Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-110603358-C-A p.Thr343Thr synonymous ALX3 1 82860 1.20685E-5 41430 0 1.31044E-4
1-110603362-G-C p.Thr342Ser missense ALX3 2 82902 2.41249E-5 41451 0 1.64992E-5
1-110603378-C-T p.Gly337Ser missense ALX3 3 83044 3.61254E-5 41522 0 6.51508E-5
1-110603379-G-A p.Pro336Pro synonymous ALX3 4 83052 4.81626E-5 41526 0 8.65366E-5
1-110603383-G-A p.Pro335Leu missense ALX3 2 83086 2.40714E-5 41543 0 6.48088E-5
1-110603385-C-T p.Glu334Glu synonymous ALX3 1 83106 1.20328E-5 41553 0 3.24717E-5
1-110603385-C-A p.Glu334Asp missense ALX3 1 83104 1.20331E-5 41552 0 NA
1-110603389-T-G p.Lys333Thr missense ALX3 4 83124 4.81209E-5 41562 0 0.00375
1-110603399-C-T p.Val330Ile missense ALX3 2 83132 2.40581E-5 41566 0 3.40304E-5
1-110603406-C-T p.Ser327Ser synonymous ALX3 1 83102 1.20334E-5 41551 0 1.01547E-4
1-110603406-C-G p.Ser327Ser synonymous ALX3 1 83102 1.20334E-5 41551 0 3.99997E-6
1-110603411-C-T p.Val326Ile missense ALX3 2 83122 2.4061E-5 41561 0 2.52538E-5
1-110603412-G-A p.Leu325Leu synonymous ALX3 4 83128 4.81186E-5 41564 0 0.00125
1-110603424-C-T p.Lys321Lys synonymous ALX3 1 83110 1.20322E-5 41555 0 NA
1-110603428-T-C p.Tyr320Cys missense ALX3 2 83108 2.40651E-5 41554 0 5.84366E-5
1-110603436-A-G p.Asp317Asp synonymous ALX3 2 83094 2.40691E-5 41547 0 3.98581E-6
1-110603455-C-T p.Ser311Asn missense ALX3 1 83002 1.20479E-5 41501 0 NA
1-110603464-C-T p.Gly308Glu missense ALX3 3 82898 3.61891E-5 41449 0 8.3524E-6
1-110603466-C-G p.Leu307Leu synonymous ALX3 1 82902 1.20624E-5 41451 0 1.67098E-5
1-110603472-G-A p.Pro305Pro synonymous ALX3 155 82838 0.00187112 41419 3 0.00427596
1-110603472-G-T p.Pro305Pro synonymous ALX3 1 82842 1.20712E-5 41421 0 NA
1-110603484-A-G p.His301His synonymous ALX3 1 82778 1.20805E-5 41389 0 NA
1-110603485-T-C p.His301Arg missense ALX3 4 82768 4.83279E-5 41384 0 8.39067E-6
1-110603500-C-T p.Gly296Asp missense ALX3 1 82618 1.21039E-5 41309 0 4.0017E-6
1-110603507-G-A p.His294Tyr missense ALX3 2 82544 2.42295E-5 41272 0 NA
1-110603511-C-T p.Ala292Ala synonymous ALX3 3 82374 3.64193E-5 41187 0 1.28343E-4
1-110603512-G-A p.Ala292Val missense ALX3 6 82368 7.28438E-5 41184 0 5.21824E-5
1-110603518-G-C p.Pro290Arg missense ALX3 1 82234 1.21604E-5 41117 0 4.02304E-6
1-110603556-G-A p.Pro277Pro synonymous ALX3 15 79588 1.88471E-4 39794 0 1.33846E-4
1-110603579-A-C p.Cys270Gly missense ALX3 1 77582 1.28896E-5 38791 0 NA
1-110603593-C-T p.Gly265Asp missense ALX3 1 75828 1.31877E-5 37914 0 NA
1-110603604-C-G p.Val261Val synonymous ALX3 1 74302 1.34586E-5 37151 0 NA
1-110603606-C-A p.Val261Leu missense ALX3 1 74036 1.35069E-5 37018 0 0.00125471
1-110603622-A-G p.Pro255Pro synonymous ALX3 1 70802 1.41239E-5 35401 0 NA
1-110603628-C-T p.Gly253Gly synonymous ALX3 2 68962 2.90015E-5 34481 0 NA
1-110603635-C-T p.Gly251Glu missense ALX3 1 67696 1.47719E-5 33848 0 4.22155E-6
1-110603638-G-A p.Pro250Leu missense ALX3 1 67068 1.49102E-5 33534 0 4.74665E-5
1-110603639-G-C p.Pro250Ala missense ALX3 91 66746 0.00136338 33373 0 0.00660569
