Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-55035489-G-A c.*124C>T splice_region ALAS2 66 68086 9.69362E-4 34043 0 0.0080334
X-55035620-T-A p.Tyr586Phe missense ALAS2 111 81748 0.00135783 40874 28 0.00276052
X-55035641-C-A p.Gly579Val missense ALAS2 1 81728 1.22357E-5 40864 0 NA
X-55035645-T-G p.Met578Leu missense ALAS2 2 81686 2.4484E-5 40843 1 3.39801E-5
X-55035652-G-A p.Phe575Phe synonymous ALAS2 3 81604 3.67629E-5 40802 1 NA
X-55035659-G-A p.Ser573Phe missense ALAS2 37 81560 4.53654E-4 40780 11 3.40954E-4
X-55035661-A-G p.Arg572Arg synonymous ALAS2 1 81524 1.22663E-5 40762 0 1.70465E-5
X-55035670-C-T p.Glu569Glu synonymous ALAS2 6 81306 7.37953E-5 40653 2 6.87947E-5
X-55035679-G-C p.Leu566Leu synonymous ALAS2 1 81116 1.2328E-5 40558 0 4.62107E-5
X-55035687-A-T p.Phe564Ile missense ALAS2 2 80890 2.47249E-5 40445 1 5.87078E-6
X-55035701-C-T p.Arg559His missense ALAS2 191 80406 0.00237544 40203 42 0.00332002
X-55035730-A-G p.Asp549Asp synonymous ALAS2 22 80092 2.74684E-4 40046 2 0.00110906
X-55035733-C-A p.Gln548His missense ALAS2 1 80126 1.24803E-5 40063 0 6.90131E-4
X-55035738-G-C p.Leu547Val missense ALAS2 3 80190 3.74111E-5 40095 1 6.11142E-6
X-55035751-C-T p.Ala542Ala synonymous ALAS2 569 80038 0.00710912 40019 136 0.014462
X-55035752-G-A p.Ala542Val missense ALAS2 3 80020 3.74906E-5 40010 0 4.36461E-5
X-55035754-A-G p.Thr541Thr synonymous ALAS2 2 80096 2.497E-5 40048 0 2.50247E-5
X-55035754-A-C p.Thr541Thr synonymous ALAS2 3 80096 3.74551E-5 40048 0 1.25124E-5
X-55035756-T-A p.Thr541Ser missense ALAS2 1 80036 1.24944E-5 40018 0 4.63714E-5
X-55035775-C-G p.Glu534Asp missense+splice_region ALAS2 1 80302 1.2453E-5 40151 0 NA
X-55035783-G-A c.1601-7C>T splice_region ALAS2 1 80202 1.24685E-5 40101 0 NA
X-55039924-A-C p.Phe532Cys missense ALAS2 1 80526 1.24183E-5 40263 0 5.5618E-6
X-55039951-T-TG p.His523fs frameshift ALAS2 1 80254 1.24604E-5 40127 0 NA
X-55039952-G-A p.His523Tyr missense ALAS2 22 80296 2.73986E-4 40148 7 0.00137741
X-55039956-G-A p.Ser521Ser synonymous ALAS2 13 80260 1.61974E-4 40130 6 3.4954E-5
X-55039959-G-T p.Pro520Pro synonymous ALAS2 426 80226 0.00531 40113 105 0.0103377
X-55039960-G-A p.Pro520Leu missense ALAS2 134 80290 0.00166895 40145 36 0.00550964
X-55039969-C-T p.Arg517His missense ALAS2 1 80688 1.23934E-5 40344 0 NA
X-55039988-G-T p.Arg511Arg synonymous ALAS2 2 81510 2.45369E-5 40755 1 NA
X-55039991-G-A p.Pro510Ser missense ALAS2 1 81598 1.22552E-5 40799 0 5.45944E-6
X-55040010-G-A p.Ala503Ala synonymous ALAS2 4 82002 4.87793E-5 41001 2 1.14542E-5
X-55040019-A-G p.Tyr500Tyr synonymous ALAS2 2 82126 2.43528E-5 41063 1 NA
X-55040026-C-A p.Gly498Val missense ALAS2 2 82152 2.43451E-5 41076 1 NA
X-55040040-C-A p.Leu493Leu synonymous ALAS2 1 82082 1.21829E-5 41041 0 NA
X-55040061-G-A p.Asn486Asn synonymous ALAS2 2 81604 2.45086E-5 40802 1 1.14695E-5
