Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-19641541-T-C p.Gln452Arg missense ALDH3A1 1 82878 1.20659E-5 41439 0 6.38121E-5
17-19641546-C-T p.Met450Ile missense+splice_region ALDH3A1 1 82916 1.20604E-5 41458 0 3.18796E-5
17-19641551-G-GTGAAAGGGACACGGAGTGGGATC c.1348-4_1348-3insGATCCCACTCCGTGTCCCTTTCA splice_region ALDH3A1 1 82930 1.20584E-5 41465 0 NA
17-19641629-C-G c.1347+7G>C splice_region ALDH3A1 1 83010 1.20467E-5 41505 0 NA
17-19641635-C-T c.1347+1G>A splice_donor ALDH3A1 2 82906 2.41237E-5 41453 0 6.37186E-5
17-19641638-T-C p.Lys449Glu missense+splice_region ALDH3A1 5 82912 6.03049E-5 41456 0 9.56572E-5
17-19641642-C-T p.Pro447Pro synonymous ALDH3A1 3 82930 3.61751E-5 41465 0 1.65177E-5
17-19641643-G-A p.Pro447Leu missense ALDH3A1 2 82958 2.41086E-5 41479 0 3.30344E-5
17-19641648-C-T p.Pro445Pro synonymous ALDH3A1 2 82992 2.40987E-5 41496 0 NA
17-19641648-CG-C p.Pro445fs frameshift ALDH3A1 2 82992 2.40987E-5 41496 0 3.18735E-5
17-19641648-C-CG p.Ser446fs frameshift ALDH3A1 1 82992 1.20494E-5 41496 0 NA
17-19641648-CGGG-C p.Pro445del disruptive_inframe_deletion ALDH3A1 1 82992 1.20494E-5 41496 0 NA
17-19641649-G-A p.Pro445Leu missense ALDH3A1 3 83010 3.61402E-5 41505 0 1.91205E-4
17-19641650-G-T p.Pro445Thr missense ALDH3A1 2 83030 2.40877E-5 41515 0 NA
17-19641651-G-T p.Pro444Pro synonymous ALDH3A1 1 83038 1.20427E-5 41519 0 2.47737E-5
17-19641651-G-A p.Pro444Pro synonymous ALDH3A1 5 83038 6.02134E-5 41519 0 2.78587E-5
17-19641654-G-A p.Tyr443Tyr synonymous ALDH3A1 8 83036 9.63438E-5 41518 0 8.25614E-6
17-19641654-G-T p.Tyr443* stop_gained ALDH3A1 1 83036 1.2043E-5 41518 0 3.18735E-5
17-19641656-A-C p.Tyr443Asp missense ALDH3A1 1 83048 1.20412E-5 41524 0 NA
17-19641670-C-G p.Gly438Ala missense ALDH3A1 1 83092 1.20349E-5 41546 0 NA
17-19641671-C-T p.Gly438Ser missense ALDH3A1 4 83106 4.81313E-5 41553 0 NA
17-19641686-GAGGCCTCACC-G p.Val430fs frameshift ALDH3A1 1 83126 1.20299E-5 41563 0 NA
17-19641695-C-T p.Trp396* stop_gained ALDH3A1 6 83120 7.21848E-5 41560 0 5.03525E-4
17-19641699-G-A p.Ala395Val missense ALDH3A1 1 83128 1.20296E-5 41564 0 8.26528E-6
17-19641705-G-A p.Ala393Val missense ALDH3A1 2 83138 2.40564E-5 41569 0 4.13544E-5
17-19641706-C-T p.Arg426His missense ALDH3A1 3 83128 3.60889E-5 41564 0 2.38933E-5
17-19641707-G-A p.Arg426Cys missense ALDH3A1 4 83136 4.81139E-5 41568 0 2.48102E-5
17-19641709-C-T p.Arg425His missense ALDH3A1 13 83118 1.56404E-4 41559 0 6.25E-4
17-19641710-G-A p.Arg425Cys missense ALDH3A1 5 83120 6.0154E-5 41560 0 3.58369E-5
17-19641716-AG-A p.Ser423fs frameshift ALDH3A1 1 83006 1.20473E-5 41503 0 NA
17-19641726-G-A p.Ser386Leu missense ALDH3A1 2 82964 2.41068E-5 41482 0 8.27636E-6
17-19641728-A-T p.Phe419Ile missense ALDH3A1 1 83000 1.20482E-5 41500 0 3.98124E-6
17-19641729-GC-G p.Ser418fs frameshift ALDH3A1 4 82984 4.82021E-5 41492 0 1.65546E-5
17-19641744-G-A p.Thr380Ile missense ALDH3A1 979 82916 0.0118071 41458 27 0.0211805
17-19641747-G-C p.Pro379Arg missense ALDH3A1 1 82928 1.20587E-5 41464 0 NA
17-19641758-C-T p.Gly409Ser missense ALDH3A1 1 82812 1.20755E-5 41406 0 6.37227E-5
17-19641765-C-G p.Gly373Ala missense+splice_region ALDH3A1 1 82752 1.20843E-5 41376 0 5.8184E-5
17-19641770-C-T c.1217-4G>A splice_region ALDH3A1 2 82576 2.42201E-5 41288 0 2.79524E-5
