Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-16662563-CTTTTTTT-C n.446_*6delAAAAAAA splice_region SLC35E1 2 3062 6.53168E-4 1531 0 4.18644E-4
19-16664183-C-T c.*307G>A splice_region SLC35E1 1 6934 1.44217E-4 3467 0 3.18451E-5
19-16664491-T-C p.Ter345Trpext*? stop_lost SLC35E1 1 82868 1.20674E-5 41434 0 NA
19-16664498-C-T p.Asp343Asn missense SLC35E1 1 83142 1.20276E-5 41571 0 9.00171E-6
19-16664503-C-T p.Arg341His missense SLC35E1 1 83142 1.20276E-5 41571 0 9.11619E-6
19-16664504-G-A p.Arg341Cys missense SLC35E1 2 83220 2.40327E-5 41610 0 5.38783E-5
19-16664517-C-T p.Ser336Ser synonymous SLC35E1 4 83302 4.80181E-5 41651 0 6.24721E-5
19-16664536-C-T p.Arg330Gln missense SLC35E1 3 83330 3.60014E-5 41665 0 4.0947E-6
19-16664537-G-A p.Arg330Trp missense SLC35E1 3 83324 3.6004E-5 41662 0 1.74444E-5
19-16664544-T-C p.Gln327Gln synonymous SLC35E1 1 83362 1.19959E-5 41681 0 NA
19-16664565-G-A p.Asn320Asn synonymous SLC35E1 1 83372 1.19944E-5 41686 0 NA
19-16664569-T-A p.Asn319Ile missense SLC35E1 2 83358 2.39929E-5 41679 0 NA
19-16664572-C-T p.Arg318His missense SLC35E1 5 83348 5.99894E-5 41674 0 4.00266E-6
19-16664573-G-A p.Arg318Cys missense SLC35E1 4 83348 4.79916E-5 41674 0 3.59612E-5
19-16664576-C-T p.Gly317Ser missense SLC35E1 6 83352 7.19839E-5 41676 0 4.53104E-4
19-16664582-G-C p.Gln315Glu missense SLC35E1 4 83348 4.79916E-5 41674 0 NA
19-16664591-C-T p.Gly312Arg missense SLC35E1 11 83328 1.32008E-4 41664 0 6.77491E-5
19-16664592-G-A p.His311His synonymous SLC35E1 3 83320 3.60058E-5 41660 0 0.00100705
19-16664595-C-T p.Gln310Gln synonymous SLC35E1 4 83322 4.80065E-5 41661 0 6.37308E-5
19-16664612-C-T p.Gly305Ser missense SLC35E1 4 83236 4.80561E-5 41618 0 1.91205E-4
19-16664613-G-A p.Asn304Asn synonymous SLC35E1 2 83248 2.40246E-5 41624 0 2.78674E-5
19-16664614-T-C p.Asn304Ser missense SLC35E1 1 83248 1.20123E-5 41624 0 NA
19-16664618-G-A p.His303Tyr missense SLC35E1 1 83250 1.2012E-5 41625 0 2.47881E-5
19-16664621-G-T p.Pro302Thr missense SLC35E1 1 83216 1.20169E-5 41608 0 3.98102E-6
19-16664635-C-T p.Ser114Asn missense SLC35E1 3 83172 3.60698E-5 41586 1 3.98162E-6
19-16664639-G-A p.Arg113Trp missense SLC35E1 5 83148 6.01337E-5 41574 0 3.18471E-5
19-16664640-G-A p.His112His synonymous SLC35E1 1 83146 1.2027E-5 41573 0 NA
19-16664642-G-A p.His112Tyr missense SLC35E1 3 83164 3.60733E-5 41582 0 1.19495E-5
19-16664644-C-T p.Arg111His missense SLC35E1 2 83146 2.40541E-5 41573 0 1.9002E-4
