Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-77924227-A-G c.-424A>G 5_prime_UTR_premature_start_codon_gain AHSA1 2160 21054 0.102593 10527 46 0.117137
14-77924254-T-C c.-397T>C 5_prime_UTR_premature_start_codon_gain AHSA1 11 30738 3.57863E-4 15369 0 4.4603E-4
14-77924273-T-C c.-378T>C 5_prime_UTR_premature_start_codon_gain AHSA1 2 35420 5.64653E-5 17710 0 6.37186E-5
14-77924316-G-T c.-335G>T 5_prime_UTR_premature_start_codon_gain AHSA1 1 48674 2.05448E-5 24337 0 NA
14-77924330-G-A c.-326+5G>A splice_region AHSA1 1 52446 1.90672E-5 26223 0 NA
14-77924446-A-T c.-87A>T 5_prime_UTR_premature_start_codon_gain AHSA1 1 77330 1.29316E-5 38665 0 NA
14-77924462-C-T c.-71C>T 5_prime_UTR_premature_start_codon_gain AHSA1 1 78070 1.2809E-5 39035 0 NA
14-77924486-G-A c.-47G>A 5_prime_UTR_premature_start_codon_gain AHSA1 1 79488 1.25805E-5 39744 0 NA
14-77924541-G-A p.Lys3Lys synonymous AHSA1 2 80036 2.49888E-5 40018 0 NA
14-77924559-A-G p.Pro9Pro synonymous AHSA1 1 79908 1.25144E-5 39954 0 NA
14-77924610-C-T p.His26His splice_region+synonymous AHSA1 3 79612 3.76828E-5 39806 0 NA
14-77924615-G-A c.80+3G>A splice_region AHSA1 3 79540 3.77169E-5 39770 0 NA
14-77925968-A-G p.Arg30Arg synonymous AHSA1 2 83356 2.39935E-5 41678 0 NA
14-77925978-A-C p.Asn34His missense AHSA1 8 83370 9.59578E-5 41685 0 6.25E-4
14-77925992-T-G p.Asp38Glu missense AHSA1 1 83388 1.19921E-5 41694 0 NA
14-77926010-CC-TT p.PheLeu44PheLeu synonymous AHSA1 1 83404 1.19898E-5 41702 0 NA
14-77926011-C-T c.-273C>T 5_prime_UTR_premature_start_codon_gain AHSA1 38272 83018 0.461008 41509 9475 0.519811
14-77926014-G-A p.Ala46Thr missense AHSA1 1 83402 1.19901E-5 41701 0 NA
14-77926017-G-C p.Val47Leu missense AHSA1 1 83404 1.19898E-5 41702 0 3.18329E-5
14-77926023-G-C p.Val49Leu missense AHSA1 1 83410 1.1989E-5 41705 0 NA
14-77926023-G-A p.Val49Ile missense AHSA1 1 83410 1.1989E-5 41705 0 1.64728E-5
14-77926031-T-C p.Asn51Asn synonymous AHSA1 1 83410 1.1989E-5 41705 0 3.29457E-5
14-77926055-G-A p.Thr59Thr synonymous AHSA1 137 83404 0.00164261 41702 1 0.00289754
14-77926056-G-C p.Glu60Gln missense AHSA1 2 83412 2.39774E-5 41706 0 NA
14-77926097-C-G p.Arg73Arg synonymous AHSA1 4 83398 4.79628E-5 41699 0 NA
14-77926103-G-C p.Gly75Gly synonymous AHSA1 1 83396 1.1991E-5 41698 0 NA
14-77926131-G-A p.Val85Ile missense AHSA1 1 83360 1.19962E-5 41680 0 2.47125E-5
14-77926153-A-C p.Lys92Thr missense AHSA1 2 83334 2.39998E-5 41667 1 NA
14-77926163-G-C p.Leu95Leu synonymous AHSA1 1 83298 1.20051E-5 41649 0 8.24797E-6
