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. 2010 Nov 12;87(5):679–686. doi: 10.1016/j.ajhg.2010.09.018

Table 4.

Mutations in MASP1

Family Chr. Coordinate Variant Wild-Type Reads Variant Reads Effect Genotype of Affected Individuals
1 3 186,953,600 c.2059G>A 0 78 p.G687R Homozygous
2 3 186,970,978 c.870G>A Sanger sequence p.W290X Homozygous