Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-135239553-T-C p.Ter488Trpext*? stop_lost ALDH8A1 5 83308 6.00182E-5 41654 0 2.5061E-5
6-135239557-T-C p.His487Arg missense ALDH8A1 1 83316 1.20025E-5 41658 0 NA
6-135239564-C-T p.Val485Ile missense ALDH8A1 1 83334 1.19999E-5 41667 0 4.14559E-5
6-135239565-G-A p.Thr484Thr synonymous ALDH8A1 3 83342 3.59963E-5 41671 0 5.03525E-4
6-135239571-G-C p.Thr482Thr synonymous ALDH8A1 2 83352 2.39946E-5 41676 0 2.86734E-4
6-135239577-G-T p.Ile480Ile synonymous ALDH8A1 1 83360 1.19962E-5 41680 0 0.00100705
6-135239594-C-T p.Asp475Asn missense ALDH8A1 2 83364 2.39912E-5 41682 0 8.24606E-6
6-135239595-G-A p.Tyr474Tyr synonymous ALDH8A1 5 83366 5.99765E-5 41683 0 9.55718E-5
6-135239596-T-C p.Tyr474Cys missense ALDH8A1 1 83366 1.19953E-5 41683 0 NA
6-135239602-T-A p.Asp472Val missense ALDH8A1 3 83366 3.59859E-5 41683 0 1.59086E-5
6-135239644-C-G p.Gly458Ala missense ALDH8A1 1 83352 1.19973E-5 41676 0 NA
6-135239645-C-T p.Gly458Arg missense ALDH8A1 4 83350 4.79904E-5 41675 0 NA
6-135239646-G-A p.Phe457Phe synonymous ALDH8A1 4 83350 4.79904E-5 41675 0 2.47243E-5
6-135239654-G-A p.Leu455Phe missense ALDH8A1 1 83352 1.19973E-5 41676 0 NA
6-135239678-A-C p.Cys447Gly missense ALDH8A1 6 83330 7.20029E-5 41665 0 3.18205E-5
6-135239679-G-A p.Asn446Asn synonymous ALDH8A1 1 83332 1.20002E-5 41666 0 NA
6-135239719-C-T p.Arg433Gln missense ALDH8A1 4 83298 4.80204E-5 41649 0 3.18532E-5
6-135239720-G-A p.Arg433Trp missense ALDH8A1 1 83288 1.20065E-5 41644 0 1.59136E-5
6-135239723-G-A p.His432Tyr missense ALDH8A1 1 83278 1.2008E-5 41639 0 8.24144E-6
6-135239726-C-T p.Val431Ile missense ALDH8A1 1 83274 1.20085E-5 41637 0 2.78463E-5
6-135239727-G-A p.Arg430Arg synonymous ALDH8A1 101 83266 0.00121298 41633 0 0.00302548
6-135239728-C-T p.Arg430His missense ALDH8A1 1 83262 1.20103E-5 41631 0 1.98902E-5
6-135239735-C-T p.Val428Met missense ALDH8A1 1 83294 1.20057E-5 41647 0 NA
6-135239736-A-G p.Asn427Asn synonymous ALDH8A1 1 83296 1.20054E-5 41648 0 8.23913E-5
6-135239745-C-A p.Trp424Cys missense ALDH8A1 2 83286 2.40136E-5 41643 0 NA
6-135239750-C-T p.Val423Met missense ALDH8A1 1 83268 1.20094E-5 41634 0 4.1197E-5
6-135239751-G-A p.Thr422Thr synonymous ALDH8A1 3 83270 3.60274E-5 41635 0 3.97823E-6
6-135239757-C-T p.Ala420Ala synonymous ALDH8A1 7 83256 8.4078E-5 41628 0 5.02529E-4
6-135239758-G-C p.Ala420Gly missense ALDH8A1 1168 83218 0.0140354 41609 11 0.0116872
6-135239758-G-A p.Ala420Val missense ALDH8A1 4 83252 4.80469E-5 41626 0 3.18451E-5
6-135239771-T-G p.Lys416Gln missense ALDH8A1 28 83246 3.36353E-4 41623 0 0.00151057
6-135239771-T-C p.Lys416Glu missense ALDH8A1 1 83246 1.20126E-5 41623 0 NA
6-135239774-C-T p.Val415Ile missense ALDH8A1 3 83218 3.60499E-5 41609 0 3.1835E-5
