40485 0 6.36902E-5
6-70065747-G-A p.Arg403Gln missense BAI3 1 81028 1.23414E-5 40514 0 8.24715E-6
6-70070756-C-T c.1214-5C>T splice_region BAI3 1 82162 1.21711E-5 41081 0 3.18735E-5
6-70070763-C-T p.Leu406Phe missense+splice_region BAI3 1 82168 1.21702E-5 41084 0 NA
6-70070771-G-A p.Lys408Lys synonymous BAI3 1 82218 1.21628E-5 41109 0 3.18756E-5
6-70070777-T-A p.Ile410Ile synonymous BAI3 1 82232 1.21607E-5 41116 0 4.08457E-6
6-70070778-G-C p.Gly411Arg missense BAI3 1 82244 1.21589E-5 41122 0 NA
6-70070778-G-T p.Gly411Cys missense BAI3 1 82242 1.21592E-5 41121 0 NA
6-70070787-C-T p.Arg414* stop_gained BAI3 1 82238 1.21598E-5 41119 0 NA
6-70070788-G-A p.Arg414Gln missense BAI3 3 82234 3.64813E-5 41117 0 3.63484E-5
6-70070796-A-G p.Thr417Ala missense BAI3 1 82260 1.21566E-5 41130 0 NA
6-70070805-G-A p.Gly420Arg missense BAI3 1 82186 1.21675E-5 41093 0 NA
6-70070809-C-A p.Thr421Lys missense BAI3 1 82148 1.21732E-5 41074 0 4.00898E-6
6-70070814-T-C p.Ser423Pro missense BAI3 1 82094 1.21812E-5 41047 0 NA
6-70070833-A-G p.Asp429Gly missense BAI3 1 81930 1.22055E-5 40965 0 8.28706E-6
6-70070835-G-C p.Asp430His missense BAI3 1 81922 1.22067E-5 40961 0 NA
6-70070837-TGAA-T p.Glu433del conservative_inframe_deletion BAI3 2 81924 2.44129E-5 40962 0 1.20082E-5
6-70070840-A-T p.Glu431Asp missense BAI3 4 81904 4.88377E-5 40952 0 1.2751E-4
6-70070859-C-A p.Pro438Thr missense BAI3 4 81782 4.89105E-5 40891 0 3.18939E-5
6-70070860-C-T p.Pro438Leu missense BAI3 2 81788 2.44535E-5 40894 0 3.18654E-5
6-70070893-A-G p.Asn449Ser missense BAI3 1 81668 1.22447E-5 40834 0 2.8028E-5
6-70070937-A-G p.Met464Val missense BAI3 4 81602 4.90184E-5 40801 0 8.28281E-6
6-70070948-T-A p.Ser467Arg missense BAI3 1 81600 1.22549E-5 40800 0 2.81643E-4
6-70070976-A-G p.Lys477Glu missense BAI3 2 81670 2.44888E-5 40835 0 NA
6-70070987-T-C p.Asn480Asn synonymous BAI3 1 81714 1.22378E-5 40857 0 NA
6-70070997-C-A p.Arg484Arg synonymous BAI3 256 81718 0.00313272 40859 0 0.00322087
6-70070998-G-A p.Arg484Gln missense BAI3 2 81744 2.44666E-5 40872 0 8.28308E-6
6-70071007-T-C p.Val487Ala missense BAI3 2 81778 2.44565E-5 40889 0 NA
6-70071011-C-T p.Tyr488Tyr synonymous BAI3 1 81770 1.22294E-5 40885 0 8.0041E-6
6-70071015-T-C p.Cys490Arg missense BAI3 1 81756 1.22315E-5 40878 0 2.86898E-4
6-70071019-C-T p.Thr491Met missense BAI3 3 81756 3.66946E-5 40878 0 6.37755E-5
6-70071020-GGAT-G p.Asp493del conservative_inframe_deletion BAI3 1 81760 1.22309E-5 40880 0 NA
6-70071023-T-A p.Asp492Glu missense BAI3 6 81784 7.3364E-5 40892 0 3.3129E-5
6-70071024-G-A p.Asp493Asn missense BAI3 9 81782 1.10049E-4 40891 0 8.28308E-5
6-70071029-T-A p.Asn494Lys missense BAI3 2 81782 2.44553E-5 40891 0 NA
6-70071033-A-G p.Arg496Gly missense BAI3 3 81782 3.66829E-5 40891 0 NA
6-70071041-T-C p.Ala498Ala synonymous BAI3 23 81770 2.81277E-4 40885 0 3.39725E-4
6-70071050-C-T p.Asp501Asp synonymous BAI3 32 81768 3.91351E-4 40884 0 0.00252016
6-70071052-T-C p.Ile502Thr missense BAI3 1 81772 1.22291E-5 40886 0 NA
