Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-10564480-C-T c.-100C>T 5_prime_UTR_premature_start_codon_gain ANKRD33B 1 20908 4.78286E-5 10454 0 NA
5-10564511-C-T c.-69C>T 5_prime_UTR_premature_start_codon_gain ANKRD33B 1 24916 4.01349E-5 12458 0 NA
5-10564543-C-T c.-37C>T 5_prime_UTR_premature_start_codon_gain ANKRD33B 2 32460 6.16143E-5 16230 0 NA
5-10564569-C-T c.-11C>T 5_prime_UTR_premature_start_codon_gain ANKRD33B 1 38748 2.58078E-5 19374 0 NA
5-10564585-G-A p.Val2Val synonymous ANKRD33B 3 49918 6.00986E-5 24959 0 3.44661E-5
5-10564599-C-T p.Thr7Ile missense ANKRD33B 1 54494 1.83506E-5 27247 0 NA
5-10564604-C-T p.Pro9Ser missense ANKRD33B 1 56024 1.78495E-5 28012 0 2.36183E-4
5-10564632-C-T p.Thr18Ile missense ANKRD33B 5 66070 7.56773E-5 33035 0 NA
5-10564641-C-G p.Pro21Arg missense ANKRD33B 1 68524 1.45934E-5 34262 0 NA
5-10564648-C-G p.Ser23Ser synonymous ANKRD33B 1 70500 1.41844E-5 35250 0 6.53552E-5
5-10564675-G-A p.Glu32Glu synonymous ANKRD33B 1 74312 1.34568E-5 37156 0 NA
5-10564681-C-A p.Pro34Pro synonymous ANKRD33B 1 74958 1.33408E-5 37479 0 7.19621E-6
5-10564689-AC-A p.Tyr37fs frameshift ANKRD33B 1 75796 1.31933E-5 37898 0 NA
5-10564691-G-A p.Glu38Lys missense ANKRD33B 7 75934 9.21853E-5 37967 0 7.16589E-5
5-10564694-G-C p.Glu39Gln missense ANKRD33B 1 76150 1.3132E-5 38075 0 3.57843E-5
5-10564710-C-T p.Ser44Leu missense ANKRD33B 1 76836 1.30147E-5 38418 0 NA
5-10564724-A-G p.Thr49Ala missense ANKRD33B 1 77222 1.29497E-5 38611 0 NA
5-10564732-C-T p.Ser51Ser synonymous ANKRD33B 37 77358 4.78296E-4 38679 0 0.00129199
5-10564744-C-A p.Asp55Glu missense ANKRD33B 1 77498 1.29036E-5 38749 0 NA
5-10564748-TCTTTCTACC-T p.Tyr59_Phe61del conservative_inframe_deletion ANKRD33B 1 77572 1.28912E-5 38786 0 NA
5-10564761-T-A p.Phe61Tyr missense ANKRD33B 1 77608 1.28853E-5 38804 0 7.12565E-6
5-10564774-G-A p.Glu65Glu synonymous ANKRD33B 6 77536 7.73834E-5 38768 0 2.87228E-4
5-10564788-A-G p.Glu70Gly missense ANKRD33B 1 77300 1.29366E-5 38650 0 NA
5-10564793-G-T p.Ala72Ser missense ANKRD33B 10 77138 1.29638E-4 38569 0 6.45393E-5
5-10564798-GAGCGTCCCGGAGGGCGTCCCGGAA-G p.Gly78_Glu85del conservative_inframe_deletion ANKRD33B 2 77086 2.5945E-5 38543 0 1.43759E-5
5-10564799-AGCGTCCCGGAGG-A p.Gly78_Glu81del disruptive_inframe_deletion ANKRD33B 5 77032 6.49081E-5 38516 0 1.23168E-4
5-10564799-A-AGCGTCCCGGAGG p.Glu81_Ser82insGlyValProGlu disruptive_inframe_insertion ANKRD33B 1 77032 1.29816E-5 38516 0 3.19264E-5
5-10564806-C-G p.Pro76Arg missense ANKRD33B 1 76898 1.30042E-5 38449 0 NA
5-10564815-T-C p.Val79Ala missense ANKRD33B 1 76570 1.30599E-5 38285 0 NA
5-10564819-G-A p.Pro80Pro synonymous ANKRD33B 2 76538 2.61308E-5 38269 0 NA
5-10564831-G-A p.Pro84Pro synonymous ANKRD33B 1 76082 1.31437E-5 38041 0 NA
5-10564833-A-G p.Glu85Gly missense ANKRD33B 2 75888 2.63546E-5 37944 0 NA
