Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
15-58245623-G-C c.*1772C>G splice_region ALDH1A2 1 44716 2.23634E-5 22358 0 NA
15-58245630-A-C c.*1765T>G splice_region ALDH1A2 24 44710 5.36793E-4 22355 0 5.09424E-4
15-58245851-C-T c.*170-5G>A splice_region ALDH1A2 4 40780 9.80873E-5 20390 0 1.91083E-4
15-58245852-G-A c.*170-6C>T splice_region ALDH1A2 1 40636 2.46087E-5 20318 0 3.18512E-5
15-58247407-C-T p.Gln515Gln synonymous ALDH1A2 4 83100 4.81348E-5 41550 0 1.19484E-5
15-58247410-G-C p.Pro514Pro synonymous ALDH1A2 1 83086 1.20357E-5 41543 0 3.18552E-5
15-58247411-G-A p.Pro514Leu missense ALDH1A2 1 83084 1.2036E-5 41542 0 3.18593E-5
15-58247428-C-T p.Thr508Thr synonymous ALDH1A2 1 83012 1.20465E-5 41506 0 5.03525E-4
15-58247434-A-T p.Val506Val synonymous ALDH1A2 2 82994 2.40981E-5 41497 0 NA
15-58247436-C-T p.Val506Ile missense ALDH1A2 1 82994 1.20491E-5 41497 0 8.23696E-6
15-58247440-T-A p.Ser504Ser synonymous ALDH1A2 1 82976 1.20517E-5 41488 0 NA
15-58247449-C-T p.Arg501Arg synonymous ALDH1A2 151 82896 0.00182156 41448 0 0.006875
15-58247451-G-A p.Arg501Trp missense ALDH1A2 1 82870 1.20671E-5 41435 0 2.47109E-5
15-58247459-A-G p.Phe498Ser missense ALDH1A2 1 82828 1.20732E-5 41414 0 2.80678E-5
15-58247468-C-T c.1485-1G>A splice_acceptor ALDH1A2 2 82740 2.41721E-5 41370 1 NA
15-58252972-C-A p.Glu494* stop_gained ALDH1A2 1 82806 1.20764E-5 41403 0 NA
15-58252976-C-A p.Gly492Gly synonymous ALDH1A2 1 82784 1.20796E-5 41392 0 8.25082E-6
15-58252979-A-C p.Asn491Lys missense ALDH1A2 2 82768 2.41639E-5 41384 0 NA
15-58252997-T-A p.Gly485Gly synonymous ALDH1A2 1 82620 1.21036E-5 41310 0 NA
15-58253004-A-G p.Phe483Ser missense ALDH1A2 2 82550 2.42277E-5 41275 0 NA
15-58253015-G-A p.Ala479Ala synonymous ALDH1A2 1 82438 1.21303E-5 41219 0 NA
15-58253023-A-G p.Leu477Leu synonymous ALDH1A2 3 82330 3.64387E-5 41165 0 NA
15-58253042-C-T p.Trp470* stop_gained ALDH1A2 1 81996 1.21957E-5 40998 0 NA
15-58253049-G-C c.1410-7C>G splice_region ALDH1A2 2 81866 2.44302E-5 40933 0 4.13531E-5
15-58253330-C-G c.1409+5G>C splice_region ALDH1A2 1 83068 1.20383E-5 41534 0 NA
15-58253333-A-G c.1409+2T>C splice_donor ALDH1A2 1 83082 1.20363E-5 41541 0 NA
15-58253369-T-C p.Thr459Ala missense ALDH1A2 4 83178 4.80896E-5 41589 0 3.18471E-5
15-58253373-G-T p.Ala457Ala synonymous ALDH1A2 1 83176 1.20227E-5 41588 0 3.18634E-5
15-58253381-T-A p.Asn455Tyr missense ALDH1A2 1 83178 1.20224E-5 41589 0 NA
15-58253382-G-A p.Ile454Ile synonymous ALDH1A2 1 83178 1.20224E-5 41589 0 8.24117E-6
15-58253392-G-C p.Thr451Ser missense ALDH1A2 1 83172 1.20233E-5 41586 0 8.24131E-6
15-58253408-C-T p.Val446Ile missense ALDH1A2 1 83190 1.20207E-5 41595 0 1.19375E-5
15-58253409-G-A p.Leu445Leu synonymous ALDH1A2 4 83184 4.80862E-5 41592 0 6.37064E-5
