Приложение А4

МИНИМАЛЬНЫЙ СПИСОК
МУТАЦИЙ ГЕНОВ RAS ДЛЯ ТЕСТИРОВАНИЯ ПРИ РАКЕ ТОЛСТОЙ КИШКИ

Ген

Мутация

KRAS (2 экзон)

c.35G > A (p.Gly12Asp)

c.35G > T (p.Gly12Val)

c.35G > C (p.Gly12Ala)

c.34G > T (p.Gly12Cys)

c.34G > A (p.Gly12Ser)

c.34G > C (p.Gly12Arg)

c.37_38delinsTT (p.Gly13Phe)

c.38G > A (p.Gly13Asp)

c.38G > C (p.Gly13Ala)

c.37G > T (p.Gly13Cys)

c.37G > A (p.Gly13Ser)

c.37G > C (p.Gly13Arg)

c.38G > T (p.Gly13Val)

KRAS (3 экзон)

c.176C > A (p.Ala59Glu)

c.176C > G (p.Ala59Gly)

c.175G > T (p.Ala59Ser)

c.175G > A (p.Ala59Thr)

c.183A > C (p.Gln61His)

c.181C > G (p.Gln61Glu)

c.183A > T (p.Gln61His)

c.181C > A (p.Gln61Lys)

c.182A > T (p.Gln61Leu)

c.182A > C (p.Gln61Pro)

c.182A > G (p.Gln61Arg)

KRAS (4 экзон)

c.351A > C (p.Lys117Asn)

c.351A > T (p.Lys117Asn)

c.349A > G (p.Lys117Glu)

c.350A > G (p.Lys117Arg)

c.436G > C (p.Ala146Pro)

c.436G > A (p.Ala146Thr)

c.437C > T (p.Ala146Val)

NRAS (2 экзон)

c.34G > A (p.Gly12Ser)

c.34G > C (p.Gly12Arg)

c.34G > T (p.Gly12Cys)

c.35G > A (p.Gly12Asp)

c.35G > C (p.Gly12Ala)

c.35G > T (p.Gly12Val)

c.37G > A (p.Gly13Ser)

c.37G > C (p.Gly13Arg)

c.37G > T (p.Gly13Cys)

c.38G > A (p.Gly13Asp)

c.38G > C (p.Gly13Ala)

c.38G > T (p.Gly13Val)

NRAS (3 экзон)

c.175G > A (p.Ala59Thr)

c.176C > A (p.Ala59Asp)

c.176C > G (p.Ala59Gly)

c.175G > T (p.Ala59Ser)

c.181C > A (p.Gln61Lys)

c.181C > G (p.Gln61Glu)

c.182A > G (p.Gln61Arg)

c.182A > C (p.Gln61Pro)

c.183A > C (p.Gln61His)

c.183A > T (p.Gln61His)

c.182A > T (p.Gln61Leu)