Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-101522810-T-C p.Ile232Val missense ANKRD46 1 76588 1.30569E-5 38294 0 NA
8-101522822-G-A p.Arg228* stop_gained ANKRD46 2 76634 2.60981E-5 38317 0 7.60456E-5
8-101522855-TCA-T p.Leu216fs frameshift ANKRD46 3 76422 3.92557E-5 38211 0 2.2105E-5
8-101522859-T-G p.Thr215Thr synonymous ANKRD46 1 76368 1.30945E-5 38184 0 7.36323E-6
8-101522865-T-C p.Arg213Arg splice_region+synonymous ANKRD46 2 76298 2.6213E-5 38149 0 7.36106E-6
8-101533005-G-C c.*1778C>G splice_region ANKRD46 1 26370 3.79219E-5 13185 0 NA
8-101534743-G-A c.*40C>T splice_region ANKRD46 1 82154 1.21723E-5 41077 0 NA
8-101534797-C-T p.Glu225Lys missense ANKRD46 11 83224 1.32173E-4 41612 0 3.98007E-6
8-101534801-C-A p.Gln223His missense ANKRD46 1 83262 1.20103E-5 41631 0 NA
8-101534812-C-T p.Val220Met missense ANKRD46 9 83282 1.08067E-4 41641 0 6.37308E-5
8-101534813-G-A p.Phe219Phe synonymous ANKRD46 2 83292 2.40119E-5 41646 0 3.18817E-5
8-101534813-G-T p.Phe219Leu missense ANKRD46 1 83292 1.2006E-5 41646 0 NA
8-101534825-C-T p.Gly215Gly synonymous ANKRD46 3 83324 3.6004E-5 41662 0 NA
8-101534828-A-G c.636+6T>C splice_region ANKRD46 5 83322 6.00082E-5 41661 0 9.56633E-5
8-101534869-C-T p.Val201Ile missense ANKRD46 1 83356 1.19967E-5 41678 0 6.37471E-5
8-101534879-C-T p.Leu197Leu synonymous ANKRD46 3 83358 3.59893E-5 41679 0 8.24362E-6
8-101534906-C-T p.Glu188Glu synonymous ANKRD46 1 83342 1.19988E-5 41671 0 NA
8-101534924-C-T p.Thr182Thr synonymous ANKRD46 18 83350 2.15957E-4 41675 0 1.48402E-4
8-101534931-C-T p.Arg180Gln missense ANKRD46 1 83346 1.19982E-5 41673 0 1.98897E-5
8-101534936-G-A p.Ser178Ser synonymous ANKRD46 1 83344 1.19985E-5 41672 0 7.95551E-6
8-101534971-G-C p.Pro167Ala missense ANKRD46 3 83316 3.60075E-5 41658 0 8.25928E-6
8-101534986-G-A p.His162Tyr missense ANKRD46 140 83254 0.0016816 41627 2 0.00351124
8-101534987-G-C p.Ser161Arg missense ANKRD46 1 83210 1.20178E-5 41605 0 NA
8-101535004-GGAA-G c.471-8_471-6delTTC splice_region ANKRD46 1 54472 1.83581E-5 27236 0 3.99131E-6
8-101540078-A-G p.Ser155Ser synonymous ANKRD46 2 83156 2.40512E-5 41578 0 8.24511E-6
8-101540098-T-C p.Thr149Ala missense ANKRD46 1 83284 1.20071E-5 41642 0 NA
8-101540102-C-G p.Leu147Leu synonymous ANKRD46 1 83298 1.20051E-5 41649 0 5.57533E-5
8-101540108-C-T p.Ser145Ser synonymous ANKRD46 26 83306 3.12102E-4 41653 0 3.19816E-4
8-101540109-G-A p.Ser145Leu missense ANKRD46 6 83304 7.20254E-5 41652 0 8.23778E-5
