Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-101419856-C-T c.-257C>T 5_prime_UTR_premature_start_codon_gain ALDH1A3 1 2046 4.88759E-4 1023 0 1.11865E-4
15-101419869-C-G c.-244C>G 5_prime_UTR_premature_start_codon_gain ALDH1A3 1 5340 1.87266E-4 2670 0 NA
15-101419995-G-C c.-118G>C 5_prime_UTR_premature_start_codon_gain ALDH1A3 1 28844 3.46693E-5 14422 0 NA
15-101420059-C-T c.-54C>T 5_prime_UTR_premature_start_codon_gain ALDH1A3 2 39282 5.09139E-5 19641 0 NA
15-101420080-A-G c.-33A>G 5_prime_UTR_premature_start_codon_gain ALDH1A3 1 42728 2.34039E-5 21364 0 NA
15-101420128-G-C p.Gly6Arg missense ALDH1A3 2 53050 3.77003E-5 26525 0 3.24233E-5
15-101420133-C-A p.Ala7Ala synonymous ALDH1A3 1 53728 1.86123E-5 26864 0 1.22923E-5
15-101420133-C-T p.Ala7Ala synonymous ALDH1A3 1 53728 1.86123E-5 26864 0 NA
15-101420135-T-A p.Val8Glu missense ALDH1A3 1 54294 1.84182E-5 27147 0 NA
15-101420136-GG-TA p.ValGlu8ValLys missense ALDH1A3 1 54506 1.83466E-5 27253 0 NA
15-101420140-A-G p.Asn10Asp missense ALDH1A3 1 55068 1.81594E-5 27534 0 NA
15-101420151-G-C p.Pro13Pro synonymous ALDH1A3 2 56540 3.53732E-5 28270 0 NA
15-101420155-A-G p.Arg15Gly missense ALDH1A3 295 57058 0.00517018 28529 0 0.00491846
15-101420161-C-T p.Pro17Ser missense ALDH1A3 1 57430 1.74125E-5 28715 0 NA
15-101420163-G-A p.Pro17Pro synonymous ALDH1A3 1 57550 1.73762E-5 28775 0 NA
15-101420181-C-T p.Pro23Pro synonymous ALDH1A3 1 59524 1.67999E-5 29762 0 1.93249E-4
15-101420183-T-C p.Ile24Thr missense ALDH1A3 3 59490 5.04286E-5 29745 0 1.14995E-5
15-101420188-A-C p.Asn26His missense ALDH1A3 1 59500 1.68067E-5 29750 0 3.22581E-5
15-101420215-A-T p.Arg35Trp missense ALDH1A3 1 57316 1.74471E-5 28658 0 2.46585E-5
15-101420218-C-A c.99+7C>A splice_region ALDH1A3 3 56542 5.30579E-5 28271 0 6.49604E-5
15-101420225-C-G p.Pro38Arg missense ALDH1A3 1 54136 1.8472E-5 27068 0 NA
15-101420226-C-T p.Pro38Pro synonymous ALDH1A3 31 54220 5.71745E-4 27110 0 3.016E-4
15-101420228-T-C p.Leu39Pro missense ALDH1A3 3 53148 5.64462E-5 26574 0 0.00162053
15-101420232-A-C p.Pro40Pro synonymous ALDH1A3 1 52214 1.9152E-5 26107 0 0.00125543
15-101420247-G-T p.Gly45Gly synonymous ALDH1A3 1 48950 2.0429E-5 24475 0 3.24633E-5
15-101420256-C-T p.Arg48Arg synonymous ALDH1A3 5 46462 1.07615E-4 23231 0 NA
15-101420259-G-A p.Trp49* stop_gained ALDH1A3 4 45176 8.85426E-5 22588 0 1.71233E-4
15-101420272-G-C p.Gly54Arg missense ALDH1A3 4 41074 9.73852E-5 20537 0 NA
15-101420274-G-A p.Gly54Gly synonymous ALDH1A3 1 40740 2.45459E-5 20370 0 NA
15-101420275-G-A p.Ala55Thr missense ALDH1A3 12 40340 2.97472E-4 20170 0 2.91999E-4
