Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-165632293-A-G p.Ala517Ala synonymous ALDH9A1 3 80696 3.71766E-5 40348 0 2.38912E-5
1-165632301-C-CTCCT p.Glu515fs frameshift ALDH9A1 1 80700 1.23916E-5 40350 0 NA
1-165632301-C-T p.Glu515Lys missense ALDH9A1 1 80700 1.23916E-5 40350 0 NA
1-165632311-C-T p.Met511Ile missense ALDH9A1 1 80696 1.23922E-5 40348 0 NA
1-165632316-CCA-C p.Val509fs frameshift ALDH9A1 1 80690 1.23931E-5 40345 0 3.98295E-6
1-165632325-C-T p.Val507Met missense ALDH9A1 1 80670 1.23962E-5 40335 0 6.36983E-5
1-165632342-T-A p.Tyr501Phe missense ALDH9A1 2 80702 2.47825E-5 40351 0 5.7691E-5
1-165632349-C-T p.Glu499Lys missense ALDH9A1 2 80694 2.4785E-5 40347 0 8.24158E-6
1-165632349-C-A p.Glu499* stop_gained ALDH9A1 1 80694 1.23925E-5 40347 0 8.24158E-6
1-165632350-G-A p.Ile498Ile synonymous ALDH9A1 8 80692 9.91424E-5 40346 0 9.55475E-5
1-165632352-T-C p.Ile498Val missense ALDH9A1 4 80670 4.95847E-5 40335 0 1.27389E-4
1-165632358-C-T p.Val496Met missense ALDH9A1 2 80662 2.47948E-5 40331 0 3.98289E-6
1-165632360-C-T p.Arg495His missense ALDH9A1 21 80638 2.60423E-4 40319 1 0.00151057
1-165632361-G-A p.Arg495Cys missense ALDH9A1 1 80620 1.24039E-5 40310 0 2.78838E-5
1-165632365-G-A p.Asn493Asn synonymous ALDH9A1 1 80608 1.24057E-5 40304 0 1.07201E-4
1-165632367-T-C p.Asn493Asp missense ALDH9A1 1 80594 1.24079E-5 40297 0 NA
1-165632380-T-C p.Gly488Gly splice_region+synonymous ALDH9A1 1 80544 1.24156E-5 40272 0 7.96895E-6
1-165632384-G-GACTTCTTATATCCACC c.1463-4_1463-3insGGTGGATATAAGAAGT splice_region ALDH9A1 4 80524 4.96746E-5 40262 2 NA
1-165632386-AAGG-A c.1463-8_1463-6delCCT splice_region ALDH9A1 1 80498 1.24227E-5 40249 0 1.1955E-5
1-165632389-G-A c.1463-8C>T splice_region ALDH9A1 1 80492 1.24236E-5 40246 0 6.36902E-5
1-165634252-C-T c.1462+3G>A splice_region ALDH9A1 67 80928 8.27896E-4 40464 0 0.00175215
1-165634254-C-A c.1462+1G>T splice_donor ALDH9A1 1 80956 1.23524E-5 40478 0 7.95931E-6
1-165634281-A-G p.Leu479Ser missense ALDH9A1 1 80998 1.2346E-5 40499 0 NA
1-165634297-C-T p.Val474Ile missense ALDH9A1 1 81004 1.23451E-5 40502 0 3.97845E-6
1-165634298-G-A p.Asn473Asn synonymous ALDH9A1 5 81012 6.17192E-5 40506 0 1.59166E-4
1-165634302-T-C p.Tyr472Cys missense ALDH9A1 81 80988 0.00100015 40494 0 0.0025
1-165634319-C-T p.Thr466Thr synonymous ALDH9A1 2 80894 2.47237E-5 40447 0 4.95033E-5
1-165634320-G-A p.Thr466Met missense ALDH9A1 1 80906 1.236E-5 40453 0 3.97985E-6
1-165634336-C-T p.Glu461Lys missense ALDH9A1 946 80826 0.0117042 40413 12 0.045625
1-165634349-A-G p.His456His synonymous ALDH9A1 2 80774 2.47604E-5 40387 0 NA
1-165634356-C-T p.Arg454Gln missense ALDH9A1 2 80670 2.47924E-5 40335 0 1.27673E-4
