Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-21181206-C-T p.Gly264Asp missense ANKRD29 1 83214 1.20172E-5 41607 0 8.24457E-6
18-21181207-C-A p.Gly264Cys missense ANKRD29 1 83220 1.20163E-5 41610 0 NA
18-21181227-C-T p.Arg257His missense ANKRD29 5 83222 6.00803E-5 41611 0 1.91131E-4
18-21181228-G-A p.Arg257Cys missense ANKRD29 1 83240 1.20135E-5 41620 0 3.18532E-5
18-21181232-T-C p.Ile255Met missense ANKRD29 9 83242 1.08118E-4 41621 0 3.18492E-5
18-21181236-C-T p.Arg254His missense ANKRD29 296 83196 0.00355786 41598 3 0.0302115
18-21181257-G-A p.Ala247Val missense ANKRD29 3 83164 3.60733E-5 41582 0 9.56694E-5
18-21181258-C-T p.Ala247Thr missense ANKRD29 1 83156 1.20256E-5 41578 0 8.24756E-6
18-21181260-G-A p.Pro246Leu missense ANKRD29 6 83144 7.2164E-5 41572 0 9.56084E-5
18-21181264-G-T p.Leu245Ile missense ANKRD29 1 83170 1.20236E-5 41585 0 8.25069E-6
18-21181280-G-C c.724-7C>G splice_region ANKRD29 1 83086 1.20357E-5 41543 0 NA
18-21192050-G-T c.360+6C>A splice_region ANKRD29 1 83214 1.20172E-5 41607 0 NA
18-21192051-G-C c.360+5C>G splice_region ANKRD29 1 83212 1.20175E-5 41606 0 NA
18-21192060-T-C p.Asn119Ser missense ANKRD29 3 83242 3.60395E-5 41621 0 NA
18-21192064-T-C p.Arg118Gly missense ANKRD29 1 83250 1.2012E-5 41625 0 3.98013E-6
18-21192069-G-C p.Ser116Cys missense ANKRD29 1 83268 1.20094E-5 41634 0 3.3279E-5
18-21192087-T-G p.Glu110Ala missense ANKRD29 2 83274 2.40171E-5 41637 0 4.156E-5
18-21192092-G-C p.Leu108Leu synonymous ANKRD29 1 83264 1.201E-5 41632 0 3.32745E-5
18-21192096-A-G p.Leu107Pro missense ANKRD29 1 83264 1.201E-5 41632 0 NA
18-21192098-C-T p.Ala106Ala synonymous ANKRD29 1 83258 1.20109E-5 41629 0 1.66633E-5
18-21192099-G-A p.Ala106Val missense ANKRD29 3 83256 3.60334E-5 41628 0 1.66672E-5
18-21192106-T-A p.Thr104Ser missense ANKRD29 1 83254 1.20114E-5 41627 0 NA
18-21192109-T-C p.Lys103Glu missense ANKRD29 1 83256 1.20111E-5 41628 0 NA
18-21192113-GT-G p.Asn101fs frameshift ANKRD29 1 83250 1.2012E-5 41625 0 NA
18-21192114-T-C p.Asn101Ser missense ANKRD29 9 83248 1.08111E-4 41624 0 5.03525E-4
18-21192118-C-A p.Gly100* stop_gained ANKRD29 2 83250 2.4024E-5 41625 1 NA
18-21192118-C-T p.Gly100Arg missense ANKRD29 3 83250 3.6036E-5 41625 0 3.18552E-5
18-21192131-T-TG p.Ala96fs frameshift ANKRD29 10 83230 1.20149E-4 41615 0 6.36943E-5
18-21192134-A-G p.His94His synonymous ANKRD29 1 83210 1.20178E-5 41605 0 NA
18-21192141-G-A p.Ala92Val missense ANKRD29 2 83192 2.40408E-5 41596 0 3.18431E-5
18-21192144-G-A p.Ser91Leu missense ANKRD29 1 83182 1.20218E-5 41591 0 NA
18-21192153-T-C p.Asn88Ser missense+splice_region ANKRD29 5 83128 6.01482E-5 41564 0 5.22357E-4
18-21197693-T-A c.723+3A>T splice_region ANKRD29 2 83004 2.40952E-5 41502 0 3.1841E-5
18-21197699-C-T p.Leu240Leu synonymous ANKRD29 1 83080 1.20366E-5 41540 0 3.98061E-6
