Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-24495134-C-T c.-17+4C>T splice_region ALDH5A1 2 32960 6.06796E-5 16480 0 NA
6-24495175-G-A c.-50G>A 5_prime_UTR_premature_start_codon_gain ALDH5A1 4 34772 1.15035E-4 17386 0 3.45686E-5
6-24495229-C-T p.Ala2Val missense ALDH5A1 2 36212 5.52303E-5 18106 0 1.71444E-5
6-24495234-T-G p.Cys4Gly missense ALDH5A1 121 36158 0.00334642 18079 0 0.0110798
6-24495236-C-T p.Cys4Cys synonymous ALDH5A1 1 36166 2.76503E-5 18083 0 3.19693E-4
6-24495237-A-G p.Ile5Val missense ALDH5A1 13 36102 3.60091E-4 18051 0 0.00207469
6-24495242-G-T p.Trp6Cys missense ALDH5A1 4 36004 1.11099E-4 18002 0 9.8888E-4
6-24495246-C-A p.Arg8Arg synonymous ALDH5A1 1 35844 2.78987E-5 17922 0 NA
6-24495246-C-T p.Arg8Trp missense ALDH5A1 2 35844 5.57973E-5 17922 0 2.28667E-4
6-24495252-T-C p.Cys10Arg missense ALDH5A1 1 35900 2.78552E-5 17950 0 9.62526E-5
6-24495256-G-A p.Gly11Glu missense ALDH5A1 3 35850 8.3682E-5 17925 0 1.28254E-4
6-24495264-C-A p.Arg14Ser missense ALDH5A1 1 35588 2.80994E-5 17794 0 NA
6-24495268-T-G p.Leu15Arg missense ALDH5A1 3 35508 8.4488E-5 17754 0 6.42674E-4
6-24495272-G-T p.Gly16Gly synonymous ALDH5A1 2 35602 5.61766E-5 17801 0 0.00260688
6-24495274-C-T p.Ser17Leu missense ALDH5A1 20 35528 5.62936E-4 17764 0 1.60761E-4
6-24495275-G-A p.Ser17Ser synonymous ALDH5A1 1 35542 2.81357E-5 17771 0 6.4433E-4
6-24495286-G-A p.Gly21Asp missense ALDH5A1 2 35356 5.65675E-5 17678 0 0.00105042
6-24495303-C-G p.Arg27Gly missense ALDH5A1 3 34930 8.58861E-5 17465 0 1.29291E-4
6-24495304-G-T p.Arg27Leu missense ALDH5A1 1 34854 2.86911E-5 17427 0 NA
6-24495310-G-A p.Gly29Asp missense ALDH5A1 1 34758 2.87704E-5 17379 0 3.36564E-5
6-24495310-G-C p.Gly29Ala missense ALDH5A1 2 34758 5.75407E-5 17379 0 3.36564E-5
6-24495320-C-G p.Val32Val synonymous ALDH5A1 1 35052 2.8529E-5 17526 0 NA
6-24495326-C-G p.Ala34Ala synonymous ALDH5A1 4 35092 1.13986E-4 17546 0 2.2686E-4
6-24495329-C-T p.Ser35Ser synonymous ALDH5A1 1 34876 2.8673E-5 17438 0 NA
6-24495330-G-C p.Gly36Arg missense ALDH5A1 1136 34804 0.0326399 17402 34 0.152137
6-24495330-G-A p.Gly36Arg missense ALDH5A1 1 34844 2.86993E-5 17422 0 NA
6-24495331-G-T p.Gly36Val missense ALDH5A1 2 34942 5.72377E-5 17471 0 NA
6-24495336-G-A p.Ala38Thr missense ALDH5A1 1 34596 2.89051E-5 17298 0 NA
6-24495337-C-T p.Ala38Val missense ALDH5A1 2 34570 5.78536E-5 17285 0 NA
6-24495340-C-G p.Pro39Arg missense ALDH5A1 1 34542 2.89503E-5 17271 0 NA
6-24495342-G-C p.Gly40Arg missense ALDH5A1 1 34594 2.89067E-5 17297 0 NA