6-135239775-G-A p.Asn414Asn synonymous ALDH8A1 12 83222 1.44193E-4 41611 0 0.0025
6-135239791-A-G p.Ile409Thr missense ALDH8A1 6 83178 7.21345E-5 41589 0 5.03525E-4
6-135239793-C-A p.Val408Val synonymous ALDH8A1 1 83162 1.20247E-5 41581 0 NA
6-135239798-C-G p.Glu407Gln missense ALDH8A1 1 83144 1.20273E-5 41572 0 NA
6-135239799-C-T p.Glu406Glu synonymous ALDH8A1 2 83140 2.40558E-5 41570 0 NA
6-135239806-C-A p.Ser404Ile missense ALDH8A1 1 83106 1.20328E-5 41553 0 NA
6-135239809-T-C p.Asp403Gly missense ALDH8A1 1 83110 1.20322E-5 41555 0 6.36943E-5
6-135239815-G-C p.Pro401Arg missense ALDH8A1 1 83060 1.20395E-5 41530 0 NA
6-135239816-G-T p.Pro401Thr missense ALDH8A1 356 83042 0.00428699 41521 1 0.01125
6-135239816-G-A p.Pro401Ser missense ALDH8A1 1 83050 1.20409E-5 41525 0 3.98026E-6
6-135239819-C-T p.Val400Ile missense ALDH8A1 2 83030 2.40877E-5 41515 0 4.94258E-5
6-135239820-G-A p.Val399Val synonymous ALDH8A1 52 83026 6.2631E-4 41513 0 0.00135104
6-135239827-G-A p.Thr397Met missense ALDH8A1 8 82984 9.64041E-5 41492 0 5.97048E-5
6-135239831-C-G p.Val396Leu missense ALDH8A1 2 82990 2.40993E-5 41495 0 8.2375E-6
6-135239840-A-C p.Phe393Val missense ALDH8A1 1 83028 1.20441E-5 41514 0 NA
6-135239844-C-T p.Glu391Glu synonymous ALDH8A1 3 83020 3.61359E-5 41510 0 3.29489E-5
6-135239850-C-T p.Thr389Thr synonymous ALDH8A1 3 83036 3.61289E-5 41518 0 1.19383E-5
6-135239851-G-A p.Thr389Met missense ALDH8A1 5 83012 6.02323E-5 41506 0 8.23764E-5
6-135239853-C-T p.Met388Ile missense ALDH8A1 1 83014 1.20462E-5 41507 0 5.03525E-4
6-135239889-C-T p.Thr376Thr synonymous ALDH8A1 47 83094 5.65624E-4 41547 0 6.25E-4
6-135239890-G-A p.Thr376Met missense ALDH8A1 9 83102 1.08301E-4 41551 0 4.37633E-5
6-135239929-A-C p.Leu363Arg missense ALDH8A1 2 83134 2.40575E-5 41567 0 NA
6-135239941-T-C p.Asp359Gly missense ALDH8A1 119 83152 0.00143111 41576 1 0.00168811
6-135239942-C-T p.Asp359Asn missense ALDH8A1 10 83156 1.20256E-4 41578 0 4.14039E-4
6-135239954-C-T p.Gly355Ser missense ALDH8A1 17 83160 2.04425E-4 41580 0 4.20646E-4
6-135239955-G-A p.Cys354Cys synonymous ALDH8A1 3 83150 3.60794E-5 41575 0 7.96185E-6
6-135239981-G-A p.Leu346Phe missense ALDH8A1 1 83182 1.20218E-5 41591 0 3.9873E-6
6-135239989-T-C p.Lys343Arg missense ALDH8A1 3 83190 3.6062E-5 41595 0 3.18451E-5
6-135239993-C-T p.Val342Ile missense ALDH8A1 20 83184 2.40431E-4 41592 0 3.18512E-4
6-135239994-G-GT p.Tyr341fs frameshift ALDH8A1 6 83194 7.21206E-5 41597 0 2.39597E-5
6-135239994-G-A p.Tyr341Tyr synonymous ALDH8A1 10 83194 1.20201E-4 41597 0 0.00100705
6-135240009-C-T c.1012-4G>A splice_region ALDH8A1 1 83158 1.20253E-5 41579 0 3.18512E-5
6-135240010-G-A c.1012-5C>T splice_region ALDH8A1 59 83146 7.09595E-4 41573 0 0.00125