17-19642309-C-T p.Gly406Arg missense+splice_region ALDH3A1 1 82398 1.21362E-5 41199 0 NA
17-19642313-G-A p.Gly404Gly synonymous ALDH3A1 9 82460 1.09144E-4 41230 0 2.233E-4
17-19642315-C-T p.Gly404Ser missense ALDH3A1 1 82550 1.21139E-5 41275 0 1.20158E-5
17-19642316-C-T p.Gly403Gly synonymous ALDH3A1 1 82566 1.21115E-5 41283 0 4.00221E-6
17-19642319-G-A p.Phe402Phe synonymous ALDH3A1 68 82630 8.22946E-4 41315 0 0.00202224
17-19642321-A-C p.Phe402Val missense ALDH3A1 1 82716 1.20896E-5 41358 0 NA
17-19642338-G-T p.Thr396Asn missense ALDH3A1 1 82910 1.20613E-5 41455 0 2.55089E-5
17-19642344-T-C p.His394Arg missense ALDH3A1 1 82962 1.20537E-5 41481 0 NA
17-19642348-C-T p.Val393Ile missense ALDH3A1 180 82952 0.00216993 41476 0 0.00449617
17-19642368-ACCCCACCACTGGATGT-A p.Thr381fs frameshift ALDH3A1 5 82980 6.02555E-5 41490 0 8.47889E-5
17-19642384-T-C p.Thr381Ala missense ALDH3A1 1 82958 1.20543E-5 41479 0 1.19607E-5
17-19642386-T-C p.Glu380Gly missense ALDH3A1 1 82958 1.20543E-5 41479 0 3.98985E-6
17-19642395-ATCT-A p.Lys376del disruptive_inframe_deletion ALDH3A1 5 82880 6.03282E-5 41440 0 1.59997E-5
17-19642403-A-G p.Ile374Ile synonymous ALDH3A1 1 82746 1.20852E-5 41373 0 NA
17-19642405-T-C p.Ile374Val missense ALDH3A1 2 82682 2.41891E-5 41341 0 9.40769E-6
17-19642826-C-T p.Asp371Asn missense ALDH3A1 9 82304 1.09351E-4 41152 0 6.46847E-5
17-19642827-G-A p.Asn370Asn synonymous ALDH3A1 2 82312 2.42978E-5 41156 0 3.82195E-5
17-19642830-G-A p.Ser369Ser synonymous ALDH3A1 2 82354 2.42854E-5 41177 0 1.23824E-5
17-19642838-AC-A p.Met366fs frameshift ALDH3A1 1 82416 1.21336E-5 41208 0 NA
17-19642849-G-A p.Ala363Val missense ALDH3A1 1 82452 1.21283E-5 41226 0 4.05045E-6
17-19642859-T-A p.Lys360* stop_gained ALDH3A1 1 82522 1.2118E-5 41261 0 4.02966E-6
17-19642862-C-T p.Glu359Lys missense ALDH3A1 2 82524 2.42354E-5 41262 0 NA
17-19642865-G-A p.Arg358Cys missense ALDH3A1 3 82514 3.63575E-5 41257 0 1.59256E-4
17-19642885-G-A p.Ala351Val missense ALDH3A1 38 82560 4.60271E-4 41280 0 0.00159286
17-19642885-GCCT-G p.Glu350del disruptive_inframe_deletion ALDH3A1 1 82562 1.21121E-5 41281 0 0.0020202
17-19642888-T-G p.Glu350Ala missense ALDH3A1 1 82552 1.21136E-5 41276 0 NA
17-19642898-T-TGCGC p.Ser347fs frameshift ALDH3A1 2 82540 2.42307E-5 41270 0 9.04895E-6
17-19642900-C-T p.Arg346His missense ALDH3A1 7 82512 8.48361E-5 41256 0 5.05561E-4
17-19642901-G-A p.Arg346Cys missense ALDH3A1 5 82526 6.0587E-5 41263 0 4.4977E-5
17-19642910-C-T p.Val343Met missense ALDH3A1 52 82554 6.29891E-4 41277 0 2.67769E-4
17-19642911-G-A p.Ile342Ile synonymous ALDH3A1 1 82548 1.21142E-5 41274 0 1.19871E-5
17-19642912-A-G p.Ile342Thr missense ALDH3A1 11 82548 1.33256E-4 41274 0 1.58401E-4
17-19642917-C-T p.Leu340Leu synonymous ALDH3A1 1 82552 1.21136E-5 41276 0 NA
17-19642920-C-A p.Val339Val synonymous ALDH3A1 2 82544 2.42295E-5 41272 0 8.73378E-6
17-19642925-G-A p.Pro338Ser missense ALDH3A1 1 82542 1.2115E-5 41271 0 NA
17-19642928-C-T p.Gly337Arg missense ALDH3A1 1 82540 1.21153E-5 41270 0 1.7359E-5
17-19642931-A-T p.Phe336Ile missense ALDH3A1 2 82520 2.42365E-5 41260 0 NA
17-19642934-TCTC-T p.Glu334del conservative_inframe_deletion ALDH3A1 3 82506 3.6361E-5 41253 0 NA
17-19642934-T-G p.Ile335Leu missense ALDH3A1 2 82506 2.42407E-5 41253 0 NA
