Skip to main content

Table 2 Observed pharmacogenetic variants by WGS versus ES.

From: Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Gene OBS WGS OBS WES Variant Drug(s)
ADRB1 C/C C/C p.Gly389Arg Beta-blockers
CDA A/C A/C p.Lys27Gln Gemcitabine, cisplatin
CYP2C8 C/T C/T p.Arg139Lys Paclitaxel
CYP2C8 T/C T/C p.Lys339Arg Paclitaxel
CYP2C9 A/C A/C p.Ile359Leu Warfarin
CYP2C9 T/T(r = 2) C/T(r = 65) p.Arg144Cys Warfarin
NAT2 C/C C/C p.Ile114Thr Isoniazid
POR C/T C/T p.Ala503Val Midazolam
TPMT C/G C/G p.Ala80Pro Purines
UGT1A3 C/C C/C p.Trp11Arg Estrones, flavonoids
UGT1A7 C/C C/C p.Trp208Arg Irinotecan
UGT1A7 G/G G/G p.Asn129Lys Irinotecan