6-135250192-T-G p.Lys337Asn missense+splice_region ALDH8A1 3 83208 3.60542E-5 41604 0 1.65338E-5
6-135250195-C-A p.Glu336Asp missense ALDH8A1 1 83212 1.20175E-5 41606 0 NA
6-135250211-C-G p.Ser331Thr missense ALDH8A1 3 83266 3.60291E-5 41633 0 NA
6-135250224-C-T p.Gly327Ser missense ALDH8A1 1 83282 1.20074E-5 41641 0 3.97814E-6
6-135250236-G-A p.Leu22Leu splice_region+synonymous ALDH8A1 213 83298 0.00255708 41649 1 0.00471218
6-135250239-G-A p.Pro322Ser missense ALDH8A1 4 83306 4.80158E-5 41653 0 4.37498E-5
6-135250248-G-A p.Pro319Ser missense ALDH8A1 1 83304 1.20042E-5 41652 0 NA
6-135250252-G-T p.Gly317Gly synonymous ALDH8A1 1 83308 1.20036E-5 41654 0 3.18431E-5
6-135250254-C-T p.Gly317Ser missense ALDH8A1 5 83314 6.00139E-5 41657 0 4.77262E-5
6-135250267-T-G p.Arg312Ser missense ALDH8A1 1 83314 1.20028E-5 41657 0 1.64804E-5
6-135250281-C-T p.Val308Ile missense ALDH8A1 1 83306 1.20039E-5 41653 0 NA
6-135250283-A-T p.Phe307Tyr missense ALDH8A1 1 83310 1.20034E-5 41655 0 3.97747E-6
6-135250286-C-G p.Arg306Thr missense ALDH8A1 1 83312 1.20031E-5 41656 0 3.9776E-6
6-135250303-A-G p.Tyr300Tyr synonymous ALDH8A1 12 83272 1.44106E-4 41636 0 5.03525E-4
6-135250331-C-T p.Ser291Asn missense ALDH8A1 1 83214 1.20172E-5 41607 0 1.65505E-5
6-135250335-T-C p.Thr290Ala missense ALDH8A1 1 83202 1.20189E-5 41601 0 NA
6-135250342-A-G p.Cys287Cys synonymous ALDH8A1 1 83184 1.20215E-5 41592 0 8.30482E-6
6-135250351-A-T p.Gly284Gly splice_region+synonymous ALDH8A1 3 83146 3.60811E-5 41573 0 3.33801E-5
6-135253911-T-C c.849+3A>G splice_region ALDH8A1 2 83022 2.409E-5 41511 0 3.98699E-6
6-135253935-G-A p.Val276Val synonymous ALDH8A1 1 83250 1.2012E-5 41625 0 NA
6-135253937-C-T p.Val276Ile missense ALDH8A1 9 83240 1.08121E-4 41620 0 0.00125
6-135253937-C-A p.Val276Phe missense ALDH8A1 1 83240 1.20135E-5 41620 0 1.65336E-5
6-135253938-G-A p.Thr275Thr synonymous ALDH8A1 3 83248 3.60369E-5 41624 0 5.7835E-5
6-135253944-C-T p.Pro273Pro synonymous ALDH8A1 2 83268 2.40188E-5 41634 0 1.19398E-5
6-135253945-G-A p.Pro273Leu missense ALDH8A1 9 83266 1.08087E-4 41633 0 1.73296E-4
6-135253949-T-C p.Ile272Val missense ALDH8A1 1 83292 1.2006E-5 41646 0 NA
6-135253957-T-C p.Asp269Gly missense ALDH8A1 1 83314 1.20028E-5 41657 0 NA
6-135253968-G-A p.Asp265Asp synonymous ALDH8A1 4 83308 4.80146E-5 41654 0 2.78427E-5
6-135253980-G-T p.Ile261Ile synonymous ALDH8A1 1 83298 1.20051E-5 41649 0 3.97719E-6
6-135253982-T-C p.Ile261Val missense ALDH8A1 1 83300 1.20048E-5 41650 0 NA
6-135253983-G-A p.Ala260Ala synonymous ALDH8A1 1 83306 1.20039E-5 41653 0 1.64834E-5
6-135253984-G-A p.Ala260Val missense ALDH8A1 1 83304 1.20042E-5 41652 0 1.19308E-5
6-135253995-G-GC p.Lys257fs frameshift ALDH8A1 1 83258 1.20109E-5 41629 0 8.24307E-6
