Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-112204722-C-T c.-65C>T 5_prime_UTR_premature_start_codon_gain ALDH2 1 41222 2.42589E-5 20611 0 NA
12-112204745-A-G c.-42A>G 5_prime_UTR_premature_start_codon_gain ALDH2 1 46778 2.13776E-5 23389 0 NA
12-112204757-G-T c.-30G>T 5_prime_UTR_premature_start_codon_gain ALDH2 1 49184 2.03318E-5 24592 0 1.78654E-5
12-112204767-C-T c.-20C>T 5_prime_UTR_premature_start_codon_gain ALDH2 1 51820 1.92976E-5 25910 0 NA
12-112204793-C-T p.Arg3Cys missense ALDH2 1 58068 1.72212E-5 29034 0 8.56531E-6
12-112204799-G-A p.Ala5Thr missense ALDH2 1 59774 1.67297E-5 29887 0 3.18878E-5
12-112204805-C-T p.Arg7Cys missense ALDH2 2 61056 3.27568E-5 30528 0 8.53417E-6
12-112204811-G-C p.Gly9Arg missense ALDH2 2 61950 3.22841E-5 30975 0 NA
12-112204823-GGCC-G p.Arg15del disruptive_inframe_deletion ALDH2 6 64934 9.24015E-5 32467 0 3.347E-5
12-112204828-C-T p.Arg14Arg synonymous ALDH2 1 65988 1.51543E-5 32994 0 NA
12-112204832-C-T p.Leu16Phe missense ALDH2 3 67084 4.47201E-5 33542 0 9.54563E-5
12-112204833-T-G p.Leu16Arg missense ALDH2 1 67138 1.48947E-5 33569 0 NA
12-112204836-T-G p.Leu17Trp missense ALDH2 2 67492 2.96331E-5 33746 0 8.1606E-6
12-112204841-G-C p.Ala19Pro missense ALDH2 1 68088 1.46869E-5 34044 0 NA
12-112204857-C-T p.Ala24Val missense ALDH2 1 70094 1.42666E-5 35047 0 2.37933E-5
12-112204876-G-T p.Gln30His missense ALDH2 1 71882 1.39117E-5 35941 0 NA
12-112204900-G-GTCTAGATTGAAAATGTCAACTCCAGACATCACT c.114_114+1insTCTAGATTGAAAATGTCAACTCCAGACATCACT splice_donor ALDH2 1 72142 1.38616E-5 36071 0 NA
12-112204907-C-CT c.114+7_114+8insT splice_region ALDH2 1 71716 1.39439E-5 35858 0 NA
12-112213401-G-C c.115-8G>C splice_region ALDH2 2 8024 2.49252E-4 4012 0 3.1839E-5
12-112213433-G-A p.Asp47Asn missense ALDH2 3 8054 3.72486E-4 4027 0 9.2339E-4
12-112213445-C-A p.Leu51Ile missense ALDH2 2 8062 2.48077E-4 4031 0 3.1835E-5
12-112213485-C-A p.Pro64His missense ALDH2 15 8054 0.00186243 4027 0 0.00296065
12-112213495-G-T p.Thr67Thr synonymous ALDH2 4 8050 4.96894E-4 4025 0 6.27333E-5
12-112213499-C-T p.Arg69Cys missense ALDH2 1 8050 1.24224E-4 4025 0 NA
12-112213509-C-T p.Ala72Val missense ALDH2 1 8050 1.24224E-4 4025 0 9.5511E-5
12-112219716-T-C c.115-6T>C splice_region ALDH2 1 83214 1.20172E-5 41607 0 NA
12-112219717-T-C c.115-5T>C splice_region ALDH2 1 83216 1.20169E-5 41608 0 3.97966E-6
12-112219722-A-G p.Ile39Val missense+splice_region ALDH2 2 83238 2.40275E-5 41619 0 NA
12-112219724-T-G p.Ile39Met missense+splice_region ALDH2 1 83252 1.20117E-5 41626 0 4.78683E-4
12-112219728-A-G p.Ile41Val missense ALDH2 75 83270 9.00685E-4 41635 0 0.008125
12-112219745-C-T p.His46His synonymous ALDH2 2 83328 2.40015E-5 41664 0 1.59099E-5
