Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-52232705-C-T c.-181C>T 5_prime_UTR_premature_start_codon_gain ALAS1 7 34566 2.02511E-4 17283 0 NA
3-52232749-C-T c.-137C>T 5_prime_UTR_premature_start_codon_gain ALAS1 2 36366 5.49964E-5 18183 0 6.37024E-5
3-52232816-A-G c.-70A>G 5_prime_UTR_premature_start_codon_gain ALAS1 1 37088 2.69629E-5 18544 0 NA
3-52232861-A-G c.-25A>G 5_prime_UTR_premature_start_codon_gain ALAS1 22 37166 5.91939E-4 18583 1 0.00139224
3-52232872-A-G c.-22+8A>G splice_region ALAS1 1 37124 2.69368E-5 18562 0 3.18471E-5
3-52233218-T-G c.-32-8T>G splice_region ALAS1 20 82626 2.42055E-4 41313 0 2.2293E-4
3-52233220-C-G c.-32-6C>G splice_region ALAS1 21 82708 2.53905E-4 41354 0 4.63556E-4
3-52233223-C-A c.-32-3C>A splice_region ALAS1 5 82790 6.03938E-5 41395 0 6.36902E-5
3-52233223-C-T c.-32-3C>T splice_region ALAS1 2 82790 2.41575E-5 41395 0 NA
3-52233228-T-C c.-30T>C splice_region ALAS1 1 82888 1.20645E-5 41444 0 NA
3-52233231-C-T c.-21-6C>T splice_region ALAS1 155 82932 0.001869 41466 0 0.00150919
3-52233252-C-T c.-6C>T 5_prime_UTR_premature_start_codon_gain ALAS1 1 83186 1.20213E-5 41593 0 NA
3-52233262-A-T p.Glu2Val missense ALAS1 1 83232 1.20146E-5 41616 0 8.25777E-6
3-52233264-A-G p.Ser3Gly missense ALAS1 42 83234 5.04602E-4 41617 0 0.0013069
3-52233265-G-A p.Ser3Asn missense ALAS1 5 83252 6.00586E-5 41626 0 5.03525E-4
3-52233270-G-A p.Val5Ile missense ALAS1 1 83282 1.20074E-5 41641 0 1.73267E-4
3-52233272-T-C p.Val5Val synonymous ALAS1 8 83284 9.60569E-5 41642 0 1.59256E-4
3-52233273-C-T p.Arg6Cys missense ALAS1 3 83288 3.60196E-5 41644 0 1.4713E-4
3-52233274-G-A p.Arg6His missense ALAS1 1 83282 1.20074E-5 41641 0 1.64965E-5
3-52233276-C-T p.Arg7Cys missense ALAS1 2 83286 2.40136E-5 41643 0 8.24661E-6
3-52233277-G-A p.Arg7His missense ALAS1 6 83282 7.20444E-5 41641 0 6.25E-4
3-52233278-C-T p.Arg7Arg synonymous ALAS1 2 83296 2.40108E-5 41648 0 3.1839E-5
3-52233281-C-T p.Cys8Cys synonymous ALAS1 4 83300 4.80192E-5 41650 0 4.12188E-5
3-52233284-A-G p.Pro9Pro synonymous ALAS1 11 83310 1.32037E-4 41655 0 2.23015E-4
3-52233288-T-C p.Leu11Leu synonymous ALAS1 1 83318 1.20022E-5 41659 0 3.18492E-5
3-52233295-G-A p.Arg13Gln missense ALAS1 280 83318 0.00336062 41659 1 0.01375
3-52233299-C-A p.Val14Val synonymous ALAS1 1 83346 1.19982E-5 41673 0 NA
3-52233305-G-C p.Gln16His missense ALAS1 20 83344 2.39969E-4 41672 1 6.0525E-4
3-52233335-G-T p.Leu26Leu synonymous ALAS1 1 83336 1.19996E-5 41668 0 NA
3-52233366-A-T p.Met37Leu missense ALAS1 2 83278 2.40159E-5 41639 0 NA
3-52233366-A-C p.Met37Leu missense ALAS1 1 83278 1.2008E-5 41639 0 NA