14-77926166-C-T p.Gly96Gly synonymous AHSA1 1 83292 1.2006E-5 41646 0 1.19323E-5
14-77926170-CAGAG-C p.Arg99fs frameshift AHSA1 1 83274 1.20085E-5 41637 0 8.25382E-6
14-77926170-C-T p.Gln98* stop_gained AHSA1 1 83274 1.20085E-5 41637 0 NA
14-77928496-T-C c.272-7T>C splice_region AHSA1 3 82502 3.63628E-5 41251 0 1.65667E-5
14-77928503-G-A p.Gly91Asp missense+splice_region AHSA1 1 82666 1.20969E-5 41333 0 3.98E-6
14-77928504-T-C p.Gly91Gly splice_region+synonymous AHSA1 1 82670 1.20963E-5 41335 0 8.27321E-6
14-77928525-A-G p.Gln98Gln synonymous AHSA1 51961 82166 0.63239 41083 16794 0.66122
14-77928525-AT-GG p.GlnTyr98GlnAsp missense AHSA1 1 82926 1.20589E-5 41463 0 NA
14-77928537-T-C p.His102His synonymous AHSA1 1 82982 1.20508E-5 41491 0 3.97697E-6
14-77928546-C-T p.Ile105Ile synonymous AHSA1 1262 82946 0.0152147 41473 56 0.031025
14-77928551-A-G p.Asn107Ser missense AHSA1 1 82978 1.20514E-5 41489 0 3.18634E-5
14-77928564-A-G p.Glu111Glu synonymous AHSA1 1 82964 1.20534E-5 41482 0 NA
14-77928565-A-G p.Asn112Asp missense AHSA1 1 82972 1.20523E-5 41486 0 NA
14-77928567-C-T p.Asn112Asn synonymous AHSA1 2 82976 2.41034E-5 41488 0 NA
14-77928570-C-T p.Ser113Ser synonymous AHSA1 1 82960 1.2054E-5 41480 0 1.65104E-5
14-77928571-G-A p.Val114Met missense AHSA1 8 82950 9.64436E-5 41475 0 1.27389E-4
14-77928589-T-A c.354+4T>A splice_region AHSA1 1 82840 1.20715E-5 41420 0 NA
14-77928979-A-G c.355-6A>G splice_region AHSA1 4 83212 4.807E-5 41606 0 3.18552E-5
14-77929024-C-T p.Leu132Phe missense AHSA1 1 83322 1.20016E-5 41661 0 0.00151057
14-77929028-T-C p.Val133Ala missense AHSA1 351 83322 0.00421257 41661 1 0.00369427
14-77929060-C-G p.Leu144Val missense AHSA1 1 83310 1.20034E-5 41655 0 NA
14-77929083-C-T p.Tyr151Tyr synonymous AHSA1 1 83272 1.20088E-5 41636 0 NA
14-77929093-C-G p.Leu155Val missense AHSA1 1 83234 1.20143E-5 41617 0 NA
14-77930945-C-G p.Phe159Leu missense AHSA1 1 83240 1.20135E-5 41620 0 1.20322E-5
14-77930957-G-A p.Met163Ile missense AHSA1 1 83270 1.20091E-5 41635 0 NA
14-77930966-T-C p.Pro166Pro synonymous AHSA1 1 83286 1.20068E-5 41643 0 NA
14-77930970-A-G p.Met168Val missense AHSA1 1 83276 1.20083E-5 41638 0 NA
14-77930971-T-G p.Met168Arg missense AHSA1 3 83284 3.60213E-5 41642 0 NA
14-77930983-C-T p.Ser172Leu missense AHSA1 2 83322 2.40033E-5 41661 0 NA
14-77930987-A-G p.Val173Val synonymous AHSA1 1 83312 1.20031E-5 41656 0 1.64978E-5
14-77931024-C-T p.Arg186Cys missense AHSA1 5 83142 6.01381E-5 41571 0 5.04541E-4
14-77931025-G-T p.Arg186Leu missense AHSA1 5 83142 6.01381E-5 41571 0 3.18512E-5