1-165634357-G-A p.Arg454Trp missense ALDH9A1 1 80684 1.2394E-5 40342 0 3.19081E-5
1-165634358-T-C p.Gln453Gln synonymous ALDH9A1 16 80690 1.9829E-4 40345 0 2.48488E-4
1-165634366-C-A p.Asp451Tyr missense+splice_region ALDH9A1 1 80628 1.24026E-5 40314 0 NA
1-165636541-CA-C c.1349+4delT splice_region ALDH9A1 2 80194 2.49395E-5 40097 0 8.30523E-6
1-165636543-T-C c.1349+3A>G splice_region ALDH9A1 1 80222 1.24654E-5 40111 0 NA
1-165636544-A-C c.1349+2T>G splice_donor ALDH9A1 1 80238 1.24629E-5 40119 0 NA
1-165636547-T-A p.Arg450Trp missense+splice_region ALDH9A1 1 80272 1.24576E-5 40136 0 NA
1-165636548-G-A p.Thr449Thr splice_region+synonymous ALDH9A1 4 80270 4.98318E-5 40135 0 6.25E-4
1-165636556-C-T p.Val447Ile missense ALDH9A1 1 80342 1.24468E-5 40171 0 6.25E-4
1-165636557-G-A p.Gly446Gly synonymous ALDH9A1 2 80354 2.48899E-5 40177 0 1.65868E-5
1-165636560-A-G p.Ala445Ala synonymous ALDH9A1 22 80380 2.737E-4 40190 0 0.00100705
1-165636562-C-T p.Ala445Thr missense ALDH9A1 2 80382 2.48812E-5 40191 0 NA
1-165636585-T-C p.Asn437Ser missense ALDH9A1 2 80520 2.48385E-5 40260 0 NA
1-165636592-T-C p.Arg435Gly missense ALDH9A1 2 80552 2.48287E-5 40276 0 NA
1-165636610-C-T p.Glu429Lys missense ALDH9A1 5 80608 6.20286E-5 40304 0 8.2813E-6
1-165636617-A-C p.Phe426Leu missense ALDH9A1 2 80642 2.4801E-5 40321 0 5.03525E-4
1-165636623-TA-T p.Leu424fs frameshift ALDH9A1 1 80634 1.24017E-5 40317 0 NA
1-165636666-G-A p.Thr410Ile missense ALDH9A1 1 80422 1.24344E-5 40211 0 3.18512E-5
1-165636674-G-A p.Asp407Asp synonymous ALDH9A1 7 80326 8.71449E-5 40163 0 2.99182E-4
1-165636687-G-A p.Thr403Ile missense+splice_region ALDH9A1 1 80128 1.248E-5 40064 0 4.00304E-6
1-165636695-C-T c.1208-8G>A splice_region ALDH9A1 2 79928 2.50225E-5 39964 0 NA
1-165638162-C-G c.1207+1G>C splice_donor ALDH9A1 1 80506 1.24214E-5 40253 0 NA
1-165638179-C-A p.Met397Ile missense ALDH9A1 1 80634 1.24017E-5 40317 0 NA
1-165638184-A-AAT p.Tyr396fs frameshift ALDH9A1 2 80658 2.47961E-5 40329 0 NA
1-165638189-C-A p.Gly394Val missense ALDH9A1 1 80686 1.23937E-5 40343 0 NA
1-165638192-T-C p.Asp393Gly missense ALDH9A1 46 80692 5.70069E-4 40346 0 3.2299E-4
1-165638222-A-G p.Ile383Thr missense ALDH9A1 1 80710 1.239E-5 40355 0 NA
1-165638226-C-T p.Asp382Asn missense ALDH9A1 2 80726 2.47752E-5 40363 0 3.99923E-6
1-165638233-A-G p.Cys379Cys synonymous ALDH9A1 2 80752 2.47672E-5 40376 0 1.20962E-5
1-165638239-C-G p.Val377Val synonymous ALDH9A1 1 80750 1.23839E-5 40375 0 NA
1-165638244-T-C p.Lys376Glu missense ALDH9A1 2 80754 2.47666E-5 40377 0 1.70593E-5
1-165638248-A-T p.Gly374Gly splice_region+synonymous ALDH9A1 1 80760 1.23824E-5 40380 0 4.36323E-6
