Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-19551890-C-T c.-395C>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 1 2050 4.87805E-4 1025 0 NA
17-19551957-C-T c.-328C>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 1 11890 8.41043E-5 5945 0 NA
17-19552075-G-T c.-210G>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 1 27666 3.61454E-5 13833 0 NA
17-19552155-C-T c.-130C>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 3 42578 7.04589E-5 21289 0 3.18451E-5
17-19552164-G-A c.-38+8G>A splice_region ALDH3A2 1 43722 2.28718E-5 21861 0 NA
17-19552166-C-T c.-119C>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 1 43836 2.28123E-5 21918 0 NA
17-19552188-G-A c.-69G>A splice_region ALDH3A2 4 47848 8.35981E-5 23924 0 6.37146E-5
17-19552242-C-T c.-37-6C>T splice_region ALDH3A2 2 60912 3.28343E-5 30456 0 6.33746E-6
17-19552259-C-T c.-26C>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 1 64450 1.55159E-5 32225 0 NA
17-19552270-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 1 67048 1.49147E-5 33524 0 3.18512E-5
17-19552274-A-G c.-9-2A>G splice_acceptor ALDH3A2 3 67696 4.43158E-5 33848 0 1.27462E-4
17-19552287-G-A p.Met1? start_lost ALDH3A2 1 69438 1.44013E-5 34719 0 NA
17-19552293-C-T p.Leu3Leu synonymous ALDH3A2 1 69714 1.43443E-5 34857 0 NA
17-19552296-A-G p.Glu4Glu synonymous ALDH3A2 2 70052 2.85502E-5 35026 0 NA
17-19552298-T-A p.Val5Asp missense ALDH3A2 1 70070 1.42714E-5 35035 0 NA
17-19552301-G-C p.Arg6Pro missense ALDH3A2 3 70204 4.27326E-5 35102 0 3.27439E-5
17-19552304-G-A p.Arg7Gln missense ALDH3A2 1 70078 1.42698E-5 35039 0 1.02694E-5
17-19552312-C-G p.Gln10Glu missense ALDH3A2 238 69860 0.00340681 34930 1 0.00864262
17-19552321-C-T c.-60C>T 5_prime_UTR_premature_start_codon_gain ALDH3A2 1 70888 1.41068E-5 35444 0 5.11383E-6
17-19552321-C-A p.Leu13Met missense ALDH3A2 1 70888 1.41068E-5 35444 0 5.11383E-6
17-19552334-C-T p.Ser17Leu missense ALDH3A2 1 71330 1.40193E-5 35665 0 6.37511E-5
17-19552349-T-C p.Phe22Ser missense ALDH3A2 1 72914 1.37148E-5 36457 0 2.31145E-4
17-19552352-G-C p.Arg23Pro missense ALDH3A2 1 73092 1.36814E-5 36546 0 NA
17-19552368-G-C p.Glu28Asp missense ALDH3A2 1 73624 1.35825E-5 36812 0 NA
17-19552370-C-T p.Ala29Val missense ALDH3A2 3 73108 4.10352E-5 36554 0 3.37541E-5
17-19552371-C-G p.Ala29Ala synonymous ALDH3A2 5 73640 6.78979E-5 36820 0 6.68539E-5
17-19552393-C-A p.Arg37Ser missense ALDH3A2 2 74346 2.69012E-5 37173 0 3.43312E-5
17-19552398-G-A p.Glu38Glu synonymous ALDH3A2 1 74906 1.33501E-5 37453 0 5.14017E-6