1-110603650-A-G p.Leu246Pro missense ALX3 1 64060 1.56104E-5 32030 0 0.00153218
1-110603652-G-C p.Ser245Ser synonymous ALX3 5 63500 7.87402E-5 31750 0 1.30501E-5
1-110603653-G-C p.Ser245Cys missense ALX3 1 63172 1.58298E-5 31586 0 NA
1-110603669-AAG-A c.724-8_724-7delCT splice_region ALX3 10 58254 1.71662E-4 29127 0 1.73622E-4
1-110603669-A-G c.724-6T>C splice_region ALX3 1 58254 1.71662E-5 29127 0 NA
1-110604049-G-T c.723+8C>A splice_region ALX3 15 82916 1.80906E-4 41458 0 6.37105E-5
1-110604054-T-C c.723+3A>G splice_region ALX3 1 82996 1.20488E-5 41498 0 3.18431E-5
1-110604076-C-T p.Arg235His missense ALX3 5 83112 6.01598E-5 41556 0 5.03525E-4
1-110604077-G-A p.Arg235Cys missense ALX3 2 83114 2.40633E-5 41557 0 9.55962E-5
1-110604079-G-A p.Pro234Leu missense ALX3 1 83132 1.20291E-5 41566 0 NA
1-110604091-A-C p.Ile230Ser missense ALX3 3 83162 3.60742E-5 41581 0 1.64788E-5
1-110604095-C-T p.Asp229Asn missense ALX3 1 83162 1.20247E-5 41581 0 NA
1-110604097-T-C p.Tyr228Cys missense ALX3 4 83158 4.81012E-5 41579 0 1.64791E-5
1-110604105-C-T p.Thr225Thr synonymous ALX3 16 83148 1.92428E-4 41574 0 1.27429E-4
1-110604106-G-A p.Thr225Met missense ALX3 1 83152 1.20262E-5 41576 0 1.98842E-5
1-110604111-G-A p.Pro223Pro synonymous ALX3 5 83172 6.01164E-5 41586 0 1.64815E-5
1-110604116-T-A p.Asn222Tyr missense ALX3 1 83160 1.2025E-5 41580 0 NA
1-110604118-C-T p.Arg221Gln missense ALX3 12 83172 1.44279E-4 41586 0 5.96521E-5
1-110604119-G-A p.Arg221Trp missense ALX3 2 83152 2.40523E-5 41576 0 4.37473E-5
1-110604142-C-T p.Arg213His missense ALX3 13 83174 1.56299E-4 41587 0 0.001875
1-110604144-C-T p.Glu212Glu synonymous ALX3 1 83166 1.20241E-5 41583 0 7.95444E-6
1-110604149-G-A p.Arg211Cys missense ALX3 3 83124 3.60907E-5 41562 0 3.18715E-5
1-110604153-C-T p.Arg209Arg synonymous ALX3 73 83142 8.78016E-4 41571 0 0.00210258
1-110604155-G-T p.Arg209Arg synonymous ALX3 5 83100 6.01685E-5 41550 0 1.65169E-5
1-110604155-G-A p.Arg209Trp missense ALX3 2 83100 2.40674E-5 41550 0 9.56023E-5
1-110604193-C-T c.595-8G>A splice_region ALX3 1 82658 1.2098E-5 41329 0 NA
1-110607206-C-T c.594+3G>A splice_region ALX3 1 82476 1.21247E-5 41238 0 7.59891E-5
1-110607216-C-T p.Arg196Gln missense ALX3 1 82600 1.21065E-5 41300 0 NA
1-110607231-T-G p.Asp191Ala missense ALX3 1 82786 1.20793E-5 41393 0 NA
1-110607237-C-T p.Arg189His missense ALX3 20 82804 2.41534E-4 41402 0 5.80633E-4
1-110607238-G-A p.Arg189Cys missense ALX3 7 82818 8.45227E-5 41409 0 8.29297E-5
1-110607255-C-T p.Arg183Gln missense ALX3 1 83026 1.20444E-5 41513 0 2.48299E-5
1-110607260-A-T p.Tyr181* stop_gained ALX3 1 83084 1.2036E-5 41542 0 3.18593E-5
1-110607263-C-T p.Val180Val synonymous ALX3 1 83114 1.20317E-5 41557 0 NA
1-110607274-A-G p.Tyr177His missense ALX3 1 83166 1.20241E-5 41583 0 NA
1-110607296-C-T p.Glu169Glu synonymous ALX3 3 83244 3.60386E-5 41622 0 2.47819E-5
1-110607320-G-A p.Ser161Ser synonymous ALX3 1 83246 1.20126E-5 41623 0 8.25614E-6
1-110607322-T-C p.Ser161Gly missense ALX3 1 83260 1.20106E-5 41630 0 NA
