Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-53526330-C-T p.Ala292Ala synonymous AKTIP 6 81568 7.35583E-5 40784 0 3.30104E-5
16-53526342-CTCT-C p.Glu288del disruptive_inframe_deletion AKTIP 1 82100 1.21803E-5 41050 0 NA
16-53526342-C-CTCT p.Glu288dup disruptive_inframe_insertion AKTIP 1 82100 1.21803E-5 41050 0 3.18512E-5
16-53526365-C-T p.Val281Ile missense AKTIP 42 82818 5.07136E-4 41409 0 5.04541E-4
16-53526366-T-C p.Ser280Ser synonymous AKTIP 302 82844 0.00364541 41422 1 0.00837473
16-53526367-G-A p.Ser280Leu missense AKTIP 1 82896 1.20633E-5 41448 0 NA
16-53526372-A-C p.Pro278Pro synonymous AKTIP 3 82956 3.61638E-5 41478 0 3.1839E-5
16-53526377-T-C p.Lys277Glu missense AKTIP 14 83044 1.68585E-4 41522 0 1.23662E-4
16-53526384-T-C p.Ser274Ser synonymous AKTIP 1 83086 1.20357E-5 41543 0 NA
16-53526390-G-C p.Gly272Gly synonymous AKTIP 132 83100 0.00158845 41550 0 0.00159959
16-53526409-T-C p.Lys266Arg missense AKTIP 1 83168 1.20239E-5 41584 0 NA
16-53526419-G-T p.Gln263Lys missense AKTIP 2 83118 2.40622E-5 41559 0 1.65049E-5
16-53526424-T-C p.Glu261Gly missense AKTIP 1 83102 1.20334E-5 41551 0 NA
16-53526598-C-CACTT c.771+3_771+6dupAAGT splice_region AKTIP 24 82992 2.89185E-4 41496 0 1.59215E-4
16-53526599-A-G c.771+6T>C splice_region AKTIP 1 82992 1.20494E-5 41496 0 1.19415E-5
16-53526612-G-A p.Thr255Ile missense AKTIP 1 82952 1.20552E-5 41476 0 NA
16-53526616-G-T p.Leu254Met missense AKTIP 1 82936 1.20575E-5 41468 0 3.97962E-6
16-53526623-T-G p.Glu251Asp missense AKTIP 2 82896 2.41266E-5 41448 0 3.97959E-6
16-53526637-C-T p.Asp247Asn missense AKTIP 2 82834 2.41447E-5 41417 0 NA
16-53526641-T-C p.Val245Val synonymous AKTIP 2 82774 2.41622E-5 41387 0 0.00302115
16-53526646-A-T p.Ser244Thr missense AKTIP 1 82718 1.20893E-5 41359 0 NA
16-53526657-G-A p.Pro240Leu missense AKTIP 1 82564 1.21118E-5 41282 0 1.19536E-5
16-53526668-TAAGG-T c.711-7_711-4delCCTT splice_region AKTIP 1 82328 1.21465E-5 41164 0 1.67538E-5
16-53528042-C-CCA c.710+7_710+8insTG splice_region AKTIP 1 83144 1.20273E-5 41572 0 NA
16-53528042-C-A c.710+8G>T splice_region AKTIP 2 83144 2.40547E-5 41572 0 NA
16-53528054-T-C p.Ile236Val missense AKTIP 1 83234 1.20143E-5 41617 0 7.95456E-6
16-53528057-C-T p.Ala235Thr missense AKTIP 237 83236 0.00284733 41618 0 0.00264881
16-53528062-G-A p.Pro233Leu missense AKTIP 2 83250 2.4024E-5 41625 0 4.11991E-5
16-53528063-G-C p.Pro233Ala missense AKTIP 1 83246 1.20126E-5 41623 0 NA
16-53528079-T-C p.Gln227Gln synonymous AKTIP 2014 83248 0.0241928 41624 120 0.0474811
16-53528092-C-T p.Arg223His missense AKTIP 1 83302 1.20045E-5 41651 0 6.37024E-5
16-53528093-G-A p.Arg223Cys missense AKTIP 1 83290 1.20062E-5 41645 0 3.18431E-5
16-53528105-C-T p.Val219Met missense AKTIP 1 83296 1.20054E-5 41648 0 NA
16-53528112-A-T p.Ser216Arg missense AKTIP 1 83290 1.20062E-5 41645 0 NA
16-53528123-C-G p.Val213Leu missense AKTIP 1 83282 1.20074E-5 41641 0 NA
16-53528143-A-G p.Ile206Thr missense AKTIP 1 83254 1.20114E-5 41627 0 NA
16-53528154-A-C p.Tyr202* stop_gained AKTIP 1 83232 1.20146E-5 41616 0 NA