6-24495354-C-G p.Leu44Val missense ALDH5A1 36 37326 9.64475E-4 18663 0 0.00181806
6-24495371-G-T p.Gly49Gly synonymous ALDH5A1 1 38010 2.63089E-5 19005 0 1.07569E-4
6-24495375-C-G p.Leu51Val missense ALDH5A1 1 38100 2.62467E-5 19050 0 NA
6-24495378-G-A p.Ala52Thr missense ALDH5A1 2 38326 5.21839E-5 19163 0 6.48635E-5
6-24495388-C-T p.Ser55Phe missense ALDH5A1 1 39322 2.54311E-5 19661 0 3.23708E-5
6-24495392-G-C p.Ala56Ala synonymous ALDH5A1 1 39382 2.53923E-5 19691 0 3.2352E-5
6-24495399-C-T p.Leu59Leu synonymous ALDH5A1 3 39812 7.53542E-5 19906 0 3.55343E-4
6-24495401-G-C p.Leu59Leu synonymous ALDH5A1 1 39858 2.50891E-5 19929 0 NA
6-24495407-C-G p.Thr61Thr synonymous ALDH5A1 7 39942 1.75254E-4 19971 0 5.80833E-4
6-24495419-G-A p.Val65Val synonymous ALDH5A1 2 40044 4.99451E-5 20022 0 NA
6-24495438-GC-CT p.Ala72Leu missense ALDH5A1 1 40228 2.48583E-5 20114 0 NA
6-24495443-C-A p.Ala73Ala synonymous ALDH5A1 1 40264 2.48361E-5 20132 0 6.60265E-5
6-24495468-G-A p.Ala82Thr missense ALDH5A1 4 40590 9.85464E-5 20295 0 NA
6-24495482-T-C p.Ala86Ala synonymous ALDH5A1 1 40718 2.45592E-5 20359 0 NA
6-24495488-C-T p.Gly88Gly synonymous ALDH5A1 2 40910 4.88878E-5 20455 0 1.59877E-4
6-24495502-G-T p.Cys93Phe missense ALDH5A1 2 41106 4.86547E-5 20553 0 1.87617E-4
6-24495515-G-A p.Glu97Glu synonymous ALDH5A1 1 41344 2.41873E-5 20672 0 7.80725E-6
6-24495517-C-G p.Ala98Gly missense ALDH5A1 4 41330 9.6782E-5 20665 0 7.02516E-4
6-24495524-C-A p.Ala100Ala synonymous ALDH5A1 1 41306 2.42096E-5 20653 0 NA
6-24495526-C-G p.Ala101Gly missense ALDH5A1 1 41322 2.42002E-5 20661 0 7.80555E-6
6-24495539-C-T p.Ala105Ala synonymous ALDH5A1 4 41448 9.65065E-5 20724 0 6.33714E-4
6-24495542-C-T p.Tyr106Tyr synonymous ALDH5A1 2 41480 4.8216E-5 20740 0 2.33798E-5
6-24495544-A-G p.Glu107Gly missense ALDH5A1 1 41446 2.41278E-5 20723 0 7.79606E-6
6-24495549-T-C p.Phe109Leu missense ALDH5A1 1 41506 2.40929E-5 20753 0 3.19E-5
6-24495561-A-T p.Arg113Trp missense ALDH5A1 1 41344 2.41873E-5 20672 0 NA
6-24495562-G-A p.Arg113Lys missense ALDH5A1 1 41370 2.41721E-5 20685 0 NA
6-24502747-G-C c.355-4G>C splice_region ALDH5A1 4 83214 4.80688E-5 41607 0 3.18532E-5
6-24502762-A-G p.Ser122Ser synonymous ALDH5A1 1 83262 1.20103E-5 41631 0 NA
6-24502799-A-C p.Lys135Gln missense ALDH5A1 1 83320 1.20019E-5 41660 0 NA
6-24502822-C-A p.Ile142Ile synonymous ALDH5A1 2 83276 2.40165E-5 41638 0 NA
6-24502842-C-G c.438+8C>G splice_region ALDH5A1 1 83134 1.20288E-5 41567 0 NA
6-24503501-T-G p.Leu150Arg missense ALDH5A1 1 83166 1.20241E-5 41583 0 NA