18-21197710-G-C p.Leu237Val missense ANKRD29 3 83136 3.60855E-5 41568 0 1.98981E-5
18-21197726-A-C p.Leu231Leu synonymous ANKRD29 1 83162 1.20247E-5 41581 0 NA
18-21197733-T-C p.Glu229Gly missense ANKRD29 31 83172 3.72722E-4 41586 0 0.0020141
18-21197734-C-T p.Glu229Lys missense ANKRD29 4 83172 4.80931E-5 41586 0 1.19367E-5
18-21197745-T-G p.Asp225Ala missense ANKRD29 3 83172 3.60698E-5 41586 0 6.3678E-5
18-21197753-C-T p.Gly222Gly synonymous ANKRD29 1 83178 1.20224E-5 41589 0 NA
18-21197776-A-T p.Leu215Ile missense ANKRD29 38 83106 4.57247E-4 41553 1 5.03525E-4
18-21197777-T-C p.Ala214Ala synonymous ANKRD29 2 83108 2.40651E-5 41554 0 3.18451E-5
18-21197790-T-C p.Asp210Gly missense+splice_region ANKRD29 1 83040 1.20424E-5 41520 0 3.1841E-5
18-21197799-G-A c.628-8C>T splice_region ANKRD29 1 82956 1.20546E-5 41478 0 NA
18-21199488-C-A c.627+7G>T splice_region ANKRD29 2 49818 4.01461E-5 24909 0 NA
18-21199495-G-T p.Asn209Lys missense+splice_region ANKRD29 1 51010 1.9604E-5 25505 0 NA
18-21199496-TTCCGCGCAGCGTCGCGGTCGGC-T p.Ala202fs frameshift ANKRD29 2 51190 3.90701E-5 25595 0 9.44822E-6
18-21199513-G-C p.Asp203Glu missense ANKRD29 1 53316 1.87561E-5 26658 0 5.05051E-4
18-21199516-G-A p.Ala202Ala synonymous ANKRD29 1 53586 1.86616E-5 26793 0 6.37592E-5
18-21199524-G-A p.Arg200Cys missense ANKRD29 1 54770 1.82582E-5 27385 0 NA
18-21199541-A-C p.Val194Gly missense ANKRD29 1 56360 1.77431E-5 28180 0 NA
18-21199549-G-T p.Ser191Arg missense ANKRD29 1 56462 1.7711E-5 28231 0 4.49047E-6
18-21199554-G-A p.His190Tyr missense ANKRD29 1 56700 1.76367E-5 28350 0 NA
18-21199560-T-C p.Met188Val missense ANKRD29 3 56358 5.32311E-5 28179 0 1.11652E-5
18-21199586-G-A p.Thr179Ile missense ANKRD29 1 53602 1.8656E-5 26801 0 1.01327E-5
18-21199591-G-T p.Asp177Glu missense+splice_region ANKRD29 1 52602 1.90107E-5 26301 0 NA
18-21199592-T-C p.Asp177Gly missense+splice_region ANKRD29 1 52432 1.90723E-5 26216 0 5.4417E-6
18-21209810-A-G c.528+7T>C splice_region ANKRD29 1 82744 1.20855E-5 41372 0 NA
18-21209820-C-T n.2003+1G>A splice_donor ANKRD29 5 82938 6.0286E-5 41469 0 5.5861E-5
18-21209822-T-A p.Arg175Trp missense ANKRD29 1 82982 1.20508E-5 41491 0 1.19641E-5
18-21209824-G-C p.Pro174Arg missense ANKRD29 1 83000 1.20482E-5 41500 0 3.98839E-6
18-21209833-A-T p.Val171Asp missense ANKRD29 1 83126 1.20299E-5 41563 0 NA
18-21209845-G-T p.Ser167* stop_gained ANKRD29 1 83200 1.20192E-5 41600 0 NA
18-21209845-G-A p.Ser167Leu missense ANKRD29 1 83200 1.20192E-5 41600 0 1.69799E-5
18-21209851-A-G p.Leu165Pro missense ANKRD29 1 83232 1.20146E-5 41616 0 3.97966E-6
18-21209855-G-A p.Leu164Leu synonymous ANKRD29 1 83234 1.20143E-5 41617 0 NA
18-21209860-C-T p.Arg162Gln missense ANKRD29 2 83250 2.4024E-5 41625 0 5.88136E-5
18-21209861-G-A p.Arg162* stop_gained ANKRD29 2 83250 2.4024E-5 41625 0 2.51864E-5
