Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-85673921-C-T c.-119C>T 5_prime_UTR_premature_start_codon_gain ALX1 3 74956 4.00235E-5 37478 0 3.18756E-5
12-85673930-C-T c.-110C>T 5_prime_UTR_premature_start_codon_gain ALX1 4 76552 5.22521E-5 38276 0 3.19285E-5
12-85673958-C-G c.-82C>G 5_prime_UTR_premature_start_codon_gain ALX1 9 79066 1.13829E-4 39533 0 1.27632E-4
12-85674005-G-C c.-35G>C 5_prime_UTR_premature_start_codon_gain ALX1 1 80860 1.23671E-5 40430 0 NA
12-85674054-C-A p.Ser5Arg missense ALX1 1 82464 1.21265E-5 41232 0 1.70355E-5
12-85674062-T-C p.Phe8Ser missense ALX1 1 82684 1.20942E-5 41342 0 NA
12-85674063-T-C p.Phe8Phe synonymous ALX1 1 82712 1.20901E-5 41356 0 8.48623E-6
12-85674079-C-T p.Pro14Ser missense ALX1 1 83060 1.20395E-5 41530 0 NA
12-85674087-A-G p.Lys16Lys synonymous ALX1 1041 83146 0.0125201 41573 9 0.01375
12-85674091-A-G p.Ser18Gly missense ALX1 2 83186 2.40425E-5 41593 0 3.984E-6
12-85674104-T-C p.Met22Thr missense ALX1 2 83224 2.40315E-5 41612 0 NA
12-85674105-G-A p.Met22Ile missense ALX1 1 83218 1.20166E-5 41609 0 3.98232E-6
12-85674108-C-A p.Gly23Gly synonymous ALX1 1 83206 1.20184E-5 41603 0 NA
12-85674113-G-C p.Gly25Ala missense ALX1 1 83236 1.2014E-5 41618 0 NA
12-85674122-T-A p.Leu28Gln missense ALX1 1 83248 1.20123E-5 41624 0 1.19434E-5
12-85674124-G-C p.Glu29Gln missense ALX1 1 83232 1.20146E-5 41616 0 NA
12-85674140-C-G p.Thr34Arg missense ALX1 1 83224 1.20158E-5 41612 0 1.6634E-5
12-85674142-C-A p.Leu35Met missense ALX1 1 83222 1.20161E-5 41611 0 3.97994E-6
12-85674148-A-G p.Asn37Asp missense ALX1 3 83220 3.6049E-5 41610 0 3.18492E-5
12-85674149-A-G p.Asn37Ser missense ALX1 2 83226 2.4031E-5 41613 0 8.31034E-6
12-85674155-C-G p.Ser39Cys missense ALX1 1 83212 1.20175E-5 41606 0 NA
12-85674164-G-C p.Ser42Thr missense ALX1 4 83182 4.80873E-5 41591 0 1.59246E-4
12-85674164-G-A p.Ser42Asn missense ALX1 2 83182 2.40437E-5 41591 0 NA
12-85674171-G-C p.Ala44Ala synonymous ALX1 1 83162 1.20247E-5 41581 0 NA
12-85674186-C-T p.Cys49Cys synonymous ALX1 3 83060 3.61185E-5 41530 0 8.34376E-6
12-85674187-G-A p.Val50Met missense ALX1 3 83050 3.61228E-5 41525 0 3.98276E-6
12-85674188-T-C p.Val50Ala missense ALX1 5 83046 6.02076E-5 41523 0 4.38142E-5
12-85674189-G-T p.Val50Val synonymous ALX1 6 83038 7.22561E-5 41519 0 1.2738E-4
12-85674191-A-C p.Gln51Pro missense ALX1 11 83034 1.32476E-4 41517 0 3.18573E-4
12-85674202-C-A p.Pro55Thr missense ALX1 1 82886 1.20648E-5 41443 0 3.99042E-6
12-85674211-C-G p.Arg58Gly missense ALX1 1 82754 1.2084E-5 41377 0 1.99827E-5
12-85674221-A-G p.His61Arg missense ALX1 844 82580 0.0102204 41290 6 0.0141129
12-85674225-C-G p.His62Gln missense ALX1 2 82512 2.42389E-5 41256 0 6.37267E-5
12-85674229-C-T p.Arg64Cys missense ALX1 223 82304 0.00270947 41152 0 0.00438048
12-85674229-C-G p.Arg64Gly missense ALX1 3 82318 3.6444E-5 41159 0 3.18674E-5
12-85674229-C-A p.Arg64Ser missense ALX1 1 82318 1.2148E-5 41159 0 NA
12-85674230-G-T p.Arg64Leu missense ALX1 509 82260 0.0061877 41130 2 0.00554435
12-85674230-G-C p.Arg64Pro missense ALX1 2 82290 2.43043E-5 41145 0 NA
12-85674239-G-T p.Arg67Met missense ALX1 4 81972 4.87972E-5 40986 0 1.70835E-5
