Table 2.

Extension Primer Sequences and Concentrations

Primer name and variant changes	Primer sequence	Concentration (μM)
Splice site mutation	5′-CCTATCCTTGTCGGT-3′	0.4
c.253-2A>G
IVS 2-2A>G
Exon5 c.404C>T p.S135L	5′-AGGTCATGTGCTTCCACCCCTGGT-3′	0.2
Exon5 c.413C>T* p.T138M	5′-GGATCTCAGGGACCGACATGAGTGGCAGC-3′	0.08
Exon6 c.563A>G p.Q188R	5′-ATGATGGGCTGTTCTAACCCCCACCCCCACTGCC-3′	0.1
Exon7 c.584T>C p.L195P	5′-CTGCTTTTGCCCCTTGACAGGTATGGGCCAGCAGTTTCC-3′	0.36
Exon7 c.626A>G*p.Y209C	5′-GGCGGCTGTACTCCATTAGCAGGGGCTCTCCATGCTGACTCTTA-3′	0.4
Exon7 c.652C>T*†p.L218L	5′-TTGGCTCTCTCCCACCTTCCTGAGTAGCTCCTGGCGGCTGTACTCCATTA-3′	0.16
Exon9 c.285G>T† p.K285N	5′-GAGTCAGGCTCTGATTCCAGATCTAGCCTCCATCATGAAGAAGCTCTTGACCAA-3′	0.12
Exon10 c.940A>G† p.N314D	5′-CACTGTCTCTCTTCTTTCTGTCAGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGG-3′	0.4

Exon number, nucleotide, and amino acid changes are given with primer sequences and concentrations of nine oligodeoxyribonucleotides. 

^*Primers in italics interrogate the antisense strand. 

^†Primers that are 50-bp long were purified by high-performance liquid chromatography before use.