Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-75516125-T-C p.Ter502Ter stop_retained ALDH1A1 20 81916 2.44153E-4 40958 0 2.86734E-4
9-75516149-A-T p.Val494Glu missense ALDH1A1 3 81780 3.66838E-5 40890 0 NA
9-75516166-C-T p.Glu488Glu synonymous ALDH1A1 11 81484 1.34996E-4 40742 0 7.46009E-5
9-75516184-A-C p.Gly482Gly synonymous ALDH1A1 1 81038 1.23399E-5 40519 0 NA
9-75516186-C-T p.Gly482Ser missense ALDH1A1 1 80952 1.2353E-5 40476 0 4.15076E-5
9-75516196-C-CAGTTCTCTTCCATTTCCAGACATCTTGAATCCACCAAAGGGGCACTGGGCACTTA c.1434-1_1434insTAAGTGCCCAGTGCCCCTTTGGTGGATTCAAGATGTCTGGAAATGGAAGAGAACT splice_acceptor ALDH1A1 2 80606 2.4812E-5 40303 1 NA
9-75516196-C-CAGTTCTCTTCCATTTCCAGACATCTTGAATCCACCAAAGGGGCACTGGGCA c.1434-1_1434insTGCCCAGTGCCCCTTTGGTGGATTCAAGATGTCTGGAAATGGAAGAGAACT splice_acceptor ALDH1A1 4 80604 4.96253E-5 40302 2 NA
9-75516203-A-G c.1434-7T>C splice_region ALDH1A1 2 80218 2.49321E-5 40109 0 4.1658E-6
9-75520867-A-C c.1433+7T>G splice_region ALDH1A1 4 82818 4.82987E-5 41409 0 4.44667E-5
9-75520886-T-C p.Asn474Ser missense ALDH1A1 2 83082 2.40726E-5 41541 0 NA
9-75520927-T-C p.Val460Val synonymous ALDH1A1 3 83228 3.60456E-5 41614 0 NA
9-75520929-C-T p.Val460Ile missense ALDH1A1 2 83222 2.40321E-5 41611 0 2.53919E-5
9-75520932-C-T p.Val459Met missense ALDH1A1 4 83222 4.80642E-5 41611 0 2.80022E-4
9-75520933-G-A p.Gly458Gly synonymous ALDH1A1 5 83206 6.00918E-5 41603 0 3.39685E-5
9-75520948-C-CCACA c.1359-1_1359insTGTG splice_acceptor ALDH1A1 4 83112 4.81278E-5 41556 2 NA
9-75520949-C-CACACTGTTCCTGCCTGCAGAGCAGAGGAGATTGTTATGGCTTTATCAATGTCT c.1359-2_1359-1insAGACATTGATAAAGCCATAACAATCTCCTCTGCTCTGCAGGCAGGAACAGTGT splice_acceptor ALDH1A1 2 83106 2.40657E-5 41553 1 NA
9-75520949-C-CACACTGTTCCTGCCTGCAGAGCAGAGGAGATTGTTATGGCTTTATCAA c.1359-2_1359-1insTTGATAAAGCCATAACAATCTCCTCTGCTCTGCAGGCAGGAACAGTGT splice_acceptor ALDH1A1 2 83106 2.40657E-5 41553 1 NA
9-75520949-C-CACACTGTTCCTGCCTGCAGAGCAGAGGAGATTGTTA c.1359-2_1359-1insTAACAATCTCCTCTGCTCTGCAGGCAGGAACAGTGT splice_acceptor ALDH1A1 2 83106 2.40657E-5 41553 1 NA
9-75520954-GGAAAA-G c.1359-11_1359-7delTTTTC splice_region ALDH1A1 62 83056 7.46484E-4 41528 0 9.73633E-4
9-75524529-T-C p.Ala449Ala synonymous ALDH1A1 1 82940 1.20569E-5 41470 0 8.27664E-6
9-75524540-C-T p.Ala446Thr missense ALDH1A1 22 82920 2.65316E-4 41460 0 4.45831E-4
9-75524551-G-C p.Thr442Arg missense ALDH1A1 1 82868 1.20674E-5 41434 0 NA
9-75524566-A-G p.Ile437Thr missense ALDH1A1 2 82760 2.41663E-5 41380 0 3.18451E-5
9-75524567-T-G p.Ile437Leu missense ALDH1A1 1 82758 1.20834E-5 41379 0 8.2462E-6
9-75524586-T-A p.Ala430Ala synonymous ALDH1A1 1 82642 1.21004E-5 41321 0 1.64924E-5