5-10564845-T-A p.Leu89His missense ANKRD33B 2 75234 2.65837E-5 37617 0 NA
5-10564846-C-T p.Leu89Leu synonymous ANKRD33B 70604 71904 0.98192 35952 34700 0.993108
5-10564849-G-C p.Leu90Leu synonymous ANKRD33B 2 74924 2.66937E-5 37462 0 5.14282E-5
5-10564851-G-T p.Arg91Leu missense ANKRD33B 2 74754 2.67544E-5 37377 0 NA
5-10564855-C-T p.Ala92Ala synonymous ANKRD33B 1 74730 1.33815E-5 37365 0 3.18979E-5
5-10564856-G-C p.Ala93Pro missense ANKRD33B 1 74672 1.33919E-5 37336 0 NA
5-10564857-C-T p.Ala93Val missense ANKRD33B 1 74658 1.33944E-5 37329 0 7.3717E-6
5-10564867-C-T p.Asn96Asn synonymous ANKRD33B 3 74432 4.03052E-5 37216 0 NA
5-10564870-C-T p.Asn97Asn synonymous ANKRD33B 216 74248 0.00290917 37124 0 0.00509538
5-10564884-G-T p.Arg102Leu missense ANKRD33B 1 73224 1.36567E-5 36612 0 NA
5-10564888-G-A p.Thr103Thr synonymous ANKRD33B 3 72788 4.12156E-5 36394 0 3.18898E-5
5-10564890-T-C p.Leu104Pro missense ANKRD33B 2 72704 2.75088E-5 36352 0 NA
5-10564896-G-A p.Arg106Gln missense ANKRD33B 2 72016 2.77716E-5 36008 0 NA
5-10564896-G-C p.Arg106Pro missense ANKRD33B 2 72016 2.77716E-5 36008 0 7.55344E-6
5-10564921-G-T p.Ala114Ala synonymous ANKRD33B 1 68126 1.46787E-5 34063 0 NA
5-10564939-C-T p.Asn120Asn synonymous ANKRD33B 2 64444 3.10347E-5 32222 0 NA
5-10564951-C-T c.366+6C>T splice_region ANKRD33B 1 60626 1.64946E-5 30313 0 5.84385E-5
5-10618447-C-T p.Thr123Thr splice_region+synonymous ANKRD33B 92 82272 0.00111824 41136 2 0.001875
5-10618448-G-A p.Gly124Ser missense ANKRD33B 1 82318 1.2148E-5 41159 0 1.36368E-5
5-10618459-C-T p.Val127Val synonymous ANKRD33B 1 82490 1.21227E-5 41245 0 6.37024E-5
5-10618467-A-G p.Tyr130Cys missense ANKRD33B 2 82540 2.42307E-5 41270 0 NA
5-10618471-C-T p.His131His synonymous ANKRD33B 11 82582 1.33201E-4 41291 0 1.63664E-4
5-10618477-TG-T p.Val134fs frameshift ANKRD33B 1 82610 1.21051E-5 41305 0 NA
5-10618479-TGGATACCGTG-T p.Asp135fs frameshift ANKRD33B 1 82604 1.2106E-5 41302 0 NA
5-10618482-A-G p.Asp135Gly missense ANKRD33B 1 82604 1.2106E-5 41302 0 NA
5-10618486-C-T p.Thr136Thr synonymous ANKRD33B 3 82548 3.63425E-5 41274 0 9.88435E-5
5-10618506-G-A p.Cys143Tyr missense ANKRD33B 6 82578 7.26586E-5 41289 0 1.59307E-4
5-10618519-C-T p.Asp147Asp synonymous ANKRD33B 6 82578 7.26586E-5 41289 0 5.05868E-5
5-10618520-G-A p.Val148Ile missense ANKRD33B 1 82584 1.21089E-5 41292 0 3.18451E-5
5-10618526-T-G p.Trp150Gly missense ANKRD33B 15 82592 1.81616E-4 41296 1 6.89417E-5
5-10618537-C-T p.Ser153Ser synonymous ANKRD33B 11 82574 1.33214E-4 41287 0 1.07193E-4
5-10618547-A-G p.Thr157Ala missense ANKRD33B 1 82548 1.21142E-5 41274 0 NA
5-10618552-C-T p.Ala158Ala synonymous ANKRD33B 1 82554 1.21133E-5 41277 0 NA
5-10618579-G-A c.496+5G>A splice_region ANKRD33B 1 82422 1.21327E-5 41211 0 NA
5-10624855-T-A p.Met172Lys missense ANKRD33B 2 43852 4.5608E-5 21926 0 3.1839E-5