6-24503513-A-G p.His154Arg missense ALDH5A1 2 83110 2.40645E-5 41555 0 3.18552E-5
6-24503524-C-A p.Leu158Ile missense ALDH5A1 1 83060 1.20395E-5 41530 0 8.36736E-6
6-24503532-C-T p.Ser160Ser synonymous ALDH5A1 111 82982 0.00133764 41491 0 0.00200752
6-24503566-C-T p.Arg172Cys missense ALDH5A1 4 82858 4.82754E-5 41429 0 1.65793E-5
6-24503567-G-A p.Arg172His missense ALDH5A1 1 82824 1.20738E-5 41412 0 7.56779E-5
6-24503569-C-T p.Arg173Cys missense ALDH5A1 2 82856 2.41383E-5 41428 0 8.285E-6
6-24503570-G-A p.Arg173His missense ALDH5A1 9 82860 1.08617E-4 41430 0 6.25E-4
6-24503572-G-C p.Val174Leu missense ALDH5A1 1 82902 1.20624E-5 41451 0 1.19446E-5
6-24503577-C-T p.Tyr175Tyr synonymous ALDH5A1 4 82898 4.82521E-5 41449 0 0.00100806
6-24503584-A-G p.Ile178Val missense ALDH5A1 3 82932 3.61742E-5 41466 0 1.65511E-5
6-24503585-T-C p.Ile178Thr missense ALDH5A1 3 82946 3.61681E-5 41473 0 3.18573E-5
6-24503587-A-G p.Ile179Val missense ALDH5A1 1 82958 1.20543E-5 41479 0 NA
6-24503590-C-T p.His180Tyr missense ALDH5A1 25751 82214 0.313219 41107 4230 0.357302
6-24503593-A-G p.Thr181Ala missense ALDH5A1 1 82922 1.20595E-5 41461 0 3.18532E-5
6-24503594-C-T p.Thr181Ile missense ALDH5A1 6 82944 7.2338E-5 41472 0 1.91083E-4
6-24503597-C-T p.Pro182Leu missense ALDH5A1 2499 82872 0.0301549 41436 66 0.065
6-24503611-C-T p.Arg187Trp missense ALDH5A1 1 82954 1.20549E-5 41477 0 2.48876E-5
6-24503631-G-A p.Gln193Gln synonymous ALDH5A1 1 82808 1.20761E-5 41404 0 NA
6-24503635-A-G p.Ile195Val missense ALDH5A1 6 82768 7.24918E-5 41384 0 3.32707E-5
6-24503640-C-T p.Gly196Gly synonymous ALDH5A1 8 82704 9.67305E-5 41352 0 1.11895E-4
6-24503641-G-A p.Val197Met missense ALDH5A1 8 82688 9.67492E-5 41344 0 0.00101833
6-24503644-G-A p.Ala198Thr missense ALDH5A1 1 82650 1.20992E-5 41325 0 3.99955E-6
6-24503647-G-A p.Ala199Thr missense ALDH5A1 1 82590 1.2108E-5 41295 0 1.20037E-5
6-24503657-C-T p.Thr202Ile missense ALDH5A1 15 82462 1.81902E-4 41231 0 3.8219E-4
6-24503657-C-G p.Thr202Ser missense ALDH5A1 1 82464 1.21265E-5 41232 0 NA
6-24503658-C-A p.Thr202Thr synonymous ALDH5A1 4 82454 4.85119E-5 41227 0 6.37105E-5
6-24503661-G-A p.Pro203Pro splice_region+synonymous ALDH5A1 1 82376 1.21395E-5 41188 0 2.50715E-5
6-24503666-G-T c.609+5G>T splice_region ALDH5A1 1 82284 1.2153E-5 41142 0 3.18492E-5
6-24505092-C-T c.610-5C>T splice_region ALDH5A1 2314 83276 0.0277871 41638 110 0.0434907
6-24505099-G-A p.Trp204* stop_gained ALDH5A1 11 83352 1.3197E-4 41676 0 4.77164E-5
6-24505102-T-C p.Asn205Asn synonymous ALDH5A1 5 83364 5.99779E-5 41682 0 NA