15-58253424-G-C p.Asn440Lys missense ALDH1A2 1 83152 1.20262E-5 41576 0 3.18431E-5
15-58253438-C-T p.Glu436Lys missense ALDH1A2 3 83116 3.60941E-5 41558 0 4.94935E-5
15-58253439-G-A p.Ile435Ile synonymous ALDH1A2 1 83110 1.20322E-5 41555 0 4.94968E-5
15-58253439-G-T p.Ile435Ile synonymous ALDH1A2 2 83110 2.40645E-5 41555 0 NA
15-58253439-G-C p.Ile435Met missense ALDH1A2 1 83110 1.20322E-5 41555 0 NA
15-58253441-T-C p.Ile435Val missense ALDH1A2 1 83108 1.20325E-5 41554 0 5.03525E-4
15-58253449-T-C p.Asp432Gly missense ALDH1A2 1 83056 1.20401E-5 41528 0 8.25409E-6
15-58253454-C-T p.Thr430Thr synonymous ALDH1A2 4 83036 4.81719E-5 41518 0 6.60535E-5
15-58253455-G-A p.Thr430Met missense ALDH1A2 2 83030 2.40877E-5 41515 0 1.65131E-5
15-58253463-T-C p.Arg427Arg synonymous ALDH1A2 1 82988 1.20499E-5 41494 0 NA
15-58253490-G-T p.Ile418Ile splice_region+synonymous ALDH1A2 371 82822 0.00447949 41411 6 0.0206445
15-58254205-G-A c.1251+5C>T splice_region ALDH1A2 1 83358 1.19964E-5 41679 0 6.37024E-5
15-58254226-C-T p.Arg412Gln missense ALDH1A2 9 83376 1.07945E-4 41688 0 4.45441E-4
15-58254231-A-G p.Asp410Asp synonymous ALDH1A2 1 83382 1.1993E-5 41691 0 8.23683E-6
15-58254234-A-G p.Asp409Asp synonymous ALDH1A2 1 83382 1.1993E-5 41691 0 NA
15-58254242-C-T p.Val407Ile missense ALDH1A2 1 83374 1.19941E-5 41687 0 3.18512E-5
15-58254243-G-A p.Asn406Asn synonymous ALDH1A2 3 83372 3.59833E-5 41686 0 3.29484E-5
15-58254244-T-C p.Asn406Ser missense ALDH1A2 2 83374 2.39883E-5 41687 0 3.97709E-5
15-58254261-C-T p.Glu400Glu synonymous ALDH1A2 1 83374 1.19941E-5 41687 0 3.18674E-5
15-58254266-T-A p.Ile399Phe missense ALDH1A2 1 83386 1.19924E-5 41693 0 NA
15-58254277-T-A p.Lys395Met missense ALDH1A2 1 83374 1.19941E-5 41687 0 8.23791E-6
15-58254280-C-T p.Arg394Gln missense ALDH1A2 3 83368 3.5985E-5 41684 0 1.64764E-5
15-58254312-GGC-G p.Ala383fs frameshift ALDH1A2 2 83332 2.40004E-5 41666 0 NA
15-58254314-C-T p.Ala383Thr missense ALDH1A2 1 83322 1.20016E-5 41661 0 8.23845E-6
15-58254315-G-A p.Gly382Gly synonymous ALDH1A2 5 83320 6.00096E-5 41660 0 3.29549E-5
15-58254326-C-T p.Val379Met missense ALDH1A2 1 83308 1.20036E-5 41654 0 NA
15-58254337-A-G p.Ile375Thr missense ALDH1A2 1 83292 1.2006E-5 41646 0 NA
15-58254352-T-C p.Lys370Arg missense ALDH1A2 1 83254 1.20114E-5 41627 0 NA
15-58254354-G-A p.Asn369Asn synonymous ALDH1A2 1 83238 1.20137E-5 41619 0 NA
15-58254368-T-C p.Lys365Glu missense ALDH1A2 1 83166 1.20241E-5 41583 0 NA
15-58256090-C-T p.Gly360Asp missense ALDH1A2 1 82592 1.21077E-5 41296 0 NA
15-58256101-G-A p.Thr356Thr synonymous ALDH1A2 3 82698 3.62766E-5 41349 0 2.47574E-5
15-58256102-G-C p.Thr356Ser missense ALDH1A2 2 82690 2.41867E-5 41345 0 6.25E-4
15-58256102-G-A p.Thr356Ile missense ALDH1A2 1 82690 1.20934E-5 41345 0 NA
15-58256107-G-A p.Asp354Asp synonymous ALDH1A2 2 82690 2.41867E-5 41345 0 0.0020141