14-77931027-A-G p.Lys187Glu missense+splice_region AHSA1 1 83114 1.20317E-5 41557 0 8.36009E-6
14-77931034-A-G c.561+5A>G splice_region AHSA1 422 82962 0.00508667 41481 4 0.00729299
14-77931037-G-A c.561+8G>A splice_region AHSA1 2 82906 2.41237E-5 41453 0 NA
14-77931037-G-C c.561+8G>C splice_region AHSA1 1 82906 1.20619E-5 41453 0 NA
14-77931902-A-T p.Lys194Asn missense AHSA1 2 83206 2.40367E-5 41603 0 NA
14-77931910-C-G p.Ala197Gly missense AHSA1 1 83194 1.20201E-5 41597 0 3.97791E-6
14-77931912-A-G p.Arg198Gly missense AHSA1 1 83196 1.20198E-5 41598 0 NA
14-77931915-C-T p.Pro199Ser missense AHSA1 11 83194 1.32221E-4 41597 0 5.17096E-5
14-77931917-T-C p.Pro199Pro synonymous AHSA1 21 83210 2.52374E-4 41605 0 2.26727E-4
14-77931918-G-C p.Val200Leu missense AHSA1 1 83214 1.20172E-5 41607 0 NA
14-77931926-C-A p.Val202Val synonymous AHSA1 1 83232 1.20146E-5 41616 0 5.03525E-4
14-77931941-T-C p.Cys207Cys synonymous AHSA1 36 83256 4.32401E-4 41628 0 6.67304E-4
14-77931945-A-G p.Ile209Val missense AHSA1 2 83244 2.40258E-5 41622 0 3.18431E-5
14-77931948-A-T p.Thr210Ser missense AHSA1 6 83248 7.20738E-5 41624 0 1.59236E-4
14-77931968-G-T p.Leu216Leu synonymous AHSA1 2 83288 2.40131E-5 41644 0 NA
14-77931970-C-T p.Thr217Met missense AHSA1 2 83284 2.40142E-5 41642 0 2.78383E-5
14-77931971-G-A p.Thr217Thr synonymous AHSA1 2 83284 2.40142E-5 41642 0 2.47158E-5
14-77931973-C-T p.Ser218Leu missense AHSA1 2 83284 2.40142E-5 41642 0 NA
14-77931986-C-G p.Leu222Leu synonymous AHSA1 2 83282 2.40148E-5 41641 0 7.4151E-5
14-77932010-G-C p.Glu230Asp missense+splice_region AHSA1 2 83210 2.40356E-5 41605 0 8.24185E-6
14-77932017-A-C c.690+7A>C splice_region AHSA1 37417 81708 0.457936 40854 9097 0.521225
14-77934417-T-TC c.691-9_691-8insC splice_region AHSA1 10 79042 1.26515E-4 39521 0 5.30598E-4
14-77934417-TCCC-T c.691-8_691-6delCCC splice_region AHSA1 15 79004 1.89864E-4 39502 0 0.00158708
14-77934417-TCC-T c.691-8_691-7delCC splice_region AHSA1 3 79042 3.79545E-5 39521 0 0.00129702
14-77934417-T-TTC c.691-9_691-8insTC splice_region AHSA1 1 79052 1.26499E-5 39526 0 2.74292E-4
14-77934418-C-T c.691-8C>T splice_region AHSA1 21 75580 2.77851E-4 37790 0 0.00459031
14-77934418-C-A c.691-8C>A splice_region AHSA1 3 75718 3.96207E-5 37859 0 9.47329E-5
14-77934419-C-T c.691-7C>T splice_region AHSA1 12 76870 1.56108E-4 38435 0 0.00185973
14-77934420-C-T c.691-6C>T splice_region AHSA1 8 77510 1.03212E-4 38755 0 0.00159054
14-77934420-C-CTT c.691-6_691-5insTT splice_region AHSA1 1 77644 1.28793E-5 38822 0 4.138E-4