5-10624866-T-G p.Ser176Ala missense ANKRD33B 9178 43822 0.209438 21911 953 0.203373
5-10624874-C-CA p.Thr179fs frameshift ANKRD33B 1 44532 2.24558E-5 22266 0 NA
5-10624875-A-G p.Thr179Ala missense ANKRD33B 9 44554 2.02002E-4 22277 0 8.02826E-5
5-10624887-T-C p.Ser183Pro missense ANKRD33B 22241 44208 0.503099 22104 5646 0.592616
5-10624892-C-T p.Cys184Cys synonymous ANKRD33B 1 44876 2.22836E-5 22438 0 3.1841E-5
5-10624893-G-A p.Ala185Thr missense ANKRD33B 1 44900 2.22717E-5 22450 0 7.39197E-6
5-10624897-C-G p.Ser186Cys missense ANKRD33B 1 44996 2.22242E-5 22498 0 2.95652E-5
5-10624898-C-T p.Ser186Ser synonymous ANKRD33B 3 45010 6.66519E-5 22505 0 2.21707E-5
5-10624899-G-A p.Gly187Ser missense ANKRD33B 1167 45000 0.0259333 22500 15 0.02416
5-10624902-G-A p.Val188Ile missense ANKRD33B 3 45098 6.65218E-5 22549 0 3.69489E-5
5-10624906-G-A p.Ser189Asn missense ANKRD33B 79 45132 0.00175042 22566 0 0.00439147
5-10624918-C-T p.Ala193Val missense ANKRD33B 1 45194 2.21268E-5 22597 0 1.47874E-5
5-10624925-A-G p.Ser195Ser synonymous ANKRD33B 1 45186 2.21307E-5 22593 0 NA
5-10625293-G-A c.*356G>A splice_region ANKRD33B 1 1444 6.92521E-4 722 0 NA
5-10625294-G-A c.*356+1G>A splice_donor ANKRD33B 24 1408 0.0170455 704 0 0.0304459
5-10638133-T-G c.497-7T>G splice_region ANKRD33B 1 82508 1.212E-5 41254 0 NA
5-10638135-T-C c.497-5T>C splice_region ANKRD33B 1 82518 1.21186E-5 41259 0 NA
5-10638145-G-A p.Ala168Thr missense ANKRD33B 1 82550 1.21139E-5 41275 0 2.05756E-5
5-10638146-C-T p.Ala168Val missense ANKRD33B 1 82556 1.2113E-5 41278 0 NA
5-10638147-T-C p.Ala168Ala synonymous ANKRD33B 2 82558 2.42254E-5 41279 0 6.8573E-6
5-10638148-A-G p.Ile169Val missense ANKRD33B 481 82554 0.00582649 41277 8 0.0126441
5-10638150-C-T p.Ile169Ile synonymous ANKRD33B 1 82572 1.21106E-5 41286 0 NA
5-10638151-A-G p.Ile170Val missense ANKRD33B 1 82578 1.21098E-5 41289 0 NA
5-10638153-CACTA-C p.Asn172fs frameshift ANKRD33B 2 82586 2.42172E-5 41293 0 NA
5-10638154-A-G p.Thr171Ala missense ANKRD33B 5 82578 6.05488E-5 41289 0 7.54086E-5
5-10638162-C-T p.Tyr173Tyr synonymous ANKRD33B 3 82588 3.63249E-5 41294 0 4.95737E-5
5-10638180-T-C p.Pro179Pro synonymous ANKRD33B 36448 82126 0.443806 41063 8172 0.508434
5-10638183-T-C p.Gly180Gly synonymous ANKRD33B 1 82580 1.21095E-5 41290 0 6.86229E-6
5-10638197-G-T p.Arg185Met missense ANKRD33B 1 82546 1.21145E-5 41273 0 NA
5-10638205-G-A p.Ala188Thr missense ANKRD33B 11 82510 1.33317E-4 41255 0 3.01144E-4
5-10638219-C-A p.Thr192Thr synonymous ANKRD33B 173 82478 0.00209753 41239 1 0.00500223
5-10638219-C-T p.Thr192Thr synonymous ANKRD33B 1 82478 1.21244E-5 41239 0 1.38001E-5
5-10638220-G-T p.Ala193Ser missense ANKRD33B 2 82472 2.42507E-5 41236 0 NA
5-10638225-G-T p.Leu194Leu synonymous ANKRD33B 1 82458 1.21274E-5 41229 0 1.52207E-4
5-10638234-C-T p.Ala197Ala synonymous ANKRD33B 3 82438 3.6391E-5 41219 0 1.38108E-5
