基因名 突变
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:823751C>G,c.815C>G,p.P272R
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:823729C>T,c.793C>T,p.P265S
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:823586C>G,c.756C>G,p.N252K
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:821778G>A,c.338G>A,p.R113H
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:821675C>T,c.235C>T,p.R79W
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36275458T>C,c.1564T>C,p.S522P
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36274153C>T,c.1469C>T,p.T490M
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36274148T>A,c.1464T>A,p.Y488X
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36270180C>T,c.1318C>T,p.R440X
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36270130C>A,c.1268C>A,p.P423H
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36270028T>C,c.1166T>C,p.L389P
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36269796A>G,c.934A>G,p.K312E
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36269725A>G,c.863A>G,p.E288G
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36269683G>A,c.821G>A,p.R274Q
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36263171G>A,c.745G>A,p.E249K
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36262153G>A,c.691G>A,p.A231T
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36262018G>A,c.556G>A,p.D186N
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36259274C>T,c.383C>T,p.T128M
PNPLA1(NM_001145717,patatin-like phospholipase domain containing 1,532aa) g.6:36238342C>T,c.106C>T,p.R36W
PNOC(NM_006228,prepronociceptin,176aa) g.8:28196783C>G,c.353C>G,p.A118G
PNO1(NM_020143,partner of NOB1 homolog (S. cerevisiae),252aa) g.2:68385599A>G,c.295A>G,p.I99V
PNO1(NM_020143,partner of NOB1 homolog (S. cerevisiae),252aa) g.2:68385516G>C,c.212G>C,p.G71A
PNO1(NM_020143,partner of NOB1 homolog (S. cerevisiae),252aa) g.2:68385097A>G,c.31A>G,p.R11G
PNN(NM_002687,pinin, desmosome associated protein,717aa) g.14:39650924A>G,c.2011A>G,p.S671G
PNN(NM_002687,pinin, desmosome associated protein,717aa) g.14:39650489G>A,c.1576G>A,p.E526K
PNN(NM_002687,pinin, desmosome associated protein,717aa) g.14:39650234A>T,c.1321A>T,p.T441S
PNN(NM_002687,pinin, desmosome associated protein,717aa) g.14:39650175C>T,c.1262C>T,p.A421V
PNN(NM_002687,pinin, desmosome associated protein,717aa) g.14:39649781A>G,c.868A>G,p.M290V
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org