Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-38710583-C-T c.-113C>T 5_prime_UTR_premature_start_codon_gain ALG10B 30763 66752 0.460855 33376 5879 0.560672
12-38710682-C-T c.-14C>T 5_prime_UTR_premature_start_codon_gain ALG10B 2 82486 2.42465E-5 41243 0 1.98847E-4
12-38710699-G-T p.Ala2Ser missense ALG10B 6 82728 7.25268E-5 41364 0 7.00994E-4
12-38710700-C-A p.Ala2Glu missense ALG10B 4 82730 4.83501E-5 41365 0 1.64728E-5
12-38710703-A-C p.Gln3Pro missense ALG10B 2 82808 2.41523E-5 41404 0 6.37633E-5
12-38710710-G-A p.Glu5Glu synonymous ALG10B 1 82938 1.20572E-5 41469 0 NA
12-38710712-G-T p.Gly6Val missense ALG10B 1 82950 1.20555E-5 41475 0 3.97671E-6
12-38710715-AC-A p.Cys8fs frameshift ALG10B 1 82988 1.20499E-5 41494 0 8.23642E-6
12-38710733-T-C p.Leu13Ser missense ALG10B 1 83142 1.20276E-5 41571 0 NA
12-38710742-C-T p.Thr16Ile missense ALG10B 1 83212 1.20175E-5 41606 0 5.0813E-4
12-38710743-C-T p.Thr16Thr synonymous ALG10B 1 83210 1.20178E-5 41605 0 NA
12-38710752-G-A p.Val19Val synonymous ALG10B 1 83236 1.2014E-5 41618 0 6.37511E-5
12-38710763-T-G p.Leu23Arg missense ALG10B 1 83250 1.2012E-5 41625 0 NA
12-38710771-G-C p.Ala26Pro missense ALG10B 80 83240 9.61076E-4 41620 0 0.008125
12-38710778-G-C p.Ser28Thr missense ALG10B 1 83250 1.2012E-5 41625 0 8.23669E-6
12-38710780-C-T p.Arg29Trp missense ALG10B 4 83248 4.80492E-5 41624 0 1.64734E-5
12-38710784-C-A p.Ala30Glu missense ALG10B 1 83254 1.20114E-5 41627 0 1.19318E-5
12-38710790-G-C p.Arg32Pro missense ALG10B 4 83262 4.80411E-5 41631 0 NA
12-38710799-A-G p.Tyr35Cys missense ALG10B 3 83258 3.60326E-5 41629 0 1.2751E-4
12-38710800-C-G p.Tyr35* stop_gained ALG10B 1 83268 1.20094E-5 41634 0 3.97735E-6
12-38710800-C-T p.Tyr35Tyr synonymous ALG10B 1 83268 1.20094E-5 41634 0 8.23683E-6
12-38710801-A-T p.Met36Leu missense ALG10B 24 83256 2.88268E-4 41628 0 1.27277E-4
12-38710801-A-G p.Met36Val missense ALG10B 1 83260 1.20106E-5 41630 0 1.64737E-5
12-38710809-G-T p.Glu38Asp missense ALG10B 1 83232 1.20146E-5 41616 0 3.97801E-6
12-38710809-G-A p.Glu38Glu synonymous ALG10B 1 83232 1.20146E-5 41616 0 NA
12-38710810-A-G p.Ile39Val missense ALG10B 1 83232 1.20146E-5 41616 0 6.38692E-5
12-38710813-T-G p.Phe40Val missense ALG10B 3 83222 3.60482E-5 41611 0 3.97772E-6
12-38710815-C-A p.Phe40Leu missense ALG10B 1 83224 1.20158E-5 41612 0 3.29478E-5
12-38710819-C-T p.Leu42Leu synonymous ALG10B 3361 83058 0.0404657 41529 201 0.071511
12-38710824-T-A p.Pro43Pro synonymous ALG10B 1 83238 1.20137E-5 41619 0 NA
12-38710829-C-T p.Ala45Val missense ALG10B 2 83210 2.40356E-5 41605 0 3.18674E-5
12-38710830-G-A p.Ala45Ala synonymous ALG10B 16 83210 1.92285E-4 41605 0 2.54923E-4
12-38710832-A-G p.Gln46Arg missense ALG10B 1 83214 1.20172E-5 41607 0 NA
12-38710838-A-G p.Tyr48Cys missense+splice_region ALG10B 1 83220 1.20163E-5 41610 0 8.2375E-6