5-10638238-A-G p.Met199Val missense ANKRD33B 11 82422 1.3346E-4 41211 0 2.86734E-4
5-10638239-T-C p.Met199Thr missense ANKRD33B 1 82426 1.21321E-5 41213 0 NA
5-10638241-C-G p.Gln200Glu missense ANKRD33B 1 82424 1.21324E-5 41212 0 NA
5-10638244-G-A p.Gly201Ser missense ANKRD33B 3 82414 3.64016E-5 41207 0 NA
5-10638251-C-T p.Thr203Met missense ANKRD33B 3 82388 3.64131E-5 41194 0 0.00242131
5-10638252-G-A p.Thr203Thr synonymous ANKRD33B 2 82372 2.42801E-5 41186 0 3.18532E-5
5-10638263-G-A p.Arg207Gln missense ANKRD33B 2 82338 2.42901E-5 41169 0 NA
5-10638280-G-A p.Gly213Arg missense+splice_region ANKRD33B 2 82288 2.43049E-5 41144 0 3.18613E-5
5-10638284-T-C c.637+4T>C splice_region ANKRD33B 1 82274 1.21545E-5 41137 0 NA
5-10638287-C-T c.637+7C>T splice_region ANKRD33B 1 82242 1.21592E-5 41121 0 6.93703E-6
5-10649373-T-C c.638-5T>C splice_region ANKRD33B 4 77664 5.15039E-5 38832 0 2.61849E-4
5-10649377-G-T c.638-1G>T splice_acceptor ANKRD33B 1 77742 1.28631E-5 38871 0 NA
5-10649382-G-A p.Ala214Ala synonymous ANKRD33B 2 77798 2.57076E-5 38899 0 1.48974E-5
5-10649394-G-A p.Ala218Ala synonymous ANKRD33B 1 77854 1.28446E-5 38927 0 7.40466E-6
5-10649399-AC-A p.Arg222fs frameshift ANKRD33B 1 77714 1.28677E-5 38857 0 NA
5-10649412-G-C p.Gly224Gly synonymous ANKRD33B 2161 78320 0.0275919 39160 71 0.045496
5-10649420-C-CCAATTAGTTGAGG p.Gln228fs frameshift ANKRD33B 1 78484 1.27415E-5 39242 0 NA
5-10649423-A-G p.Gln228Arg missense ANKRD33B 1 78534 1.27333E-5 39267 0 7.68876E-5
5-10649435-C-T p.Thr232Ile missense ANKRD33B 4 78556 5.09191E-5 39278 0 1.53563E-4
5-10649462-G-A p.Arg241His missense ANKRD33B 4 78444 5.09918E-5 39222 0 3.1904E-5
5-10649471-A-G p.Gln244Arg missense ANKRD33B 3 78340 3.82946E-5 39170 0 7.80762E-5
5-10649474-G-A p.Arg245Lys missense ANKRD33B 1 78314 1.27691E-5 39157 0 NA
5-10649474-G-T p.Arg245Met missense ANKRD33B 1 78314 1.27691E-5 39157 0 3.19122E-5
5-10649476-C-T p.Leu246Leu synonymous ANKRD33B 3 78250 3.83387E-5 39125 0 2.19423E-5
5-10649476-C-A p.Leu246Met missense ANKRD33B 2 78250 2.55591E-5 39125 0 NA
5-10649482-G-A p.Glu248Lys missense ANKRD33B 4 78028 5.12637E-5 39014 0 8.79056E-5
5-10649485-C-T p.Arg249Cys missense ANKRD33B 1 77776 1.28574E-5 38888 0 7.33848E-6
5-10649496-G-A p.Pro252Pro synonymous ANKRD33B 2 77698 2.57407E-5 38849 0 6.391E-5
5-10649498-A-G p.Glu253Gly missense ANKRD33B 1 77636 1.28806E-5 38818 0 NA
5-10649518-C-T p.Arg260Trp missense ANKRD33B 3 77128 3.88964E-5 38564 0 2.21441E-5
5-10649519-G-A p.Arg260Gln missense ANKRD33B 1 77064 1.29762E-5 38532 0 NA
5-10649519-G-C p.Arg260Pro missense ANKRD33B 1 77064 1.29762E-5 38532 0 NA
5-10649519-G-T p.Arg260Leu missense ANKRD33B 1 77064 1.29762E-5 38532 0 0.00126422
5-10649520-G-A p.Arg260Arg synonymous ANKRD33B 1 76952 1.29951E-5 38476 0 NA
5-10649523-C-T p.Pro261Pro synonymous ANKRD33B 7 76734 9.12242E-5 38367 0 8.87758E-5
