Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-165632293-A-G p.Ala517Ala synonymous ALDH9A1 3 83000 3.61446E-5 41500 0 2.38912E-5
1-165632301-C-CTCCT p.Glu515fs frameshift ALDH9A1 1 83006 1.20473E-5 41503 0 NA
1-165632301-C-T p.Glu515Lys missense ALDH9A1 1 83006 1.20473E-5 41503 0 NA
1-165632311-C-T p.Met511Ile missense ALDH9A1 1 83008 1.2047E-5 41504 0 NA
1-165632316-CCA-C p.Val509fs frameshift ALDH9A1 1 83002 1.20479E-5 41501 0 3.98295E-6
1-165632325-C-T p.Val507Met missense ALDH9A1 1 82984 1.20505E-5 41492 0 6.36983E-5
1-165632339-G-A p.Ser502Leu missense ALDH9A1 1 83018 1.20456E-5 41509 0 NA
1-165632342-T-A p.Tyr501Phe missense ALDH9A1 2 83018 2.40912E-5 41509 0 5.7691E-5
1-165632347-T-C p.Glu499Glu synonymous ALDH9A1 1 83016 1.20459E-5 41508 0 NA
1-165632349-C-T p.Glu499Lys missense ALDH9A1 2 83008 2.40941E-5 41504 0 8.24158E-6
1-165632349-C-A p.Glu499* stop_gained ALDH9A1 1 83008 1.2047E-5 41504 0 8.24158E-6
1-165632350-G-A p.Ile498Ile synonymous ALDH9A1 8 83006 9.63786E-5 41503 0 9.55475E-5
1-165632352-T-C p.Ile498Val missense ALDH9A1 4 82980 4.82044E-5 41490 0 1.27389E-4
1-165632358-C-T p.Val496Met missense ALDH9A1 2 82974 2.41039E-5 41487 0 3.98289E-6
1-165632360-C-T p.Arg495His missense ALDH9A1 26 82946 3.13457E-4 41473 1 0.00151057
1-165632361-G-A p.Arg495Cys missense ALDH9A1 1 82928 1.20587E-5 41464 0 2.78838E-5
1-165632365-G-A p.Asn493Asn synonymous ALDH9A1 3 82914 3.61821E-5 41457 0 1.07201E-4
1-165632367-T-C p.Asn493Asp missense ALDH9A1 1 82894 1.20636E-5 41447 0 NA
1-165632380-T-C p.Gly488Gly splice_region+synonymous ALDH9A1 1 82842 1.20712E-5 41421 0 7.96895E-6
1-165632384-G-GACTTCTTATATCCACC c.1463-4_1463-3insGGTGGATATAAGAAGT splice_region ALDH9A1 4 82816 4.82998E-5 41408 2 NA
1-165632386-AAGG-A c.1463-8_1463-6delCCT splice_region ALDH9A1 1 82790 1.20788E-5 41395 0 1.1955E-5
1-165632389-G-A c.1463-8C>T splice_region ALDH9A1 1 82786 1.20793E-5 41393 0 6.36902E-5
1-165634252-C-T c.1462+3G>A splice_region ALDH9A1 68 83232 8.16993E-4 41616 0 0.00175215
1-165634254-C-A c.1462+1G>T splice_donor ALDH9A1 1 83264 1.201E-5 41632 0 7.95931E-6
1-165634279-G-A p.Pro480Ser missense ALDH9A1 1 83318 1.20022E-5 41659 0 3.18613E-5
1-165634281-A-G p.Leu479Ser missense ALDH9A1 1 83308 1.20036E-5 41654 0 NA
1-165634297-C-T p.Val474Ile missense ALDH9A1 1 83312 1.20031E-5 41656 0 3.97845E-6
1-165634298-G-A p.Asn473Asn synonymous ALDH9A1 5 83318 6.0011E-5 41659 0 1.59166E-4
1-165634302-T-C p.Tyr472Cys missense ALDH9A1 81 83298 9.72412E-4 41649 0 0.0025
1-165634319-C-T p.Thr466Thr synonymous ALDH9A1 2 83194 2.40402E-5 41597 0 4.95033E-5
1-165634320-G-A p.Thr466Met missense ALDH9A1 1 83204 1.20187E-5 41602 0 3.97985E-6
1-165634334-C-T p.Glu461Glu synonymous ALDH9A1 1 83160 1.2025E-5 41580 0 4.37933E-5
1-165634336-C-T p.Glu461Lys missense ALDH9A1 1015 83120 0.0122113 41560 15 0.045625