12-112219752-G-A p.Val49Ile missense ALDH2 4 83336 4.79985E-5 41668 0 1.591E-5
12-112219780-A-G p.Asn58Ser missense ALDH2 1 83324 1.20013E-5 41662 0 2.47672E-5
12-112219787-C-T p.Ser60Ser synonymous ALDH2 2 83322 2.40033E-5 41661 0 NA
12-112219790-T-C p.Thr61Thr synonymous ALDH2 1 83324 1.20013E-5 41662 0 6.37308E-5
12-112219796-G-A p.Glu63Glu synonymous ALDH2 1 83304 1.20042E-5 41652 0 3.18492E-5
12-112219799-C-A p.Val64Val synonymous ALDH2 3 83308 3.60109E-5 41654 0 7.95425E-6
12-112219808-G-A p.Gln67Gln synonymous ALDH2 1 83296 1.20054E-5 41648 0 3.9775E-6
12-112219815-G-A p.Glu70Lys missense ALDH2 1 83270 1.20091E-5 41635 0 5.05561E-4
12-112220981-T-C p.Val80Ala missense ALDH2 8 83020 9.63623E-5 41510 0 1.59297E-4
12-112220982-G-A p.Val80Val synonymous ALDH2 3 83030 3.61315E-5 41515 0 6.37064E-5
12-112220987-C-T p.Ala82Val missense ALDH2 1 83000 1.20482E-5 41500 0 NA
12-112220989-G-A p.Ala83Thr missense ALDH2 1 82998 1.20485E-5 41499 0 1.66168E-5
12-112220992-C-T p.Arg84Trp missense ALDH2 3 83012 3.61394E-5 41506 0 8.30482E-6
12-112220993-G-A p.Arg84Gln missense ALDH2 2 83016 2.40917E-5 41508 0 1.20184E-5
12-112220997-C-T p.Ala85Ala synonymous ALDH2 10 83044 1.20418E-4 41522 0 2.54826E-4
12-112220998-G-A p.Ala86Thr missense ALDH2 1 83054 1.20404E-5 41527 0 3.18532E-5
12-112221001-T-C p.Phe87Leu missense ALDH2 4 83094 4.81383E-5 41547 0 1.27421E-4
12-112221012-C-A p.Gly90Gly synonymous ALDH2 1 83144 1.20273E-5 41572 0 4.98422E-5
12-112221013-T-A p.Ser91Thr missense ALDH2 3 83146 3.60811E-5 41573 0 3.18654E-5
12-112221016-C-A p.Pro92Thr missense ALDH2 65 83152 7.81701E-4 41576 1 0.00307143
12-112221022-C-A p.Arg94Ser missense ALDH2 1 83138 1.20282E-5 41569 0 NA
12-112221022-C-T p.Arg94Cys missense ALDH2 1 83138 1.20282E-5 41569 0 3.18573E-5
12-112221023-G-A p.Arg94His missense ALDH2 13 83132 1.56378E-4 41566 0 6.79853E-5
12-112221025-C-T p.Arg95Cys missense ALDH2 1 83126 1.20299E-5 41563 0 3.18613E-5
12-112221026-G-T p.Arg95Leu missense ALDH2 1 83144 1.20273E-5 41572 0 NA
12-112221033-C-T p.Asp97Asp synonymous ALDH2 3 83158 3.60759E-5 41579 0 1.16411E-4
12-112221049-C-T p.Arg103Trp missense ALDH2 5 83052 6.02032E-5 41526 0 1.66789E-5
12-112221050-G-A p.Arg103Gln missense ALDH2 3 83036 3.61289E-5 41518 0 4.16972E-5
12-112221055-C-T p.Leu105Leu synonymous ALDH2 59 83060 7.1033E-4 41530 2 0.00201495
12-112221058-A-G p.Asn106Asp missense ALDH2 1 83044 1.20418E-5 41522 0 NA
12-112221061-C-T p.Arg107Cys missense ALDH2 2 83022 2.409E-5 41511 0 4.0121E-5
12-112221062-G-A p.Arg107His missense ALDH2 18 83030 2.16789E-4 41515 0 2.23058E-4
12-112221062-G-T p.Arg107Leu missense ALDH2 1 83030 1.20438E-5 41515 0 NA
12-112221070-G-C p.Asp110His missense ALDH2 17 83034 2.04735E-4 41517 0 1.64762E-4