12-85674241-A-C p.Thr68Pro missense ALX1 2 81446 2.45561E-5 40723 0 NA
12-85674251-G-C p.Cys71Ser missense ALX1 1 81040 1.23396E-5 40520 0 NA
12-85674264-C-T p.Ser75Ser splice_region+synonymous ALX1 2 79978 2.50069E-5 39989 0 0.00101317
12-85674264-C-G p.Ser75Arg missense+splice_region ALX1 1 79978 1.25034E-5 39989 0 NA
12-85674265-G-A p.Val76Met missense+splice_region ALX1 1 80068 1.24894E-5 40034 0 8.22152E-6
12-85674272-C-A c.226+7C>A splice_region ALX1 3 79186 3.78855E-5 39593 0 2.83795E-5
12-85674273-G-T c.226+8G>T splice_region ALX1 1 78966 1.26637E-5 39483 0 9.46916E-6
12-85677361-A-G p.Ile80Val missense ALX1 1 83186 1.20213E-5 41593 0 NA
12-85677369-A-T p.Lys82Asn missense ALX1 1 83194 1.20201E-5 41597 0 NA
12-85677389-A-G p.His89Arg missense ALX1 341 83230 0.00409708 41615 4 0.00904804
12-85677393-C-T p.Thr90Thr synonymous ALX1 1 83222 1.20161E-5 41611 0 3.18512E-5
12-85677398-T-C p.Leu92Pro missense ALX1 1 83238 1.20137E-5 41619 0 NA
12-85677403-A-G p.Arg94Gly missense ALX1 1 83244 1.20129E-5 41622 0 8.23845E-6
12-85677405-A-C p.Arg94Ser missense ALX1 1 83246 1.20126E-5 41623 0 4.284E-4
12-85677409-A-G p.Met96Val missense ALX1 21 83248 2.52258E-4 41624 0 3.18573E-5
12-85677412-G-A p.Asp97Asn missense ALX1 1 83258 1.20109E-5 41629 0 NA
12-85677442-GT-G p.Val107fs frameshift ALX1 2 83292 2.40119E-5 41646 0 NA
12-85677444-G-A p.Val107Val synonymous ALX1 2 83296 2.40108E-5 41648 0 3.18451E-5
12-85677446-A-G p.Lys108Arg missense ALX1 1 83302 1.20045E-5 41651 0 3.97709E-6
12-85677452-T-C p.Met110Thr missense ALX1 1 83304 1.20042E-5 41652 0 9.94273E-5
12-85677452-T-A p.Met110Lys missense ALX1 2 83304 2.40085E-5 41652 0 NA
12-85677457-G-C p.Glu112Gln missense ALX1 1 83304 1.20042E-5 41652 0 NA
12-85677459-G-C p.Glu112Asp missense ALX1 1 83304 1.20042E-5 41652 0 NA
12-85677461-A-G p.Lys113Arg missense ALX1 1 83308 1.20036E-5 41654 0 3.9769E-6
12-85677473-A-T p.Asp117Val missense ALX1 1 83320 1.20019E-5 41660 0 NA
12-85677479-T-G p.Leu119Arg missense ALX1 13 83330 1.56006E-4 41665 0 6.05327E-4
12-85677480-T-A p.Leu119Leu synonymous ALX1 54 83338 6.47964E-4 41669 0 5.09749E-4
12-85677483-G-C p.Gly120Gly synonymous ALX1 8 83332 9.60015E-5 41666 0 3.18593E-5
12-85677500-A-G p.Asn126Ser missense ALX1 1 83360 1.19962E-5 41680 0 6.37064E-5
12-85677516-G-A p.Lys131Lys synonymous ALX1 1 83362 1.19959E-5 41681 0 7.95336E-6
12-85677521-G-A p.Arg133Gln missense ALX1 1 83358 1.19964E-5 41679 0 8.23723E-6
12-85677537-C-T p.Thr138Thr synonymous ALX1 1 83352 1.19973E-5 41676 0 8.23737E-6
12-85677558-G-A p.Glu145Glu synonymous ALX1 2 83322 2.40033E-5 41661 1 2.38614E-5
12-85677573-C-G p.Val150Val synonymous ALX1 2 83306 2.40079E-5 41653 0 8.24076E-6
12-85677585-T-C p.Thr154Thr synonymous ALX1 2 83260 2.40211E-5 41630 0 3.18735E-5
12-85677594-G-A p.Pro157Pro synonymous ALX1 1 83210 1.20178E-5 41605 0 7.95703E-6
12-85677598-G-A p.Val159Met missense ALX1 1 83186 1.20213E-5 41593 0 7.95767E-5
12-85677600-G-A p.Val159Val synonymous ALX1 10 83166 1.20241E-4 41583 0 1.19365E-5
12-85677612-A-C p.Glu163Asp missense ALX1 1 83084 1.2036E-5 41542 0 NA
12-85677621-T-C p.Ala166Ala synonymous ALX1 2 82966 2.41063E-5 41483 0 6.60786E-5