19-16664645-G-A p.Arg111Cys missense SLC35E1 4 83132 4.81162E-5 41566 0 5.57987E-5
19-16664646-C-A p.Glu110Asp missense SLC35E1 1 83150 1.20265E-5 41575 0 8.26282E-6
19-16664648-C-T p.Glu110Lys missense SLC35E1 1 83142 1.20276E-5 41571 0 8.26269E-6
19-16664656-C-T p.Ser107Asn missense SLC35E1 1 83184 1.20215E-5 41592 0 3.98705E-6
19-16664661-G-A n.510C>T splice_region SLC35E1 4 83204 4.80746E-5 41602 0 5.03525E-4
19-16664664-T-G p.Ala104Ala synonymous SLC35E1 1 83198 1.20195E-5 41599 0 NA
19-16664668-G-A p.Thr103Ile missense SLC35E1 8 83216 9.61354E-5 41608 0 0.005625
19-16664675-C-T p.Val101Ile missense SLC35E1 1 83208 1.20181E-5 41604 0 6.66778E-5
19-16664676-G-A p.Pro100Pro synonymous SLC35E1 3 83218 3.60499E-5 41609 0 1.20041E-5
19-16664679-G-A p.Leu99Leu synonymous SLC35E1 3080 83130 0.0370504 41565 47 0.0359779
19-16664693-T-C p.Arg95Gly missense SLC35E1 5 83184 6.01077E-5 41592 0 5.08397E-5
19-16664712-G-A p.Tyr88Tyr synonymous SLC35E1 7 83092 8.4244E-5 41546 0 0.00125
19-16665980-C-T p.Val80Ile missense SLC35E1 1 83286 1.20068E-5 41643 0 NA
19-16665992-C-T p.Ala76Thr missense SLC35E1 1 83316 1.20025E-5 41658 0 NA
19-16665993-G-A p.Thr75Thr synonymous SLC35E1 1 83324 1.20013E-5 41662 0 1.19309E-5
19-16665993-G-C p.Thr75Thr synonymous SLC35E1 3 83324 3.6004E-5 41662 0 8.23859E-6
19-16666000-A-G p.Met73Thr missense SLC35E1 1 83358 1.19964E-5 41679 0 NA
19-16666010-C-T p.Val70Ile missense SLC35E1 2 83372 2.39889E-5 41686 0 3.18512E-5
19-16666032-G-A p.Arg62Arg synonymous SLC35E1 1 83388 1.19921E-5 41694 0 1.64736E-4
19-16666033-C-T p.Arg62His missense SLC35E1 7 83386 8.39469E-5 41693 0 0.00100705
19-16666036-A-G p.Leu61Pro missense SLC35E1 2 83390 2.39837E-5 41695 0 NA
19-16666050-C-T p.Val56Val synonymous SLC35E1 3 83390 3.59755E-5 41695 0 NA
19-16666053-C-T p.Thr55Thr synonymous SLC35E1 1 83390 1.19918E-5 41695 0 8.23683E-6
19-16666054-G-A p.Thr55Met missense SLC35E1 2 83388 2.39843E-5 41694 0 3.18471E-5
19-16666065-G-A p.Ile51Ile synonymous SLC35E1 2 83398 2.39814E-5 41699 0 NA
19-16666081-T-C p.Asn46Ser missense SLC35E1 22 83388 2.63827E-4 41694 0 0.0020141
19-16666085-C-T p.Ala45Thr missense SLC35E1 1 83388 1.19921E-5 41694 0 1.64737E-5
19-16666086-G-A p.Val44Val synonymous SLC35E1 1 83392 1.19916E-5 41696 0 3.18634E-5
19-16666088-C-T p.Val44Ile missense SLC35E1 1 83388 1.19921E-5 41694 0 8.23683E-6