6-135254009-G-C p.Leu252Val missense ALDH8A1 2 83190 2.40414E-5 41595 0 8.2447E-6
6-135254027-G-C p.His246Asp missense ALDH8A1 1 83090 1.20351E-5 41545 0 NA
6-135254028-G-C p.Pro245Pro synonymous ALDH8A1 9 83082 1.08327E-4 41541 0 1.91131E-4
6-135254031-A-C p.Ala244Ala synonymous ALDH8A1 1 83022 1.2045E-5 41511 0 NA
6-135254033-C-T p.Ala244Thr missense ALDH8A1 3 82994 3.61472E-5 41497 0 1.59327E-4
6-135254034-G-A p.Ser243Ser synonymous ALDH8A1 327 82982 0.00394061 41491 8 0.00824893
6-135254044-G-C p.Thr240Ser missense ALDH8A1 3 82924 3.61777E-5 41462 0 6.36862E-5
6-135254049-C-A p.Arg238Arg synonymous ALDH8A1 1 82882 1.20653E-5 41441 0 7.44441E-5
6-135254050-C-T p.Arg238Gln missense ALDH8A1 11 82888 1.32709E-4 41444 0 8.36147E-5
6-135254051-G-A p.Arg238Trp missense ALDH8A1 3 82860 3.62056E-5 41430 0 6.25E-4
6-135254057-C-T p.Ala236Thr missense ALDH8A1 1 82834 1.20723E-5 41417 0 1.99213E-5
6-135254058-G-A p.Thr235Thr synonymous ALDH8A1 1 82832 1.20726E-5 41416 0 3.18532E-5
6-135254068-C-T p.Ser232Asn missense ALDH8A1 2 82766 2.41645E-5 41383 0 3.18451E-5
6-135254070-C-T p.Gly231Gly synonymous ALDH8A1 1 82758 1.20834E-5 41379 0 NA
6-135254073-G-A p.Thr230Thr synonymous ALDH8A1 3 82760 3.62494E-5 41380 0 6.37146E-5
6-135254076-G-A p.Phe229Phe synonymous ALDH8A1 1 82782 1.20799E-5 41391 0 9.55475E-5
6-135254078-A-G p.Phe229Leu missense ALDH8A1 2 82762 2.41657E-5 41381 0 3.98953E-6
6-135254082-G-A p.Ile227Ile synonymous ALDH8A1 1 82760 1.20831E-5 41380 0 NA
6-135254085-CA-C p.Leu226fs frameshift ALDH8A1 4 82750 4.83384E-5 41375 0 1.99645E-5
6-135254106-C-T p.Val219Val synonymous ALDH8A1 1 82728 1.20878E-5 41364 0 NA
6-135254114-C-T p.Ala217Thr missense ALDH8A1 7 82714 8.4629E-5 41357 0 0.00100806
6-135254121-C-G p.Val214Val synonymous ALDH8A1 1 82746 1.20852E-5 41373 0 NA
6-135254124-C-T p.Arg213Arg synonymous ALDH8A1 1 82778 1.20805E-5 41389 0 NA
6-135254132-C-T p.Gly211Arg missense ALDH8A1 1 82704 1.20913E-5 41352 0 1.27429E-4
6-135254133-G-A p.Thr210Thr synonymous ALDH8A1 4 82714 4.83594E-5 41357 0 9.55718E-5
6-135254142-C-T p.Val207Val synonymous ALDH8A1 249 82634 0.00301329 41317 2 0.00611621
6-135254151-G-T p.Val204Val synonymous ALDH8A1 1 82550 1.21139E-5 41275 0 3.18552E-5
6-135254168-C-T p.Val199Ile missense+splice_region ALDH8A1 1 82208 1.21643E-5 41104 0 NA
6-135254169-A-G p.Gly198Gly splice_region+synonymous ALDH8A1 2 82188 2.43345E-5 41094 0 NA
6-135254174-G-T c.593-4C>A splice_region ALDH8A1 1 82052 1.21874E-5 41026 0 1.51843E-5
6-135260403-C-T c.592+1G>A splice_donor ALDH8A1 1 82764 1.20825E-5 41382 0 NA
6-135260414-C-T p.Leu194Leu synonymous ALDH8A1 1 82860 1.20685E-5 41430 0 NA
6-135260429-C-T p.Met189Ile missense ALDH8A1 1 83006 1.20473E-5 41503 0 8.23873E-6
