Genename |
Variants |
BHLHE40(NM_003670,basic helix-loop-helix family, member e40,412aa) |
g.3:5025066C>A,c.928C>A,p.P310T |
BHLHE40(NM_003670,basic helix-loop-helix family, member e40,412aa) |
g.3:5024900G>C,c.762G>C,p.L254F |
BHLHE40(NM_003670,basic helix-loop-helix family, member e40,412aa) |
g.3:5023157G>T,c.339G>T,p.Q113H |
BHLHE23(NM_080606,basic helix-loop-helix family, member e23,241aa) |
g.20:61637413G>C,c.714C>G,p.H238Q |
BHLHE22(NM_152414,basic helix-loop-helix family, member e22,381aa) |
g.8:65494026A>G,c.679A>G,p.S227G |
BHLHE22(NM_152414,basic helix-loop-helix family, member e22,381aa) |
g.8:65494023A>G,c.676A>G,p.S226G |
BHLHE22(NM_152414,basic helix-loop-helix family, member e22,381aa) |
g.8:65493664G>T,c.317G>T,p.G106V |
BHLHE22(NM_152414,basic helix-loop-helix family, member e22,381aa) |
g.8:65493532T>A,c.185T>A,p.L62Q |
BHLHE22(NM_152414,basic helix-loop-helix family, member e22,381aa) |
g.8:65493429T>G,c.82T>G,p.S28A |
BHLHB9(NM_001142524,basic helix-loop-helix domain containing, class B, 9,547aa) |
g.X:102005254A>G,c.1331A>G,p.N444S |
BHLHB9(NM_001142524,basic helix-loop-helix domain containing, class B, 9,547aa) |
g.X:102005162G>A,c.1239G>A,p.M413I |
BHLHB9(NM_001142524,basic helix-loop-helix domain containing, class B, 9,547aa) |
g.X:102004875T>C,c.952T>C,p.C318R |
BHLHB9(NM_001142524,basic helix-loop-helix domain containing, class B, 9,547aa) |
g.X:102004317A>G,c.394A>G,p.S132G |
BHLHB9(NM_001142524,basic helix-loop-helix domain containing, class B, 9,547aa) |
g.X:102004279T>C,c.356T>C,p.I119T |
BGN(NM_001711,biglycan,368aa) |
g.X:152773859G>A,c.1063G>A,p.V355I |
BGN(NM_001711,biglycan,368aa) |
g.X:152773782G>A,c.986G>A,p.R329Q |
BGN(NM_001711,biglycan,368aa) |
g.X:152771985A>C,c.566-2A>C,p.189Acceptor |
BGN(NM_001711,biglycan,368aa) |
g.X:152771509C>T,c.540C>T,p.S180S |
BGN(NM_001711,biglycan,368aa) |
g.X:152770735C>T,c.278C>T,p.T93M |
BGN(NM_001711,biglycan,368aa) |
g.X:152770714A>G,c.257A>G,p.K86R |
BGLAP(NM_199173,bone gamma-carboxyglutamate (gla) protein,100aa) |
g.1:156212933C>T,c.283C>T,p.R95C |
BGLAP(NM_199173,bone gamma-carboxyglutamate (gla) protein,100aa) |
g.1:156212931G>A,c.281G>A,p.R94Q |
BGLAP(NM_199173,bone gamma-carboxyglutamate (gla) protein,100aa) |
g.1:156212567C>A,c.118C>A,p.Q40K |
BGLAP(NM_199173,bone gamma-carboxyglutamate (gla) protein,100aa) |
g.1:156212564A>G,c.115A>G,p.K39E |
BFSP2(NM_003571,beaded filament structural protein 2, phakinin,415aa) |
g.3:133191385C>A,c.1220C>A,p.A407D |
BFSP2(NM_003571,beaded filament structural protein 2, phakinin,415aa) |
g.3:133169276C>T,c.859C>T,p.R287W |
BFSP2(NM_003571,beaded filament structural protein 2, phakinin,415aa) |
g.3:133169264G>A,c.847G>A,p.V283I |
BFSP2(NM_003571,beaded filament structural protein 2, phakinin,415aa) |
g.3:133166188C>T,c.517C>T,p.R173W |