15-58256127-C-T p.Val348Ile missense ALDH1A2 37926 82240 0.461162 41120 8940 0.469596
15-58256128-G-A p.Arg347Arg synonymous ALDH1A2 1 82704 1.20913E-5 41352 0 3.98454E-6
15-58256130-G-A p.Arg347Cys missense ALDH1A2 3 82670 3.62889E-5 41335 0 2.47235E-5
15-58256140-C-T p.Arg343Arg synonymous ALDH1A2 1 82640 1.21007E-5 41320 0 8.24307E-6
15-58256141-C-T p.Arg343Gln missense ALDH1A2 6 82632 7.26111E-5 41316 0 0.00100705
15-58256142-G-A p.Arg343Trp missense ALDH1A2 3 82632 3.63055E-5 41316 0 1.64886E-5
15-58256146-C-T p.Val341Val synonymous ALDH1A2 1 82626 1.21027E-5 41313 0 3.98416E-6
15-58256149-G-A p.Ser340Ser synonymous ALDH1A2 12 82622 1.4524E-4 41311 0 1.07185E-4
15-58256168-T-C p.Glu334Gly missense ALDH1A2 1 82478 1.21244E-5 41239 0 NA
15-58256188-G-A p.Phe327Phe synonymous ALDH1A2 2 82344 2.42884E-5 41172 0 8.259E-6
15-58256206-A-G p.Thr321Thr synonymous ALDH1A2 1 82242 1.21592E-5 41121 0 NA
15-58256209-G-A p.Cys320Cys synonymous ALDH1A2 3 82220 3.64875E-5 41110 0 3.30633E-5
15-58256215-C-A p.Gln318His missense ALDH1A2 1 82160 1.21714E-5 41080 0 3.98845E-6
15-58256225-T-C p.Asn315Ser missense ALDH1A2 1 82066 1.21853E-5 41033 0 3.18593E-5
15-58256234-A-C p.Val312Gly missense ALDH1A2 1 81908 1.22088E-5 40954 0 NA
15-58256239-C-G p.Gln310His missense ALDH1A2 2 81866 2.44302E-5 40933 0 3.99323E-6
15-58256261-T-G p.Tyr303Ser missense ALDH1A2 21 81250 2.58462E-4 40625 0 4.98082E-4
15-58256261-T-C p.Tyr303Cys missense ALDH1A2 1 81250 1.23077E-5 40625 0 NA
15-58257933-A-C p.Ala297Ala synonymous ALDH1A2 1 83072 1.20378E-5 41536 0 NA
15-58257966-T-C p.Glu286Glu synonymous ALDH1A2 1 83042 1.20421E-5 41521 0 NA
15-58257969-CAG-C p.Leu285fs frameshift ALDH1A2 1 83040 1.20424E-5 41520 0 NA
15-58257977-C-T p.Val283Ile missense ALDH1A2 1 83016 1.20459E-5 41508 0 NA
15-58257980-T-C p.Arg282Gly missense ALDH1A2 1 82992 1.20494E-5 41496 0 NA
15-58257994-C-T p.Arg277Lys missense ALDH1A2 1 82936 1.20575E-5 41468 0 8.24457E-6
15-58258013-T-C p.Ile271Val missense ALDH1A2 2 82824 2.41476E-5 41412 0 NA
15-58258025-C-T p.Val267Ile missense+splice_region ALDH1A2 1 82762 1.20828E-5 41381 0 8.26993E-6
15-58284896-T-C c.798+7A>G splice_region ALDH1A2 10 82460 1.21271E-4 41230 0 6.25E-4
15-58284901-A-T c.798+2T>A splice_donor ALDH1A2 1 82556 1.2113E-5 41278 0 NA
15-58284940-A-G p.Ile254Thr missense ALDH1A2 1 82958 1.20543E-5 41479 0 8.23859E-6
15-58284941-T-C p.Ile254Val missense ALDH1A2 1 82962 1.20537E-5 41481 0 2.4717E-5
15-58284953-T-C p.Ile250Val missense ALDH1A2 2 82992 2.40987E-5 41496 0 3.29533E-5
15-58284966-C-T p.Thr245Thr synonymous ALDH1A2 35 83036 4.21504E-4 41518 1 0.00189469
15-58284974-C-G p.Gly243Arg missense ALDH1A2 1 83032 1.20435E-5 41516 0 NA
15-58285001-C-T p.Gly234Arg missense ALDH1A2 2 82918 2.41202E-5 41459 0 6.25E-4