6-24505104-TC-T p.Ser208fs frameshift ALDH5A1 1 83366 1.19953E-5 41683 0 3.9764E-6
6-24505109-A-T p.Ser208Cys missense ALDH5A1 1 83370 1.19947E-5 41685 0 NA
6-24505138-C-T p.Ala217Ala synonymous ALDH5A1 1 83356 1.19967E-5 41678 0 6.76025E-5
6-24505139-G-A p.Ala218Thr missense ALDH5A1 1 83352 1.19973E-5 41676 0 5.03525E-4
6-24505140-C-A p.Ala218Asp missense ALDH5A1 1 83362 1.19959E-5 41681 0 NA
6-24505150-C-T p.Ala221Ala synonymous ALDH5A1 2 83340 2.39981E-5 41670 0 3.1814E-5
6-24505151-G-A p.Gly222Ser missense ALDH5A1 3 83330 3.60014E-5 41665 0 1.59072E-5
6-24505154-T-C p.Cys223Arg missense ALDH5A1 1 83334 1.19999E-5 41667 0 3.97674E-6
6-24505155-G-A p.Cys223Tyr missense ALDH5A1 1 83332 1.20002E-5 41666 0 NA
6-24505162-C-T p.Val225Val synonymous ALDH5A1 1 83324 1.20013E-5 41662 0 7.41656E-5
6-24505165-G-C p.Val226Val synonymous ALDH5A1 304 83316 0.00364876 41658 3 0.00684408
6-24505165-G-A p.Val226Val synonymous ALDH5A1 5 83320 6.00096E-5 41660 0 6.36659E-5
6-24505171-G-A p.Lys228Lys synonymous ALDH5A1 4 83322 4.80065E-5 41661 0 9.55353E-5
6-24505177-C-T p.Ala230Ala synonymous ALDH5A1 2 83322 2.40033E-5 41661 0 6.36304E-5
6-24505179-A-G p.Glu231Gly missense ALDH5A1 1 83326 1.20011E-5 41663 0 1.19307E-5
6-24505183-C-T p.Asp232Asp synonymous ALDH5A1 5 83324 6.00067E-5 41662 0 4.12113E-5
6-24505185-C-T p.Thr233Met missense ALDH5A1 3 83322 3.60049E-5 41661 0 NA
6-24505186-G-A p.Thr233Thr synonymous ALDH5A1 1 83334 1.19999E-5 41667 0 1.9888E-5
6-24505187-C-T p.Pro234Ser missense ALDH5A1 8 83336 9.59969E-5 41668 0 NA
6-24505189-C-T p.Pro234Pro synonymous ALDH5A1 4 83334 4.79996E-5 41667 0 NA
6-24505196-G-T p.Ala237Ser missense ALDH5A1 1317 83266 0.0158168 41633 16 0.0196375
6-24505198-C-T p.Ala237Ala synonymous ALDH5A1 1 83310 1.20034E-5 41655 0 NA
6-24505216-G-A c.726+3G>A splice_region ALDH5A1 1243 83234 0.0149338 41617 14 0.021875
6-24505220-C-T c.726+7C>T splice_region ALDH5A1 2 83240 2.40269E-5 41620 0 5.57116E-5
6-24505220-C-G c.726+7C>G splice_region ALDH5A1 1 83240 1.20135E-5 41620 0 NA
6-24505221-G-A c.726+8G>A splice_region ALDH5A1 18113 82396 0.219829 41198 2040 0.257622
6-24512063-T-C p.Asn244Asn synonymous ALDH5A1 1 27972 3.575E-5 13986 0 6.9512E-5
6-24515401-A-G p.Ser258Gly missense ALDH5A1 4 83328 4.80031E-5 41664 0 8.23683E-6
6-24515403-C-G p.Ser258Arg missense ALDH5A1 7 83328 8.40054E-5 41664 0 1.37024E-4
6-24515406-G-A p.Gln259Gln synonymous ALDH5A1 6 83326 7.20063E-5 41663 0 3.38341E-5
6-24515432-A-G p.Asn268Ser missense ALDH5A1 4 83384 4.79708E-5 41692 0 6.51126E-5