5-10649524-G-A p.Glu262Lys missense ANKRD33B 1 76672 1.30426E-5 38336 0 8.03988E-5
5-10649525-AGCT-A p.Leu263del disruptive_inframe_deletion ANKRD33B 1 76598 1.30552E-5 38299 0 1.48023E-5
5-10649532-G-T p.Pro264Pro synonymous ANKRD33B 1 76338 1.30996E-5 38169 0 NA
5-10649540-C-A p.Pro267His missense ANKRD33B 2 76374 2.61869E-5 38187 0 7.41972E-6
5-10649546-C-T p.Ala269Val missense ANKRD33B 2 76018 2.63096E-5 38009 0 NA
5-10649547-G-A p.Ala269Ala synonymous ANKRD33B 11 75878 1.4497E-4 37939 0 3.51325E-4
5-10649551-C-G p.Arg271Gly missense ANKRD33B 2 75542 2.64753E-5 37771 0 7.4509E-6
5-10649551-C-T p.Arg271Trp missense ANKRD33B 2 75542 2.64753E-5 37771 0 NA
5-10649559-C-T p.Pro273Pro synonymous ANKRD33B 2 75512 2.64859E-5 37756 0 3.19754E-5
5-10649560-G-A p.Ala274Thr missense ANKRD33B 4 75460 5.30082E-5 37730 0 3.20061E-5
5-10649564-G-C p.Gly275Ala missense ANKRD33B 1 75236 1.32915E-5 37618 0 3.72528E-5
5-10649578-C-T p.Leu280Leu synonymous ANKRD33B 26 75324 3.45176E-4 37662 0 2.45656E-4
5-10649584-A-G p.Arg282Gly missense ANKRD33B 2 75278 2.65682E-5 37639 0 NA
5-10649601-G-C p.Val287Val synonymous ANKRD33B 825 74786 0.0110315 37393 20 0.020371
5-10649607-C-G p.Ser289Ser synonymous ANKRD33B 1 74730 1.33815E-5 37365 0 NA
5-10649615-C-T p.Thr292Met missense ANKRD33B 1 74550 1.34138E-5 37275 0 NA
5-10649616-G-A p.Thr292Thr synonymous ANKRD33B 1 74448 1.34322E-5 37224 0 6.71782E-5
5-10649618-C-A p.Pro293Gln missense ANKRD33B 1 74400 1.34409E-5 37200 0 7.45857E-6
5-10649622-C-T p.Arg294Arg synonymous ANKRD33B 1 74454 1.34311E-5 37227 0 NA
5-10649625-C-T p.Ser295Ser synonymous ANKRD33B 706 74320 0.00949946 37160 6 0.028607
5-10649625-CGTGCGG-C p.Val296_Arg297del disruptive_inframe_deletion ANKRD33B 1 74360 1.34481E-5 37180 0 NA
5-10649626-G-A p.Val296Met missense ANKRD33B 1 74338 1.34521E-5 37169 0 NA
5-10649631-G-T p.Arg297Arg synonymous ANKRD33B 1 74244 1.34691E-5 37122 0 NA
5-10649634-C-CCCGGAGGA p.Gly302fs frameshift ANKRD33B 1 74152 1.34858E-5 37076 0 7.47596E-6
5-10649643-C-T p.Asp301Asp synonymous ANKRD33B 1 74234 1.34709E-5 37117 0 3.20307E-5
5-10649644-G-C p.Gly302Arg missense ANKRD33B 1 74292 1.34604E-5 37146 0 7.47865E-6
5-10649652-C-T p.Val304Val synonymous ANKRD33B 1 74338 1.34521E-5 37169 0 NA
5-10649668-C-T p.Arg310Trp missense ANKRD33B 1 74020 1.35099E-5 37010 0 7.66906E-6
5-10649678-C-A p.Thr313Lys missense ANKRD33B 1 74006 1.35124E-5 37003 0 NA
5-10649681-G-A p.Ser314Asn missense ANKRD33B 2 75364 2.65379E-5 37682 0 3.19898E-5
5-10649685-C-T p.Leu315Leu synonymous ANKRD33B 195 75782 0.00257317 37891 0 0.00576037
5-10649691-C-T p.Ser317Ser synonymous ANKRD33B 1 76546 1.3064E-5 38273 0 NA
5-10649695-G-A p.Ala319Thr missense ANKRD33B 1 76846 1.3013E-5 38423 0 1.62127E-4
5-10649698-G-T p.Val320Leu missense ANKRD33B 1 77024 1.2983E-5 38512 0 6.63384E-5
5-10649698-G-A p.Val320Met missense ANKRD33B 1 77024 1.2983E-5 38512 0 NA
