Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-105418202-C-T c.*2112G>A splice_region ALDH1L2 1 82874 1.20665E-5 41437 0 NA
12-105418202-C-G p.Ter924Tyrext*? stop_lost ALDH1L2 1 82874 1.20665E-5 41437 0 NA
12-105418221-G-A p.Thr918Met missense ALDH1L2 167 82840 0.00201593 41420 1 0.00120678
12-105418232-G-T p.Leu914Leu synonymous ALDH1L2 1 82818 1.20747E-5 41409 0 3.1839E-5
12-105418247-A-C p.Ala909Ala synonymous ALDH1L2 2 82702 2.41832E-5 41351 0 5.85461E-5
12-105420315-A-G c.2716+8T>C splice_region ALDH1L2 8 83152 9.62094E-5 41576 0 6.25E-4
12-105420318-C-T c.2716+5G>A splice_region ALDH1L2 1 83158 1.20253E-5 41579 0 1.65213E-5
12-105420322-C-G c.2716+1G>C splice_donor ALDH1L2 4 83174 4.8092E-5 41587 0 NA
12-105420324-T-C p.Leu905Leu splice_region+synonymous ALDH1L2 1 83184 1.20215E-5 41592 0 3.18451E-5
12-105420330-T-C p.Lys903Lys synonymous ALDH1L2 2 83214 2.40344E-5 41607 0 3.18471E-5
12-105420344-A-C p.Ser899Ala missense ALDH1L2 1 83240 1.20135E-5 41620 0 8.24579E-6
12-105420354-T-G p.Gly895Gly synonymous ALDH1L2 1 83224 1.20158E-5 41612 0 NA
12-105420355-C-T p.Gly895Glu missense ALDH1L2 2 83236 2.40281E-5 41618 0 NA
12-105420356-C-T p.Gly895Arg missense ALDH1L2 2 83228 2.40304E-5 41614 0 6.37186E-5
12-105420357-G-A p.Gly894Gly synonymous ALDH1L2 40 83226 4.80619E-4 41613 0 0.00221735
12-105420359-CA-C p.Phe893fs frameshift ALDH1L2 1 83222 1.20161E-5 41611 0 NA
12-105420361-A-C p.Phe893Cys missense ALDH1L2 1 83228 1.20152E-5 41614 0 3.97861E-6
12-105420369-C-T p.Ala890Ala synonymous ALDH1L2 2 83240 2.40269E-5 41620 0 3.97823E-6
12-105420370-G-T p.Ala890Glu missense ALDH1L2 1 83240 1.20135E-5 41620 0 NA
12-105420370-G-A p.Ala890Val missense ALDH1L2 2 83240 2.40269E-5 41620 0 1.64799E-5
12-105420371-C-T p.Ala890Thr missense ALDH1L2 3 83238 3.60412E-5 41619 0 3.58049E-5
12-105420381-CTTG-C p.Asn885del disruptive_inframe_deletion ALDH1L2 10 83248 1.20123E-4 41624 2 6.37146E-5
12-105420387-G-A p.Tyr884Tyr synonymous ALDH1L2 1 83244 1.20129E-5 41622 0 NA
12-105420387-G-T p.Tyr884* stop_gained ALDH1L2 2 83244 2.40258E-5 41622 0 6.25E-4
12-105420388-T-C p.Tyr884Cys missense ALDH1L2 1 83246 1.20126E-5 41623 0 3.18532E-5
12-105420391-G-A p.Thr883Ile missense ALDH1L2 9 83244 1.08116E-4 41622 0 3.29549E-5
12-105420398-T-C p.Ile881Val missense ALDH1L2 1 83232 1.20146E-5 41616 0 NA
12-105420419-G-A p.Leu874Leu synonymous ALDH1L2 2 83222 2.40321E-5 41611 0 3.18796E-5
12-105420428-T-G p.Ser871Arg missense ALDH1L2 1 83206 1.20184E-5 41603 0 NA
12-105420430-A-G p.Val870Ala missense ALDH1L2 2 83206 2.40367E-5 41603 0 NA
12-105420435-C-T p.Met868Ile missense ALDH1L2 1 83202 1.20189E-5 41601 0 3.18431E-5
12-105420437-T-C p.Met868Val missense ALDH1L2 13 83210 1.56231E-4 41605 0 0.00453172
12-105420443-T-G p.Lys866Gln missense ALDH1L2 2 83208 2.40361E-5 41604 0 8.23805E-6
12-105420444-G-T p.Asn865Lys missense ALDH1L2 1 83204 1.20187E-5 41602 0 NA
12-105420464-C-T p.Val859Ile missense ALDH1L2 1 83156 1.20256E-5 41578 0 3.1841E-5
12-105420473-C-T p.Ala856Thr missense ALDH1L2 2 83134 2.40575E-5 41567 0 3.1841E-5
12-105420474-C-T p.Leu855Leu synonymous ALDH1L2 1 83128 1.20296E-5 41564 0 3.97959E-6
12-105420480-A-G p.Tyr853Tyr synonymous ALDH1L2 1 83110 1.20322E-5 41555 0 1.64777E-5
12-105420482-A-G p.Tyr853His missense ALDH1L2 1 83100 1.20337E-5 41550 0 8.239E-6
12-105420486-T-G p.Thr851Thr synonymous ALDH1L2 1 83084 1.2036E-5 41542 0 3.1837E-5
12-105420499-C-T p.Arg847Gln missense ALDH1L2 5 83010 6.02337E-5 41505 0 3.98197E-6
12-105420500-G-A p.Arg847* stop_gained ALDH1L2 4 83008 4.81881E-5 41504 0 6.37064E-5
12-105420513-A-G p.Asp842Asp synonymous ALDH1L2 2 82920 2.41196E-5 41460 0 8.24266E-6
12-105420515-C-T p.Asp842Asn missense ALDH1L2 6 82890 7.23851E-5 41445 0 6.36862E-5
12-105420527-G-A c.2517-5C>T splice_region ALDH1L2 14 82782 1.69119E-4 41391 0 1.27413E-4
12-105424100-A-G c.2516+2T>C splice_donor ALDH1L2 2 82752 2.41686E-5 41376 0 NA
12-105424109-G-A p.Gln837* stop_gained ALDH1L2 3 82824 3.62214E-5 41412 0 1.07445E-4
12-105424124-C-T p.Val832Ile missense ALDH1L2 1 82938 1.20572E-5 41469 0 6.37308E-5
12-105424126-A-G p.Met831Thr missense ALDH1L2 5 82950 6.02773E-5 41475 0 3.59299E-5
12-105424128-A-C p.Ile830Met missense ALDH1L2 3 82954 3.61646E-5 41477 0 4.95311E-5
12-105424128-A-T p.Ile830Ile synonymous ALDH1L2 2 82954 2.41097E-5 41477 0 9.55536E-5
