Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-139355287-C-G c.-6-5C>G splice_region ABRACL 2 80454 2.48589E-5 40227 0 NA
6-139355288-C-T c.-6-4C>T splice_region ABRACL 3 80454 3.72884E-5 40227 0 4.01345E-6
6-139355288-C-G c.-6-4C>G splice_region ABRACL 1 80454 1.24295E-5 40227 0 NA
6-139355293-C-T c.-5C>T splice_region ABRACL 2 80536 2.48336E-5 40268 0 NA
6-139355293-C-A c.-5C>A splice_region ABRACL 2 80536 2.48336E-5 40268 0 2.48756E-5
6-139355304-G-A p.Val3Met missense ABRACL 18 80578 2.23386E-4 40289 0 2.54696E-4
6-139355312-C-T p.His5His synonymous ABRACL 3 80580 3.72301E-5 40290 0 9.55536E-5
6-139355334-G-A p.Glu13Lys missense ABRACL 5 80528 6.20902E-5 40264 0 3.18532E-5
6-139355343-C-T p.Arg16Cys missense ABRACL 5 80430 6.21659E-5 40215 0 8.01321E-6
6-139355344-G-A p.Arg16His missense ABRACL 2 80406 2.48738E-5 40203 0 1.65659E-5
6-139355347-T-C p.Leu17Ser missense ABRACL 1 80414 1.24356E-5 40207 0 3.18796E-5
6-139355352-T-C p.Ser19Pro missense ABRACL 2 80366 2.48861E-5 40183 0 NA
6-139355358-A-C p.Asn21His missense+splice_region ABRACL 1 80272 1.24576E-5 40136 0 8.28267E-6
6-139355362-A-G p.Lys22Arg missense ABRACL 1 80200 1.24688E-5 40100 0 NA
6-139355376-A-G p.Ile27Val missense ABRACL 2 79844 2.50488E-5 39922 0 1.20207E-5
6-139355384-T-C p.Tyr29Tyr synonymous ABRACL 1 79536 1.25729E-5 39768 0 9.55171E-5
6-139355393-G-T p.Trp32Cys missense ABRACL 1 79104 1.26416E-5 39552 0 NA
6-139355408-A-G p.Thr37Thr synonymous ABRACL 1 78242 1.27809E-5 39121 0 NA
6-139355415-A-G p.Thr40Ala missense ABRACL 1 77728 1.28654E-5 38864 0 8.02626E-6
6-139355420-C-A p.Gly41Gly synonymous ABRACL 32 77420 4.1333E-4 38710 0 0.00411726
6-139355420-C-T p.Gly41Gly synonymous ABRACL 6 77420 7.74994E-5 38710 0 3.18512E-5
6-139355426-G-A p.Leu43Leu synonymous ABRACL 1 76942 1.29968E-5 38471 0 9.84543E-6
6-139355432-G-A p.Lys45Lys synonymous ABRACL 1 76578 1.30586E-5 38289 0 NA
6-139355433-C-G p.Pro46Ala missense ABRACL 2 76492 2.61465E-5 38246 0 4.06362E-6
6-139355449-C-G p.Pro51Arg missense ABRACL 1 75418 1.32594E-5 37709 0 2.55957E-5
6-139355453-G-A p.Arg52Arg synonymous ABRACL 31 75090 4.12838E-4 37545 0 4.45789E-4
6-139355459-A-G p.Ser54Ser synonymous ABRACL 1 74786 1.33715E-5 37393 0 NA
6-139355462-A-G p.Gly55Gly synonymous ABRACL 1 74600 1.34048E-5 37300 0 NA
6-139355468-G-A p.Arg57Arg synonymous ABRACL 8 74406 1.07518E-4 37203 0 1.59236E-4
6-139355485-A-C p.His63Pro missense ABRACL 3 73578 4.07731E-5 36789 0 6.37064E-5
6-139355711-C-T c.*210C>T splice_region ABRACL 1 44288 2.25795E-5 22144 0 NA
6-139363848-C-T c.62-8C>T splice_region ABRACL 2 80710 2.47801E-5 40355 0 NA
6-139363853-T-C c.62-3T>C splice_region ABRACL 5 80758 6.19134E-5 40379 0 5.01195E-5
6-139363857-T-C p.Asn21Asn splice_region+synonymous ABRACL 2 80796 2.47537E-5 40398 0 6.66833E-5
6-139363873-A-G p.Ser27Gly missense ABRACL 1 80854 1.2368E-5 40427 0 NA
6-139363875-C-T p.Ser27Ser synonymous ABRACL 4 80848 4.94756E-5 40424 0 9.55536E-5
6-139363881-A-G p.Lys29Lys synonymous ABRACL 2 80884 2.47268E-5 40442 0 1.2734E-4
6-139363891-C-T p.Leu33Phe missense ABRACL 1 80900 1.23609E-5 40450 0 1.65725E-5
6-139363900-G-C p.Asp36His missense ABRACL 1 80904 1.23603E-5 40452 0 1.20668E-5
6-139363914-C-T p.Ala40Ala synonymous ABRACL 2 80906 2.472E-5 40453 0 NA
6-139363917-C-T p.Asn41Asn synonymous ABRACL 1 80908 1.23597E-5 40454 0 NA
6-139363921-T-C p.Phe43Leu missense ABRACL 2 80900 2.47219E-5 40450 0 1.20299E-5
6-139363938-A-T p.Gly48Gly synonymous ABRACL 5 80878 6.18215E-5 40439 0 2.40581E-5
6-139363944-T-C p.Leu50Leu synonymous ABRACL 2 80876 2.47292E-5 40438 0 8.01957E-6
6-139363961-G-A p.Arg56Lys missense ABRACL 1 80826 1.23723E-5 40413 0 NA
6-139363974-A-G p.Thr60Thr synonymous ABRACL 3 80814 3.71223E-5 40407 0 4.14058E-5
6-139363979-CAG-AAA p.ProGly62GlnArg missense ABRACL 2 80788 2.47562E-5 40394 0 NA
6-139363989-G-A p.Leu65Leu synonymous ABRACL 2 80764 2.47635E-5 40382 0 NA
6-139364000-G-A p.Gly69Asp missense ABRACL 3 80756 3.71489E-5 40378 0 8.0371E-6
6-139364002-G-A p.Val70Ile missense ABRACL 2 80760 2.47647E-5 40380 0 1.2078E-5