1-165634349-A-G p.His456His synonymous ALDH9A1 1 83072 1.20378E-5 41536 0 NA
1-165634356-C-T p.Arg454Gln missense ALDH9A1 2 82968 2.41057E-5 41484 0 1.27673E-4
1-165634357-G-A p.Arg454Trp missense ALDH9A1 1 82980 1.20511E-5 41490 0 3.19081E-5
1-165634358-T-C p.Gln453Gln synonymous ALDH9A1 16 82986 1.92804E-4 41493 0 2.48488E-4
1-165634366-C-A p.Asp451Tyr missense+splice_region ALDH9A1 1 82906 1.20619E-5 41453 0 NA
1-165636541-CA-C c.1349+4delT splice_region ALDH9A1 2 82506 2.42407E-5 41253 0 8.30523E-6
1-165636543-T-C c.1349+3A>G splice_region ALDH9A1 1 82534 1.21162E-5 41267 0 NA
1-165636543-T-A c.1349+3A>T splice_region ALDH9A1 2 82534 2.42324E-5 41267 0 3.99052E-6
1-165636544-A-C c.1349+2T>G splice_donor ALDH9A1 1 82548 1.21142E-5 41274 0 NA
1-165636547-T-A p.Arg450Trp missense+splice_region ALDH9A1 1 82582 1.21092E-5 41291 0 NA
1-165636548-G-A p.Thr449Thr splice_region+synonymous ALDH9A1 4 82580 4.84379E-5 41290 0 6.25E-4
1-165636556-C-T p.Val447Ile missense ALDH9A1 1 82654 1.20986E-5 41327 0 6.25E-4
1-165636557-G-A p.Gly446Gly synonymous ALDH9A1 2 82666 2.41937E-5 41333 0 1.65868E-5
1-165636560-A-G p.Ala445Ala synonymous ALDH9A1 23 82694 2.78134E-4 41347 0 0.00100705
1-165636562-C-T p.Ala445Thr missense ALDH9A1 2 82696 2.4185E-5 41348 0 NA
1-165636585-T-C p.Asn437Ser missense ALDH9A1 2 82832 2.41453E-5 41416 0 NA
1-165636592-T-C p.Arg435Gly missense ALDH9A1 2 82864 2.41359E-5 41432 0 NA
1-165636610-C-T p.Glu429Lys missense ALDH9A1 5 82922 6.02976E-5 41461 0 8.2813E-6
1-165636617-A-C p.Phe426Leu missense ALDH9A1 2 82954 2.41097E-5 41477 0 5.03525E-4
1-165636623-TA-T p.Leu424fs frameshift ALDH9A1 1 82946 1.2056E-5 41473 0 NA
1-165636666-G-A p.Thr410Ile missense ALDH9A1 1 82730 1.20875E-5 41365 0 3.18512E-5
1-165636674-G-A p.Asp407Asp synonymous ALDH9A1 7 82634 8.47109E-5 41317 0 2.99182E-4
1-165636687-G-A p.Thr403Ile missense+splice_region ALDH9A1 1 82434 1.21309E-5 41217 0 4.00304E-6
1-165636695-C-T c.1208-8G>A splice_region ALDH9A1 2 82236 2.43202E-5 41118 0 NA
1-165638162-C-G c.1207+1G>C splice_donor ALDH9A1 1 82802 1.2077E-5 41401 0 NA
1-165638179-C-A p.Met397Ile missense ALDH9A1 1 82934 1.20578E-5 41467 0 NA
1-165638184-A-AAT p.Tyr396fs frameshift ALDH9A1 2 82960 2.4108E-5 41480 0 NA
1-165638189-C-A p.Gly394Val missense ALDH9A1 1 82988 1.20499E-5 41494 0 NA
1-165638192-T-C p.Asp393Gly missense ALDH9A1 46 82992 5.5427E-4 41496 0 3.2299E-4
1-165638222-A-G p.Ile383Thr missense ALDH9A1 1 83018 1.20456E-5 41509 0 NA
1-165638226-C-T p.Asp382Asn missense ALDH9A1 2 83032 2.40871E-5 41516 0 3.99923E-6
1-165638233-A-G p.Cys379Cys synonymous ALDH9A1 2 83058 2.40796E-5 41529 0 1.20962E-5
1-165638239-C-G p.Val377Val synonymous ALDH9A1 1 83052 1.20406E-5 41526 0 NA
1-165638244-T-C p.Lys376Glu missense ALDH9A1 2 83056 2.40801E-5 41528 0 1.70593E-5