3-52233366-A-G p.Met37Val missense ALAS1 1 83278 1.2008E-5 41639 0 8.24892E-6
3-52233372-G-A p.Val39Ile missense ALAS1 1 83254 1.20114E-5 41627 0 3.97769E-6
3-52233373-T-C p.Val39Ala missense ALAS1 4 83264 4.804E-5 41632 0 4.95017E-5
3-52233378-G-T p.Ala41Ser missense ALAS1 2 83216 2.40338E-5 41608 0 NA
3-52233382-A-C p.Lys42Thr missense ALAS1 1 83288 1.20065E-5 41644 0 2.4759E-5
3-52233384-C-T p.Pro43Ser missense ALAS1 50 83286 6.00341E-4 41643 0 0.00120973
3-52233387-G-T p.Ala44Ser missense ALAS1 102 83290 0.00122464 41645 0 0.00311963
3-52233387-GC-G p.Pro45fs frameshift ALAS1 2 83298 2.40102E-5 41649 0 NA
3-52233390-C-A p.Pro45Thr missense ALAS1 26 83290 3.12162E-4 41645 0 5.03525E-4
3-52233426-C-G p.Gln57Glu missense ALAS1 2 83208 2.40361E-5 41604 0 1.65382E-5
3-52233433-A-G p.Lys59Arg missense ALAS1 3 83184 3.60646E-5 41592 0 1.65514E-5
3-52233446-G-A p.Pro63Pro synonymous ALAS1 2 83030 2.40877E-5 41515 0 2.39021E-5
3-52233450-A-G p.Ser65Gly missense ALAS1 6 83000 7.22892E-5 41500 0 6.25448E-4
3-52233451-G-T p.Ser65Ile missense ALAS1 1 82976 1.20517E-5 41488 0 NA
3-52233455-GAGTA-G p.Asp68fs frameshift ALAS1 13 82906 1.56804E-4 41453 0 1.59205E-4
3-52233456-A-G p.Lys67Glu missense+splice_region ALAS1 1 82878 1.20659E-5 41439 0 1.19653E-5
3-52236518-C-T c.200-5C>T splice_region ALAS1 2 83304 2.40085E-5 41652 0 NA
3-52236525-G-T p.Asp68Tyr missense+splice_region ALAS1 1 83322 1.20016E-5 41661 0 NA
3-52236532-C-A p.Thr70Asn missense ALAS1 1 83340 1.1999E-5 41670 0 NA
3-52236558-C-G p.Pro79Ala missense ALAS1 1 83336 1.19996E-5 41668 0 NA
3-52236569-C-A p.Ser82Ser synonymous ALAS1 1 83326 1.20011E-5 41663 0 NA
3-52236580-C-G p.Pro86Arg missense ALAS1 31 83318 3.72068E-4 41659 0 9.55536E-4
3-52236587-C-T p.Gly88Gly synonymous ALAS1 2 83300 2.40096E-5 41650 0 NA
3-52236593-G-C p.Gln90His missense ALAS1 4 83284 4.80284E-5 41642 0 9.55536E-5
3-52236593-G-A p.Gln90Gln synonymous ALAS1 1 83284 1.20071E-5 41642 0 NA
3-52236594-C-T p.Leu91Phe missense ALAS1 2 83288 2.40131E-5 41644 0 3.9775E-6
3-52236595-T-C p.Leu91Pro missense ALAS1 2 83282 2.40148E-5 41641 0 3.18593E-5
3-52236598-C-T p.Pro92Leu missense ALAS1 4 83258 4.80434E-5 41629 0 5.03525E-4
3-52236599-G-A p.Pro92Pro synonymous ALAS1 6 83250 7.20721E-5 41625 0 1.98888E-5
3-52236601-C-T p.Ser93Phe missense ALAS1 2 83242 2.40263E-5 41621 0 NA
3-52236602-T-G p.Ser93Ser synonymous ALAS1 1 83238 1.20137E-5 41619 0 NA
3-52236605-A-G p.Gly94Gly synonymous ALAS1 1 83218 1.20166E-5 41609 0 8.25191E-6
3-52236606-C-T p.His95Tyr missense ALAS1 1 83232 1.20146E-5 41616 0 3.18451E-5
3-52236624-A-G p.Ser101Gly missense ALAS1 2 83212 2.4035E-5 41606 0 5.77806E-5