15-101420277-G-A p.Ala55Ala synonymous ALDH1A3 1 39402 2.53794E-5 19701 0 NA
15-101420284-G-A p.Ala58Thr missense ALDH1A3 1 37708 2.65196E-5 18854 0 3.24086E-5
15-101420300-C-T p.Ala63Val missense ALDH1A3 1 33874 2.95212E-5 16937 0 NA
15-101420301-CG-C p.Gly65fs frameshift ALDH1A3 1 33534 2.98205E-5 16767 0 3.25098E-5
15-101420309-C-T p.Pro66Leu missense ALDH1A3 31 32078 9.66394E-4 16039 0 1.62602E-4
15-101420320-GC-TT p.Ala70Phe missense ALDH1A3 14 30762 4.55107E-4 15381 0 NA
15-101420320-G-T p.Ala70Ser missense ALDH1A3 3 30762 9.75229E-5 15381 0 0.00429799
15-101420321-C-T p.Ala70Val missense ALDH1A3 1 30754 3.25161E-5 15377 0 0.00428571
15-101420330-G-T p.Arg73Leu missense ALDH1A3 94 30144 0.00311837 15072 0 0.00420168
15-101420340-GC-G p.Arg79fs frameshift ALDH1A3 21 28774 7.29826E-4 14387 0 3.88878E-4
15-101420340-G-A p.Leu76Leu synonymous ALDH1A3 3 28774 1.04261E-4 14387 0 4.53691E-4
15-101420343-C-G p.Pro77Pro synonymous ALDH1A3 5 28386 1.76143E-4 14193 0 NA
15-101420345-GGCGCGGCTCTCCA-G p.Arg79fs frameshift ALDH1A3 13 28066 4.63194E-4 14033 0 3.88023E-4
15-101420348-G-A p.Arg79His missense ALDH1A3 2 27728 7.21293E-5 13864 0 6.47794E-5
15-101420352-C-G p.Gly80Gly synonymous ALDH1A3 18 27526 6.53927E-4 13763 0 0.00225225
15-101420358-A-G p.Pro82Pro synonymous ALDH1A3 1 26660 3.75094E-5 13330 0 NA
15-101420364-C-G p.Thr84Thr synonymous ALDH1A3 1 25698 3.89135E-5 12849 0 NA
15-101420378-G-A p.Gly89Glu missense ALDH1A3 25 23080 0.00108319 11540 0 0.00136612
15-101420380-C-G p.Arg90Gly missense ALDH1A3 1 22448 4.45474E-5 11224 0 NA
15-101420382-T-A p.Arg90Arg synonymous ALDH1A3 1 21802 4.58674E-5 10901 0 NA
15-101420393-A-G p.Asp94Gly missense ALDH1A3 4 19528 2.04834E-4 9764 0 NA
15-101420413-G-A p.Ala101Thr missense ALDH1A3 64 15288 0.00418629 7644 0 0.00743161
15-101420417-T-C p.Leu102Pro missense ALDH1A3 6 14546 4.12485E-4 7273 0 9.6197E-5
15-101425467-G-T c.100-5G>T splice_region ALDH1A3 1 83208 1.20181E-5 41604 0 8.24742E-6
15-101425470-A-G c.100-2A>G splice_acceptor ALDH1A3 1 83226 1.20155E-5 41613 0 3.1835E-5
15-101425478-A-G p.Ile36Val missense ALDH1A3 1 83288 1.20065E-5 41644 0 1.64867E-5
15-101425495-C-G p.His41Gln missense ALDH1A3 42 83328 5.04032E-4 41664 0 9.86884E-4
15-101425495-C-T p.His41His synonymous ALDH1A3 1 83332 1.20002E-5 41666 0 3.977E-6
15-101425513-A-G p.Lys47Lys synonymous ALDH1A3 1 83342 1.19988E-5 41671 0 8.23927E-6
15-101425541-C-A p.Arg57Arg synonymous ALDH1A3 1 83330 1.20005E-5 41665 0 NA
15-101425576-G-A p.Lys68Lys splice_region+synonymous ALDH1A3 2 83206 2.40367E-5 41603 0 NA