1-165638248-A-T p.Gly374Gly splice_region+synonymous ALDH9A1 1 83064 1.20389E-5 41532 0 4.36323E-6
1-165638254-C-A c.1120-4G>T splice_region ALDH9A1 2 83038 2.40854E-5 41519 0 4.48487E-6
1-165638255-C-T c.1120-5G>A splice_region ALDH9A1 7 83012 8.43252E-5 41506 0 1.80127E-5
1-165638256-G-A c.1120-6C>T splice_region ALDH9A1 122 83020 0.00146953 41510 1 8.07849E-4
1-165638507-T-C p.Lys371Glu missense ALDH9A1 1 83326 1.20011E-5 41663 0 1.24018E-5
1-165638511-CACTTTG-C p.Lys368_Val369del disruptive_inframe_deletion ALDH9A1 2 83324 2.40027E-5 41662 0 NA
1-165638519-C-A p.Val367Phe missense ALDH9A1 1 83334 1.19999E-5 41667 0 NA
1-165638528-G-C p.Leu364Val missense ALDH9A1 1 83348 1.19979E-5 41674 0 7.5198E-5
1-165638533-C-T p.Arg362Gln missense ALDH9A1 3 83350 3.59928E-5 41675 0 4.07395E-6
1-165638548-C-T p.Arg357Gln missense ALDH9A1 138 83344 0.00165579 41672 3 0.010574
1-165638549-G-T p.Arg357Arg synonymous ALDH9A1 1 83348 1.19979E-5 41674 0 3.99071E-6
1-165638558-G-A p.Leu354Phe missense ALDH9A1 2 83350 2.39952E-5 41675 0 9.55353E-5
1-165638558-G-T p.Leu354Ile missense ALDH9A1 1 83350 1.19976E-5 41675 0 NA
1-165638572-G-A p.Thr349Ile missense ALDH9A1 2 83356 2.39935E-5 41678 0 NA
1-165638605-C-T p.Arg338Lys missense ALDH9A1 1 83300 1.20048E-5 41650 0 3.98004E-6
1-165638626-T-G p.Glu331Ala missense ALDH9A1 1 83222 1.20161E-5 41611 0 NA
1-165638634-A-T p.Phe328Leu missense ALDH9A1 1 83198 1.20195E-5 41599 0 NA
1-165638635-A-C p.Phe328Cys missense ALDH9A1 44 83196 5.28872E-4 41598 0 0.00100705
1-165638649-T-C p.Glu323Glu synonymous ALDH9A1 4 83142 4.81105E-5 41571 0 4.38631E-5
1-165638651-C-A p.Glu323* stop_gained ALDH9A1 1 83122 1.20305E-5 41561 0 1.19662E-5
1-165638656-T-G p.Gln321Pro missense ALDH9A1 1 83094 1.20346E-5 41547 0 NA
1-165638662-A-G p.Phe319Ser missense ALDH9A1 1 83068 1.20383E-5 41534 0 NA
1-165638663-A-G p.Phe319Leu missense ALDH9A1 2 83064 2.40778E-5 41532 0 3.99249E-6
1-165638665-A-G p.Val318Ala missense ALDH9A1 1 83046 1.20415E-5 41523 0 8.00083E-6
1-165638671-G-A p.Thr316Ile missense ALDH9A1 1 82998 1.20485E-5 41499 0 NA
1-165638672-T-C p.Thr316Ala missense ALDH9A1 1 82996 1.20488E-5 41498 0 8.52428E-6
1-165638681-A-G p.Cys313Arg missense ALDH9A1 2 82894 2.41272E-5 41447 0 3.1837E-5
1-165638682-GC-TT p.Cys312* stop_gained ALDH9A1 1 82874 1.20665E-5 41437 0 NA
1-165638687-C-A p.Val311Phe missense+splice_region ALDH9A1 3 82754 3.6252E-5 41377 0 5.03525E-4
1-165638689-T-TGGCCTTGTGTGAGGAAGTTGGCCATCAGCGCCCCCTTTACAGCATTGTTC c.931-3_931-2insGAACAATGCTGTAAAGGGGGCGCTGATGGCCAACTTCCTCACACAAGGCC splice_region ALDH9A1 2 82746 2.41704E-5 41373 1 NA
1-165648688-T-A p.Thr307Thr synonymous ALDH9A1 1 82748 1.20849E-5 41374 0 NA
1-165648688-T-C p.Thr307Thr synonymous ALDH9A1 1 82748 1.20849E-5 41374 0 1.65085E-5