6-24515449-C-T p.Arg274* stop_gained ALDH5A1 1 83382 1.1993E-5 41691 0 4.11834E-5
6-24515449-C-G p.Arg274Gly missense ALDH5A1 1 83382 1.1993E-5 41691 0 8.23669E-6
6-24515451-A-G p.Arg274Arg synonymous ALDH5A1 4 83384 4.79708E-5 41692 0 0.00100705
6-24515454-G-C p.Lys275Asn missense ALDH5A1 1 83378 1.19936E-5 41689 0 6.4487E-5
6-24515459-C-T p.Ala277Val missense ALDH5A1 1 83374 1.19941E-5 41687 0 8.23683E-6
6-24515462-A-C p.Lys278Thr missense ALDH5A1 4 83372 4.79777E-5 41686 0 6.58957E-5
6-24515471-G-A p.Gly281Glu missense ALDH5A1 6 83366 7.19718E-5 41683 0 8.74828E-5
6-24515479-A-G p.Ile284Val missense ALDH5A1 2 83372 2.39889E-5 41686 0 1.98826E-5
6-24515499-G-A p.Val290Val synonymous ALDH5A1 44 83362 5.27818E-4 41681 0 5.04032E-4
6-24515516-C-G p.Thr296Ser missense ALDH5A1 1 83356 1.19967E-5 41678 0 NA
6-24515527-A-G p.Thr300Ala missense ALDH5A1 4 83330 4.80019E-5 41665 0 1.63741E-4
6-24515530-A-G p.Thr301Ala missense ALDH5A1 9 83324 1.08012E-4 41662 0 1.15355E-4
6-24515531-C-T p.Thr301Ile missense ALDH5A1 1 83326 1.20011E-5 41663 0 8.23981E-6
6-24515538-G-GATCCT c.909_909+1insATCCT splice_donor ALDH5A1 1 83302 1.20045E-5 41651 0 NA
6-24515539-G-T c.909+1G>T splice_donor ALDH5A1 1 83298 1.20051E-5 41649 0 3.97741E-6
6-24515546-A-T c.909+8A>T splice_region ALDH5A1 1 83266 1.20097E-5 41633 0 8.25369E-6
6-24520624-C-T c.910-5C>T splice_region ALDH5A1 1 83220 1.20163E-5 41610 0 8.24865E-6
6-24520631-C-A p.Ile304Ile splice_region+synonymous ALDH5A1 2 83268 2.40188E-5 41634 0 3.97817E-6
6-24520635-T-C p.Leu306Leu synonymous ALDH5A1 1 83288 1.20065E-5 41644 0 NA
6-24520639-A-C p.His307Pro missense ALDH5A1 1 83296 1.20054E-5 41648 0 8.2394E-6
6-24520643-C-T p.His308His synonymous ALDH5A1 3 83304 3.60127E-5 41652 0 1.64777E-5
6-24520644-G-A p.Ala309Thr missense ALDH5A1 288 83294 0.00345763 41647 9 0.00679068
6-24520655-T-C p.Ser312Ser synonymous ALDH5A1 5 83336 5.99981E-5 41668 0 8.23737E-6
6-24520683-G-A p.Gly322Ser missense ALDH5A1 1 83368 1.1995E-5 41684 0 6.58946E-5
6-24520685-C-T p.Gly322Gly synonymous ALDH5A1 1 83368 1.1995E-5 41684 0 NA
6-24520692-C-G p.Pro325Ala missense ALDH5A1 4 83376 4.79754E-5 41688 0 6.36902E-5
6-24520709-C-G p.Asp330Glu missense ALDH5A1 1 83376 1.19939E-5 41688 0 NA
6-24520717-A-G p.Asn333Ser missense ALDH5A1 2 83392 2.39831E-5 41696 0 2.47105E-5
6-24520718-C-T p.Asn333Asn synonymous ALDH5A1 1 83392 1.19916E-5 41696 0 5.03525E-4
6-24520719-G-A p.Val334Met missense ALDH5A1 304 83390 0.00364552 41695 0 0.00352467
6-24520736-A-T p.Ala339Ala synonymous ALDH5A1 1 83398 1.19907E-5 41699 0 3.18613E-5