17-19642938-C-T c.808-1G>A splice_acceptor ALDH3A1 14 82526 1.69644E-4 41263 0 4.1396E-4
17-19642950-C-G p.Pro329Pro synonymous ALDH3A1 19 82380 2.30638E-4 41190 0 3.82166E-4
17-19642950-CGG-TGC p.Pro329Ala missense ALDH3A1 1 82382 1.21386E-5 41191 0 NA
17-19642951-G-A p.Pro329Leu missense ALDH3A1 4 82372 4.85602E-5 41186 1 2.57078E-5
17-19642952-G-C p.Pro329Ala missense ALDH3A1 24908 81728 0.304767 40864 4092 0.360625
17-19642953-G-A p.Ser328Ser synonymous ALDH3A1 1 82350 1.21433E-5 41175 0 2.55754E-5
17-19642965-C-T p.Val324Val synonymous ALDH3A1 2 82210 2.43279E-5 41105 0 6.85272E-5
17-19642967-C-T p.Val324Met missense ALDH3A1 1 82146 1.21734E-5 41073 0 1.60087E-5
17-19642968-G-A p.Asp323Asp synonymous ALDH3A1 3 82112 3.65355E-5 41056 0 NA
17-19642972-G-A p.Thr322Met missense ALDH3A1 3 82028 3.65729E-5 41014 0 9.47802E-5
17-19642974-G-A p.Leu321Leu synonymous ALDH3A1 6 81994 7.31761E-5 40997 0 1.16176E-4
17-19642976-G-T p.Leu321Ile missense ALDH3A1 1 81966 1.22002E-5 40983 0 NA
17-19642989-TGAG-T c.950-5_950-3delCTC splice_region ALDH3A1 3 81398 3.68559E-5 40699 0 2.61534E-5
17-19643488-C-T n.567G>A splice_region ALDH3A1 2 71262 2.80654E-5 35631 0 NA
17-19643488-C-A n.567G>T splice_region ALDH3A1 2 71262 2.80654E-5 35631 0 NA
17-19643490-C-T n.565G>A splice_region ALDH3A1 1 71532 1.39798E-5 35766 0 NA
17-19643644-C-T c.949+5G>A splice_region ALDH3A1 1 82508 1.212E-5 41254 0 1.19863E-5
17-19643645-G-A c.949+4C>T splice_region ALDH3A1 1 82542 1.2115E-5 41271 0 8.27609E-6
17-19643648-C-G c.949+1G>C splice_donor ALDH3A1 2 82618 2.42078E-5 41309 0 1.65434E-5
17-19643654-T-C p.Tyr315Cys missense ALDH3A1 3 82726 3.62643E-5 41363 0 2.58956E-4
17-19643657-C-T p.Arg314His missense ALDH3A1 2 82756 2.41674E-5 41378 0 NA
17-19643658-G-A p.Arg314Cys missense ALDH3A1 89 82766 0.00107532 41383 1 0.00135093
17-19643658-G-T p.Arg314Ser missense ALDH3A1 2 82766 2.41645E-5 41383 0 3.18552E-5
17-19643665-G-A p.Ala311Ala synonymous ALDH3A1 205 82780 0.00247644 41390 0 0.00391944
17-19643669-T-G p.Asp310Ala missense ALDH3A1 1 82804 1.20767E-5 41402 0 NA
17-19643671-C-A p.Gly309Gly synonymous ALDH3A1 2 82844 2.41418E-5 41422 0 NA
17-19643672-C-T p.Gly309Glu missense ALDH3A1 146 82846 0.00176231 41423 3 0.00478587
17-19643673-C-T p.Gly309Arg missense ALDH3A1 9 82858 1.0862E-4 41429 0 3.5832E-5
17-19643674-G-A p.Thr308Thr synonymous ALDH3A1 3 82768 3.62459E-5 41384 0 3.58346E-5
17-19643684-T-A p.Tyr305Phe missense ALDH3A1 370 82966 0.00445966 41483 6 0.00749076
17-19643690-A-G p.Val303Ala missense ALDH3A1 1 83036 1.2043E-5 41518 0 3.97757E-6
17-19643691-C-G p.Val303Leu missense ALDH3A1 1 83058 1.20398E-5 41529 0 NA
17-19643697-G-A p.Gln301* stop_gained ALDH3A1 1 83098 1.2034E-5 41549 0 3.18939E-5
17-19643699-C-T p.Gly300Asp missense ALDH3A1 757 83082 0.00911148 41541 5 0.010625
17-19643711-C-T p.Gly296Asp missense ALDH3A1 1 83202 1.20189E-5 41601 0 6.37552E-5
17-19643712-C-T p.Gly296Ser missense ALDH3A1 1 83218 1.20166E-5 41609 0 NA
17-19643718-C-T p.Val294Met missense ALDH3A1 1 83254 1.20114E-5 41627 0 3.97662E-6
17-19643732-C-T p.Arg289Gln missense ALDH3A1 28 83294 3.36159E-4 41647 0 3.50743E-4
17-19643733-G-A p.Arg289Trp missense ALDH3A1 6 83296 7.20323E-5 41648 1 9.57426E-5
17-19643739-T-C p.Ser287Gly missense ALDH3A1 4 83302 4.80181E-5 41651 0 NA
