Table 4.

Summary of known HBSL mutations and their corresponding amino acid change.

Nucleotide change	Amino acid change	Reference(s)
c.536G>A	p.R179K	Ong et al., 2020
c.599C>G	p.S200C	Wolf et al., 2015
c.766A>C	p.M256L	Taft et al., 2013
c.821C>T	p.A274V	Taft et al., 2013
c.830C>T	p.S277F	Wolf et al., 2015
c.839A>T	p.H280L	Wolf et al., 2015
c.1099G>T	p.D367Y	Taft et al., 2013
c.1099G>C	p.D367H	Wolf et al., 2015
c.1277T>C	p.L426S	Wolf et al., 2015
c.1379G>A	p.R460H	Taft et al., 2013
c.1391C>T	p.P464L	Taft et al., 2013
c.1459C>T	p.R487C	Taft et al., 2013
c.1480C>G	p.R494G	Taft et al., 2013; Ong et al., 2020
c.1480C>T	p.R494C	Taft et al., 2013