16-53528157-C-CAGTA c.603-1_603insTACT splice_acceptor AKTIP 1 83226 1.20155E-5 41613 0 NA
16-53528158-CTG-C c.603-3_603-2delCA splice_acceptor AKTIP 1 83224 1.20158E-5 41612 0 NA
16-53528159-T-TGCA c.603-3_603-2insTGC splice_region AKTIP 1 83226 1.20155E-5 41613 0 NA
16-53528254-A-C p.Val200Gly missense AKTIP 1 83282 1.20074E-5 41641 0 1.19359E-5
16-53528272-A-C p.Leu194Arg missense AKTIP 2 83294 2.40113E-5 41647 0 0.001875
16-53528272-A-AGG p.Leu194fs frameshift AKTIP 1 83294 1.20057E-5 41647 0 NA
16-53528272-A-AGGG p.Pro193dup conservative_inframe_insertion AKTIP 1 83294 1.20057E-5 41647 0 NA
16-53528284-G-C p.Thr190Arg missense AKTIP 1 83308 1.20036E-5 41654 0 7.41889E-5
16-53528340-A-G p.His171His synonymous AKTIP 1 83320 1.20019E-5 41660 0 NA
16-53528434-T-C p.Lys166Lys synonymous AKTIP 1 83342 1.19988E-5 41671 0 3.97735E-6
16-53528435-T-C p.Lys166Arg missense AKTIP 1 83340 1.1999E-5 41670 0 NA
16-53528454-C-T p.Val160Met missense AKTIP 1 83346 1.19982E-5 41673 0 6.3678E-5
16-53528461-C-CT p.Leu158fs frameshift AKTIP 1 83336 1.19996E-5 41668 0 NA
16-53528485-C-T p.Pro149Pro splice_region+synonymous AKTIP 1 83292 1.2006E-5 41646 0 6.25E-4
16-53528503-A-G p.Asp143Asp synonymous AKTIP 1 83250 1.2012E-5 41625 0 NA
16-53528506-G-A p.Phe142Phe synonymous AKTIP 5 83212 6.00875E-5 41606 0 1.7261E-5
16-53528516-C-T p.Arg139His missense+splice_region AKTIP 1 83142 1.20276E-5 41571 0 8.97602E-6
16-53528517-G-A p.Arg139Cys missense+splice_region AKTIP 2 83130 2.40587E-5 41565 0 6.36943E-5
16-53528524-T-A c.415-7A>T splice_region AKTIP 1 83102 1.20334E-5 41551 0 NA
16-53528763-G-A p.Cys173Cys synonymous AKTIP 4 49524 8.07689E-5 24762 0 3.18309E-5
16-53528767-G-A p.Ser172Phe missense AKTIP 1 49896 2.00417E-5 24948 0 NA
16-53528811-CAA-C p.Leu157fs frameshift AKTIP 1 55426 1.80421E-5 27713 0 NA
16-53528822-T-C p.Ile154Val missense AKTIP 23 58270 3.94714E-4 29135 0 9.28136E-4
16-53528831-G-A p.Arg151Trp missense AKTIP 4 61584 6.49519E-5 30792 0 6.25E-4
16-53528851-G-GAAGTCCCCCTGGACA p.Leu139_Thr143dup conservative_inframe_insertion AKTIP 6 68550 8.75274E-5 34275 0 1.27413E-4
16-53528855-TCCC-T p.Gly142del conservative_inframe_deletion AKTIP 1 69622 1.43633E-5 34811 0 NA
16-53528856-C-T p.Gly142Gly synonymous AKTIP 13 70000 1.85714E-4 35000 0 3.19285E-4
16-53528856-C-A p.Gly142Gly synonymous AKTIP 1 70000 1.42857E-5 35000 0 1.20385E-5
16-53528860-C-G p.Arg141Thr missense AKTIP 1 71268 1.40315E-5 35634 0 NA
16-53528864-A-C p.Ser140Ala missense AKTIP 7 72300 9.68188E-5 36150 0 2.76753E-4
16-53528868-C-T c.415-1G>A splice_acceptor AKTIP 1 73486 1.3608E-5 36743 0 3.18492E-5
16-53528873-G-C c.415-6C>G splice_region AKTIP 2 74820 2.67308E-5 37410 0 NA
16-53528874-G-A c.415-7C>T splice_region AKTIP 3 75004 3.99979E-5 37502 0 2.68199E-4
16-53528985-T-C p.Pro138Pro splice_region+synonymous AKTIP 1 83270 1.20091E-5 41635 0 NA
16-53529010-T-G p.Asp130Ala missense AKTIP 2 83316 2.4005E-5 41658 0 4.37421E-5
16-53529012-A-G p.Pro129Pro synonymous AKTIP 1 83326 1.20011E-5 41663 0 NA
