Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-139355287-C-G c.-6-5C>G splice_region ABRACL 2 82664 2.41943E-5 41332 0 NA
6-139355288-C-T c.-6-4C>T splice_region ABRACL 3 82670 3.62889E-5 41335 0 4.01345E-6
6-139355288-C-G c.-6-4C>G splice_region ABRACL 1 82670 1.20963E-5 41335 0 NA
6-139355293-C-T c.-5C>T splice_region ABRACL 2 82776 2.41616E-5 41388 0 NA
6-139355293-C-A c.-5C>A splice_region ABRACL 2 82776 2.41616E-5 41388 0 2.48756E-5
6-139355304-G-A p.Val3Met missense ABRACL 19 82850 2.2933E-4 41425 0 2.54696E-4
6-139355312-C-T p.His5His synonymous ABRACL 3 82854 3.62083E-5 41427 0 9.55536E-5
6-139355334-G-A p.Glu13Lys missense ABRACL 5 82804 6.03836E-5 41402 0 3.18532E-5
6-139355343-C-T p.Arg16Cys missense ABRACL 5 82688 6.04683E-5 41344 0 8.01321E-6
6-139355344-G-A p.Arg16His missense ABRACL 2 82662 2.41949E-5 41331 0 1.65659E-5
6-139355347-T-C p.Leu17Ser missense ABRACL 1 82676 1.20954E-5 41338 0 3.18796E-5
6-139355352-T-C p.Ser19Pro missense ABRACL 2 82616 2.42084E-5 41308 0 NA
6-139355358-A-C p.Asn21His missense+splice_region ABRACL 1 82512 1.21194E-5 41256 0 8.28267E-6
6-139355362-A-G p.Lys22Arg missense ABRACL 1 82432 1.21312E-5 41216 0 NA
6-139355367-C-T p.Leu24Leu synonymous ABRACL 2 82294 2.43031E-5 41147 0 0.00125
6-139355376-A-G p.Ile27Val missense ABRACL 2 82002 2.43896E-5 41001 0 1.20207E-5
6-139355379-G-A p.Glu28Lys missense ABRACL 4 81912 4.88329E-5 40956 0 8.29174E-6
6-139355384-T-C p.Tyr29Tyr synonymous ABRACL 1 81654 1.22468E-5 40827 0 9.55171E-5
6-139355393-G-T p.Trp32Cys missense ABRACL 1 81146 1.23235E-5 40573 0 NA
6-139355408-A-G p.Thr37Thr synonymous ABRACL 1 80180 1.24719E-5 40090 0 NA
6-139355415-A-G p.Thr40Ala missense ABRACL 1 79628 1.25584E-5 39814 0 8.02626E-6
6-139355420-C-A p.Gly41Gly synonymous ABRACL 39 79268 4.92002E-4 39634 0 0.00411726
6-139355420-C-T p.Gly41Gly synonymous ABRACL 6 79272 7.56888E-5 39636 0 3.18512E-5
6-139355426-G-A p.Leu43Leu synonymous ABRACL 1 78758 1.26971E-5 39379 0 9.84543E-6
6-139355432-G-A p.Lys45Lys synonymous ABRACL 1 78360 1.27616E-5 39180 0 NA
6-139355433-C-G p.Pro46Ala missense ABRACL 2 78268 2.55532E-5 39134 0 4.06362E-6
6-139355449-C-G p.Pro51Arg missense ABRACL 1 77118 1.29671E-5 38559 0 2.55957E-5
6-139355453-G-A p.Arg52Arg synonymous ABRACL 34 76772 4.4287E-4 38386 0 4.45789E-4
6-139355459-A-G p.Ser54Ser synonymous ABRACL 1 76420 1.30856E-5 38210 0 NA
6-139355462-A-G p.Gly55Gly synonymous ABRACL 1 76212 1.31213E-5 38106 0 NA
6-139355468-G-A p.Arg57Arg synonymous ABRACL 8 75994 1.05271E-4 37997 0 1.59236E-4
6-139355485-A-C p.His63Pro missense ABRACL 3 75016 3.99915E-5 37508 0 6.37064E-5
6-139355711-C-T c.*210C>T splice_region ABRACL 1 43670 2.2899E-5 21835 0 NA
6-139363848-C-T c.62-8C>T splice_region ABRACL 2 83028 2.40883E-5 41514 0 NA
6-139363853-T-C c.62-3T>C splice_region ABRACL 7 83078 8.42582E-5 41539 0 5.01195E-5
6-139363857-T-C p.Asn21Asn splice_region+synonymous ABRACL 3 83118 3.60933E-5 41559 0 6.66833E-5
6-139363873-A-G p.Ser27Gly missense ABRACL 1 83176 1.20227E-5 41588 0 NA
6-139363875-C-T p.Ser27Ser synonymous ABRACL 4 83168 4.80954E-5 41584 0 9.55536E-5
6-139363881-A-G p.Lys29Lys synonymous ABRACL 2 83204 2.40373E-5 41602 0 1.2734E-4
6-139363891-C-T p.Leu33Phe missense ABRACL 1 83222 1.20161E-5 41611 0 1.65725E-5
6-139363900-G-C p.Asp36His missense ABRACL 1 83224 1.20158E-5 41612 0 1.20668E-5
6-139363914-C-T p.Ala40Ala synonymous ABRACL 2 83226 2.4031E-5 41613 0 NA
6-139363917-C-T p.Asn41Asn synonymous ABRACL 1 83228 1.20152E-5 41614 0 NA
6-139363921-T-C p.Phe43Leu missense ABRACL 2 83220 2.40327E-5 41610 0 1.20299E-5
6-139363938-A-T p.Gly48Gly synonymous ABRACL 5 83198 6.00976E-5 41599 0 2.40581E-5
6-139363944-T-C p.Leu50Leu synonymous ABRACL 2 83196 2.40396E-5 41598 0 8.01957E-6
6-139363961-G-A p.Arg56Lys missense ABRACL 1 83146 1.2027E-5 41573 0 NA
6-139363974-A-G p.Thr60Thr synonymous ABRACL 3 83134 3.60863E-5 41567 0 4.14058E-5
6-139363979-CAG-AAA p.ProGly62GlnArg missense ABRACL 2 83108 2.40651E-5 41554 0 NA
6-139363989-G-A p.Leu65Leu synonymous ABRACL 2 83084 2.4072E-5 41542 0 NA
6-139364000-G-A p.Gly69Asp missense ABRACL 3 83076 3.61115E-5 41538 0 8.0371E-6
6-139364002-G-A p.Val70Ile missense ABRACL 2 83080 2.40732E-5 41540 0 1.2078E-5