8-101540111-G-A p.His144His synonymous ANKRD46 1 83306 1.20039E-5 41653 0 NA
8-101540127-A-T p.Phe139Tyr missense ANKRD46 1 83332 1.20002E-5 41666 0 8.23778E-6
8-101540153-A-G p.Ser130Ser synonymous ANKRD46 4310 83222 0.0517892 41611 145 0.0640737
8-101540155-A-T p.Ser130Thr missense ANKRD46 1 83322 1.20016E-5 41661 0 NA
8-101540166-C-T p.Arg126Gln missense ANKRD46 5 83280 6.00384E-5 41640 0 3.29495E-5
8-101540176-C-T p.Asp123Asn missense ANKRD46 1 83262 1.20103E-5 41631 0 3.26712E-5
8-101540201-C-G p.Leu114Leu synonymous ANKRD46 1 82900 1.20627E-5 41450 0 3.57961E-5
8-101540213-G-C p.Thr110Thr synonymous ANKRD46 3 82392 3.64113E-5 41196 0 1.14881E-4
8-101540214-G-T p.Thr110Asn missense ANKRD46 2 82304 2.43002E-5 41152 0 NA
8-101540229-T-C p.Asn105Ser missense+splice_region ANKRD46 10 78890 1.26759E-4 39445 0 1.64042E-4
8-101540231-GCT-G c.312-2_312-1delAG splice_acceptor ANKRD46 1 77162 1.29597E-5 38581 0 NA
8-101540231-G-A p.Cys104Cys splice_region+synonymous ANKRD46 1 77166 1.29591E-5 38583 0 2.34929E-5
8-101540232-C-CT c.312-2_312-1insA splice_acceptor ANKRD46 92 76916 0.00119611 38458 6 0.0135325
8-101540233-T-TAAA c.312-3_312-2insTTT splice_region ANKRD46 144 75862 0.00189818 37931 7 0.00380384
8-101540233-T-TAA c.312-3_312-2insTT splice_region ANKRD46 206 75628 0.00272386 37814 11 0.0119256
8-101540233-T-TA c.312-3_312-2insT splice_region ANKRD46 357 74936 0.00476407 37468 30 0.0471882
8-101540233-T-TTA c.312-3_312-2insTA splice_region ANKRD46 19 75950 2.50165E-4 37975 0 NA
8-101540233-TAA-T c.312-4_312-3delTT splice_region ANKRD46 234 75580 0.00309606 37790 1 0.0623522
8-101540233-TA-T c.312-3delT splice_region ANKRD46 1893 71172 0.0265975 35586 19 0.157808
8-101540233-T-TTAA c.312-3_312-2insTTA splice_region ANKRD46 14 75948 1.84337E-4 37974 1 NA
8-101540233-T-TAAAAA c.312-3_312-2insTTTTT splice_region ANKRD46 5 75950 6.58328E-5 37975 0 NA
8-101540233-T-TTAAAA c.312-3_312-2insTTTTA splice_region ANKRD46 1 75952 1.31662E-5 37976 0 NA
8-101540233-T-TTAAA c.312-3_312-2insTTTA splice_region ANKRD46 3 75952 3.94986E-5 37976 0 NA
8-101540233-T-TAAAA c.312-3_312-2insTTTT splice_region ANKRD46 22 75938 2.8971E-4 37969 2 NA
8-101540233-TAAA-T c.312-5_312-3delTTT splice_region ANKRD46 27 75868 3.55881E-4 37934 0 0.0194819
8-101540233-TAAAAA-T c.312-7_312-3delTTTTT splice_region ANKRD46 1 75948 1.31669E-5 37974 0 NA
8-101540233-T-A c.312-2A>T splice_acceptor ANKRD46 3 75902 3.95246E-5 37951 0 0.00677726