1-165648697-G-C p.Asn304Lys missense ALDH9A1 2 82830 2.41458E-5 41415 0 8.76124E-5
1-165648709-C-T p.Ala300Ala synonymous ALDH9A1 6259 82758 0.0756302 41379 258 0.120625
1-165648710-G-A p.Ala300Val missense ALDH9A1 1625 82912 0.0195991 41456 31 0.038125
1-165648715-C-A p.Lys298Asn missense ALDH9A1 1 82988 1.20499E-5 41494 0 8.24144E-6
1-165648731-A-T p.Met293Lys missense ALDH9A1 1 83098 1.2034E-5 41549 0 1.64802E-5
1-165648736-A-G p.Cys291Cys synonymous ALDH9A1 1 83132 1.20291E-5 41566 0 NA
1-165648738-A-T p.Cys291Ser missense ALDH9A1 3 83142 3.60828E-5 41571 0 NA
1-165648739-G-A p.Asp290Asp synonymous ALDH9A1 3 83126 3.60898E-5 41563 0 3.29549E-5
1-165648748-G-C p.Ile287Met missense ALDH9A1 1 83176 1.20227E-5 41588 0 3.1841E-5
1-165648750-T-C p.Ile287Val missense ALDH9A1 9 83174 1.08207E-4 41587 0 7.16076E-5
1-165648775-T-G p.Glu278Asp missense ALDH9A1 1 83172 1.20233E-5 41586 0 NA
1-165648781-G-A p.Thr276Thr synonymous ALDH9A1 2 83158 2.40506E-5 41579 0 3.97842E-6
1-165648795-T-C p.Ile272Val missense ALDH9A1 3 83104 3.60993E-5 41552 0 0.00136917
1-165648799-T-C p.Lys270Lys synonymous ALDH9A1 1 83094 1.20346E-5 41547 0 NA
1-165648801-T-C p.Lys270Glu missense ALDH9A1 3 83080 3.61098E-5 41540 0 9.55231E-5
1-165648813-C-T p.Glu266Lys missense ALDH9A1 1 83000 1.20482E-5 41500 0 NA
1-165648822-T-TCATGCCAGTGGGCACACTTCCAGTGAAGGAGACTTTGGCCACATCG c.790-4_790-3insCGATGTGGCCAAAGTCTCCTTCACTGGAAGTGTGCCCACTGGCATG splice_region ALDH9A1 2 82950 2.41109E-5 41475 1 NA
1-165649717-T-C c.789+7A>G splice_region ALDH9A1 7 81760 8.56164E-5 40880 0 0.00125
1-165649719-C-T c.789+5G>A splice_region ALDH9A1 4 81916 4.88305E-5 40958 0 8.01166E-6
1-165649731-C-T p.Gly261Asp missense ALDH9A1 2 82364 2.42825E-5 41182 0 3.99575E-6
1-165649735-T-G p.Thr260Pro missense ALDH9A1 2 82454 2.42559E-5 41227 0 3.18431E-5
1-165649735-T-C p.Thr260Ala missense ALDH9A1 1 82454 1.2128E-5 41227 0 3.99345E-6
1-165649746-C-G p.Gly256Ala missense ALDH9A1 1 82616 1.21042E-5 41308 0 1.19703E-5
1-165649749-G-A p.Thr255Ile missense ALDH9A1 1 82662 1.20975E-5 41331 0 3.1839E-5
1-165649750-TG-T p.Phe254fs frameshift ALDH9A1 1 82676 1.20954E-5 41338 0 NA
1-165649757-G-A p.Val252Val synonymous ALDH9A1 1 82752 1.20843E-5 41376 0 NA
1-165649759-CTT-C p.Lys251fs frameshift ALDH9A1 1 82794 1.20782E-5 41397 0 1.65832E-5
1-165649760-T-G p.Lys251Asn missense ALDH9A1 3 82800 3.62319E-5 41400 0 NA
1-165649763-G-A p.Ala250Ala synonymous ALDH9A1 2 82826 2.4147E-5 41413 0 3.18532E-5
1-165649769-A-G p.Asp248Asp synonymous ALDH9A1 1 82932 1.20581E-5 41466 0 NA
1-165649771-C-T p.Asp248Asn missense ALDH9A1 16 82938 1.92915E-4 41469 0 9.93674E-5
1-165649772-G-A p.Pro247Pro synonymous ALDH9A1 2 82958 2.41086E-5 41479 0 5.57667E-5
1-165649784-C-T p.Leu243Leu synonymous ALDH9A1 1 83110 1.20322E-5 41555 0 0.0020141