5-10649706-C-T p.Ile322Ile synonymous ANKRD33B 2 77222 2.58994E-5 38611 0 3.19326E-5
5-10649723-G-T p.Cys328Phe missense ANKRD33B 1 77046 1.29793E-5 38523 0 0.00313808
5-10649724-C-T p.Cys328Cys synonymous ANKRD33B 2 77018 2.5968E-5 38509 0 7.34398E-6
5-10649727-T-C p.Pro329Pro synonymous ANKRD33B 1 76992 1.29884E-5 38496 0 7.33859E-6
5-10649735-C-A p.Pro332His missense ANKRD33B 18 76922 2.34003E-4 38461 0 9.94036E-4
5-10649738-C-T p.Pro333Leu missense ANKRD33B 4 76848 5.20508E-5 38424 0 3.83362E-4
5-10649747-G-A p.Gly336Glu missense ANKRD33B 2 76682 2.60817E-5 38341 0 NA
5-10649759-T-C p.Leu340Pro missense ANKRD33B 1 76140 1.31337E-5 38070 0 7.38345E-6
5-10649763-G-A p.Ala341Ala synonymous ANKRD33B 1 75970 1.31631E-5 37985 0 9.63391E-4
5-10649773-A-C p.Ile345Leu missense ANKRD33B 1 75680 1.32135E-5 37840 0 NA
5-10649782-G-T p.Ala348Ser missense ANKRD33B 2 75168 2.66071E-5 37584 0 NA
5-10649783-CG-AA p.Ala348Glu missense ANKRD33B 2 75074 2.66404E-5 37537 0 NA
5-10649783-C-A p.Ala348Glu missense ANKRD33B 1 75074 1.33202E-5 37537 0 3.004E-4
5-10649784-G-A p.Ala348Ala synonymous ANKRD33B 21093 73872 0.285534 36936 2955 0.293945
5-10649785-C-T p.Arg349Trp missense ANKRD33B 1 74978 1.33372E-5 37489 0 9.88338E-5
5-10649786-G-A p.Arg349Gln missense ANKRD33B 2 74950 2.66845E-5 37475 0 NA
5-10649789-C-T p.Ala350Val missense ANKRD33B 1 74718 1.33837E-5 37359 0 NA
5-10649794-C-T p.Arg352Trp missense ANKRD33B 1 74602 1.34045E-5 37301 0 NA
5-10649794-C-G p.Arg352Gly missense ANKRD33B 1 74602 1.34045E-5 37301 0 6.48508E-4
5-10649795-G-A p.Arg352Gln missense ANKRD33B 3 74610 4.02091E-5 37305 0 1.05352E-4
5-10649795-G-T p.Arg352Leu missense ANKRD33B 3 74610 4.02091E-5 37305 0 3.16056E-4
5-10649799-C-T p.Gly353Gly synonymous ANKRD33B 1 74152 1.34858E-5 37076 0 6.28229E-5
5-10649803-C-T p.Gln355* stop_gained ANKRD33B 1 74174 1.34818E-5 37087 0 NA
5-10649809-C-A p.Gln357Lys missense ANKRD33B 3 73674 4.07199E-5 36837 0 1.59352E-5
5-10649815-G-A p.Glu359Lys missense ANKRD33B 110 73396 0.00149872 36698 0 0.00355359
5-10649825-T-TG p.Ala365fs frameshift ANKRD33B 1 72652 1.37642E-5 36326 0 NA
5-10649833-G-A p.Ala365Thr missense ANKRD33B 2 71670 2.79057E-5 35835 0 9.81682E-6
5-10649834-C-T p.Ala365Val missense ANKRD33B 1 71448 1.39962E-5 35724 0 2.15703E-4
5-10649841-GC-TT p.GlnArg367HisCys missense ANKRD33B 155 70714 0.00219193 35357 1 NA
5-10649841-G-T p.Gln367His missense ANKRD33B 9 70708 1.27284E-4 35354 1 0.00415272
5-10649842-C-T p.Arg368Cys missense ANKRD33B 21 70506 2.97847E-4 35253 1 0.00445305
5-10649843-G-A p.Arg368His missense ANKRD33B 3 70390 4.26197E-5 35195 0 2.68097E-4
5-10649850-G-T p.Arg370Arg synonymous ANKRD33B 1 69334 1.44229E-5 34667 0 NA
5-10649854-G-A p.Gly372Arg missense ANKRD33B 700 68964 0.0101502 34482 17 0.0196553
5-10649858-A-G p.Gln373Arg missense ANKRD33B 1 68830 1.45285E-5 34415 0 NA
