Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-95448640-T-C p.Ile215Val missense ALG14 1 82828 1.20732E-5 41414 0 NA
1-95448643-G-A p.Arg214* stop_gained ALG14 3 82874 3.61995E-5 41437 0 3.18451E-5
1-95448650-G-A p.Tyr211Tyr synonymous ALG14 3 82944 3.6169E-5 41472 1 5.03525E-4
1-95448652-A-G p.Tyr211His missense ALG14 1 82960 1.2054E-5 41480 0 NA
1-95448657-G-A p.Ser209Leu missense ALG14 1 83016 1.20459E-5 41508 0 6.25E-4
1-95448670-T-A p.Lys205* stop_gained ALG14 1 83120 1.20308E-5 41560 0 NA
1-95448674-T-C p.Lys203Lys synonymous ALG14 3 83136 3.60855E-5 41568 0 1.3129E-4
1-95448678-A-G p.Leu202Pro missense ALG14 1 83152 1.20262E-5 41576 0 NA
1-95448684-G-T p.Pro200Gln missense ALG14 3 83170 3.60707E-5 41585 0 9.55597E-5
1-95448684-G-A p.Pro200Leu missense ALG14 3 83170 3.60707E-5 41585 0 5.03525E-4
1-95448685-G-A p.Pro200Ser missense ALG14 1 83176 1.20227E-5 41588 0 3.97804E-6
1-95448704-A-G p.Asp193Asp synonymous ALG14 2 83220 2.40327E-5 41610 0 3.18451E-5
1-95448705-T-C p.Asp193Gly missense ALG14 1 83218 1.20166E-5 41609 0 NA
1-95448713-A-T p.His190Gln missense ALG14 3 83236 3.60421E-5 41618 0 8.23764E-6
1-95448723-A-G p.Ile187Thr missense ALG14 1 83234 1.20143E-5 41617 0 1.98881E-5
1-95448731-G-A p.Ser184Ser synonymous ALG14 27 83232 3.24394E-4 41616 0 6.25E-4
1-95448734-C-G p.Met183Ile missense ALG14 2 83234 2.40286E-5 41617 0 6.25E-4
1-95448736-T-C p.Met183Val missense ALG14 1 83236 1.2014E-5 41618 0 NA
1-95448737-G-A p.Ser182Ser synonymous ALG14 3 83234 3.6043E-5 41617 0 3.29506E-5
1-95448744-G-A p.Thr180Met missense ALG14 3 83238 3.60412E-5 41619 0 0.00125
1-95448748-C-T p.Glu179Lys missense ALG14 1 83216 1.20169E-5 41608 0 3.97798E-6
1-95448750-A-C p.Val178Gly missense ALG14 10 83202 1.20189E-4 41601 2 NA
1-95448751-C-T p.Val178Ile missense ALG14 10 83210 1.20178E-4 41605 0 7.41412E-5
1-95448753-C-T p.Arg177His missense ALG14 2 83198 2.4039E-5 41599 0 NA
1-95448759-A-T p.Ile175Asn missense ALG14 1 83138 1.20282E-5 41569 0 NA
1-95448760-T-C p.Ile175Val missense ALG14 1 83144 1.20273E-5 41572 0 NA
1-95448770-G-A p.Tyr171Tyr synonymous ALG14 2 83020 2.40906E-5 41510 0 6.25E-4
1-95448780-A-T p.Ile168Asn missense ALG14 1 82854 1.20694E-5 41427 0 NA
1-95448793-T-G p.Ile164Leu missense ALG14 1 82656 1.20983E-5 41328 0 3.98219E-6
1-95448795-C-A p.Gly163Val missense ALG14 1 82638 1.2101E-5 41319 0 3.98289E-6
1-95448830-A-G p.Pro151Pro synonymous ALG14 3 82436 3.63919E-5 41218 0 NA
1-95448842-T-C p.Gly147Gly synonymous ALG14 1 82290 1.21521E-5 41145 0 8.28267E-6
1-95448861-A-C p.Val141Gly missense+splice_region ALG14 4 81910 4.88341E-5 40955 0 8.4995E-5
1-95492682-T-G c.420+3A>C splice_region ALG14 1 83184 1.20215E-5 41592 0 8.32335E-6
1-95492699-C-T p.Val136Met missense ALG14 7 83250 8.40841E-5 41625 0 6.25E-4
1-95492712-G-C p.Pro131Pro synonymous ALG14 2 83302 2.4009E-5 41651 0 NA
1-95492717-A-G p.Phe130Leu missense ALG14 1 83320 1.20019E-5 41660 0 8.24919E-6
1-95492750-C-T p.Val119Ile missense ALG14 1 83338 1.19993E-5 41669 0 8.24158E-5
1-95492751-G-A p.Thr118Thr synonymous ALG14 1 83340 1.1999E-5 41670 0 5.03525E-4
1-95492761-C-T p.Trp115* stop_gained ALG14 1 83328 1.20008E-5 41664 0 1.19319E-5
1-95492764-GA-TT p.Ser114Asn missense ALG14 1 83342 1.19988E-5 41671 0 NA
1-95492777-C-T p.Glu110Lys missense ALG14 2 83340 2.39981E-5 41670 0 3.97735E-6
1-95492779-C-T p.Arg109Gln missense ALG14 9 83338 1.07994E-4 41669 0 9.89169E-5
1-95492779-C-A p.Arg109Leu missense ALG14 1 83338 1.19993E-5 41669 0 0.00100705
1-95492780-G-A p.Arg109Trp missense ALG14 2 83340 2.39981E-5 41670 0 5.56819E-5