17-19643753-T-C p.Tyr282Cys missense ALDH3A1 13 83294 1.56074E-4 41647 0 7.33271E-4
17-19643755-G-A p.Asp281Asp synonymous ALDH3A1 2 83296 2.40108E-5 41648 0 6.37755E-5
17-19643757-C-G p.Asp281His missense ALDH3A1 1 83296 1.20054E-5 41648 0 8.24212E-6
17-19643759-C-T p.Arg280Gln missense ALDH3A1 4 83286 4.80273E-5 41643 0 3.19E-5
17-19643760-G-A p.Arg280Trp missense ALDH3A1 4 83278 4.80319E-5 41639 0 6.76154E-5
17-19643762-G-C p.Ser279Cys missense ALDH3A1 16 83282 1.92118E-4 41641 0 7.95431E-5
17-19643767-C-T p.Lys277Lys synonymous ALDH3A1 1 83280 1.20077E-5 41640 0 6.37877E-5
17-19643781-C-T p.Gly273Arg missense ALDH3A1 2 83242 2.40263E-5 41621 0 6.37511E-5
17-19643782-G-A p.Tyr272Tyr synonymous ALDH3A1 3 83234 3.6043E-5 41617 0 3.18837E-5
17-19643789-T-G p.Glu270Ala missense+splice_region ALDH3A1 462 83180 0.00555422 41590 6 0.00982268
17-19643792-T-C c.808-2A>G splice_acceptor ALDH3A1 1 83182 1.20218E-5 41591 0 3.18796E-5
17-19644400-A-G c.807+6T>C splice_region ALDH3A1 1 83160 1.2025E-5 41580 0 NA
17-19644423-G-A p.Leu264Phe missense ALDH3A1 1 83234 1.20143E-5 41617 0 3.18451E-5
17-19644430-C-T p.Val261Val synonymous ALDH3A1 2 83232 2.40292E-5 41616 0 9.14593E-5
17-19644439-G-C p.Asn258Lys missense ALDH3A1 1 83254 1.20114E-5 41627 0 8.23859E-6
17-19644449-G-A p.Ser255Leu missense ALDH3A1 2 83260 2.40211E-5 41630 0 3.18613E-5
17-19644453-G-A p.Pro254Ser missense ALDH3A1 1 83270 1.20091E-5 41635 0 NA
17-19644454-G-A p.Asp253Asp synonymous ALDH3A1 1 83274 1.20085E-5 41637 0 1.19297E-5
17-19644456-C-T p.Asp253Asn missense ALDH3A1 1 83266 1.20097E-5 41633 0 1.15325E-4
17-19644462-G-A p.Leu251Phe missense ALDH3A1 6 83300 7.20288E-5 41650 0 3.18573E-5
17-19644466-G-A p.Tyr249Tyr synonymous ALDH3A1 1 83306 1.20039E-5 41653 0 NA
17-19644472-A-T p.Pro247Pro synonymous ALDH3A1 27735 83064 0.333899 41532 4989 0.357661
17-19644473-GGGGCCAC-G p.Val245fs frameshift ALDH3A1 3 83298 3.60153E-5 41649 0 3.18512E-5
17-19644480-C-T p.Val245Met missense ALDH3A1 5 83280 6.00384E-5 41640 0 3.29516E-5
17-19644493-A-G p.Ser240Ser synonymous ALDH3A1 2 83284 2.40142E-5 41642 0 2.47145E-5
17-19644493-A-T p.Ser240Arg missense ALDH3A1 1 83284 1.20071E-5 41642 0 3.97731E-6
17-19644494-CTG-C p.Asn239fs frameshift ALDH3A1 1 83286 1.20068E-5 41643 0 1.64764E-5
17-19644495-T-A p.Ser240Cys missense ALDH3A1 1 83286 1.20068E-5 41643 0 NA
17-19644495-T-C p.Ser240Gly missense ALDH3A1 1 83286 1.20068E-5 41643 0 NA
17-19644498-T-C p.Asn239Asp missense ALDH3A1 1 83284 1.20071E-5 41642 0 8.23832E-6
17-19644501-T-C p.Met238Val missense ALDH3A1 2 83284 2.40142E-5 41642 0 2.4715E-5
17-19644502-G-A p.Phe237Phe synonymous ALDH3A1 1 83286 1.20068E-5 41643 0 NA
17-19644510-C-T p.Gly235Arg missense ALDH3A1 2 83274 2.40171E-5 41637 0 9.55414E-5
17-19644512-C-T p.Trp234* stop_gained ALDH3A1 1 83274 1.20085E-5 41637 0 8.23968E-6
17-19644516-C-T p.Ala233Thr missense ALDH3A1 18 83252 2.16211E-4 41626 0 7.00815E-4
17-19644516-C-A p.Ala233Ser missense ALDH3A1 14 83252 1.68164E-4 41626 0 2.22987E-4
17-19644520-G-A p.Arg231Arg synonymous ALDH3A1 3 83236 3.60421E-5 41618 0 6.36902E-5
17-19644521-C-T p.Arg231His missense+splice_region ALDH3A1 5 83216 6.00846E-5 41608 0 2.23001E-4
17-19644522-G-A p.Arg231Cys missense+splice_region ALDH3A1 1 83218 1.20166E-5 41609 0 3.18634E-5