17-19552398-G-C p.Glu38Asp missense ALDH3A2 1 74906 1.33501E-5 37453 0 NA
17-19552403-A-G p.Asp40Gly missense ALDH3A2 86 75134 0.00114462 37567 0 0.00204708
17-19552409-T-C p.Leu42Pro missense ALDH3A2 1 75178 1.33018E-5 37589 0 NA
17-19552412-C-T p.Thr43Met missense ALDH3A2 14 75036 1.86577E-4 37518 2 0.00153689
17-19552413-G-A p.Thr43Thr synonymous ALDH3A2 1 75098 1.33159E-5 37549 0 2.15924E-5
17-19552431-G-A p.Leu49Leu synonymous ALDH3A2 1 74996 1.3334E-5 37498 0 NA
17-19554855-A-G c.154-5A>G splice_region ALDH3A2 7 83114 8.42217E-5 41557 0 3.18274E-5
17-19554872-G-C p.Val56Leu missense ALDH3A2 1 83254 1.20114E-5 41627 0 6.37105E-5
17-19554890-A-G p.Ile62Val missense ALDH3A2 1 83318 1.20022E-5 41659 0 1.19299E-5
17-19554896-G-A p.Val64Ile missense ALDH3A2 1 83338 1.19993E-5 41669 0 3.97652E-6
17-19554901-T-C p.Leu65Leu synonymous ALDH3A2 1 83344 1.19985E-5 41672 0 3.1839E-5
17-19554909-T-C p.Ile68Thr missense ALDH3A2 5 83348 5.99894E-5 41674 0 3.9764E-6
17-19554912-A-G p.Asp69Gly missense ALDH3A2 1 83354 1.1997E-5 41677 0 3.97636E-6
17-19554925-G-A p.Glu73Glu synonymous ALDH3A2 1 83358 1.19964E-5 41679 0 NA
17-19554953-C-T p.Pro83Ser missense ALDH3A2 1 83366 1.19953E-5 41683 0 NA
17-19554958-TAAG-T p.Lys86del disruptive_inframe_deletion ALDH3A2 1 83360 1.19962E-5 41680 0 1.9882E-5
17-19554967-C-G p.Asn87Lys missense ALDH3A2 3 83366 3.59859E-5 41683 0 8.24008E-6
17-19554968-G-A p.Val88Met missense ALDH3A2 2 83368 2.399E-5 41684 0 6.25E-4
17-19554975-C-T p.Thr90Ile missense ALDH3A2 3 83364 3.59868E-5 41682 0 NA
17-19554977-A-G p.Met91Val missense ALDH3A2 1 83376 1.19939E-5 41688 0 3.97646E-6
17-19554982-G-T p.Leu92Leu synonymous ALDH3A2 3 83380 3.59799E-5 41690 0 8.2409E-6
17-19554989-G-T p.Ala95Ser missense ALDH3A2 1 83370 1.19947E-5 41685 0 3.97652E-6
17-19554991-C-T p.Ala95Ala synonymous ALDH3A2 2 83368 2.399E-5 41684 0 NA
17-19554993-A-G p.Tyr96Cys missense ALDH3A2 1 83376 1.19939E-5 41688 0 3.1837E-5
17-19555004-C-T p.Gln100* stop_gained ALDH3A2 1 83378 1.19936E-5 41689 0 NA
17-19555007-C-A p.Pro101Thr missense ALDH3A2 1 83374 1.19941E-5 41687 0 8.24239E-6
17-19555009-T-C p.Pro101Pro synonymous ALDH3A2 1 83370 1.19947E-5 41685 0 8.24253E-6
17-19555013-G-C p.Gly103Arg missense ALDH3A2 2 83372 2.39889E-5 41686 0 1.64848E-5
17-19555034-G-A p.Ala110Thr missense ALDH3A2 1 83344 1.19985E-5 41672 0 5.03525E-4
17-19555044-AC-A p.Phe115fs frameshift ALDH3A2 1 83332 1.20002E-5 41666 0 NA
17-19555045-C-T p.Tyr113Tyr synonymous ALDH3A2 4 83344 4.79939E-5 41672 0 1.19311E-5
17-19555048-C-T p.Pro114Pro synonymous ALDH3A2 3 83338 3.5998E-5 41669 0 7.95431E-6
