Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-67776152-C-T c.-12C>T 5_prime_UTR_premature_start_codon_gain ALDH3B1 2 2962 6.75219E-4 1481 0 0.00137109
11-67777866-G-C c.-2+4G>C splice_region ALDH3B1 13 2910 0.00446735 1455 0 0.00146506
11-67782788-G-A p.Thr7Thr synonymous ALDH3B1 1 77334 1.29309E-5 38667 0 1.27405E-4
11-67782792-C-T p.Arg9Trp missense ALDH3B1 10 77714 1.28677E-4 38857 0 1.50648E-4
11-67782792-C-A p.Arg9Arg synonymous ALDH3B1 24 77714 3.08825E-4 38857 1 0.00241036
11-67782793-G-A p.Arg9Gln missense ALDH3B1 3 77918 3.8502E-5 38959 0 1.45645E-4
11-67782795-C-T p.Arg10* stop_gained ALDH3B1 15 78090 1.92086E-4 39045 0 0.00159405
11-67782807-G-C p.Ala14Pro missense ALDH3B1 1 79222 1.26228E-5 39611 0 NA
11-67782815-C-T p.His16His synonymous ALDH3B1 1 79566 1.25682E-5 39783 0 1.59327E-4
11-67782817-C-T p.Ala17Val missense ALDH3B1 3 79574 3.77008E-5 39787 0 1.05955E-4
11-67782818-G-A p.Ala17Ala synonymous ALDH3B1 2 79666 2.51048E-5 39833 0 6.65079E-6
11-67782823-G-A p.Arg19His missense ALDH3B1 6 79714 7.52691E-5 39857 0 3.18715E-5
11-67782824-C-CA p.Thr20fs frameshift ALDH3B1 1 79822 1.25279E-5 39911 0 NA
11-67782827-G-A p.Thr20Thr synonymous ALDH3B1 2122 79742 0.0266108 39871 88 0.0769543
11-67782828-C-T p.Arg21Trp missense ALDH3B1 1 79942 1.25091E-5 39971 0 1.6142E-4
11-67782829-G-A p.Arg21Gln missense ALDH3B1 2 79988 2.50038E-5 39994 0 2.35849E-4
11-67782838-A-G p.Glu24Gly missense ALDH3B1 1 80224 1.24651E-5 40112 0 NA
11-67782842-C-CTAAGGTAGAGGTGTCTGCAAGCCCCTGTGGGTG p.Phe25_Arg26insTerGlyArgGlyValCysLysProLeuTrpVal stop_gained ALDH3B1 2 80254 2.49209E-5 40127 1 NA
11-67782843-C-T p.Arg26Trp missense ALDH3B1 6 80254 7.47626E-5 40127 0 2.70599E-4
11-67782844-G-C p.Arg26Pro missense ALDH3B1 1 80244 1.2462E-5 40122 0 NA
11-67782848-T-C p.Ala27Ala synonymous ALDH3B1 1 80288 1.24552E-5 40144 0 3.18695E-5
11-67782850-C-T p.Ala28Val missense ALDH3B1 1 80280 1.24564E-5 40140 0 6.40861E-5
11-67782855-C-T p.Leu30Phe missense ALDH3B1 1 80318 1.24505E-5 40159 0 NA
11-67782857-C-T p.Leu30Leu synonymous ALDH3B1 1232 80274 0.0153474 40137 23 0.0484771
11-67782858-C-T p.Gln31* stop_gained ALDH3B1 3 80384 3.73209E-5 40192 0 NA
11-67782859-A-G p.Gln31Arg missense ALDH3B1 1 80374 1.24418E-5 40187 0 1.26229E-5
11-67782859-A-C p.Gln31Pro missense ALDH3B1 2 80374 2.48837E-5 40187 0 6.31146E-6
11-67782870-C-T p.Arg35Cys missense ALDH3B1 91 80406 0.00113176 40203 1 0.00410256
11-67782879-C-A p.Gln38Lys missense ALDH3B1 1 80420 1.24347E-5 40210 0 NA
11-67782894-C-T p.Leu43Phe missense ALDH3B1 1 80224 1.24651E-5 40112 0 NA
11-67782902-C-A p.His45Gln missense ALDH3B1 2 79904 2.503E-5 39952 0 NA
11-67782904-A-T p.Asp46Val missense ALDH3B1 1 79776 1.25351E-5 39888 0 NA
11-67782905-C-T p.Asp46Asp synonymous ALDH3B1 1 79766 1.25367E-5 39883 0 3.18674E-5
11-67782906-G-A p.Ala47Thr missense ALDH3B1 2 79678 2.5101E-5 39839 0 1.0445E-4
11-67782929-G-GCCA c.162_162+1insCCA splice_donor ALDH3B1 1 78926 1.26701E-5 39463 0 NA
11-67782930-G-C c.162+1G>C splice_donor ALDH3B1 2 78848 2.53653E-5 39424 0 NA
11-67782934-G-T c.162+5G>T splice_region ALDH3B1 1 78598 1.2723E-5 39299 0 1.14102E-5
11-67785997-T-C p.Ser55Pro missense+splice_region ALDH3B1 1 81254 1.23071E-5 40627 0 3.19183E-5
11-67785999-A-G p.Ser55Ser splice_region+synonymous ALDH3B1 1 81244 1.23086E-5 40622 0 NA
11-67786002-C-G p.Ala56Ala synonymous ALDH3B1 2 81288 2.46039E-5 40644 0 1.10278E-5
11-67786005-C-T p.Phe57Phe synonymous ALDH3B1 1 81290 1.23016E-5 40645 0 3.90472E-5
11-67786006-G-A p.Glu58Lys missense ALDH3B1 9 81248 1.10772E-4 40624 0 4.25631E-4
