基因名 突变
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142574921C>T,c.461G>A,p.R154H
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142574913A>G,c.469T>C,p.C157R
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142574256C>T,c.667G>A,p.D223N
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142573644A>T,c.776T>A,p.L259Q
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142573614G>A,c.806C>T,p.T269M
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142572908T>C,c.1132A>G,p.M378V
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142570159G>A,c.1861C>T,p.R621W
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142569675C>T,c.1963G>A,p.G655S
TRPV6(NM_018646,transient receptor potential cation channel, subfamily V, member 6,725aa) g.7:142569596A>G,c.2042T>C,p.M681T
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142630534G>A,c.23C>T,p.A8V
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142630489A>G,c.68T>C,p.L23P
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142626609C>T,c.401G>A,p.R134H
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142626595G>A,c.415C>T,p.R139C
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142626549C>T,c.461G>A,p.R154H
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142626541G>A,c.469C>T,p.R157C
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142626164C>T,c.539G>A,p.R180Q
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142612507G>A,c.1256C>T,p.T419M
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142609755C>T,c.1681G>A,p.A561T
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142609749C>T,c.1687G>A,p.A563T
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142609710C>T,c.1726G>A,p.A576T
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142605840G>A,c.2030C>T,p.A677V
TRPV5(NM_019841,transient receptor potential cation channel, subfamily V, member 5,729aa) g.7:142605828A>G,c.2042T>C,p.L681S
TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) g.12:110252547G>A,c.55C>T,p.P19S
TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) g.12:110238516C>T,c.760G>A,p.V254M
TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) g.12:110238516C>G,c.760G>C,p.V254L
TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) g.12:110238507G>C,c.769C>G,p.L257V
TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) g.12:110238429A>T,c.847T>A,p.Y283N
TRPV4(NM_021625,transient receptor potential cation channel, subfamily V, member 4,871aa) g.12:110236613G>A,c.958C>T,p.R320X
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