12-105424132-G-A p.Pro829Leu missense ALDH1L2 2 82966 2.41063E-5 41483 0 NA
12-105424137-A-T p.Phe827Leu missense ALDH1L2 1 82976 1.20517E-5 41488 0 3.18431E-5
12-105424154-C-A p.Ala822Ser missense ALDH1L2 1 82940 1.20569E-5 41470 0 3.98683E-6
12-105424154-C-T p.Ala822Thr missense ALDH1L2 3 82940 3.61707E-5 41470 0 6.37552E-5
12-105424155-G-A p.Leu821Leu synonymous ALDH1L2 2 82934 2.41156E-5 41467 0 3.18492E-5
12-105424170-T-C p.Glu816Glu synonymous ALDH1L2 14 82884 1.68911E-4 41442 0 1.67884E-4
12-105424176-A-G p.Asp814Asp synonymous ALDH1L2 6 82784 7.24778E-5 41392 0 3.18471E-5
12-105424179-T-C p.Thr813Thr synonymous ALDH1L2 2 82746 2.41704E-5 41373 0 NA
12-105424188-G-A p.Thr810Thr synonymous ALDH1L2 3 82588 3.63249E-5 41294 0 1.65928E-5
12-105424192-G-A p.Pro809Leu missense ALDH1L2 1 82524 1.21177E-5 41262 0 3.19081E-5
12-105425541-T-C c.2410+6A>G splice_region ALDH1L2 1 83300 1.20048E-5 41650 0 NA
12-105425551-C-T p.Arg802Arg synonymous ALDH1L2 1 83334 1.19999E-5 41667 0 8.25409E-6
12-105425551-C-A p.Arg802Ser missense ALDH1L2 1 83334 1.19999E-5 41667 0 NA
12-105425552-C-T p.Arg802Lys missense ALDH1L2 1 83338 1.19993E-5 41669 0 NA
12-105425561-TGTCTTCCCCC-T p.Gly796fs frameshift ALDH1L2 3 83352 3.59919E-5 41676 0 NA
12-105425569-C-T p.Gly796Gly synonymous ALDH1L2 3 83354 3.59911E-5 41677 0 6.37024E-5
12-105425570-C-T p.Gly796Glu missense ALDH1L2 92 83362 0.00110362 41681 0 0.00264432
12-105425571-C-T p.Gly796Arg missense ALDH1L2 1 83368 1.1995E-5 41684 0 1.1933E-5
12-105425572-G-A p.Tyr795Tyr synonymous ALDH1L2 1 83366 1.19953E-5 41683 0 9.56023E-5
12-105425576-A-G p.Val794Ala missense ALDH1L2 1 83368 1.1995E-5 41684 0 3.97712E-6
12-105425577-C-T p.Val794Met missense ALDH1L2 1 83366 1.19953E-5 41683 0 3.18451E-5
12-105425587-C-A p.Gly790Gly synonymous ALDH1L2 2 83378 2.39871E-5 41689 0 3.18654E-5
12-105425589-C-T p.Gly790Arg missense ALDH1L2 1 83380 1.19933E-5 41690 0 NA
12-105425594-T-A p.Lys788Ile missense ALDH1L2 19 83378 2.27878E-4 41689 1 0.00100705
12-105425613-A-G p.Tyr782His missense ALDH1L2 40 83392 4.79662E-4 41696 0 0.0020141
12-105425623-C-T p.Lys778Lys synonymous ALDH1L2 1 83386 1.19924E-5 41693 0 NA
12-105425632-A-G p.His775His synonymous ALDH1L2 4 83392 4.79662E-5 41696 0 6.3743E-5
12-105425654-C-T p.Gly768Glu missense ALDH1L2 1 83370 1.19947E-5 41685 0 3.18715E-5
12-105425657-T-C p.His767Arg missense ALDH1L2 2 83370 2.39894E-5 41685 0 1.0708E-4
12-105425660-T-A p.Asp766Val missense ALDH1L2 19 83368 2.27905E-4 41684 0 3.18492E-4
12-105425670-T-C c.*1629-2A>G splice_acceptor ALDH1L2 1 83354 1.1997E-5 41677 0 8.23818E-6
12-105425671-G-T p.Asp762Glu missense ALDH1L2 1 83352 1.19973E-5 41676 0 NA
12-105425687-A-G p.Ile757Thr missense ALDH1L2 3 83312 3.60092E-5 41656 0 6.37592E-5
12-105425694-T-G p.Met755Leu missense ALDH1L2 2 83268 2.40188E-5 41634 0 3.97943E-6
12-105425700-T-C p.Lys753Glu missense ALDH1L2 3 83248 3.60369E-5 41624 0 8.26378E-6
12-105425702-A-G p.Ile752Thr missense ALDH1L2 1 83226 1.20155E-5 41613 0 NA
12-105428075-C-G c.2244+3G>C splice_region ALDH1L2 1 82734 1.20869E-5 41367 0 3.99039E-6
12-105428075-C-T c.2244+3G>A splice_region ALDH1L2 1 82734 1.20869E-5 41367 0 3.1841E-5
12-105428079-A-G p.Val748Ala missense+splice_region ALDH1L2 8 82776 9.66464E-5 41388 0 1.91144E-4
12-105428080-C-T p.Val748Met missense+splice_region ALDH1L2 1 82784 1.20796E-5 41392 0 NA
12-105428095-C-T p.Glu743Lys missense ALDH1L2 2 82980 2.41022E-5 41490 0 3.18451E-5
12-105428098-C-T p.Asp742Asn missense ALDH1L2 1 83000 1.20482E-5 41500 0 3.18471E-5
12-105428099-G-A p.His741His synonymous ALDH1L2 1 83006 1.20473E-5 41503 0 4.98571E-5
12-105428101-G-T p.His741Asn missense ALDH1L2 1 83028 1.20441E-5 41514 0 3.18492E-5
12-105428102-G-A p.Ile740Ile synonymous ALDH1L2 2 83042 2.40842E-5 41521 0 3.32016E-5
12-105428106-G-A p.Ser739Phe missense ALDH1L2 6 83060 7.22369E-5 41530 0 6.37064E-5
12-105428115-A-T p.Val736Glu missense ALDH1L2 2 83080 2.40732E-5 41540 0 3.18471E-5
12-105428116-C-T p.Val736Met missense ALDH1L2 2 83066 2.40772E-5 41533 0 1.1555E-4
12-105428124-C-T p.Arg733Gln missense ALDH1L2 9 83058 1.08358E-4 41529 0 1.91107E-4
12-105428125-G-A p.Arg733Trp missense ALDH1L2 7 83064 8.42724E-5 41532 0 9.104E-5
12-105428148-C-G p.Gly725Ala missense ALDH1L2 1 83012 1.20465E-5 41506 0 1.65895E-5