11-67786011-G-A p.Ser59Ser synonymous ALDH3B1 1 81282 1.23028E-5 40641 0 3.72745E-5
11-67786030-A-G p.Ile66Val missense ALDH3B1 1 81376 1.22886E-5 40688 0 NA
11-67786038-G-A p.Gln68Gln synonymous ALDH3B1 1 81372 1.22892E-5 40686 0 NA
11-67786045-G-A p.Val71Ile missense ALDH3B1 2 81328 2.45918E-5 40664 0 NA
11-67786050-C-A p.Thr72Thr synonymous ALDH3B1 1 81336 1.22947E-5 40668 0 NA
11-67786055-C-A p.Ala74Asp missense ALDH3B1 1 81290 1.23016E-5 40645 0 NA
11-67786056-C-T p.Ala74Ala synonymous ALDH3B1 1 81268 1.2305E-5 40634 0 NA
11-67786061-G-A p.Arg76Lys missense ALDH3B1 20 81234 2.46202E-4 40617 0 0.494898
11-67786061-G-C p.Arg76Thr missense ALDH3B1 1 81234 1.23101E-5 40617 0 0.0102041
11-67786064-A-AC c.231dupC splice_acceptor ALDH3B1 81151 81160 0.999889 40580 40575 1.0
11-67786065-C-CT c.231+1dupT splice_acceptor ALDH3B1 1 81252 1.23074E-5 40626 0 0.0108696
11-67786067-C-G c.232-1C>G splice_acceptor ALDH3B1 1 81194 1.23162E-5 40597 0 5.12957E-6
11-67786068-C-T p.Arg78Trp missense+splice_region ALDH3B1 4 81180 4.92732E-5 40590 0 2.56056E-5
11-67786069-G-A p.Arg78Gln missense+splice_region ALDH3B1 1 81222 1.23119E-5 40611 0 2.04918E-5
11-67786078-T-A p.Met81Lys missense ALDH3B1 4 81214 4.92526E-5 40607 0 2.5565E-5
11-67786080-A-G p.Lys82Glu missense ALDH3B1 2 81200 2.46305E-5 40600 0 0.00151515
11-67786085-C-T p.Asp83Asp synonymous ALDH3B1 1 81150 1.23229E-5 40575 0 3.71574E-5
11-67786087-A-G p.Glu84Gly missense ALDH3B1 1 81116 1.2328E-5 40558 0 5.30594E-6
11-67786090-G-A p.Arg85His missense ALDH3B1 2 81082 2.46664E-5 40541 0 3.21895E-5
11-67786090-G-C p.Arg85Pro missense ALDH3B1 3 81082 3.69996E-5 40541 0 NA
11-67786103-C-T p.Asn89Asn synonymous ALDH3B1 1 81014 1.23435E-5 40507 0 6.37471E-5
11-67786111-G-A c.270+5G>A splice_region ALDH3B1 5 80880 6.182E-5 40440 0 NA
11-67786113-C-T c.270+7C>T splice_region ALDH3B1 77 80794 9.53041E-4 40397 1 0.00448367
11-67786114-G-A c.270+8G>A splice_region ALDH3B1 4 80832 4.94854E-5 40416 1 7.23066E-5
11-67786234-C-T c.271-8C>T splice_region ALDH3B1 2 81024 2.4684E-5 40512 0 6.37105E-5
11-67786246-C-T p.Thr92Met missense ALDH3B1 1 81080 1.23335E-5 40540 0 NA
11-67786247-G-A p.Thr92Thr synonymous ALDH3B1 4 81058 4.93474E-5 40529 0 5.08182E-5
11-67786259-C-T p.Ser96Ser synonymous ALDH3B1 829 81182 0.0102116 40591 32 0.0234773
11-67786260-G-A p.Ala97Thr missense ALDH3B1 1 81184 1.23177E-5 40592 0 3.18512E-5
11-67786262-C-T p.Ala97Ala synonymous ALDH3B1 2 81212 2.46269E-5 40606 0 NA
11-67786269-C-T p.Arg100Trp missense ALDH3B1 2 81230 2.46214E-5 40615 0 1.44998E-4
11-67786270-G-A p.Arg100Gln missense ALDH3B1 2 81232 2.46208E-5 40616 0 9.62649E-5
11-67786273-A-G p.Lys101Arg missense ALDH3B1 10 81274 1.23041E-4 40637 0 1.90168E-4
11-67786287-C-T p.Leu106Leu synonymous ALDH3B1 1 81290 1.23016E-5 40645 0 NA
11-67786303-C-T p.Ala111Val missense ALDH3B1 1 81230 1.23107E-5 40615 0 0.00511247
11-67786304-G-A p.Ala111Ala synonymous ALDH3B1 1 81214 1.23131E-5 40607 0 4.47668E-5
11-67786318-C-A p.Pro116Gln missense ALDH3B1 1 81252 1.23074E-5 40626 0 NA
11-67786319-G-A p.Pro116Pro synonymous ALDH3B1 3 81244 3.69258E-5 40622 0 5.84659E-6
11-67786328-G-A p.Leu119Leu synonymous ALDH3B1 2 81254 2.46142E-5 40627 0 5.89859E-6
11-67786330-C-T p.Thr120Met missense ALDH3B1 8 81228 9.84882E-5 40614 0 6.25E-4
11-67786343-C-A p.Leu124Leu synonymous ALDH3B1 1 81200 1.23153E-5 40600 0 0.0025641
11-67786343-C-T p.Leu124Leu synonymous ALDH3B1 2 81200 2.46305E-5 40600 0 1.83842E-5
11-67786345-T-C p.Val125Ala missense ALDH3B1 1 81204 1.23147E-5 40602 0 4.6799E-5