1-165649790-C-G p.Gln241His missense ALDH9A1 2 83142 2.40552E-5 41571 0 NA
1-165649797-G-GT p.Thr239fs frameshift ALDH9A1 1 83148 1.20267E-5 41574 0 NA
1-165649797-G-C p.Thr239Arg missense ALDH9A1 1 83148 1.20267E-5 41574 0 1.194E-5
1-165649807-C-G p.Gly236Arg missense ALDH9A1 1 83202 1.20189E-5 41601 0 NA
1-165649813-G-A p.Gln234* stop_gained ALDH9A1 5 83216 6.00846E-5 41608 0 6.60349E-5
1-165649814-C-T p.Val233Val synonymous ALDH9A1 2 83216 2.40338E-5 41608 0 1.19373E-5
1-165649821-T-C p.Asn231Ser missense ALDH9A1 2 83236 2.40281E-5 41618 0 1.19361E-5
1-165649836-G-C p.Pro226Arg missense ALDH9A1 1 83268 1.20094E-5 41634 0 1.64973E-5
1-165649841-A-C p.Gly224Gly synonymous ALDH9A1 18 83294 2.16102E-4 41647 0 0.00251762
1-165649845-G-T p.Ala223Asp missense ALDH9A1 3 83316 3.60075E-5 41658 0 1.98943E-5
1-165649851-C-G p.Ser221Thr missense ALDH9A1 1039 83328 0.0124688 41664 30 0.0236657
1-165649854-T-C p.Tyr220Cys missense ALDH9A1 6 83346 7.19891E-5 41673 0 1.07195E-4
1-165649860-T-G p.Glu218Ala missense ALDH9A1 26 83352 3.1193E-4 41676 0 0.001875
1-165649864-C-T p.Ala217Thr missense ALDH9A1 1 83352 1.19973E-5 41676 0 NA
1-165649868-T-A p.Leu215Leu synonymous ALDH9A1 2 83356 2.39935E-5 41678 0 3.18532E-5
1-165649868-T-G p.Leu215Leu synonymous ALDH9A1 2 83356 2.39935E-5 41678 0 NA
1-165649887-G-A p.Thr209Ile missense ALDH9A1 2 83342 2.39975E-5 41671 0 1.65155E-5
1-165649904-A-G p.Phe203Phe synonymous ALDH9A1 1 83300 1.20048E-5 41650 0 NA
1-165649913-G-A p.Ala200Ala synonymous ALDH9A1 1 83256 1.20111E-5 41628 0 9.17202E-5
1-165649916-A-G p.Asn199Asn synonymous ALDH9A1 1 83240 1.20135E-5 41620 0 8.34948E-6
1-165649921-C-CACAGGCTAA c.593-2_593-1insTTAGCCTGT splice_acceptor ALDH9A1 6 83234 7.20859E-5 41617 2 NA
1-165649926-T-C c.593-6A>G splice_region ALDH9A1 1 83194 1.20201E-5 41597 0 NA
1-165651351-T-C p.Leu195Leu synonymous ALDH9A1 5 83340 5.99952E-5 41670 0 5.77815E-5
1-165651355-G-A p.Ala194Val missense ALDH9A1 5 83334 5.99995E-5 41667 0 6.25E-4
1-165651363-C-T p.Ser191Ser synonymous ALDH9A1 1 83340 1.1999E-5 41670 0 6.36902E-5
1-165651364-G-A p.Ser191Leu missense ALDH9A1 8 83340 9.59923E-5 41670 0 6.36943E-5
1-165651374-A-G p.Ser188Pro missense ALDH9A1 4 83316 4.801E-5 41658 0 1.98983E-5
1-165651386-A-C p.Phe184Val missense ALDH9A1 1 83312 1.20031E-5 41656 0 1.64826E-5
1-165651388-G-A p.Pro183Leu missense ALDH9A1 1 83302 1.20045E-5 41651 0 3.97918E-6
1-165651419-C-T p.Val173Ile missense ALDH9A1 1 83194 1.20201E-5 41597 0 8.24198E-6
1-165651450-C-T p.Ser162Ser synonymous ALDH9A1 2 83070 2.40761E-5 41535 0 5.7711E-5
1-165651451-G-A p.Ser162Leu missense ALDH9A1 5 83058 6.01989E-5 41529 0 3.18512E-5
1-165651457-C-T p.Gly160Asp missense ALDH9A1 3 83002 3.61437E-5 41501 0 3.18431E-5
1-165651460-G-A p.Pro159Leu missense ALDH9A1 2 82996 2.40975E-5 41498 0 3.98502E-6