15-58285002-G-A p.Pro233Pro synonymous ALDH1A2 5 82936 6.02874E-5 41468 0 1.91071E-4
15-58285020-A-G c.685-4T>C splice_region ALDH1A2 1 82870 1.20671E-5 41435 0 NA
15-58285136-C-T c.684+7G>A splice_region ALDH1A2 1 82790 1.20788E-5 41395 0 NA
15-58285146-C-T p.Lys227Lys synonymous ALDH1A2 1 82846 1.20706E-5 41423 0 3.18492E-5
15-58285155-G-T p.Ala224Ala synonymous ALDH1A2 17 82842 2.0521E-4 41421 1 0.0020141
15-58285189-T-C p.Glu213Gly missense ALDH1A2 1 82890 1.20642E-5 41445 0 1.99072E-5
15-58285237-A-G p.Ile197Thr missense ALDH1A2 1 82838 1.20718E-5 41419 0 NA
15-58285245-G-A p.Ala194Ala synonymous ALDH1A2 1 82830 1.20729E-5 41415 0 NA
15-58285263-G-C p.Phe188Leu missense ALDH1A2 2 82638 2.42019E-5 41319 0 NA
15-58285265-A-T p.Phe188Ile missense ALDH1A2 1 82622 1.21033E-5 41311 0 NA
15-58285279-G-T c.556-8C>A splice_region ALDH1A2 10 82244 1.21589E-4 41122 0 1.27747E-4
15-58287313-C-G p.Arg173Thr missense ALDH1A2 1 83190 1.20207E-5 41595 0 NA
15-58287315-T-C p.Thr172Thr synonymous ALDH1A2 1 83194 1.20201E-5 41597 0 NA
15-58287318-A-G p.Phe171Phe synonymous ALDH1A2 1 83182 1.20218E-5 41591 0 3.97871E-6
15-58302851-A-G p.Pro163Pro synonymous ALDH1A2 1 83252 1.20117E-5 41626 0 3.18593E-5
15-58302858-G-C p.Thr161Ser missense ALDH1A2 14 83242 1.68184E-4 41621 0 6.37186E-5
15-58302859-T-A p.Thr161Ser missense ALDH1A2 1 83252 1.20117E-5 41626 0 NA
15-58302865-C-CTTTTTCTATAGAT p.Gly159fs frameshift ALDH1A2 1 83248 1.20123E-5 41624 0 NA
15-58302887-T-C p.Ala151Ala synonymous ALDH1A2 908 83214 0.0109116 41607 10 0.0186304
15-58302889-C-A p.Ala151Ser missense ALDH1A2 75 83218 9.01247E-4 41609 0 0.00191205
15-58302890-G-A p.Tyr150Tyr synonymous ALDH1A2 37 83222 4.44594E-4 41611 0 0.00125
15-58302896-T-C p.Arg148Arg synonymous ALDH1A2 2 83208 2.40361E-5 41604 0 3.18634E-5
15-58302897-C-T p.Arg148Gln missense ALDH1A2 11 83200 1.32212E-4 41600 0 6.37389E-5
15-58302913-C-T p.Val143Ile missense ALDH1A2 1 83156 1.20256E-5 41578 0 2.78753E-5
15-58302938-T-C p.Gln134Gln synonymous ALDH1A2 1 83122 1.20305E-5 41561 0 7.96388E-6
15-58302940-G-C p.Gln134Glu missense ALDH1A2 2 83128 2.40593E-5 41564 0 8.2526E-6
15-58302944-G-A p.Phe132Phe synonymous ALDH1A2 1 83108 1.20325E-5 41554 0 6.37146E-5
15-58302958-C-T p.Gly128Ser missense ALDH1A2 1 83092 1.20349E-5 41546 0 3.98276E-6
15-58302966-G-A p.Ser125Phe missense ALDH1A2 1 83098 1.2034E-5 41549 0 NA
15-58302968-T-C p.Glu124Glu synonymous ALDH1A2 6 83100 7.22022E-5 41550 0 1.59317E-4
15-58302970-C-G p.Glu124Gln missense ALDH1A2 1 83092 1.20349E-5 41546 0 NA
15-58302980-T-C c.364-4A>G splice_region ALDH1A2 1 83074 1.20375E-5 41537 0 1.65396E-5
15-58306066-G-T p.Ala118Glu missense ALDH1A2 1 83278 1.2008E-5 41639 0 4.94226E-5
15-58306075-C-T p.Arg115Gln missense ALDH1A2 3 83288 3.60196E-5 41644 0 8.23683E-6