6-135260436-G-A p.Ala187Val missense ALDH8A1 3 83038 3.6128E-5 41519 0 1.64761E-5
6-135260437-C-T p.Ala187Thr missense ALDH8A1 15 83038 1.8064E-4 41519 0 1.31306E-4
6-135260437-C-G p.Ala187Pro missense ALDH8A1 1 83038 1.20427E-5 41519 0 NA
6-135260440-T-G p.Thr186Pro missense ALDH8A1 1 83050 1.20409E-5 41525 0 NA
6-135260441-C-A p.Val185Val synonymous ALDH8A1 1 83060 1.20395E-5 41530 0 NA
6-135260453-C-G p.Glu181Asp missense ALDH8A1 1 83146 1.2027E-5 41573 0 3.97769E-6
6-135260462-C-G p.Lys178Asn missense ALDH8A1 1 83192 1.20204E-5 41596 0 NA
6-135260470-TCA-T p.Val175fs frameshift ALDH8A1 3 83218 3.60499E-5 41609 0 NA
6-135260475-G-GCGA p.Thr174delinsIleAla conservative_inframe_insertion ALDH8A1 3 83234 3.6043E-5 41617 0 NA
6-135260477-GTTCCCTGCA-G p.Ala171_Asn173del disruptive_inframe_deletion ALDH8A1 3 83240 3.60404E-5 41620 0 NA
6-135260478-T-C p.Asn173Ser missense ALDH8A1 23 83242 2.76303E-4 41621 0 1.27421E-4
6-135260489-C-T p.Met169Ile missense ALDH8A1 3 83254 3.60343E-5 41627 0 NA
6-135260492-C-T p.Ala168Ala synonymous ALDH8A1 7 83252 8.40821E-5 41626 0 3.29875E-5
6-135260503-T-G p.Ile165Leu missense ALDH8A1 3 83238 3.60412E-5 41619 0 3.30453E-5
6-135260519-G-C p.Tyr159* stop_gained ALDH8A1 1 83192 1.20204E-5 41596 0 1.5916E-5
6-135260520-T-C p.Tyr159Cys missense ALDH8A1 3 83184 3.60646E-5 41592 0 8.30882E-6
6-135260524-G-A p.Leu158Phe missense ALDH8A1 1 83162 1.20247E-5 41581 0 NA
6-135260537-G-A p.Pro153Pro synonymous ALDH8A1 3 83116 3.60941E-5 41558 0 3.18471E-5
6-135260540-G-A p.Ser152Ser synonymous ALDH8A1 1 83088 1.20354E-5 41544 0 3.98454E-6
6-135260549-A-G p.Gly149Gly synonymous ALDH8A1 3 83034 3.61298E-5 41517 0 1.89642E-4
6-135260551-C-T p.Gly149Ser missense+splice_region ALDH8A1 1 83036 1.2043E-5 41518 0 3.99138E-6
6-135260557-AG-A c.443-5delC splice_region ALDH8A1 6 82922 7.23572E-5 41461 0 5.01982E-4
6-135260557-A-G c.443-4T>C splice_region ALDH8A1 1 82922 1.20595E-5 41461 0 NA
6-135261363-C-CA c.443-5_443-4insT splice_region ALDH8A1 7 6956 0.00100633 3478 0 0.00925926
6-135261363-CA-C c.443-5delT splice_region ALDH8A1 1 6948 1.43926E-4 3474 0 0.0277778
6-135263539-G-A c.442+8C>T splice_region ALDH8A1 1 83074 1.20375E-5 41537 0 NA
6-135263540-C-A c.442+7G>T splice_region ALDH8A1 1 83070 1.2038E-5 41535 0 NA
6-135263540-C-T c.442+7G>A splice_region ALDH8A1 1 83070 1.2038E-5 41535 0 NA
6-135263541-A-T c.442+6T>A splice_region ALDH8A1 4 83070 4.81522E-5 41535 0 1.01407E-4
6-135263547-C-T p.Ala148Thr missense+splice_region ALDH8A1 2 83122 2.4061E-5 41561 0 5.04032E-4
6-135263548-G-A p.Val147Val splice_region+synonymous ALDH8A1 35 83134 4.21007E-4 41567 0 0.00312891
6-135263557-C-A p.Pro144Pro synonymous ALDH8A1 6220 83024 0.0749181 41512 363 0.117688