12-105428152-T-C p.Lys724Glu missense ALDH1L2 1 82972 1.20523E-5 41486 0 8.30385E-6
12-105428154-T-G p.Asn723Thr missense ALDH1L2 23 82944 2.77296E-4 41472 0 5.03525E-4
12-105428172-A-G p.Met717Thr missense ALDH1L2 1 82728 1.20878E-5 41364 0 8.42943E-6
12-105428174-G-T p.Gly716Gly splice_region+synonymous ALDH1L2 1 82686 1.20939E-5 41343 0 NA
12-105428181-A-C c.2146-5T>G splice_region ALDH1L2 3 82578 3.63293E-5 41289 0 6.36943E-5
12-105428182-G-GT c.2146-7_2146-6insA splice_region ALDH1L2 1 82530 1.21168E-5 41265 0 NA
12-105431876-C-T c.2145+5G>A splice_region ALDH1L2 1 82672 1.2096E-5 41336 0 1.99102E-5
12-105431901-G-A p.Leu709Phe missense ALDH1L2 6 82974 7.23118E-5 41487 0 2.48497E-5
12-105431906-C-T p.Cys707Tyr missense ALDH1L2 1 83010 1.20467E-5 41505 0 NA
12-105431907-A-G p.Cys707Arg missense ALDH1L2 3 83016 3.61376E-5 41508 0 3.18817E-5
12-105431919-T-C p.Ile703Val missense ALDH1L2 1 83078 1.20369E-5 41539 0 3.97766E-6
12-105431921-A-G p.Ile702Thr missense ALDH1L2 1 83088 1.20354E-5 41544 0 9.09392E-5
12-105431936-C-A p.Gly697Val missense ALDH1L2 1 83114 1.20317E-5 41557 0 3.18756E-5
12-105431949-G-A p.Leu693Phe missense ALDH1L2 2 83060 2.4079E-5 41530 0 6.37796E-5
12-105431963-A-G p.Leu688Ser missense ALDH1L2 1 82956 1.20546E-5 41478 0 NA
12-105431966-T-C p.Asn687Ser missense ALDH1L2 1 82966 1.20531E-5 41483 0 NA
12-105433498-T-G p.Met680Leu missense ALDH1L2 1 83236 1.2014E-5 41618 0 1.64731E-5
12-105433499-G-A p.Ile679Ile synonymous ALDH1L2 1 83242 1.20132E-5 41621 0 3.18512E-5
12-105433513-T-C p.Ile675Val missense ALDH1L2 5 83258 6.00543E-5 41629 0 6.36983E-5
12-105433523-T-A p.Gly671Gly synonymous ALDH1L2 28576 82930 0.34458 41465 5148 0.443125
12-105433523-T-G p.Gly671Gly synonymous ALDH1L2 1 83274 1.20085E-5 41637 0 3.18443E-5
12-105433524-C-A p.Gly671Val missense ALDH1L2 1 83284 1.20071E-5 41642 0 3.977E-6
12-105433542-C-T p.Arg665His missense ALDH1L2 6 83302 7.20271E-5 41651 0 6.37267E-5
12-105433547-G-A p.Asp663Asp synonymous ALDH1L2 5 83314 6.00139E-5 41657 0 6.37186E-5
12-105433552-G-T p.Pro662Thr missense ALDH1L2 1 83304 1.20042E-5 41652 0 NA
12-105433554-T-G p.His661Pro missense ALDH1L2 3 83306 3.60118E-5 41653 0 1.19303E-5
12-105433558-C-A p.Glu660* stop_gained ALDH1L2 1 83304 1.20042E-5 41652 0 3.9769E-6
12-105433580-G-A p.Gly652Gly synonymous ALDH1L2 8 83240 9.61076E-5 41620 0 1.03408E-4
12-105433584-C-T p.Gly651Asp missense+splice_region ALDH1L2 1 83212 1.20175E-5 41606 0 8.23723E-6
12-105433592-A-G c.1952-8T>C splice_region ALDH1L2 1 83160 1.2025E-5 41580 0 NA
12-105434381-TTACC-T p.Gly651fs frameshift ALDH1L2 1 83292 1.2006E-5 41646 0 NA
12-105434388-A-ATGTTG p.Ser650fs frameshift ALDH1L2 1 83298 1.20051E-5 41649 0 NA
12-105434389-GCC-G p.Gly649fs frameshift ALDH1L2 1 83304 1.20042E-5 41652 0 NA
12-105434389-G-A p.Gly649Gly synonymous ALDH1L2 1 83304 1.20042E-5 41652 0 NA
12-105434398-G-A p.Ile646Ile synonymous ALDH1L2 2 83314 2.40056E-5 41657 0 NA
12-105434409-C-A p.Val643Phe missense ALDH1L2 6 83316 7.2015E-5 41658 0 7.15734E-5
12-105434444-G-C p.Ala631Gly missense ALDH1L2 1 83296 1.20054E-5 41648 0 6.36862E-5
12-105434454-A-T p.Leu628Met missense ALDH1L2 2 83274 2.40171E-5 41637 0 3.97665E-6
12-105434467-C-T p.Thr623Thr synonymous ALDH1L2 27881 82270 0.338896 41135 4889 0.443125
12-105434468-G-A p.Thr623Met missense ALDH1L2 5 83196 6.0099E-5 41598 0 3.18451E-5
12-105434468-G-GT p.Thr623fs frameshift ALDH1L2 1 83196 1.20198E-5 41598 0 NA
12-105434470-G-C p.Val622Val splice_region+synonymous ALDH1L2 2 83188 2.40419E-5 41594 0 3.18451E-5
12-105440482-C-T c.1863+6G>A splice_region ALDH1L2 2 83068 2.40767E-5 41534 0 NA
12-105440490-G-T p.Gln621Lys missense+splice_region ALDH1L2 1 83092 1.20349E-5 41546 0 NA
12-105440497-C-T p.Lys618Lys synonymous ALDH1L2 1 83122 1.20305E-5 41561 0 3.98187E-6
12-105440498-T-C p.Lys618Arg missense ALDH1L2 1 83116 1.20314E-5 41558 0 3.18329E-5
12-105440505-C-G p.Val616Leu missense ALDH1L2 1 83116 1.20314E-5 41558 0 3.32425E-5
12-105440509-G-A p.Thr614Thr synonymous ALDH1L2 19 83146 2.28514E-4 41573 0 2.34878E-4
12-105440520-CTGCCAAACACGCAGCACTCTTCCA-C p.Trp603_Ala610del conservative_inframe_deletion ALDH1L2 1 83174 1.2023E-5 41587 0 NA
12-105440523-C-T p.Ala610Thr missense ALDH1L2 1 83180 1.20221E-5 41590 0 NA
12-105440529-A-G p.Cys608Arg missense ALDH1L2 1 83202 1.20189E-5 41601 0 NA