19-16666089-C-T p.Ser43Ser synonymous SLC35E1 2 83388 2.39843E-5 41694 0 5.03525E-4
19-16666101-G-C p.Pro39Pro synonymous SLC35E1 43460 83184 0.522456 41592 12161 0.635
19-16666101-G-T p.Pro39Pro synonymous SLC35E1 1 83386 1.19924E-5 41693 0 8.23845E-6
19-16666109-C-T p.Val37Ile missense SLC35E1 1 83374 1.19941E-5 41687 0 3.18654E-5
19-16666110-G-A p.Leu36Leu synonymous SLC35E1 6 83372 7.19666E-5 41686 0 7.95267E-5
19-16666114-T-C p.Asn35Ser missense SLC35E1 2 83382 2.3986E-5 41691 0 8.23873E-6
19-16666125-GA-G p.Phe31fs frameshift SLC35E1 1 83362 1.19959E-5 41681 0 NA
19-16666130-C-T p.Ala30Thr missense SLC35E1 1 83350 1.19976E-5 41675 0 3.18552E-5
19-16666131-G-A p.Ile29Ile synonymous SLC35E1 2 83340 2.39981E-5 41670 0 1.19296E-5
19-16666134-A-G p.Val28Val synonymous SLC35E1 1 83340 1.1999E-5 41670 0 1.98823E-5
19-16666138-T-TCACC p.Asn27fs frameshift SLC35E1 1 83332 1.20002E-5 41666 0 NA
19-16666161-G-A n.551C>T splice_region SLC35E1 1 83276 1.20083E-5 41638 0 8.2661E-6
19-16666166-C-CCAGG p.Val18fs frameshift SLC35E1 1 83268 1.20094E-5 41634 0 NA
19-16666169-C-CAGGAGCAGGAG p.Ala17fs frameshift SLC35E1 1 83266 1.20097E-5 41633 0 NA
19-16666169-C-T p.Ala17Thr missense SLC35E1 12 83266 1.44116E-4 41633 0 2.38776E-5
19-16666179-G-A p.Leu13Leu synonymous SLC35E1 4 83238 4.8055E-5 41619 0 3.97899E-6
19-16666182-C-T p.Thr12Thr synonymous SLC35E1 1 83206 1.20184E-5 41603 0 3.18451E-5
19-16666183-G-A p.Thr12Met missense SLC35E1 1 83198 1.20195E-5 41599 0 4.14079E-5
19-16666186-C-G p.Trp11Ser missense SLC35E1 1 83192 1.20204E-5 41596 0 1.65686E-5
19-16666198-T-G p.Tyr7Ser missense SLC35E1 1 83082 1.20363E-5 41541 0 8.31062E-6
19-16666202-C-T p.Val6Ile missense SLC35E1 2 83046 2.4083E-5 41523 0 5.03525E-4
19-16667735-T-C p.Gln3Arg missense+splice_region SLC35E1 6 53512 1.12124E-4 26756 0 6.36943E-5
19-16667746-C-A c.-4G>T 5_prime_UTR_premature_start_codon_gain SLC35E1 3 53556 5.60161E-5 26778 0 5.82615E-5
19-16675842-A-C c.*69+6T>G splice_region SLC35E1 1 51288 1.94977E-5 25644 0 6.3743E-5
19-16675847-C-T c.*69+1G>A splice_donor SLC35E1 2 51448 3.88742E-5 25724 0 NA
19-16675920-T-A p.Leu104Phe missense SLC35E1 1 52238 1.91432E-5 26119 0 7.30887E-6
19-16675925-C-T p.Val103Met missense SLC35E1 1 52240 1.91424E-5 26120 0 7.30535E-6
19-16675933-G-A p.Ser100Leu missense SLC35E1 2 52250 3.82775E-5 26125 0 1.44697E-4
19-16675938-C-T p.Leu98Leu synonymous SLC35E1 368 52244 0.00704387 26122 6 0.0146637
