基因名 |
突变 |
WIF1(NM_007191,WNT inhibitory factor 1,379aa) |
g.12:65445191T>C,c.1078A>G,p.T360A |
WIF1(NM_007191,WNT inhibitory factor 1,379aa) |
g.12:65445188G>T,c.1081C>A,p.P361T |
WIBG(NM_032345,within bgcn homolog (Drosophila),204aa) |
g.12:56296075C>G,c.196G>C,p.E66Q |
WIBG(NM_032345,within bgcn homolog (Drosophila),204aa) |
g.12:56295696G>A,c.575C>T,p.A192V |
WHSC1(NM_133334,Wolf-Hirschhorn syndrome candidate 1,647aa) |
g.4:1936899C>A,c.1584C>A,p.H528Q |
WHSC1(NM_133334,Wolf-Hirschhorn syndrome candidate 1,647aa) |
g.4:1936897C>A,c.1582C>A,p.H528N |
WHSC1(NM_133334,Wolf-Hirschhorn syndrome candidate 1,647aa) |
g.4:1920270A>G,c.1330A>G,p.T444A |
WHSC1(NM_133334,Wolf-Hirschhorn syndrome candidate 1,647aa) |
g.4:1920021A>C,c.1081A>C,p.K361Q |
WHSC1(NM_133334,Wolf-Hirschhorn syndrome candidate 1,647aa) |
g.4:1918721A>T,c.884A>T,p.Q295L |
WHSC1L1(NM_023034,Wolf-Hirschhorn syndrome candidate 1-like 1,1437aa) |
g.8:38205269G>C,c.421C>G,p.Q141E |
WHSC1L1(NM_023034,Wolf-Hirschhorn syndrome candidate 1-like 1,1437aa) |
g.8:38187317A>G,c.1160T>C,p.I387T |
WHSC1L1(NM_023034,Wolf-Hirschhorn syndrome candidate 1-like 1,1437aa) |
g.8:38187026G>A,c.1451C>T,p.T484M |
WHSC1L1(NM_023034,Wolf-Hirschhorn syndrome candidate 1-like 1,1437aa) |
g.8:38162945G>A,c.2261C>T,p.S754L |
WHSC1L1(NM_023034,Wolf-Hirschhorn syndrome candidate 1-like 1,1437aa) |
g.8:38162153T>C,c.2563A>G,p.S855G |
WHSC1L1(NM_023034,Wolf-Hirschhorn syndrome candidate 1-like 1,1437aa) |
g.8:38162117C>T,c.2599G>A,p.V867I |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83502244_83502246del,c.2386_2388del,p.796del |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83502197G>A,c.2339G>A,p.S780N |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83502077A>G,c.2219A>G,p.N740S |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83502066C>G,c.2208C>G,p.H736Q |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83502065A>C,c.2207A>C,p.H736P |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83499766G>A,c.2057G>A,p.R686H |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83499700C>T,c.1991C>T,p.S664L |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83499688G>A,c.1979G>A,p.R660H |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83499472C>T,c.1763C>T,p.P588L |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83499354C>T,c.1645C>T,p.R549C |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83495214T>A,c.1511T>A,p.I504K |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83485498G>A,c.838G>A,p.E280K |
WHAMM(NM_001080435,WAS protein homolog associated with actin, golgi membranes and microtubules,809aa) |
g.15:83481880A>G,c.635A>G,p.N212S |