17-19555048-CT-C p.Phe115fs frameshift ALDH3A2 1 83338 1.19993E-5 41669 0 NA
17-19555051-C-T p.Phe115Phe synonymous ALDH3A2 5 83324 6.00067E-5 41662 0 9.5511E-5
17-19555052-G-A p.Val116Ile missense ALDH3A2 4 83324 4.80054E-5 41662 0 7.15973E-5
17-19555054-T-C p.Val116Val synonymous ALDH3A2 2 83318 2.40044E-5 41659 0 NA
17-19555058-A-G p.Thr118Ala missense ALDH3A2 2 83308 2.40073E-5 41654 0 NA
17-19555075-A-G p.Ile123Met missense ALDH3A2 1 83272 1.20088E-5 41636 0 8.25805E-6
17-19555087-T-G p.Ala127Ala synonymous ALDH3A2 4 83246 4.80504E-5 41623 0 6.3678E-5
17-19555090-A-G p.Ala128Ala splice_region+synonymous ALDH3A2 3 83232 3.60438E-5 41616 0 3.97969E-6
17-19555097-G-A c.385+6G>A splice_region ALDH3A2 3 83166 3.60724E-5 41583 0 1.65333E-5
17-19555854-A-G c.386-6A>G splice_region ALDH3A2 1447 82974 0.0174392 41487 27 0.022468
17-19555876-A-T p.Ile134Ile synonymous ALDH3A2 1 83188 1.2021E-5 41594 0 3.97785E-6
17-19555891-G-A p.Leu139Leu synonymous ALDH3A2 22 83240 2.64296E-4 41620 0 0.00100705
17-19555905-C-G p.Ala144Gly missense ALDH3A2 1 83244 1.20129E-5 41622 0 NA
17-19555924-T-G p.Leu150Leu synonymous ALDH3A2 1 83236 1.2014E-5 41618 0 7.95463E-6
17-19555939-A-G p.Leu155Leu synonymous ALDH3A2 55 83234 6.60788E-4 41617 0 0.00151057
17-19555944-AG-A c.471+1delG splice_donor ALDH3A2 1 83224 1.20158E-5 41612 0 3.1835E-5
17-19555950-G-T c.471+5G>T splice_region ALDH3A2 1 83196 1.20198E-5 41598 0 0.00125
17-19559668-CT-C c.472-8delT splice_region ALDH3A2 3 83196 3.60594E-5 41598 0 3.98788E-6
17-19559707-T-G p.Val167Gly missense ALDH3A2 1 83402 1.19901E-5 41701 0 NA
17-19559718-A-G p.Thr171Ala missense ALDH3A2 1 83416 1.19881E-5 41708 0 3.97652E-6
17-19559720-G-A p.Thr171Thr synonymous ALDH3A2 1 83412 1.19887E-5 41706 0 1.59065E-5
17-19559725-T-C p.Leu173Pro missense ALDH3A2 3 83420 3.59626E-5 41710 0 8.2511E-6
17-19559736-C-T p.Arg177* stop_gained ALDH3A2 1 83410 1.1989E-5 41705 0 5.96483E-5
17-19559737-G-A p.Arg177Gln missense ALDH3A2 2 83414 2.39768E-5 41707 0 1.59246E-4
17-19559738-A-G p.Arg177Arg synonymous ALDH3A2 3 83410 3.59669E-5 41705 0 3.18451E-5
17-19559742-G-A p.Asp179Asn missense ALDH3A2 1 83412 1.19887E-5 41706 0 NA
17-19559758-C-T p.Thr184Met missense ALDH3A2 2 83408 2.39785E-5 41704 0 3.18492E-5
17-19559764-A-G p.Asn186Ser missense ALDH3A2 2 83414 2.39768E-5 41707 0 NA
17-19559767-C-G p.Thr187Ser missense ALDH3A2 2 83414 2.39768E-5 41707 0 NA
17-19559770-C-T p.Ala188Val missense ALDH3A2 470 83408 0.00563495 41704 3 0.0108308
17-19559771-G-A c.*167G>A splice_region ALDH3A2 19 83410 2.2779E-4 41705 0 0.00151057