19-16675939-A-T p.Leu98Gln missense SLC35E1 1 52252 1.9138E-5 26126 0 NA
19-16675942-C-A p.Gly97Val missense+splice_region SLC35E1 1 52238 1.91432E-5 26119 0 NA
19-16675947-C-T c.289-4G>A splice_region SLC35E1 1744 52154 0.0334394 26077 30 0.0319414
19-16675948-A-G c.289-5T>C splice_region SLC35E1 1 52214 1.9152E-5 26107 0 NA
19-16677346-G-C p.Asp95Glu missense SLC35E1 2 83074 2.40749E-5 41537 0 8.2511E-6
19-16677349-G-A p.Ser94Ser synonymous SLC35E1 1 83084 1.2036E-5 41542 0 3.18471E-5
19-16677356-A-T p.Val92Asp missense SLC35E1 1 83100 1.20337E-5 41550 0 7.42109E-5
19-16677357-C-A p.Val92Phe missense SLC35E1 1 83108 1.20325E-5 41554 0 NA
19-16677358-C-G p.Leu91Leu synonymous SLC35E1 1 83118 1.20311E-5 41559 0 NA
19-16677367-C-T p.Ser88Ser synonymous SLC35E1 2 83104 2.40662E-5 41552 0 1.64864E-5
19-16677370-G-C p.Leu87Leu synonymous SLC35E1 1 83126 1.20299E-5 41563 0 NA
19-16677371-A-G p.Leu87Pro missense SLC35E1 1 83122 1.20305E-5 41561 0 NA
19-16677376-C-T p.Val85Val synonymous SLC35E1 1 83136 1.20285E-5 41568 0 NA
19-16677400-AAAG-A p.Phe77del disruptive_inframe_deletion SLC35E1 1 83178 1.20224E-5 41589 0 NA
19-16677405-A-C p.Phe76Val missense SLC35E1 1 83166 1.20241E-5 41583 0 3.18492E-5
19-16677408-C-T p.Val75Ile missense SLC35E1 2 83158 2.40506E-5 41579 0 5.03525E-4
19-16677408-C-A p.Val75Phe missense SLC35E1 1 83158 1.20253E-5 41579 0 3.18512E-5
19-16677409-G-A p.Ala74Ala synonymous SLC35E1 14 83150 1.6837E-4 41575 0 3.37827E-4
19-16677411-C-T p.Ala74Thr missense SLC35E1 2 83154 2.40518E-5 41577 0 1.64785E-5
19-16677412-G-A p.His73His synonymous SLC35E1 3 83160 3.6075E-5 41580 0 6.25E-4
19-16677413-T-C p.His73Arg missense SLC35E1 1 83158 1.20253E-5 41579 0 NA
19-16677415-G-A p.Cys72Cys synonymous SLC35E1 1 83136 1.20285E-5 41568 0 8.23968E-6
19-16677416-C-A p.Cys72Phe missense SLC35E1 1 83138 1.20282E-5 41569 0 NA
19-16677452-C-T p.Arg60Gln missense SLC35E1 1 83016 1.20459E-5 41508 0 6.37146E-5
19-16677463-C-T p.Leu56Leu synonymous SLC35E1 1 82902 1.20624E-5 41451 0 NA
19-16677466-G-A p.Val55Val splice_region+synonymous SLC35E1 1 82890 1.20642E-5 41445 0 3.18613E-5
19-16677469-C-CTTTT c.163-2_163-1insAAAA splice_acceptor SLC35E1 1 82836 1.2072E-5 41418 0 NA
19-16677470-T-TTTTTGGAGAAAATGTTCTGAAGCGAGAAGCACAGCGTGGC c.163-3_163-2insGCCACGCTGTGCTTCTCGCTTCAGAACATTTTCTCCAAAA splice_region SLC35E1 2 82842 2.41423E-5 41421 1 NA
19-16677472-G-A c.163-4C>T splice_region SLC35E1 1 82794 1.20782E-5 41397 0 NA