12-112221070-G-A p.Asp110Asn missense ALDH2 2 83034 2.40865E-5 41517 0 NA
12-112221078-C-A p.Ile112Ile synonymous ALDH2 2 83004 2.40952E-5 41502 0 1.20566E-5
12-112221079-G-A p.Glu113Lys missense ALDH2 2 82986 2.41005E-5 41493 0 3.18613E-5
12-112221085-G-A p.Asp115Asn missense ALDH2 4 82898 4.82521E-5 41449 0 6.37308E-5
12-112221088-C-T p.Arg116Trp missense ALDH2 1 82882 1.20653E-5 41441 0 4.03323E-6
12-112221089-G-A p.Arg116Gln missense ALDH2 2 82840 2.41429E-5 41420 0 2.52343E-5
12-112221094-T-C p.Tyr118His missense ALDH2 1 82796 1.20779E-5 41398 0 8.42716E-6
12-112221101-C-A p.Ala120Glu missense+splice_region ALDH2 1 82656 1.20983E-5 41328 0 NA
12-112221103-G-A c.360+1G>A splice_donor ALDH2 1 82616 1.21042E-5 41308 0 NA
12-112223063-C-T c.361-8C>T splice_region ALDH2 71 83268 8.52668E-4 41634 0 0.0025
12-112223065-T-C c.361-6T>C splice_region ALDH2 1 83270 1.20091E-5 41635 0 3.29457E-5
12-112223090-A-G p.Asn127Ser missense ALDH2 2 83342 2.39975E-5 41671 0 NA
12-112223097-G-A p.Lys129Lys synonymous ALDH2 9 83352 1.07976E-4 41676 0 NA
12-112223100-C-A p.Pro130Pro synonymous ALDH2 21 83354 2.51938E-4 41677 0 1.67003E-4
12-112223130-C-G p.Asp140Glu missense ALDH2 4 83354 4.79881E-5 41677 0 6.25E-4
12-112223139-C-A p.Leu143Leu synonymous ALDH2 1 83352 1.19973E-5 41676 0 NA
12-112223141-A-G p.Lys144Arg missense ALDH2 9 83344 1.07986E-4 41672 0 1.1929E-5
12-112223141-A-C p.Lys144Thr missense ALDH2 5 83344 5.99923E-5 41672 0 1.1929E-5
12-112223150-G-A p.Arg147Gln missense+splice_region ALDH2 1 83338 1.19993E-5 41669 0 5.7691E-5
12-112227636-C-T p.Ala150Ala synonymous ALDH2 3 83268 3.60282E-5 41634 0 9.55353E-5
12-112227636-C-A p.Ala150Ala synonymous ALDH2 1 83268 1.20094E-5 41634 0 1.67833E-5
12-112227637-G-A p.Gly151Ser missense ALDH2 1 83274 1.20085E-5 41637 0 7.95716E-6
12-112227647-A-G p.Asp154Gly missense ALDH2 2 83302 2.4009E-5 41651 0 2.38662E-5
12-112227651-G-A p.Lys155Lys synonymous ALDH2 1 83314 1.20028E-5 41657 0 3.18451E-5
12-112227657-C-T p.His157His synonymous ALDH2 1 83336 1.19996E-5 41668 0 6.61682E-5
12-112227667-A-G p.Ile161Val missense ALDH2 1 83354 1.1997E-5 41677 0 7.95349E-6
12-112227674-T-C p.Ile163Thr missense ALDH2 1 83356 1.19967E-5 41678 0 3.18512E-5
12-112227678-C-T p.Asp164Asp synonymous ALDH2 2 83344 2.39969E-5 41672 0 3.18492E-5
12-112227679-G-A p.Gly165Arg missense ALDH2 3 83346 3.59945E-5 41673 0 6.76068E-5
12-112227688-T-C p.Phe168Leu missense ALDH2 1 83348 1.19979E-5 41674 0 NA
12-112227697-A-T p.Thr171Ser missense ALDH2 6 83338 7.1996E-5 41669 0 7.55593E-5
12-112227709-C-A p.Pro175Thr missense ALDH2 1 83312 1.20031E-5 41656 0 1.19319E-5
12-112227723-C-T p.Cys179Cys synonymous ALDH2 20 83232 2.40292E-4 41616 0 0.00100806
