Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
Y-6734120-C-T c.574-1G>A splice_acceptor AMELY 12 34994 3.42916E-4 17497 6 NA
Y-6736074-T-C c.573+4A>G splice_region AMELY 4 40454 9.88777E-5 20227 2 NA
Y-6736129-A-G p.Asp174Asp synonymous AMELY 2 40918 4.88782E-5 20459 1 8.95736E-5
Y-6736141-G-C p.Pro170Pro synonymous AMELY 4 41096 9.73331E-5 20548 2 7.9321E-5
Y-6736154-C-T p.Arg166Gln missense AMELY 8 41162 1.94354E-4 20581 4 5.8102E-4
Y-6736155-G-A p.Arg166Trp missense AMELY 2 41190 4.85555E-5 20595 1 6.44714E-5
Y-6736199-T-C p.Gln151Arg missense AMELY 2 41482 4.82137E-5 20741 1 NA
Y-6736215-G-A p.Pro146Ser missense AMELY 2 41612 4.80631E-5 20806 1 1.50948E-5
Y-6736245-G-C p.Gln136Glu missense AMELY 2 41776 4.78744E-5 20888 1 4.47341E-5
Y-6736269-A-C p.Phe128Val missense AMELY 2 41916 4.77145E-5 20958 1 NA
Y-6736273-C-T p.Gln126Gln synonymous AMELY 2 41882 4.77532E-5 20941 1 NA
Y-6736288-A-C p.Pro121Pro synonymous AMELY 2 42010 4.76077E-5 21005 1 1.47772E-5
Y-6736312-G-C p.Thr113Thr synonymous AMELY 2 42146 4.74541E-5 21073 1 1.4758E-5
Y-6736357-C-G p.Gln98His missense AMELY 16 42264 3.78573E-4 21132 8 2.38415E-4
Y-6736361-C-T p.Arg97His missense AMELY 2 42246 4.73418E-5 21123 1 1.47543E-5
Y-6736371-G-T p.Pro94Thr missense AMELY 66 42282 0.00156095 21141 33 8.55558E-4
Y-6736417-G-A p.His78His synonymous AMELY 2 42300 4.72813E-5 21150 1 1.47508E-5
Y-6736434-G-C p.Gln73Glu missense AMELY 2 42340 4.72367E-5 21170 1 NA
Y-6736443-C-T p.Val70Met missense AMELY 432 42334 0.0102046 21167 215 0.0234742
Y-6736443-C-A p.Val70Leu missense AMELY 14 42344 3.30625E-4 21172 7 5.96214E-5
Y-6736446-C-T p.Val69Met missense AMELY 2 42360 4.72144E-5 21180 1 NA
Y-6736447-G-C p.Pro68Pro synonymous AMELY 4 42370 9.44064E-5 21185 2 NA
Y-6736473-C-A p.Gly60* stop_gained AMELY 2 42324 4.72545E-5 21162 1 2.9824E-5
Y-6736475-C-T p.Gly59Asp missense AMELY 4 42310 9.45403E-5 21155 2 5.96481E-5
Y-6736485-C-T p.Glu56Lys missense AMELY 4 42216 9.47508E-5 21108 2 2.95286E-5
Y-6736488-A-G p.Tyr55His missense AMELY 2 42196 4.73979E-5 21098 1 2.98401E-5
Y-6736817-C-T p.Val35Met missense+splice_region AMELY 4 42018 9.51973E-5 21009 2 NA
Y-6736910-A-G p.Leu48Ser missense+splice_region AMELY 14 38580 3.62882E-4 19290 7 1.62765E-4
Y-6738043-T-C c.102+4A>G splice_region AMELY 2 42234 4.73552E-5 21117 1 2.98312E-5
Y-6740611-T-G p.Ala13Ala synonymous AMELY 2 42252 4.7335E-5 21126 1 NA
Y-6740613-C-T p.Ala13Thr missense AMELY 4 42248 9.4679E-5 21124 2 5.97907E-5
Y-6740619-C-G p.Val11Leu missense AMELY 2 42256 4.73306E-5 21128 1 NA
Y-6740664-GA-G c.-12-4delT splice_region AMELY 16 42000 3.80952E-4 21000 8 0.0013776