15-101425581-A-C c.204+5A>C splice_region ALDH1A3 176 83166 0.00211625 41583 0 0.00461725
15-101427771-G-A c.205-6G>A splice_region ALDH1A3 3 82586 3.63258E-5 41293 0 3.1841E-5
15-101427775-A-G c.205-2A>G splice_acceptor ALDH1A3 1 82658 1.2098E-5 41329 0 3.1835E-5
15-101427779-C-A p.Pro69Pro splice_region+synonymous ALDH1A3 2 82730 2.4175E-5 41365 0 8.59668E-6
15-101427782-C-T p.Asp70Asp synonymous ALDH1A3 2 82862 2.41365E-5 41431 0 1.67442E-5
15-101427785-G-T p.Val71Val synonymous ALDH1A3 3 82964 3.61603E-5 41482 0 8.50311E-6
15-101427806-A-T p.Ala78Ala synonymous ALDH1A3 1 83084 1.2036E-5 41542 0 NA
15-101427825-G-A p.Gly85Ser missense ALDH1A3 1 83080 1.20366E-5 41540 0 2.22902E-4
15-101427830-G-C p.Ser86Ser synonymous ALDH1A3 4 83048 4.81649E-5 41524 0 NA
15-101427830-G-A p.Ser86Ser synonymous ALDH1A3 3 83050 3.61228E-5 41525 0 4.16875E-5
15-101427840-C-T p.Arg90Trp missense ALDH1A3 1 83008 1.2047E-5 41504 0 4.01952E-6
15-101427841-G-A p.Arg90Gln missense ALDH1A3 1 83004 1.20476E-5 41502 0 6.36902E-5
15-101427854-G-T p.Leu94Leu synonymous ALDH1A3 3 82982 3.61524E-5 41491 0 8.04201E-6
15-101427864-C-T p.Arg98Trp missense ALDH1A3 1 82890 1.20642E-5 41445 0 4.0374E-6
15-101427899-G-A p.Arg109Arg synonymous ALDH1A3 217 82576 0.00262788 41288 1 0.00175719
15-101427902-C-T p.Asp110Asp synonymous ALDH1A3 1 82406 1.2135E-5 41203 0 NA
15-101427905-C-T p.Arg111Arg synonymous ALDH1A3 3 82196 3.64981E-5 41098 0 5.79638E-5
15-101427906-G-A p.Ala112Thr missense ALDH1A3 2 82156 2.43439E-5 41078 0 3.75247E-5
15-101427918-G-A c.345+1G>A splice_donor ALDH1A3 1 81672 1.22441E-5 40836 0 4.2653E-6
15-101432268-G-A n.406-6G>A splice_region ALDH1A3 115 44588 0.00257917 22294 0 0.013125
15-101432272-A-T n.406-2A>T splice_acceptor ALDH1A3 1 44618 2.24125E-5 22309 0 3.18674E-5
15-101432276-C-A n.408C>A splice_region ALDH1A3 1 44832 2.23055E-5 22416 0 NA
15-101432709-T-C c.346-6T>C splice_region ALDH1A3 1 83346 1.19982E-5 41673 0 NA
15-101432715-G-A p.Ala116Thr missense+splice_region ALDH1A3 1 83346 1.19982E-5 41673 0 3.18431E-5
15-101432717-C-T p.Ala116Ala splice_region+synonymous ALDH1A3 1 83346 1.19982E-5 41673 0 4.00933E-6
15-101432726-G-A p.Thr119Thr synonymous ALDH1A3 1 83354 1.1997E-5 41677 0 3.1837E-5
15-101432735-A-G p.Thr122Thr synonymous ALDH1A3 1 83358 1.19964E-5 41679 0 NA
15-101432750-T-G p.Leu127Leu synonymous ALDH1A3 1 83370 1.19947E-5 41685 0 4.00407E-6
15-101432752-A-T p.His128Leu missense ALDH1A3 2 83372 2.39889E-5 41686 0 NA
15-101432765-C-T p.Ile132Ile synonymous ALDH1A3 3 83372 3.59833E-5 41686 0 6.3804E-5