17-19645317-C-T p.Arg230Gln missense+splice_region ALDH3A1 2 77404 2.58385E-5 38702 0 3.19183E-5
17-19645318-G-C p.Arg230Gly missense+splice_region ALDH3A1 1 77346 1.29289E-5 38673 0 3.1902E-5
17-19645318-G-A p.Arg230* stop_gained ALDH3A1 1 77346 1.29289E-5 38673 0 8.43569E-6
17-19645328-G-A p.Asp226Asp synonymous ALDH3A1 4 78574 5.09074E-5 39287 0 3.18898E-5
17-19645334-G-T p.Asp224Glu missense ALDH3A1 2 79406 2.5187E-5 39703 0 NA
17-19645339-A-C p.Cys223Gly missense ALDH3A1 1 79880 1.25188E-5 39940 0 NA
17-19645341-T-G p.Asn222Thr missense ALDH3A1 1 80024 1.24963E-5 40012 0 1.59641E-5
17-19645345-T-G p.Lys221Gln missense ALDH3A1 1 80272 1.24576E-5 40136 0 NA
17-19645351-C-T p.Val219Met missense ALDH3A1 1 80584 1.24094E-5 40292 0 3.18837E-5
17-19645352-G-A p.Tyr218Tyr synonymous ALDH3A1 2 80594 2.48157E-5 40297 0 NA
17-19645365-T-G p.Lys214Thr missense ALDH3A1 1 81308 1.22989E-5 40654 0 NA
17-19645368-C-T p.Gly213Glu missense ALDH3A1 1 81444 1.22784E-5 40722 0 1.99262E-5
17-19645381-G-C p.Leu209Val missense ALDH3A1 1 81626 1.2251E-5 40813 0 NA
17-19645383-G-A p.Thr208Met missense ALDH3A1 1 81626 1.2251E-5 40813 0 6.37674E-5
17-19645392-G-T p.Thr205Asn missense ALDH3A1 1 81792 1.22261E-5 40896 0 NA
17-19645393-T-C p.Thr205Ala missense ALDH3A1 1 81722 1.22366E-5 40861 0 NA
17-19645399-G-T p.His203Asn missense ALDH3A1 3 81798 3.66757E-5 40899 0 8.28157E-6
17-19645409-A-G p.Ala199Ala synonymous ALDH3A1 1 81862 1.22157E-5 40931 0 7.96756E-6
17-19645412-C-T p.Thr198Thr synonymous ALDH3A1 686 81786 0.00838774 40893 10 0.0241692
17-19645413-G-A p.Thr198Met missense ALDH3A1 3 81864 3.66461E-5 40932 0 1.40724E-4
17-19645417-T-C p.Met197Val missense ALDH3A1 1 81992 1.21963E-5 40996 0 3.18959E-5
17-19645421-G-A p.Ile195Ile synonymous ALDH3A1 1 82036 1.21898E-5 41018 0 8.27746E-6
17-19645431-AC-A p.Val192fs frameshift ALDH3A1 1 82046 1.21883E-5 41023 0 2.48287E-5
17-19645432-C-A p.Val192Leu missense ALDH3A1 1 82128 1.21761E-5 41064 0 3.98476E-6
17-19645433-C-A p.Gly191Gly synonymous ALDH3A1 2 82126 2.43528E-5 41063 0 7.97003E-6
17-19645436-C-T p.Thr190Thr synonymous ALDH3A1 2 82188 2.43345E-5 41094 0 3.19101E-5
17-19645437-G-A p.Thr190Met missense ALDH3A1 3 82152 3.65177E-5 41076 0 1.59392E-5
17-19645445-C-T p.Thr187Thr synonymous ALDH3A1 2 82392 2.42742E-5 41196 0 1.65451E-5
17-19645446-G-A p.Thr187Met missense ALDH3A1 1 82414 1.21339E-5 41207 0 1.19485E-5
17-19645446-G-T p.Thr187Lys missense ALDH3A1 1 82414 1.21339E-5 41207 0 NA
17-19645447-T-C p.Thr187Ala missense ALDH3A1 4 82464 4.8506E-5 41232 1 NA
17-19645452-A-G p.Leu185Pro missense ALDH3A1 6 82594 7.26445E-5 41297 0 9.56877E-5
17-19645457-A-G p.His183His synonymous ALDH3A1 4 82654 4.83945E-5 41327 0 6.38203E-5
17-19645458-T-C p.His183Arg missense ALDH3A1 16 82654 1.93578E-4 41327 0 2.55053E-4
17-19645462-C-T p.Asp182Asn missense ALDH3A1 4 82680 4.83793E-5 41340 0 6.25E-4
17-19645463-G-A p.Phe181Phe synonymous ALDH3A1 15 82686 1.81409E-4 41343 0 1.91375E-4
17-19645469-C-G p.Glu179Asp missense ALDH3A1 2 82820 2.41488E-5 41410 0 7.43998E-5
17-19645472-C-G p.Lys178Asn missense ALDH3A1 1 82832 1.20726E-5 41416 0 NA
17-19645472-C-T p.Lys178Lys synonymous ALDH3A1 1 82832 1.20726E-5 41416 0 NA