9-75524595-G-A p.Gly427Gly synonymous ALDH1A1 1 82640 1.21007E-5 41320 0 NA
9-75524604-A-C p.Thr424Thr synonymous ALDH1A1 3 82666 3.62906E-5 41333 0 2.39195E-4
9-75524614-G-C p.Ala421Gly missense ALDH1A1 2 82668 2.41932E-5 41334 0 2.47508E-5
9-75524615-C-A p.Ala421Ser missense ALDH1A1 2 82662 2.41949E-5 41331 0 8.25055E-6
9-75524622-G-A p.Ile418Ile synonymous ALDH1A1 1 82642 1.21004E-5 41321 0 NA
9-75524628-G-A p.Asp416Asp synonymous ALDH1A1 8 82608 9.68429E-5 41304 0 3.18984E-5
9-75524641-T-G p.Lys412Thr missense ALDH1A1 6 82562 7.26727E-5 41281 0 6.3832E-5
9-75524664-T-C p.Pro404Pro synonymous ALDH1A1 39 82270 4.74049E-4 41135 0 9.87387E-4
9-75526866-C-A c.1200+8G>T splice_region ALDH1A1 668 82876 0.00806023 41438 7 0.00716973
9-75526868-A-G c.1200+6T>C splice_region ALDH1A1 2 82944 2.41127E-5 41472 0 1.64837E-5
9-75526877-C-T p.Glu399Glu synonymous ALDH1A1 1 83036 1.2043E-5 41518 0 8.23995E-6
9-75526890-C-A p.Arg395Leu missense ALDH1A1 1 83074 1.20375E-5 41537 0 NA
9-75526891-G-T p.Arg395Ser missense ALDH1A1 1 83084 1.2036E-5 41542 0 3.18532E-5
9-75526891-G-A p.Arg395Cys missense ALDH1A1 1 83084 1.2036E-5 41542 0 4.94364E-5
9-75526897-C-T p.Glu393Lys missense ALDH1A1 2 83120 2.40616E-5 41560 0 1.56544E-4
9-75526909-T-C p.Asn389Asp missense ALDH1A1 2 83206 2.40367E-5 41603 0 4.1195E-5
9-75526951-A-C p.Trp375Gly missense ALDH1A1 1 83210 1.20178E-5 41605 0 NA
9-75526972-G-A p.Leu368Leu synonymous ALDH1A1 2 83228 2.40304E-5 41614 0 8.24321E-6
9-75526981-C-A p.Gly365Trp missense ALDH1A1 1 83202 1.20189E-5 41601 0 NA
9-75526998-T-C p.Glu359Gly missense ALDH1A1 2 83168 2.40477E-5 41584 0 3.18512E-5
9-75527009-A-G p.Leu355Leu synonymous ALDH1A1 2 83154 2.40518E-5 41577 0 8.25614E-6
9-75527019-T-C p.Asp352Gly missense ALDH1A1 1 83126 1.20299E-5 41563 0 6.36821E-5
9-75527045-G-GA c.1036-8_1036-7insT splice_region ALDH1A1 1 82930 1.20584E-5 41465 0 NA
9-75531856-C-T p.Gly339Arg missense ALDH1A1 1 82838 1.20718E-5 41419 0 NA
9-75531875-A-G p.Leu332Leu synonymous ALDH1A1 1 83030 1.20438E-5 41515 0 NA
9-75531879-A-T p.Ile331Asn missense ALDH1A1 1 83056 1.20401E-5 41528 0 NA
9-75531884-C-T p.Lys329Lys synonymous ALDH1A1 2 83090 2.40703E-5 41545 0 NA
9-75531892-C-T p.Ala327Thr missense ALDH1A1 1 83108 1.20325E-5 41554 0 NA
9-75531895-G-A p.Arg326Trp missense ALDH1A1 1 83118 1.20311E-5 41559 0 1.99213E-5
9-75531901-C-T p.Val324Ile missense ALDH1A1 1 83158 1.20253E-5 41579 0 NA
9-75531910-G-T p.Arg321Arg synonymous ALDH1A1 1 83194 1.20201E-5 41597 0 NA
9-75531921-T-A p.Asp317Val missense ALDH1A1 1 83204 1.20187E-5 41602 0 NA
9-75531937-C-T p.Glu312Lys missense ALDH1A1 1 83216 1.20169E-5 41608 0 7.9635E-6
9-75531955-C-T p.Ala306Thr missense ALDH1A1 4 83272 4.80354E-5 41636 0 3.98368E-6