15-101432778-T-C p.Cys137Arg missense ALDH1A3 1 83374 1.19941E-5 41687 0 NA
15-101432786-A-G p.Arg139Arg synonymous ALDH1A3 1 83378 1.19936E-5 41689 0 NA
15-101432799-T-C p.Phe144Leu missense ALDH1A3 1 83376 1.19939E-5 41688 0 NA
15-101432800-T-A p.Phe144Tyr missense ALDH1A3 1 83372 1.19944E-5 41686 0 9.06275E-5
15-101432801-T-C p.Phe144Phe synonymous ALDH1A3 2 83376 2.39877E-5 41688 0 NA
15-101432802-G-T p.Ala145Ser missense ALDH1A3 2 83374 2.39883E-5 41687 0 NA
15-101432816-C-A p.Asp149Glu missense ALDH1A3 2 83362 2.39917E-5 41681 0 NA
15-101432841-A-G p.Thr158Ala missense ALDH1A3 1 83348 1.19979E-5 41674 0 NA
15-101432843-A-G p.Thr158Thr splice_region+synonymous ALDH1A3 1 83350 1.19976E-5 41675 0 NA
15-101432845-G-T c.475+1G>T splice_donor ALDH1A3 2 83348 2.39958E-5 41674 0 4.14295E-6
15-101432847-G-A c.475+3G>A splice_region ALDH1A3 4 83340 4.79962E-5 41670 0 NA
15-101433142-T-C c.476-8T>C splice_region ALDH1A3 4 83360 4.79846E-5 41680 1 NA
15-101433151-T-C p.Met116Thr missense+splice_region ALDH1A3 1 83366 1.19953E-5 41683 0 1.65232E-5
15-101433157-C-T p.Thr118Met missense ALDH1A3 1 83370 1.19947E-5 41685 0 3.18492E-5
15-101433158-G-A p.Val162Ile missense ALDH1A3 1 83374 1.19941E-5 41687 0 1.59113E-5
15-101433160-C-T p.Ser119Leu missense ALDH1A3 1 83374 1.19941E-5 41687 0 1.65106E-5
15-101433161-G-A p.Val163Met missense ALDH1A3 9 83368 1.07955E-4 41684 0 4.14065E-4
15-101433182-C-G p.Pro170Ala missense ALDH1A3 1 83344 1.19985E-5 41672 0 1.65117E-5
15-101434154-C-T c.538-5C>T splice_region ALDH1A3 3 83246 3.60378E-5 41623 0 1.41248E-4
15-101434155-G-A c.538-4G>A splice_region ALDH1A3 1 83246 1.20126E-5 41623 0 3.18512E-5
15-101434160-G-A p.Trp180* stop_gained ALDH1A3 1 83264 1.201E-5 41632 0 NA
15-101434168-C-T p.Pro183Ser missense ALDH1A3 1 83304 1.20042E-5 41652 0 3.98026E-6
15-101434197-A-G p.Ala192Ala synonymous ALDH1A3 1 83310 1.20034E-5 41655 0 7.95507E-6
15-101434201-G-A p.Ala194Thr missense ALDH1A3 1 83302 1.20045E-5 41651 0 3.18573E-5
15-101434203-C-A p.Ala194Ala synonymous ALDH1A3 1 83304 1.20042E-5 41652 0 9.55779E-5
15-101434206-C-T p.Leu195Leu synonymous ALDH1A3 1 83304 1.20042E-5 41652 0 1.19312E-5
15-101434227-C-A p.Val202Val synonymous ALDH1A3 2 83336 2.39992E-5 41668 0 NA
15-101434238-C-T p.Ala206Val missense ALDH1A3 1 83340 1.1999E-5 41670 0 NA
15-101434239-G-A p.Ala206Ala synonymous ALDH1A3 4 83346 4.79927E-5 41673 0 2.38626E-5
15-101434258-G-A p.Ala213Thr missense ALDH1A3 2 83354 2.3994E-5 41677 0 6.37227E-5
15-101434269-C-T p.Leu216Leu synonymous ALDH1A3 2 83338 2.39987E-5 41669 0 5.03525E-4