12-112227724-G-A p.Gly180Arg missense ALDH2 1 83222 1.20161E-5 41611 0 1.65953E-5
12-112227726-G-A p.Gly180Gly synonymous ALDH2 1 83220 1.20163E-5 41610 0 3.18512E-5
12-112227732-C-T p.Ile182Ile synonymous ALDH2 1 83172 1.20233E-5 41586 0 NA
12-112227739-G-T c.552+1G>T splice_donor ALDH2 2 83054 2.40807E-5 41527 0 2.54946E-4
12-112228236-A-C c.553-2A>C splice_acceptor ALDH2 1 83304 1.20042E-5 41652 0 NA
12-112228248-C-T p.Pro188Leu missense ALDH2 1 83336 1.19996E-5 41668 0 3.18654E-5
12-112228249-G-A p.Pro188Pro synonymous ALDH2 124 83322 0.0014882 41661 0 8.74918E-4
12-112228271-C-T p.Leu196Leu synonymous ALDH2 2 83352 2.39946E-5 41676 0 NA
12-112228273-G-A p.Leu196Leu synonymous ALDH2 1 83358 1.19964E-5 41679 0 0.00100705
12-112228278-C-T p.Pro198Leu missense ALDH2 1 83358 1.19964E-5 41679 0 NA
12-112228281-C-T p.Ala199Val missense ALDH2 1 83358 1.19964E-5 41679 0 8.23778E-6
12-112228282-C-A p.Ala199Ala synonymous ALDH2 1 83360 1.19962E-5 41680 0 NA
12-112228298-G-A p.Val205Met missense ALDH2 2 83350 2.39952E-5 41675 0 1.59062E-5
12-112228300-G-A p.Val205Val synonymous ALDH2 3 83356 3.59902E-5 41678 0 NA
12-112228302-T-C p.Val206Ala missense ALDH2 1 83358 1.19964E-5 41679 0 2.78352E-5
12-112228333-C-G p.Leu216Leu synonymous ALDH2 2 83348 2.39958E-5 41674 0 1.27389E-4
12-112228336-C-T p.Thr217Thr synonymous ALDH2 69 83344 8.27894E-4 41672 0 0.00114672
12-112228337-G-A p.Ala218Thr missense ALDH2 1 83338 1.19993E-5 41669 0 1.19304E-5
12-112228343-T-C p.Tyr220His missense ALDH2 1 83344 1.19985E-5 41672 0 8.23818E-6
12-112228345-T-C p.Tyr220Tyr synonymous ALDH2 1 83340 1.1999E-5 41670 0 3.97678E-6
12-112228349-G-A p.Ala222Thr missense ALDH2 1 83332 1.20002E-5 41666 0 NA
12-112228362-A-G p.Lys226Arg missense ALDH2 2 83300 2.40096E-5 41650 0 NA
12-112228366-G-A p.Glu227Glu splice_region+synonymous ALDH2 1 83286 1.20068E-5 41643 0 NA
12-112228370-C-T c.681+4C>T splice_region ALDH2 1 83252 1.20117E-5 41626 0 1.19381E-5
12-112229105-C-T c.682-5C>T splice_region ALDH2 4 82716 4.83582E-5 41358 0 3.18695E-5
12-112229108-A-G c.682-2A>G splice_acceptor ALDH2 1 82740 1.20861E-5 41370 0 NA
12-112229113-G-A p.Gly229Ser missense ALDH2 1 82752 1.20843E-5 41376 0 NA
12-112229116-T-A p.Phe230Ile missense ALDH2 1 82760 1.20831E-5 41380 0 NA
12-112229118-T-TC p.Gly233fs frameshift ALDH2 1 82778 1.20805E-5 41389 0 NA
12-112229125-G-T p.Gly233Cys missense ALDH2 2 82788 2.41581E-5 41394 0 NA
12-112229131-G-A p.Val235Ile missense ALDH2 1 82806 1.20764E-5 41403 0 8.73805E-6
12-112229136-C-T p.Asn236Asn synonymous ALDH2 1 82834 1.20723E-5 41417 0 3.18695E-5
12-112229137-A-T p.Ile237Phe missense ALDH2 2 82826 2.4147E-5 41413 0 NA
12-112229140-G-T p.Val238Leu missense ALDH2 1 82828 1.20732E-5 41414 0 1.19693E-5
