Table 1 Gene Variants in our Cohort and Frequencies in the East Asian Population

215

HPS1

c.9delC

p.Cys3Trpfs*26

N/R

c.9delC

p.Cys3Trpfs*26

N/R

351

HPS3

c.1555_1595dup p.Leu533Phefs*10

0.0001160 (gnomAD)

c.1555_1595dup p.Leu533Phefs*10

0.0001160 (gnomAD)

435

HPS4

c.416G > A

p.Trp139*

N/R

c.416G > A

p.Trp139*

N/R

471

HPS1

c.972dupC p.Met325Hisfs*128

0.001458 (ExAc) ^b

c.1477delA p.Arg493Glyfs*22

N/R

468

TYR

c.929dup

p.Arg311Lysfs*7

0.000694 (ExAc) ^c

c.896G > A

p.Arg299His

0.000347 (ExAc) ^d

469

TYR

c.230_232dupGGG

p.Arg77_Glu78insGly

0.0001168

(ExAc)

c.896G > A

p.Arg299His

0.000347

(ExAc) ^d

470

TYR

c.230_232dupGGG

p.Arg77_Glu78insGly

0.0001168

(ExAc)

c.1235C > T; p.Pro412Leu

N/R

474

TYR

c.655G > A

p.Glu219Lys

N/R ^e

c.896G > A

p.Arg299His

0.000347

(ExAc) ^d