基因名 突变
PRSS38(NM_183062,protease, serine, 38,326aa) g.1:228003871G>A,c.229G>A,p.V77M
PRSS38(NM_183062,protease, serine, 38,326aa) g.1:228003839C>T,c.197C>T,p.A66V
PRSS38(NM_183062,protease, serine, 38,326aa) g.1:228003799C>T,c.157C>T,p.R53W
PRSS38(NM_183062,protease, serine, 38,326aa) g.1:228003508G>A,c.91G>A,p.A31T
PRSS37(NM_001008270,protease, serine, 37,235aa) g.7:141539277T>C,c.37A>G,p.T13A
PRSS37(NM_001008270,protease, serine, 37,235aa) g.7:141539138G>A,c.176C>T,p.P59L
PRSS37(NM_001008270,protease, serine, 37,235aa) g.7:141539137C>T,c.176+1G>A,p.59Donor
PRSS37(NM_001008270,protease, serine, 37,235aa) g.7:141537869T>A,c.221A>T,p.D74V
PRSS37(NM_001008270,protease, serine, 37,235aa) g.7:141537735T>G,c.355A>C,p.T119P
PRSS37(NM_001008270,protease, serine, 37,235aa) g.7:141536997C>T,c.482G>A,p.R161Q
PRSS37(NM_001008270,protease, serine, 37,235aa) g.7:141536915A>C,c.564T>G,p.F188L
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31160548G>A,c.118C>T,p.R40C
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31157190C>G,c.640G>C,p.G214R
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31154231G>T,c.1184C>A,p.A395E
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31154111T>C,c.1304A>G,p.E435G
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31153920C>T,c.1403G>A,p.G468D
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31153136C>T,c.1667G>A,p.G556E
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31152818C>T,c.1873G>A,p.V625I
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31151860G>A,c.2120C>T,p.P707L
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31151622C>T,c.2282G>A,p.R761K
PRSS36(NM_173502,protease, serine, 36,855aa) g.16:31150568T>C,c.2459A>G,p.H820R
PRSS35(NM_001170423,protease, serine, 35,413aa) g.6:84234398G>C,c.1238G>C,p.G413A
PRSS35(NM_001170423,protease, serine, 35,413aa) g.6:84234391G>T,c.1231G>T,p.A411S
PRSS35(NM_001170423,protease, serine, 35,413aa) g.6:84234169C>G,c.1009C>G,p.Q337E
PRSS35(NM_001170423,protease, serine, 35,413aa) g.6:84234052A>G,c.892A>G,p.T298A
PRSS35(NM_001170423,protease, serine, 35,413aa) g.6:84233831G>A,c.671G>A,p.R224Q
PRSS33(NM_152891,protease, serine, 33,280aa) g.16:2836527G>A,c.22C>T,p.Q8X
PRSS33(NM_152891,protease, serine, 33,280aa) g.16:2835893C>A,c.149G>T,p.W50L
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