15-101434270-G-A p.Gly217Ser missense ALDH1A3 3 83344 3.59954E-5 41672 0 3.18695E-5
15-101436130-C-T c.667-8C>T splice_region ALDH1A3 1 82216 1.21631E-5 41108 0 3.18451E-5
15-101436139-C-T p.Ala223Val missense+splice_region ALDH1A3 1 82286 1.21527E-5 41143 0 NA
15-101436140-C-T p.Ala223Ala splice_region+synonymous ALDH1A3 2 82338 2.42901E-5 41169 0 2.02487E-5
15-101436141-G-A p.Gly224Arg missense ALDH1A3 1 82378 1.21392E-5 41189 0 6.36821E-5
15-101436152-A-G p.Pro227Pro synonymous ALDH1A3 1 82578 1.21098E-5 41289 0 5.03525E-4
15-101436161-G-A p.Val230Val synonymous ALDH1A3 102 82722 0.00123305 41361 0 8.48848E-4
15-101436179-C-T p.Phe236Phe synonymous ALDH1A3 20 82818 2.41493E-4 41409 0 0.00251762
15-101436185-C-T p.Pro238Pro synonymous ALDH1A3 1 82846 1.20706E-5 41423 0 3.18431E-5
15-101436190-T-C p.Val240Ala missense ALDH1A3 2 82844 2.41418E-5 41422 0 3.18573E-5
15-101436203-T-A p.Ile244Ile synonymous ALDH1A3 2 82830 2.41458E-5 41415 0 NA
15-101436215-T-A p.Pro248Pro synonymous ALDH1A3 1 82698 1.20922E-5 41349 0 4.99052E-5
15-101436217-A-T p.Gln249Leu missense ALDH1A3 1 82690 1.20934E-5 41345 0 NA
15-101436221-C-T p.Ile250Ile synonymous ALDH1A3 1 82634 1.21016E-5 41317 0 2.08017E-5
15-101436230-C-T p.Ile253Ile synonymous ALDH1A3 1 82524 1.21177E-5 41262 0 NA
15-101436239-C-T p.Thr256Thr synonymous ALDH1A3 5 82478 6.06222E-5 41239 0 0.0020141
15-101436243-T-A p.Ser258Thr missense ALDH1A3 3 82356 3.64272E-5 41178 0 4.16823E-6
15-101436244-C-T p.Ser258Phe missense ALDH1A3 2 82346 2.42878E-5 41173 0 NA
15-101436245-C-T p.Ser258Ser synonymous ALDH1A3 1 82366 1.21409E-5 41183 0 3.1839E-5
15-101438281-C-T c.781-7C>T splice_region ALDH1A3 1 83256 1.20111E-5 41628 0 NA
15-101438282-C-T c.781-6C>T splice_region ALDH1A3 2 83262 2.40206E-5 41631 0 4.95835E-5
15-101438283-T-C c.781-5T>C splice_region ALDH1A3 1 83270 1.20091E-5 41635 0 8.26337E-6
15-101438311-T-C p.Ala268Ala synonymous ALDH1A3 1 83292 1.2006E-5 41646 0 NA
15-101438314-G-A p.Ala269Ala synonymous ALDH1A3 31 83294 3.72176E-4 41647 0 7.96381E-4
15-101438318-C-T p.Arg271Trp missense ALDH1A3 1 83292 1.2006E-5 41646 0 3.30049E-5
15-101438319-G-A p.Arg271Gln missense ALDH1A3 4 83296 4.80215E-5 41648 0 7.959E-5
15-101438325-A-G p.Asn273Ser missense ALDH1A3 1 83286 1.20068E-5 41643 0 8.25082E-6
15-101438335-G-C p.Arg276Arg synonymous ALDH1A3 1 83258 1.20109E-5 41629 0 3.18451E-5
15-101438335-G-A p.Arg276Arg synonymous ALDH1A3 1 83258 1.20109E-5 41629 0 3.97934E-6
15-101438340-C-T p.Thr278Met missense ALDH1A3 2 83234 2.40286E-5 41617 0 6.25E-4