19-16677475-A-G c.163-7T>C splice_region SLC35E1 1 82776 1.20808E-5 41388 0 4.00307E-6
19-16678844-T-C p.Lys54Arg missense+splice_region SLC35E1 1 83222 1.20161E-5 41611 0 4.04413E-6
19-16678867-C-T p.Ser46Ser synonymous SLC35E1 3 83272 3.60265E-5 41636 0 3.18431E-5
19-16678868-G-A p.Ser46Leu missense SLC35E1 1 83284 1.20071E-5 41642 0 NA
19-16678884-C-T p.Ala41Thr missense SLC35E1 1 83262 1.20103E-5 41631 0 8.25655E-6
19-16678885-G-A p.Ala40Ala synonymous SLC35E1 17 83278 2.04136E-4 41639 0 6.25E-4
19-16678888-G-A p.Leu39Leu synonymous SLC35E1 9 83276 1.08074E-4 41638 0 6.37024E-5
19-16678893-C-T p.Ala38Thr missense SLC35E1 1 83256 1.20111E-5 41628 0 1.59515E-5
19-16678894-G-A p.Ser37Ser synonymous SLC35E1 1 83252 1.20117E-5 41626 0 4.78656E-5
19-16678899-C-T p.Val36Ile missense SLC35E1 5 83254 6.00572E-5 41627 0 3.30202E-5
19-16678900-G-A p.Leu35Leu synonymous SLC35E1 2 83248 2.40246E-5 41624 0 3.18532E-5
19-16678911-T-G p.Met32Leu missense SLC35E1 1 83258 1.20109E-5 41629 0 NA
19-16678918-A-G p.Ser29Ser synonymous SLC35E1 1 83244 1.20129E-5 41622 0 3.18532E-5
19-16678932-C-T p.Val25Ile missense SLC35E1 3 83166 3.60724E-5 41583 0 5.04032E-4
19-16678933-G-A p.Thr24Thr synonymous SLC35E1 6 83160 7.21501E-5 41580 0 6.36983E-5
19-16678951-G-A p.Ser18Ser synonymous SLC35E1 2 83118 2.40622E-5 41559 0 5.81579E-5
19-16678956-T-C p.Ile17Val missense SLC35E1 1 83098 1.2034E-5 41549 0 8.33264E-6
19-16678971-A-C p.Ser12Ala missense SLC35E1 1 82910 1.20613E-5 41455 0 NA
19-16678978-T-C p.Val9Val splice_region+synonymous SLC35E1 2 82790 2.41575E-5 41395 0 5.70125E-5
19-16682315-G-A c.24+8C>T splice_region SLC35E1 5 82928 6.02933E-5 41464 0 6.25E-4
19-16682323-C-G p.Lys8Asn missense+splice_region SLC35E1 1 83016 1.20459E-5 41508 0 NA
19-16682361-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain SLC35E1 3 83064 3.61167E-5 41532 0 2.47602E-5
19-16682370-C-T p.Val129Met missense SLC35E1 1 83054 1.20404E-5 41527 0 3.97848E-6
19-16682394-C-CGGTGTGTGCATAGGACACGGGCACCTTCCAGA c.-47-2_-47-1insTCTGGAAGGTGCCCGTGTCCTATGCACACACC splice_acceptor SLC35E1 1 82962 1.20537E-5 41481 0 NA
19-16682394-C-CGGTGTGTGCATAGGACACGGGCACCTTCCAGATGCTGACG c.-47-2_-47-1insCGTCAGCATCTGGAAGGTGCCCGTGTCCTATGCACACACC splice_acceptor SLC35E1 1 82962 1.20537E-5 41481 0 NA
19-16682774-G-A c.-67C>T 5_prime_UTR_premature_start_codon_gain SLC35E1 2 70224 2.84803E-5 35112 0 1.734E-4