17-19559799-G-A p.Ala198Thr missense ALDH3A2 1 83400 1.19904E-5 41700 0 3.18451E-5
17-19559804-G-T p.Lys199Asn missense ALDH3A2 1 83392 1.19916E-5 41696 0 NA
17-19559814-C-G p.Pro203Ala missense ALDH3A2 1 83402 1.19901E-5 41701 0 NA
17-19559827-A-C p.Glu207Ala missense ALDH3A2 2 83396 2.3982E-5 41698 0 NA
17-19559838-A-G p.Lys211Glu missense ALDH3A2 1 83380 1.19933E-5 41690 0 NA
17-19559846-A-G p.Pro213Pro synonymous ALDH3A2 9 83370 1.07953E-4 41685 0 8.9044E-5
17-19559849-T-G p.Cys214Trp missense ALDH3A2 1 83358 1.19964E-5 41679 0 NA
17-19559853-A-G p.Ile216Val missense ALDH3A2 4 83348 4.79916E-5 41674 0 3.75693E-5
17-19559864-T-C p.Asp219Asp synonymous ALDH3A2 1 83284 1.20071E-5 41642 0 3.99952E-6
17-19559866-G-C p.Cys220Ser missense ALDH3A2 3 83270 3.60274E-5 41635 0 6.36902E-5
17-19559868-G-A p.Asp221Asn missense ALDH3A2 2 83268 2.40188E-5 41634 0 1.01769E-5
17-19559877-A-G p.Ile224Val missense ALDH3A2 4 83210 4.80711E-5 41605 0 6.87146E-5
17-19559880-G-C p.Val225Leu missense ALDH3A2 1 83206 1.20184E-5 41603 0 NA
17-19559884-G-T p.Cys226Phe missense ALDH3A2 2 83176 2.40454E-5 41588 0 4.09863E-6
17-19561023-GAATTATA-G c.87-10_87-4delAATTATA splice_region ALDH3A2 1 82854 1.20694E-5 41427 0 NA
17-19561027-T-C c.87-7T>C splice_region ALDH3A2 2 82978 2.41028E-5 41489 0 NA
17-19561032-A-T c.87-2A>T splice_acceptor ALDH3A2 1 83118 1.20311E-5 41559 0 3.18735E-5
17-19561043-A-G p.Gly32Gly synonymous ALDH3A2 2 83242 2.40263E-5 41621 0 8.25314E-6
17-19561059-C-T p.Arg228Cys missense+splice_region ALDH3A2 1 83320 1.20019E-5 41660 0 1.59089E-5
17-19561060-G-A p.Arg228His missense+splice_region ALDH3A2 2 83328 2.40015E-5 41664 0 NA
17-19561066-C-T p.Thr230Ile missense ALDH3A2 1 83348 1.19979E-5 41674 0 NA
17-19561071-G-A p.Gly232Arg missense ALDH3A2 2 83360 2.39923E-5 41680 0 NA
17-19561072-G-GA p.Tyr234fs frameshift ALDH3A2 1 83360 1.19962E-5 41680 0 NA
17-19561075-A-G p.Lys233Arg missense ALDH3A2 1 83370 1.19947E-5 41685 0 NA
17-19561080-A-C p.Met235Leu missense ALDH3A2 3 83376 3.59816E-5 41688 0 3.97703E-6
17-19561095-AC-A p.Cys241fs frameshift ALDH3A2 1 83384 1.19927E-5 41692 0 NA
17-19561107-C-T p.Pro244Ser missense ALDH3A2 1 83370 1.19947E-5 41685 0 NA
17-19561123-G-C p.Cys249Ser missense ALDH3A2 1 83346 1.19982E-5 41673 0 8.25505E-6
17-19561135-TCCAAAA-T p.Gln254_Asn255del disruptive_inframe_deletion ALDH3A2 2 83320 2.40038E-5 41660 0 NA
17-19561143-C-CA p.Ile257fs frameshift ALDH3A2 1 83310 1.20034E-5 41655 0 NA
17-19561146-A-G p.Ile257Val missense ALDH3A2 1 83304 1.20042E-5 41652 0 NA