1-165651478-C-A p.Gly153Val missense+splice_region ALDH9A1 2 82748 2.41698E-5 41374 0 1.0731E-4
1-165651485-G-T c.458-7C>A splice_region ALDH9A1 1 82516 1.21189E-5 41258 0 NA
1-165652224-T-C p.Met151Val missense ALDH9A1 1 83054 1.20404E-5 41527 0 1.992E-5
1-165652232-G-T p.Ala148Asp missense ALDH9A1 1 83078 1.20369E-5 41539 0 NA
1-165652239-C-A p.Gly146Cys missense ALDH9A1 1 83096 1.20343E-5 41548 0 NA
1-165652240-C-T p.Ala145Ala synonymous ALDH9A1 1 83094 1.20346E-5 41547 0 8.25928E-6
1-165652241-G-A p.Ala145Val missense ALDH9A1 7 83096 8.42399E-5 41548 0 0.00100705
1-165652244-T-C p.Tyr144Cys missense ALDH9A1 2 83136 2.4057E-5 41568 0 3.18532E-5
1-165652261-C-T p.Trp138* stop_gained ALDH9A1 1 83132 1.20291E-5 41566 0 8.24321E-6
1-165652272-C-T p.Asp135Asn missense ALDH9A1 13 83162 1.56321E-4 41581 0 5.88877E-4
1-165652272-CA-TG p.IleAsp134IleAsn missense ALDH9A1 1 83162 1.20247E-5 41581 0 NA
1-165652272-CA-AG p.IleAsp134IleTyr missense ALDH9A1 1 83162 1.20247E-5 41581 0 NA
1-165652273-A-G p.Ile134Ile synonymous ALDH9A1 56036 82794 0.676812 41397 19170 0.722148
1-165652283-C-T p.Arg131His missense ALDH9A1 36 83154 4.32932E-4 41577 0 6.25E-4
1-165652284-G-A p.Arg131Cys missense ALDH9A1 3 83156 3.60768E-5 41578 0 4.3771E-5
1-165652296-T-G p.Ile127Leu missense ALDH9A1 1 83148 1.20267E-5 41574 0 NA
1-165652301-T-C p.Lys125Arg missense ALDH9A1 8 83148 9.6214E-5 41574 0 4.77521E-5
1-165652301-T-G p.Lys125Thr missense ALDH9A1 4 83148 4.8107E-5 41574 0 2.63604E-4
1-165652324-A-G p.Thr117Thr synonymous ALDH9A1 1 83072 1.20378E-5 41536 0 2.78585E-5
1-165652325-G-A p.Thr117Ile missense ALDH9A1 3 83066 3.61159E-5 41533 0 1.81231E-4
1-165652327-A-G p.Ala116Ala synonymous ALDH9A1 3 83066 3.61159E-5 41533 0 6.25E-4
1-165652328-G-A p.Ala116Val missense ALDH9A1 1 83064 1.20389E-5 41532 0 NA
1-165652332-T-C p.Ile115Val missense ALDH9A1 1 83044 1.20418E-5 41522 0 NA
1-165652337-T-C p.Asp113Gly missense ALDH9A1 1 83008 1.2047E-5 41504 0 2.47186E-5
1-165652340-T-C p.Glu112Gly missense ALDH9A1 1 82998 1.20485E-5 41499 0 NA
1-165652343-C-T p.Arg111Gln missense ALDH9A1 43 82982 5.18185E-4 41491 1 0.00157307
1-165652344-G-A p.Arg111Trp missense ALDH9A1 7 82968 8.43699E-5 41484 0 9.88924E-5
1-165652346-T-A p.Glu110Val missense+splice_region ALDH9A1 2 82964 2.41068E-5 41482 0 8.24076E-6
1-165652348-C-CCTTATTATCCTGGCAGCCTCCAAAAGGATTCGGCAACGCTCCATGCCAGAT c.328-2_328-1insATCTGGCATGGAGCGTTGCCGAATCCTTTTGGAGGCTGCCAGGATAATAAG splice_acceptor ALDH9A1 2 82970 2.41051E-5 41485 1 NA
1-165652348-C-CCTTATTATCCTGGCAGCCTCCAAAAGGATTCGGCAACGCTCCATGCCAGATT c.328-2_328-1insAATCTGGCATGGAGCGTTGCCGAATCCTTTTGGAGGCTGCCAGGATAATAAG splice_acceptor ALDH9A1 4 82970 4.82102E-5 41485 2 NA
1-165652350-TTGGG-T c.328-7_328-4delCCCA splice_region ALDH9A1 1 82932 1.20581E-5 41466 0 8.24171E-6