8-101540233-T-TAAAAAA c.312-3_312-2insTTTTTT splice_region ANKRD46 1 75948 1.31669E-5 37974 0 NA
8-101540233-T-TAAAAAAAAAA c.312-3_312-2insTTTTTTTTTT splice_region ANKRD46 1 75950 1.31666E-5 37975 0 NA
8-101540233-TAAAA-T c.312-6_312-3delTTTT splice_region ANKRD46 4 75938 5.26745E-5 37969 0 0.00318345
8-101540233-T-TAAAAAAAAAAAAA c.312-3_312-2insTTTTTTTTTTTTT splice_region ANKRD46 1 75952 1.31662E-5 37976 0 NA
8-101540233-T-TAAAAAAAAAAA c.312-3_312-2insTTTTTTTTTTT splice_region ANKRD46 4 75952 5.26648E-5 37976 0 NA
8-101540233-T-TAAAAAAAAA c.312-3_312-2insTTTTTTTTT splice_region ANKRD46 1 75952 1.31662E-5 37976 0 NA
8-101540234-A-T c.312-3T>A splice_region ANKRD46 440 78340 0.00561654 39170 6 0.0346427
8-101540235-A-T c.312-4T>A splice_region ANKRD46 65 80440 8.08056E-4 40220 0 0.00284951
8-101540236-A-T c.312-5T>A splice_region ANKRD46 14 80998 1.72844E-4 40499 0 4.48772E-4
8-101540237-A-T c.312-6T>A splice_region ANKRD46 2 81080 2.4667E-5 40540 0 1.32563E-4
8-101540238-A-T c.312-7T>A splice_region ANKRD46 1 80958 1.23521E-5 40479 0 3.26708E-5
8-101541746-C-T c.311+5G>A splice_region ANKRD46 26 82306 3.15894E-4 41153 0 3.50274E-4
8-101541765-G-T p.Leu99Leu synonymous ANKRD46 1 82438 1.21303E-5 41219 0 NA
8-101541772-T-C p.Asn97Ser missense ANKRD46 3 82544 3.63443E-5 41272 0 1.32212E-4
8-101541774-G-A p.Ser96Ser synonymous ANKRD46 5 82558 6.05635E-5 41279 0 7.99584E-5
8-101541801-A-G p.His87His synonymous ANKRD46 1 82782 1.20799E-5 41391 0 3.29609E-5
8-101541810-G-A p.Leu84Leu synonymous ANKRD46 1 82804 1.20767E-5 41402 0 1.59253E-5
8-101541829-C-T p.Gly78Glu missense ANKRD46 1 83004 1.20476E-5 41502 0 1.19397E-5
8-101541855-G-A p.Ala69Ala synonymous ANKRD46 2 83102 2.40668E-5 41551 0 3.1839E-5
8-101541861-G-A p.Phe67Phe synonymous ANKRD46 14 83142 1.68387E-4 41571 1 0.0020141
8-101541875-A-C p.Leu63Val missense ANKRD46 2 83196 2.40396E-5 41598 0 NA
8-101541882-G-A p.Ile60Ile synonymous ANKRD46 2 83196 2.40396E-5 41598 0 3.97848E-6
8-101541883-A-C p.Ile60Ser missense ANKRD46 2 83196 2.40396E-5 41598 0 8.23723E-6
8-101541885-G-A p.Asp59Asp synonymous ANKRD46 1 83202 1.20189E-5 41601 0 NA
8-101541891-A-G p.Asn57Asn synonymous ANKRD46 4 83206 4.80735E-5 41603 0 NA
8-101541894-C-T p.Gly56Gly synonymous ANKRD46 1 83210 1.20178E-5 41605 0 NA
8-101541898-C-T p.Arg55Gln missense ANKRD46 1 83202 1.20189E-5 41601 0 NA
8-101541918-G-T p.Gly48Gly synonymous ANKRD46 1 83220 1.20163E-5 41610 0 1.64737E-5