6-70071056-C-G p.Val503Val synonymous BAI3 3 81784 3.6682E-5 40892 0 5.04032E-4
6-70071073-T-C p.Met509Thr missense BAI3 1 81798 1.22252E-5 40899 0 NA
6-70071075-A-C p.Met510Leu missense BAI3 1 81788 1.22267E-5 40894 0 4.00872E-6
6-70071075-A-T p.Met510Leu missense BAI3 1 81788 1.22267E-5 40894 0 8.29366E-6
6-70071082-G-A p.Ser512Asn missense BAI3 1 81770 1.22294E-5 40885 0 NA
6-70071089-T-C p.Tyr514Tyr synonymous BAI3 1 81806 1.2224E-5 40903 0 6.37267E-5
6-70071107-T-G p.Ser520Arg missense BAI3 1 81782 1.22276E-5 40891 0 NA
6-70071115-A-T p.Asn523Ile missense BAI3 1 81828 1.22208E-5 40914 0 NA
6-70071117-A-G p.Asn524Asp missense BAI3 1 81830 1.22205E-5 40915 0 NA
6-70071122-G-A p.Gln525Gln synonymous BAI3 1 81822 1.22217E-5 40911 0 1.65931E-5
6-70071132-AAAG-A p.Glu531del conservative_inframe_deletion BAI3 1 81812 1.22231E-5 40906 0 NA
6-70071135-G-A p.Glu530Lys missense BAI3 1 81822 1.22217E-5 40911 0 NA
6-70071144-A-C p.Lys533Gln missense BAI3 2 81850 2.44349E-5 40925 0 4.00413E-6
6-70071149-G-T p.Met534Ile missense BAI3 1 81822 1.22217E-5 40911 0 NA
6-70071154-T-G p.Ile536Ser missense BAI3 5 81796 6.11277E-5 40898 0 4.14456E-5
6-70071158-C-G p.Gly537Gly synonymous BAI3 1 81772 1.22291E-5 40886 0 3.18837E-5
6-70071161-G-GT p.Glu539fs frameshift BAI3 1 81758 1.22312E-5 40879 0 NA
6-70071162-G-GC p.Glu539fs frameshift BAI3 1 81742 1.22336E-5 40871 0 NA
6-70071169-T-C p.Leu541Ser missense BAI3 1 81774 1.22288E-5 40887 0 NA
6-70071172-C-T p.Pro542Leu missense BAI3 2 81716 2.4475E-5 40858 0 NA
6-70071173-G-A p.Pro542Pro synonymous BAI3 33350 81424 0.409584 40712 7250 0.486414
6-70071173-G-T p.Pro542Pro synonymous BAI3 1 81714 1.22378E-5 40857 0 NA
6-70071175-A-T p.His543Leu missense BAI3 1 81736 1.22345E-5 40868 0 NA
6-70071182-G-C p.Arg545Ser missense BAI3 1 81720 1.22369E-5 40860 0 NA
6-70071182-G-T p.Arg545Ser missense BAI3 1 81718 1.22372E-5 40859 0 8.26993E-6
6-70071184-T-C p.Leu546Pro missense BAI3 1 81722 1.22366E-5 40861 0 1.65363E-5
6-70071185-A-G p.Leu546Leu synonymous BAI3 4 81708 4.89548E-5 40854 0 5.03525E-4
6-70071198-G-C p.Val551Leu missense BAI3 3 81706 3.6717E-5 40853 0 8.26679E-6
6-70071203-C-A p.Asn552Lys missense BAI3 2 81710 2.44768E-5 40855 0 2.40012E-5
6-70071215-T-C p.Asn556Asn synonymous BAI3 1 81750 1.22324E-5 40875 0 NA
6-70071216-A-G p.Met557Val missense BAI3 2 81746 2.4466E-5 40873 0 NA
6-70071266-C-T p.Leu573Leu synonymous BAI3 3 81862 3.6647E-5 40931 0 0.00125
6-70071267-G-C p.Ala574Pro missense BAI3 2 81850 2.44349E-5 40925 0 NA
6-70071267-G-A p.Ala574Thr missense BAI3 1 81850 1.22175E-5 40925 0 1.65117E-5
6-70071268-C-T p.Ala574Val missense BAI3 1 81870 1.22145E-5 40935 0 3.99495E-6
6-70071288-A-G p.Asn581Asp missense BAI3 1 81918 1.22073E-5 40959 0 8.25491E-6
6-70071296-C-G p.Pro583Pro synonymous BAI3 6 81942 7.32225E-5 40971 0 3.19616E-5
6-70071307-G-T p.Arg587Leu missense BAI3 1 81948 1.22029E-5 40974 0 0.0011794
6-70071318-A-C p.Lys591Gln missense BAI3 1 81972 1.21993E-5 40986 0 3.99537E-6