12-105440530-C-T p.Ala607Ala synonymous ALDH1L2 1 83196 1.20198E-5 41598 0 8.253E-6
12-105440531-G-A p.Ala607Val missense ALDH1L2 3 83200 3.60577E-5 41600 0 3.18492E-5
12-105440534-G-C p.Ala606Gly missense ALDH1L2 1 83200 1.20192E-5 41600 0 NA
12-105440542-C-T p.Trp603* stop_gained ALDH1L2 73 83198 8.77425E-4 41599 0 0.001875
12-105440548-C-A p.Leu601Leu synonymous ALDH1L2 1 83214 1.20172E-5 41607 0 NA
12-105440551-C-T p.Met600Ile missense ALDH1L2 2 83228 2.40304E-5 41614 0 NA
12-105440560-C-T p.Pro597Pro synonymous ALDH1L2 4 83228 4.80607E-5 41614 0 9.55536E-5
12-105440573-G-A p.Pro593Leu missense ALDH1L2 1 83264 1.201E-5 41632 0 3.18471E-5
12-105440574-G-C p.Pro593Ala missense ALDH1L2 1 83268 1.20094E-5 41634 0 NA
12-105440580-T-C p.Ile591Val missense ALDH1L2 2 83284 2.40142E-5 41642 0 8.23886E-6
12-105440584-G-T p.Ala589Ala synonymous ALDH1L2 1 83288 1.20065E-5 41644 0 NA
12-105440595-T-C c.1758-2A>G splice_acceptor ALDH1L2 1 83300 1.20048E-5 41650 0 NA
12-105440597-C-T c.1758-4G>A splice_region ALDH1L2 4 83308 4.80146E-5 41654 0 2.34684E-4
12-105440670-A-T c.1757+7T>A splice_region ALDH1L2 10 83372 1.19944E-4 41686 0 9.55414E-5
12-105440677-CCGAGTGGCTCTTTCTTGGT-C p.Thr580fs frameshift ALDH1L2 1 83370 1.19947E-5 41685 0 8.23655E-6
12-105440678-C-T p.Gly586Ser missense+splice_region ALDH1L2 6 83374 7.19649E-5 41687 0 3.97649E-6
12-105440681-G-A p.Leu585Phe missense ALDH1L2 9 83376 1.07945E-4 41688 0 5.03525E-4
12-105440682-T-C p.Pro584Pro synonymous ALDH1L2 1 83372 1.19944E-5 41686 0 8.23655E-6
12-105440684-G-A p.Pro584Ser missense ALDH1L2 3 83382 3.5979E-5 41691 0 8.23669E-6
12-105440699-A-T p.Phe579Ile missense ALDH1L2 1 83374 1.19941E-5 41687 0 NA
12-105440705-G-C p.Leu577Val missense ALDH1L2 63 83376 7.55613E-4 41688 1 0.00186092
12-105440711-G-A p.Arg575Cys missense ALDH1L2 1 83380 1.19933E-5 41690 0 8.23669E-6
12-105440713-T-C p.Asn574Ser missense ALDH1L2 1 83372 1.19944E-5 41686 0 3.18431E-5
12-105440719-C-T p.Arg572His missense ALDH1L2 97 83362 0.0011636 41681 2 0.00334807
12-105440720-G-A p.Arg572Cys missense ALDH1L2 1 83364 1.19956E-5 41682 0 1.64739E-5
12-105440720-G-T p.Arg572Ser missense ALDH1L2 1 83364 1.19956E-5 41682 0 NA
12-105440740-G-T p.Thr565Asn missense ALDH1L2 1 83344 1.19985E-5 41672 0 NA
12-105443678-GT-G c.1686+7delA splice_region ALDH1L2 1 82950 1.20555E-5 41475 0 4.05531E-6
12-105443694-T-A p.Lys560* stop_gained ALDH1L2 1 82990 1.20496E-5 41495 0 3.18431E-5
12-105443697-C-T p.Asp559Asn missense ALDH1L2 5 82944 6.02816E-5 41472 0 6.04873E-5
12-105443698-G-A p.Cys558Cys synonymous ALDH1L2 6 82934 7.23467E-5 41467 0 0.00100705
12-105443719-G-A p.Phe551Phe synonymous ALDH1L2 1 82958 1.20543E-5 41479 0 NA
12-105443720-A-G p.Phe551Ser missense ALDH1L2 1 82952 1.20552E-5 41476 0 NA
12-105443722-T-C p.Thr550Thr synonymous ALDH1L2 1 82948 1.20557E-5 41474 0 NA
12-105443734-C-T p.Met546Ile missense ALDH1L2 1 82972 1.20523E-5 41486 0 2.47692E-5
12-105443735-A-G p.Met546Thr missense ALDH1L2 1 82974 1.2052E-5 41487 0 NA
12-105443738-C-A p.Gly545Val missense ALDH1L2 1 82984 1.20505E-5 41492 0 NA
12-105443740-A-C p.Ile544Met missense ALDH1L2 1 82988 1.20499E-5 41494 0 NA
12-105443766-A-G p.Tyr536His missense ALDH1L2 1 83074 1.20375E-5 41537 0 3.99779E-6
12-105443768-A-G p.Val535Ala missense ALDH1L2 1 83072 1.20378E-5 41536 0 1.65325E-5
12-105443772-C-T p.Ala534Thr missense ALDH1L2 1 82992 1.20494E-5 41496 0 8.02613E-6
12-105443782-A-G p.Leu530Leu synonymous ALDH1L2 1 82958 1.20543E-5 41479 0 NA
12-105443785-G-T p.Ala529Ala synonymous ALDH1L2 1 82968 1.20528E-5 41484 0 NA
12-105443792-A-G p.Ile527Thr missense ALDH1L2 14 82904 1.6887E-4 41452 1 5.03525E-4
12-105443808-C-G p.Glu522Gln missense ALDH1L2 1 82852 1.20697E-5 41426 0 NA
12-105445870-A-C p.Tyr511* stop_gained ALDH1L2 1 82708 1.20907E-5 41354 0 8.37072E-6
12-105445873-C-T p.Met510Ile missense ALDH1L2 1 82786 1.20793E-5 41393 0 1.66312E-5
12-105445878-A-G p.Leu509Leu synonymous ALDH1L2 18 82844 2.17276E-4 41422 0 2.55037E-4
12-105445883-C-T p.Gly507Glu missense ALDH1L2 1 82952 1.20552E-5 41476 0 NA
12-105445886-C-G p.Arg506Thr missense ALDH1L2 1 82974 1.2052E-5 41487 0 4.05337E-6
12-105445912-T-C p.Glu497Glu synonymous ALDH1L2 1 83120 1.20308E-5 41560 0 2.4726E-5
12-105445917-C-T p.Gly496Ser missense ALDH1L2 2 83122 2.4061E-5 41561 0 1.40102E-4