9-75531959-T-A p.Ter231Leuext*? stop_lost ALDH1A1 1 83272 1.20088E-5 41636 0 NA
9-75531988-C-A p.Val295Leu missense ALDH1A1 10 82994 1.20491E-4 41497 0 2.02688E-5
9-75531994-G-T p.His293Asn missense ALDH1A1 1 82874 1.20665E-5 41437 0 NA
9-75531995-G-T p.His292Gln missense ALDH1A1 1 82870 1.20671E-5 41435 0 NA
9-75532009-C-T p.Val288Ile missense ALDH1A1 3 82102 3.65399E-5 41051 0 3.18593E-5
9-75532010-A-G p.Ala287Ala synonymous ALDH1A1 70 82086 8.52764E-4 41043 0 0.001875
9-75532016-G-T p.Asp285Glu missense ALDH1A1 1 81638 1.22492E-5 40819 0 NA
9-75532020-A-AAGTCGGCATCAGCTAACACAATGCAAGGGCTCTTTCCTCCAAG c.851-1_851insCTTGGAGGAAAGAGCCCTTGCATTGTGTTAGCTGATGCCGACT splice_acceptor ALDH1A1 2 79966 2.50106E-5 39983 1 NA
9-75532020-A-AAGTCGGCATCAGCTAACACAATGCAAGGGCTCTTTCCTCCAAGCTCCAGGGTCACC c.851-1_851insGGTGACCCTGGAGCTTGGAGGAAAGAGCCCTTGCATTGTGTTAGCTGATGCCGACT splice_acceptor ALDH1A1 4 79966 5.00213E-5 39983 2 NA
9-75532020-A-AAGTCGGCATCAGCTAACACAATGCAAGGGCTCTTTC c.851-1_851insGAAAGAGCCCTTGCATTGTGTTAGCTGATGCCGACT splice_acceptor ALDH1A1 2 79966 2.50106E-5 39983 1 NA
9-75532020-A-AAGTCGGCATCAG c.851-1_851insCTGATGCCGACT splice_acceptor ALDH1A1 2 79966 2.50106E-5 39983 1 NA
9-75532024-C-T c.851-4G>A splice_region ALDH1A1 2 79482 2.51629E-5 39741 0 1.67521E-4
9-75532025-G-A c.851-5C>T splice_region ALDH1A1 2 79296 2.5222E-5 39648 0 3.35154E-5
9-75533631-C-T c.850+5G>A splice_region ALDH1A1 2 82964 2.41068E-5 41482 0 NA
9-75533638-T-A p.Asp283Val missense+splice_region ALDH1A1 3 83180 3.60664E-5 41590 0 NA
9-75533639-C-T p.Asp283Asn missense ALDH1A1 1 83172 1.20233E-5 41586 0 NA
9-75533640-G-C p.Ala282Ala synonymous ALDH1A1 1 83194 1.20201E-5 41597 0 4.01861E-6
9-75533652-C-G p.Val278Val synonymous ALDH1A1 1 83268 1.20094E-5 41634 0 8.23981E-6
9-75533666-T-C p.Ser274Gly missense ALDH1A1 3 83274 3.60256E-5 41637 0 6.25E-4
9-75533669-T-G p.Lys273Gln missense ALDH1A1 1 83266 1.20097E-5 41633 0 NA
9-75533692-C-T p.Arg265Lys missense ALDH1A1 1 83238 1.20137E-5 41619 0 NA
9-75533712-G-T p.Ala258Ala synonymous ALDH1A1 1 83168 1.20239E-5 41584 0 NA
9-75533712-G-C p.Ala258Ala synonymous ALDH1A1 1 83168 1.20239E-5 41584 0 5.03525E-4
9-75533745-G-C c.748-7C>G splice_region ALDH1A1 1 82770 1.20817E-5 41385 0 4.12562E-5
9-75538765-A-G n.879T>C splice_region ALDH1A1 1 49894 2.00425E-5 24947 0 NA
9-75538930-A-G c.747+5T>C splice_region ALDH1A1 1 82964 1.20534E-5 41482 0 NA
9-75538969-T-G p.Asp238Ala missense ALDH1A1 2 83314 2.40056E-5 41657 0 6.59631E-5
9-75538970-C-T p.Asp238Asn missense ALDH1A1 2 83320 2.40038E-5 41660 0 NA
9-75538984-A-G p.Ile233Thr missense ALDH1A1 1 83336 1.19996E-5 41668 0 NA