6-70071326-C-T p.Phe593Phe synonymous BAI3 1 81944 1.22035E-5 40972 0 8.26187E-6
6-70071331-C-T p.Ala595Val missense BAI3 1 81938 1.22043E-5 40969 0 8.26419E-6
6-70071352-C-A p.Ala602Glu missense BAI3 2 81844 2.44367E-5 40922 0 NA
6-70071353-A-G p.Ala602Ala synonymous BAI3 18 81838 2.19947E-4 40919 0 6.05481E-4
6-70071357-C-T p.Leu604Leu synonymous BAI3 7 81780 8.55955E-5 40890 0 6.37389E-5
6-70071382-C-T p.Thr612Met missense BAI3 11 81414 1.35112E-4 40707 0 9.56511E-5
6-70071382-C-A p.Thr612Lys missense BAI3 1 81414 1.22829E-5 40707 0 NA
6-70071398-T-C p.Ser617Ser synonymous BAI3 1 81062 1.23362E-5 40531 0 4.03441E-6
6-70082299-G-C p.Arg620Thr missense+splice_region BAI3 1 76246 1.31154E-5 38123 0 1.32887E-5
6-70082310-C-T p.Arg624* stop_gained BAI3 1 76074 1.31451E-5 38037 0 NA
6-70082311-G-A p.Arg624Gln missense BAI3 3 76140 3.94011E-5 38070 0 6.39018E-5
6-70092717-T-A c.1894-6T>A splice_region BAI3 5 81064 6.16797E-5 40532 0 6.37308E-5
6-70092726-G-A p.Val633Ile missense BAI3 1 81428 1.22808E-5 40714 0 NA
6-70092765-G-A p.Glu646Lys missense BAI3 1 81946 1.22032E-5 40973 0 8.39884E-6
6-70092767-A-G p.Glu646Glu synonymous BAI3 4 81926 4.88245E-5 40963 0 NA
6-70092770-A-C p.Leu647Leu synonymous BAI3 3 81940 3.66122E-5 40970 0 3.36123E-5
6-70092785-A-G p.Gln652Gln synonymous BAI3 39 81958 4.75853E-4 40979 0 4.98954E-4
6-70092801-C-T p.Arg658Trp missense BAI3 2 81808 2.44475E-5 40904 0 NA
6-70092803-G-A p.Arg658Arg synonymous BAI3 1 81812 1.22231E-5 40906 0 4.04008E-6
6-70092810-C-T p.Pro661Ser missense BAI3 1 81674 1.22438E-5 40837 0 NA
6-70092816-A-G p.Thr663Ala missense BAI3 1 81590 1.22564E-5 40795 0 8.66026E-6
6-70098590-A-G c.1999-5A>G splice_region BAI3 27 82922 3.25607E-4 41461 0 6.69301E-4
6-70098604-G-A p.Ala670Thr missense BAI3 1 82942 1.20566E-5 41471 0 4.00513E-5
6-70098610-A-G p.Asn672Asp missense BAI3 1 82994 1.20491E-5 41497 0 NA
6-70098633-C-G p.Phe679Leu missense BAI3 1 83004 1.20476E-5 41502 0 1.65912E-5
6-70098639-C-T p.Asn681Asn synonymous BAI3 42 82992 5.06073E-4 41496 0 0.00125
6-70098642-C-T p.Pro682Pro synonymous BAI3 4 82980 4.82044E-5 41490 0 NA
6-70098653-C-T p.Pro686Leu missense BAI3 2 82946 2.41121E-5 41473 0 2.48628E-4
6-70098654-G-A p.Pro686Pro synonymous BAI3 1 82928 1.20587E-5 41464 0 3.19303E-5
6-70098664-A-G p.Thr690Ala missense BAI3 1 82878 1.20659E-5 41439 0 3.18532E-5
6-70098670-A-G p.Asn692Asp missense BAI3 2 82842 2.41423E-5 41421 0 8.27856E-6
6-70098687-G-A p.Glu697Glu synonymous BAI3 1 82728 1.20878E-5 41364 0 0.001875
6-70098688-G-A p.Ala698Thr missense BAI3 1 82704 1.20913E-5 41352 0 NA
6-70098695-A-T p.Asp700Val missense BAI3 1 82662 1.20975E-5 41331 0 NA
6-70098710-G-A p.Arg705Lys missense BAI3 1 82592 1.21077E-5 41296 0 NA
6-70098735-G-A p.Leu713Leu synonymous BAI3 4 82600 4.84262E-5 41300 0 3.59474E-5
6-70098748-G-A p.Asp718Asn missense BAI3 5 82614 6.05224E-5 41307 0 3.18573E-5
6-70098759-G-A p.Glu721Glu synonymous BAI3 1 82618 1.21039E-5 41309 0 2.50966E-5
6-70098767-T-C p.Phe724Ser missense BAI3 1 82588 1.21083E-5 41294 0 NA