17-19561151-A-G p.Val258Val synonymous ALDH3A2 3 83286 3.60205E-5 41643 0 6.3674E-5
17-19561167-A-G p.Thr264Ala missense ALDH3A2 2 83200 2.40385E-5 41600 0 8.67483E-5
17-19561169-A-G p.Thr264Thr synonymous ALDH3A2 1 83192 1.20204E-5 41596 0 3.98251E-6
17-19561175-G-C p.Lys266Asn missense+splice_region ALDH3A2 4 83142 4.81105E-5 41571 0 8.92236E-6
17-19563018-C-G n.127+6C>G splice_region ALDH3A2 14 16 0.875 8 6 0.571346
17-19564450-G-A p.Gly270Glu missense ALDH3A2 4 83150 4.81058E-5 41575 0 2.79524E-5
17-19564452-G-A p.Glu271Lys missense ALDH3A2 1 83152 1.20262E-5 41576 0 4.17955E-5
17-19564471-CTGATTATGAAAGGA-C p.Asp278fs frameshift ALDH3A2 2 83266 2.40194E-5 41633 0 NA
17-19564475-T-G p.Asp278Glu missense ALDH3A2 2 83282 2.40148E-5 41641 0 NA
17-19564511-G-A p.Arg290Arg synonymous ALDH3A2 1 83346 1.19982E-5 41673 0 2.47361E-5
17-19564515-C-G p.Leu292Val missense ALDH3A2 1 83342 1.19988E-5 41671 0 3.18492E-5
17-19564516-T-G p.Leu292Arg missense ALDH3A2 1 83344 1.19985E-5 41672 0 NA
17-19564543-C-G p.Ala301Gly missense ALDH3A2 1 83340 1.1999E-5 41670 0 NA
17-19564557-A-G p.Thr306Ala missense ALDH3A2 1 83338 1.19993E-5 41669 0 8.2496E-6
17-19564563-G-A p.Glu308Lys missense ALDH3A2 2 83324 2.40027E-5 41662 0 NA
17-19564572-C-T p.Arg311Cys missense ALDH3A2 1 83318 1.20022E-5 41659 0 9.0801E-5
17-19564573-G-A p.Arg311His missense ALDH3A2 1 83310 1.20034E-5 41655 0 8.25505E-6
17-19564576-A-G p.Tyr312Cys missense ALDH3A2 1 83300 1.20048E-5 41650 0 NA
17-19564577-C-T p.Tyr312Tyr synonymous ALDH3A2 1 83294 1.20057E-5 41647 0 9.55231E-5
17-19564578-A-G p.Ile313Val missense ALDH3A2 1 83300 1.20048E-5 41650 0 3.1837E-5
17-19564581-G-C p.Ala314Pro missense+splice_region ALDH3A2 1 83286 1.20068E-5 41643 0 3.18492E-5
17-19564581-G-GCCCCAACA p.Gly145fs frameshift ALDH3A2 7 83286 8.40477E-5 41643 3 NA
17-19564581-G-GCCCCAACAGTACTTACCGATGTTGATCCTAAAACCAA p.Gly145fs frameshift ALDH3A2 1 83286 1.20068E-5 41643 0 NA
17-19564597-C-G p.Pro150Arg missense ALDH3A2 4 83212 4.807E-5 41606 0 6.36902E-5
17-19564604-T-A p.Pro152Pro synonymous ALDH3A2 1 83172 1.20233E-5 41586 0 NA
17-19564612-G-T p.Arg155Ile missense ALDH3A2 1 83128 1.20296E-5 41564 0 NA
17-19564627-G-GT p.Cys162fs frameshift ALDH3A2 1 82994 1.20491E-5 41497 0 NA
17-19564634-C-G p.Cys162Trp missense ALDH3A2 15976 81716 0.195506 40858 1523 0.240416
17-19566638-C-A c.941-8C>A splice_region ALDH3A2 1 83150 1.20265E-5 41575 0 NA
17-19566648-C-T p.Pro315Ser missense+splice_region ALDH3A2 2 83220 2.40327E-5 41610 0 1.89663E-4
