| 基因名 | 突变 |
|---|---|
| WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) | g.15:83481859T>A,c.614T>A,p.I205N |
| WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) | g.15:83478684C>T,c.206C>T,p.P69L |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6304142G>A,c.2620G>A,p.A874T |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6304133G>A,c.2611G>A,p.V871M |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6304125G>A,c.2603G>A,p.R868H |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6304118G>A,c.2596G>A,p.D866N |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6304087A>G,c.2565A>G,p.S855S |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303974C>T,c.2452C>T,p.R818C |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303955G>A,c.2433G>A,p.K811K |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303907G>C,c.2385G>C,p.E795D |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303902G>A,c.2380G>A,p.E794K |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303893C>T,c.2371C>T,p.R791C |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303849A>T,c.2327A>T,p.E776V |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303836C>T,c.2314C>T,p.R772C |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303731G>A,c.2209G>A,p.E737K |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303728G>A,c.2206G>A,p.G736S |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303716C>T,c.2194C>T,p.R732C |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303680A>G,c.2158A>G,p.I720V |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303645G>A,c.2123G>A,p.R708H |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303576G>A,c.2054G>A,p.R685H |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303575C>T,c.2053C>T,p.R685C |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303548C>T,c.2026C>T,p.R676C |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303542G>A,c.2020G>A,p.G674R |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303534C>T,c.2012C>T,p.A671V |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303480G>A,c.1958G>A,p.R653H |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303354G>A,c.1832G>A,p.R611H |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303342C>T,c.1820C>T,p.P607L |
| WFS1(NM_006005,Wolfram syndrome 1 (wolframin),890aa) | g.4:6303282G>A,c.1760G>A,p.R587Q |