18-21209870-C-A p.Asp159Tyr missense ANKRD29 4 83266 4.80388E-5 41633 0 3.97924E-6
18-21209872-A-G p.Leu158Ser missense ANKRD29 1 83268 1.20094E-5 41634 0 NA
18-21209881-C-T p.Gly155Asp missense ANKRD29 3 83272 3.60265E-5 41636 0 1.19374E-5
18-21209888-C-T p.Ala153Thr missense ANKRD29 1 83264 1.201E-5 41632 0 1.19391E-5
18-21209895-G-A p.Phe150Phe synonymous ANKRD29 40 83234 4.80573E-4 41617 0 0.00267574
18-21209901-G-A p.Ala148Ala synonymous ANKRD29 1 83210 1.20178E-5 41605 0 3.98191E-6
18-21209911-C-T p.Gly145Glu missense ANKRD29 1 83156 1.20256E-5 41578 0 NA
18-21209918-G-C c.430-3C>G splice_region ANKRD29 2 83092 2.40697E-5 41546 0 NA
18-21209920-G-C c.430-5C>G splice_region ANKRD29 1 83074 1.20375E-5 41537 0 NA
18-21214041-C-A p.Gly135* stop_gained ANKRD29 1 83324 1.20013E-5 41662 0 NA
18-21214042-G-A p.His134His synonymous ANKRD29 2 83330 2.4001E-5 41665 0 6.37064E-5
18-21214055-G-T p.Thr130Asn missense ANKRD29 1 83336 1.19996E-5 41668 0 NA
18-21214076-C-G p.Gly123Ala missense ANKRD29 1 83304 1.20042E-5 41652 0 NA
18-21214078-G-A p.Tyr122Tyr synonymous ANKRD29 4 83300 4.80192E-5 41650 0 2.47272E-5
18-21214081-C-A p.Gln121His missense ANKRD29 3 83302 3.60135E-5 41651 0 0.00100705
18-21214099-G-C p.Ala115Ala synonymous ANKRD29 1 83244 1.20129E-5 41622 0 NA
18-21214101-C-T p.Ala115Thr missense ANKRD29 1 83228 1.20152E-5 41614 0 3.97823E-6
18-21214102-G-A p.Thr114Thr synonymous ANKRD29 970 83214 0.0116567 41607 17 0.0227157
18-21214110-C-T p.Gly112Arg missense ANKRD29 14 83202 1.68265E-4 41601 0 9.55414E-5
18-21214111-G-A p.Asp111Asp splice_region+synonymous ANKRD29 7 83190 8.41447E-5 41595 0 4.14195E-5
18-21218819-C-A p.Arg108Ser missense ANKRD29 2 83184 2.40431E-5 41592 0 NA
18-21218829-G-A p.Thr105Ile missense ANKRD29 1 83212 1.20175E-5 41606 0 NA
18-21218836-C-T p.Ala103Thr missense ANKRD29 2 83242 2.40263E-5 41621 0 1.73462E-4
18-21218838-C-G p.Gly102Ala missense ANKRD29 1 83248 1.20123E-5 41624 0 7.43151E-5
18-21218839-C-G p.Gly102Arg missense ANKRD29 2 83240 2.40269E-5 41620 0 NA
18-21218858-CACG-C p.Val95del disruptive_inframe_deletion ANKRD29 1 83288 1.20065E-5 41644 0 NA
18-21218860-C-T p.Val95Met missense ANKRD29 4 83280 4.80307E-5 41640 0 2.79517E-5
18-21218861-G-A p.Val94Val synonymous ANKRD29 2 83286 2.40136E-5 41643 0 3.99249E-6
18-21218864-A-G p.Asp93Asp synonymous ANKRD29 1 83286 1.20068E-5 41643 0 NA
18-21218867-A-C p.Asn92Lys missense ANKRD29 4 83276 4.8033E-5 41638 0 3.5925E-5
18-21218870-A-G p.His91His synonymous ANKRD29 36 83254 4.32412E-4 41627 0 2.99418E-4
18-21218871-T-C p.His91Arg missense ANKRD29 1 83258 1.20109E-5 41629 0 3.99326E-6
18-21218873-G-A p.Gly90Gly synonymous ANKRD29 2 83258 2.40217E-5 41629 0 6.3674E-5
18-21218882-G-C p.Ala87Ala synonymous ANKRD29 1 83236 1.2014E-5 41618 0 3.30011E-5