12-38710858-C-T p.Leu55Phe missense ALG10B 1 83172 1.20233E-5 41586 0 8.23913E-6
12-38710870-G-T c.171+4G>T splice_region ALG10B 2 83086 2.40714E-5 41543 0 3.18817E-5
12-38712049-CTTTCATTTTA-C c.172-13_172-4delTTTCATTTTA splice_region ALG10B 300 83330 0.00360014 41665 8 0.00726161
12-38712076-T-C p.Ile62Thr missense ALG10B 3 83360 3.59885E-5 41680 0 3.1839E-5
12-38712083-A-G p.Ile56Val missense ALG10B 1 83372 1.19944E-5 41686 0 1.64734E-5
12-38712098-C-T p.Pro61Ser missense ALG10B 1 83368 1.1995E-5 41684 0 3.97652E-6
12-38712101-G-C p.Gly62Arg missense ALG10B 4 83370 4.79789E-5 41685 0 8.23642E-6
12-38712108-G-A p.Val73Ile missense ALG10B 1 83376 1.19939E-5 41688 0 1.64728E-5
12-38712142-C-G p.Ala84Gly missense ALG10B 80013 81180 0.985625 40590 39490 0.9875
12-38712143-A-G p.Met76Val missense ALG10B 3 83322 3.60049E-5 41661 0 NA
12-38712153-C-T p.His88Tyr missense ALG10B 1 83330 1.20005E-5 41665 0 6.36983E-5
12-38712161-C-T p.Val90Val synonymous ALG10B 1 83324 1.20013E-5 41662 0 8.23655E-6
12-38712169-T-C p.Ile93Thr missense ALG10B 1 83330 1.20005E-5 41665 0 8.23669E-6
12-38712179-C-A p.Leu96Leu synonymous ALG10B 3 83322 3.60049E-5 41661 0 2.47105E-5
12-38712183-T-G p.Phe98Val missense ALG10B 1 83318 1.20022E-5 41659 0 3.1837E-5
12-38712201-A-G p.Ser104Gly missense ALG10B 3 83312 3.60092E-5 41656 0 8.23683E-6
12-38712202-G-A p.Ser104Asn missense ALG10B 1 83304 1.20042E-5 41652 0 NA
12-38712203-T-C p.Ser104Ser synonymous ALG10B 1 83306 1.20039E-5 41653 0 1.59082E-5
12-38712204-G-A p.Val105Ile missense ALG10B 1 83308 1.20036E-5 41654 0 NA
12-38712204-G-T p.Val105Phe missense ALG10B 1 83308 1.20036E-5 41654 0 8.23683E-6
12-38712207-G-A p.Gly106Ser missense ALG10B 7 83290 8.40437E-5 41645 0 NA
12-38712220-T-C p.Leu110Ser missense ALG10B 56 83276 6.72463E-4 41638 0 0.00111458
12-38712224-A-G p.Leu111Leu synonymous ALG10B 2 83290 2.40125E-5 41645 0 3.97719E-6
12-38712226-A-G p.Tyr112Cys missense ALG10B 344 83266 0.00413134 41633 11 0.00914595
12-38712230-G-T p.Leu113Phe missense ALG10B 1 83280 1.20077E-5 41640 0 NA
12-38712240-A-C p.Lys117Gln missense ALG10B 4 83288 4.80261E-5 41644 0 1.64742E-5
12-38712243-G-T p.Val118Leu missense ALG10B 1 83270 1.20091E-5 41635 0 NA
12-38712246-C-T p.Gln119* stop_gained ALG10B 2 83260 2.40211E-5 41630 0 8.75148E-5
12-38712247-A-C p.Gln119Pro missense ALG10B 1 83256 1.20111E-5 41628 0 3.1841E-5
12-38712249-C-T p.Pro120Ser missense ALG10B 1 83246 1.20126E-5 41623 0 3.97807E-6
12-38712251-C-T p.Pro120Pro synonymous ALG10B 15 83222 1.80241E-4 41611 0 7.55876E-5
12-38712260-G-A p.Lys123Lys splice_region+synonymous ALG10B 2 83196 2.40396E-5 41598 0 NA
12-38713960-A-G c.370-3A>G splice_region ALG10B 2 83152 2.40523E-5 41576 0 NA
12-38713962-G-A c.370-1G>A splice_acceptor ALG10B 2 83142 2.40552E-5 41571 0 NA