15-58306076-G-A p.Arg115Trp missense ALDH1A2 1 83286 1.20068E-5 41643 0 7.95577E-6
15-58306080-C-T p.Val113Val synonymous ALDH1A2 1 83292 1.2006E-5 41646 0 6.3674E-5
15-58306083-C-G p.Leu112Phe missense ALDH1A2 1 83284 1.20071E-5 41642 0 8.23655E-6
15-58306085-A-G p.Leu112Leu synonymous ALDH1A2 2 83282 2.40148E-5 41641 0 3.1837E-5
15-58306107-A-G p.Arg104Arg synonymous ALDH1A2 15 83226 1.80232E-4 41613 0 0.00352467
15-58306108-C-T p.Arg104His missense ALDH1A2 2 83222 2.40321E-5 41611 0 5.03525E-4
15-58306109-G-A p.Arg104Cys missense ALDH1A2 1 83212 1.20175E-5 41606 0 7.9583E-6
15-58306134-T-C p.Arg95Arg synonymous ALDH1A2 1 83142 1.20276E-5 41571 0 NA
15-58306141-A-G p.Val93Ala missense ALDH1A2 1 83068 1.20383E-5 41534 0 NA
15-58306142-C-T p.Val93Met missense ALDH1A2 1 83072 1.20378E-5 41536 0 NA
15-58306161-C-T p.Leu86Leu synonymous ALDH1A2 20 82950 2.41109E-4 41475 0 1.91095E-4
15-58306165-C-T p.Arg85His missense ALDH1A2 1 82910 1.20613E-5 41455 0 9.56145E-5
15-58306166-G-A p.Arg85Cys missense ALDH1A2 1 82906 1.20619E-5 41453 0 3.98359E-6
15-58306167-G-A p.Ala84Ala synonymous ALDH1A2 1 82896 1.20633E-5 41448 0 NA
15-58306173-C-T p.Gln82Gln synonymous ALDH1A2 1 82866 1.20677E-5 41433 0 3.98362E-6
15-58306173-C-G p.Gln82His missense ALDH1A2 1 82866 1.20677E-5 41433 0 NA
15-58306183-T-G p.Lys79Thr missense ALDH1A2 1 82810 1.20758E-5 41405 0 1.19532E-5
15-58306188-T-G p.Ile77Ile synonymous ALDH1A2 3 82784 3.62389E-5 41392 0 NA
15-58306192-T-C p.Asp76Gly missense ALDH1A2 1 82754 1.2084E-5 41377 0 NA
15-58306199-G-A c.223-3C>T splice_region ALDH1A2 2 82704 2.41826E-5 41352 0 3.98654E-6
15-58306201-T-TA c.223-6dupT splice_region ALDH1A2 29 82696 3.50682E-4 41348 1 0.00101417
15-58306205-G-C c.-75C>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 82674 1.20957E-5 41337 0 1.19604E-5
15-58306242-A-C c.-112T>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 6 82436 7.27837E-5 41218 0 3.18552E-5
15-58306264-T-A c.-134A>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 4 82304 4.86003E-5 41152 0 3.18918E-5
15-58306389-G-C p.Gln70Glu missense ALDH1A2 1 82880 1.20656E-5 41440 0 2.47158E-5
15-58306394-T-C p.Glu68Gly missense ALDH1A2 2 82896 2.41266E-5 41448 0 NA
15-58306399-C-T c.-91G>A 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 82916 1.20604E-5 41458 0 3.98048E-6
15-58306424-T-C p.Tyr58Cys missense ALDH1A2 10 82806 1.20764E-4 41403 0 0.00352467
15-58306436-A-T p.Val54Glu missense ALDH1A2 1 82700 1.20919E-5 41350 0 7.96413E-6
15-58306442-C-T p.Gly52Glu missense ALDH1A2 2 82694 2.41856E-5 41347 0 4.11957E-5
15-58306447-C-G p.Glu50Asp missense ALDH1A2 1 82616 1.21042E-5 41308 0 5.03525E-4
15-58306448-T-C p.Glu50Gly missense ALDH1A2 14 82592 1.69508E-4 41296 0 5.09424E-4