12-105445918-G-A p.Asn495Asn synonymous ALDH1L2 16 83124 1.92484E-4 41562 0 5.03525E-4
12-105445936-T-C p.Ala489Ala synonymous ALDH1L2 3 83140 3.60837E-5 41570 0 NA
12-105445959-C-T p.Val482Ile missense ALDH1L2 4 83056 4.81603E-5 41528 0 1.60348E-5
12-105445963-C-T p.Ala480Ala synonymous ALDH1L2 3 83018 3.61367E-5 41509 0 2.40985E-5
12-105445964-G-A p.Ala480Val missense ALDH1L2 1 83002 1.20479E-5 41501 0 6.25E-4
12-105445974-C-T p.Ala477Thr missense ALDH1L2 19 82926 2.2912E-4 41463 0 2.03041E-4
12-105445975-G-A p.Tyr476Tyr synonymous ALDH1L2 8 82924 9.64739E-5 41462 0 1.0727E-4
12-105445978-G-T p.Ser475Ser synonymous ALDH1L2 2 82932 2.41161E-5 41466 0 NA
12-105445981-T-C p.Val474Val synonymous ALDH1L2 44 82898 5.30773E-4 41449 0 0.001875
12-105445989-A-G p.Cys472Arg missense ALDH1L2 1 82758 1.20834E-5 41379 0 NA
12-105445994-G-T p.Thr470Lys missense+splice_region ALDH1L2 1 82654 1.20986E-5 41327 0 3.18918E-5
12-105446590-A-G p.Ser469Ser splice_region+synonymous ALDH1L2 1 83206 1.20184E-5 41603 0 3.98149E-6
12-105446592-A-T p.Ser469Thr missense+splice_region ALDH1L2 1 83214 1.20172E-5 41607 0 NA
12-105446613-T-A p.Thr462Ser missense ALDH1L2 8 83260 9.60846E-5 41630 0 1.35312E-4
12-105446616-C-T p.Asp461Asn missense ALDH1L2 1 83264 1.201E-5 41632 0 1.64935E-5
12-105446617-G-T p.Tyr460* stop_gained ALDH1L2 1 83268 1.20094E-5 41634 0 NA
12-105446617-G-A p.Tyr460Tyr synonymous ALDH1L2 4 83268 4.80377E-5 41634 0 3.58132E-5
12-105446632-G-A p.Asp455Asp synonymous ALDH1L2 4 83280 4.80307E-5 41640 0 3.58109E-5
12-105446654-T-C p.Asn448Ser missense ALDH1L2 3 83286 3.60205E-5 41643 0 NA
12-105446657-A-G p.Ile447Thr missense ALDH1L2 6 83276 7.20496E-5 41638 0 1.59165E-5
12-105446668-G-T p.Tyr443* stop_gained ALDH1L2 3 83276 3.60248E-5 41638 0 NA
12-105446669-T-TA p.Tyr443fs frameshift ALDH1L2 1 83272 1.20088E-5 41636 0 8.25287E-6
12-105446675-A-G p.Met441Thr missense ALDH1L2 1 83264 1.201E-5 41632 0 5.03525E-4
12-105446682-C-A p.Val439Leu missense ALDH1L2 2 83248 2.40246E-5 41624 0 1.65125E-5
12-105446682-C-T p.Val439Ile missense ALDH1L2 1 83250 1.2012E-5 41625 0 8.25627E-6
12-105446700-C-T p.Glu433Lys missense ALDH1L2 1 83220 1.20163E-5 41610 0 1.19471E-5
12-105451843-A-G c.1287+8T>C splice_region ALDH1L2 1 83066 1.20386E-5 41533 0 3.18431E-5
12-105451849-A-C c.1287+2T>G splice_donor ALDH1L2 1 83164 1.20244E-5 41582 0 NA
12-105451853-A-C p.Tyr429Asp missense+splice_region ALDH1L2 1 83158 1.20253E-5 41579 0 NA
12-105451858-A-G p.Val427Ala missense ALDH1L2 1 83220 1.20163E-5 41610 0 NA
12-105451866-C-T p.Glu424Glu synonymous ALDH1L2 1 83252 1.20117E-5 41626 0 1.2E-5
12-105451872-C-G p.Glu422Asp missense ALDH1L2 1 83264 1.201E-5 41632 0 8.25096E-6
12-105451873-T-G p.Glu422Ala missense ALDH1L2 1 83274 1.20085E-5 41637 0 NA
12-105451884-T-G p.Gly418Gly synonymous ALDH1L2 1 83282 1.20074E-5 41641 0 NA
12-105451895-T-G p.Lys415Gln missense ALDH1L2 1 83298 1.20051E-5 41649 0 8.23995E-6
12-105451901-C-T p.Val413Met missense ALDH1L2 7 83316 8.40175E-5 41658 0 4.38698E-5
12-105451902-G-A p.Val412Val synonymous ALDH1L2 2 83314 2.40056E-5 41657 0 1.31837E-4
12-105451905-C-G p.Lys411Asn missense ALDH1L2 1 83320 1.20019E-5 41660 0 3.1841E-5
12-105451918-C-T p.Gly407Asp missense ALDH1L2 2 83300 2.40096E-5 41650 0 1.27356E-4
12-105451930-G-A p.Thr403Ile missense ALDH1L2 1 83308 1.20036E-5 41654 0 NA
12-105451943-C-T p.Val399Ile missense ALDH1L2 1 83272 1.20088E-5 41636 0 NA
12-105451944-A-G p.Asp398Asp synonymous ALDH1L2 2 83258 2.40217E-5 41629 0 3.1839E-5
12-105451944-A-T p.Asp398Glu missense ALDH1L2 1 83258 1.20109E-5 41629 0 3.1839E-5
12-105451969-C-G p.Gly390Ala missense ALDH1L2 1 83104 1.20331E-5 41552 0 NA
12-105451974-T-C p.Lys388Lys synonymous ALDH1L2 1 83094 1.20346E-5 41547 0 NA
12-105451994-C-T p.Val382Ile missense ALDH1L2 33 82996 3.9761E-4 41498 0 0.001875
12-105451995-C-T p.Leu381Leu synonymous ALDH1L2 1 82976 1.20517E-5 41488 0 NA
12-105454759-C-T p.Arg380Lys missense+splice_region ALDH1L2 2 82910 2.41225E-5 41455 0 NA
12-105454772-T-C p.Met376Val missense ALDH1L2 1 82992 1.20494E-5 41496 0 3.29609E-5
12-105454798-T-A p.Asp367Val missense ALDH1L2 22 82950 2.6522E-4 41475 0 6.25E-4
12-105454800-T-C p.Thr366Thr synonymous ALDH1L2 1 82964 1.20534E-5 41482 0 8.24429E-6
12-105454802-T-G p.Thr366Pro missense ALDH1L2 1 82980 1.20511E-5 41490 0 3.977E-6