11-67786353-C-T p.Leu128Phe missense ALDH3B1 1 81170 1.23198E-5 40585 0 6.27392E-6
11-67786355-C-T p.Leu128Leu synonymous ALDH3B1 190 81118 0.00234227 40559 0 0.00344895
11-67786356-G-A p.Ala129Thr missense ALDH3B1 2 81090 2.4664E-5 40545 0 2.52886E-5
11-67786358-T-C p.Ala129Ala synonymous ALDH3B1 1 81118 1.23277E-5 40559 0 NA
11-67786362-G-C p.Gly131Arg missense+splice_region ALDH3B1 4 81108 4.9317E-5 40554 0 3.18512E-5
11-67786368-A-G c.391+6A>G splice_region ALDH3B1 1 81062 1.23362E-5 40531 0 NA
11-67786532-C-T n.178-3C>T splice_region ALDH3B1 7 76688 9.12789E-5 38344 0 3.18532E-5
11-67786632-C-G c.392-7C>G splice_region ALDH3B1 5 81746 6.11651E-5 40873 0 3.42654E-5
11-67786646-T-C p.Cys133Cys synonymous ALDH3B1 2 81962 2.44016E-5 40981 0 2.15433E-4
11-67786650-G-A p.Val135Met missense ALDH3B1 13 82010 1.58517E-4 41005 0 3.50274E-4
11-67786657-A-T p.Lys137Met missense ALDH3B1 1 82084 1.21826E-5 41042 0 NA
11-67786664-G-A p.Ser139Ser synonymous ALDH3B1 8 82122 9.7416E-5 41061 0 3.83488E-4
11-67786670-T-G p.Ile141Met missense ALDH3B1 1 82124 1.21767E-5 41062 0 NA
11-67786670-T-C p.Ile141Ile synonymous ALDH3B1 1 82124 1.21767E-5 41062 0 NA
11-67786679-C-T p.Asn144Asn synonymous ALDH3B1 4 82164 4.86831E-5 41082 0 0.00302115
11-67786680-G-A p.Val145Ile missense ALDH3B1 4 82158 4.86867E-5 41079 0 6.25E-4
11-67786682-C-T p.Val145Val synonymous ALDH3B1 2 82154 2.43445E-5 41077 0 3.18735E-5
11-67786683-G-A p.Glu146Lys missense ALDH3B1 1 82158 1.21717E-5 41079 0 2.79205E-5
11-67786683-G-C p.Glu146Gln missense ALDH3B1 1 82158 1.21717E-5 41079 0 NA
11-67786697-C-T p.Ala150Ala synonymous ALDH3B1 10 82130 1.21758E-4 41065 0 3.77259E-5
11-67786697-C-A p.Ala150Ala synonymous ALDH3B1 1 82130 1.21758E-5 41065 0 NA
11-67786698-G-A p.Glu151Lys missense ALDH3B1 1 82132 1.21755E-5 41066 0 3.18593E-5
11-67786701-G-C p.Val152Leu missense ALDH3B1 1 82130 1.21758E-5 41065 0 NA
11-67786706-G-A p.Leu153Leu synonymous ALDH3B1 26 82074 3.16787E-4 41037 0 3.85024E-4
11-67786710-C-T p.Gln155* stop_gained ALDH3B1 1 82062 1.21859E-5 41031 0 NA
11-67786715-C-T p.Tyr156Tyr synonymous ALDH3B1 2 82026 2.43825E-5 41013 0 3.18552E-5
11-67786716-G-A p.Val157Met missense ALDH3B1 2 82008 2.43879E-5 41004 0 3.91137E-5
11-67786719-G-C p.Asp158His missense ALDH3B1 6 81972 7.31957E-5 40986 0 NA
11-67786728-A-AG c.477+4_477+5insG splice_region ALDH3B1 1 81866 1.22151E-5 40933 0 NA
11-67787196-G-A p.Val164Met missense ALDH3B1 2 82616 2.42084E-5 41308 0 3.18512E-5
11-67787208-G-A p.Gly168Arg missense ALDH3B1 7 82596 8.47499E-5 41298 0 2.54907E-4
11-67787209-G-A p.Gly168Glu missense ALDH3B1 1 82588 1.21083E-5 41294 0 3.98391E-6
11-67787216-G-A p.Gln170Gln synonymous ALDH3B1 2 82640 2.42014E-5 41320 0 7.32577E-4
11-67787217-G-A p.Glu171Lys missense ALDH3B1 3 82636 3.63038E-5 41318 0 3.5846E-5
11-67787220-A-G p.Thr172Ala missense ALDH3B1 2 82652 2.41978E-5 41326 0 3.98279E-6
11-67787221-C-T p.Thr172Met missense ALDH3B1 1 82648 1.20995E-5 41324 0 4.95475E-5
11-67787222-G-A p.Thr172Thr synonymous ALDH3B1 2 82676 2.41908E-5 41338 0 1.27453E-4
11-67787222-G-T p.Thr172Thr synonymous ALDH3B1 1 82676 1.20954E-5 41338 0 1.19467E-5
11-67787222-G-C p.Thr172Thr synonymous ALDH3B1 1 82676 1.20954E-5 41338 0 NA
11-67787230-T-C p.Leu175Pro missense ALDH3B1 2 82656 2.41967E-5 41328 0 NA
11-67787240-C-T p.His178His synonymous ALDH3B1 1 82638 1.2101E-5 41319 0 8.25737E-6
11-67787244-T-C p.Phe180Leu missense ALDH3B1 2 82604 2.42119E-5 41302 0 3.18878E-5
11-67787246-C-T p.Phe180Phe synonymous ALDH3B1 2 82588 2.42166E-5 41294 0 3.30344E-5
11-67787247-G-A p.Asp181Asn missense ALDH3B1 97 82584 0.00117456 41292 0 0.00654582