1-165638254-C-A c.1120-4G>T splice_region ALDH9A1 2 80740 2.47709E-5 40370 0 4.48487E-6
1-165638255-C-T c.1120-5G>A splice_region ALDH9A1 7 80714 8.6726E-5 40357 0 1.80127E-5
1-165638256-G-A c.1120-6C>T splice_region ALDH9A1 122 80718 0.00151143 40359 1 8.07849E-4
1-165638507-T-C p.Lys371Glu missense ALDH9A1 1 81012 1.23439E-5 40506 0 1.24018E-5
1-165638511-CACTTTG-C p.Lys368_Val369del disruptive_inframe_deletion ALDH9A1 2 81010 2.46883E-5 40505 0 NA
1-165638519-C-A p.Val367Phe missense ALDH9A1 1 81020 1.23426E-5 40510 0 NA
1-165638528-G-C p.Leu364Val missense ALDH9A1 1 81032 1.23408E-5 40516 0 7.5198E-5
1-165638533-C-T p.Arg362Gln missense ALDH9A1 1 81036 1.23402E-5 40518 0 4.07395E-6
1-165638548-C-T p.Arg357Gln missense ALDH9A1 117 81034 0.00144384 40517 0 0.010574
1-165638549-G-T p.Arg357Arg synonymous ALDH9A1 1 81038 1.23399E-5 40519 0 3.99071E-6
1-165638558-G-A p.Leu354Phe missense ALDH9A1 2 81040 2.46792E-5 40520 0 9.55353E-5
1-165638558-G-T p.Leu354Ile missense ALDH9A1 1 81040 1.23396E-5 40520 0 NA
1-165638572-G-A p.Thr349Ile missense ALDH9A1 2 81048 2.46767E-5 40524 0 NA
1-165638605-C-T p.Arg338Lys missense ALDH9A1 1 80986 1.23478E-5 40493 0 3.98004E-6
1-165638626-T-G p.Glu331Ala missense ALDH9A1 1 80910 1.23594E-5 40455 0 NA
1-165638634-A-T p.Phe328Leu missense ALDH9A1 1 80886 1.23631E-5 40443 0 NA
1-165638635-A-C p.Phe328Cys missense ALDH9A1 44 80882 5.44002E-4 40441 0 0.00100705
1-165638649-T-C p.Glu323Glu synonymous ALDH9A1 2 80828 2.47439E-5 40414 0 4.38631E-5
1-165638651-C-A p.Glu323* stop_gained ALDH9A1 1 80808 1.2375E-5 40404 0 1.19662E-5
1-165638656-T-G p.Gln321Pro missense ALDH9A1 1 80782 1.2379E-5 40391 0 NA
1-165638662-A-G p.Phe319Ser missense ALDH9A1 1 80756 1.2383E-5 40378 0 NA
1-165638663-A-G p.Phe319Leu missense ALDH9A1 2 80750 2.47678E-5 40375 0 3.99249E-6
1-165638665-A-G p.Val318Ala missense ALDH9A1 1 80734 1.23864E-5 40367 0 8.00083E-6
1-165638671-G-A p.Thr316Ile missense ALDH9A1 1 80686 1.23937E-5 40343 0 NA
1-165638672-T-C p.Thr316Ala missense ALDH9A1 1 80680 1.23946E-5 40340 0 8.52428E-6
1-165638681-A-G p.Cys313Arg missense ALDH9A1 2 80576 2.48213E-5 40288 0 3.1837E-5
1-165638682-GC-TT p.Cys312* stop_gained ALDH9A1 1 80556 1.24137E-5 40278 0 NA
1-165638687-C-A p.Val311Phe missense+splice_region ALDH9A1 3 80436 3.72967E-5 40218 0 5.03525E-4
1-165638689-T-TGGCCTTGTGTGAGGAAGTTGGCCATCAGCGCCCCCTTTACAGCATTGTTC c.931-3_931-2insGAACAATGCTGTAAAGGGGGCGCTGATGGCCAACTTCCTCACACAAGGCC splice_region ALDH9A1 2 80430 2.48663E-5 40215 1 NA
1-165648688-T-A p.Thr307Thr synonymous ALDH9A1 1 80446 1.24307E-5 40223 0 NA
1-165648688-T-C p.Thr307Thr synonymous ALDH9A1 1 80446 1.24307E-5 40223 0 1.65085E-5
1-165648697-G-C p.Asn304Lys missense ALDH9A1 2 80526 2.48367E-5 40263 0 8.76124E-5