19-16682794-C-T p.Val108Ile missense SLC35E1 35 72170 4.84966E-4 36085 0 1.59867E-4
19-16682798-C-A p.Ala106Ala synonymous SLC35E1 6 72312 8.29738E-5 36156 0 NA
19-16682807-G-A c.-100C>T 5_prime_UTR_premature_start_codon_gain SLC35E1 60 72848 8.23633E-4 36424 0 0.00124672
19-16682810-C-T p.Ala102Ala synonymous SLC35E1 1 72892 1.37189E-5 36446 0 NA
19-16682816-G-A p.Tyr100Tyr synonymous SLC35E1 1 73222 1.36571E-5 36611 0 NA
19-16682824-C-A p.Gly98Cys missense SLC35E1 1 73330 1.3637E-5 36665 0 1.42873E-5
19-16682835-G-A p.Pro94Leu missense SLC35E1 1 73424 1.36195E-5 36712 0 7.20025E-6
19-16682836-G-A p.Pro94Ser missense SLC35E1 2 73410 2.72442E-5 36705 0 NA
19-16682837-T-C c.-130A>G 5_prime_UTR_premature_start_codon_gain SLC35E1 2 73396 2.72494E-5 36698 0 1.44544E-5
19-16682842-C-T p.Val92Met missense SLC35E1 1 73398 1.36243E-5 36699 0 2.91762E-5
19-16682853-T-C p.Tyr88Cys missense SLC35E1 2 73188 2.73269E-5 36594 0 NA
19-16682875-G-T p.Pro81Thr missense SLC35E1 1 73076 1.36844E-5 36538 0 NA
19-16682876-G-A p.Gly80Gly synonymous SLC35E1 6 73032 8.21558E-5 36516 0 1.60555E-4
19-16682889-T-C p.His76Arg missense SLC35E1 13 73208 1.77576E-4 36604 0 6.25782E-4
19-16682893-G-T p.Pro75Thr missense SLC35E1 2 73278 2.72933E-5 36639 0 NA
19-16682895-C-G p.Ser74Thr missense SLC35E1 1 73326 1.36377E-5 36663 0 NA
19-16682901-C-T p.Gly72Glu missense SLC35E1 18 73344 2.45419E-4 36672 0 6.27353E-4
19-16682902-C-G p.Gly72Arg missense SLC35E1 2 73380 2.72554E-5 36690 0 NA
19-16682902-C-T p.Gly72Arg missense SLC35E1 1 73380 1.36277E-5 36690 0 0.00125471
19-16682906-G-A p.Gly70Gly synonymous SLC35E1 1 73418 1.36206E-5 36709 0 5.39811E-5
19-16682908-C-T p.Gly70Ser missense SLC35E1 1 73578 1.3591E-5 36789 0 1.83878E-5
19-16682915-G-C p.Pro67Pro synonymous SLC35E1 2 74008 2.70241E-5 37004 0 2.82013E-5
19-16682915-G-T p.Pro67Pro synonymous SLC35E1 1 74008 1.35121E-5 37004 0 NA
19-16682918-C-A p.Pro66Pro synonymous SLC35E1 1 73982 1.35168E-5 36991 0 3.71713E-5
19-16682923-C-CG p.Ala65fs frameshift SLC35E1 1 74194 1.34782E-5 37097 0 1.84573E-5
19-16682929-G-A p.Pro63Ser missense SLC35E1 1 74546 1.34145E-5 37273 0 NA
19-16682930-C-A p.Val62Val synonymous SLC35E1 1 74478 1.34268E-5 37239 0 9.06733E-6
19-16682959-G-A p.Leu53Phe missense SLC35E1 1 75276 1.32844E-5 37638 0 NA
19-16682969-C-T c.-262G>A 5_prime_UTR_premature_start_codon_gain SLC35E1 3 75758 3.95998E-5 37879 0 6.87096E-5