15-58306449-C-CT p.Glu50fs frameshift ALDH1A2 1 82594 1.21074E-5 41297 0 NA
15-58306464-C-T p.Glu45Lys missense ALDH1A2 2 82386 2.4276E-5 41193 0 NA
15-58306465-G-A c.-157C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 82390 1.21374E-5 41195 0 5.97605E-5
15-58306468-G-A p.Asn43Asn synonymous ALDH1A2 2 82362 2.4283E-5 41181 0 3.18471E-5
15-58306486-G-T c.118-7C>A splice_region ALDH1A2 1 82080 1.21832E-5 41040 0 8.24865E-6
15-58350208-A-G c.*91+2T>C splice_donor ALDH1A2 3 32910 9.11577E-5 16455 0 NA
15-58350224-T-C p.Ile14Val missense ALDH1A2 1 33578 2.97814E-5 16789 0 3.18735E-5
15-58350246-C-T p.Glu6Glu synonymous ALDH1A2 2 34600 5.78035E-5 17300 0 2.80991E-4
15-58357736-G-T p.Thr38Asn missense ALDH1A2 3 81262 3.69176E-5 40631 0 NA
15-58357737-T-C p.Thr38Ala missense ALDH1A2 1 81264 1.23056E-5 40632 0 NA
15-58357738-G-A p.Tyr37Tyr synonymous ALDH1A2 13 81312 1.59878E-4 40656 0 4.46144E-4
15-58357742-T-G p.Lys36Thr missense ALDH1A2 1 81472 1.22742E-5 40736 0 NA
15-58357755-T-C p.Asn32Asp missense ALDH1A2 2 81678 2.44864E-5 40839 0 3.19509E-5
15-58357757-G-A p.Pro31Leu missense ALDH1A2 1 81756 1.22315E-5 40878 0 NA
15-58357758-G-T p.Pro31Thr missense ALDH1A2 1 81740 1.22339E-5 40870 0 NA
15-58357766-G-A p.Ser28Leu missense ALDH1A2 1 81650 1.22474E-5 40825 0 1.70158E-5
15-58357768-C-A p.Pro27Pro synonymous ALDH1A2 1 81592 1.22561E-5 40796 0 NA
15-58357769-G-T p.Pro27Gln missense ALDH1A2 1 81690 1.22414E-5 40845 0 NA
15-58357777-G-T p.His24Gln missense ALDH1A2 2 81630 2.45008E-5 40815 0 8.05069E-6
15-58357782-G-A c.-94C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 2 81466 2.45501E-5 40733 0 3.18918E-5
15-58357783-C-A p.Ser22Ser synonymous ALDH1A2 2 81404 2.45688E-5 40702 0 3.19224E-5
15-58357787-G-A p.Ala21Val missense ALDH1A2 1 81366 1.22901E-5 40683 0 NA
15-58357794-G-A p.Leu19Phe missense ALDH1A2 1 81342 1.22938E-5 40671 0 NA
15-58357800-C-T p.Ala17Thr missense ALDH1A2 174 81162 0.00214386 40581 4 0.0196573
15-58357807-G-C p.Ala14Ala synonymous ALDH1A2 1 80980 1.23487E-5 40490 0 4.10965E-6
15-58357809-C-T p.Ala14Thr missense ALDH1A2 1 80958 1.23521E-5 40479 0 4.12303E-6
15-58357819-G-T p.Gly10Gly synonymous ALDH1A2 2 80798 2.47531E-5 40399 0 1.11714E-5
15-58357822-G-A c.-134C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 11 80748 1.36226E-4 40374 0 3.19326E-4
15-58357825-C-A p.Met8Ile missense ALDH1A2 1 80696 1.23922E-5 40348 0 9.57977E-5
15-58357825-C-T p.Met8Ile missense ALDH1A2 2 80696 2.47844E-5 40348 0 NA
15-58357828-C-A p.Glu7Asp missense ALDH1A2 1 80634 1.24017E-5 40317 0 NA
15-58357831-T-G p.Ile6Ile synonymous ALDH1A2 1 80482 1.24251E-5 40241 0 NA
15-58357832-A-G p.Ile6Thr missense ALDH1A2 1 80402 1.24375E-5 40201 0 1.73674E-5
15-58357837-G-A p.Ser4Ser synonymous ALDH1A2 2 80050 2.49844E-5 40025 0 6.38814E-5