9-75538995-T-C p.Ala229Ala synonymous ALDH1A1 2 83336 2.39992E-5 41668 0 NA
9-75539019-A-G p.Ile221Ile synonymous ALDH1A1 1 83346 1.19982E-5 41673 0 NA
9-75539037-AG-A p.Pro215fs frameshift ALDH1A1 1 83318 1.20022E-5 41659 0 NA
9-75539040-A-T p.Phe214Leu missense ALDH1A1 1 83294 1.20057E-5 41647 0 0.00100705
9-75539047-G-A p.Ala212Val missense+splice_region ALDH1A1 2 83276 2.40165E-5 41638 0 NA
9-75540393-G-T c.633+7C>A splice_region ALDH1A1 315 83094 0.00379089 41547 5 0.00780106
9-75540406-T-C p.Ile209Met missense ALDH1A1 1 83130 1.20294E-5 41565 0 3.1841E-5
9-75540415-T-C p.Ala206Ala synonymous ALDH1A1 1 83140 1.20279E-5 41570 0 NA
9-75540417-C-A p.Ala206Ser missense ALDH1A1 1 83142 1.20276E-5 41571 0 NA
9-75540418-C-T p.Val205Val synonymous ALDH1A1 1 83142 1.20276E-5 41571 0 NA
9-75540426-G-A p.Leu203Phe missense+splice_region ALDH1A1 1 83154 1.20259E-5 41577 0 NA
9-75540433-G-C p.Leu200Leu synonymous ALDH1A1 1 83134 1.20288E-5 41567 0 3.98032E-6
9-75540463-C-A p.Val190Val synonymous ALDH1A1 2 83132 2.40581E-5 41566 0 2.38831E-5
9-75540464-A-G p.Val190Ala missense ALDH1A1 1 83122 1.20305E-5 41561 0 1.99008E-5
9-75540468-T-A p.Thr189Ser missense ALDH1A1 1 83130 1.20294E-5 41565 0 NA
9-75540484-T-G p.Ala183Ala synonymous ALDH1A1 27 83130 3.24792E-4 41565 0 3.05059E-4
9-75540493-T-C p.Ile180Met missense ALDH1A1 2 83122 2.4061E-5 41561 0 4.12337E-5
9-75540503-A-G p.Ile177Thr missense ALDH1A1 7 83104 8.42318E-5 41552 0 6.25E-4
9-75540504-T-A p.Ile177Phe missense ALDH1A1 58 83104 6.97921E-4 41552 0 0.00321312
9-75540517-C-T p.Pro172Pro synonymous ALDH1A1 8 83042 9.63368E-5 41521 0 6.25E-4
9-75540534-A-C c.505-6T>G splice_region ALDH1A1 2 82914 2.41214E-5 41457 0 NA
9-75542026-G-A c.504+6C>T splice_region ALDH1A1 9 82708 1.08817E-4 41354 0 3.68783E-5
9-75542051-A-T p.Val162Glu missense ALDH1A1 1 82990 1.20496E-5 41495 0 NA
9-75542052-C-T p.Val162Ile missense ALDH1A1 1 83012 1.20465E-5 41506 0 NA
9-75542067-G-A p.His157Tyr missense ALDH1A1 2 83038 2.40854E-5 41519 0 2.49058E-5
9-75542080-A-T p.Phe152Leu missense ALDH1A1 117 83030 0.00140913 41515 0 0.0033758
9-75542089-T-C p.Gly149Gly synonymous ALDH1A1 1 83022 1.2045E-5 41511 0 NA
9-75542092-A-G p.Asp148Asp splice_region+synonymous ALDH1A1 1 83020 1.20453E-5 41510 0 NA
9-75542093-T-TCAATTGGTATTGTACGGCCCTGGATCTTGTCAGCCCAAC c.443-1_443insGTTGGGCTGACAAGATCCAGGGCCGTACAATACCAATTG splice_acceptor ALDH1A1 2 83014 2.40923E-5 41507 1 NA
9-75543802-A-G c.442+6T>C splice_region ALDH1A1 2 83272 2.40177E-5 41636 0 2.475E-5
9-75543810-A-G p.Ile147Thr missense+splice_region ALDH1A1 1 83310 1.20034E-5 41655 0 6.37146E-5
9-75543811-T-C p.Ile147Val missense ALDH1A1 1 83312 1.20031E-5 41656 0 2.47345E-5