X-55040072-C-G p.Ala483Pro missense ALAS2 2 80890 2.47249E-5 40445 1 9.20683E-5
X-55040082-C-CCGGATGGGGA c.1438-2_1438-1insTCCCCATCCG splice_acceptor ALAS2 1 80144 1.24775E-5 40072 0 NA
X-55040086-A-ATGGGGATGATGTGG c.1438-6_1438-5insCCACATCATCCCCA splice_region ALAS2 1 79722 1.25436E-5 39861 0 NA
X-55041177-C-T c.1437+3G>A splice_region ALAS2 2 76398 2.61787E-5 38199 1 NA
X-55041181-C-T p.Arg479Gln missense+splice_region ALAS2 40 76532 5.22657E-4 38266 10 0.00221239
X-55041182-G-A p.Arg479Trp missense+splice_region ALAS2 2 76644 2.60947E-5 38322 1 2.13927E-5
X-55041182-G-C p.Arg479Gly missense+splice_region ALAS2 1 76644 1.30473E-5 38322 0 NA
X-55041216-A-G p.Pro467Pro synonymous ALAS2 1 77570 1.28916E-5 38785 0 2.52602E-5
X-55041225-C-A p.Arg464Ser missense ALAS2 2 77962 2.56535E-5 38981 0 NA
X-55041233-T-C p.Met462Val missense ALAS2 2 78470 2.54874E-5 39235 1 NA
X-55041245-G-A p.Arg458Cys missense ALAS2 2 78984 2.53216E-5 39492 1 6.1862E-6
X-55041258-A-G p.Asn453Asn synonymous ALAS2 1 79892 1.25169E-5 39946 0 1.22172E-5
X-55041296-C-T p.Glu441Lys missense ALAS2 8 81180 9.85464E-5 40590 2 5.09236E-4
X-55041299-C-G p.Gly440Arg missense ALAS2 2 81252 2.46148E-5 40626 0 3.49834E-5
X-55041320-C-T p.Glu433Lys missense ALAS2 1 81502 1.22696E-5 40751 0 6.90131E-4
X-55041373-G-A p.Ala415Val missense ALAS2 9 80998 1.11114E-4 40499 0 1.38718E-4
X-55041374-C-T p.Ala415Thr missense ALAS2 3 80922 3.70727E-5 40461 1 NA
X-55041379-T-C p.Tyr413Cys missense ALAS2 2 80720 2.4777E-5 40360 1 NA
X-55041406-C-T p.Arg404His missense ALAS2 2 78700 2.5413E-5 39350 0 4.56392E-5
X-55041419-T-C p.Ile400Val missense ALAS2 4 77564 5.15703E-5 38782 1 NA
X-55041433-C-G p.Cys395Ser missense ALAS2 1 75414 1.32601E-5 37707 0 NA
X-55041450-T-G c.1169-2A>C splice_acceptor ALAS2 1 72036 1.38819E-5 36018 0 NA
X-55042005-A-G c.1168+6T>C splice_region ALAS2 1 82538 1.21156E-5 41269 0 NA
X-55042009-A-G c.1168+2T>C splice_donor ALAS2 8 82632 9.68148E-5 41316 4 NA
X-55042012-A-C p.Leu389Leu splice_region+synonymous ALAS2 145 82696 0.00175341 41348 33 0.00254736
X-55042055-C-T p.Arg375His missense ALAS2 4 83080 4.81464E-5 41540 1 4.62599E-5
X-55042072-G-A p.Gly369Gly synonymous ALAS2 1 83106 1.20328E-5 41553 0 6.87758E-4
X-55042076-C-T p.Arg368Gln missense ALAS2 36 83136 4.33025E-4 41568 13 0.00206327
X-55042084-A-G p.Tyr365Tyr synonymous ALAS2 6 83130 7.21761E-5 41565 2 4.57917E-5
X-55042087-C-T p.Leu364Leu synonymous ALAS2 142 83136 0.00170804 41568 32 0.00262758
X-55042099-A-G p.His360His synonymous ALAS2 2 83102 2.40668E-5 41551 0 0.0025
X-55042114-G-A p.Phe355Phe synonymous ALAS2 1 83072 1.20378E-5 41536 0 5.45598E-6
X-55042117-G-C p.Thr354Thr synonymous ALAS2 1 83068 1.20383E-5 41534 0 1.38095E-4
X-55042158-C-T p.Glu341Lys missense ALAS2 1 82558 1.21127E-5 41279 0 2.73373E-5
X-55043962-C-G p.Lys320Asn missense ALAS2 1 83106 1.20328E-5 41553 0 NA