15-101438341-G-A p.Thr278Thr synonymous ALDH1A3 4 83236 4.80561E-5 41618 0 1.11422E-4
15-101438349-T-TG p.Lys284fs frameshift ALDH1A3 4 83214 4.80688E-5 41607 0 2.97782E-4
15-101438349-TG-T p.Lys284fs frameshift ALDH1A3 1 83224 1.20158E-5 41612 0 NA
15-101438350-G-T p.Leu281Leu synonymous ALDH1A3 2 83216 2.40338E-5 41608 0 9.55597E-5
15-101438350-G-A p.Leu281Leu synonymous ALDH1A3 1 83218 1.20166E-5 41609 0 3.98759E-6
15-101438351-G-A p.Gly282Arg missense ALDH1A3 1 83220 1.20163E-5 41610 0 1.19429E-5
15-101438352-G-C p.Gly282Ala missense ALDH1A3 4 83214 4.80688E-5 41607 0 4.12984E-5
15-101438355-G-T p.Gly283Val missense ALDH1A3 1 83208 1.20181E-5 41604 0 NA
15-101438357-A-G p.Lys284Glu missense ALDH1A3 1 83168 1.20239E-5 41584 0 NA
15-101438358-A-G p.Lys284Arg missense ALDH1A3 1 83182 1.20218E-5 41591 0 3.97864E-6
15-101438359-G-A p.Lys284Lys synonymous ALDH1A3 1 83170 1.20236E-5 41585 0 6.36902E-5
15-101438365-C-T p.Pro286Pro synonymous ALDH1A3 5 83152 6.01308E-5 41576 0 1.98951E-5
15-101438380-G-A p.Ala291Ala synonymous ALDH1A3 4 83012 4.81858E-5 41506 0 3.98333E-5
15-101438383-C-T p.Asp292Asp synonymous ALDH1A3 2 82966 2.41063E-5 41483 0 4.16285E-5
15-101440774-C-A c.884-6C>A splice_region ALDH1A3 2 82026 2.43825E-5 41013 0 3.45447E-4
15-101440782-G-A p.Asp296Asn missense+splice_region ALDH1A3 1 82130 1.21758E-5 41065 0 4.96037E-6
15-101440817-C-T p.Phe307Phe synonymous ALDH1A3 1 82518 1.21186E-5 41259 0 NA
15-101440841-G-T p.Thr315Thr synonymous ALDH1A3 40 82736 4.83465E-4 41368 0 0.00151057
15-101440841-G-A p.Thr315Thr synonymous ALDH1A3 1 82736 1.20866E-5 41368 0 NA
15-101440859-C-G p.Phe321Leu missense ALDH1A3 1 82844 1.20709E-5 41422 0 NA
15-101440862-G-A p.Val322Val synonymous ALDH1A3 1 82908 1.20616E-5 41454 0 9.01632E-6
15-101440868-G-C p.Glu324Asp missense ALDH1A3 1 82942 1.20566E-5 41471 0 NA
15-101440869-C-G p.Gln325Glu missense ALDH1A3 1 82928 1.20587E-5 41464 0 3.18492E-5
15-101440874-C-G p.Val326Val synonymous ALDH1A3 1 83002 1.20479E-5 41501 0 1.19532E-5
15-101440883-G-A p.Glu329Glu synonymous ALDH1A3 15 83074 1.80562E-4 41537 0 6.0525E-4
15-101440898-C-T p.Ser334Ser synonymous ALDH1A3 8 83046 9.63322E-5 41523 0 0.0020141
15-101440917-C-T p.Arg341Trp missense ALDH1A3 2 83030 2.40877E-5 41515 0 3.18817E-5
15-101440918-G-A p.Arg341Gln missense ALDH1A3 3 82992 3.61481E-5 41496 1 NA
15-101440922-C-T p.Pro342Pro synonymous ALDH1A3 6 82960 7.2324E-5 41480 0 2.55053E-4
15-101440922-C-G p.Pro342Pro synonymous ALDH1A3 2 82960 2.4108E-5 41480 0 1.67963E-5
15-101440922-C-A p.Pro342Pro synonymous ALDH1A3 3 82960 3.6162E-5 41480 0 NA