11-67787253-ATCT-A p.Phe185del conservative_inframe_deletion ALDH3B1 2 82572 2.42213E-5 41286 0 1.19518E-5
11-67787269-A-C c.559+4A>C splice_region ALDH3B1 3 82452 3.63848E-5 41226 0 1.19726E-5
11-67787273-C-T c.559+8C>T splice_region ALDH3B1 63 82302 7.65474E-4 41151 2 0.01
11-67788946-A-G c.560-8A>G splice_region ALDH3B1 1 82326 1.21468E-5 41163 0 NA
11-67788961-T-C p.Pro189Pro synonymous ALDH3B1 1 82718 1.20893E-5 41359 0 NA
11-67788962-C-A p.Arg190Ser missense ALDH3B1 46 82738 5.55972E-4 41369 0 0.001875
11-67788962-C-T p.Arg190Cys missense ALDH3B1 3 82740 3.62582E-5 41370 0 2.5752E-5
11-67788964-T-C p.Arg190Arg synonymous ALDH3B1 5 82802 6.0385E-5 41401 0 1.70715E-5
11-67788973-G-A p.Lys193Lys synonymous ALDH3B1 3 82976 3.6155E-5 41488 0 8.41482E-6
11-67788975-T-C p.Ile194Thr missense ALDH3B1 4 82974 4.82079E-5 41487 0 3.36101E-5
11-67788981-T-C p.Met196Thr missense ALDH3B1 1 83034 1.20433E-5 41517 0 3.99336E-6
11-67789004-A-G p.Thr204Ala missense ALDH3B1 1 83106 1.20328E-5 41553 0 NA
11-67789009-T-G p.Pro205Pro synonymous ALDH3B1 1 83122 1.20305E-5 41561 0 NA
11-67789010-G-A p.Val206Ile missense ALDH3B1 1 83124 1.20302E-5 41562 0 NA
11-67789012-C-T p.Val206Val synonymous ALDH3B1 1 83132 1.20291E-5 41566 0 NA
11-67789015-C-G p.Thr207Thr synonymous ALDH3B1 1 83132 1.20291E-5 41566 0 NA
11-67789023-TG-T p.Gly212fs frameshift ALDH3B1 3 83166 3.60724E-5 41583 0 3.30278E-5
11-67789029-G-A p.Gly212Asp missense ALDH3B1 6 83126 7.21796E-5 41563 0 5.04032E-4
11-67789035-AC-A p.Pro215fs frameshift ALDH3B1 1 83160 1.2025E-5 41580 0 NA
11-67789038-C-T p.Pro215Leu missense ALDH3B1 1 83176 1.20227E-5 41588 0 3.97852E-6
11-67789042-C-T p.Cys216Cys synonymous ALDH3B1 1 83170 1.20236E-5 41585 0 NA
11-67789046-G-A p.Val218Met missense ALDH3B1 2 83158 2.40506E-5 41579 0 1.98921E-5
11-67789048-GGAC-G p.Asp220del conservative_inframe_deletion ALDH3B1 1 83168 1.20239E-5 41584 0 1.1935E-5
11-67789051-C-T p.Asp219Asp synonymous ALDH3B1 2 83164 2.40489E-5 41582 0 6.38121E-5
11-67789052-G-A p.Asp220Asn missense ALDH3B1 1 83160 1.2025E-5 41580 0 6.25E-4
11-67789060-C-T p.Cys222Cys synonymous ALDH3B1 1 83170 1.20236E-5 41585 0 1.64927E-5
11-67789063-C-T p.Asp223Asp synonymous ALDH3B1 1 83176 1.20227E-5 41588 0 3.97886E-6
11-67789063-C-A p.Asp223Glu missense ALDH3B1 1 83176 1.20227E-5 41588 0 1.64921E-5
11-67789072-C-T p.Thr226Thr synonymous ALDH3B1 57 83156 6.85459E-4 41578 0 0.0015121
11-67789073-G-A p.Val227Met missense ALDH3B1 1 83140 1.20279E-5 41570 0 5.04032E-4
11-67789076-G-C p.Ala228Pro missense ALDH3B1 1 83140 1.20279E-5 41570 0 NA
11-67789081-C-T p.Asn229Asn synonymous ALDH3B1 1 83146 1.2027E-5 41573 0 NA
11-67789082-C-T p.Arg230Cys missense ALDH3B1 1 83146 1.2027E-5 41573 0 8.24362E-6
11-67789083-G-A p.Arg230His missense ALDH3B1 8 83146 9.62163E-5 41573 0 5.04032E-4
11-67789084-C-T p.Arg230Arg synonymous ALDH3B1 2 83150 2.40529E-5 41575 0 5.04032E-4
11-67789085-G-A p.Val231Met missense ALDH3B1 3 83152 3.60785E-5 41576 0 3.18269E-5
11-67789086-T-C p.Val231Ala missense ALDH3B1 1 83156 1.20256E-5 41578 0 6.38855E-5
11-67789097-C-T p.Arg235Cys missense ALDH3B1 19 83170 2.28448E-4 41585 0 1.91436E-4
11-67789098-G-A p.Arg235His missense ALDH3B1 1 83166 1.20241E-5 41583 0 6.38284E-5
11-67789100-T-A p.Tyr236Asn missense ALDH3B1 3 83164 3.60733E-5 41582 0 3.19142E-5
11-67789108-C-T p.Asn238Asn synonymous ALDH3B1 1 83172 1.20233E-5 41586 0 7.95678E-6
11-67789109-G-A p.Ala239Thr missense ALDH3B1 1 83164 1.20244E-5 41582 0 1.19348E-5
11-67789111-C-T p.Ala239Ala synonymous ALDH3B1 6 83160 7.21501E-5 41580 0 6.25E-4