1-110607329-C-T p.Thr158Thr synonymous ALX3 1 83256 1.20111E-5 41628 0 3.30229E-5
1-110607330-G-A p.Thr158Met missense ALX3 3 83254 3.60343E-5 41627 0 9.55779E-5
1-110607330-G-C p.Thr158Arg missense ALX3 1 83254 1.20114E-5 41627 0 NA
1-110607333-C-T p.Arg157His missense ALX3 2 83262 2.40206E-5 41631 0 6.37389E-5
1-110607334-G-A p.Arg157Cys missense ALX3 1 83260 1.20106E-5 41630 0 8.25491E-6
1-110607344-C-T p.Lys153Lys synonymous ALX3 1 83270 1.20091E-5 41635 0 7.9557E-6
1-110607353-C-T p.Lys150Lys synonymous ALX3 2 83268 2.40188E-5 41634 0 5.77872E-5
1-110607365-C-T p.Leu146Leu synonymous ALX3 1 83238 1.20137E-5 41619 0 NA
1-110607366-A-C p.Leu146Trp missense ALX3 19 83230 2.28283E-4 41615 0 3.30289E-5
1-110607372-A-G p.Met144Thr missense ALX3 1 83238 1.20137E-5 41619 0 3.18735E-5
1-110607386-T-A p.Gly139Gly synonymous ALX3 1 83202 1.20189E-5 41601 0 NA
1-110607388-C-T p.Gly139Arg missense ALX3 2 83200 2.40385E-5 41600 0 3.97931E-6
1-110607389-C-T p.Pro138Pro synonymous ALX3 50 83192 6.01019E-4 41596 0 0.00302115
1-110607390-G-A p.Pro138Leu missense ALX3 1 83202 1.20189E-5 41601 0 5.78293E-5
1-110607400-G-A p.Pro135Ser missense ALX3 2 83154 2.40518E-5 41577 0 8.26569E-6
1-110607406-G-A p.His133Tyr missense ALX3 6 83094 7.22074E-5 41547 0 5.03525E-4
1-110607410-G-C p.Ser131Arg missense ALX3 5 83048 6.02061E-5 41524 0 1.65832E-5
1-110607411-C-G p.Ser131Thr missense ALX3 2 83046 2.4083E-5 41523 0 NA
1-110607418-G-C p.Leu129Val missense ALX3 1 82532 1.21165E-5 41266 0 NA
1-110607421-A-C p.Cys128Gly missense ALX3 1 82512 1.21194E-5 41256 0 NA
1-110607421-A-T p.Cys128Ser missense ALX3 1 82512 1.21194E-5 41256 0 3.99434E-6
1-110607430-G-C p.Pro125Ala missense ALX3 2 82544 2.42295E-5 41272 0 NA
1-110607435-C-G p.Gly123Ala missense ALX3 1 82322 1.21474E-5 41161 0 NA
1-110607449-G-C p.Pro118Pro synonymous ALX3 10 82372 1.214E-4 41186 0 0.00100705
1-110607451-G-A p.Pro118Ser missense ALX3 1 82290 1.21521E-5 41145 0 8.37858E-6
1-110607455-G-A p.Asp116Asp synonymous ALX3 3 82324 3.64414E-5 41162 0 7.5511E-5
1-110607457-C-G p.Asp116His missense ALX3 9 82330 1.09316E-4 41165 0 1.27551E-4
1-110607459-C-T p.Arg115Lys missense ALX3 3 82332 3.64378E-5 41166 0 1.68373E-5
1-110607460-T-C p.Arg115Gly missense ALX3 1 82340 1.21448E-5 41170 0 NA
1-110607469-C-G p.Gly112Arg missense ALX3 1 82404 1.21353E-5 41202 0 6.37633E-5
1-110607472-G-A p.Arg111* stop_gained ALX3 1 82360 1.21418E-5 41180 0 NA
1-110607478-C-T p.Asp109Asn missense ALX3 1 82404 1.21353E-5 41202 0 NA
1-110607487-G-A p.Leu106Leu synonymous ALX3 1 82452 1.21283E-5 41226 0 NA
1-110607497-G-A p.Ser102Ser synonymous ALX3 2 82398 2.42724E-5 41199 0 1.27518E-4
1-110607497-G-C p.Ser102Arg missense ALX3 1 82398 1.21362E-5 41199 0 NA
1-110607513-GTCT-G p.Lys96del disruptive_inframe_deletion ALX3 3 82028 3.65729E-5 41014 0 3.18735E-5
1-110607517-TCTC-T p.Glu95del conservative_inframe_deletion ALX3 11 81928 1.34264E-4 40964 0 6.38284E-5
1-110607520-C-T p.Glu95Lys missense ALX3 2 81794 2.44517E-5 40897 0 2.92329E-5
1-110607525-G-C p.Ala93Gly missense+splice_region ALX3 2 81636 2.4499E-5 40818 0 NA