12-105454810-T-C p.Glu363Gly missense ALDH1L2 1 82888 1.20645E-5 41444 0 NA
12-105454813-A-G p.Ile362Thr missense ALDH1L2 3 82884 3.61952E-5 41442 0 3.18735E-5
12-105454817-TG-T p.Ile361fs frameshift ALDH1L2 1 82858 1.20688E-5 41429 0 NA
12-105454821-G-A p.Val359Val synonymous ALDH1L2 3 82804 3.62301E-5 41402 0 7.4255E-5
12-105454823-C-T p.Val359Ile missense ALDH1L2 2 82784 2.41593E-5 41392 0 1.59085E-5
12-105454837-C-G p.Gly354Ala missense ALDH1L2 1 82656 1.20983E-5 41328 0 8.25709E-6
12-105454840-GC-G p.Ala353fs frameshift ALDH1L2 1 82624 1.2103E-5 41312 0 NA
12-105454858-A-G c.1048-8T>C splice_region ALDH1L2 2 82218 2.43256E-5 41109 0 NA
12-105455398-T-C c.1047+7A>G splice_region ALDH1L2 1 82714 1.20899E-5 41357 0 NA
12-105455399-G-A c.1047+6C>T splice_region ALDH1L2 1 82716 1.20896E-5 41358 0 3.97969E-6
12-105455406-T-G p.Lys349Thr missense+splice_region ALDH1L2 1 82874 1.20665E-5 41437 0 3.97801E-6
12-105455408-G-A p.Ile348Ile synonymous ALDH1L2 1 82894 1.20636E-5 41447 0 1.27372E-4
12-105455418-G-C p.Ala345Gly missense ALDH1L2 2 82996 2.40975E-5 41498 0 NA
12-105455429-C-G p.Glu341Asp missense ALDH1L2 1 83110 1.20322E-5 41555 0 NA
12-105455430-T-G p.Glu341Ala missense ALDH1L2 1 83114 1.20317E-5 41557 0 NA
12-105455431-CT-C p.Glu341fs frameshift ALDH1L2 1 83142 1.20276E-5 41571 0 3.18431E-5
12-105455456-C-T p.Thr332Thr synonymous ALDH1L2 7 83274 8.40599E-5 41637 0 2.86551E-4
12-105455466-G-A p.Thr329Met missense ALDH1L2 21 83322 2.52034E-4 41661 0 5.03525E-4
12-105455477-C-G p.Gln325His missense ALDH1L2 3 83350 3.59928E-5 41675 0 NA
12-105455480-A-G p.Ser324Ser synonymous ALDH1L2 1 83356 1.19967E-5 41678 0 NA
12-105455501-A-T p.Asp317Glu missense ALDH1L2 1 83340 1.1999E-5 41670 0 NA
12-105455504-T-C p.Glu316Glu synonymous ALDH1L2 5 83334 5.99995E-5 41667 0 6.37105E-5
12-105455509-A-G p.Phe315Leu missense ALDH1L2 1 83332 1.20002E-5 41666 0 1.5909E-5
12-105455522-C-T p.Val310Val synonymous ALDH1L2 2 83316 2.4005E-5 41658 0 8.24226E-6
12-105455525-C-T p.Thr309Thr synonymous ALDH1L2 1 83300 1.20048E-5 41650 0 2.78507E-5
12-105455527-T-C p.Thr309Ala missense ALDH1L2 2 83306 2.40079E-5 41653 0 3.1835E-5
12-105456659-C-T c.921+7G>A splice_region ALDH1L2 148 83248 0.00177782 41624 2 0.00420355
12-105456663-C-T c.921+3G>A splice_region ALDH1L2 26 83258 3.12282E-4 41629 0 1.59844E-4
12-105456710-C-T p.Val293Ile missense ALDH1L2 14 83288 1.68091E-4 41644 1 0.00100705
12-105456730-C-T p.Gly286Asp missense ALDH1L2 4 83276 4.8033E-5 41638 0 6.36943E-5
12-105456743-G-T p.Leu282Met missense ALDH1L2 1 83268 1.20094E-5 41634 0 1.19336E-5
12-105456746-G-A p.Pro281Ser missense ALDH1L2 9 83258 1.08098E-4 41629 0 1.43207E-4
12-105456753-A-C p.Pro278Pro synonymous ALDH1L2 1 83246 1.20126E-5 41623 0 NA
12-105456754-G-A p.Pro278Leu missense ALDH1L2 8 83250 9.60961E-5 41625 0 2.22973E-4
12-105456758-G-A p.Pro277Ser missense ALDH1L2 1 83236 1.2014E-5 41618 0 NA
12-105456759-CA-C p.Val276fs frameshift ALDH1L2 38 83238 4.56522E-4 41619 0 2.80241E-4
12-105456765-G-A p.Ser274Ser synonymous ALDH1L2 1 83232 1.20146E-5 41616 0 NA
12-105456770-T-G p.Asn273His missense ALDH1L2 2 83232 2.40292E-5 41616 0 9.55779E-5
12-105456781-G-A p.Ser269Leu missense ALDH1L2 2 83210 2.40356E-5 41605 0 8.25423E-6
12-105456783-G-A p.Gly268Gly synonymous ALDH1L2 2 83212 2.4035E-5 41606 0 5.60623E-5
12-105456784-C-T p.Gly268Asp missense ALDH1L2 1 83204 1.20187E-5 41602 0 NA
12-105459044-C-T c.786+1G>A splice_donor ALDH1L2 1 82644 1.21001E-5 41322 0 3.18878E-5
12-105459046-T-C p.Gln262Arg missense+splice_region ALDH1L2 1 82692 1.20931E-5 41346 0 6.25E-4
12-105459055-A-G p.Ile259Thr missense ALDH1L2 2 82884 2.41301E-5 41442 0 NA
12-105459062-T-C p.Thr257Ala missense ALDH1L2 1 82954 1.20549E-5 41477 0 1.65308E-5
12-105459064-C-A p.Trp256Leu missense ALDH1L2 2 82958 2.41086E-5 41479 0 NA
12-105459064-C-T p.Trp256* stop_gained ALDH1L2 1 82958 1.20543E-5 41479 0 NA
12-105459066-A-G p.Ala255Ala synonymous ALDH1L2 5 82988 6.02497E-5 41494 0 3.18634E-5
12-105459073-G-A p.Pro253Leu missense ALDH1L2 1 83040 1.20424E-5 41520 0 NA
12-105459080-T-C p.Lys251Glu missense ALDH1L2 1 83072 1.20378E-5 41536 0 NA
12-105459085-T-G p.His249Pro missense ALDH1L2 2 83092 2.40697E-5 41546 0 NA
12-105459088-C-T p.Gly248Asp missense ALDH1L2 1 83094 1.20346E-5 41547 0 NA