3-52236630-G-A p.Gly103Ser missense ALAS1 5 83202 6.00947E-5 41601 0 9.56023E-5
3-52236648-C-T p.Pro109Ser missense ALAS1 1 83092 1.20349E-5 41546 0 NA
3-52236657-G-A p.Ala112Thr missense ALAS1 2 82984 2.4101E-5 41492 0 NA
3-52236659-A-G p.Ala112Ala synonymous ALAS1 3 82996 3.61463E-5 41498 0 8.26802E-6
3-52236700-C-T p.Ala126Val missense ALAS1 1 81938 1.22043E-5 40969 0 NA
3-52236721-A-T p.Asp133Val missense ALAS1 1 80508 1.24211E-5 40254 0 NA
3-52236731-A-G p.Glu136Glu synonymous ALAS1 19 79480 2.39054E-4 39740 0 0.00100705
3-52236733-T-C p.Met137Thr missense ALAS1 1 79288 1.26122E-5 39644 0 NA
3-52236740-C-T p.Ala139Ala synonymous ALAS1 3 77920 3.8501E-5 38960 0 3.37228E-5
3-52236741-G-T p.Val140Leu missense ALAS1 1 77870 1.28419E-5 38935 0 3.18451E-5
3-52236741-G-A p.Val140Met missense ALAS1 4 77870 5.13677E-5 38935 0 6.76258E-5
3-52236751-G-A c.427+1G>A splice_donor ALAS1 1 75992 1.31593E-5 37996 0 NA
3-52236754-A-G c.427+4A>G splice_region ALAS1 3 75374 3.98015E-5 37687 0 8.5384E-6
3-52237872-G-A c.428-7G>A splice_region ALAS1 1 83128 1.20296E-5 41564 0 4.44559E-6
3-52237876-C-T c.428-3C>T splice_region ALAS1 4 83132 4.81162E-5 41566 0 3.82696E-4
3-52237880-G-A p.Glu143Glu splice_region+synonymous ALAS1 2 83116 2.40628E-5 41558 0 6.36902E-5
3-52237892-C-T p.Thr147Thr synonymous ALAS1 1 83222 1.20161E-5 41611 0 NA
3-52237909-T-A p.Val153Glu missense ALAS1 1 83326 1.20011E-5 41663 0 8.24429E-6
3-52237926-G-A p.Asp159Asn missense ALAS1 2 83352 2.39946E-5 41676 0 3.1841E-5
3-52237928-T-C p.Asp159Asp synonymous ALAS1 25 83366 2.99882E-4 41683 0 6.25E-4
3-52237929-G-A p.Gly160Arg missense ALAS1 2 83366 2.39906E-5 41683 0 3.18431E-5
3-52237930-G-A p.Gly160Glu missense ALAS1 1 83370 1.19947E-5 41685 0 1.1964E-5
3-52237935-G-T p.Asp162Tyr missense ALAS1 1 83372 1.19944E-5 41686 0 8.23818E-6
3-52237947-C-T p.Leu166Leu synonymous ALAS1 2 83380 2.39866E-5 41690 0 1.6475E-5
3-52237963-A-G p.Gln171Arg missense ALAS1 2 83378 2.39871E-5 41689 0 NA
3-52237970-C-T p.Ile173Ile synonymous ALAS1 40859 82552 0.494949 41276 10364 0.484445
3-52237988-A-G p.Pro179Pro synonymous ALAS1 1 83376 1.19939E-5 41688 0 NA
3-52238001-C-T p.His184Tyr missense ALAS1 1 83358 1.19964E-5 41679 0 NA
3-52238011-A-G p.Gln187Arg missense ALAS1 1 83324 1.20013E-5 41662 0 8.26938E-6
3-52238014-A-G p.Asp188Gly missense ALAS1 2 83324 2.40027E-5 41662 0 3.18532E-5
3-52238019-T-C p.Leu190Leu synonymous ALAS1 24 83308 2.88088E-4 41654 0 2.90076E-4
3-52238035-C-T c.577+7C>T splice_region ALAS1 8 83200 9.61538E-5 41600 0 4.16979E-5
3-52238712-T-C p.Val194Ala missense ALAS1 1 83260 1.20106E-5 41630 0 NA