5-10649859-G-A p.Gln373Gln synonymous ANKRD33B 1 68746 1.45463E-5 34373 0 1.50811E-5
5-10649864-A-G p.Asp375Gly missense ANKRD33B 3 67838 4.4223E-5 33919 0 1.26404E-4
5-10649869-G-C p.Asp377His missense ANKRD33B 1 67084 1.49067E-5 33542 0 NA
5-10649876-G-A p.Arg379Gln missense ANKRD33B 1 66746 1.49822E-5 33373 0 NA
5-10649881-G-A p.Gly381Ser missense ANKRD33B 1 66282 1.50871E-5 33141 0 3.24401E-5
5-10649883-C-T p.Gly381Gly synonymous ANKRD33B 1 65804 1.51966E-5 32902 0 NA
5-10649891-G-C p.Arg384Thr missense ANKRD33B 2 65388 3.05867E-5 32694 0 NA
5-10649901-C-A p.Leu387Leu synonymous ANKRD33B 4 64902 6.16314E-5 32451 0 NA
5-10649902-C-T p.Pro388Ser missense ANKRD33B 21 64842 3.23864E-4 32421 0 0.00618812
5-10649905-C-T p.Pro389Ser missense ANKRD33B 1 64894 1.54097E-5 32447 0 NA
5-10649907-C-T p.Pro389Pro synonymous ANKRD33B 1 64732 1.54483E-5 32366 0 3.2476E-5
5-10649925-C-T p.Gly395Gly synonymous ANKRD33B 2 64080 3.1211E-5 32040 0 NA
5-10649933-C-T p.Ala398Val missense ANKRD33B 432 64696 0.00667738 32348 6 0.0148938
5-10649934-G-T p.Ala398Ala synonymous ANKRD33B 1 64828 1.54254E-5 32414 0 NA
5-10649938-G-C p.Ala400Pro missense ANKRD33B 1 65074 1.53671E-5 32537 0 NA
5-10649949-G-A p.Lys403Lys synonymous ANKRD33B 3 66664 4.50018E-5 33332 0 NA
5-10649961-G-A p.Leu407Leu synonymous ANKRD33B 2 67836 2.94829E-5 33918 0 1.35664E-4
5-10649962-C-T p.Pro408Ser missense ANKRD33B 2 67936 2.94395E-5 33968 0 7.51541E-5
5-10649963-C-G p.Pro408Arg missense ANKRD33B 1 68090 1.46864E-5 34045 0 NA
5-10649964-C-T p.Pro408Pro synonymous ANKRD33B 1 68174 1.46683E-5 34087 0 NA
5-10649982-G-A p.Arg414Arg synonymous ANKRD33B 6 70060 8.56409E-5 35030 0 NA
5-10649990-T-G p.Val417Gly missense ANKRD33B 1 71010 1.40825E-5 35505 0 NA
5-10649991-G-T p.Val417Val synonymous ANKRD33B 1 71084 1.40679E-5 35542 0 NA
5-10649993-G-A p.Arg418Gln missense ANKRD33B 2 71322 2.80418E-5 35661 0 NA
5-10649994-G-A p.Arg418Arg synonymous ANKRD33B 1 71528 1.39805E-5 35764 0 NA
5-10650005-T-C p.Val422Ala missense ANKRD33B 2 72724 2.75012E-5 36362 0 3.23102E-5
5-10650006-G-A p.Val422Val synonymous ANKRD33B 234 72856 0.00321182 36428 0 0.012761
5-10650010-C-T p.Pro424Ser missense ANKRD33B 1 72958 1.37065E-5 36479 0 NA
5-10650034-C-T p.Pro432Ser missense ANKRD33B 1 74874 1.33558E-5 37437 0 7.78041E-6
5-10650036-C-T p.Pro432Pro synonymous ANKRD33B 1 75040 1.33262E-5 37520 0 3.2144E-5
5-10650036-C-G p.Pro432Pro synonymous ANKRD33B 1 75042 1.33259E-5 37521 0 3.2144E-5
5-10650037-G-A p.Ala433Thr missense ANKRD33B 3 75064 3.99659E-5 37532 0 3.21564E-5
5-10650042-C-G p.Pro434Pro synonymous ANKRD33B 296 75512 0.00391991 37756 6 0.00812616
5-10650052-C-T p.Pro438Ser missense ANKRD33B 2 75866 2.63623E-5 37933 0 7.54375E-5
5-10650054-C-G p.Pro438Pro synonymous ANKRD33B 3 76004 3.94716E-5 38002 0 7.50492E-6
5-10650067-C-T p.Arg443Trp missense ANKRD33B 2 76462 2.61568E-5 38231 0 6.31402E-4