12-38713967-C-A p.Ala125Asp missense ALG10B 1 83154 1.20259E-5 41577 0 4.96171E-5
12-38713970-C-G p.Ser126* stop_gained ALG10B 9 83152 1.08236E-4 41576 0 3.18532E-4
12-38713978-CAG-C p.Arg130fs frameshift ALG10B 1 83160 1.2025E-5 41580 0 3.18552E-5
12-38713989-G-A p.Leu132Leu synonymous ALG10B 2 83144 2.40547E-5 41572 0 1.91131E-4
12-38713997-T-C p.Leu135Ser missense ALG10B 2 83158 2.40506E-5 41579 0 9.15802E-5
12-38714018-C-T p.Thr142Ile missense ALG10B 3 83152 3.60785E-5 41576 0 1.19494E-5
12-38714034-C-A p.Asn147Lys missense ALG10B 5 83098 6.01699E-5 41549 0 0.00125156
12-38714039-T-TGGTAC p.Tyr150fs frameshift ALG10B 1 83100 1.20337E-5 41550 0 NA
12-38714044-T-G p.Tyr151Asp missense ALG10B 2 83058 2.40796E-5 41529 0 8.26009E-6
12-38714050-G-A p.Glu153Lys missense ALG10B 1 83032 1.20435E-5 41516 0 NA
12-38714064-G-GT p.Thr160fs frameshift ALG10B 1 82978 1.20514E-5 41489 0 NA
12-38714088-G-A p.Leu165Leu synonymous ALG10B 1 82828 1.20732E-5 41414 0 NA
12-38714112-A-C p.Lys173Asn missense ALG10B 1 82714 1.20899E-5 41357 0 NA
12-38714114-C-T p.Thr174Ile missense ALG10B 4 82706 4.83641E-5 41353 0 NA
12-38714128-G-A p.Gly179Arg missense ALG10B 6 82684 7.25654E-5 41342 0 3.18634E-4
12-38714145-G-A p.Met184Ile missense ALG10B 3 82736 3.62599E-5 41368 0 3.18593E-5
12-38714150-G-A p.Arg186Gln missense ALG10B 2 82718 2.41785E-5 41359 0 6.25E-4
12-38714159-A-G p.Asn189Ser missense ALG10B 1 82822 1.20741E-5 41411 0 9.06962E-5
12-38714180-G-C p.Cys196Ser missense ALG10B 3 83058 3.61193E-5 41529 0 NA
12-38714185-G-A p.Gly198Arg missense ALG10B 365 83050 0.00439494 41525 5 0.0100529
12-38714192-T-C p.Val200Ala missense ALG10B 1 83124 1.20302E-5 41562 0 8.24429E-6
12-38714193-C-T p.Val200Val synonymous ALG10B 1 83132 1.20291E-5 41566 0 8.24443E-6
12-38714218-T-C p.Trp209Arg missense ALG10B 1 83198 1.20195E-5 41599 0 NA
12-38714237-A-G p.Lys215Arg missense ALG10B 15 83172 1.80349E-4 41586 0 6.41235E-4
12-38714241-G-C p.Lys216Asn missense ALG10B 12 83144 1.44328E-4 41572 0 1.79264E-4
12-38714242-G-A p.Glu217Lys missense ALG10B 2588 82986 0.031186 41493 67 0.0310589
12-38714243-A-C p.Glu217Ala missense ALG10B 1 83118 1.20311E-5 41559 0 8.25573E-6
12-38714251-C-T p.Leu220Phe missense ALG10B 1 83086 1.20357E-5 41543 0 3.98845E-6
12-38714262-T-G p.Ile223Met missense ALG10B 2 83036 2.40859E-5 41518 0 3.99457E-6
12-38714267-G-T p.Gly225Val missense ALG10B 1 83040 1.20424E-5 41520 0 NA
12-38714270-C-A p.Pro226Gln missense ALG10B 1 83020 1.20453E-5 41510 0 3.99642E-6
12-38714307-G-A p.Leu238Leu synonymous ALG10B 1 83140 1.20279E-5 41570 0 NA
12-38714321-C-T p.Ser243Phe missense ALG10B 2 83240 2.40269E-5 41620 0 3.97877E-6
12-38714330-A-G p.Asn246Ser missense ALG10B 2 83280 2.40154E-5 41640 0 2.38684E-5
12-38714341-C-T p.Leu250Phe missense ALG10B 1 83306 1.20039E-5 41653 0 NA