12-105459094-A-T p.Ile246Asn missense ALDH1L2 1 83118 1.20311E-5 41559 0 NA
12-105459103-T-C p.His243Arg missense ALDH1L2 1 83140 1.20279E-5 41570 0 NA
12-105459105-T-C p.Leu242Leu synonymous ALDH1L2 1 83134 1.20288E-5 41567 0 NA
12-105459113-C-T p.Glu240Lys missense ALDH1L2 2 83120 2.40616E-5 41560 0 NA
12-105459114-G-A p.Ala239Ala synonymous ALDH1L2 1 83118 1.20311E-5 41559 0 3.18512E-5
12-105459120-C-T p.Gln237Gln synonymous ALDH1L2 5 83118 6.01554E-5 41559 0 2.46603E-4
12-105459137-A-G c.697-3T>C splice_region ALDH1L2 1 83066 1.20386E-5 41533 0 NA
12-105460364-C-A p.Gln226His missense ALDH1L2 1 83136 1.20285E-5 41568 0 NA
12-105460370-ACCTTCATATGTTGCC-A p.Ala220_Gly224del disruptive_inframe_deletion ALDH1L2 1 83162 1.20247E-5 41581 0 NA
12-105460386-CCTT-C p.Glu218del disruptive_inframe_deletion ALDH1L2 1 83232 1.20146E-5 41616 0 NA
12-105460390-C-G p.Glu218Gln missense ALDH1L2 1 83246 1.20126E-5 41623 0 7.95361E-6
12-105460402-G-A p.Pro214Ser missense ALDH1L2 18 83262 2.16185E-4 41631 0 9.55962E-5
12-105460406-A-G p.Arg212Arg synonymous ALDH1L2 3 83260 3.60317E-5 41630 0 6.36902E-5
12-105460407-C-T p.Arg212His missense ALDH1L2 2 83258 2.40217E-5 41629 0 3.18431E-5
12-105460407-C-G p.Arg212Pro missense ALDH1L2 1 83258 1.20109E-5 41629 0 NA
12-105460408-G-A p.Arg212Cys missense ALDH1L2 10 83248 1.20123E-4 41624 0 9.55779E-5
12-105460420-C-T p.Gly208Arg missense ALDH1L2 1 83224 1.20158E-5 41612 0 3.97719E-6
12-105460425-G-A p.Ala206Val missense ALDH1L2 2 83214 2.40344E-5 41607 0 1.98869E-5
12-105460429-T-A p.Ile205Leu missense ALDH1L2 1 83184 1.20215E-5 41592 0 NA
12-105460429-T-C p.Ile205Val missense ALDH1L2 2 83184 2.40431E-5 41592 0 3.18573E-5
12-105460432-G-A p.Leu204Phe missense ALDH1L2 76 83172 9.13769E-4 41586 0 6.68875E-4
12-105460436-G-C p.Ser201Cys missense ALDH1L2 1 83164 1.20244E-5 41582 0 6.25E-4
12-105460442-T-TTC p.Ala201fs frameshift ALDH1L2 2 83126 2.40599E-5 41563 0 NA
12-105460443-T-G p.Lys199Gln missense+splice_region ALDH1L2 4 83110 4.8129E-5 41555 0 6.37267E-5
12-105460445-T-C c.595-2A>G splice_acceptor ALDH1L2 1 83092 1.20349E-5 41546 0 NA
12-105460448-C-G c.595-1G>C splice_acceptor ALDH1L2 1 83050 1.20409E-5 41525 0 NA
12-105460452-G-A c.595-5C>T splice_region ALDH1L2 1 82984 1.20505E-5 41492 0 3.34135E-5
12-105460452-G-C c.595-5C>G splice_region ALDH1L2 2 82984 2.4101E-5 41492 0 NA
12-105462492-C-A c.594+5G>T splice_region ALDH1L2 1 79518 1.25758E-5 39759 0 NA
12-105462498-A-G p.Met198Thr missense+splice_region ALDH1L2 13 79992 1.62516E-4 39996 0 3.11621E-4
12-105462528-C-T p.Arg188Gln missense ALDH1L2 4 81468 4.9099E-5 40734 0 6.25E-4
12-105462547-C-T p.Val182Met missense ALDH1L2 1 82754 1.2084E-5 41377 0 NA
12-105462555-T-C p.Asn179Ser missense ALDH1L2 1 83016 1.20459E-5 41508 0 6.37105E-5
12-105462557-G-T p.Pro178Pro synonymous ALDH1L2 1 83032 1.20435E-5 41516 0 NA
12-105462559-G-T p.Pro178Thr missense ALDH1L2 1 83046 1.20415E-5 41523 0 NA
12-105462592-G-T p.Pro167Thr missense ALDH1L2 1 83124 1.20302E-5 41562 0 NA
12-105462599-A-G p.Asp164Asp synonymous ALDH1L2 1 83144 1.20273E-5 41572 0 NA
12-105462637-C-T p.Ala152Thr missense ALDH1L2 1 82782 1.20799E-5 41391 0 4.5139E-6
12-105462642-T-C p.Lys150Arg missense ALDH1L2 1 82690 1.20934E-5 41345 0 1.80283E-5
12-105462651-A-G p.Met147Thr missense ALDH1L2 1 82498 1.21215E-5 41249 0 8.39518E-6
12-105462658-G-A p.Leu145Leu synonymous ALDH1L2 2 82006 2.43885E-5 41003 0 NA
12-105462663-C-A c.429-1G>T splice_acceptor ALDH1L2 1 81738 1.22342E-5 40869 0 NA
12-105462664-T-C c.429-2A>G splice_acceptor ALDH1L2 1 81716 1.22375E-5 40858 0 1.70876E-5
12-105462669-AAAG-A c.429-10_429-8delCTT splice_region ALDH1L2 1 81866 1.22151E-5 40933 0 NA
12-105464298-C-T n.486G>A splice_region ALDH1L2 11 70468 1.56099E-4 35234 0 3.75799E-5
12-105464300-T-C n.484A>G splice_region ALDH1L2 1 70978 1.40889E-5 35489 0 2.44795E-5
12-105464347-C-T c.428+1G>A splice_donor ALDH1L2 1 82574 1.21103E-5 41287 0 NA
12-105464356-A-G p.Ala140Ala synonymous ALDH1L2 7 82854 8.4486E-5 41427 0 7.51716E-5
12-105464360-G-C p.Ser139Cys missense ALDH1L2 1 82902 1.20624E-5 41451 0 NA
12-105464364-C-G p.Ala138Pro missense ALDH1L2 1 82922 1.20595E-5 41461 0 NA
12-105464376-TG-T p.Arg134fs frameshift ALDH1L2 1 83088 1.20354E-5 41544 0 7.96426E-6
12-105464379-G-T p.Pro133Thr missense ALDH1L2 1 83102 1.20334E-5 41551 0 NA
