Genetic mutation | Type of mutation | Homozygous/Heterozygous |
---|---|---|
E35KfsX87 | Frameshift, premature stop codon | Homozygous |
El35GfsX17 | Frameshift, premature stop codon | Heterozygous |
C60S | Missense | Compound heterozygous |
P73L | Missense | Homozygous |
L134Q | Missense | Homozygous |
L172F | Missense | Homozygous |
A183SfsX149 | Frameshift, premature stop codon | Compound heterozygous |
S195_R197dup | In-frame insertion of 3 amino acids, SLR | Compound heterozygous |
L241P | Missense | Compound heterozygous |
L244F | Missense | Compound heterozygous |
N276S | Missense | Homozygous |
Q320X | Nonsense | Homozygous |
L437_L439dup | In-frame insertion of 3 amino acids, LEL | Homozygous |
D440N | Missense | Homozygous |
L497FfsX40 | Frameshift, premature stop codon | Homozygous |
C540R | Missense | Compound heterozygous |