1-165664486-T-C c.327+3A>G splice_region ALDH9A1 1 83114 1.20317E-5 41557 0 NA
1-165664500-T-C p.Arg106Gly missense ALDH9A1 2 83216 2.40338E-5 41608 0 NA
1-165664503-CA-AG p.AlaAla104AlaSer missense ALDH9A1 1 83210 1.20178E-5 41605 0 NA
1-165664506-C-G p.Ala104Pro missense ALDH9A1 1 83214 1.20172E-5 41607 0 NA
1-165664520-C-T p.Arg99Gln missense ALDH9A1 4 83322 4.80065E-5 41661 0 1.64859E-5
1-165664521-G-A p.Arg99* stop_gained ALDH9A1 1 83328 1.20008E-5 41664 0 4.02084E-6
1-165664523-CA-C p.Cys98fs frameshift ALDH9A1 1 83330 1.20005E-5 41665 0 8.24198E-6
1-165664526-C-T p.Arg97His missense ALDH9A1 6 83336 7.19977E-5 41668 0 5.03525E-4
1-165664526-C-G p.Arg97Pro missense ALDH9A1 2 83336 2.39992E-5 41668 0 NA
1-165664527-G-A p.Arg97Cys missense ALDH9A1 2 83336 2.39992E-5 41668 0 6.25E-4
1-165664535-C-T p.Gly94Asp missense ALDH9A1 1 83336 1.19996E-5 41668 0 3.99402E-6
1-165664551-A-G p.Trp89Arg missense ALDH9A1 5 83316 6.00125E-5 41658 0 3.99307E-5
1-165664552-T-C p.Ile88Met missense ALDH9A1 25 83312 3.00077E-4 41656 0 0.00108342
1-165664592-ACTTCCTTTTCTC-A p.Gly71_Glu74del disruptive_inframe_deletion ALDH9A1 2 83248 2.40246E-5 41624 0 NA
1-165664594-T-C p.Glu74Glu synonymous ALDH9A1 1 83254 1.20114E-5 41627 0 NA
1-165664602-C-G p.Glu72Gln missense ALDH9A1 1 83234 1.20143E-5 41617 0 NA
1-165664602-C-T p.Glu72Lys missense ALDH9A1 1 83234 1.20143E-5 41617 0 NA
1-165664611-A-G p.Cys69Arg missense ALDH9A1 1 83204 1.20187E-5 41602 0 2.02682E-5
1-165664612-T-C p.Thr68Thr synonymous ALDH9A1 1 83186 1.20213E-5 41593 0 1.61354E-5
1-165664614-T-A p.Thr68Ser missense ALDH9A1 13 83170 1.56306E-4 41585 0 0.00302115
1-165664614-T-C p.Thr68Ala missense ALDH9A1 1 83170 1.20236E-5 41585 0 2.47987E-5
1-165664631-C-T p.Arg62Gln missense ALDH9A1 17 83068 2.04652E-4 41534 0 1.59388E-4
1-165664632-G-A p.Arg62* stop_gained ALDH9A1 1 83020 1.20453E-5 41510 0 3.3355E-5
1-165664633-G-A p.Gly61Gly splice_region+synonymous ALDH9A1 1 83010 1.20467E-5 41505 0 8.34028E-6
1-165664640-A-C c.182-6T>G splice_region ALDH9A1 1 82964 1.20534E-5 41482 0 4.40149E-6
1-165667481-C-T n.291+6G>A splice_region ALDH9A1 2 53672 3.72634E-5 26836 0 NA
1-165667486-C-T n.291+1G>A splice_donor ALDH9A1 2 55482 3.60477E-5 27741 0 NA
1-165667519-A-C c.-134T>G 5_prime_UTR_premature_start_codon_gain ALDH9A1 1 66016 1.51478E-5 33008 0 NA
1-165667541-G-C c.-156C>G 5_prime_UTR_premature_start_codon_gain ALDH9A1 3 71706 4.18375E-5 35853 0 NA
1-165667607-G-A c.181+8C>T splice_region ALDH9A1 3 78052 3.84359E-5 39026 0 NA
1-165667614-C-G c.181+1G>C splice_donor ALDH9A1 11 78190 1.40683E-4 39095 0 6.04941E-4
1-165667614-C-A c.181+1G>T splice_donor ALDH9A1 1 78190 1.27894E-5 39095 0 NA
1-165667616-G-A p.Thr60Thr splice_region+synonymous ALDH9A1 1 78190 1.27894E-5 39095 0 8.99539E-6