6-24520743-A-G p.Met342Val missense ALDH5A1 1 83390 1.19918E-5 41695 0 NA
6-24520780-C-T c.1053+8C>T splice_region ALDH5A1 5 83200 6.00962E-5 41600 0 9.56572E-5
6-24523015-A-AT p.Val361fs frameshift ALDH5A1 1 83348 1.19979E-5 41674 0 3.977E-6
6-24523032-G-C p.Gly364Ala missense ALDH5A1 1 83360 1.19962E-5 41680 0 NA
6-24523060-C-T p.Phe373Phe synonymous ALDH5A1 7 83354 8.39792E-5 41677 0 3.18756E-4
6-24523061-G-A p.Ala374Thr missense ALDH5A1 1 83350 1.19976E-5 41675 0 NA
6-24523062-C-T p.Ala374Val missense ALDH5A1 2 83356 2.39935E-5 41678 0 3.29457E-5
6-24523063-C-T p.Ala374Ala synonymous ALDH5A1 5 83356 5.99837E-5 41678 0 7.95494E-6
6-24523074-A-G p.Lys378Arg missense ALDH5A1 1 83366 1.19953E-5 41683 0 3.18552E-5
6-24523087-C-A p.Arg382Arg synonymous ALDH5A1 1 83362 1.19959E-5 41681 0 3.97722E-6
6-24523087-C-T p.Arg382Arg synonymous ALDH5A1 12 83362 1.4395E-4 41681 0 3.82702E-4
6-24523093-TAATGGA-T p.Asn385_Gly386del conservative_inframe_deletion ALDH5A1 1 83358 1.19964E-5 41679 0 NA
6-24523094-A-G p.Asn385Asp missense ALDH5A1 1 83358 1.19964E-5 41679 0 4.37491E-5
6-24523096-T-C p.Asn385Asn synonymous ALDH5A1 1 83358 1.19964E-5 41679 0 1.64734E-5
6-24523096-T-G p.Asn385Lys missense ALDH5A1 1 83358 1.19964E-5 41679 0 NA
6-24523099-A-ATTC p.Phe387dup disruptive_inframe_insertion ALDH5A1 1 83352 1.19973E-5 41676 0 NA
6-24523102-T-G p.Phe387Leu missense ALDH5A1 1 83352 1.19973E-5 41676 0 3.97716E-6
6-24523108-AG-A p.Gly390fs frameshift ALDH5A1 1 83354 1.1997E-5 41677 0 NA
6-24523114-T-C p.Thr391Thr synonymous ALDH5A1 1 83348 1.19979E-5 41674 0 9.56206E-5
6-24523143-C-T p.Ala401Val missense ALDH5A1 4 83294 4.80227E-5 41647 0 1.27722E-4
6-24523144-G-A p.Ala401Ala synonymous ALDH5A1 1 83290 1.20062E-5 41645 0 3.18857E-5
6-24523144-G-C p.Ala401Ala synonymous ALDH5A1 8 83290 9.60499E-5 41645 1 6.25E-4
6-24523144-G-T p.Ala401Ala synonymous ALDH5A1 1 83290 1.20062E-5 41645 0 3.30126E-5
6-24523145-G-A p.Val402Ile missense ALDH5A1 1 83284 1.20071E-5 41642 0 3.97934E-6
6-24523149-A-G p.Glu403Gly missense ALDH5A1 3 83284 3.60213E-5 41642 0 6.37592E-5
6-24528225-G-A p.Val405Met missense+splice_region ALDH5A1 5 83178 6.0112E-5 41589 0 8.24593E-6
6-24528239-G-A p.Val409Val synonymous ALDH5A1 2 83218 2.40333E-5 41609 0 5.03525E-4
6-24528242-T-G p.Asn410Lys missense ALDH5A1 1 83224 1.20158E-5 41612 0 3.97772E-6
6-24528243-G-C p.Asp411His missense ALDH5A1 1 83230 1.20149E-5 41615 0 3.97776E-6
6-24528248-C-T p.Ala412Ala synonymous ALDH5A1 2 83236 2.40281E-5 41618 0 3.18593E-5
