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. 2023 Dec 4;14:8026. doi: 10.1038/s41467-023-43710-4
variant_type variant_location cDNA_change protein_change gnomAD_AF ALS cases (n = 9390) Control (n = 4594) MVP CADD dbSNPid
missense_variant 22:g.45564104G>A c.46G>A p.Asp16Asn 0.000322851 11 2 0.87 26.5 rs200329756
frameshift_variant 22:g.45564091dupATAGGAATTG c.35_45dupATAGGAATTGG p.Asp16fs NA 1 0 NA NA NA
structural 22:g.45564117A>G c.59A>G p.Glu20Gly 4.2e-06 3 0 0.84 26.3 rs1200142847
structural 22:g.45567544C>T c.133C>T p.Arg45Cys 9.68367e-05 9 0 0.89 28.1 rs113634721
missense_variant 22:g.45571835C>T c.214C>T p.Arg72Cys 3.23018e-05 1 0 0.81 23.6 rs781273344
splice_variant 22:g.45574119G>A c.341G>A p.Gly114Asp 0.000419897 3 0 0.73 24.2 rs148003438
missense_variant 22:g.45574245A>G c.467A>G p.Tyr156Cys 2.88367e-05 1 0 0.75 23 rs779406443
missense_variant 22:g.45574601A>G c.823A>G p.Lys275Glu 3.22768e-05 2 0 0.71 23.5 rs753113949
splice_acceptor 22:g.45567480G>C c.70-1G>C NA 3.9-06 1 0 NA 32 rs770658454
missense_variant 22:g.45574313C>G c.535C>G p.Pro179Ala 6.52768e-06 1 0 0.81 22.4 rs763689432
missense_variant 22:g.45580471C>T c.1342C>T p.Arg448Trp 6.52768e-05 1 0 0.91 24 rs777952476