基因名 |
突变 |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6303278G>A,c.1756G>A,p.A586T |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6303248G>A,c.1726G>A,p.G576S |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6303197G>A,c.1675G>A,p.A559T |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6303194C>T,c.1672C>T,p.R558C |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302889G>A,c.1367G>A,p.R456H |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302886C>T,c.1364C>T,p.T455M |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302831G>A,c.1309G>A,p.G437S |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302757T>C,c.1235T>C,p.V412A |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302756G>C,c.1234G>C,p.V412L |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302707C>T,c.1185C>T,p.V395V |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302703A>T,c.1181A>T,p.E394V |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302675G>A,c.1153G>A,p.E385K |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302519G>A,c.997G>A,p.V333I |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302507T>A,c.985T>A,p.F329I |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6302442C>T,c.920C>T,p.A307V |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6293040A>C,c.577A>C,p.K193Q |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6290847C>T,c.449C>T,p.A150V |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6279355C>T,c.173C>T,p.A58V |
WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) |
g.4:6279223A>G,c.41A>G,p.Q14R |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48918291G>T,c.1642G>T,p.A548S |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48918252G>A,c.1603G>A,p.G535S |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48918012G>A,c.1363G>A,p.V455I |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48917619C>T,c.970C>T,p.P324S |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48917611C>T,c.962C>T,p.T321M |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48916935G>A,c.286G>A,p.V96M |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48913414G>A,c.116G>A,p.R39H |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48913410A>G,c.112A>G,p.I38V |
WFIKKN2(NM_175575,WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2,576aa) |
g.17:48913390G>A,c.92G>A,p.R31Q |