基因名 |
突变 |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49692320G>A,c.1991G>A,p.R664H |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49691898G>A,c.1744G>A,p.G582S |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49686408A>C,c.1682A>C,p.D561A |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49686337G>A,c.1611G>A,p.M537I |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49686146G>A,c.1575G>A,p.W525X |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49685947G>A,c.1376G>A,p.R459H |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49685865G>A,c.1294G>A,p.A432T |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49674985C>T,c.1009C>T,p.R337C |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49674854A>G,c.878A>G,p.Q293R |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671952G>A,c.755G>A,p.R252H |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671838G>A,c.641G>A,p.R214H |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671832G>A,c.635G>A,p.R212Q |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671547C>T,c.479C>T,p.T160M |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671299G>C,c.393G>C,p.Q131H |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671229G>A,c.323G>A,p.R108H |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671228C>T,c.322C>T,p.R108C |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671214A>G,c.308A>G,p.Y103C |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671207G>A,c.301G>A,p.A101T |
TRPM4(NM_017636,transient receptor potential cation channel, subfamily M, member 4,1214aa) |
g.19:49671192C>T,c.286C>T,p.R96X |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73736268C>A,c.3G>T,p.M1I |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73736227T>C,c.44A>G,p.Q15R |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73458045_73458046insA,c.677-2insT,p.226Acceptorins |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73254016C>T,c.1541G>A,p.R514H |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73233815G>A,c.2290C>T,p.R764W |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73225644C>T,c.2512G>A,p.G838R |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73225639C>G,c.2517G>C,p.E839D |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73168202C>T,c.3212G>A,p.R1071Q |
TRPM3(NM_001007471,transient receptor potential cation channel, subfamily M, member 3,1707aa) |
g.9:73167783G>A,c.3515C>T,p.P1172L |