1-165648709-C-T p.Ala300Ala synonymous ALDH9A1 6080 80458 0.0755674 40229 250 0.120625
1-165648710-G-A p.Ala300Val missense ALDH9A1 1582 80608 0.0196258 40304 30 0.038125
1-165648715-C-A p.Lys298Asn missense ALDH9A1 1 80684 1.2394E-5 40342 0 8.24144E-6
1-165648731-A-T p.Met293Lys missense ALDH9A1 1 80786 1.23784E-5 40393 0 1.64802E-5
1-165648736-A-G p.Cys291Cys synonymous ALDH9A1 1 80820 1.23732E-5 40410 0 NA
1-165648738-A-T p.Cys291Ser missense ALDH9A1 3 80830 3.71149E-5 40415 0 NA
1-165648739-G-A p.Asp290Asp synonymous ALDH9A1 3 80814 3.71223E-5 40407 0 3.29549E-5
1-165648748-G-C p.Ile287Met missense ALDH9A1 1 80870 1.23655E-5 40435 0 3.1841E-5
1-165648750-T-C p.Ile287Val missense ALDH9A1 9 80868 1.11292E-4 40434 0 7.16076E-5
1-165648775-T-G p.Glu278Asp missense ALDH9A1 1 80864 1.23664E-5 40432 0 NA
1-165648781-G-A p.Thr276Thr synonymous ALDH9A1 2 80850 2.47372E-5 40425 0 3.97842E-6
1-165648795-T-C p.Ile272Val missense ALDH9A1 3 80794 3.71315E-5 40397 0 0.00136917
1-165648799-T-C p.Lys270Lys synonymous ALDH9A1 1 80784 1.23787E-5 40392 0 NA
1-165648801-T-C p.Lys270Glu missense ALDH9A1 3 80772 3.71416E-5 40386 0 9.55231E-5
1-165648813-C-T p.Glu266Lys missense ALDH9A1 1 80690 1.23931E-5 40345 0 NA
1-165648822-T-TCATGCCAGTGGGCACACTTCCAGTGAAGGAGACTTTGGCCACATCG c.790-4_790-3insCGATGTGGCCAAAGTCTCCTTCACTGGAAGTGTGCCCACTGGCATG splice_region ALDH9A1 2 80638 2.48022E-5 40319 1 NA
1-165649717-T-C c.789+7A>G splice_region ALDH9A1 6 79542 7.54318E-5 39771 0 0.00125
1-165649719-C-T c.789+5G>A splice_region ALDH9A1 1 79676 1.25508E-5 39838 0 8.01166E-6
1-165649731-C-T p.Gly261Asp missense ALDH9A1 2 80100 2.49688E-5 40050 0 3.99575E-6
1-165649735-T-G p.Thr260Pro missense ALDH9A1 2 80174 2.49457E-5 40087 0 3.18431E-5
1-165649735-T-C p.Thr260Ala missense ALDH9A1 1 80174 1.24729E-5 40087 0 3.99345E-6
1-165649746-C-G p.Gly256Ala missense ALDH9A1 1 80326 1.24493E-5 40163 0 1.19703E-5
1-165649749-G-A p.Thr255Ile missense ALDH9A1 1 80374 1.24418E-5 40187 0 3.1839E-5
1-165649750-TG-T p.Phe254fs frameshift ALDH9A1 1 80388 1.24397E-5 40194 0 NA
1-165649757-G-A p.Val252Val synonymous ALDH9A1 1 80460 1.24285E-5 40230 0 NA
1-165649759-CTT-C p.Lys251fs frameshift ALDH9A1 1 80500 1.24224E-5 40250 0 1.65832E-5
1-165649760-T-G p.Lys251Asn missense ALDH9A1 3 80506 3.72643E-5 40253 0 NA
1-165649763-G-A p.Ala250Ala synonymous ALDH9A1 2 80532 2.48348E-5 40266 0 3.18532E-5
1-165649769-A-G p.Asp248Asp synonymous ALDH9A1 1 80630 1.24023E-5 40315 0 NA
1-165649771-C-T p.Asp248Asn missense ALDH9A1 15 80642 1.86007E-4 40321 0 9.93674E-5
1-165649772-G-A p.Pro247Pro synonymous ALDH9A1 2 80656 2.47967E-5 40328 0 5.57667E-5