17-19566652-C-T p.Thr316Ile missense ALDH3A2 6 83228 7.20911E-5 41614 0 9.55536E-5
17-19566653-A-G p.Thr316Thr synonymous ALDH3A2 2 83236 2.40281E-5 41618 0 5.03525E-4
17-19566663-G-A p.Asp320Asn missense ALDH3A2 1 83254 1.20114E-5 41627 0 3.97772E-6
17-19566665-T-C p.Asp320Asp synonymous ALDH3A2 1 83254 1.20114E-5 41627 0 NA
17-19566682-AG-A p.Val327fs frameshift ALDH3A2 2 83288 2.40131E-5 41644 0 3.18451E-5
17-19566683-G-C p.Lys326Asn missense ALDH3A2 16 83290 1.921E-4 41645 0 1.63069E-4
17-19566694-A-G p.Glu330Gly missense ALDH3A2 30 83284 3.60213E-4 41642 0 5.03525E-4
17-19566699-A-C p.Ile332Leu missense ALDH3A2 1 83292 1.2006E-5 41646 0 NA
17-19566706-G-T p.Gly334Val missense ALDH3A2 1 83292 1.2006E-5 41646 0 8.23886E-6
17-19566720-A-G p.Ile339Val missense ALDH3A2 2 83290 2.40125E-5 41645 0 3.1837E-5
17-19566726-C-T p.Pro341Ser missense ALDH3A2 2 83274 2.40171E-5 41637 0 NA
17-19566733-A-G p.Lys343Arg missense ALDH3A2 2 83274 2.40171E-5 41637 0 8.24008E-6
17-19566742-A-T p.Asp346Val missense ALDH3A2 1 83252 1.20117E-5 41626 0 3.97782E-6
17-19566753-A-C p.Asn350His missense ALDH3A2 12 83228 1.44182E-4 41614 0 3.1837E-4
17-19566756-T-C p.Phe351Leu missense ALDH3A2 2 83210 2.40356E-5 41605 0 NA
17-19566768-C-T p.Arg355Cys missense ALDH3A2 3 83182 3.60655E-5 41591 0 7.95754E-6
17-19566768-C-G p.Arg355Gly missense ALDH3A2 1 83182 1.20218E-5 41591 0 NA
17-19566769-G-A p.Arg355His missense ALDH3A2 3 83184 3.60646E-5 41592 0 8.24579E-6
17-19566770-T-C p.Arg355Arg synonymous ALDH3A2 1 83184 1.20215E-5 41592 0 8.24579E-6
17-19566782-G-T p.Leu359Leu synonymous ALDH3A2 4 83122 4.8122E-5 41561 0 8.24946E-6
17-19566799-C-T p.Ser365Leu missense ALDH3A2 1 83080 1.20366E-5 41540 0 5.03525E-4
17-19566800-G-A p.Ser365Ser synonymous ALDH3A2 3 83072 3.61133E-5 41536 0 3.18512E-5
17-19566802-A-G p.His366Arg missense ALDH3A2 1 83068 1.20383E-5 41534 0 NA
17-19566812-G-GCTCATCAAACGGATGATTGATGAGACATCCA c.1107_1107+1insCTCATCAAACGGATGATTGATGAGACATCCA splice_donor ALDH3A2 2 83054 2.40807E-5 41527 0 NA
17-19566816-A-G c.1107+4A>G splice_region ALDH3A2 1 83036 1.2043E-5 41518 0 8.2672E-6
17-19568258-C-T c.1108-3C>T splice_region ALDH3A2 17 83082 2.04617E-4 41541 0 6.2097E-4
17-19568260-G-C c.1108-1G>C splice_acceptor ALDH3A2 1 83120 1.20308E-5 41560 0 3.98E-6
17-19568263-C-T p.Leu370Leu splice_region+synonymous ALDH3A2 7 83162 8.41731E-5 41581 0 1.59184E-5
17-19568293-TG-T p.Gly381fs frameshift ALDH3A2 1 83328 1.20008E-5 41664 0 NA
17-19568296-A-G p.Gly381Gly synonymous ALDH3A2 1 83328 1.20008E-5 41664 0 NA
17-19568300-G-A p.Val383Ile missense ALDH3A2 2 83334 2.39998E-5 41667 0 3.18492E-5