5-10650069-G-A p.Arg443Arg synonymous ANKRD33B 1 76608 1.30535E-5 38304 0 NA
5-10650072-G-A p.Lys444Lys synonymous ANKRD33B 1 76786 1.30232E-5 38393 0 3.19836E-5
5-10650085-G-C p.Asp449His missense ANKRD33B 1 77214 1.2951E-5 38607 0 NA
5-10650090-C-T p.Ser450Ser synonymous ANKRD33B 447 77152 0.00579376 38576 10 0.012331
5-10650091-G-A p.Gly451Ser missense ANKRD33B 9 77224 1.16544E-4 38612 0 3.20164E-5
5-10650092-G-T p.Gly451Val missense ANKRD33B 1 77234 1.29477E-5 38617 0 NA
5-10650101-A-G p.Gln454Arg missense ANKRD33B 2 77482 2.58124E-5 38741 0 NA
5-10650103-A-C p.Ile455Leu missense ANKRD33B 15 77478 1.93603E-4 38739 0 0.00689223
5-10650108-C-T p.Pro456Pro synonymous ANKRD33B 1 77548 1.28952E-5 38774 0 3.19857E-5
5-10650115-C-A p.Arg459Arg synonymous ANKRD33B 20 77554 2.57885E-4 38777 0 0.00302115
5-10650116-G-A p.Arg459Gln missense ANKRD33B 2 77586 2.57778E-5 38793 0 7.19859E-5
5-10650119-A-T p.Tyr460Phe missense ANKRD33B 1 77560 1.28932E-5 38780 0 NA
5-10650136-G-A p.Glu466Lys missense ANKRD33B 6 77666 7.72539E-5 38833 0 9.58773E-5
5-10650150-A-G p.Ala470Ala synonymous ANKRD33B 23952 76694 0.312306 38347 3896 0.331177
5-10650154-G-A p.Glu472Lys missense ANKRD33B 2 77546 2.57911E-5 38773 0 NA
5-10650156-G-C p.Glu472Asp missense ANKRD33B 1 77496 1.29039E-5 38748 0 NA
5-10650161-A-C p.Glu474Ala missense ANKRD33B 3 77368 3.87757E-5 38684 0 6.38529E-5
5-10650161-A-G p.Glu474Gly missense ANKRD33B 2 77368 2.58505E-5 38684 0 7.30268E-6
5-10650165-G-C p.Lys475Asn missense ANKRD33B 1 77362 1.29262E-5 38681 0 NA
5-10650170-G-A p.Arg477His missense ANKRD33B 1 77078 1.29739E-5 38539 0 7.34355E-6
5-10650183-G-T p.Ala481Ala synonymous ANKRD33B 1 76342 1.30989E-5 38171 0 7.41697E-6
5-10650190-G-A p.Glu484Lys missense ANKRD33B 1 76042 1.31506E-5 38021 0 NA
5-10650191-A-G p.Glu484Gly missense ANKRD33B 1 75982 1.3161E-5 37991 0 NA
5-10650194-G-A p.Arg485Lys missense ANKRD33B 1 75710 1.32083E-5 37855 0 NA
5-10650197-G-A p.Arg486His missense ANKRD33B 3 75336 3.98216E-5 37668 0 0.00143885
5-10650199-A-G p.Thr487Ala missense ANKRD33B 3 75208 3.98894E-5 37604 0 7.56498E-6
5-10650199-A-T p.Thr487Ser missense ANKRD33B 1 75208 1.32965E-5 37604 0 NA
5-10650203-C-G p.Ala488Gly missense ANKRD33B 1 74748 1.33783E-5 37374 0 NA
5-10650204-G-C p.Ala488Ala synonymous ANKRD33B 1 74678 1.33908E-5 37339 0 NA
5-10650205-C-T p.Pro489Ser missense ANKRD33B 1 74694 1.3388E-5 37347 0 3.19387E-5
5-10650216-G-A p.Lys492Lys synonymous ANKRD33B 1 73802 1.35498E-5 36901 0 3.55556E-4
5-10650218-G-A p.Arg493Lys missense ANKRD33B 11 73552 1.49554E-4 36776 0 8.27116E-5
5-10650219-G-A p.Arg493Arg synonymous ANKRD33B 1 73300 1.36426E-5 36650 0 NA
5-10650306-C-T c.*81C>T splice_region ANKRD33B 1 51400 1.94553E-5 25700 0 3.18898E-5
5-10650307-G-A c.*82G>A splice_region ANKRD33B 15 50798 2.95287E-4 25399 0 5.10237E-4