X-55043973-A-C p.Ser317Ala missense ALAS2 1 83150 1.20265E-5 41575 0 NA
X-55043995-G-A n.644C>T splice_region ALAS2 2 83226 2.4031E-5 41613 1 NA
X-55043998-G-T p.Asp308Glu missense ALAS2 5 83220 6.00817E-5 41610 2 NA
X-55044000-C-T p.Asp308Asn missense ALAS2 1 83236 1.2014E-5 41618 0 5.44995E-6
X-55044008-T-C p.Asn305Ser missense ALAS2 1 83232 1.20146E-5 41616 0 NA
X-55044016-G-A p.Phe302Phe synonymous ALAS2 1 83248 1.20123E-5 41624 0 NA
X-55044036-C-T p.Gly296Arg missense ALAS2 9 83230 1.08134E-4 41615 2 9.14955E-5
X-55044044-C-T p.Arg293His missense ALAS2 1 83218 1.20166E-5 41609 0 3.27006E-5
X-55044077-G-A p.Ala282Val missense ALAS2 2 83166 2.40483E-5 41583 0 NA
X-55044078-C-T p.Ala282Thr missense ALAS2 1 83148 1.20267E-5 41574 0 7.97721E-5
X-55044078-C-A p.Ala282Ser missense ALAS2 5 83146 6.01352E-5 41573 1 2.849E-4
X-55044079-G-A p.Asp281Asp synonymous ALAS2 3 83156 3.60768E-5 41578 1 5.45081E-6
X-55044093-C-T p.Glu277Lys missense ALAS2 2 83084 2.4072E-5 41542 0 1.13987E-5
X-55044094-G-A p.Cys276Cys synonymous ALAS2 22 83076 2.64818E-4 41538 6 0.00137552
X-55046748-C-T c.823+5G>A splice_region ALAS2 5 77624 6.44131E-5 38812 1 3.609E-4
X-55046750-T-C c.823+3A>G splice_region ALAS2 2 77784 2.57122E-5 38892 0 0.0025
X-55046757-C-A p.Leu273Leu synonymous ALAS2 2 78056 2.56226E-5 39028 0 NA
X-55046760-G-C p.Ile272Met missense ALAS2 1 78216 1.27851E-5 39108 0 NA
X-55046766-G-A p.Ala270Ala synonymous ALAS2 2 78382 2.55161E-5 39191 0 1.38319E-4
X-55046822-C-T p.Ala252Thr missense ALAS2 2 79590 2.51288E-5 39795 1 5.85264E-6
X-55046844-A-T p.Ala244Ala synonymous ALAS2 2 79988 2.50038E-5 39994 1 NA
X-55046856-C-T p.Glu240Glu synonymous ALAS2 2 80272 2.49153E-5 40136 1 NA
X-55046863-T-A p.Glu238Val missense ALAS2 28 80356 3.48449E-4 40178 9 3.07589E-4
X-55046901-G-A p.Gly225Gly synonymous ALAS2 1 80398 1.24381E-5 40199 0 7.92896E-5
X-55046907-A-G p.Ala223Ala synonymous ALAS2 5 80374 6.22092E-5 40187 2 4.54384E-5
X-55046913-A-T p.Ala221Ala synonymous ALAS2 1 80292 1.24545E-5 40146 0 NA
X-55046914-G-A p.Ala221Val missense ALAS2 2 80248 2.49227E-5 40124 1 NA
X-55046915-C-T p.Ala221Thr missense ALAS2 18 80240 2.24327E-4 40120 6 5.41624E-5
X-55046923-C-T p.Arg218His missense ALAS2 44 80018 5.49876E-4 40009 11 0.00280702
X-55046937-C-CTGTGTGGCTTGCAAGACCTGAGGGTGTCGGCTCATGCCCAGGTAATCATTA c.639-1_639insTAATGATTACCTGGGCATGAGCCGACACCCTCAGGTCTTGCAAGCCACACA splice_acceptor ALAS2 2 79504 2.5156E-5 39752 1 NA
X-55047512-C-T p.Arg204Gln missense ALAS2 1 82130 1.21758E-5 41065 0 5.46726E-6
X-55047532-A-G p.Asn197Asn synonymous ALAS2 2 82566 2.4223E-5 41283 1 5.45893E-6
X-55047546-C-T p.Val193Ile missense ALAS2 1 82622 1.21033E-5 41311 0 4.62492E-5
X-55047569-G-A p.Ser185Phe missense ALAS2 2 82746 2.41704E-5 41373 1 2.28483E-5
X-55047585-G-A p.His180Tyr missense ALAS2 1 82756 1.20837E-5 41378 0 1.1414E-5