8-101541940-C-T p.Arg41His missense ANKRD46 1 83192 1.20204E-5 41596 0 3.18431E-5
8-101541954-A-G p.Phe36Phe synonymous ANKRD46 1 83144 1.20273E-5 41572 0 NA
8-101541968-A-G p.Leu32Leu synonymous ANKRD46 1 83102 1.20334E-5 41551 0 NA
8-101541973-C-T p.Arg30Gln missense ANKRD46 7 83070 8.42663E-5 41535 0 6.36862E-5
8-101541974-G-T p.Arg30Arg synonymous ANKRD46 3 83064 3.61167E-5 41532 0 8.23995E-6
8-101541974-G-A p.Arg30Trp missense ANKRD46 1 83062 1.20392E-5 41531 0 8.23995E-6
8-101542001-T-C p.Ile21Val missense ANKRD46 1 82878 1.20659E-5 41439 0 3.1835E-5
8-101542013-G-T p.Leu17Met missense ANKRD46 2 82712 2.41803E-5 41356 0 1.65147E-5
8-101542022-C-T p.Val14Met missense ANKRD46 2 82550 2.42277E-5 41275 0 4.96278E-5
8-101542034-A-T p.Ser10Thr missense ANKRD46 5 82324 6.07356E-5 41162 0 7.97747E-6
8-101542036-G-A p.Ser9Phe missense ANKRD46 1 82270 1.21551E-5 41135 0 NA
8-101542056-C-T p.Ser2Ser synonymous ANKRD46 3 81702 3.67188E-5 40851 0 2.86041E-4
8-101542057-G-A p.Ser2Leu missense ANKRD46 3 81632 3.67503E-5 40816 0 5.88879E-5
8-101542086-C-T c.-25G>A 5_prime_UTR_premature_start_codon_gain ANKRD46 7 79742 8.77831E-5 39871 0 6.25E-4
8-101542086-C-CGCGTAA c.-26_-25insTTACGC splice_region ANKRD46 3 79742 3.76213E-5 39871 1 NA
8-101542087-G-A c.-26C>T splice_region ANKRD46 1 79480 1.25818E-5 39740 0 4.1597E-6
8-101542088-C-CGTAAGCCTTAAGATTAGATCTTTT c.-27-1_-27insAAAAGATCTAATCTTAAGGCTTAC splice_acceptor ANKRD46 1 79384 1.2597E-5 39692 0 NA
8-101542088-C-CGTAAGCCTTAAGATTAGATCTTTTCGTTCAGTGGTCACTCAGCAGTTTCT c.-27-1_-27insAGAAACTGCTGAGTGACCACTGAACGAAAAGATCTAATCTTAAGGCTTAC splice_acceptor ANKRD46 1 79384 1.2597E-5 39692 0 NA
8-101542088-C-T c.-27G>A splice_region ANKRD46 1 79382 1.25973E-5 39691 0 NA
8-101545541-T-TGCGACTCGAACGAGCAGCAGCGACAGCGGC c.-130-3_-130-2insGCCGCTGTCGCTGCTGCTCGTTCGAGTCGC splice_region ANKRD46 2 2948 6.78426E-4 1474 1 NA
8-101562755-C-CTTT n.1325_1327dupAAA splice_region ANKRD46 1 1366 7.32064E-4 683 0 0.0526229
8-101562755-C-CT n.1327dupA splice_region ANKRD46 77 1282 0.0600624 641 32 0.696864
8-101562755-C-CTT n.1326_1327dupAA splice_region ANKRD46 9 1368 0.00657895 684 3 0.0218783
8-101563798-C-A n.286-1G>T splice_acceptor ANKRD46 1 27258 3.66865E-5 13629 0 1.91119E-4
8-101563804-C-G n.286-7G>C splice_region ANKRD46 1 27580 3.62582E-5 13790 0 NA
8-101571968-G-A c.-160C>T 5_prime_UTR_premature_start_codon_gain ANKRD46 1 2900 3.44828E-4 1450 0 9.55475E-5