12-112229159-C-T p.Thr244Met missense ALDH2 23 82772 2.77872E-4 41386 1 0.00302115
12-112229160-G-A p.Thr244Thr synonymous ALDH2 1 82796 1.20779E-5 41398 0 2.59359E-5
12-112229169-C-T p.Ala247Ala synonymous ALDH2 3 82876 3.61987E-5 41438 0 6.37105E-5
12-112229181-C-T p.Ser251Ser synonymous ALDH2 1 82898 1.2063E-5 41449 0 NA
12-112229188-G-A p.Asp254Asn missense ALDH2 1 82850 1.207E-5 41425 0 NA
12-112229221-G-C p.Glu265Gln missense+splice_region ALDH2 1 82526 1.21174E-5 41263 0 NA
12-112229871-C-T p.Arg268Cys missense ALDH2 5 82932 6.02904E-5 41466 0 1.27453E-4
12-112229872-G-A p.Arg268His missense ALDH2 2 82956 2.41092E-5 41478 0 2.41536E-5
12-112229873-C-T p.Arg268Arg synonymous ALDH2 4 82972 4.8209E-5 41486 0 1.26097E-4
12-112229874-G-A p.Val269Ile missense ALDH2 1 83012 1.20465E-5 41506 0 1.68316E-5
12-112229886-G-A p.Ala273Thr missense ALDH2 1 82960 1.2054E-5 41480 0 3.18756E-5
12-112229889-G-T p.Ala274Ser missense ALDH2 1 82978 1.20514E-5 41489 0 9.56267E-5
12-112229899-G-A p.Ser277Asn missense ALDH2 1 83014 1.20462E-5 41507 0 NA
12-112229907-A-G p.Lys280Glu missense ALDH2 1 83182 1.20218E-5 41591 0 NA
12-112229908-A-G p.Lys280Arg missense ALDH2 1 83182 1.20218E-5 41591 0 3.18796E-5
12-112229916-A-C p.Thr283Pro missense ALDH2 1 83200 1.20192E-5 41600 0 NA
12-112229919-T-C p.Leu284Leu synonymous ALDH2 36 83204 4.32672E-4 41602 0 7.96787E-4
12-112229920-T-C p.Leu284Ser missense ALDH2 1 83196 1.20198E-5 41598 0 NA
12-112229921-G-A p.Leu284Leu synonymous ALDH2 1 83204 1.20187E-5 41602 0 NA
12-112229926-T-TG p.Lys289fs frameshift ALDH2 2 83194 2.40402E-5 41597 0 1.8383E-4
12-112229927-G-T p.Leu286Leu synonymous ALDH2 3 83186 3.60638E-5 41593 0 0.00100705
12-112229928-G-A p.Gly287Arg missense ALDH2 3 83182 3.60655E-5 41591 0 9.17385E-5
12-112229928-G-T p.Gly287Trp missense ALDH2 1 83184 1.20215E-5 41592 0 6.37349E-5
12-112229928-G-C p.Gly287Arg missense ALDH2 1 83184 1.20215E-5 41592 0 1.23781E-5
12-112229929-G-C p.Gly287Ala missense ALDH2 1 83200 1.20192E-5 41600 0 1.66758E-5
12-112229933-G-C p.Gly288Gly synonymous ALDH2 1 83182 1.20218E-5 41591 0 NA
12-112229933-G-A p.Gly288Gly synonymous ALDH2 1 83182 1.20218E-5 41591 0 NA
12-112229946-A-C p.Ile293Leu missense ALDH2 1 83132 1.20291E-5 41566 0 NA
12-112229955-T-G p.Ser296Ala missense ALDH2 1 83056 1.20401E-5 41528 0 NA
12-112229963-C-T p.Ala298Ala synonymous ALDH2 5 82958 6.02715E-5 41479 0 1.67356E-5
12-112229964-G-A p.Asp299Asn missense ALDH2 28 82934 3.37618E-4 41467 0 6.25E-4
12-112229970-G-GGAAC c.898+3_898+4insGAAC splice_region ALDH2 1 82814 1.20753E-5 41407 0 NA
12-112229972-G-GGCCCAC c.898+5_898+6insGCCCAC splice_region ALDH2 1 82770 1.20817E-5 41385 0 NA
12-112230397-C-T c.899-5C>T splice_region ALDH2 13 81368 1.59768E-4 40684 0 6.62603E-5