12-105464395-A-T p.Tyr127* stop_gained ALDH1L2 32 83208 3.84578E-4 41604 0 0.00100705
12-105464401-G-T p.Ile125Ile synonymous ALDH1L2 12 83240 1.44161E-4 41620 0 3.19081E-5
12-105464407-G-A p.Gly123Gly synonymous ALDH1L2 21 83268 2.52198E-4 41634 0 0.00100705
12-105464410-G-A p.His122His synonymous ALDH1L2 26 83276 3.12215E-4 41638 0 9.54434E-4
12-105464413-C-G p.Lys121Asn missense ALDH1L2 1 83294 1.20057E-5 41647 0 3.18918E-5
12-105464426-A-G p.Ile117Thr missense ALDH1L2 5 83304 6.00211E-5 41652 0 1.97729E-4
12-105464428-T-C p.Ile116Met missense ALDH1L2 1 83298 1.20051E-5 41649 0 NA
12-105464436-T-C p.Met114Val missense ALDH1L2 1 83316 1.20025E-5 41658 0 8.23791E-6
12-105464439-G-C p.Pro113Ala missense ALDH1L2 1 83322 1.20016E-5 41661 0 5.03525E-4
12-105464458-AG-A p.Pro106fs frameshift ALDH1L2 1 83334 1.19999E-5 41667 0 NA
12-105464459-G-C p.Pro106Arg missense ALDH1L2 1 83330 1.20005E-5 41665 0 NA
12-105464477-G-A p.Ala100Val missense ALDH1L2 1 83342 1.19988E-5 41671 0 8.23655E-6
12-105464478-C-A p.Ala100Ser missense ALDH1L2 2 83348 2.39958E-5 41674 0 8.23655E-6
12-105464478-C-T p.Ala100Thr missense ALDH1L2 1 83348 1.19979E-5 41674 0 NA
12-105464480-C-A p.Gly99Val missense ALDH1L2 2 83348 2.39958E-5 41674 0 NA
12-105464484-C-T p.Val98Met missense ALDH1L2 2 83342 2.39975E-5 41671 0 4.37417E-5
12-105464485-G-A p.Ser97Ser synonymous ALDH1L2 2135 83298 0.0256309 41649 36 0.0290612
12-105464489-C-G p.Arg96Thr missense ALDH1L2 1 83346 1.19982E-5 41673 0 3.18634E-5
12-105464517-T-C p.Thr87Ala missense ALDH1L2 24 83358 2.87915E-4 41679 0 0.00100705
12-105464519-T-G p.Lys86Thr missense ALDH1L2 1 83358 1.19964E-5 41679 0 3.9763E-6
12-105464532-T-TC p.Arg82fs frameshift ALDH1L2 2 83338 2.39987E-5 41669 0 NA
12-105464548-G-T p.Phe76Leu missense ALDH1L2 2 83308 2.40073E-5 41654 0 NA
12-105464552-A-G p.Val75Ala missense ALDH1L2 11 83298 1.32056E-4 41649 0 5.03525E-4
12-105464560-C-T p.Gly72Gly synonymous ALDH1L2 16 83272 1.92141E-4 41636 0 3.18613E-5
12-105464576-G-A p.Ala67Val missense ALDH1L2 7 83196 8.41387E-5 41598 0 5.03525E-4
12-105464576-G-T p.Ala67Asp missense ALDH1L2 1 83196 1.20198E-5 41598 0 4.05808E-6
12-105464582-G-A p.Ala65Val missense+splice_region ALDH1L2 1 83170 1.20236E-5 41585 0 NA
12-105464586-A-C c.194-4T>G splice_region ALDH1L2 1 83102 1.20334E-5 41551 0 1.65942E-5
12-105467631-G-A c.193+8C>T splice_region ALDH1L2 1 82988 1.20499E-5 41494 0 1.19482E-5
12-105467674-G-A p.Thr53Ile missense ALDH1L2 1 83354 1.1997E-5 41677 0 6.36943E-5
12-105467675-T-G p.Thr53Pro missense ALDH1L2 1 83352 1.19973E-5 41676 0 7.95374E-6
12-105467677-A-G p.Phe52Ser missense ALDH1L2 2 83358 2.39929E-5 41679 0 9.56023E-5
12-105467679-C-T p.Val51Val synonymous ALDH1L2 1 83362 1.19959E-5 41681 0 7.95361E-6
12-105467684-C-T p.Gly50Arg missense ALDH1L2 1 83380 1.19933E-5 41690 0 7.95311E-6
12-105467688-T-C p.Val48Val synonymous ALDH1L2 1 83382 1.1993E-5 41691 0 3.18512E-5
12-105467693-G-A p.Arg47* stop_gained ALDH1L2 11 83378 1.31929E-4 41689 0 1.27421E-4
12-105467698-C-A p.Gly45Val missense ALDH1L2 26 83370 3.11863E-4 41685 0 9.55475E-5
12-105467707-C-T p.Arg42His missense ALDH1L2 3 83364 3.59868E-5 41682 0 2.38601E-5
12-105467708-G-A p.Arg42Cys missense ALDH1L2 13 83370 1.55931E-4 41685 0 2.86319E-4
12-105467736-G-A p.Leu32Leu synonymous ALDH1L2 1 83336 1.19996E-5 41668 0 7.15814E-5
12-105467745-G-A p.Gly29Gly synonymous ALDH1L2 8 83316 9.602E-5 41658 0 9.14738E-5
12-105467752-AGT-A p.Leu27fs frameshift ALDH1L2 1 83302 1.20045E-5 41651 0 NA
12-105467753-G-A p.Leu27Leu synonymous ALDH1L2 2 83302 2.4009E-5 41651 0 NA
12-105467756-C-A p.Ala26Ser missense ALDH1L2 1 83292 1.2006E-5 41646 0 5.76673E-5
12-105467770-T-C p.Asn21Ser missense ALDH1L2 1 83258 1.20109E-5 41629 0 6.37308E-5
12-105467773-T-G p.Lys20Thr missense ALDH1L2 1 83252 1.20117E-5 41626 0 8.2409E-6
12-105478168-C-T p.Arg16Gln missense+splice_region ALDH1L2 1 55190 1.81192E-5 27595 0 1.06542E-4
12-105478170-G-A p.Gly15Gly synonymous ALDH1L2 1 54810 1.82448E-5 27405 0 NA
12-105478187-G-A p.Arg10Trp missense ALDH1L2 1 51552 1.93979E-5 25776 0 NA
12-105478188-G-A p.Leu9Leu synonymous ALDH1L2 1 51560 1.93949E-5 25780 0 1.105E-5
12-105478203-C-A p.Arg4Arg synonymous ALDH1L2 1 50150 1.99402E-5 25075 0 1.09589E-5
12-105478287-C-A c.-73G>T 5_prime_UTR_premature_start_codon_gain ALDH1L2 5 34760 1.43843E-4 17380 0 NA