6-135263557-C-T p.Pro144Pro synonymous ALDH8A1 4 83190 4.80827E-5 41595 0 7.24754E-5
6-135263558-G-A p.Pro144Leu missense ALDH8A1 11 83182 1.3224E-4 41591 0 3.33946E-5
6-135263564-C-G p.Arg142Pro missense ALDH8A1 1 83258 1.20109E-5 41629 0 NA
6-135263564-C-T p.Arg142Gln missense ALDH8A1 3 83258 3.60326E-5 41629 0 5.59561E-5
6-135263564-C-A p.Arg142Leu missense ALDH8A1 1 83258 1.20109E-5 41629 0 3.99687E-6
6-135263565-G-A p.Arg142Trp missense ALDH8A1 3 83262 3.60308E-5 41631 0 5.99434E-5
6-135263569-C-T p.Thr140Thr synonymous ALDH8A1 1 83294 1.20057E-5 41647 0 3.59084E-5
6-135263570-G-A p.Thr140Met missense ALDH8A1 2 83306 2.40079E-5 41653 0 3.18451E-5
6-135263579-A-C p.Met137Arg missense ALDH8A1 3 83328 3.60023E-5 41664 0 3.303E-5
6-135263579-A-T p.Met137Lys missense ALDH8A1 2 83328 2.40015E-5 41664 0 NA
6-135263580-T-C p.Met137Val missense ALDH8A1 1 83332 1.20002E-5 41666 0 2.47696E-5
6-135263599-C-T p.Gln130Gln synonymous ALDH8A1 1 83346 1.19982E-5 41673 0 NA
6-135263602-CGTGCACTCTGACGTGTG-C p.His124fs frameshift ALDH8A1 1 83344 1.19985E-5 41672 0 2.47321E-5
6-135263603-G-A p.Thr129Met missense ALDH8A1 6 83350 7.19856E-5 41675 0 2.86588E-4
6-135263614-C-G p.Thr125Thr synonymous ALDH8A1 7 83350 8.39832E-5 41675 0 6.36983E-5
6-135263614-C-T p.Thr125Thr synonymous ALDH8A1 1 83350 1.19976E-5 41675 0 3.58021E-5
6-135263620-G-C p.His123Gln missense ALDH8A1 1 83364 1.19956E-5 41682 0 NA
6-135263631-A-C p.Ser120Ala missense ALDH8A1 3 83388 3.59764E-5 41694 0 2.54664E-4
6-135263632-G-A p.Ser15Ser splice_region+synonymous ALDH8A1 1 83386 1.19924E-5 41693 0 8.24239E-6
6-135263637-C-T p.Ala118Thr missense ALDH8A1 6 83370 7.19683E-5 41685 0 3.29739E-5
6-135263643-A-G p.Phe116Leu missense ALDH8A1 2 83376 2.39877E-5 41688 0 8.24429E-6
6-135263648-AAGTT-A p.Asn113fs frameshift ALDH8A1 2 83380 2.39866E-5 41690 0 8.24484E-6
6-135263664-G-A p.Arg109Trp missense ALDH8A1 1 83382 1.1993E-5 41691 0 8.25082E-6
6-135263676-T-C p.Met1? start_lost ALDH8A1 3 83392 3.59747E-5 41696 0 3.18532E-5
6-135263688-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 1 83378 1.19936E-5 41689 0 NA
6-135263700-TC-T p.Thr98fs frameshift ALDH8A1 1 83350 1.19976E-5 41675 0 3.18552E-5
6-135263708-A-G c.287-6T>C splice_region ALDH8A1 1 83334 1.19999E-5 41667 0 8.39743E-6
6-135264955-A-G c.286+2T>C splice_donor ALDH8A1 3 83280 3.60231E-5 41640 0 8.39574E-6
6-135264960-G-C p.Gln95Glu missense ALDH8A1 1 83304 1.20042E-5 41652 0 3.18471E-5
6-135264966-T-A p.Lys93* stop_gained ALDH8A1 1 83316 1.20025E-5 41658 0 8.34989E-6
6-135264971-T-C p.Glu91Gly missense ALDH8A1 3 83320 3.60058E-5 41660 0 NA
6-135264972-C-T p.Glu91Lys missense ALDH8A1 1 83320 1.20019E-5 41660 0 6.36983E-5