3-52238724-A-G p.Gln198Arg missense ALAS1 2 83300 2.40096E-5 41650 0 1.59253E-5
3-52238751-T-C p.Ile207Thr missense ALAS1 1 83326 1.20011E-5 41663 0 NA
3-52238758-G-T p.Glu209Asp missense ALAS1 1 83322 1.20016E-5 41661 0 8.25641E-6
3-52238765-A-T p.Asn212Tyr missense ALAS1 1 83334 1.19999E-5 41667 0 NA
3-52238778-A-G p.Tyr216Cys missense ALAS1 1 83360 1.19962E-5 41680 0 NA
3-52238793-CTG-C p.Val222fs frameshift ALAS1 1 83362 1.19959E-5 41681 0 8.24063E-6
3-52238805-G-A p.Arg225Gln missense ALAS1 1 83356 1.19967E-5 41678 0 2.47174E-5
3-52238808-C-T p.Ala226Val missense ALAS1 3 83352 3.59919E-5 41676 0 5.03525E-4
3-52238831-G-A p.Asp234Asn missense ALAS1 3 83338 3.5998E-5 41669 0 3.2956E-5
3-52238846-C-T p.Leu239Phe missense ALAS1 1 83324 1.20013E-5 41662 0 NA
3-52238846-C-G p.Leu239Val missense ALAS1 1 83324 1.20013E-5 41662 0 3.97671E-6
3-52238852-A-G p.Thr241Ala missense ALAS1 2 83324 2.40027E-5 41662 0 NA
3-52238857-A-G p.Lys242Lys synonymous ALAS1 1 83314 1.20028E-5 41657 0 7.95323E-6
3-52238861-C-A p.Gln244Lys missense ALAS1 1 83312 1.20031E-5 41656 0 3.18492E-5
3-52238870-G-C p.Val247Leu missense ALAS1 1 83292 1.2006E-5 41646 0 NA
3-52238878-C-T p.Cys249Cys synonymous ALAS1 2 83250 2.4024E-5 41625 0 1.59099E-5
3-52238889-A-G p.Tyr253Cys missense ALAS1 2 83188 2.40419E-5 41594 0 NA
3-52238891-C-T p.Leu254Leu synonymous ALAS1 1 83176 1.20227E-5 41588 0 7.95729E-6
3-52238903-C-T p.Arg258Cys missense ALAS1 2 83066 2.40772E-5 41533 0 1.19421E-5
3-52238905-C-G p.Arg258Arg synonymous ALAS1 1 83028 1.20441E-5 41514 0 NA
3-52238906-C-A p.His259Asn missense ALAS1 1 83032 1.20435E-5 41516 0 NA
3-52238912-C-T p.Arg261Trp missense ALAS1 1 82970 1.20525E-5 41485 0 6.36983E-5
3-52238913-G-A p.Arg261Gln missense ALAS1 1 82952 1.20552E-5 41476 0 3.18532E-5
3-52238915-G-A p.Val262Met missense ALAS1 35 82934 4.22022E-4 41467 2 4.14305E-5
3-52238920-T-C p.Cys263Cys synonymous ALAS1 2 82860 2.41371E-5 41430 0 8.29408E-6
3-52239865-A-C p.Lys271Gln missense ALAS1 1 83342 1.19988E-5 41671 0 NA
3-52239869-A-G p.Gln272Arg missense ALAS1 1 83354 1.1997E-5 41677 0 NA
3-52239893-C-G p.Thr280Ser missense ALAS1 1 83380 1.19933E-5 41690 0 NA
3-52239910-A-G p.Thr286Ala missense ALAS1 1 83388 1.19921E-5 41694 0 3.97735E-6
3-52239921-C-G p.Phe289Leu missense ALAS1 2 83412 2.39774E-5 41706 0 1.59091E-5
3-52239929-A-C p.Asp292Ala missense ALAS1 1 83412 1.19887E-5 41706 0 NA
3-52239930-C-T p.Asp292Asp synonymous ALAS1 1 83412 1.19887E-5 41706 0 8.23642E-6
3-52239937-C-T p.Arg295Trp missense ALAS1 2 83412 2.39774E-5 41706 0 3.18532E-5
3-52239938-G-A p.Arg295Gln missense ALAS1 4 83410 4.79559E-5 41705 0 6.37024E-5