12-38714345-T-C p.Phe251Ser missense ALG10B 1 83316 1.20025E-5 41658 0 NA
12-38714351-T-G p.Leu253Trp missense ALG10B 470 83292 0.0056428 41646 6 0.0236657
12-38714358-G-T p.Trp255Cys missense ALG10B 2 83328 2.40015E-5 41664 0 1.59106E-5
12-38714361-C-G p.Pro256Pro synonymous ALG10B 3 83324 3.6004E-5 41662 0 8.2375E-6
12-38714374-G-A p.Gly261Arg missense ALG10B 10 83322 1.20016E-4 41661 0 1.56515E-4
12-38714380-C-G p.Leu263Val missense ALG10B 2 83326 2.40021E-5 41663 0 2.38662E-5
12-38714395-G-A p.Val268Ile missense ALG10B 3 83312 3.60092E-5 41656 0 3.18532E-5
12-38714424-C-T p.Gly277Gly synonymous ALG10B 1 83250 1.2012E-5 41625 0 NA
12-38714425-G-A p.Asp278Asn missense ALG10B 2 83250 2.4024E-5 41625 0 3.18634E-5
12-38714426-A-T p.Asp278Val missense ALG10B 1 83244 1.20129E-5 41622 0 NA
12-38714429-G-A p.Arg279Gln missense ALG10B 2 83230 2.40298E-5 41615 0 6.37349E-5
12-38714438-A-AT p.Glu283fs frameshift ALG10B 1 83190 1.20207E-5 41595 0 NA
12-38714443-GC-G p.Cys285fs frameshift ALG10B 5 83170 6.01178E-5 41585 0 4.12167E-5
12-38714463-A-G p.Gln290Gln synonymous ALG10B 1 83154 1.20259E-5 41577 0 NA
12-38714471-ACTTTTTTTCATTTACTCT-A p.Phe297_Ser302del disruptive_inframe_deletion ALG10B 1 83164 1.20244E-5 41582 0 NA
12-38714479-T-C p.Ser296Pro missense ALG10B 1 83190 1.20207E-5 41595 0 NA
12-38714489-T-C p.Leu299Pro missense ALG10B 1 83212 1.20175E-5 41606 0 3.18735E-5
12-38714490-C-CT p.Ser302fs frameshift ALG10B 91 83212 0.00109359 41606 0 0.0026138
12-38714504-C-G p.Pro304Arg missense ALG10B 1 83228 1.20152E-5 41614 0 NA
12-38714509-C-G p.Leu306Val missense ALG10B 58 83230 6.96864E-4 41615 0 0.00108432
12-38714522-G-A p.Ser310Asn missense ALG10B 1 83262 1.20103E-5 41631 0 3.98222E-5
12-38714523-C-A p.Ser310Arg missense ALG10B 1 83254 1.20114E-5 41627 0 5.05051E-4
12-38714524-A-G p.Lys311Glu missense ALG10B 1 83258 1.20109E-5 41629 0 6.59935E-5
12-38714529-TA-T p.Lys313fs frameshift ALG10B 4 83264 4.804E-5 41632 0 3.9813E-6
12-38714537-T-G p.Phe315Cys missense ALG10B 1 83282 1.20074E-5 41641 0 NA
12-38714548-G-T p.Val319Phe missense ALG10B 1 83282 1.20074E-5 41641 0 1.59218E-5
12-38714553-GA-G p.Lys321fs frameshift ALG10B 1 83280 1.20077E-5 41640 0 2.47386E-5
12-38714553-G-A p.Trp320* stop_gained ALG10B 1 83280 1.20077E-5 41640 0 3.98051E-6
12-38714558-A-C p.His322Pro missense ALG10B 1 83286 1.20068E-5 41643 0 NA
12-38714567-T-A p.Leu325Gln missense ALG10B 1 83284 1.20071E-5 41642 0 9.55779E-5
12-38714585-T-C p.Leu331Ser missense ALG10B 1 83246 1.20126E-5 41623 0 NA
12-38714591-C-T p.Ser333Phe missense ALG10B 2 83232 2.40292E-5 41616 0 9.15729E-5
12-38714595-G-GT p.Leu336fs frameshift ALG10B 1 83236 1.2014E-5 41618 0 NA
12-38714599-T-G p.Leu336Val missense ALG10B 1 83228 1.20152E-5 41614 0 1.64951E-5
12-38714600-T-A p.Leu336* stop_gained ALG10B 1 83224 1.20158E-5 41612 0 NA