6-24528249-G-A p.Val413Ile missense ALDH5A1 37 83234 4.4453E-4 41617 0 0.00124259
6-24528262-C-G p.Ala417Gly missense ALDH5A1 32 83270 3.84292E-4 41635 0 0.00151057
6-24528267-G-A p.Val419Ile missense ALDH5A1 7 83268 8.40659E-5 41634 0 2.78403E-5
6-24528275-A-G p.Thr421Thr synonymous ALDH5A1 1 83276 1.20083E-5 41638 0 NA
6-24528277-G-A p.Gly422Asp missense ALDH5A1 4 83280 4.80307E-5 41640 0 5.03525E-4
6-24528285-C-T p.Arg425* stop_gained ALDH5A1 1 83264 1.201E-5 41632 0 4.94299E-5
6-24528290-C-G p.His426Gln missense ALDH5A1 1 83268 1.20094E-5 41634 0 NA
6-24528328-G-A p.Cys439Tyr missense ALDH5A1 1 83218 1.20166E-5 41609 0 3.18492E-5
6-24528331-A-G p.Asn440Ser missense ALDH5A1 11 83204 1.32205E-4 41602 0 2.5481E-4
6-24528336-A-T p.Thr442Ser missense ALDH5A1 3 83190 3.6062E-5 41595 0 6.37105E-5
6-24528352-G-C p.Cys447Ser missense ALDH5A1 1 83146 1.2027E-5 41573 0 NA
6-24528359-T-G p.His449Gln missense ALDH5A1 3 83144 3.6082E-5 41572 0 2.54793E-4
6-24528367-C-T p.Thr452Ile missense ALDH5A1 8 83086 9.62858E-5 41543 0 9.8925E-5
6-24528372-G-A p.Gly454Arg missense ALDH5A1 1 83064 1.20389E-5 41532 0 3.97902E-6
6-24528386-A-G p.Pro458Pro synonymous ALDH5A1 1 82986 1.20502E-5 41493 0 3.97928E-6
6-24528387-G-C p.Val459Leu missense ALDH5A1 1 82990 1.20496E-5 41495 0 2.47578E-5
6-24528402-C-T c.1382+8C>T splice_region ALDH5A1 2 82876 2.41324E-5 41438 0 1.98989E-5
6-24532341-T-C c.1383-6T>C splice_region ALDH5A1 16 83334 1.91998E-4 41667 0 1.91046E-4
6-24532350-C-T p.Phe462Phe synonymous ALDH5A1 6 83354 7.19821E-5 41677 0 3.18431E-5
6-24532351-G-A p.Asp463Asn missense ALDH5A1 75 83354 8.99777E-4 41677 0 0.00229285
6-24532356-A-C p.Thr464Thr synonymous ALDH5A1 3 83364 3.59868E-5 41682 0 1.07156E-4
6-24532356-AGAG-A p.Glu467del disruptive_inframe_deletion ALDH5A1 1 83364 1.19956E-5 41682 0 NA
6-24532357-G-C p.Glu465Gln missense ALDH5A1 3 83364 3.59868E-5 41682 0 3.1839E-5
6-24532360-G-C p.Glu466Gln missense ALDH5A1 2 83366 2.39906E-5 41683 0 1.64848E-5
6-24532377-C-T p.Ile471Ile synonymous ALDH5A1 2 83368 2.399E-5 41684 0 1.64851E-5
6-24532380-T-C p.Ala472Ala synonymous ALDH5A1 1 83370 1.19947E-5 41685 0 NA
6-24532383-C-T p.Asn473Asn synonymous ALDH5A1 1 83370 1.19947E-5 41685 0 3.97697E-6
6-24532384-G-A p.Ala474Thr missense ALDH5A1 16 83368 1.9192E-4 41684 0 9.06753E-5
6-24532392-T-C p.Asp476Asp synonymous ALDH5A1 620 83362 0.00743744 41681 3 0.00745033
6-24532407-T-TTATTTTTACTCTCAAGACCCAGCCCAGATCTGGAGAGTGGC c.1441+2_1441+3insTATTTTTACTCTCAAGACCCAGCCCAGATCTGGAGAGTGGC splice_region ALDH5A1 1 83346 1.19982E-5 41673 0 NA