X-55047592-A-T p.Phe177Leu missense ALAS2 4 82764 4.83302E-5 41382 0 NA
X-55047621-C-T p.Val168Met missense ALAS2 5 82800 6.03865E-5 41400 1 4.36419E-5
X-55047673-C-T p.Arg150Arg synonymous ALAS2 1 82688 1.20937E-5 41344 0 NA
X-55047692-C-T p.Ser144Asn missense ALAS2 3 82462 3.63804E-5 41231 1 6.01277E-5
X-55047706-T-C p.Gly139Gly splice_region+synonymous ALAS2 1 81994 1.2196E-5 40997 0 4.53248E-5
X-55050191-A-C p.Pro138Pro splice_region+synonymous ALAS2 2 82026 2.43825E-5 41013 1 NA
X-55050199-T-G p.Asn136His missense ALAS2 3 82226 3.64848E-5 41113 1 NA
X-55050209-C-G p.Leu132Leu synonymous ALAS2 2 82408 2.42695E-5 41204 1 NA
X-55050215-T-C p.Thr130Thr synonymous ALAS2 2 82474 2.42501E-5 41237 0 1.09455E-4
X-55050224-C-T p.Gly127Gly synonymous ALAS2 3 82470 3.63769E-5 41235 1 4.58863E-5
X-55050232-T-C p.Ile125Val missense ALAS2 15 82468 1.81889E-4 41234 4 1.82996E-4
X-55050248-G-A p.Pro119Pro synonymous ALAS2 1 82300 1.21507E-5 41150 0 NA
X-55050253-C-T p.Gly118Ser missense ALAS2 1 82216 1.21631E-5 41108 0 6.88231E-4
X-55050254-G-A p.Ser117Ser synonymous ALAS2 1 82186 1.21675E-5 41093 0 5.48974E-6
X-55050274-T-G p.Ser111Arg missense ALAS2 1 81984 1.21975E-5 40992 0 2.56364E-5
X-55051173-T-C p.Glu94Glu synonymous ALAS2 288 82770 0.00347952 41385 65 0.00699205
X-55051177-T-C p.Gln93Arg missense ALAS2 7 82828 8.45125E-5 41414 2 9.12575E-5
X-55051179-G-A p.Val92Val synonymous ALAS2 1 82826 1.20735E-5 41413 0 NA
X-55051190-C-A p.Ala89Ser missense ALAS2 2 82868 2.41348E-5 41434 0 1.13977E-5
X-55051200-C-T p.Val85Val synonymous ALAS2 1 82904 1.20621E-5 41452 0 4.54814E-5
X-55051224-G-T p.Leu77Leu synonymous ALAS2 17 82872 2.05136E-4 41436 4 7.52688E-4
X-55051230-C-T p.Ser75Ser synonymous ALAS2 2 82862 2.41365E-5 41431 0 1.82407E-4
X-55051231-G-A p.Ser75Leu missense ALAS2 1 82858 1.20688E-5 41429 0 2.18169E-5
X-55051235-G-A p.Leu74Leu synonymous ALAS2 4 82874 4.8266E-5 41437 1 4.14499E-4
X-55051257-C-T p.Ala66Ala synonymous ALAS2 449 82842 0.00541996 41421 94 0.0112215
X-55051258-G-A p.Ala66Val missense ALAS2 8 82818 9.65974E-5 41409 3 3.49082E-4
X-55051265-A-G p.Ser64Pro missense ALAS2 8 82834 9.65787E-5 41417 2 1.4816E-4
X-55051277-T-C c.182-4A>G splice_region ALAS2 3 82806 3.62293E-5 41403 0 NA
X-55051281-A-G c.182-8T>C splice_region ALAS2 1 82780 1.20802E-5 41390 0 1.13972E-5
X-55052263-C-A p.Lys57Asn missense ALAS2 8 81172 9.85561E-5 40586 2 6.87758E-4
X-55052266-T-G p.Thr56Thr synonymous ALAS2 2 81288 2.46039E-5 40644 0 5.46272E-6
X-55052269-T-C p.Ala55Ala synonymous ALAS2 4 81310 4.91944E-5 40655 0 NA
X-55052270-G-A p.Ala55Val missense ALAS2 1 81360 1.22911E-5 40680 0 NA
X-55052271-C-A p.Ala55Ser missense ALAS2 1 81380 1.2288E-5 40690 0 1.14371E-5
X-55052325-G-A p.Arg37Cys missense ALAS2 3 81746 3.6699E-5 40873 1 4.58652E-5
