Генотипирование мутаций в генах KRAS, NRAS и BRAF при колоректальном раке методом масс-спектрометрии
Таблица 1 - Список исследуемых мутаций в генах KRAS, NRAS и BRAF
Ген (экзон) | Название | Локация | RS | Ген (экзон) | Название | Локация | RS |
KRAS (2 экзон) | p.G12D | c.35G>A | rs121913529 | NRAS (2 экзон) | p.G12S | c.34G>A | rs121913250 |
p.G12V | c.35G>T | p.G12R | c.34G>C | ||||
p.G12A | c.35G>C | p.G12C | c.34G>T | ||||
p.G12C | c.34G>T | rs121913530 | p.G12D | c.35G>A | rs121913237 | ||
p.G12S | c.34G>A | p.G12A | c.35G>C | ||||
p.G12R | c.34G>C | p.G12V | c.35G>T | ||||
p.G13D | c.38G>A | rs112445441 | p.G13S | c.37G>A | rs121434595 | ||
p.G13V | c.38G>T | p.G13R | c.37G>C | ||||
p.G13A | c.38G>C | p.G13C | c.37G>T | ||||
p.G13C | c.37G>T | rs121913535 | p.G13D | c.38G>A | rs121434596 | ||
p.G13S | c.37G>A | p.G13A | c.38G>C | ||||
p.G13R | c.37G>C | p.G13V | c.38G>T | ||||
p.V14I | c.40G>A | rs104894365 | NRAS (3 экзон) | p.A59T | c.175G>A | rs730880965 | |
KRAS (3 экзон) | p.A59E | c.176C>A | rs104886029 | p.A59S | c.175G>T | ||
p.A59G | c.176C>G | p.A59G | c.176C>G | rs1570874751 | |||
p.A59S | c.175G>T | rs121913528 | p.A59D | c.176C>A | |||
p.A59T | c.175G>A | p.Q61K | c.181C>A | rs121913254 | |||
p.Q61E | c.181C>G | rs121913238 | p.Q61E | c.181C>G | |||
p.Q61K | c.181C>A | p.Q61R | c.182A>G | rs11554290 | |||
p.Q61Hc | c.183A>C | rs17851045 | p.Q61P | c.182A>C | |||
p.Q61Ht | c.183A>T | p.Q61L | c.182A>T | ||||
p.Q61L | c.182A>T | rs121913240 | p.Q61H | c.183A>C | rs121913255 | ||
p.Q61P | c.182A>C | p.Q61H | c.183A>T | ||||
p.Q61R | c.182A>G | NRAS (4 экзон) | p.K117N | c.351G>С | rs376187980 | ||
KRAS (4 экзон) | p.K117Nc | c.351A>C | rs770248150 | p.K117N | c.351G>T | ||
p.K117Nt | c.351A>T | p.K117R | c.350A>G | rs2101739029 | |||
p.K117E | c.349A>G | rs2141506243 | p.K117E | c.349A>G | rs1038226435 | ||
p.K117R | c.350A>G | rs2141506236 | p.A146T | c.436G>A | rs1658995663 | ||
p.A146P | c.436G>C | rs121913527 | p.A146P | c.436G>C | |||
p.A146T | c.436G>A | p.A146V | c.437C>T | rs2101738633 | |||
p.A146V | c.437C>T | rs1057519725 | BRAF (12 экзон) | р.G466E | c.1397G>A | rs121913351 | |
BRAF (16 экзон) | p.V600E | c.1799T>A | rs113488022 | р.G466A | c.1397G>C | ||
p.V600G | c.1799T>G | р.G466V | c.1397G>T | ||||
p.V600Ec | с.1799_1800 TG > AA | р.G469S | c.1405_1406GG>TC | rs1057519720 | |||
p.K601E | c.1801A>G | rs121913364 | р.G469A | c.1406G>C | rs121913355 | ||
p.V600M | c.1798G>A | rs121913378 | р.G469V | c.1406G>T | |||
p.V600Dc | c.1799_1800delinsAC | rs121913377 | р.G469E | c.1406G>A | |||
p.V600R | c.1798_1799delinsAG | р.G469R | c.1405G>C | rs121913357
| |||
p.V600D | c.1799_1800delinsAT | BRAF (16 экзон) | р.L597Q | c.1790T>A | rs121913366
| ||
p.V600K | c.1798_1799delinsAA | rs121913227 | р.L597R | c.1789_1790CT>AG | |||
BRAF (16 экзон) | р.L597S | c.1789_1790CT>TC | rs121913368 | р.T599_V600insTT | c.1797_1797A>TACTACG | rs121913374 | |
р.L597V | c.1789C>G | rs121913369 | р.K601N | c.1803A>T/c.1803A>C | rs121913365 |