14-77934429-G-T p.Val232Leu missense AHSA1 1 80092 1.24856E-5 40046 0 3.64644E-5
14-77934431-G-A p.Val232Val synonymous AHSA1 1416 80072 0.0176841 40036 78 0.0383119
14-77934443-C-T p.Thr236Thr synonymous AHSA1 1 80800 1.23762E-5 40400 0 4.68296E-5
14-77934467-A-G p.Ala244Ala synonymous AHSA1 1 81198 1.23156E-5 40599 0 4.31072E-5
14-77934491-G-T p.Met252Ile missense AHSA1 1 81450 1.22775E-5 40725 0 0.00304878
14-77934502-A-G p.Asn256Ser missense AHSA1 3 81540 3.67918E-5 40770 0 6.40697E-5
14-77934503-C-T p.Asn256Asn synonymous AHSA1 3 81512 3.68044E-5 40756 0 2.9419E-5
14-77934504-G-A p.Val257Ile missense AHSA1 9 81502 1.10427E-4 40751 0 1.26861E-4
14-77934540-C-T p.Arg214Trp missense AHSA1 2 81298 2.46009E-5 40649 0 0.00125
14-77934809-A-G p.Lys268Glu missense AHSA1 2 82778 2.4161E-5 41389 0 3.9795E-6
14-77934812-C-T p.His269Tyr missense AHSA1 5 82748 6.04244E-5 41374 0 7.9571E-6
14-77934813-A-G p.His269Arg missense AHSA1 2 82720 2.41779E-5 41360 0 2.47211E-5
14-77934849-A-T p.Glu281Val missense+splice_region AHSA1 2 82434 2.42618E-5 41217 0 8.24226E-6
14-77934850-GGGTAAGTAAACATATTTATTGCCATTACCCCCAGAACTTTTTCTCTTTGCTGTAATTTTTTTTTTTTTTTTTTTGGAAACA-G p.Gly282fs frameshift AHSA1 1 82472 1.21253E-5 41236 0 NA
14-77934851-G-GCA c.844_844+1insCA splice_donor AHSA1 1 82428 1.21318E-5 41214 0 NA
14-77934852-G-A c.844+1G>A splice_donor AHSA1 1 82286 1.21527E-5 41143 0 NA
14-77934925-G-T c.845-8G>T splice_region AHSA1 1 74264 1.34655E-5 37132 0 0.0377504
14-77934930-CAG-C c.845-2_845-1delAG splice_acceptor AHSA1 1 71712 1.39447E-5 35856 0 1.55573E-5
14-77934943-T-TC p.His286fs frameshift AHSA1 1 67526 1.48091E-5 33763 0 1.92108E-5
14-77934948-C-G p.Ser287* stop_gained AHSA1 10 66218 1.51016E-4 33109 0 1.2604E-4
14-77934951-G-A p.Gly288Asp missense AHSA1 1 65884 1.51782E-5 32942 0 2.22658E-5
14-77934955-G-T p.Ter289Tyrext*? stop_lost AHSA1 1 64650 1.54679E-5 32325 0 NA
14-77935101-T-C c.*146T>C splice_region AHSA1 1 13648 7.32708E-5 6824 0 NA
14-77935140-G-A p.Ser1Asn missense AHSA1 1 20942 4.77509E-5 10471 0 NA
14-77935142-C-T p.Leu2Phe missense AHSA1 1 21354 4.68296E-5 10677 0 NA
14-77935145-G-A p.Glu3Lys missense AHSA1 6968 19354 0.360029 9677 1470 0.518817
14-77935153-G-A p.Leu5Leu synonymous AHSA1 1 24472 4.0863E-5 12236 0 2.68926E-4
14-77935200-C-A p.Thr21Lys missense AHSA1 2 42294 4.7288E-5 21147 0 NA
14-77935210-C-G p.Cys24Trp missense AHSA1 2 46296 4.32003E-5 23148 0 NA
14-77935217-G-A p.Ala27Thr missense AHSA1 15 49682 3.0192E-4 24841 0 1.49159E-4