3-52239942-G-A p.Glu296Glu synonymous ALAS1 2 83412 2.39774E-5 41706 0 1.19302E-5
3-52239957-T-C p.His301His synonymous ALAS1 1 83404 1.19898E-5 41702 0 8.23696E-6
3-52239965-A-G p.Asp304Gly missense ALAS1 1 83404 1.19898E-5 41702 0 3.97716E-6
3-52239969-C-T p.Ala305Ala synonymous ALAS1 4 83406 4.79582E-5 41703 0 6.36416E-5
3-52239970-G-A p.Ala306Thr missense ALAS1 13 83404 1.55868E-4 41702 0 6.84294E-4
3-52239972-A-G p.Ala306Ala synonymous ALAS1 2 83402 2.39802E-5 41701 0 8.23778E-6
3-52240001-A-G p.Asn316Ser missense ALAS1 1 83390 1.19918E-5 41695 0 1.59162E-5
3-52240009-A-T p.Thr319Ser missense ALAS1 1 83382 1.1993E-5 41691 0 NA
3-52240014-C-T p.Leu320Leu synonymous ALAS1 3 83378 3.59807E-5 41689 0 1.19989E-5
3-52240023-G-A p.Leu323Leu synonymous ALAS1 4 83348 4.79916E-5 41674 0 0.001875
3-52240025-C-G p.Ala324Gly missense ALAS1 1 83342 1.19988E-5 41671 0 NA
3-52240038-A-C p.Pro328Pro splice_region+synonymous ALAS1 5 83266 6.00485E-5 41633 0 NA
3-52240040-G-GC c.985+1_985+2insC splice_donor ALAS1 1 83250 1.2012E-5 41625 0 NA
3-52240044-G-T c.985+5G>T splice_region ALAS1 22 83212 2.64385E-4 41606 0 5.81569E-4
3-52240583-C-T c.986-5C>T splice_region ALAS1 1 83360 1.19962E-5 41680 0 NA
3-52240585-T-C c.986-3T>C splice_region ALAS1 95 83366 0.00113955 41683 0 7.84504E-4
3-52240604-T-C p.Ser334Ser synonymous ALAS1 8 83396 9.59279E-5 41698 0 6.25E-4
3-52240620-G-T p.Ala340Ser missense ALAS1 10 83412 1.19887E-4 41706 0 1.81216E-4
3-52240622-C-T p.Ala340Ala synonymous ALAS1 2 83412 2.39774E-5 41706 0 1.19311E-5
3-52240626-A-G p.Met342Val missense ALAS1 1 83412 1.19887E-5 41706 0 3.18471E-5
3-52240628-G-A p.Met342Ile missense ALAS1 1 83412 1.19887E-5 41706 0 NA
3-52240631-C-T p.Ile343Ile synonymous ALAS1 9 83414 1.07896E-4 41707 0 5.56731E-5
3-52240651-G-A p.Arg350Gln missense ALAS1 4 83410 4.79559E-5 41705 0 1.27246E-4
3-52240657-C-T p.Pro352Leu missense ALAS1 2 83408 2.39785E-5 41704 0 2.38631E-5
3-52240665-A-G p.Ile355Val missense ALAS1 3 83420 3.59626E-5 41710 0 7.95292E-6
3-52240671-C-T p.Arg357Cys missense ALAS1 2 83422 2.39745E-5 41711 0 3.18674E-5
3-52240692-C-T p.Leu364Phe missense ALAS1 21 83418 2.51744E-4 41709 0 0.00302115
3-52240696-G-A p.Arg365Lys missense ALAS1 1 83422 1.19872E-5 41711 0 NA
3-52240709-A-G p.Gln369Gln synonymous ALAS1 1 83412 1.19887E-5 41706 0 NA
3-52240715-T-C p.Ser371Ser synonymous ALAS1 1 83416 1.19881E-5 41708 0 NA
3-52240740-G-A p.Ala380Thr missense ALAS1 3 83418 3.59635E-5 41709 0 3.18634E-5
3-52240762-T-C p.Met387Thr missense ALAS1 1 83410 1.1989E-5 41705 0 4.12052E-5
3-52240763-G-T p.Met387Ile missense ALAS1 3 83412 3.5966E-5 41706 0 NA
