Table A1.

Primers for NPC1 mutagenesis PCR and Sanger sequencing.

Primer Name	Sequence (5′-3′)
NPC1_c.180G>T_fw	TGGATATGACTTAGTGCATGAACTCTGTCCAGGATTC
NPC1_c.180G>T_rev	GAATCCTGGACAGAGTTCATGCACTAAGTCATATCCA
NPC1_ c.1480G>A_fw	CCAGAACAGCCATTCCATGCTGGACCACAAGAA
NPC1_ c.1480G>A_rev	TTCTTGTGGTCCAGCATGGAATGGCTGTTCTGG
NPC1_ c.2359A>G_fw	GTGAGTCTCTTGGGGTTAGACGTTAAACGTCAAGAGAAAAATC
NPC1_ c.2359A>G_rev	GATTTTTCTCTTGACGTTTAACGTCTAACCCCAAGAGACTCAC
NPC1_c.2861C>T_fw	GGGTGAAGCCACAGTTGTCTTGCTGTCGAGT
NPC1_c.2861C>T_rev	ACTCGACAGCAAGACAACTGTGGCTTCACCC
NPC1_ c.3817G>A_fw	ACAAAGGAACAGAGCGCAAACGGCTTCTAAATTTC
NPC1_ c.3817G>A_rev	GAAATTTAGAAGCCGTTTGCGCTCTGTTCCTTTGT
NPC1_ c.3182T>C_fw	GAAGAAAGCCCGACTTACAGCCAGTAATGTCACCG
NPC1_ c.3182T>C_rev	CGGTGACATTACTGGCTGTAAGTCGGGCTTTCTTC
T7_Standard	TAATACGACTCACTATAGG
NPC1_cds_1	GTGAAAGAGTTACAATACTACG
NPC1_cds_2	CCCATCGATAGCAATATAGC
NPC1_cds_3	CACCGTATAACACGAACTGC
NPC1_cds_4	GCTGAAGATGGAACAAGCGT
NPC1_cds_5	AGTGGTTGACCCTGCCTGCGTT
NPC1_cds_6	TTGGAGTTATGTGGCTCTGG