17-19645484-C-T p.Thr174Thr synonymous ALDH3A1 4 82896 4.82532E-5 41448 0 1.59179E-5
17-19645485-G-A p.Thr174Met missense ALDH3A1 1 82902 1.20624E-5 41451 0 5.03525E-4
17-19645499-A-G p.Gly169Gly synonymous ALDH3A1 6 82892 7.23833E-5 41446 0 4.13162E-5
17-19645506-T-C p.Asn167Ser missense ALDH3A1 1 82926 1.20589E-5 41463 0 1.276E-4
17-19645522-G-C p.Leu162Val missense ALDH3A1 2 82796 2.41558E-5 41398 0 1.99164E-5
17-19645852-ACT-A c.480+4_480+5delAG splice_region ALDH3A1 2 82326 2.42937E-5 41163 0 8.42957E-6
17-19645852-A-T c.480+6T>A splice_region ALDH3A1 2 82326 2.42937E-5 41163 0 NA
17-19645876-G-A p.Ile154Ile synonymous ALDH3A1 6 82796 7.24673E-5 41398 0 6.37186E-5
17-19645878-T-G p.Ile154Leu missense ALDH3A1 3 82836 3.62161E-5 41418 0 3.18735E-5
17-19645891-C-T p.Leu149Leu synonymous ALDH3A1 3 82908 3.61847E-5 41454 0 8.26624E-6
17-19645895-C-T p.Ser148Asn missense ALDH3A1 3 82926 3.61768E-5 41463 0 6.37227E-5
17-19645897-C-T p.Ala147Ala synonymous ALDH3A1 1 82924 1.20592E-5 41462 0 3.30322E-5
17-19645898-G-A p.Ala147Val missense ALDH3A1 7 82918 8.44208E-5 41459 0 1.48615E-4
17-19645905-TCTCA-T p.Ser143fs frameshift ALDH3A1 61 82974 7.3517E-4 41487 0 5.13453E-4
17-19645914-G-A p.Leu142Leu synonymous ALDH3A1 12 82988 1.44599E-4 41494 0 3.18654E-4
17-19645922-G-A p.Pro139Leu missense ALDH3A1 7 83010 8.43272E-5 41505 0 1.91241E-4
17-19645927-G-A p.Leu137Leu synonymous ALDH3A1 1 83022 1.2045E-5 41511 0 5.77186E-5
17-19645938-A-C p.Ser134Ala missense ALDH3A1 54395 82122 0.662368 41061 18186 0.705722
17-19645938-AG-CA p.AsnSer133AsnAla missense ALDH3A1 6 82976 7.23101E-5 41488 0 NA
17-19645938-A-T p.Ser134Thr missense ALDH3A1 1 82976 1.20517E-5 41488 0 6.38896E-5
17-19645939-G-A n.375C>T splice_region ALDH3A1 10 82974 1.2052E-4 41487 0 1.59408E-4
17-19645942-C-A p.Gly132Gly splice_region+synonymous ALDH3A1 1 82964 1.20534E-5 41482 0 NA
17-19645944-C-G c.395-1G>C splice_acceptor ALDH3A1 27 82966 3.25435E-4 41483 1 2.73075E-4
17-19646045-G-A n.273-4C>T splice_region ALDH3A1 7 81224 8.61814E-5 40612 0 9.56206E-5
17-19646047-G-A n.273-6C>T splice_region ALDH3A1 2 81182 2.4636E-5 40591 0 4.07315E-5
17-19646049-C-G n.273-8G>C splice_region ALDH3A1 7 81148 8.62621E-5 40574 0 6.28509E-5
17-19646541-G-A c.394+4C>T splice_region ALDH3A1 1 81990 1.21966E-5 40995 0 NA
17-19646548-C-A p.Ala131Ser missense ALDH3A1 1 82058 1.21865E-5 41029 0 NA
17-19646551-C-T p.Ala130Thr missense ALDH3A1 2 82066 2.43706E-5 41033 0 1.68084E-5
17-19646552-G-A p.Ile129Ile synonymous ALDH3A1 80 82128 9.74089E-4 41064 0 6.37674E-4
17-19646557-C-T p.Ala128Thr missense ALDH3A1 2 82144 2.43475E-5 41072 0 6.37959E-5
17-19646569-G-A p.Pro124Ser missense ALDH3A1 1 82312 1.21489E-5 41156 0 NA
17-19646573-G-T p.Ile122Ile synonymous ALDH3A1 1 82426 1.21321E-5 41213 0 NA
17-19646575-T-C p.Ile122Val missense ALDH3A1 2 82470 2.42512E-5 41235 0 3.98998E-6
17-19646577-G-A p.Thr121Ile missense ALDH3A1 2 82530 2.42336E-5 41265 0 3.50788E-4
17-19646588-G-A p.Pro117Pro synonymous ALDH3A1 2 82754 2.4168E-5 41377 0 7.96584E-6
17-19646590-G-A p.Pro117Ser missense ALDH3A1 1 82804 1.20767E-5 41402 0 NA
17-19646603-G-A p.Gly112Gly synonymous ALDH3A1 1 82924 1.20592E-5 41462 0 NA
17-19646611-C-T p.Val110Ile missense ALDH3A1 12 82998 1.44582E-4 41499 0 4.464E-4