17-19568310-A-G p.Asn386Ser missense ALDH3A2 1 83340 1.1999E-5 41670 0 3.18593E-5
17-19568314-C-T p.Asp387Asp synonymous ALDH3A2 2 83338 2.39987E-5 41669 0 3.97668E-5
17-19568324-C-T p.His391Tyr missense ALDH3A2 1 83340 1.1999E-5 41670 0 3.18552E-5
17-19568327-T-G p.Phe392Val missense ALDH3A2 1 83344 1.19985E-5 41672 0 NA
17-19568331-C-T p.Thr393Met missense ALDH3A2 1 83346 1.19982E-5 41673 0 1.64745E-5
17-19568332-G-A p.Thr393Thr synonymous ALDH3A2 2 83346 2.39964E-5 41673 0 4.11868E-5
17-19568341-T-G p.Ser396Ser synonymous ALDH3A2 21 83346 2.51962E-4 41673 0 3.54224E-4
17-19568342-T-C p.Phe397Leu missense ALDH3A2 1 83348 1.19979E-5 41674 0 NA
17-19568351-G-A p.Gly400Arg missense ALDH3A2 1 83338 1.19993E-5 41669 0 NA
17-19575059-C-T p.Thr47Met missense ALDH3A2 2 83274 2.40171E-5 41637 0 1.98845E-5
17-19575060-G-A p.Gly412Arg missense ALDH3A2 2 83272 2.40177E-5 41636 0 1.64737E-5
17-19575069-A-G p.Ser415Gly missense ALDH3A2 1 83314 1.20028E-5 41657 0 NA
17-19575080-T-C p.Leu54Pro missense ALDH3A2 19 83338 2.27987E-4 41669 0 5.03525E-4
17-19575086-T-G p.Leu56Arg missense ALDH3A2 5 83342 5.99938E-5 41671 0 2.38603E-5
17-19575093-C-T p.Arg423Cys missense ALDH3A2 2 83336 2.39992E-5 41668 0 2.47121E-5
17-19575094-G-A p.Arg423His missense ALDH3A2 1 83344 1.19985E-5 41672 0 3.18431E-5
17-19575096-C-T p.Pro424Ser missense ALDH3A2 397 83346 0.00476328 41673 3 0.00474553
17-19575097-C-T p.Pro424Leu missense ALDH3A2 2 83350 2.39952E-5 41675 0 3.97668E-6
17-19575100-G-T p.Cys425Phe missense ALDH3A2 2 83352 2.39946E-5 41676 0 NA
17-19575116-A-G p.Leu430Leu synonymous ALDH3A2 1 83354 1.1997E-5 41677 0 NA
17-19575117-AAG-A p.Glu433fs frameshift ALDH3A2 6 83358 7.19787E-5 41679 0 4.37428E-5
17-19575131-T-TAACAA p.Leu438fs frameshift ALDH3A2 2 83360 2.39923E-5 41680 0 NA
17-19575157-G-A p.Ser444Asn missense ALDH3A2 1 83368 1.1995E-5 41684 0 3.18451E-5
17-19575163-C-T p.Ser446Leu missense ALDH3A2 1 83370 1.19947E-5 41685 0 4.11834E-5
17-19575198-C-T p.Arg458Trp missense ALDH3A2 1 83350 1.19976E-5 41675 0 8.23642E-6
17-19575199-G-A p.Arg458Gln missense ALDH3A2 4 83348 4.79916E-5 41674 0 2.96511E-4
17-19575207-A-G p.Lys461Glu missense ALDH3A2 1 83350 1.19976E-5 41675 0 8.23642E-6
17-19575210-G-A p.Glu462Lys missense ALDH3A2 1 83336 1.19996E-5 41668 0 3.977E-6
17-19575216-C-T p.Leu464Phe missense ALDH3A2 1 83320 1.20019E-5 41660 0 NA
17-19575218-C-T p.Leu464Leu synonymous ALDH3A2 8 83312 9.60246E-5 41656 0 6.58924E-5
17-19575219-G-A p.Gly465Ser missense ALDH3A2 1 83302 1.20045E-5 41651 0 6.37146E-5