12-112230398-G-A c.899-4G>A splice_region ALDH2 14 81374 1.72045E-4 40687 0 0.00125
12-112230404-G-A p.Asp301Asn missense+splice_region ALDH2 8 81622 9.80128E-5 40811 0 1.96946E-4
12-112230404-G-T p.Asp301Tyr missense+splice_region ALDH2 1 81620 1.22519E-5 40810 0 9.3784E-6
12-112230412-C-T p.Ala303Ala synonymous ALDH2 12 81756 1.46778E-4 40878 0 2.22973E-4
12-112230413-G-A p.Val304Met missense ALDH2 76 81784 9.29277E-4 40892 1 0.00276201
12-112230416-G-A p.Glu305Lys missense ALDH2 2 81908 2.44176E-5 40954 0 NA
12-112230418-A-G p.Glu305Glu synonymous ALDH2 22 81968 2.68397E-4 40984 0 5.41539E-4
12-112230418-A-T p.Glu305Asp missense ALDH2 2 81968 2.43998E-5 40984 0 NA
12-112230424-CCA-C p.His308fs frameshift ALDH2 1 82080 1.21832E-5 41040 0 NA
12-112230428-T-G p.Phe309Val missense ALDH2 3 82116 3.65337E-5 41058 0 NA
12-112230430-C-T p.Phe309Phe synonymous ALDH2 4 82120 4.87092E-5 41060 0 3.80423E-5
12-112230440-TTC-T p.Phe313fs frameshift ALDH2 3 82172 3.65088E-5 41086 0 NA
12-112230447-A-G p.Gln315Arg missense ALDH2 1 82172 1.21696E-5 41086 0 NA
12-112230459-G-A p.Cys319Tyr missense ALDH2 2 82182 2.43362E-5 41091 0 4.04501E-6
12-112230466-C-T p.Ala321Ala synonymous ALDH2 3 82128 3.65283E-5 41064 0 3.24955E-5
12-112230467-G-A p.Gly322Ser missense ALDH2 1 82118 1.21776E-5 41059 0 NA
12-112230473-C-T p.Arg324Trp missense ALDH2 4 82084 4.87306E-5 41042 0 0.00100705
12-112230484-G-T p.Val327Val synonymous ALDH2 1 81980 1.21981E-5 40990 0 NA
12-112230516-G-A p.Arg338Gln missense ALDH2 1 81750 1.22324E-5 40875 0 5.9673E-5
12-112230521-G-A p.Val340Ile missense ALDH2 11 81672 1.34685E-4 40836 0 0.00201613
12-112230526-C-T p.Ala341Ala synonymous ALDH2 11 81652 1.34718E-4 40826 0 1.61387E-4
12-112230527-C-T p.Arg342Trp missense ALDH2 2 81634 2.44996E-5 40817 0 5.1835E-6
12-112230528-G-A p.Arg342Gln missense ALDH2 3 81648 3.67431E-5 40824 0 7.22717E-5
12-112230530-G-T p.Ala343Ser missense ALDH2 2 81638 2.44984E-5 40819 0 2.52411E-5
12-112230547-C-T p.Val348Val synonymous ALDH2 1 81308 1.22989E-5 40654 0 7.122E-5
12-112230548-G-A p.Gly349Arg missense ALDH2 1 81280 1.23031E-5 40640 0 1.77738E-5
12-112230554-C-T p.Pro351Ser missense ALDH2 1 81182 1.2318E-5 40591 0 NA
12-112230571-C-A p.Thr356Thr synonymous ALDH2 1 80750 1.23839E-5 40375 0 NA
12-112230582-C-T p.Pro360Leu missense ALDH2 1 80306 1.24524E-5 40153 0 1.9426E-5
12-112230583-G-A p.Pro360Pro synonymous ALDH2 1 80240 1.24626E-5 40120 0 4.97117E-5
12-112230586-G-A p.Gln361Gln splice_region+synonymous ALDH2 1 80234 1.24635E-5 40117 0 NA
12-112230589-G-A c.1083+3G>A splice_region ALDH2 1 80098 1.24847E-5 40049 0 3.18898E-5
12-112235880-A-T c.1084-2A>T splice_acceptor ALDH2 2 83268 2.40188E-5 41634 0 NA