9-75543812-T-C p.Pro146Pro synonymous ALDH1A1 1 83316 1.20025E-5 41658 0 8.2447E-6
9-75543822-C-T p.Arg143His missense ALDH1A1 2 83332 2.40004E-5 41666 0 6.25E-4
9-75543823-G-A p.Arg143Cys missense ALDH1A1 5 83334 5.99995E-5 41667 0 1.64845E-5
9-75543830-G-A p.Ile140Ile synonymous ALDH1A1 1 83338 1.19993E-5 41669 0 NA
9-75543835-T-C p.Lys139Glu missense ALDH1A1 1 83354 1.1997E-5 41677 0 3.97861E-6
9-75543846-C-G p.Gly135Ala missense ALDH1A1 1 83362 1.19959E-5 41681 0 NA
9-75543852-C-G p.Cys133Ser missense ALDH1A1 3 83364 3.59868E-5 41682 0 3.97788E-6
9-75543858-C-T p.Arg131His missense ALDH1A1 3 83350 3.59928E-5 41675 0 6.25E-4
9-75543859-G-A p.Arg131Cys missense ALDH1A1 16 83352 1.91957E-4 41676 0 1.23593E-4
9-75543899-A-G p.Asn117Asn synonymous ALDH1A1 15 83354 1.79955E-4 41677 0 9.55049E-5
9-75543901-T-G p.Asn117His missense ALDH1A1 1 83346 1.19982E-5 41673 0 3.1839E-5
9-75543903-G-A p.Ser116Phe missense ALDH1A1 1 83344 1.19985E-5 41672 0 1.31306E-4
9-75543908-G-C p.Leu114Leu synonymous ALDH1A1 3 83334 3.59997E-5 41667 0 3.29755E-5
9-75543908-G-A p.Leu114Leu synonymous ALDH1A1 1 83334 1.19999E-5 41667 0 6.3678E-5
9-75543924-A-G p.Met109Thr missense ALDH1A1 1 83300 1.20048E-5 41650 0 NA
9-75543927-G-T p.Ser108* stop_gained ALDH1A1 1 83280 1.20077E-5 41640 0 NA
9-75543928-A-T p.Ser108Thr missense ALDH1A1 2 83274 2.40171E-5 41637 0 8.38792E-5
9-75543932-C-T p.Met106Ile missense ALDH1A1 1 83274 1.20085E-5 41637 0 1.20309E-5
9-75543933-A-G p.Met106Thr missense ALDH1A1 1 83262 1.20103E-5 41631 0 6.39304E-5
9-75545795-C-T p.Ala104Ala splice_region+synonymous ALDH1A1 1 82990 1.20496E-5 41495 0 3.29881E-5
9-75545800-G-T p.Leu103Met missense ALDH1A1 5 82976 6.02584E-5 41488 0 3.98318E-6
9-75545803-G-A p.Leu102Leu synonymous ALDH1A1 1 82970 1.20525E-5 41485 0 1.64878E-5
9-75545807-A-G p.Arg100Arg synonymous ALDH1A1 3 82982 3.61524E-5 41491 0 NA
9-75545834-C-T p.Lys91Lys synonymous ALDH1A1 4 82924 4.82369E-5 41462 0 6.36902E-5
9-75545838-T-C p.Tyr90Cys missense ALDH1A1 1 82932 1.20581E-5 41466 0 NA
9-75545839-A-G p.Tyr90His missense ALDH1A1 3 82934 3.61733E-5 41467 0 3.29614E-5
9-75545840-T-A p.Leu89Phe missense ALDH1A1 1 82946 1.2056E-5 41473 0 3.98172E-6
9-75545857-C-G p.Glu84Gln missense ALDH1A1 1 82920 1.20598E-5 41460 0 NA
9-75545857-C-T p.Glu84Lys missense ALDH1A1 1 82920 1.20598E-5 41460 0 NA
9-75545858-G-A p.Ser83Ser synonymous ALDH1A1 3 82916 3.61812E-5 41458 0 NA
9-75545869-T-C p.Met80Val missense ALDH1A1 1 82958 1.20543E-5 41479 0 3.98153E-6
9-75545879-CG-C p.Pro76fs frameshift ALDH1A1 1 82972 1.20523E-5 41486 0 NA
9-75545880-G-T p.Pro76Gln missense ALDH1A1 1 82964 1.20534E-5 41482 0 NA