18-21218884-C-T p.Ala87Thr missense ANKRD29 1 83216 1.20169E-5 41608 0 2.80298E-5
18-21218884-C-A p.Ala87Ser missense ANKRD29 1 83216 1.20169E-5 41608 0 NA
18-21218885-G-A p.Ala86Ala synonymous ANKRD29 1 83214 1.20172E-5 41607 0 4.00458E-6
18-21218888-A-G p.Phe85Phe synonymous ANKRD29 1 83212 1.20175E-5 41606 0 NA
18-21218897-G-A p.Ala82Ala synonymous ANKRD29 2 83186 2.40425E-5 41593 0 1.91083E-4
18-21218919-A-G c.232-8T>C splice_region ANKRD29 2 82924 2.41185E-5 41462 0 3.18471E-5
18-21226147-A-C c.231+6T>G splice_region ANKRD29 77 82672 9.31392E-4 41336 1 7.76781E-4
18-21226147-A-G c.231+6T>C splice_region ANKRD29 1 82672 1.2096E-5 41336 0 NA
18-21226149-C-T c.231+4G>A splice_region ANKRD29 1 82698 1.20922E-5 41349 0 3.30295E-5
18-21226152-C-A c.231+1G>T splice_donor ANKRD29 3 82788 3.62371E-5 41394 0 8.25437E-6
18-21226157-C-G p.Arg76Thr missense ANKRD29 1 82862 1.20683E-5 41431 0 3.98146E-6
18-21226167-T-G p.Asn73His missense ANKRD29 2 82982 2.41016E-5 41491 0 NA
18-21226170-T-G p.Ile72Leu missense ANKRD29 1 83012 1.20465E-5 41506 0 3.97924E-6
18-21226197-TCACA-T p.Cys61fs frameshift ANKRD29 2 83108 2.40651E-5 41554 0 3.9782E-6
18-21226210-G-A p.His58His synonymous ANKRD29 1 83086 1.20357E-5 41543 0 1.98942E-5
18-21226218-C-A p.Ala56Ser missense ANKRD29 1 83048 1.20412E-5 41524 0 3.97985E-6
18-21226218-C-T p.Ala56Thr missense ANKRD29 1 83048 1.20412E-5 41524 0 1.27397E-4
18-21226219-G-A p.Tyr55Tyr synonymous ANKRD29 2 83056 2.40801E-5 41528 0 7.95938E-6
18-21226220-T-C p.Tyr55Cys missense ANKRD29 4 83054 4.81614E-5 41527 0 8.24171E-6
18-21226225-A-G p.Ala53Ala synonymous ANKRD29 2 83040 2.40848E-5 41520 0 3.1841E-5
18-21226231-C-A p.Met51Ile missense ANKRD29 1 83036 1.2043E-5 41518 0 3.9813E-6
18-21226239-G-T p.Leu49Ile missense ANKRD29 1 82964 1.20534E-5 41482 0 NA
18-21226240-T-C p.Thr48Thr synonymous ANKRD29 2 82944 2.41127E-5 41472 0 NA
18-21226246-G-GAAGAGGTTTGGTTA p.Thr47fs frameshift ANKRD29 1 82908 1.20616E-5 41454 0 NA
18-21226252-C-A c.133-1G>T splice_acceptor ANKRD29 1 82820 1.20744E-5 41410 0 3.18451E-5
18-21228892-T-C p.Glu96Gly missense ANKRD29 4 44090 9.07235E-5 22045 0 9.55171E-5
18-21228903-C-T p.Arg92Arg synonymous ANKRD29 3 51976 5.77189E-5 25988 0 NA
18-21228915-T-C p.Leu88Leu synonymous ANKRD29 1 58092 1.72141E-5 29046 0 NA
18-21228933-C-A p.Leu82Phe missense ANKRD29 1 66528 1.50313E-5 33264 0 4.80862E-5
18-21228939-C-T p.Met80Ile missense ANKRD29 1 69092 1.44735E-5 34546 0 1.75673E-4
18-21228943-A-C p.Phe79Cys missense ANKRD29 6 70398 8.52297E-5 35199 0 2.34687E-4
18-21228945-A-C p.Phe78Leu missense ANKRD29 68 71128 9.56023E-4 35564 0 0.00382367
18-21228966-G-A p.Pro71Pro synonymous ANKRD29 91 76450 0.00119032 38225 0 0.00248376
18-21228984-G-A p.His65His synonymous ANKRD29 1 78844 1.26833E-5 39422 0 3.18471E-5