3-52240774-G-A c.1165+7G>A splice_region ALAS1 2 83386 2.39848E-5 41693 0 1.6494E-5
3-52242103-G-A p.Ala390Ala synonymous ALAS1 943 82734 0.011398 41367 32 0.0245353
3-52242130-T-C p.Asp399Asp synonymous ALAS1 1 83186 1.20213E-5 41593 0 3.18431E-5
3-52242134-G-A p.Ala401Thr missense ALAS1 2 83208 2.40361E-5 41604 0 NA
3-52242152-A-G p.Ile407Val missense ALAS1 55 83326 6.60058E-4 41663 1 0.00146515
3-52242160-C-T p.Phe409Phe synonymous ALAS1 1 83346 1.19982E-5 41673 0 1.71083E-5
3-52242175-C-T p.His414His synonymous ALAS1 1 83366 1.19953E-5 41683 0 3.99862E-6
3-52242176-G-T p.Ala415Ser missense ALAS1 1 83376 1.19939E-5 41688 0 3.1841E-5
3-52242181-G-A p.Val416Val synonymous ALAS1 1 83380 1.19933E-5 41690 0 NA
3-52242184-G-A p.Gly417Gly synonymous ALAS1 2 83378 2.39871E-5 41689 0 3.58634E-5
3-52242198-G-A p.Arg422Gln missense ALAS1 4 83394 4.79651E-5 41697 0 6.25E-4
3-52242202-C-T p.Gly423Gly synonymous ALAS1 92 83378 0.00110341 41689 0 0.00165721
3-52242217-T-C p.Asp428Asp synonymous ALAS1 1 83378 1.19936E-5 41689 0 5.04541E-4
3-52242218-C-T p.Arg429Trp missense ALAS1 3 83380 3.59799E-5 41690 0 NA
3-52242219-G-A p.Arg429Gln missense ALAS1 1 83376 1.19939E-5 41688 0 1.1933E-5
3-52242234-C-T p.Pro434Leu missense ALAS1 5 83360 5.99808E-5 41680 0 6.39713E-5
3-52242248-A-G p.Ile439Val missense ALAS1 3 83352 3.59919E-5 41676 0 NA
3-52242249-T-C p.Ile439Thr missense ALAS1 2 83348 2.39958E-5 41674 0 3.18451E-5
3-52245322-G-T p.Gly452Trp missense ALAS1 1 82724 1.20884E-5 41362 0 NA
3-52245330-C-T p.Ile454Ile synonymous ALAS1 1 82780 1.20802E-5 41390 0 3.18532E-5
3-52245331-G-A p.Ala455Thr missense ALAS1 3 82760 3.62494E-5 41380 0 3.18512E-5
3-52245336-C-T p.Ser456Ser synonymous ALAS1 1 82812 1.20755E-5 41406 0 NA
3-52245338-C-T p.Thr457Met missense ALAS1 1 82800 1.20773E-5 41400 0 1.19483E-5
3-52245339-G-A p.Thr457Thr synonymous ALAS1 4 82808 4.83045E-5 41404 0 3.2963E-5
3-52245346-C-T p.Leu460Leu synonymous ALAS1 1 82868 1.20674E-5 41434 0 3.18492E-5
3-52245358-G-A p.Val464Ile missense ALAS1 2 82854 2.41388E-5 41427 0 3.29614E-5
3-52245360-A-G p.Val464Val synonymous ALAS1 1 82896 1.20633E-5 41448 0 NA
3-52245361-C-T p.Arg465Trp missense ALAS1 5 82906 6.03093E-5 41453 0 1.64815E-5
3-52245363-G-C p.Arg465Arg synonymous ALAS1 13 82920 1.56778E-4 41460 0 1.98942E-5
3-52245365-C-T p.Ser466Phe missense ALAS1 1 82940 1.20569E-5 41470 0 NA
3-52245373-G-A p.Ala469Thr missense ALAS1 3 82970 3.61576E-5 41485 0 3.58092E-5
3-52245399-G-T p.Leu477Leu synonymous ALAS1 1 82988 1.20499E-5 41494 0 8.2428E-6
3-52245403-C-T p.Pro479Ser missense ALAS1 5 82974 6.02598E-5 41487 0 2.86496E-4
3-52245409-C-A p.Leu481Met missense ALAS1 1 82964 1.20534E-5 41482 0 NA