1-95492794-C-T p.Arg104Gln missense ALG14 1 83310 1.20034E-5 41655 0 4.12344E-5
1-95492795-G-A p.Arg104* stop_gained ALG14 4 83308 4.80146E-5 41654 0 6.25782E-4
1-95492814-A-G p.Tyr97Tyr splice_region+synonymous ALG14 36 83262 4.3237E-4 41631 1 0.00352467
1-95492819-A-T c.289-3T>A splice_region ALG14 1 83242 1.20132E-5 41621 0 NA
1-95530417-C-A c.288+5G>T splice_region ALG14 3 81998 3.65863E-5 40999 0 4.07219E-6
1-95530433-G-C p.Pro93Ala missense ALG14 1 82322 1.21474E-5 41161 0 6.25E-4
1-95530447-C-T p.Arg88Gln missense ALG14 4 82462 4.85072E-5 41231 0 3.18471E-5
1-95530448-G-A p.Arg88* stop_gained ALG14 1 82470 1.21256E-5 41235 0 3.18613E-5
1-95530450-T-C p.Asp87Gly missense ALG14 1 82496 1.21218E-5 41248 0 NA
1-95530462-G-T p.Ser83Tyr missense ALG14 1 82544 1.21148E-5 41272 0 1.64957E-5
1-95530490-C-T p.Asp74Asn missense ALG14 9 82576 1.08991E-4 41288 0 1.65191E-4
1-95530492-G-C p.Thr73Ser missense ALG14 1 82594 1.21074E-5 41297 0 NA
1-95530525-G-A p.Ala62Val missense ALG14 1 82666 1.20969E-5 41333 0 NA
1-95530528-T-C p.Asn61Ser missense ALG14 33 82666 3.99197E-4 41333 0 5.19559E-4
1-95530529-T-C p.Asn61Asp missense ALG14 3 82674 3.62871E-5 41337 0 9.55231E-5
1-95530531-G-C p.Ser60Cys missense ALG14 8 82696 9.67399E-5 41348 0 8.76976E-5
1-95530537-C-A p.Ser58Ile missense ALG14 1 82722 1.20887E-5 41361 0 3.98807E-6
1-95530539-C-T p.Gly57Gly synonymous ALG14 30 82722 3.6266E-4 41361 0 0.00153246
1-95530547-G-C p.Leu55Val missense ALG14 2 82728 2.41756E-5 41364 0 8.64977E-6
1-95530570-C-A p.Gly47Val missense ALG14 3 82554 3.63399E-5 41277 0 4.90764E-5
1-95530572-A-G p.Gly46Gly splice_region+synonymous ALG14 2 82538 2.42313E-5 41269 0 3.99377E-5
1-95530573-C-CCGGACCCAGCCACTACCAAGATA c.137-1_137insTATCTTGGTAGTGGCTGGGTCCG splice_acceptor ALG14 4 82502 4.84837E-5 41251 2 NA
1-95538318-C-G c.136+1G>C splice_donor ALG14 4 82246 4.86346E-5 41123 0 7.56779E-5
1-95538325-C-T p.Gly44Arg missense ALG14 2 82508 2.42401E-5 41254 0 NA
1-95538342-C-A p.Ser38Ile missense ALG14 217 82696 0.00262407 41348 0 0.00254874
1-95538342-C-T p.Ser38Asn missense ALG14 5 82700 6.04595E-5 41350 0 9.94621E-5
1-95538346-G-A p.Leu37Phe missense ALG14 2 82762 2.41657E-5 41381 0 1.1935E-5
1-95538357-G-A p.Pro33Leu missense ALG14 21 82788 2.5366E-4 41394 1 0.0020141
1-95538369-A-G p.Met29Thr missense ALG14 1 82866 1.20677E-5 41433 0 3.97712E-6
1-95538389-T-C p.Ile22Met missense ALG14 1 82808 1.20761E-5 41404 0 3.97706E-6
1-95538405-A-G p.Phe17Ser missense ALG14 1 82818 1.20747E-5 41409 0 NA
1-95538409-C-T p.Val16Ile missense ALG14 1 82842 1.20712E-5 41421 0 NA
1-95538415-C-T p.Val14Met missense ALG14 21 82856 2.53452E-4 41428 0 8.91663E-4
1-95538419-T-C p.Gly12Gly synonymous ALG14 3 82828 3.62196E-5 41414 0 5.77272E-5
1-95538422-T-C p.Ala11Ala synonymous ALG14 1 82826 1.20735E-5 41413 0 NA
1-95538423-G-A p.Ala11Val missense ALG14 1 82822 1.20741E-5 41411 0 NA
1-95538424-C-T p.Ala11Thr missense ALG14 664 82780 0.00802126 41390 3 0.00812412
1-95538425-G-A p.Ala10Ala synonymous ALG14 1 82804 1.20767E-5 41402 0 NA
1-95538431-A-T p.Ala8Ala synonymous ALG14 1 82804 1.20767E-5 41402 0 8.25232E-6
1-95538436-G-A p.Leu7Leu synonymous ALG14 1 82766 1.20823E-5 41383 0 3.98E-6
1-95538460-G-C c.-6C>G 5_prime_UTR_premature_start_codon_gain ALG14 25 82310 3.0373E-4 41155 0 8.60147E-4
1-95538465-G-A c.-11C>T 5_prime_UTR_premature_start_codon_gain ALG14 1 82034 1.21901E-5 41017 0 1.20061E-5
1-95538474-G-A c.-20C>T 5_prime_UTR_premature_start_codon_gain ALG14 4 81566 4.904E-5 40783 0 8.30124E-6
1-95538485-G-A c.-31C>T 5_prime_UTR_premature_start_codon_gain ALG14 2 81180 2.46366E-5 40590 0 NA