18-21228995-C-T p.Ala62Thr missense ANKRD29 666 79646 0.008362 39823 0 0.0099019
18-21229011-GT-G p.His56fs frameshift ANKRD29 8 80524 9.93493E-5 40262 0 8.81539E-6
18-21229027-C-A p.Cys51Phe missense ANKRD29 1 81134 1.23253E-5 40567 0 3.64048E-5
18-21229034-C-T p.Gly49Ser missense ANKRD29 9 81306 1.10693E-4 40653 0 1.53121E-4
18-21229035-G-A p.Phe48Phe synonymous ANKRD29 1 81352 1.22923E-5 40676 0 3.22305E-5
18-21229042-C-T p.Arg46Gln missense ANKRD29 3 81540 3.67918E-5 40770 0 3.18471E-5
18-21229043-G-A p.Arg46Trp missense ANKRD29 14 81556 1.71661E-4 40778 0 1.91107E-4
18-21229043-G-C p.Arg46Gly missense ANKRD29 1 81556 1.22615E-5 40778 0 NA
18-21229046-C-T c.132+1G>A splice_donor ANKRD29 3 81650 3.67422E-5 40825 0 3.18512E-5
18-21229053-T-G p.Arg42Ser missense ANKRD29 2 81830 2.44409E-5 40915 0 2.50576E-5
18-21229066-T-A p.Asp38Val missense ANKRD29 2 81958 2.44027E-5 40979 0 1.27364E-4
18-21229072-C-T p.Arg36Gln missense ANKRD29 1 82106 1.21794E-5 41053 0 2.7876E-5
18-21229073-G-A p.Arg36Trp missense ANKRD29 6 82080 7.30994E-5 41040 0 6.77059E-5
18-21229075-C-T p.Gly35Asp missense ANKRD29 1 82140 1.21743E-5 41070 0 NA
18-21229077-G-A p.Ser34Ser synonymous ANKRD29 8 82158 9.73734E-5 41079 0 3.50229E-4
18-21229101-C-T p.Ala26Ala synonymous ANKRD29 869 82306 0.0105582 41153 8 0.00812319
18-21229102-G-A p.Ala26Val missense ANKRD29 9 82330 1.09316E-4 41165 0 1.49452E-4
18-21229104-C-A p.Leu25Leu synonymous ANKRD29 1 82332 1.21459E-5 41166 0 1.59199E-5
18-21229127-A-G p.Trp18Arg missense ANKRD29 1 82300 1.21507E-5 41150 0 6.3674E-5
18-21229131-T-C p.Ala16Ala synonymous ANKRD29 4 82288 4.86098E-5 41144 0 3.1835E-5
18-21229133-C-T p.Ala16Thr missense ANKRD29 2 82270 2.43102E-5 41135 0 NA
18-21229138-T-C p.Asn14Ser missense ANKRD29 6 82250 7.29483E-5 41125 0 5.30241E-5
18-21229149-A-C p.Thr10Thr synonymous ANKRD29 1 82138 1.21746E-5 41069 0 NA
18-21229152-T-TTGAGGTGC p.Thr10fs frameshift ANKRD29 2 82072 2.43688E-5 41036 1 NA
18-21229465-C-T c.21+1G>A splice_donor ANKRD29 1 53060 1.88466E-5 26530 0 NA
18-21229481-C-T p.Glu2Glu synonymous ANKRD29 1 52580 1.90186E-5 26290 0 7.29405E-6
18-21242678-A-G p.Phe6Ser missense ANKRD29 1 40092 2.49426E-5 20046 0 NA
18-21242685-T-C p.Met4Val missense ANKRD29 1 40416 2.47427E-5 20208 0 NA
18-21242687-C-T p.Arg3Lys missense ANKRD29 3 40664 7.37753E-5 20332 0 8.66852E-5
18-21242688-T-G p.Arg3Arg synonymous ANKRD29 3 40676 7.37536E-5 20338 0 3.29012E-5
18-21242693-A-T p.Met1? start_lost ANKRD29 2 40670 4.91763E-5 20335 0 1.1517E-5
18-21242720-G-A c.-26C>T 5_prime_UTR_premature_start_codon_gain ANKRD29 18 41156 4.3736E-4 20578 0 0.0015528
18-21242770-C-A c.-76G>T 5_prime_UTR_premature_start_codon_gain ANKRD29 1 36860 2.71297E-5 18430 0 3.4153E-5
18-21242842-C-A c.-148G>T 5_prime_UTR_premature_start_codon_gain ANKRD29 2 18224 1.09745E-4 9112 0 3.58551E-5