6-135264973-G-A c.-43C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 3 83326 3.60032E-5 41663 0 8.32515E-6
6-135264977-T-A p.Gln89Leu missense ALDH8A1 1 83328 1.20008E-5 41664 0 NA
6-135264988-C-T p.Glu85Glu synonymous ALDH8A1 1 83350 1.19976E-5 41675 0 NA
6-135265005-G-A c.-75C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 1 83334 1.19999E-5 41667 0 NA
6-135265012-C-T p.Ala77Ala synonymous ALDH8A1 4 83320 4.80077E-5 41660 0 5.03525E-4
6-135265012-C-A c.-82G>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 1 83320 1.20019E-5 41660 0 NA
6-135265017-C-G p.Val76Leu missense ALDH8A1 1 83324 1.20013E-5 41662 0 4.13264E-5
6-135265027-G-T p.Val72Val synonymous ALDH8A1 23 83308 2.76084E-4 41654 1 0.00113197
6-135265031-C-T p.Arg71Gln missense ALDH8A1 4 83298 4.80204E-5 41649 0 9.55414E-5
6-135265032-G-A p.Arg71Trp missense ALDH8A1 2 83302 2.4009E-5 41651 0 1.19323E-5
6-135265037-C-A p.Arg69Leu missense ALDH8A1 1 83276 1.20083E-5 41638 0 2.47762E-5
6-135265037-C-T p.Arg69His missense ALDH8A1 1 83276 1.20083E-5 41638 0 3.30349E-5
6-135265038-G-A p.Arg69Cys missense ALDH8A1 1 83268 1.20094E-5 41634 0 3.18492E-5
6-135265038-G-C p.Arg69Gly missense ALDH8A1 1 83268 1.20094E-5 41634 0 3.18492E-5
6-135265046-G-A p.Pro66Leu missense ALDH8A1 1 83282 1.20074E-5 41641 0 3.97807E-6
6-135265052-C-T p.Arg64His missense ALDH8A1 14 83272 1.68124E-4 41636 0 2.54858E-4
6-135265063-G-A c.-133C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 1 83266 1.20097E-5 41633 0 NA
6-135265072-G-C p.Ala57Ala synonymous ALDH8A1 2 83228 2.40304E-5 41614 0 NA
6-135265073-G-C p.Ala57Gly missense ALDH8A1 1 83216 1.20169E-5 41608 0 NA
6-135265083-C-T p.Ala54Thr missense ALDH8A1 2 83150 2.40529E-5 41575 0 3.18431E-5
6-135265083-C-A p.Ala54Ser missense ALDH8A1 1 83150 1.20265E-5 41575 0 3.98619E-6
6-135265085-G-T p.Ala53Asp missense ALDH8A1 2 83138 2.40564E-5 41569 0 NA
6-135265092-C-T p.Val51Ile missense ALDH8A1 1 83110 1.20322E-5 41555 0 3.39928E-5
6-135265093-C-T p.Ala50Ala synonymous ALDH8A1 2 83092 2.40697E-5 41546 0 5.11195E-5
6-135265095-C-T p.Ala50Thr missense ALDH8A1 1 83064 1.20389E-5 41532 0 2.5481E-4
6-135265096-G-A c.-166C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 8 83046 9.63322E-5 41523 0 3.18492E-4
6-135265101-C-T p.Glu48Lys missense ALDH8A1 2 83020 2.40906E-5 41510 0 0.00100705
6-135265102-G-A c.-172C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 16 83010 1.92748E-4 41505 0 4.39684E-4
6-135265189-C-T c.-259G>A 5_prime_UTR_premature_start_codon_gain ALDH8A1 43 79444 5.41262E-4 39722 0 2.95877E-4
6-135265193-C-T c.-263G>A 5_prime_UTR_premature_start_codon_gain ALDH8A1 2 78834 2.53698E-5 39417 0 NA
6-135265306-A-G c.-376T>C 5_prime_UTR_premature_start_codon_gain ALDH8A1 1 28494 3.50951E-5 14247 0 NA