15-101440923-G-A p.Val343Met missense ALDH1A3 1 82936 1.20575E-5 41468 0 2.51931E-5
15-101440923-G-C p.Val343Leu missense ALDH1A3 1 82936 1.20575E-5 41468 0 NA
15-101440938-G-A p.Asp348Asn missense ALDH1A3 6 82812 7.24533E-5 41406 0 2.39372E-5
15-101440960-C-G p.Pro355Arg missense ALDH1A3 1 82452 1.21283E-5 41226 0 NA
15-101445745-C-T p.Phe362Phe synonymous ALDH1A3 4 83318 4.80088E-5 41659 0 7.41852E-5
15-101445745-C-G p.Phe362Leu missense ALDH1A3 1 83318 1.20022E-5 41659 0 3.97776E-6
15-101445746-G-A p.Asp363Asn missense ALDH1A3 1 83324 1.20013E-5 41662 0 5.76996E-5
15-101445746-G-C p.Asp363His missense ALDH1A3 3 83324 3.6004E-5 41662 0 8.2428E-6
15-101445747-A-G p.Asp363Gly missense ALDH1A3 2 83320 2.40038E-5 41660 0 NA
15-101445759-A-G p.Glu367Gly missense ALDH1A3 1 83334 1.19999E-5 41667 0 NA
15-101445761-C-T p.Leu368Leu synonymous ALDH1A3 1 83334 1.19999E-5 41667 0 NA
15-101445766-C-A p.Ile369Ile synonymous ALDH1A3 20 83338 2.39987E-4 41669 0 0.00149576
15-101445772-T-C p.Ser371Ser synonymous ALDH1A3 1 83344 1.19985E-5 41672 0 NA
15-101445785-G-A p.Gly376Arg missense ALDH1A3 2 83348 2.39958E-5 41674 0 NA
15-101445787-G-C p.Gly376Gly synonymous ALDH1A3 1 83348 1.19979E-5 41674 0 NA
15-101445793-G-A p.Lys378Lys synonymous ALDH1A3 260 83342 0.00311968 41671 2 0.00654582
15-101445802-C-T p.Cys381Cys synonymous ALDH1A3 19 83350 2.27954E-4 41675 0 3.18613E-4
15-101445802-C-G p.Cys381Trp missense ALDH1A3 1 83350 1.19976E-5 41675 0 NA
15-101445805-G-A p.Gly382Gly synonymous ALDH1A3 1 83348 1.19979E-5 41674 0 NA
15-101445805-G-T p.Gly382Gly synonymous ALDH1A3 1 83348 1.19979E-5 41674 0 3.98283E-6
15-101445815-A-G p.Met386Val missense ALDH1A3 5752 83214 0.069123 41607 447 0.10202
15-101445876-G-A p.Arg406Gln missense ALDH1A3 2 83186 2.40425E-5 41593 0 6.37105E-5
15-101445888-A-T p.Glu410Val missense ALDH1A3 1 83056 1.20401E-5 41528 0 NA
15-101445900-G-A c.1233+8G>A splice_region ALDH1A3 13946 82130 0.169804 41065 1200 0.222229
15-101445900-GGG-AGT c.1233+8_1233+10delGGGinsAGT splice_region ALDH1A3 6 82884 7.23903E-5 41442 0 NA
15-101447323-T-C c.1234-3T>C splice_region ALDH1A3 1 83278 1.2008E-5 41639 0 3.1841E-5
15-101447331-C-T p.Phe413Phe synonymous ALDH1A3 1 83290 1.20062E-5 41645 0 2.47975E-5
15-101447360-A-G p.Lys423Arg missense ALDH1A3 1 83328 1.20008E-5 41664 0 3.18451E-5
15-101447367-C-T p.Ile425Ile synonymous ALDH1A3 1 83344 1.19985E-5 41672 0 1.19345E-5
15-101447378-T-TA p.Arg431fs frameshift ALDH1A3 1 83364 1.19956E-5 41682 0 NA
15-101447385-A-G p.Arg431Arg synonymous ALDH1A3 3 83362 3.59876E-5 41681 0 9.55597E-5