9-75545882-G-A p.Ser75Ser synonymous ALDH1A1 37348 82670 0.451772 41335 8797 0.475894
9-75545883-G-A p.Ser75Phe missense ALDH1A1 1 82992 1.20494E-5 41496 0 NA
9-75545884-A-C p.Ser75Ala missense ALDH1A1 1 82986 1.20502E-5 41493 0 NA
9-75545889-A-G p.Ile73Thr missense ALDH1A1 1 82998 1.20485E-5 41499 0 NA
9-75545895-A-G p.Phe71Ser missense ALDH1A1 1 83008 1.2047E-5 41504 0 3.18492E-5
9-75545903-T-C p.Arg68Arg synonymous ALDH1A1 1 83030 1.20438E-5 41515 0 3.98111E-6
9-75545908-C-A p.Ala67Ser missense ALDH1A1 2 83034 2.40865E-5 41517 0 NA
9-75545923-T-G p.Lys62Gln missense ALDH1A1 2 83028 2.40883E-5 41514 0 NA
9-75545933-C-T p.Glu58Glu splice_region+synonymous ALDH1A1 1 83006 1.20473E-5 41503 0 NA
9-75545935-C-T p.Glu58Lys missense+splice_region ALDH1A1 4 83006 4.81893E-5 41503 0 9.55049E-5
9-75545937-T-TTATCTCCTTCTTCTACCTGGCAGAGCTCCTCCTCAGTTGCA c.172-3_172-2insTGCAACTGAGGAGGAGCTCTGCCAGGTAGAAGAAGGAGATA splice_region ALDH1A1 14 83004 1.68667E-4 41502 7 NA
9-75555058-A-G c.171+6T>C splice_region ALDH1A1 2 81520 2.45339E-5 40760 0 NA
9-75555070-T-C p.Gly55Gly synonymous ALDH1A1 1 81808 1.22237E-5 40904 0 NA
9-75555096-C-T p.Glu47Lys missense ALDH1A1 1 82172 1.21696E-5 41086 0 NA
9-75555117-C-T p.Val40Ile missense ALDH1A1 1 82240 1.21595E-5 41120 0 1.65653E-5
9-75555130-G-T p.Gly35Gly synonymous ALDH1A1 83 82218 0.00100951 41109 1 0.00254874
9-75555134-C-G p.Ser34Thr missense ALDH1A1 1 82240 1.21595E-5 41120 0 1.59591E-5
9-75555134-C-T p.Ser34Asn missense ALDH1A1 4 82240 4.86381E-5 41120 0 6.25E-4
9-75555147-G-T p.His30Asn missense ALDH1A1 4 82148 4.86926E-5 41074 0 9.12182E-5
9-75555153-C-T p.Glu28Lys missense ALDH1A1 17 82084 2.07105E-4 41042 0 9.95603E-5
9-75555162-T-C p.Ile25Val missense ALDH1A1 1 81948 1.22029E-5 40974 0 3.99575E-6
9-75555165-A-G p.Phe24Leu missense ALDH1A1 1 81878 1.22133E-5 40939 0 NA
9-75555175-A-T c.67-7T>A splice_region ALDH1A1 1 81630 1.22504E-5 40815 0 NA
9-75555176-G-T c.67-8C>A splice_region ALDH1A1 1 81618 1.22522E-5 40809 0 NA
9-75567848-C-T c.66+3G>A splice_region ALDH1A1 1 82370 1.21403E-5 41185 0 NA
9-75567850-C-T c.66+1G>A splice_donor ALDH1A1 2 82410 2.42689E-5 41205 0 NA
9-75567887-A-G p.Pro10Pro synonymous ALDH1A1 16 82656 1.93573E-4 41328 0 1.59429E-4
9-75567900-G-A p.Thr6Met missense ALDH1A1 8 82614 9.68359E-5 41307 0 0.00100705
9-75567908-G-T p.Ser3Ser synonymous ALDH1A1 1 82632 1.21018E-5 41316 0 8.2616E-6
9-75567926-G-A c.-10C>T 5_prime_UTR_premature_start_codon_gain ALDH1A1 4 82356 4.85696E-5 41178 0 1.65338E-5
9-75567930-C-T c.-14G>A splice_region ALDH1A1 1 82348 1.21436E-5 41174 0 NA
9-75567931-CT-C c.-14-2delA splice_acceptor ALDH1A1 365 82322 0.00443381 41161 2 0.00968646