1-165667631-A-G p.Ala55Ala synonymous ALDH9A1 3 77818 3.85515E-5 38909 0 NA
1-165667638-T-C p.Glu53Gly missense ALDH9A1 3 77570 3.86747E-5 38785 0 NA
1-165667640-G-C p.Thr52Thr synonymous ALDH9A1 2 77464 2.58184E-5 38732 0 2.69799E-5
1-165667655-C-G p.Ala47Ala synonymous ALDH9A1 2 77616 2.57679E-5 38808 0 3.58044E-5
1-165667669-G-A p.Arg43Cys missense ALDH9A1 1 78334 1.27658E-5 39167 0 4.24621E-6
1-165667670-G-C p.Ala42Ala synonymous ALDH9A1 2 78478 2.54848E-5 39239 0 8.89094E-6
1-165667670-G-A p.Ala42Ala synonymous ALDH9A1 3 78478 3.82273E-5 39239 0 3.81259E-5
1-165667671-G-A p.Ala42Val missense ALDH9A1 1 78392 1.27564E-5 39196 0 5.94525E-5
1-165667676-G-A p.Gly40Gly synonymous ALDH9A1 1 78744 1.26994E-5 39372 0 NA
1-165667678-C-T p.Gly40Ser missense ALDH9A1 2 78952 2.53318E-5 39476 0 4.23212E-6
1-165667686-T-C p.Asn37Ser missense ALDH9A1 14 79868 1.75289E-4 39934 0 1.59357E-4
1-165667691-C-T p.Pro35Pro synonymous ALDH9A1 2 79790 2.50658E-5 39895 0 3.18512E-5
1-165667705-C-T p.Val31Ile missense ALDH9A1 1 79916 1.25131E-5 39958 0 NA
1-165667711-T-C p.Thr29Ala missense ALDH9A1 5 80030 6.24766E-5 40015 0 6.25E-4
1-165667714-C-T p.Gly28Ser missense ALDH9A1 18 80186 2.24478E-4 40093 0 7.64623E-4
1-165667722-A-G p.Met25Thr missense ALDH9A1 1 80118 1.24816E-5 40059 0 NA
1-165667723-T-C p.Met25Val missense ALDH9A1 1 80060 1.24906E-5 40030 0 4.16382E-6
1-165667737-G-A p.Ser20Phe missense ALDH9A1 1 79538 1.25726E-5 39769 0 2.70358E-5
1-165667742-C-A p.Arg18Arg synonymous ALDH9A1 5 79000 6.32911E-5 39500 0 1.2747E-4
1-165667761-G-T p.Pro12Gln missense ALDH9A1 1 77814 1.28512E-5 38907 0 6.37511E-5
1-165667763-G-A p.Ser11Ser synonymous ALDH9A1 1 77678 1.28737E-5 38839 0 9.47795E-6
1-165667767-A-G p.Leu10Pro missense ALDH9A1 1 76824 1.30168E-5 38412 0 NA
1-165667768-G-C p.Leu10Val missense ALDH9A1 1 76838 1.30144E-5 38419 0 1.93412E-5
1-165667769-C-G p.Ala9Ala synonymous ALDH9A1 5 76484 6.53731E-5 38242 0 1.27689E-4
1-165667770-G-C p.Ala9Gly missense ALDH9A1 224 76326 0.00293478 38163 2 0.00908174
1-165667773-G-A p.Ala8Val missense ALDH9A1 5 76062 6.57358E-5 38031 0 6.94252E-5
1-165667778-G-A p.Gly6Gly synonymous ALDH9A1 1 75520 1.32415E-5 37760 0 3.18959E-5
1-165667781-T-G p.Ala5Ala synonymous ALDH9A1 15478 73358 0.210993 36679 1737 0.222136
1-165667781-TG-GA p.Ala5Val missense ALDH9A1 1 74780 1.33726E-5 37390 0 NA
1-165667786-G-A p.Arg4* stop_gained ALDH9A1 1 73592 1.35884E-5 36796 0 2.34071E-5
1-165667786-G-C p.Arg4Gly missense ALDH9A1 1 73592 1.35884E-5 36796 0 2.34071E-5
1-165667795-T-G p.Met1? initiator_codon ALDH9A1 693 72056 0.00961752 36028 5 0.0263158
1-165667821-G-A c.-26C>T 5_prime_UTR_premature_start_codon_gain ALDH9A1 1 64152 1.5588E-5 32076 0 3.69344E-5
1-165667980-C-T c.-185G>A 5_prime_UTR_premature_start_codon_gain ALDH9A1 3107 22754 0.136547 11377 2 0.200013