17-19646615-G-A p.Val108Val synonymous ALDH3A1 3 83068 3.6115E-5 41534 0 NA
17-19646620-C-T p.Val107Met missense ALDH3A1 1 83092 1.20349E-5 41546 0 3.18756E-5
17-19646621-G-A p.Gly106Gly synonymous ALDH3A1 1 83106 1.20328E-5 41553 0 8.24552E-6
17-19646623-CCAGTGGCTCCGAGT-C p.His101fs frameshift ALDH3A1 2 83152 2.40523E-5 41576 0 NA
17-19646632-C-T p.Glu103Lys missense ALDH3A1 1 83198 1.20195E-5 41599 0 NA
17-19646634-G-A p.Ser102Leu missense ALDH3A1 2 83196 2.40396E-5 41598 0 3.18695E-5
17-19646635-A-C p.Ser102Ala missense ALDH3A1 1 83204 1.20187E-5 41602 0 NA
17-19646641-T-G p.Ile100Leu missense ALDH3A1 52 83248 6.2464E-4 41624 0 0.00302115
17-19646651-G-A p.Asp96Asp synonymous ALDH3A1 4 83254 4.80457E-5 41627 0 6.37471E-5
17-19646654-C-T p.Gln95Gln synonymous ALDH3A1 1 83262 1.20103E-5 41631 0 NA
17-19646668-G-A p.Pro91Ser missense ALDH3A1 1 83284 1.20071E-5 41642 0 1.19309E-5
17-19646669-C-T p.Thr90Thr synonymous ALDH3A1 2 83278 2.40159E-5 41639 0 3.97712E-6
17-19646680-C-T p.Val87Met missense ALDH3A1 4 83284 4.80284E-5 41642 0 1.40146E-4
17-19646681-G-A p.Pro86Pro synonymous ALDH3A1 349 83274 0.00419098 41637 2 0.00898948
17-19646690-C-T p.Ala83Ala synonymous ALDH3A1 9 83282 1.08067E-4 41641 0 6.0552E-4
17-19646691-G-A p.Ala83Val missense ALDH3A1 4 83268 4.80377E-5 41634 0 6.37389E-5
17-19646693-G-A p.Ala82Ala synonymous ALDH3A1 1 83274 1.20085E-5 41637 0 1.19338E-5
17-19646699-C-T p.Glu80Glu synonymous ALDH3A1 11 83268 1.32104E-4 41634 0 6.25E-4
17-19646703-G-A p.Pro79Leu missense ALDH3A1 37 83268 4.44348E-4 41634 0 2.66554E-4
17-19646707-G-A p.Leu78Phe missense ALDH3A1 1 83274 1.20085E-5 41637 0 NA
17-19646715-A-G p.Ile75Thr missense ALDH3A1 1 83278 1.2008E-5 41639 0 NA
17-19646738-G-C p.Val67Val synonymous ALDH3A1 1 83260 1.20106E-5 41630 0 4.00657E-6
17-19646750-C-T p.Glu63Glu synonymous ALDH3A1 2256 83176 0.0271232 41588 61 0.0795569
17-19646752-C-T p.Glu63Lys missense ALDH3A1 1 83214 1.20172E-5 41607 0 3.18776E-5
17-19646755-C-T p.Glu62Lys missense ALDH3A1 1 83194 1.20201E-5 41597 0 NA
17-19646758-A-G p.Tyr61His missense ALDH3A1 1 83176 1.20227E-5 41588 0 3.1902E-5
17-19646760-T-C p.Tyr60Cys missense ALDH3A1 3 83160 3.6075E-5 41580 0 1.22641E-5
17-19646765-G-A c.-46C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 3 83082 3.61089E-5 41541 0 9.56572E-5
17-19646767-T-G p.Asn58His missense ALDH3A1 3 83082 3.61089E-5 41541 0 NA
17-19646783-C-T c.163-7G>A splice_region ALDH3A1 5 82726 6.04405E-5 41363 0 2.86917E-4
17-19646784-G-A c.163-8C>T splice_region ALDH3A1 23 82706 2.78093E-4 41353 0 1.59398E-4
17-19648283-T-C p.Lys54Glu missense+splice_region ALDH3A1 1 40542 2.46658E-5 20271 0 3.11935E-5
17-19648289-G-T p.Leu52Met missense ALDH3A1 1 41068 2.43499E-5 20534 0 NA
17-19648289-G-C p.Leu52Val missense ALDH3A1 1 41068 2.43499E-5 20534 0 NA
17-19648296-G-T p.Ala49Ala synonymous ALDH3A1 1 41546 2.40697E-5 20773 0 7.41693E-5
17-19648300-A-G p.Leu48Pro missense ALDH3A1 1 41908 2.38618E-5 20954 0 NA
17-19648302-C-T p.Ala47Ala synonymous ALDH3A1 290 41874 0.00692554 20937 3 0.0234694
17-19648312-A-AGCTCCT p.Gln42_Glu43dup conservative_inframe_insertion ALDH3A1 3 42958 6.98357E-5 21479 0 3.76308E-4
17-19648314-C-G p.Glu43Asp missense ALDH3A1 4 43082 9.28462E-5 21541 0 0.00189155
17-19648316-C-G p.Glu43Gln missense ALDH3A1 125 43376 0.00288178 21688 3 0.00659242