14-77935217-G-GC p.His28fs frameshift AHSA1 1 49688 2.01256E-5 24844 0 3.51939E-5
14-77935222-C-T p.His28His synonymous AHSA1 2 54294 3.68365E-5 27147 0 6.77507E-4
14-77935236-A-G p.Glu33Gly missense AHSA1 910 61392 0.0148228 30696 6 0.0536869
14-77935239-T-TG p.Glu35fs frameshift AHSA1 27335 61252 0.446271 30626 6870 0.613432
14-77935270-G-A p.Leu44Leu synonymous AHSA1 2 72830 2.74612E-5 36415 0 NA
14-77935279-G-C p.Leu47Leu synonymous AHSA1 2 74718 2.67673E-5 37359 0 9.82254E-5
14-77935293-C-T p.Pro52Leu missense AHSA1 2 77030 2.59639E-5 38515 0 4.50308E-5
14-77935294-G-A p.Pro52Pro synonymous AHSA1 17 77144 2.20367E-4 38572 0 6.81022E-4
14-77935305-C-T p.Ala56Val missense AHSA1 1 79312 1.26084E-5 39656 0 5.22051E-6
14-77935330-T-C c.190+2T>C splice_donor AHSA1 1 81628 1.22507E-5 40814 0 NA
14-77935424-C-T p.His283His synonymous AHSA1 10 83388 1.19921E-4 41694 0 0.00151057
14-77935431-A-G p.Thr286Ala missense AHSA1 6 83390 7.19511E-5 41695 0 1.99189E-5
14-77935436-C-A p.Ile287Ile synonymous AHSA1 1 83394 1.19913E-5 41697 0 NA
14-77935437-A-G p.Thr288Ala missense AHSA1 3 83388 3.59764E-5 41694 0 5.03525E-4
14-77935452-G-A p.Asp293Asn missense AHSA1 9 83390 1.07927E-4 41695 0 7.414E-5
14-77935460-C-T p.Asn295Asn synonymous AHSA1 1 83392 1.19916E-5 41696 0 8.23778E-6
14-77935461-G-A p.Gly296Arg missense AHSA1 1 83394 1.19913E-5 41697 0 2.47121E-5
14-77935489-G-A p.Arg305Gln missense AHSA1 1 83374 1.19941E-5 41687 0 NA
14-77935520-G-A p.Thr315Thr synonymous AHSA1 38392 82916 0.463023 41458 9506 0.521145
14-77935521-C-T p.Arg316* stop_gained AHSA1 2 83370 2.39894E-5 41685 0 NA
14-77935522-G-A p.Arg316Gln missense AHSA1 3 83372 3.59833E-5 41686 0 4.11828E-5
14-77935529-C-T p.Gly318Gly synonymous AHSA1 1 83370 1.19947E-5 41685 0 NA
14-77935536-C-T p.Arg321Trp missense AHSA1 1 83366 1.19953E-5 41683 0 3.18898E-5
14-77935537-G-A p.Arg321Gln missense AHSA1 2 83362 2.39917E-5 41681 0 3.18817E-5
14-77935538-G-T p.Arg321Arg synonymous AHSA1 1 83364 1.19956E-5 41682 0 NA
14-77935541-C-T p.Tyr322Tyr synonymous AHSA1 2 83362 2.39917E-5 41681 0 8.23683E-6
14-77935552-G-C p.Gly326Ala missense AHSA1 1 83334 1.19999E-5 41667 0 NA
14-77935564-C-A p.Thr330Asn missense AHSA1 1 83324 1.20013E-5 41662 0 1.59139E-5
14-77935576-G-A p.Gly334Asp missense AHSA1 1 83266 1.20097E-5 41633 0 8.24565E-6
14-77935577-C-T p.Gly334Gly synonymous AHSA1 10 83264 1.201E-4 41632 0 1.91375E-4
14-77935578-G-A p.Ala335Thr missense AHSA1 5 83258 6.00543E-5 41629 0 5.57676E-5
14-77935582-G-A p.Arg336His missense AHSA1 79 83226 9.49223E-4 41613 0 0.0115811