6-135265348-G-A c.-418C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 1 18358 5.44722E-5 9179 0 NA
6-135265366-C-A c.-436G>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 16 13866 0.0011539 6933 0 8.92174E-4
6-135271049-C-T c.138+5G>A splice_region ALDH8A1 1 82430 1.21315E-5 41215 0 8.3899E-6
6-135271051-C-T c.138+3G>A splice_region ALDH8A1 1 82504 1.21206E-5 41252 0 NA
6-135271056-C-T p.Glu46Lys missense+splice_region ALDH8A1 5 82494 6.06105E-5 41247 0 2.52666E-5
6-135271057-G-A p.Asp45Asp synonymous ALDH8A1 19 82390 2.30611E-4 41195 0 5.04032E-4
6-135271058-T-C p.Asp45Gly missense ALDH8A1 2 82498 2.4243E-5 41249 0 8.39518E-6
6-135271064-C-T p.Gly43Glu missense ALDH8A1 1 82548 1.21142E-5 41274 0 8.35338E-6
6-135271069-A-C p.Asn41Lys missense ALDH8A1 1 82840 1.20715E-5 41420 0 NA
6-135271070-T-C p.Asn41Ser missense ALDH8A1 2 82838 2.41435E-5 41419 0 6.65823E-5
6-135271073-G-A p.Pro40Leu missense ALDH8A1 4 82822 4.82963E-5 41411 0 1.38582E-4
6-135271082-C-T p.Cys37Tyr missense ALDH8A1 1 83122 1.20305E-5 41561 0 3.1837E-5
6-135271087-C-A p.Val35Val synonymous ALDH8A1 2 83162 2.40494E-5 41581 0 NA
6-135271088-A-C p.Val35Gly missense ALDH8A1 1 83180 1.20221E-5 41590 0 4.0024E-6
6-135271098-T-C p.Thr32Ala missense ALDH8A1 2 83226 2.4031E-5 41613 0 7.99955E-6
6-135271108-G-A p.Tyr28Tyr synonymous ALDH8A1 3 83268 3.60282E-5 41634 0 6.60022E-5
6-135271110-A-T p.Tyr28Asn missense ALDH8A1 1 83286 1.20068E-5 41643 0 NA
6-135271114-A-G p.Asp26Asp synonymous ALDH8A1 13 83306 1.56051E-4 41653 0 0.00100705
6-135271120-A-T p.Tyr24* stop_gained ALDH8A1 1 83320 1.20019E-5 41660 0 NA
6-135271130-C-A p.Cys21Phe missense ALDH8A1 1 83328 1.20008E-5 41664 0 NA
6-135271158-T-C p.Asn12Asp missense ALDH8A1 2 83320 2.40038E-5 41660 0 NA
6-135271167-T-C p.Met9Val missense ALDH8A1 3 83312 3.60092E-5 41656 0 NA
6-135271172-A-G p.Leu7Pro missense ALDH8A1 1 83308 1.20036E-5 41654 0 8.00576E-6
6-135271176-C-T p.Ala6Thr missense ALDH8A1 45 83306 5.40177E-4 41653 0 0.00312142
6-135271177-G-A p.Asn5Asn synonymous ALDH8A1 4 83300 4.80192E-5 41650 0 1.1631E-4
6-135271178-T-C p.Asn5Ser missense ALDH8A1 363 83294 0.00435806 41647 8 0.00920382
6-135271188-C-A p.Ala2Ser missense ALDH8A1 6 83290 7.20375E-5 41645 0 3.18451E-5
6-135271189-C-T p.Met1? start_lost ALDH8A1 3 83290 3.60187E-5 41645 0 2.02552E-5
6-135271190-A-G p.Met1? start_lost ALDH8A1 1 83286 1.20068E-5 41643 0 NA
6-135271191-T-C p.Met1? start_lost ALDH8A1 1 83272 1.20088E-5 41636 0 1.27372E-4
6-135271223-G-A c.-32C>T 5_prime_UTR_premature_start_codon_gain ALDH8A1 26 83052 3.13057E-4 41526 0 2.87667E-4
6-135271250-C-T c.-59G>A 5_prime_UTR_premature_start_codon_gain ALDH8A1 56 81800 6.84597E-4 40900 0 8.28078E-4