16-53529038-C-T p.Val121Ile missense AKTIP 2 83340 2.39981E-5 41670 0 4.11848E-5
16-53529039-G-A p.Gly120Gly synonymous AKTIP 2 83344 2.39969E-5 41672 0 2.78374E-5
16-53529076-C-G p.Gly108Ala missense AKTIP 1 83336 1.19996E-5 41668 0 1.1938E-5
16-53529182-G-A p.Ser102Phe missense AKTIP 4 83348 4.79916E-5 41674 0 NA
16-53529187-A-G p.Tyr100Tyr synonymous AKTIP 1 83332 1.20002E-5 41666 0 2.47255E-5
16-53529199-C-T p.Val96Val synonymous AKTIP 3 83324 3.6004E-5 41662 0 8.24579E-6
16-53529207-C-T p.Val94Ile missense AKTIP 1 83294 1.20057E-5 41647 0 1.9884E-5
16-53532323-T-C p.Glu76Glu synonymous AKTIP 3 82058 3.65595E-5 41029 0 6.36699E-5
16-53532332-G-A p.Phe73Phe synonymous AKTIP 1 82100 1.21803E-5 41050 0 NA
16-53532334-AG-A p.Phe73fs frameshift AKTIP 2 82112 2.4357E-5 41056 0 NA
16-53532336-G-C p.Pro72Arg missense AKTIP 1 82132 1.21755E-5 41066 0 3.98086E-6
16-53532352-G-A p.His67Tyr missense AKTIP 1 82292 1.21518E-5 41146 0 NA
16-53532353-C-G p.Thr66Thr synonymous AKTIP 1 82290 1.21521E-5 41145 0 NA
16-53532356-G-A p.Gly65Gly synonymous AKTIP 1 82334 1.21457E-5 41167 0 1.6475E-5
16-53532364-T-C p.Thr63Ala missense AKTIP 2 82368 2.42813E-5 41184 0 NA
16-53532364-T-A p.Thr63Ser missense AKTIP 1 82368 1.21406E-5 41184 0 NA
16-53532365-T-C p.Ser62Ser synonymous AKTIP 1 82374 1.21398E-5 41187 0 NA
16-53532382-CAGGAGATGT-C p.Thr54_Pro56del conservative_inframe_deletion AKTIP 1 82536 1.21159E-5 41268 0 1.64769E-5
16-53532401-T-C p.Ile50Met missense AKTIP 1 82738 1.20863E-5 41369 0 NA
16-53532429-G-A p.Pro41Leu missense AKTIP 1 83142 1.20276E-5 41571 0 NA
16-53532433-G-C p.Leu40Val missense AKTIP 1 83200 1.20192E-5 41600 0 NA
16-53532453-C-G p.Arg33Pro missense AKTIP 3 83282 3.60222E-5 41641 0 8.2375E-6
16-53532472-C-T p.Val27Met missense AKTIP 2 83342 2.39975E-5 41671 0 8.2371E-6
16-53532472-C-A p.Val27Leu missense AKTIP 1 83342 1.19988E-5 41671 0 NA
16-53532473-G-A p.Asp26Asp synonymous AKTIP 4 83344 4.79939E-5 41672 0 0.00375
16-53532488-C-G p.Lys21Asn missense AKTIP 1 83344 1.19985E-5 41672 0 2.38593E-5
16-53532490-T-C p.Lys21Glu missense AKTIP 1 83350 1.19976E-5 41675 0 1.59061E-5
16-53532491-C-A p.Glu20Asp missense AKTIP 1 83348 1.19979E-5 41674 0 2.47113E-5
16-53532498-C-T p.Gly18Asp missense AKTIP 4 83350 4.79904E-5 41675 0 NA
16-53532500-T-C p.Glu17Glu synonymous AKTIP 1 83354 1.1997E-5 41677 0 3.18492E-5
16-53532507-C-T p.Arg15Gln missense+splice_region AKTIP 4 83344 4.79939E-5 41672 0 6.25E-4
16-53534134-C-T p.Arg13His missense AKTIP 1 82838 1.20718E-5 41419 0 5.03525E-4
16-53534148-A-G p.Ser8Ser synonymous AKTIP 6 83032 7.22613E-5 41516 0 3.19691E-5
16-53534152-A-G p.Met7Thr missense AKTIP 2 83042 2.40842E-5 41521 0 NA
16-53534160-G-A p.Phe4Phe synonymous AKTIP 2 83066 2.40772E-5 41533 0 NA
16-53534228-G-A c.-57C>T 5_prime_UTR_premature_start_codon_gain AKTIP 9 81948 1.09826E-4 40974 0 3.18776E-5
16-53535485-GA-G c.-120-4delT splice_region AKTIP 1 16 0.0625 8 0 0.0071324
16-53537060-C-G c.-122G>C splice_region AKTIP 4 870 0.0045977 435 0 0.00781599