3-52245417-T-C p.Ala483Ala synonymous ALAS1 2 82994 2.40981E-5 41497 0 3.18451E-5
3-52245422-C-T p.Ala485Val missense ALAS1 1 82946 1.2056E-5 41473 0 NA
3-52245436-C-T p.Arg490Trp missense ALAS1 3 82940 3.61707E-5 41470 0 3.98016E-5
3-52245437-G-A p.Arg490Gln missense ALAS1 6 82942 7.23397E-5 41471 0 1.97857E-4
3-52245444-G-A p.Leu492Leu synonymous ALAS1 1 82982 1.20508E-5 41491 0 NA
3-52245451-G-A p.Ala495Thr missense ALAS1 1 82942 1.20566E-5 41471 0 2.47231E-5
3-52245460-C-T p.Arg498Trp missense ALAS1 5 82922 6.02976E-5 41461 0 5.03525E-4
3-52245461-G-A p.Arg498Gln missense ALAS1 1 82952 1.20552E-5 41476 0 6.36902E-5
3-52245474-C-T p.Arg502Arg synonymous ALAS1 1 82948 1.20557E-5 41474 0 8.23859E-6
3-52245484-C-G p.Arg506Gly missense ALAS1 4 82962 4.82148E-5 41481 0 7.9564E-6
3-52245485-G-A p.Arg506His missense ALAS1 5 82954 6.02744E-5 41477 0 1.19349E-5
3-52245488-A-G p.Asn507Ser missense ALAS1 1 82982 1.20508E-5 41491 0 7.95551E-6
3-52245489-C-T p.Asn507Asn synonymous ALAS1 2 82978 2.41028E-5 41489 0 6.36983E-5
3-52245490-G-A p.Val508Ile missense ALAS1 1 82972 1.20523E-5 41486 0 1.19345E-5
3-52245496-C-T p.Leu510Phe missense ALAS1 2 83004 2.40952E-5 41502 0 3.18492E-5
3-52245515-T-C p.Met516Thr missense ALAS1 2 82944 2.41127E-5 41472 0 2.4717E-5
3-52245522-C-T p.Ala518Ala synonymous ALAS1 94 82782 0.00113551 41391 0 0.00286624
3-52245523-G-A p.Gly519Ser missense ALAS1 5 82782 6.03996E-5 41391 0 0.00100705
3-52245539-A-G p.His524Arg missense ALAS1 1 82712 1.20901E-5 41356 0 8.25137E-6
3-52245544-C-G p.Pro526Ala missense ALAS1 2 83008 2.40941E-5 41504 0 8.24212E-6
3-52245548-G-C p.Ser527Thr missense ALAS1 1 83032 1.20435E-5 41516 0 NA
3-52245556-A-G p.Ile530Val missense ALAS1 1 83066 1.20386E-5 41533 0 3.98991E-6
3-52245560-C-G p.Pro531Arg missense ALAS1 1 83088 1.20354E-5 41544 0 3.99151E-6
3-52245566-G-A p.Arg533Gln missense+splice_region ALAS1 2 83044 2.40836E-5 41522 0 2.19801E-4
3-52246268-A-C c.1600-6A>C splice_region ALAS1 1 83254 1.20114E-5 41627 0 3.18512E-5
3-52246315-A-G p.Leu547Leu synonymous ALAS1 1 83356 1.19967E-5 41678 0 8.24076E-6
3-52246336-C-T p.Tyr554Tyr synonymous ALAS1 33 83356 3.95892E-4 41678 1 0.00341025
3-52246337-G-A p.Val555Met missense ALAS1 1 83366 1.19953E-5 41683 0 3.29506E-5
3-52246346-A-G p.Ile558Val missense ALAS1 5 83376 5.99693E-5 41688 0 3.18735E-5
3-52246348-C-A p.Ile558Ile synonymous ALAS1 243 83362 0.002915 41681 1 0.00331109
3-52246350-A-G p.Asn559Ser missense ALAS1 2 83376 2.39877E-5 41688 0 2.78348E-5
3-52246357-T-A p.Pro561Pro synonymous ALAS1 5 83366 5.99765E-5 41683 0 6.37796E-5