11-67789112-G-A p.Gly240Ser missense ALDH3B1 1 83150 1.20265E-5 41575 0 2.78478E-5
11-67789119-C-T p.Thr242Ile missense ALDH3B1 1 83168 1.20239E-5 41584 0 NA
11-67789122-GCGTGGCCCC-G p.Val244_Pro246del disruptive_inframe_deletion ALDH3B1 3 83164 3.60733E-5 41582 0 4.94478E-5
11-67789123-C-T p.Cys243Cys synonymous ALDH3B1 5 83160 6.01251E-5 41580 0 3.19203E-5
11-67789124-G-A p.Val244Met missense ALDH3B1 3 83164 3.60733E-5 41582 0 6.59348E-5
11-67789128-C-T p.Ala245Val missense ALDH3B1 2 83156 2.40512E-5 41578 0 8.24131E-6
11-67789132-C-G p.Pro246Pro synonymous ALDH3B1 1 83150 1.20265E-5 41575 0 8.24076E-6
11-67789133-G-A p.Asp247Asn missense ALDH3B1 13 83150 1.56344E-4 41575 0 3.58032E-5
11-67789138-C-T p.Tyr248Tyr synonymous ALDH3B1 19021 82974 0.22924 41487 2209 0.226034
11-67789139-G-A p.Val249Ile missense ALDH3B1 3 83182 3.60655E-5 41591 0 7.95558E-6
11-67789143-T-C p.Leu250Pro missense ALDH3B1 1 83198 1.20195E-5 41599 0 NA
11-67789149-G-A p.Ser252Asn missense ALDH3B1 6 83190 7.21241E-5 41595 0 5.03525E-4
11-67789150-C-T p.Ser252Ser synonymous ALDH3B1 1 83190 1.20207E-5 41595 0 3.97798E-6
11-67789156-G-T p.Glu254Asp missense ALDH3B1 1 83206 1.20184E-5 41603 0 NA
11-67789168-G-A p.Arg258Arg synonymous ALDH3B1 1 83192 1.20204E-5 41596 0 NA
11-67789175-C-T p.Pro261Ser missense ALDH3B1 1 83156 1.20256E-5 41578 0 3.29549E-5
11-67789177-T-C p.Pro261Pro synonymous ALDH3B1 2 83162 2.40494E-5 41581 0 0.00553877
11-67789200-G-A p.Arg269His missense ALDH3B1 3 83230 3.60447E-5 41615 0 6.25E-4
11-67789201-T-C p.Arg269Arg synonymous ALDH3B1 1 83222 1.20161E-5 41611 0 3.9769E-6
11-67789207-T-C p.Tyr271Tyr synonymous ALDH3B1 4 83238 4.8055E-5 41619 0 5.76606E-5
11-67789210-C-T p.Gly272Gly synonymous ALDH3B1 2 83236 2.40281E-5 41618 0 3.18756E-5
11-67789211-G-A p.Asp273Asn missense ALDH3B1 4 83236 4.80561E-5 41618 0 8.2375E-6
11-67789213-C-T p.Asp273Asp synonymous ALDH3B1 2 83248 2.40246E-5 41624 0 8.2375E-6
11-67789214-G-A p.Asp274Asn missense ALDH3B1 2 83238 2.40275E-5 41619 0 6.37471E-5
11-67789217-C-T p.Pro275Ser missense ALDH3B1 1 83270 1.20091E-5 41635 0 NA
11-67789234-C-G p.Asn280Lys missense ALDH3B1 2 83290 2.40125E-5 41645 0 NA
11-67789236-T-G p.Leu281Arg missense ALDH3B1 1 83288 1.20065E-5 41644 0 NA
11-67789241-C-T p.Arg283Cys missense ALDH3B1 1 83298 1.20051E-5 41649 0 3.18817E-5
11-67789242-G-A p.Arg283His missense ALDH3B1 1 83302 1.20045E-5 41651 0 5.03525E-4
11-67789275-G-A p.Arg294Gln missense ALDH3B1 357 83240 0.0042888 41620 5 0.0253247
11-67789277-G-A p.Ala295Thr missense ALDH3B1 12 83244 1.44155E-4 41622 0 9.74367E-4
11-67789287-G-T p.Gly298Val missense ALDH3B1 1 83194 1.20201E-5 41597 0 0.5
11-67789291-C-CA c.897_897+1insA splice_acceptor ALDH3B1 30 83188 3.60629E-4 41594 0 0.422018
11-67789291-C-T p.Cys299Cys splice_region+synonymous ALDH3B1 2 83186 2.40425E-5 41593 0 0.0183486
11-67789293-G-GC p.Arg300fs frameshift ALDH3B1 83105 83172 0.999194 41586 41552 0.999586
11-67789293-G-GGCATTGCTGGGCTGCGGC p.Cys299_Arg300insAlaLeuLeuGlyCysGly conservative_inframe_insertion ALDH3B1 1 83180 1.20221E-5 41590 0 NA
11-67789295-G-T p.Arg300Leu missense+splice_region ALDH3B1 5 83154 6.01294E-5 41577 0 5.03525E-4
11-67789295-G-A p.Arg300His missense+splice_region ALDH3B1 1 83154 1.20259E-5 41577 0 4.22604E-5
11-67789304-T-C p.Ile303Thr missense ALDH3B1 8 83168 9.61908E-5 41584 0 4.41955E-5
11-67789304-T-A p.Ile303Asn missense ALDH3B1 1 83168 1.20239E-5 41584 0 NA
11-67789312-C-CAGAGCGATG p.Glu309_Asp311dup conservative_inframe_insertion ALDH3B1 2 83146 2.40541E-5 41573 0 NA