15-101447387-C-T p.Ala432Val missense ALDH1A3 7 83364 8.39691E-5 41682 0 4.11868E-5
15-101447398-G-A p.Asp436Asn missense ALDH1A3 40 83382 4.7972E-4 41691 0 2.66438E-4
15-101447409-C-T p.Leu439Leu synonymous ALDH1A3 1 83386 1.19924E-5 41693 0 NA
15-101447426-C-A p.Thr445Lys missense ALDH1A3 4 83386 4.79697E-5 41693 0 8.2375E-6
15-101447436-C-T p.Leu448Leu synonymous ALDH1A3 20 83384 2.39854E-4 41692 0 1.59215E-4
15-101447437-G-A p.Asp449Asn missense ALDH1A3 1 83388 1.19921E-5 41694 0 1.98836E-5
15-101447441-A-G p.Lys450Arg missense ALDH1A3 1 83380 1.19933E-5 41690 0 3.18451E-4
15-101447450-A-C p.Lys453Thr missense ALDH1A3 5 83388 5.99607E-5 41694 0 6.36862E-5
15-101447456-C-G p.Ala455Gly missense ALDH1A3 1 83386 1.19924E-5 41693 0 NA
15-101447457-T-G p.Ala455Ala synonymous ALDH1A3 9 83386 1.07932E-4 41693 0 6.25E-4
15-101447466-A-G p.Leu458Leu synonymous ALDH1A3 4 83378 4.79743E-5 41689 0 3.1837E-5
15-101447477-C-T p.Thr462Met missense ALDH1A3 9 83368 1.07955E-4 41684 0 1.27364E-4
15-101447478-G-A p.Thr462Thr synonymous ALDH1A3 61 83364 7.31731E-4 41682 1 0.0025
15-101447478-G-T p.Thr462Thr synonymous ALDH1A3 3 83364 3.59868E-5 41682 0 6.39422E-5
15-101447481-C-T p.Val463Val splice_region+synonymous ALDH1A3 1 83362 1.19959E-5 41681 0 NA
15-101448608-T-C c.1392-5T>C splice_region ALDH1A3 1 83278 1.2008E-5 41639 0 NA
15-101448621-GC-G p.Tyr468fs frameshift ALDH1A3 1 83330 1.20005E-5 41665 0 NA
15-101448628-C-T p.Asn469Asn synonymous ALDH1A3 96 83332 0.00115202 41666 1 0.00315647
15-101448629-G-A p.Ala470Thr missense ALDH1A3 47 83332 5.64009E-4 41666 0 6.25E-4
15-101448679-C-T p.Gly486Gly synonymous ALDH1A3 1 83314 1.20028E-5 41657 0 1.48375E-4
15-101448679-C-G p.Gly486Gly synonymous ALDH1A3 1 83314 1.20028E-5 41657 0 8.24307E-6
15-101454915-C-T p.Tyr492Tyr synonymous ALDH1A3 6 83288 7.20392E-5 41644 0 1.91095E-4
15-101454916-G-A p.Ala493Thr missense ALDH1A3 1 83290 1.20062E-5 41645 0 8.41836E-6
15-101454924-C-T p.Ala495Ala synonymous ALDH1A3 13 83292 1.56077E-4 41646 0 2.01076E-4
15-101454928-T-A p.Tyr497Asn missense ALDH1A3 4 83312 4.80123E-5 41656 1 3.97867E-6
15-101454964-G-A p.Asp509Asn missense ALDH1A3 5 83334 5.99995E-5 41667 0 5.03525E-4
15-101454966-C-T p.Asp509Asp synonymous ALDH1A3 15 83330 1.80007E-4 41665 0 1.00346E-4
15-101454972-C-T p.Asn511Asn synonymous ALDH1A3 1 83324 1.20013E-5 41662 0 1.19418E-5
15-101454972-C-A p.Asn511Lys missense ALDH1A3 2 83324 2.40027E-5 41662 0 3.58255E-5
15-101456831-A-G c.*1853A>G splice_region ALDH1A3 2 28640 6.98324E-5 14320 0 NA