1-165649784-C-T p.Leu243Leu synonymous ALDH9A1 1 80808 1.2375E-5 40404 0 0.0020141
1-165649790-C-G p.Gln241His missense ALDH9A1 2 80834 2.47421E-5 40417 0 NA
1-165649797-G-GT p.Thr239fs frameshift ALDH9A1 1 80836 1.23707E-5 40418 0 NA
1-165649797-G-C p.Thr239Arg missense ALDH9A1 1 80836 1.23707E-5 40418 0 1.194E-5
1-165649807-C-G p.Gly236Arg missense ALDH9A1 1 80892 1.23622E-5 40446 0 NA
1-165649813-G-A p.Gln234* stop_gained ALDH9A1 5 80904 6.18016E-5 40452 0 6.60349E-5
1-165649814-C-T p.Val233Val synonymous ALDH9A1 2 80904 2.47207E-5 40452 0 1.19373E-5
1-165649821-T-C p.Asn231Ser missense ALDH9A1 2 80926 2.47139E-5 40463 0 1.19361E-5
1-165649841-A-C p.Gly224Gly synonymous ALDH9A1 18 80982 2.22272E-4 40491 0 0.00251762
1-165649845-G-T p.Ala223Asp missense ALDH9A1 2 81006 2.46895E-5 40503 0 1.98943E-5
1-165649851-C-G p.Ser221Thr missense ALDH9A1 974 81018 0.012022 40509 23 0.0236657
1-165649854-T-C p.Tyr220Cys missense ALDH9A1 4 81034 4.9362E-5 40517 0 1.07195E-4
1-165649860-T-G p.Glu218Ala missense ALDH9A1 24 81038 2.96157E-4 40519 0 0.001875
1-165649864-C-T p.Ala217Thr missense ALDH9A1 1 81036 1.23402E-5 40518 0 NA
1-165649868-T-A p.Leu215Leu synonymous ALDH9A1 2 81040 2.46792E-5 40520 0 3.18532E-5
1-165649868-T-G p.Leu215Leu synonymous ALDH9A1 2 81040 2.46792E-5 40520 0 NA
1-165649887-G-A p.Thr209Ile missense ALDH9A1 2 81028 2.46828E-5 40514 0 1.65155E-5
1-165649904-A-G p.Phe203Phe synonymous ALDH9A1 1 80992 1.23469E-5 40496 0 NA
1-165649916-A-G p.Asn199Asn synonymous ALDH9A1 1 80930 1.23564E-5 40465 0 8.34948E-6
1-165649921-C-CACAGGCTAA c.593-2_593-1insTTAGCCTGT splice_acceptor ALDH9A1 6 80924 7.41436E-5 40462 2 NA
1-165649926-T-C c.593-6A>G splice_region ALDH9A1 1 80884 1.23634E-5 40442 0 NA
1-165651351-T-C p.Leu195Leu synonymous ALDH9A1 5 81024 6.17101E-5 40512 0 5.77815E-5
1-165651355-G-A p.Ala194Val missense ALDH9A1 4 81018 4.93717E-5 40509 0 6.25E-4
1-165651363-C-T p.Ser191Ser synonymous ALDH9A1 1 81022 1.23423E-5 40511 0 6.36902E-5
1-165651364-G-A p.Ser191Leu missense ALDH9A1 9 81022 1.11081E-4 40511 0 6.36943E-5
1-165651374-A-G p.Ser188Pro missense ALDH9A1 4 81002 4.93815E-5 40501 0 1.98983E-5
1-165651386-A-C p.Phe184Val missense ALDH9A1 1 80996 1.23463E-5 40498 0 1.64826E-5
1-165651388-G-A p.Pro183Leu missense ALDH9A1 1 80986 1.23478E-5 40493 0 3.97918E-6
1-165651419-C-T p.Val173Ile missense ALDH9A1 1 80878 1.23643E-5 40439 0 8.24198E-6
1-165651450-C-T p.Ser162Ser synonymous ALDH9A1 2 80754 2.47666E-5 40377 0 5.7711E-5
1-165651451-G-A p.Ser162Leu missense ALDH9A1 5 80742 6.19256E-5 40371 0 3.18512E-5
1-165651457-C-T p.Gly160Asp missense ALDH9A1 3 80688 3.71802E-5 40344 0 3.18431E-5
1-165651460-G-A p.Pro159Leu missense ALDH9A1 2 80682 2.47887E-5 40341 0 3.98502E-6