17-19648324-T-C p.Gln40Arg missense ALDH3A1 5 43948 1.13771E-4 21974 0 4.39712E-4
17-19648346-G-C p.Leu33Val missense ALDH3A1 2 45590 4.38693E-5 22795 0 9.70568E-5
17-19648349-C-T p.Ala32Thr missense ALDH3A1 18 45900 3.92157E-4 22950 0 9.90289E-4
17-19648357-T-G p.Gln29Pro missense ALDH3A1 6 46642 1.28639E-4 23321 0 9.58038E-5
17-19648367-G-A p.Arg26Trp missense ALDH3A1 3 47520 6.31313E-5 23760 0 6.38081E-5
17-19648383-G-T p.Thr20Thr synonymous ALDH3A1 1 48032 2.08195E-5 24016 0 NA
17-19648390-C-T p.Gly18Asp missense ALDH3A1 1 48180 2.07555E-5 24090 0 NA
17-19648394-A-C p.Ser17Ala missense ALDH3A1 3 48052 6.24324E-5 24026 0 9.49974E-6
17-19648406-C-A p.Ala13Ser missense ALDH3A1 2 47662 4.19622E-5 23831 0 6.66337E-5
17-19648407-G-A p.Arg12Arg synonymous ALDH3A1 2 47664 4.19604E-5 23832 0 9.50588E-6
17-19648414-C-G p.Arg10Pro missense ALDH3A1 1 47206 2.11837E-5 23603 0 4.56438E-6
17-19648415-G-C p.Arg10Gly missense ALDH3A1 11 47504 2.31559E-4 23752 0 4.46513E-4
17-19648426-T-C p.Glu6Gly missense ALDH3A1 19 47458 4.00354E-4 23729 0 2.19768E-4
17-19648429-C-A p.Ser5Ile missense ALDH3A1 6 47364 1.26678E-4 23682 0 1.27453E-4
17-19648430-T-C p.Ser5Gly missense ALDH3A1 1 47446 2.10766E-5 23723 0 3.75661E-5
17-19648445-C-T c.-3G>A splice_region ALDH3A1 2 46580 4.29369E-5 23290 0 4.88286E-6
17-19648621-C-A c.-179G>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 10 28390 3.52237E-4 14195 0 3.18451E-5
17-19648692-C-T c.-8G>A splice_region ALDH3A1 1 20410 4.89956E-5 10205 0 2.22987E-4
17-19648970-C-T c.-220G>A 5_prime_UTR_premature_start_codon_gain ALDH3A1 2 1692 0.00118203 846 0 1.91022E-4
17-19651282-C-T c.-39G>A 5_prime_UTR_premature_start_codon_gain ALDH3A1 1 19928 5.01806E-5 9964 0 NA
17-19651285-G-A c.-42C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 27 20266 0.00133228 10133 0 8.92743E-4
17-19651321-G-A c.-78C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 2 27324 7.31957E-5 13662 0 3.1841E-5
17-19651346-G-A c.-103C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 1 32832 3.04581E-5 16416 0 NA
17-19651509-G-A c.-266C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 30 54252 5.52975E-4 27126 0 9.56267E-5
17-19651565-G-C c.-6+7C>G splice_region ALDH3A1 10 55222 1.81087E-4 27611 0 2.55076E-4
17-19651565-G-T c.-6+7C>A splice_region ALDH3A1 1 55222 1.81087E-5 27611 0 2.04061E-4
17-19651567-A-T c.-6+5T>A splice_region ALDH3A1 1 55236 1.81041E-5 27618 0 NA
17-19651570-AC-A c.-6+1delG splice_donor ALDH3A1 1 55236 1.81041E-5 27618 0 NA
17-19651572-C-G c.-6G>C splice_region ALDH3A1 1 55258 1.80969E-5 27629 0 NA
17-19651591-G-A c.-25C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 44 55298 7.95689E-4 27649 0 9.23508E-4
17-19651593-T-C c.-27A>G 5_prime_UTR_premature_start_codon_gain ALDH3A1 1 55302 1.80825E-5 27651 0 NA
17-19651612-G-A c.-46C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 2 55332 3.61454E-5 27666 0 3.84576E-5
17-19651632-G-A c.-66C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 2 55348 3.6135E-5 27674 0 1.04225E-4
17-19651654-G-A c.-88C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 5 55350 9.03342E-5 27675 0 6.37186E-5
17-19651693-G-A c.-127C>T 5_prime_UTR_premature_start_codon_gain ALDH3A1 12 55332 2.16873E-4 27666 0 9.85239E-5