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