X-55052330-A-G p.Ile35Thr missense ALAS2 1 81760 1.22309E-5 40880 0 2.18521E-5
X-55052335-A-G p.Phe33Phe synonymous ALAS2 2 81726 2.4472E-5 40863 0 NA
X-55052361-C-T p.Val25Met missense ALAS2 1 81440 1.2279E-5 40720 0 1.64206E-5
X-55052366-C-T p.Gly23Asp missense ALAS2 1 81342 1.22938E-5 40671 0 NA
X-55052378-G-T p.Thr19Lys missense ALAS2 1 81226 1.23113E-5 40613 0 NA
X-55052387-C-T p.Arg16Gln missense ALAS2 13 81096 1.60304E-4 40548 5 3.80948E-4
X-55052388-G-A p.Arg16Trp missense ALAS2 3 81064 3.70078E-5 40532 1 0.00206469
X-55052391-C-G p.Ala15Pro missense ALAS2 1 81066 1.23356E-5 40533 0 8.37E-5
X-55052394-G-C p.Leu14Val missense ALAS2 2 81108 2.46585E-5 40554 1 NA
X-55052397-C-T p.Val13Met missense ALAS2 4 81104 4.93194E-5 40552 0 4.61553E-5
X-55052398-T-C p.Pro12Pro synonymous ALAS2 1 81114 1.23283E-5 40557 0 NA
X-55052408-T-G p.Gln9Pro missense ALAS2 3 80972 3.70498E-5 40486 1 2.4653E-5
X-55052417-A-G p.Met6Thr missense ALAS2 2 80786 2.47568E-5 40393 0 NA
X-55052430-C-T p.Val2Met missense ALAS2 2 80420 2.48694E-5 40210 1 NA
X-55052447-T-TCCTGTTGC p.Asp20fs frameshift ALAS2 1 79822 1.25279E-5 39911 0 NA
X-55052449-C-CCGT c.-15-2_-15-1insACG splice_acceptor ALAS2 1 79732 1.2542E-5 39866 0 NA
X-55052451-G-GTTGCC c.-15-4_-15-3insGGCAA splice_region ALAS2 2 79612 2.51218E-5 39806 0 NA
X-55052451-G-GCC c.-15-4_-15-3insGG splice_region ALAS2 1 79612 1.25609E-5 39806 0 NA
X-55052453-A-ACT c.-15-6_-15-5insAG splice_region ALAS2 1 79546 1.25713E-5 39773 0 NA
X-55054179-C-T c.57+5G>A splice_region ALAS2 3 82348 3.64308E-5 41174 0 4.62513E-5
X-55054180-G-A c.57+4C>T splice_region ALAS2 12 82354 1.45712E-4 41177 3 1.9529E-4
X-55054192-A-G p.Phe17Leu missense ALAS2 3 82678 3.62853E-5 41339 1 4.63542E-5
X-55054219-G-A p.Leu8Leu synonymous ALAS2 1 82688 1.20937E-5 41344 0 NA
X-55054222-C-A p.Ala7Ser missense ALAS2 1 82688 1.20937E-5 41344 0 1.14904E-5
X-55054226-C-T p.Glu5Glu synonymous ALAS2 1 82676 1.20954E-5 41338 0 1.14929E-5
X-55054234-C-G p.Gly3Arg missense ALAS2 2 82562 2.42242E-5 41281 0 1.10079E-5
X-55054234-C-T p.Gly3Arg missense ALAS2 2 82562 2.42242E-5 41281 0 6.89806E-5
X-55054238-C-T p.Met1? start_lost ALAS2 272 82474 0.00329801 41237 70 0.00283999
X-55054250-C-T c.-10G>A 5_prime_UTR_premature_start_codon_gain ALAS2 2 82172 2.43392E-5 41086 1 1.15054E-5
X-55054292-T-G c.-50-2A>C splice_acceptor ALAS2 1 79690 1.25486E-5 39845 0 NA
X-55054293-G-GTTGCCCTGC c.-50-4_-50-3insGCAGGGCAA splice_region ALAS2 4 79580 5.02639E-5 39790 2 NA
X-55057393-G-A p.Pro6Ser missense ALAS2 17 54358 3.12741E-4 27179 3 2.88739E-4
X-55057395-C-T p.Arg5His missense ALAS2 1 54270 1.84264E-5 27135 0 4.55133E-5
X-55057396-G-T p.Arg5Ser missense ALAS2 3 54292 5.52568E-5 27146 1 9.10291E-6
X-55057396-G-C p.Arg5Gly missense ALAS2 1 54292 1.84189E-5 27146 0 NA
X-55057399-C-T p.Val4Ile missense ALAS2 1 54246 1.84345E-5 27123 0 1.82066E-5