12-112235910-T-A p.Leu371His missense ALDH2 1 83312 1.20031E-5 41656 0 NA
12-112235911-C-T p.Leu371Leu synonymous ALDH2 2 83312 2.40061E-5 41656 0 1.4879E-4
12-112235912-G-A p.Gly372Ser missense ALDH2 1 83312 1.20031E-5 41656 0 5.03525E-4
12-112235924-A-G p.Thr376Ala missense ALDH2 14 83322 1.68023E-4 41661 0 5.17434E-5
12-112235925-C-T p.Thr376Met missense ALDH2 2 83322 2.40033E-5 41661 0 1.27413E-4
12-112235926-G-A p.Thr376Thr synonymous ALDH2 1 83314 1.20028E-5 41657 0 2.48814E-5
12-112235928-G-C p.Gly377Ala missense ALDH2 1 83316 1.20025E-5 41658 0 1.66069E-5
12-112235938-G-A p.Glu380Glu synonymous ALDH2 1 83332 1.20002E-5 41666 0 6.36983E-5
12-112235943-C-A p.Ala382Glu missense ALDH2 2 83332 2.40004E-5 41666 0 NA
12-112235943-C-T p.Ala382Val missense ALDH2 1 83332 1.20002E-5 41666 0 8.37773E-6
12-112235944-G-A p.Ala382Ala synonymous ALDH2 4 83334 4.79996E-5 41667 0 1.27413E-4
12-112235978-C-T p.Arg394Cys missense ALDH2 3 83304 3.60127E-5 41652 0 5.03525E-4
12-112235989-C-T p.Phe397Phe synonymous ALDH2 1 83298 1.20051E-5 41649 0 9.55597E-5
12-112236000-C-T p.Thr401Ile missense ALDH2 1 83298 1.20051E-5 41649 0 NA
12-112236025-C-T p.Gly409Gly synonymous ALDH2 2 83224 2.40315E-5 41612 0 8.98295E-6
12-112236032-A-G p.Ile412Val missense ALDH2 1 83184 1.20215E-5 41592 0 NA
12-112236035-G-A p.Ala413Thr missense ALDH2 2 83126 2.40599E-5 41563 0 1.81268E-5
12-112236047-G-A c.1248+1G>A splice_donor ALDH2 1 83034 1.20433E-5 41517 0 NA
12-112236054-C-T c.1248+8C>T splice_region ALDH2 1 82960 1.2054E-5 41480 0 NA
12-112237702-C-T c.1249-8C>T splice_region ALDH2 2 83018 2.40912E-5 41509 0 1.72111E-5
12-112237710-A-G p.Ile417Val missense+splice_region ALDH2 1 83072 1.20378E-5 41536 0 NA
12-112237715-C-T p.Phe418Phe synonymous ALDH2 7 83088 8.4248E-5 41544 0 9.55171E-5
12-112237716-G-C p.Gly419Arg missense ALDH2 3 83088 3.61063E-5 41544 0 NA
12-112237730-G-A p.Gln423Gln synonymous ALDH2 1 83138 1.20282E-5 41569 0 2.51067E-5
12-112237731-A-C p.Ile424Leu missense ALDH2 2 83142 2.40552E-5 41571 0 NA
12-112237750-T-C p.Ile430Thr missense ALDH2 3 83162 3.60742E-5 41581 0 5.57747E-5
12-112237751-A-C p.Ile430Ile synonymous ALDH2 1 83160 1.2025E-5 41580 0 NA
12-112237752-G-A p.Glu431Lys missense ALDH2 2 83168 2.40477E-5 41584 0 8.35436E-6
12-112237763-T-C p.Val434Val synonymous ALDH2 22 83130 2.64646E-4 41565 0 1.51458E-4
12-112237767-A-C p.Arg436Arg synonymous ALDH2 2 83126 2.40599E-5 41563 0 6.37105E-5
12-112237768-G-A p.Arg436Lys missense ALDH2 1 83124 1.20302E-5 41562 0 5.04032E-4
12-112237768-G-T p.Arg436Ile missense ALDH2 1 83124 1.20302E-5 41562 0 NA
12-112237770-GC-AG p.Ala437Ser missense ALDH2 1 83114 1.20317E-5 41557 0 NA
12-112237783-C-T p.Thr441Met missense ALDH2 1 83074 1.20375E-5 41537 0 3.37513E-5
