基因名 |
突变 |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2436559C>T,c.1271G>A,p.R424H |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2436497C>T,c.1333G>A,p.G445S |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2436476G>A,c.1354C>T,p.R452W |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2436464C>T,c.1366G>A,p.A456T |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2436201C>T,c.1556G>A,p.R519Q |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2435956C>T,c.1733G>A,p.R578Q |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2434772G>T,c.1937C>A,p.P646H |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2434763C>T,c.1946G>A,p.R649Q |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2434385G>A,c.2075C>T,p.P692L |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2434109C>T,c.2230G>A,p.A744T |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2432983G>A,c.2489C>T,p.A830V |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2432666C>T,c.2698G>A,p.G900S |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2429014T>G,c.2911A>C,p.M971L |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2428495A>G,c.2972T>C,p.M991T |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2428477C>T,c.2990G>A,p.R997H |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2427272G>A,c.3301C>T,p.R1101C |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2426793C>T,c.3355G>A,p.V1119M |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2426784C>A,c.3364G>T,p.V1122L |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2426259C>T,c.3406G>A,p.G1136S |
TRPM5(NM_014555,transient receptor potential cation channel, subfamily M, member 5,1165aa) |
g.11:2426256C>T,c.3409G>A,p.E1137K |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49714749A>T,c.3641-2A>T,p.1214Acceptor |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49714497C>T,c.3611C>T,p.P1204L |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49714084A>G,c.3446A>G,p.K1149R |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49703651A>T,c.2740A>T,p.K914X |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49700013G>C,c.2527G>C,p.G843R |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49699759_49699770del,c.2273_2284del,p.758_762del |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49694029G>A,c.2209G>A,p.G737R |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49693531G>A,c.2086G>A,p.A696T |