3-52246360-G-A p.Thr562Thr synonymous ALAS1 1 83360 1.19962E-5 41680 0 9.57182E-5
3-52246364-C-A p.Pro564Thr missense ALAS1 2 83360 2.39923E-5 41680 0 8.23683E-6
3-52246365-C-T p.Pro564Leu missense ALAS1 1 83358 1.19964E-5 41679 0 3.18898E-5
3-52246367-C-T p.Arg565Trp missense ALAS1 1 83360 1.19962E-5 41680 0 3.29473E-5
3-52246368-G-A p.Arg565Gln missense ALAS1 4 83362 4.79835E-5 41681 0 3.29468E-5
3-52246385-C-T p.Arg571Trp missense ALAS1 1 83334 1.19999E-5 41667 0 2.47101E-5
3-52246385-C-G p.Arg571Gly missense ALAS1 1 83334 1.19999E-5 41667 0 NA
3-52246388-A-G p.Ile572Val missense ALAS1 1 83342 1.19988E-5 41671 0 4.9421E-5
3-52246394-C-T p.Pro574Ser missense ALAS1 3 83332 3.60006E-5 41666 0 3.97687E-6
3-52246401-C-T p.Pro576Leu missense ALAS1 1 83330 1.20005E-5 41665 0 6.37227E-5
3-52246412-C-A p.Pro580Thr missense ALAS1 1 83320 1.20019E-5 41660 0 2.47121E-5
3-52246417-G-C p.Gln581His missense ALAS1 5 83314 6.00139E-5 41657 0 1.64756E-5
3-52246424-A-G p.Asn584Asp missense ALAS1 1 83312 1.20031E-5 41656 0 NA
3-52246446-T-A p.Leu91Gln missense ALAS1 1 83276 1.20083E-5 41638 0 3.18674E-5
3-52246461-G-A p.Cys96Tyr missense ALAS1 1 83254 1.20114E-5 41627 0 8.24783E-6
3-52246469-G-T p.Glu99* stop_gained ALAS1 1 83218 1.20166E-5 41609 0 NA
3-52246473-A-T p.Glu100Val missense ALAS1 1 83208 1.20181E-5 41604 0 NA
3-52246478-C-T p.His102Tyr missense ALAS1 2 83162 2.40494E-5 41581 0 NA
3-52246485-C-T p.Ala104Val missense ALAS1 1 83106 1.20328E-5 41553 0 3.19081E-5
3-52246485-C-G p.Ala104Gly missense ALAS1 1 83106 1.20328E-5 41553 0 NA
3-52246506-T-C p.Ile111Thr missense ALAS1 11 82778 1.32886E-4 41389 0 6.71313E-4
3-52246523-C-T p.???117??? splice_region+synonymous ALAS1 3 82072 3.65533E-5 41036 0 NA
3-52248028-C-G c.1763-8C>G splice_region ALAS1 2 83204 2.40373E-5 41602 0 4.00442E-6
3-52248028-C-T c.1763-8C>T splice_region ALAS1 2 83204 2.40373E-5 41602 0 4.00442E-6
3-52248037-G-T p.Glu588Asp missense+splice_region ALAS1 1 83236 1.2014E-5 41618 0 NA
3-52248051-C-T p.Thr593Ile missense ALAS1 1 83320 1.20019E-5 41660 0 NA
3-52248067-G-T p.Gly598Gly synonymous ALAS1 2 83338 2.39987E-5 41669 0 NA
3-52248083-C-CA p.His604fs frameshift ALAS1 1 83344 1.19985E-5 41672 0 NA
3-52248156-A-G p.Tyr628Cys missense ALAS1 2 83166 2.40483E-5 41583 0 8.239E-6
3-52248176-T-G p.Leu635Val missense ALAS1 1 83062 1.20392E-5 41531 0 NA
3-52248178-G-T p.Leu635Phe missense ALAS1 1 83050 1.20409E-5 41525 0 NA
3-52248179-G-A p.Val636Ile missense ALAS1 2 83044 2.40836E-5 41522 0 NA
3-52248181-A-G p.Val636Val synonymous ALAS1 4 83030 4.81754E-5 41515 0 2.47423E-5
3-52248194-T-G p.Ter641Glyext*? stop_lost ALAS1 3 82792 3.62354E-5 41396 0 6.25E-4