1-165651478-C-A p.Gly153Val missense+splice_region ALDH9A1 2 80430 2.48663E-5 40215 0 1.0731E-4
1-165651485-G-T c.458-7C>A splice_region ALDH9A1 1 80198 1.24691E-5 40099 0 NA
1-165652224-T-C p.Met151Val missense ALDH9A1 1 80754 1.23833E-5 40377 0 1.992E-5
1-165652232-G-T p.Ala148Asp missense ALDH9A1 1 80774 1.23802E-5 40387 0 NA
1-165652239-C-A p.Gly146Cys missense ALDH9A1 1 80794 1.23772E-5 40397 0 NA
1-165652240-C-T p.Ala145Ala synonymous ALDH9A1 1 80794 1.23772E-5 40397 0 8.25928E-6
1-165652241-G-A p.Ala145Val missense ALDH9A1 7 80792 8.66422E-5 40396 0 0.00100705
1-165652244-T-C p.Tyr144Cys missense ALDH9A1 2 80832 2.47427E-5 40416 0 3.18532E-5
1-165652261-C-T p.Trp138* stop_gained ALDH9A1 1 80832 1.23713E-5 40416 0 8.24321E-6
1-165652272-C-T p.Asp135Asn missense ALDH9A1 13 80854 1.60784E-4 40427 0 5.88877E-4
1-165652272-CA-TG p.IleAsp134IleAsn missense ALDH9A1 1 80854 1.2368E-5 40427 0 NA
1-165652272-CA-AG p.IleAsp134IleTyr missense ALDH9A1 1 80854 1.2368E-5 40427 0 NA
1-165652273-A-G p.Ile134Ile synonymous ALDH9A1 54381 80506 0.67549 40253 18554 0.722148
1-165652283-C-T p.Arg131His missense ALDH9A1 35 80840 4.32954E-4 40420 0 6.25E-4
1-165652284-G-A p.Arg131Cys missense ALDH9A1 3 80844 3.71085E-5 40422 0 4.3771E-5
1-165652296-T-G p.Ile127Leu missense ALDH9A1 1 80834 1.2371E-5 40417 0 NA
1-165652301-T-C p.Lys125Arg missense ALDH9A1 8 80832 9.89707E-5 40416 0 4.77521E-5
1-165652301-T-G p.Lys125Thr missense ALDH9A1 4 80832 4.94854E-5 40416 0 2.63604E-4
1-165652324-A-G p.Thr117Thr synonymous ALDH9A1 1 80760 1.23824E-5 40380 0 2.78585E-5
1-165652325-G-A p.Thr117Ile missense ALDH9A1 1 80754 1.23833E-5 40377 0 1.81231E-4
1-165652327-A-G p.Ala116Ala synonymous ALDH9A1 3 80754 3.71499E-5 40377 0 6.25E-4
1-165652328-G-A p.Ala116Val missense ALDH9A1 1 80752 1.23836E-5 40376 0 NA
1-165652332-T-C p.Ile115Val missense ALDH9A1 1 80732 1.23867E-5 40366 0 NA
1-165652337-T-C p.Asp113Gly missense ALDH9A1 1 80698 1.23919E-5 40349 0 2.47186E-5
1-165652340-T-C p.Glu112Gly missense ALDH9A1 1 80688 1.23934E-5 40344 0 NA
1-165652343-C-T p.Arg111Gln missense ALDH9A1 41 80672 5.08231E-4 40336 1 0.00157307
1-165652344-G-A p.Arg111Trp missense ALDH9A1 7 80660 8.6784E-5 40330 0 9.88924E-5
1-165652346-T-A p.Glu110Val missense+splice_region ALDH9A1 2 80652 2.47979E-5 40326 0 8.24076E-6
1-165652348-C-CCTTATTATCCTGGCAGCCTCCAAAAGGATTCGGCAACGCTCCATGCCAGAT c.328-2_328-1insATCTGGCATGGAGCGTTGCCGAATCCTTTTGGAGGCTGCCAGGATAATAAG splice_acceptor ALDH9A1 2 80658 2.47961E-5 40329 1 NA
1-165652348-C-CCTTATTATCCTGGCAGCCTCCAAAAGGATTCGGCAACGCTCCATGCCAGATT c.328-2_328-1insAATCTGGCATGGAGCGTTGCCGAATCCTTTTGGAGGCTGCCAGGATAATAAG splice_acceptor ALDH9A1 4 80658 4.95921E-5 40329 2 NA