11-67789317-C-T p.Ser307Ser synonymous ALDH3B1 2 83098 2.4068E-5 41549 0 1.62561E-5
11-67789318-G-A p.Asp308Asn missense ALDH3B1 1 83100 1.20337E-5 41550 0 9.56511E-5
11-67789321-G-A p.Glu309Lys missense ALDH3B1 20 83094 2.40691E-4 41547 0 2.73516E-4
11-67789327-G-A p.Asp311Asn missense ALDH3B1 1 83054 1.20404E-5 41527 0 0.00125
11-67789330-C-T p.Arg312Cys missense ALDH3B1 4 83038 4.81707E-5 41519 0 1.25322E-5
11-67789330-C-G p.Arg312Gly missense ALDH3B1 2 83038 2.40854E-5 41519 0 3.18878E-5
11-67789331-G-A p.Arg312His missense ALDH3B1 8 82996 9.63902E-5 41498 0 9.64142E-5
11-67789338-C-G p.Ile314Met missense+splice_region ALDH3B1 1 82960 1.2054E-5 41480 0 1.28347E-5
11-67789341-T-G c.943+2T>G splice_donor ALDH3B1 1 82900 1.20627E-5 41450 0 4.3985E-6
11-67789342-G-A c.943+3G>A splice_region ALDH3B1 1 82900 1.20627E-5 41450 0 NA
11-67789346-C-A c.943+7C>A splice_region ALDH3B1 1 82804 1.20767E-5 41402 0 NA
11-67790057-C-T c.944-6C>T splice_region ALDH3B1 1 81954 1.2202E-5 40977 0 8.3282E-6
11-67790058-T-C c.944-5T>C splice_region ALDH3B1 1 81974 1.2199E-5 40987 0 3.98648E-6
11-67790062-G-A c.944-1G>A splice_acceptor ALDH3B1 1 82104 1.21797E-5 41052 0 8.30924E-6
11-67790067-C-T p.Pro316Pro synonymous ALDH3B1 1 82198 1.21657E-5 41099 0 1.99135E-5
11-67790069-C-T p.Thr317Met missense ALDH3B1 1 82206 1.21646E-5 41103 0 3.18756E-5
11-67790070-G-C p.Thr317Thr synonymous ALDH3B1 4 82280 4.86145E-5 41140 0 5.30223E-4
11-67790070-G-A p.Thr317Thr synonymous ALDH3B1 3 82280 3.64609E-5 41140 0 5.17623E-5
11-67790074-C-T p.Leu319Leu synonymous ALDH3B1 1 82418 1.21333E-5 41209 0 8.27048E-6
11-67790093-T-C p.Met325Thr missense ALDH3B1 2 82718 2.41785E-5 41359 0 4.12603E-5
11-67790097-G-C p.Glu326Asp missense ALDH3B1 14 82780 1.69123E-4 41390 0 0.00158898
11-67790098-C-A p.Pro327Thr missense ALDH3B1 1 82790 1.20788E-5 41395 0 2.38677E-5
11-67790102-T-G p.Val328Gly missense ALDH3B1 1 82864 1.2068E-5 41432 0 NA
11-67790107-CAGG-C p.Glu332del conservative_inframe_deletion ALDH3B1 1 82886 1.20648E-5 41443 0 1.19329E-5
11-67790115-G-A p.Glu332Glu synonymous ALDH3B1 1 82922 1.20595E-5 41461 0 8.24416E-6
11-67790116-A-G p.Ile333Val missense ALDH3B1 3 82886 3.61943E-5 41443 0 NA
11-67790118-C-A p.Ile333Ile synonymous ALDH3B1 20 82880 2.41313E-4 41440 1 0.00125
11-67790122-G-A p.Gly335Arg missense ALDH3B1 6 82898 7.23781E-5 41449 0 4.37543E-5
11-67790138-T-A p.Ile340Asn missense ALDH3B1 1 82960 1.2054E-5 41480 0 NA
11-67790139-C-T p.Ile340Ile synonymous ALDH3B1 1 82944 1.20563E-5 41472 0 1.6484E-5
11-67790145-C-T p.Asn342Asn synonymous ALDH3B1 297 82944 0.00358073 41472 4 0.00822389
11-67790146-G-A p.Val343Met missense ALDH3B1 2 82966 2.41063E-5 41483 0 5.04032E-4
11-67790160-C-T p.Asp347Asp synonymous ALDH3B1 65 82926 7.83831E-4 41463 0 0.00200803
11-67790161-G-A p.Glu348Lys missense ALDH3B1 4 82938 4.82288E-5 41469 0 4.77293E-5
11-67790169-C-G p.Ile350Met missense ALDH3B1 4 82870 4.82684E-5 41435 0 NA
11-67790177-T-C p.Ile353Thr missense ALDH3B1 2 82816 2.41499E-5 41408 0 NA
11-67790183-G-A p.Arg355Gln missense ALDH3B1 17 82736 2.05473E-4 41368 0 2.42726E-4
11-67790185-C-T p.Arg356Trp missense ALDH3B1 2 82668 2.41932E-5 41334 0 3.18593E-5
11-67790186-G-A p.Arg356Gln missense ALDH3B1 1 82690 1.20934E-5 41345 0 5.03525E-4
11-67790188-G-A p.Glu357Lys missense ALDH3B1 28 82642 3.38811E-4 41321 0 0.00130529
11-67790198-T-C p.Leu360Pro missense ALDH3B1 6 82472 7.2752E-5 41236 0 5.03525E-4
11-67790208-C-T p.Tyr363Tyr synonymous ALDH3B1 25 82152 3.04314E-4 41076 0 0.00251762
11-67790209-G-A p.Ala364Thr missense ALDH3B1 2 82042 2.43778E-5 41021 0 9.078E-5