15-58357844-G-T p.Thr2Asn missense ALDH1A2 1 79674 1.25511E-5 39837 0 1.44388E-5
15-58357846-C-T p.Met1? start_lost ALDH1A2 2 79574 2.51338E-5 39787 0 9.21752E-6
15-58357846-C-CT p.Met1fs frameshift ALDH1A2 2 79574 2.51338E-5 39787 0 9.21752E-6
15-58357847-A-ATCT c.1_2insAGA start_lost ALDH1A2 2 79534 2.51465E-5 39767 0 9.26166E-6
15-58357860-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 3 78838 3.80527E-5 39419 0 3.19754E-5
15-58357869-T-C c.-21A>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 78480 1.27421E-5 39240 0 6.86625E-5
15-58357917-G-A c.-69C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 2 75290 2.6564E-5 37645 0 NA
15-58357974-G-A c.-126C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 59122 1.69142E-5 29561 0 NA
15-58357983-G-A c.-135C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 54234 1.84386E-5 27117 0 9.63082E-5
15-58358011-T-A c.-163A>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 44108 2.26716E-5 22054 0 NA
15-58358020-C-A c.-172G>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 6 37598 1.59583E-4 18799 0 6.10697E-4
15-58358040-T-A c.-192A>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 30188 3.31257E-5 15094 0 NA
15-58430679-A-C c.-205T>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 78130 1.27992E-5 39065 0 NA
15-58430722-G-A c.-248C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 82100 1.21803E-5 41050 0 NA
15-58430724-T-C c.-250A>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 82152 1.21726E-5 41076 0 4.18466E-6
15-58430763-A-G c.-289T>C 5_prime_UTR_premature_start_codon_gain ALDH1A2 4914 82814 0.0593378 41407 157 0.0500672
15-58430771-C-A n.397G>T splice_region ALDH1A2 1 82982 1.20508E-5 41491 0 NA
15-58430833-G-A c.-359C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 8 83128 9.62371E-5 41564 0 0.00101112
15-58430849-G-C c.-375C>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 2 83094 2.40691E-5 41547 0 7.96356E-6
15-58430862-C-T c.-388G>A 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 83030 1.20438E-5 41515 0 3.18695E-5
15-58430863-G-A c.-389C>T 5_prime_UTR_premature_start_codon_gain ALDH1A2 12 83034 1.44519E-4 41517 0 1.81431E-4
15-58430910-A-G c.-436T>C 5_prime_UTR_premature_start_codon_gain ALDH1A2 254 82256 0.00308792 41128 4 0.00227692
15-58430944-G-C c.-470C>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 251 80950 0.00310068 40475 0 0.00315206
15-58431016-T-C c.-542A>G 5_prime_UTR_premature_start_codon_gain ALDH1A2 2 68910 2.90234E-5 34455 0 NA
15-58534195-C-G n.132-1G>C splice_acceptor ALDH1A2 1 56 0.0178571 28 0 0.00337472
15-58571401-A-T p.Met1? start_lost ALDH1A2 1188 9716 0.122273 4858 83 0.165
15-58571441-C-G c.-39G>C 5_prime_UTR_premature_start_codon_gain ALDH1A2 1 9038 1.10644E-4 4519 0 1.42126E-4