基因名 |
突变 |
TPD52L3(NM_033516,tumor protein D52-like 3,140aa) |
g.9:6328947T>C,c.352T>C,p.F118L |
TPD52L2(NM_199360,tumor protein D52-like 2,229aa) |
g.20:62521230G>A,c.622G>A,p.G208S |
TPD52L2(NM_199360,tumor protein D52-like 2,229aa) |
g.20:62505153G>A,c.298G>A,p.V100M |
TPD52L2(NM_199360,tumor protein D52-like 2,229aa) |
g.20:62500730G>A,c.101G>A,p.R34Q |
TPD52L1(NM_001003395,tumor protein D52-like 1,175aa) |
g.6:125550328T>C,c.113T>C,p.I38T |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68855363G>A,c.2201G>A,p.G734E |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68855362G>A,c.2200G>A,p.G734R |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68854029C>T,c.2042C>T,p.S681L |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68853389A>G,c.1994A>G,p.Y665C |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68853320C>G,c.1925C>G,p.A642G |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68851414T>C,c.1691T>C,p.L564P |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68848911C>T,c.1633C>T,p.R545C |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68846399A>T,c.1450A>T,p.M484L |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68840399G>A,c.1160G>A,p.G387D |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68840160A>G,c.1127A>G,p.K376R |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68831365T>A,c.656T>A,p.V219D |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68831364G>A,c.655G>A,p.V219I |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68825112G>A,c.496G>A,p.V166M |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68825103G>A,c.487G>A,p.V163M |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68822750C>T,c.359C>T,p.P120L |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68822264C>T,c.250C>T,p.R84W |
TPCN2(NM_139075,two pore segment channel 2,752aa) |
g.11:68821507C>T,c.116C>T,p.A39V |
TPCN1(NM_001143819,two pore segment channel 1,888aa) |
g.12:113731084T>C,c.2480T>C,p.M827T |
TPCN1(NM_001143819,two pore segment channel 1,888aa) |
g.12:113730816C>T,c.2407C>T,p.R803W |
TPCN1(NM_001143819,two pore segment channel 1,888aa) |
g.12:113729420G>A,c.2182G>A,p.V728I |
TPCN1(NM_001143819,two pore segment channel 1,888aa) |
g.12:113724871G>A,c.1822G>A,p.V608M |
TPCN1(NM_001143819,two pore segment channel 1,888aa) |
g.12:113715138G>T,c.1369G>T,p.A457S |
TPCN1(NM_001143819,two pore segment channel 1,888aa) |
g.12:113706551C>T,c.749C>T,p.S250L |