11-67790227-C-T p.Gln370* stop_gained ALDH3B1 4 81732 4.89404E-5 40866 0 6.37267E-5
11-67790229-G-A p.Gln370Gln splice_region+synonymous ALDH3B1 1 81690 1.22414E-5 40845 0 NA
11-67790231-T-C c.1110+2T>C splice_donor ALDH3B1 1 81564 1.22603E-5 40782 0 3.99946E-6
11-67790234-G-A c.1110+5G>A splice_region ALDH3B1 1 81688 1.22417E-5 40844 0 NA
11-67790236-G-A c.1110+7G>A splice_region ALDH3B1 3 81620 3.67557E-5 40810 1 8.0116E-6
11-67793486-C-A p.Arg374Arg synonymous ALDH3B1 1 81634 1.22498E-5 40817 0 0.00100705
11-67793487-G-A p.Arg374Gln missense ALDH3B1 3 81642 3.67458E-5 40821 0 0.00151057
11-67793489-G-A p.Val375Met missense ALDH3B1 5 81736 6.11726E-5 40868 0 3.18654E-5
11-67793501-A-G p.Thr379Ala missense ALDH3B1 32 81934 3.90558E-4 40967 0 2.44191E-4
11-67793509-C-T p.Ser381Ser synonymous ALDH3B1 18128 81276 0.223042 40638 2068 0.239938
11-67793523-G-A p.Gly386Glu missense ALDH3B1 1 82078 1.21835E-5 41039 0 9.84155E-6
11-67793527-C-T p.Asn387Asn synonymous ALDH3B1 3 82046 3.65649E-5 41023 0 0.00100705
11-67793528-G-A p.Asp388Asn missense ALDH3B1 1 82054 1.21871E-5 41027 0 2.95003E-5
11-67793530-C-T p.Asp388Asp synonymous ALDH3B1 12 82070 1.46217E-4 41035 0 5.03525E-4
11-67793542-C-T p.His392His synonymous ALDH3B1 2 82086 2.43647E-5 41043 0 2.39149E-4
11-67793550-T-G p.Leu395Arg missense ALDH3B1 1 82048 1.2188E-5 41024 0 NA
11-67793553-C-A p.Ala396Asp missense ALDH3B1 1 82018 1.21924E-5 41009 0 2.50378E-5
11-67793557-C-G p.Ser397Arg missense ALDH3B1 1 81932 1.22052E-5 40966 0 NA
11-67793573-G-T p.Val403Leu missense ALDH3B1 4 81740 4.89356E-5 40870 0 5.65189E-5
11-67793583-G-A c.1210+7G>A splice_region ALDH3B1 1 81416 1.22826E-5 40708 0 7.22857E-5
11-67793584-C-A c.1210+8C>A splice_region ALDH3B1 1 81378 1.22883E-5 40689 0 NA
11-67795230-G-A p.Met408Ile missense ALDH3B1 1 79078 1.26457E-5 39539 0 6.18827E-6
11-67795232-G-T p.Gly409Val missense ALDH3B1 1 79078 1.26457E-5 39539 0 6.17772E-6
11-67795233-C-A p.Gly409Gly synonymous ALDH3B1 2 79076 2.52921E-5 39538 0 NA
11-67795234-C-T p.Arg410Trp missense ALDH3B1 2 79080 2.52908E-5 39540 0 1.36811E-4
11-67795234-C-A p.Arg410Arg synonymous ALDH3B1 2 79080 2.52908E-5 39540 0 NA
11-67795235-G-A p.Arg410Gln missense ALDH3B1 11 79132 1.39008E-4 39566 0 1.276E-4
11-67795242-T-C p.His412His synonymous ALDH3B1 2 79262 2.52328E-5 39631 0 NA
11-67795274-A-G p.His423Arg missense ALDH3B1 4 79530 5.02955E-5 39765 0 8.76424E-5
11-67795276-C-T p.Arg424Cys missense ALDH3B1 1 79516 1.25761E-5 39758 0 4.39676E-5
11-67795279-G-A p.Ala425Thr missense ALDH3B1 3 79570 3.77027E-5 39785 0 5.58481E-4
11-67795287-C-T p.Leu427Leu synonymous ALDH3B1 1 79684 1.25496E-5 39842 0 3.18735E-5
11-67795291-C-T p.Arg429Cys missense ALDH3B1 3 79646 3.76667E-5 39823 0 6.25E-4
11-67795292-G-A p.Arg429His missense ALDH3B1 1 79624 1.2559E-5 39812 0 0.00153374
11-67795298-C-T p.Pro431Leu missense ALDH3B1 4 79658 5.02147E-5 39829 0 5.11771E-4
11-67795299-G-A p.Pro431Pro synonymous ALDH3B1 16421 79382 0.20686 39691 1821 0.263488
11-67795306-G-A p.Glu434Lys missense ALDH3B1 38 79814 4.76107E-4 39907 0 8.06163E-4
11-67795317-C-T p.Asn437Asn synonymous ALDH3B1 2 79758 2.50759E-5 39879 0 6.47585E-6
11-67795318-G-A p.Ala438Thr missense ALDH3B1 1 79620 1.25597E-5 39810 0 4.70278E-5
11-67795320-C-T p.Ala438Ala synonymous ALDH3B1 1 79790 1.25329E-5 39895 0 0.00102041
11-67795324-C-T p.Arg440Cys missense ALDH3B1 2 79610 2.51225E-5 39805 0 4.64326E-5
11-67795325-G-A p.Arg440His missense ALDH3B1 4 79538 5.02904E-5 39769 0 1.19458E-4
11-67795326-C-T p.Arg440Arg synonymous ALDH3B1 3 79572 3.77017E-5 39786 0 5.01404E-5