17-19575224-C-T p.Leu466Leu synonymous ALDH3A2 89 83292 0.00106853 41646 1 0.0105847
17-19575238-T-C p.Phe471Ser missense ALDH3A2 13 83196 1.56258E-4 41598 0 6.25782E-4
17-19575242-G-C p.Leu472Leu synonymous ALDH3A2 2 83178 2.40448E-5 41589 0 NA
17-19575249-G-A p.Val475Ile missense ALDH3A2 1 83164 1.20244E-5 41582 0 NA
17-19575254-C-T p.Ala476Ala synonymous ALDH3A2 2 83088 2.40709E-5 41544 0 4.94185E-5
17-19575268-A-G p.Lys481Arg missense+splice_region ALDH3A2 1 83042 1.20421E-5 41521 0 NA
17-19576471-A-G p.Gln484Arg missense ALDH3A2 6 83332 7.20012E-5 41666 0 0.00100705
17-19576517-C-T p.Thr65Ile missense ALDH3A2 1 83356 1.19967E-5 41678 0 8.23669E-6
17-19576519-G-C c.157-1G>C splice_acceptor ALDH3A2 2 83354 2.3994E-5 41677 0 3.97621E-6
17-19576522-T-C p.Leu501Pro missense ALDH3A2 1 83352 1.19973E-5 41676 0 8.23669E-6
17-19576524-C-T p.Arg502Cys missense ALDH3A2 3 83350 3.59928E-5 41675 0 4.94201E-5
17-19576533-A-G p.Ser505Gly missense ALDH3A2 6 83348 7.19873E-5 41674 0 0.0020141
17-19576541-GA-G p.Arg508fs frameshift ALDH3A2 1 83356 1.19967E-5 41678 0 7.95248E-6
17-19576541-G-C p.Gln507His missense ALDH3A2 1 83356 1.19967E-5 41678 0 8.23778E-6
17-19576544-A-G p.Asp74Gly missense ALDH3A2 1 83348 1.19979E-5 41674 0 1.98812E-5
17-19576553-A-G p.Gln77Arg missense ALDH3A2 2 83336 2.39992E-5 41668 0 NA
17-19576566-C-T p.Pro81Pro synonymous ALDH3A2 1 83318 1.20022E-5 41659 0 NA
17-19576591-A-G c.*41+3A>G splice_region ALDH3A2 1 83176 1.20227E-5 41588 0 3.97969E-6
17-19576592-G-A c.*41+4G>A splice_region ALDH3A2 1 83138 1.20282E-5 41569 0 NA
17-19578819-G-A c.*11+7G>A splice_region ALDH3A2 1 82600 1.21065E-5 41300 0 3.18593E-5
17-19578867-C-T c.1444-4C>T splice_region ALDH3A2 1 83072 1.20378E-5 41536 0 6.41067E-5
17-19578873-A-T c.*12-2A>T splice_acceptor ALDH3A2 45821 81868 0.559694 40934 13050 0.619989
17-19578877-T-C p.Tyr484His missense ALDH3A2 3 83162 3.60742E-5 41581 0 1.64742E-5
17-19578892-A-C p.Asp83Ala missense ALDH3A2 1 83196 1.20198E-5 41598 0 NA
17-19578900-C-A p.Gln86Lys missense ALDH3A2 1 83208 1.20181E-5 41604 0 NA
17-19578909-A-G p.Ser89Gly missense ALDH3A2 2 83190 2.40414E-5 41595 0 NA
17-19578921-G-A p.Glu93Lys missense ALDH3A2 847 83078 0.0101952 41539 8 0.008125
17-19578922-A-G p.Glu93Gly missense ALDH3A2 1 83130 1.20294E-5 41565 0 7.95532E-6
17-19578923-A-G p.Glu93Glu synonymous ALDH3A2 21 83124 2.52635E-4 41562 0 7.96077E-4
17-19578925-TA-T p.Leu94fs frameshift ALDH3A2 2 83110 2.40645E-5 41555 0 1.98938E-5
17-19578936-T-C p.Ter98Glnext*? stop_lost ALDH3A2 3 83046 3.61246E-5 41523 0 1.59138E-5