12-112237784-G-A p.Thr441Thr synonymous ALDH2 29 83070 3.49103E-4 41535 0 8.59763E-4
12-112237784-G-C p.Thr441Thr synonymous ALDH2 1 83070 1.2038E-5 41535 0 2.3937E-5
12-112237787-C-T p.Tyr442Tyr synonymous ALDH2 4 83092 4.81394E-5 41546 0 6.36943E-5
12-112237796-C-T p.Ala445Ala synonymous ALDH2 3 83036 3.61289E-5 41518 0 9.55231E-5
12-112237817-T-A p.Asp452Glu missense ALDH2 1 82976 1.20517E-5 41488 0 NA
12-112237828-C-T p.Ala456Val missense ALDH2 1 82890 1.20642E-5 41445 0 3.99706E-6
12-112237835-C-T p.Tyr458Tyr synonymous ALDH2 1 82830 1.20729E-5 41415 0 8.81912E-6
12-112237847-C-T p.Ala462Ala synonymous ALDH2 2 82646 2.41996E-5 41323 0 1.60251E-5
12-112237854-G-C p.Ala465Pro missense ALDH2 3 82528 3.63513E-5 41264 0 9.22952E-6
12-112237855-C-T p.Ala465Val missense ALDH2 5 82498 6.06075E-5 41249 0 9.26612E-6
12-112237855-C-G p.Ala465Gly missense ALDH2 1 82498 1.21215E-5 41249 0 NA
12-112237858-G-GGC p.Thr467fs frameshift ALDH2 1 82430 1.21315E-5 41215 0 NA
12-112237859-C-A p.Gly466Gly synonymous ALDH2 1 82398 1.21362E-5 41199 0 NA
12-112237860-A-AGG p.Thr467fs frameshift ALDH2 1 82382 1.21386E-5 41191 0 NA
12-112237861-C-CT p.Val468fs frameshift ALDH2 1 82360 1.21418E-5 41180 0 NA
12-112241704-G-T p.Gly483Val missense ALDH2 1 83044 1.20418E-5 41522 0 NA
12-112241719-C-T p.Ser488Leu missense ALDH2 3 82936 3.61725E-5 41468 0 9.28264E-6
12-112241720-G-A p.Ser488Ser synonymous ALDH2 3 82952 3.61655E-5 41476 0 6.16587E-4
12-112241731-G-A p.Arg492Gln missense ALDH2 1 82910 1.20613E-5 41455 0 2.85079E-5
12-112241741-C-T p.Gly495Gly synonymous ALDH2 1 82806 1.20764E-5 41403 0 1.97406E-5
12-112241744-G-A p.Glu496Glu synonymous ALDH2 1 82808 1.20761E-5 41404 0 6.25E-4
12-112241747-C-G p.Tyr497* stop_gained ALDH2 2 82768 2.41639E-5 41384 0 1.72333E-4
12-112241747-C-T p.Tyr497Tyr synonymous ALDH2 2 82768 2.41639E-5 41384 0 8.10981E-5
12-112241753-G-A p.Leu499Leu synonymous ALDH2 7 82772 8.45697E-5 41386 0 1.04436E-5
12-112241766-G-A p.Glu504Lys missense ALDH2 289 82652 0.00349659 41326 30 0.0212867
12-112241771-G-A p.Val505Val synonymous ALDH2 4 82624 4.84121E-5 41312 0 2.51744E-4
12-112241782-G-T c.1521+5G>T splice_region ALDH2 2 82460 2.42542E-5 41230 0 NA
12-112241783-T-A c.1521+6T>A splice_region ALDH2 3 82452 3.63848E-5 41226 0 1.3587E-5
12-112247350-ACAGT-A p.Val510fs frameshift ALDH2 1 82668 1.20966E-5 41334 0 3.1835E-5
12-112247351-C-T p.Thr509Ile missense ALDH2 1 82686 1.20939E-5 41343 0 7.96071E-6
12-112247355-C-G p.Val510Val synonymous ALDH2 2 82760 2.41663E-5 41380 0 1.19412E-5
12-112247363-C-T p.Pro513Leu missense ALDH2 1 82924 1.20592E-5 41462 0 3.9801E-6
12-112247442-C-T c.*63C>T splice_region ALDH2 3 82902 3.61873E-5 41451 0 NA