19-16682977-G-C p.Leu47Val missense SLC35E1 1 76092 1.3142E-5 38046 0 NA
19-16683035-GACC-G p.Val27del disruptive_inframe_deletion SLC35E1 1 76010 1.31562E-5 38005 0 NA
19-16683037-C-T p.Val27Ile missense SLC35E1 1 75958 1.31652E-5 37979 0 2.25832E-5
19-16683038-C-T p.Val26Val synonymous SLC35E1 1 75940 1.31683E-5 37970 0 NA
19-16683061-C-A p.Ala19Ser missense SLC35E1 1 75508 1.32436E-5 37754 0 7.87055E-6
19-16683073-G-A p.Leu15Leu synonymous SLC35E1 2 75318 2.65541E-5 37659 0 1.72188E-4
19-16683079-G-C p.Leu13Val missense SLC35E1 1 75082 1.33188E-5 37541 0 7.06314E-5
19-16683089-CCGCGCGCCCT-C p.Glu6fs frameshift SLC35E1 1 74490 1.34246E-5 37245 0 NA
19-16683093-G-A p.Ala8Val missense SLC35E1 8 74178 1.07849E-4 37089 0 7.33999E-5
19-16683106-C-T p.Ala4Thr missense SLC35E1 2 72860 2.74499E-5 36430 0 NA
19-16683111-C-G p.Gly2Ala missense SLC35E1 1 72504 1.37923E-5 36252 0 NA
19-16683112-C-G p.Gly2Arg missense SLC35E1 1 72402 1.38118E-5 36201 0 NA
19-16683115-T-G p.Ser1Arg missense SLC35E1 1 71466 1.39927E-5 35733 0 NA
19-16683116-G-A p.Ser20Ser synonymous SLC35E1 1 71286 1.4028E-5 35643 0 NA
19-16683127-C-T p.Ala17Thr missense SLC35E1 35 62866 5.5674E-4 31433 0 0.00139665
19-16683128-G-T p.Gly16Gly synonymous SLC35E1 1 62576 1.59806E-5 31288 0 4.4338E-5
19-16683129-C-T p.Gly16Asp missense SLC35E1 1 62316 1.60472E-5 31158 0 NA
19-16683131-C-T p.Pro15Pro synonymous SLC35E1 2 61674 3.24286E-5 30837 0 NA
19-16683133-G-A p.Pro15Ser missense SLC35E1 4 60966 6.56103E-5 30483 0 NA
19-16683136-C-T p.Gly14Ser missense SLC35E1 1 59956 1.66789E-5 29978 0 NA
19-16683143-G-A p.Gly11Gly synonymous SLC35E1 2 56288 3.55316E-5 28144 0 NA
19-16683145-C-G p.Gly11Arg missense SLC35E1 1 55494 1.802E-5 27747 0 NA
19-16683152-C-G p.Ala8Ala synonymous SLC35E1 1 52232 1.91454E-5 26116 0 NA
19-16683157-C-G p.Gly7Arg missense SLC35E1 1 49946 2.00216E-5 24973 0 NA
19-16683159-ACCGCGGCCG-A p.Ala3_Ala5del disruptive_inframe_deletion SLC35E1 1 48634 2.05617E-5 24317 0 NA
19-16683164-G-T p.Ala4Ala synonymous SLC35E1 3 44732 6.70661E-5 22366 0 NA
19-16683165-G-A p.Ala4Val missense SLC35E1 1 43406 2.30383E-5 21703 0 NA
19-16683182-C-A c.-7G>T 5_prime_UTR_premature_start_codon_gain SLC35E1 16 30214 5.29556E-4 15107 0 0.00133809
19-16683183-G-C c.-8C>G 5_prime_UTR_premature_start_codon_gain SLC35E1 2 29278 6.83107E-5 14639 0 NA
19-16683187-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain SLC35E1 1 25706 3.89014E-5 12853 0 3.75996E-5