12-38714601-A-G p.Leu336Leu synonymous ALG10B 1 83224 1.20158E-5 41612 0 3.98219E-6
12-38714613-C-G p.Phe340Leu missense ALG10B 1 83196 1.20198E-5 41598 0 NA
12-38714620-G-C p.Ala343Pro missense ALG10B 1 83186 1.20213E-5 41593 0 3.98473E-6
12-38714637-A-G p.Leu348Leu synonymous ALG10B 1 83154 1.20259E-5 41577 0 NA
12-38714639-C-T p.Ala349Val missense ALG10B 1 83158 1.20253E-5 41579 0 8.26105E-6
12-38714641-G-A p.Asp350Asn missense ALG10B 3 83156 3.60768E-5 41578 0 9.08745E-5
12-38714643-C-G p.Asp350Glu missense ALG10B 1 83148 1.20267E-5 41574 0 3.99489E-6
12-38714643-C-T p.Asp350Asp synonymous ALG10B 1 83148 1.20267E-5 41574 0 3.99489E-6
12-38714644-A-G p.Asn351Asp missense ALG10B 1 83152 1.20262E-5 41576 0 3.18492E-5
12-38714651-A-G p.His353Arg missense ALG10B 61 83128 7.33808E-4 41564 0 0.00165637
12-38714679-T-C p.Val362Val synonymous ALG10B 2 83162 2.40494E-5 41581 0 1.65434E-5
12-38714682-T-C p.Phe363Phe synonymous ALG10B 13 83170 1.56306E-4 41585 0 5.73285E-4
12-38714690-AT-A p.Tyr366fs frameshift ALG10B 1 83186 1.20213E-5 41593 0 NA
12-38714691-T-C p.Tyr366Tyr synonymous ALG10B 1 83188 1.2021E-5 41594 0 8.2728E-6
12-38714694-A-C p.Ala367Ala synonymous ALG10B 1 83194 1.20201E-5 41597 0 3.9924E-6
12-38714705-A-G p.Tyr371Cys missense ALG10B 2 83206 2.40367E-5 41603 0 3.18573E-5
12-38714713-G-T p.Val374Phe missense ALG10B 1 83200 1.20192E-5 41600 0 8.2776E-6
12-38714717-C-T p.Pro375Leu missense ALG10B 1 83200 1.20192E-5 41600 0 NA
12-38714721-C-G p.Ala376Ala synonymous ALG10B 4 83200 4.80769E-5 41600 0 8.27828E-6
12-38714725-A-G p.Ile378Val missense ALG10B 2 83194 2.40402E-5 41597 0 2.39833E-5
12-38714734-G-T p.Gly381Cys missense ALG10B 1 83202 1.20189E-5 41601 0 8.27582E-6
12-38714739-G-A p.Trp382* stop_gained ALG10B 7 83196 8.41387E-5 41598 0 3.18552E-5
12-38714741-G-A p.Ser383Asn missense ALG10B 226 83200 0.00271635 41600 0 0.00742038
12-38714746-G-A p.Ala385Thr missense ALG10B 10 83196 1.20198E-4 41598 0 9.55414E-5
12-38714755-T-C p.Leu388Leu synonymous ALG10B 2 83192 2.40408E-5 41596 0 3.99387E-6
12-38714757-G-T p.Leu388Phe missense ALG10B 1 83190 1.20207E-5 41595 0 3.18512E-5
12-38714767-C-T p.Pro392Ser missense ALG10B 2 83172 2.40466E-5 41586 0 4.96155E-5
12-38714794-A-G p.Ile401Val missense ALG10B 3 83148 3.60802E-5 41574 0 3.30218E-5
12-38714794-A-T p.Ile401Leu missense ALG10B 2 83148 2.40535E-5 41574 0 7.42991E-5
12-38714799-C-A p.Cys402* stop_gained ALG10B 1 83144 1.20273E-5 41572 0 NA
12-38714807-T-C p.Ile405Thr missense ALG10B 5 83152 6.01308E-5 41576 0 6.79104E-5
12-38714813-T-C p.Ile407Thr missense ALG10B 1 83154 1.20259E-5 41577 0 5.04032E-4
12-38714837-T-A p.Phe415Tyr missense ALG10B 1 83168 1.20239E-5 41584 0 3.99214E-6
12-38714839-C-T p.Arg416Cys missense ALG10B 6 83168 7.21431E-5 41584 0 1.23699E-4