11-67795332-G-T p.Pro442Pro synonymous ALDH3B1 1 80742 1.23851E-5 40371 0 NA
11-67795334-C-T p.Pro443Leu missense ALDH3B1 3 80762 3.71462E-5 40381 0 1.28493E-4
11-67795335-G-A p.Pro443Pro synonymous ALDH3B1 3 80772 3.71416E-5 40386 0 7.87836E-5
11-67795340-C-T p.Ser445Leu missense ALDH3B1 5 80834 6.18552E-5 40417 0 1.56274E-4
11-67795341-G-A p.Ser445Ser synonymous ALDH3B1 3 80812 3.71232E-5 40406 0 3.87988E-5
11-67795343-C-T p.Pro446Leu missense ALDH3B1 1 80864 1.23664E-5 40432 0 3.86937E-5
11-67795344-G-A p.Pro446Pro synonymous ALDH3B1 12 80848 1.48427E-4 40424 0 0.00104708
11-67795345-C-T p.Arg447Cys missense ALDH3B1 5 80886 6.18154E-5 40443 0 7.03581E-5
11-67795346-G-A p.Arg447His missense ALDH3B1 9 80866 1.11295E-4 40433 0 1.18699E-4
11-67795348-C-T p.Arg448Cys missense ALDH3B1 1 80902 1.23606E-5 40451 0 3.75996E-5
11-67795349-G-A p.Arg448His missense ALDH3B1 9 80904 1.11243E-4 40452 0 1.62893E-4
11-67795353-G-A p.Leu449Leu synonymous ALDH3B1 14106 80632 0.174943 40316 1272 0.265272
11-67795356-G-T p.Arg450Ser missense ALDH3B1 1 80972 1.23499E-5 40486 0 NA
11-67795363-C-A p.Leu453Met missense ALDH3B1 1 80826 1.23723E-5 40413 0 1.60565E-4
11-67795365-G-A p.Leu453Leu synonymous ALDH3B1 1 80812 1.23744E-5 40406 0 NA
11-67795372-A-G p.Met456Val missense ALDH3B1 2 80782 2.4758E-5 40391 0 0.5
11-67795373-T-C p.Met456Thr missense ALDH3B1 1 80768 1.23811E-5 40384 0 0.0277778
11-67795378-G-GC p.Gln458fs frameshift ALDH3B1 80539 80574 0.999566 40287 40269 1.0
11-67795391-C-T p.Ser461Ser synonymous ALDH3B1 1 80368 1.24428E-5 40184 0 3.57296E-5
11-67795397-A-G p.Thr463Thr synonymous ALDH3B1 2 80334 2.48961E-5 40167 0 1.4537E-4
11-67795403-CT-C p.Ter466fs frameshift ALDH3B1 1 80164 1.24744E-5 40082 0 NA
11-67795511-G-A c.602-8G>A splice_region ALDH3B1 2 79390 2.51921E-5 39695 0 4.40591E-6
11-67795518-G-A c.602-1G>A splice_acceptor ALDH3B1 6 79312 7.56506E-5 39656 0 1.91489E-4
11-67795521-C-A p.His202Asn missense+splice_region ALDH3B1 5 79156 6.31664E-5 39578 0 2.22578E-5
11-67795536-C-T p.Arg207Cys missense ALDH3B1 2 78660 2.54259E-5 39330 0 1.18219E-4
11-67795537-G-A p.Arg207His missense ALDH3B1 2 78586 2.54498E-5 39293 0 5.69152E-5
11-67795538-C-T p.Arg207Arg synonymous ALDH3B1 1 78548 1.27311E-5 39274 0 NA
11-67795540-T-C p.Leu208Pro missense ALDH3B1 1 78480 1.27421E-5 39240 0 NA
11-67795549-C-G p.Pro211Arg missense ALDH3B1 17 78132 2.1758E-4 39066 0 6.25E-4
11-67795551-TC-T p.Trp213fs frameshift ALDH3B1 2 77988 2.5645E-5 38994 0 4.33755E-5
11-67795556-G-A p.Trp213* stop_gained ALDH3B1 2 77586 2.57778E-5 38793 0 NA
11-67795557-G-T p.Val214Phe missense ALDH3B1 2 77508 2.58038E-5 38754 0 NA
11-67795569-C-T p.Pro218Ser missense ALDH3B1 1 76602 1.30545E-5 38301 0 3.4727E-5
11-67795572-G-A p.Ala219Thr missense ALDH3B1 1 76098 1.31409E-5 38049 0 NA
11-67795580-C-T p.Ala221Ala synonymous ALDH3B1 6 75342 7.96369E-5 37671 0 9.5584E-5
11-67795587-C-T p.Leu224Phe missense ALDH3B1 7 74582 9.38564E-5 37291 0 2.52283E-4
11-67795594-G-A p.Arg226His missense ALDH3B1 1 73108 1.36784E-5 36554 0 9.21489E-5
11-67795601-AC-A p.Pro229fs frameshift ALDH3B1 2 72426 2.76144E-5 36213 0 1.36158E-5
11-67796143-TAAAA-T n.2274_2277delAAAA splice_region ALDH3B1 46 1948 0.023614 974 1 0.00183752
11-67796143-TAAA-T n.2275_2277delAAA splice_region ALDH3B1 118 1790 0.0659218 895 18 0.247485
11-67796143-TAA-T n.2276_2277delAA splice_region ALDH3B1 27 1866 0.0144695 933 1 0.17442
11-67796143-TA-T n.2277delA splice_region ALDH3B1 11 1924 0.00571726 962 3 0.259526
11-67796143-TAAAAA-T n.2273_2277delAAAAA splice_region ALDH3B1 1 1982 5.04541E-4 991 0 NA