12-85677645-C-T p.Ala174Ala synonymous ALX1 1 82362 1.21415E-5 41181 0 3.18715E-5
12-85680647-G-A p.Arg183Gln missense ALX1 3 82938 3.61716E-5 41469 0 4.02576E-6
12-85680673-C-A p.Arg192Ser missense ALX1 1 83120 1.20308E-5 41560 0 NA
12-85680679-G-A p.Gly194Ser missense ALX1 1 83142 1.20276E-5 41571 0 NA
12-85680695-C-T p.Ala199Val missense ALX1 6 83196 7.21189E-5 41598 0 8.27595E-5
12-85680696-G-A p.Ala199Ala synonymous ALX1 96 83206 0.00115376 41603 0 0.00242564
12-85680703-C-T p.His202Tyr missense ALX1 1 83230 1.20149E-5 41615 0 NA
12-85680729-A-T p.Ser210Ser synonymous ALX1 299 83232 0.00359237 41616 2 0.00724129
12-85680736-C-T p.Pro213Ser missense ALX1 1 83232 1.20146E-5 41616 0 NA
12-85680745-G-A p.Asp216Asn missense ALX1 2 83236 2.40281E-5 41618 0 NA
12-85680746-A-G p.Asp216Gly missense ALX1 1 83232 1.20146E-5 41616 0 NA
12-85694933-A-G p.Ile221Val missense+splice_region ALX1 19 83068 2.28728E-4 41534 0 3.50385E-4
12-85694941-C-A p.Asn223Lys missense ALX1 1 83132 1.20291E-5 41566 0 1.19399E-5
12-85694948-T-A p.Trp226Arg missense ALX1 1 83182 1.20218E-5 41591 0 8.24294E-6
12-85694951-G-A p.Ala227Thr missense ALX1 1 83182 1.20218E-5 41591 0 1.64851E-5
12-85694961-C-G p.Ala230Gly missense ALX1 2 83232 2.40292E-5 41616 0 7.41718E-5
12-85694965-T-A p.Ser231Arg missense ALX1 1 83236 1.2014E-5 41618 0 NA
12-85694969-G-T p.Gly233Cys missense ALX1 5 83240 6.00673E-5 41620 0 6.37227E-5
12-85694986-A-G p.Ser238Ser synonymous ALX1 1 83288 1.20065E-5 41644 0 NA
12-85694990-A-G p.Met240Val missense ALX1 1 83296 1.20054E-5 41648 0 3.97877E-6
12-85694997-C-G p.Pro242Arg missense ALX1 2 83292 2.40119E-5 41646 0 3.18593E-5
12-85695000-G-T p.Arg243Leu missense ALX1 1 83298 1.20051E-5 41649 0 NA
12-85695034-C-T p.His254His synonymous ALX1 1 83326 1.20011E-5 41663 0 NA
12-85695039-C-T p.Pro256Leu missense ALX1 1 83322 1.20016E-5 41661 0 6.37349E-5
12-85695040-T-C p.Pro256Pro synonymous ALX1 1 83324 1.20013E-5 41662 0 NA
12-85695054-G-C p.Ser261Thr missense ALX1 3 83330 3.60014E-5 41665 0 1.64785E-5
12-85695073-C-T p.Asn267Asn synonymous ALX1 2 83326 2.40021E-5 41663 0 6.25E-4
12-85695076-C-T p.His268His synonymous ALX1 1 83322 1.20016E-5 41661 0 8.23818E-6
12-85695101-C-T p.Leu277Phe missense ALX1 1 83314 1.20028E-5 41657 0 3.97776E-6
12-85695135-G-C p.Gly288Ala missense ALX1 1 83284 1.20071E-5 41642 0 NA
12-85695141-C-T p.Thr290Ile missense ALX1 1 83272 1.20088E-5 41636 0 5.03525E-4
12-85695175-T-C p.Phe301Phe synonymous ALX1 1 83256 1.20111E-5 41628 0 NA
12-85695176-G-C p.Glu302Gln missense ALX1 1 83250 1.2012E-5 41625 0 2.38734E-5
12-85695183-G-GGT p.Ser305fs frameshift ALX1 1 83254 1.20114E-5 41627 0 NA
12-85695187-T-A p.Ser305Ser synonymous ALX1 1 83256 1.20111E-5 41628 0 NA
12-85695189-C-A p.Ser306Tyr missense ALX1 1 83254 1.20114E-5 41627 0 NA
12-85695197-G-T p.Ala309Ser missense ALX1 1 83254 1.20114E-5 41627 0 NA
12-85695199-A-G p.Ala309Ala synonymous ALX1 1 83254 1.20114E-5 41627 0 6.36943E-5
12-85695229-C-T p.Thr319Thr synonymous ALX1 3 83238 3.60412E-5 41619 0 2.47664E-5
12-85695245-G-C p.Ala325Pro missense ALX1 1 83200 1.20192E-5 41600 0 3.18451E-5