6-24532412-G-A c.1441+7G>A splice_region ALDH5A1 5960 83162 0.0716674 41581 274 0.0808142
6-24533744-A-C p.Tyr484Ser missense ALDH5A1 1 83356 1.19967E-5 41678 0 3.18756E-5
6-24533753-A-C p.Asp487Ala missense ALDH5A1 21 83376 2.51871E-4 41688 0 4.77768E-4
6-24533755-C-G p.Pro488Ala missense ALDH5A1 1 83378 1.19936E-5 41689 0 NA
6-24533760-C-T p.Ala489Ala synonymous ALDH5A1 2 83384 2.39854E-5 41692 0 3.18613E-5
6-24533788-G-C p.Glu499Gln missense ALDH5A1 1 83416 1.19881E-5 41708 0 NA
6-24533797-A-G p.Met502Val missense ALDH5A1 2 83418 2.39756E-5 41709 0 6.25E-4
6-24533805-C-T p.Gly504Gly synonymous ALDH5A1 1 83424 1.1987E-5 41712 0 4.94193E-5
6-24533806-G-A p.Val505Ile missense ALDH5A1 15 83426 1.798E-4 41713 0 2.22383E-4
6-24533807-T-C p.Val505Ala missense ALDH5A1 1 83426 1.19867E-5 41713 0 NA
6-24533811-C-T p.Asn506Asn synonymous ALDH5A1 63 83428 7.55142E-4 41714 1 0.00201792
6-24533812-G-A p.Glu507Lys missense ALDH5A1 4 83428 4.79455E-5 41714 0 7.9526E-5
6-24533837-G-A p.Cys515Tyr missense ALDH5A1 1 83432 1.19858E-5 41716 0 NA
6-24533838-C-T p.Cys515Cys synonymous ALDH5A1 3 83438 3.59548E-5 41719 0 1.64728E-5
6-24533861-C-T p.Ser523Phe missense ALDH5A1 1 83430 1.19861E-5 41715 0 8.23642E-6
6-24533863-G-A p.Gly524Ser missense ALDH5A1 5 83432 5.9929E-5 41716 0 4.14197E-4
6-24533866-C-T p.Leu525Phe missense ALDH5A1 1 83436 1.19852E-5 41718 0 NA
6-24533866-C-G p.Leu525Val missense ALDH5A1 1 83436 1.19852E-5 41718 0 3.18715E-5
6-24533867-T-G p.Leu525Arg missense ALDH5A1 5 83436 5.99262E-5 41718 0 5.03525E-4
6-24533871-G-A p.Gly526Gly synonymous ALDH5A1 1 83432 1.19858E-5 41716 0 3.29457E-5
6-24533872-C-T p.Arg527* stop_gained ALDH5A1 2 83426 2.39733E-5 41713 0 3.9764E-6
6-24533873-G-A p.Arg527Gln missense ALDH5A1 2 83432 2.39716E-5 41716 0 3.18573E-5
6-24533876-A-AG p.Ser530fs frameshift ALDH5A1 1 83430 1.19861E-5 41715 0 NA
6-24533890-G-A p.Gly533Ser missense ALDH5A1 3 83426 3.596E-5 41713 0 3.18674E-5
6-24533905-C-G p.Leu538Val missense ALDH5A1 1 83430 1.19861E-5 41715 0 NA
6-24533920-G-C p.Val543Leu missense ALDH5A1 1 83424 1.1987E-5 41712 0 3.97671E-6
6-24533928-C-T p.Tyr545Tyr synonymous ALDH5A1 1 83410 1.1989E-5 41705 0 9.56206E-5
6-24533929-G-A p.Gly546Arg missense ALDH5A1 3 83410 3.59669E-5 41705 0 9.56023E-5
6-24533938-T-C p.Ter549Glnext*? stop_lost ALDH5A1 16 83390 1.9187E-4 41695 0 1.19374E-4
6-24533939-A-T p.Ter549Leuext*? stop_lost ALDH5A1 2 83388 2.39843E-5 41694 0 3.97943E-6
6-24534034-A-G n.468A>G splice_region ALDH5A1 1 80272 1.24576E-5 40136 0 NA