1-165664486-T-C c.327+3A>G splice_region ALDH9A1 1 80806 1.23753E-5 40403 0 NA
1-165664500-T-C p.Arg106Gly missense ALDH9A1 1 80906 1.236E-5 40453 0 NA
1-165664503-CA-AG p.AlaAla104AlaSer missense ALDH9A1 1 80900 1.23609E-5 40450 0 NA
1-165664506-C-G p.Ala104Pro missense ALDH9A1 1 80900 1.23609E-5 40450 0 NA
1-165664520-C-T p.Arg99Gln missense ALDH9A1 4 81006 4.93791E-5 40503 0 1.64859E-5
1-165664521-G-A p.Arg99* stop_gained ALDH9A1 2 81016 2.46865E-5 40508 0 4.02084E-6
1-165664523-CA-C p.Cys98fs frameshift ALDH9A1 1 81016 1.23432E-5 40508 0 8.24198E-6
1-165664526-C-T p.Arg97His missense ALDH9A1 6 81022 7.4054E-5 40511 0 5.03525E-4
1-165664526-C-G p.Arg97Pro missense ALDH9A1 2 81022 2.46847E-5 40511 0 NA
1-165664527-G-A p.Arg97Cys missense ALDH9A1 2 81022 2.46847E-5 40511 0 6.25E-4
1-165664535-C-T p.Gly94Asp missense ALDH9A1 1 81022 1.23423E-5 40511 0 3.99402E-6
1-165664551-A-G p.Trp89Arg missense ALDH9A1 5 81004 6.17253E-5 40502 0 3.99307E-5
1-165664552-T-C p.Ile88Met missense ALDH9A1 25 80998 3.0865E-4 40499 0 0.00108342
1-165664592-ACTTCCTTTTCTC-A p.Gly71_Glu74del disruptive_inframe_deletion ALDH9A1 2 80934 2.47115E-5 40467 0 NA
1-165664594-T-C p.Glu74Glu synonymous ALDH9A1 1 80940 1.23548E-5 40470 0 NA
1-165664611-A-G p.Cys69Arg missense ALDH9A1 1 80888 1.23628E-5 40444 0 2.02682E-5
1-165664612-T-C p.Thr68Thr synonymous ALDH9A1 1 80870 1.23655E-5 40435 0 1.61354E-5
1-165664614-T-A p.Thr68Ser missense ALDH9A1 9 80854 1.11312E-4 40427 0 0.00302115
1-165664614-T-C p.Thr68Ala missense ALDH9A1 1 80854 1.2368E-5 40427 0 2.47987E-5
1-165664631-C-T p.Arg62Gln missense ALDH9A1 17 80754 2.10516E-4 40377 0 1.59388E-4
1-165664632-G-A p.Arg62* stop_gained ALDH9A1 1 80706 1.23907E-5 40353 0 3.3355E-5
1-165664633-G-A p.Gly61Gly splice_region+synonymous ALDH9A1 1 80696 1.23922E-5 40348 0 8.34028E-6
1-165664640-A-C c.182-6T>G splice_region ALDH9A1 1 80648 1.23996E-5 40324 0 4.40149E-6
1-165667481-C-T n.291+6G>A splice_region ALDH9A1 2 52144 3.83553E-5 26072 0 NA
1-165667486-C-T n.291+1G>A splice_donor ALDH9A1 2 53968 3.7059E-5 26984 0 NA
1-165667519-A-C c.-134T>G 5_prime_UTR_premature_start_codon_gain ALDH9A1 1 64412 1.55251E-5 32206 0 NA
1-165667541-G-C c.-156C>G 5_prime_UTR_premature_start_codon_gain ALDH9A1 3 70020 4.28449E-5 35010 0 NA
1-165667607-G-A c.181+8C>T splice_region ALDH9A1 4 76080 5.25762E-5 38040 0 NA
1-165667614-C-G c.181+1G>C splice_donor ALDH9A1 11 76198 1.44361E-4 38099 0 6.04941E-4
1-165667614-C-A c.181+1G>T splice_donor ALDH9A1 1 76198 1.31237E-5 38099 0 NA
1-165667616-G-A p.Thr60Thr splice_region+synonymous ALDH9A1 1 76184 1.31261E-5 38092 0 8.99539E-6
1-165667631-A-G p.Ala55Ala synonymous ALDH9A1 3 75810 3.95726E-5 37905 0 NA