1-110607531-A-G c.278-6T>C splice_region ALX3 22 81458 2.70078E-4 40729 0 5.74199E-4
1-110612951-GC-G c.277+6delG splice_region ALX3 2 43826 4.5635E-5 21913 0 NA
1-110612953-G-A c.277+5C>T splice_region ALX3 2 43748 4.57164E-5 21874 0 NA
1-110612954-T-C c.277+4A>G splice_region ALX3 3 43580 6.88389E-5 21790 0 2.83801E-5
1-110612969-C-A p.Gly89Val missense ALX3 1 41510 2.40906E-5 20755 0 NA
1-110612970-C-T p.Gly89Ser missense ALX3 2 41410 4.82975E-5 20705 0 1.55802E-5
1-110612973-C-T p.Glu88Lys missense ALX3 1 41060 2.43546E-5 20530 0 3.21502E-5
1-110612985-C-A p.Gly84Cys missense ALX3 1 39764 2.51484E-5 19882 0 NA
1-110612988-C-G p.Gly83Arg missense ALX3 1 39564 2.52755E-5 19782 0 3.21978E-5
1-110612994-G-T p.Leu81Ile missense ALX3 2 39428 5.07254E-5 19714 0 NA
1-110613002-C-G p.Gly78Ala missense ALX3 1 38640 2.58799E-5 19320 0 3.21564E-5
1-110613003-C-G p.Gly78Arg missense ALX3 3 38486 7.79504E-5 19243 0 4.11716E-4
1-110613003-C-A p.Gly78Cys missense ALX3 1 38486 2.59835E-5 19243 0 5.88166E-5
1-110613004-G-C p.Pro77Pro synonymous ALX3 2 38402 5.20806E-5 19201 0 NA
1-110613015-C-G p.Asp74His missense ALX3 1 37818 2.64424E-5 18909 0 NA
1-110613019-C-T p.Leu72Leu synonymous ALX3 1 37642 2.65661E-5 18821 0 5.13875E-4
1-110613031-G-A p.Pro68Pro synonymous ALX3 1 36702 2.72465E-5 18351 0 0.00154799
1-110613033-G-C p.Pro68Ala missense ALX3 2 36482 5.48216E-5 18241 0 5.68408E-5
1-110613041-G-A p.Ala65Val missense ALX3 1 35984 2.77901E-5 17992 0 3.21875E-5
1-110613053-A-T p.Leu61His missense ALX3 3 35316 8.49473E-5 17658 0 6.49688E-5
1-110613054-G-T p.Leu61Ile missense ALX3 1 35326 2.83078E-5 17663 0 NA
1-110613055-G-A p.Tyr60Tyr synonymous ALX3 13 35274 3.68543E-4 17637 0 4.11335E-4
1-110613059-G-A p.Pro59Leu missense ALX3 1 34980 2.85878E-5 17490 0 NA
1-110613060-G-T p.Pro59Thr missense ALX3 2 34858 5.73756E-5 17429 0 5.41477E-5
1-110613075-A-G p.Cys54Arg missense ALX3 1 34242 2.92039E-5 17121 0 NA
1-110613080-G-A p.Pro52Leu missense ALX3 40 34396 0.00116293 17198 0 0.00319149
1-110613098-G-C p.Pro46Arg missense ALX3 10 34338 2.91223E-4 17169 0 3.24317E-5
1-110613124-G-A p.His37His synonymous ALX3 1 34818 2.87208E-5 17409 0 NA
1-110613126-G-T p.His37Asn missense ALX3 1 34744 2.87819E-5 17372 0 NA
1-110613135-C-T p.Ala34Thr missense ALX3 1 34506 2.89805E-5 17253 0 NA
1-110613154-G-A p.Gly27Gly synonymous ALX3 1 34134 2.92963E-5 17067 0 NA
1-110613156-C-T p.Gly27Ser missense ALX3 1 34062 2.93582E-5 17031 0 NA
1-110613165-C-T p.Glu24Lys missense ALX3 1 33782 2.96016E-5 16891 0 6.58241E-5
1-110613190-G-C p.Pro15Pro synonymous ALX3 1 33686 2.96859E-5 16843 0 3.28386E-5
1-110613190-G-A p.Pro15Pro synonymous ALX3 2 33686 5.93718E-5 16843 0 NA
1-110613216-C-T p.Ala7Thr missense ALX3 2 32438 6.16561E-5 16219 0 3.31433E-5
1-110613223-C-T p.Glu4Glu synonymous ALX3 1 31776 3.14703E-5 15888 0 NA
1-110613227-G-T p.Pro3His missense ALX3 1 31610 3.16356E-5 15805 0 NA
1-110613283-C-A c.-49G>T 5_prime_UTR_premature_start_codon_gain ALX3 1 28732 3.48044E-5 14366 0 NA