12-38714840-G-A p.Arg416His missense ALG10B 5 83164 6.01222E-5 41582 0 3.59055E-5
12-38714844-C-T p.Tyr417Tyr synonymous ALG10B 2 83166 2.40483E-5 41583 0 4.94617E-5
12-38714847-C-A p.Phe418Leu missense ALG10B 1 83168 1.20239E-5 41584 0 NA
12-38714850-T-G p.Ile419Met missense ALG10B 1 83170 1.20236E-5 41585 0 NA
12-38714853-A-C p.Leu420Phe missense ALG10B 14 83160 1.6835E-4 41580 0 2.96765E-4
12-38714861-T-A p.Val423Asp missense ALG10B 7 83162 8.41731E-5 41581 0 1.64848E-5
12-38714881-A-C p.Thr430Pro missense ALG10B 16 83122 1.92488E-4 41561 0 2.1905E-4
12-38714881-ACT-A p.Leu431fs frameshift ALG10B 1 83122 1.20305E-5 41561 0 NA
12-38714888-C-T p.Pro432Leu missense ALG10B 2 83102 2.40668E-5 41551 0 3.18631E-5
12-38714888-C-G p.Pro432Arg missense ALG10B 1 83102 1.20334E-5 41551 0 NA
12-38714904-T-A p.Leu437Leu synonymous ALG10B 2 83028 2.40883E-5 41514 0 3.18431E-5
12-38714904-T-C p.Leu437Leu synonymous ALG10B 2 83026 2.40888E-5 41513 0 3.18431E-5
12-38714905-G-A p.Val438Ile missense ALG10B 1 83026 1.20444E-5 41513 0 3.18492E-5
12-38714914-C-T p.Leu441Leu synonymous ALG10B 4 82976 4.82067E-5 41488 0 3.18451E-5
12-38714919-T-C p.Ser442Ser synonymous ALG10B 1 82954 1.20549E-5 41477 0 1.6488E-5
12-38714921-G-C p.Cys443Ser missense ALG10B 1 82920 1.20598E-5 41460 0 3.18471E-5
12-38714929-A-G p.Ile446Val missense ALG10B 1714 82810 0.020698 41405 32 0.055
12-38714937-T-C p.Asn448Asn synonymous ALG10B 203 82786 0.00245211 41393 2 0.00512739
12-38714942-T-C p.Ile450Thr missense ALG10B 1 82758 1.20834E-5 41379 0 7.99591E-6
12-38714945-C-T p.Thr451Ile missense ALG10B 62 82720 7.49516E-4 41360 0 0.00151057
12-38714952-C-T p.Tyr453Tyr synonymous ALG10B 1 82636 1.21013E-5 41318 0 NA
12-38714964-C-G p.Asn457Lys missense ALG10B 1 82300 1.21507E-5 41150 0 NA
12-38714965-A-C p.Lys458Gln missense ALG10B 1 82252 1.21578E-5 41126 0 2.40751E-5
12-38714980-C-T p.Pro463Ser missense ALG10B 2 81452 2.45543E-5 40726 0 7.22277E-5
12-38714985-TAGTC-T p.Ser465fs frameshift ALG10B 26 81214 3.20142E-4 40607 0 5.09554E-4
12-38714987-G-A p.Ser465Asn missense ALG10B 3 81158 3.69649E-5 40579 0 3.18532E-5
12-38714993-A-G p.Asp467Gly missense ALG10B 2 80800 2.47525E-5 40400 0 4.01529E-6
12-38714993-A-T p.Asp467Val missense ALG10B 1 80800 1.23762E-5 40400 0 NA
12-38714998-C-T p.Gln469* stop_gained ALG10B 1 80350 1.24456E-5 40175 0 NA
12-38715000-A-G p.Gln469Gln synonymous ALG10B 28918 76414 0.378439 38207 5590 0.423387
12-38715002-G-T p.Arg470Met missense ALG10B 3 79994 3.75028E-5 39997 0 NA
12-38715003-G-A p.Arg470Arg synonymous ALG10B 1 79826 1.25272E-5 39913 0 NA
12-38715007-A-G p.Met472Val missense ALG10B 1 79292 1.26116E-5 39646 0 1.66628E-5
12-38717724-T-G p.Ter127Glyext*? stop_lost ALG10B 1 11838 8.44737E-5 5919 0 3.07607E-5
12-38717725-G-A p.Ter127Ter stop_retained ALG10B 1 11842 8.44452E-5 5921 0 9.55536E-5