1-165667638-T-C p.Glu53Gly missense ALDH9A1 3 75564 3.97014E-5 37782 0 NA
1-165667640-G-C p.Thr52Thr synonymous ALDH9A1 2 75460 2.65041E-5 37730 0 2.69799E-5
1-165667669-G-A p.Arg43Cys missense ALDH9A1 1 76312 1.31041E-5 38156 0 4.24621E-6
1-165667670-G-C p.Ala42Ala synonymous ALDH9A1 2 76450 2.61609E-5 38225 0 8.89094E-6
1-165667670-G-A p.Ala42Ala synonymous ALDH9A1 3 76450 3.92413E-5 38225 0 3.81259E-5
1-165667671-G-A p.Ala42Val missense ALDH9A1 1 76360 1.30959E-5 38180 0 5.94525E-5
1-165667676-G-A p.Gly40Gly synonymous ALDH9A1 1 76712 1.30358E-5 38356 0 NA
1-165667678-C-T p.Gly40Ser missense ALDH9A1 2 76914 2.60031E-5 38457 0 4.23212E-6
1-165667686-T-C p.Asn37Ser missense ALDH9A1 14 77802 1.79944E-4 38901 0 1.59357E-4
1-165667691-C-T p.Pro35Pro synonymous ALDH9A1 2 77734 2.57288E-5 38867 0 3.18512E-5
1-165667705-C-T p.Val31Ile missense ALDH9A1 1 77852 1.28449E-5 38926 0 NA
1-165667711-T-C p.Thr29Ala missense ALDH9A1 5 77956 6.41387E-5 38978 0 6.25E-4
1-165667714-C-T p.Gly28Ser missense ALDH9A1 18 78104 2.30462E-4 39052 0 7.64623E-4
1-165667722-A-G p.Met25Thr missense ALDH9A1 1 78040 1.28139E-5 39020 0 NA
1-165667723-T-C p.Met25Val missense ALDH9A1 1 77978 1.28241E-5 38989 0 4.16382E-6
1-165667737-G-A p.Ser20Phe missense ALDH9A1 1 77464 1.29092E-5 38732 0 2.70358E-5
1-165667742-C-A p.Arg18Arg synonymous ALDH9A1 5 76928 6.49958E-5 38464 0 1.2747E-4
1-165667761-G-T p.Pro12Gln missense ALDH9A1 1 75740 1.32031E-5 37870 0 6.37511E-5
1-165667763-G-A p.Ser11Ser synonymous ALDH9A1 1 75602 1.32272E-5 37801 0 9.47795E-6
1-165667767-A-G p.Leu10Pro missense ALDH9A1 1 74762 1.33758E-5 37381 0 NA
1-165667768-G-C p.Leu10Val missense ALDH9A1 1 74780 1.33726E-5 37390 0 1.93412E-5
1-165667769-C-G p.Ala9Ala synonymous ALDH9A1 4 74434 5.37389E-5 37217 0 1.27689E-4
1-165667770-G-C p.Ala9Gly missense ALDH9A1 215 74272 0.00289477 37136 1 0.00908174
1-165667773-G-A p.Ala8Val missense ALDH9A1 5 74020 6.75493E-5 37010 0 6.94252E-5
1-165667778-G-A p.Gly6Gly synonymous ALDH9A1 1 73480 1.36091E-5 36740 0 3.18959E-5
1-165667781-T-G p.Ala5Ala synonymous ALDH9A1 15157 71398 0.212289 35699 1699 0.222136
1-165667781-TG-GA p.Ala5Val missense ALDH9A1 1 72764 1.37431E-5 36382 0 NA
1-165667786-G-A p.Arg4* stop_gained ALDH9A1 1 71602 1.39661E-5 35801 0 2.34071E-5
1-165667786-G-C p.Arg4Gly missense ALDH9A1 1 71602 1.39661E-5 35801 0 2.34071E-5
1-165667795-T-G p.Met1? initiator_codon ALDH9A1 649 70116 0.00925609 35058 5 0.0263158
1-165667821-G-A c.-26C>T 5_prime_UTR_premature_start_codon_gain ALDH9A1 1 62402 1.60251E-5 31201 0 3.69344E-5
1-165667980-C-T c.-185G>A 5_prime_UTR_premature_start_codon_gain ALDH9A1 3087 22656 0.136255 11328 2 0.200013