|
NM_001018016.2:c.266T>C
|
NP_001018016.1:p.Ile89Thr
|
|
NM_001018016.3:c.266T>C
|
NP_001018016.1:p.Ile89Thr
|
|
NM_001018017.2:c.239T>C
|
NP_001018017.1:p.Ile80Thr
|
|
NM_001018017.3:c.239T>C
|
NP_001018017.1:p.Ile80Thr
|
|
NM_001044390.2:c.220T>C
|
NP_001037855.1:p.Phe74Leu
|
|
NM_001044390.3:c.220T>C
|
NP_001037855.1:p.Phe74Leu
|
|
NM_001044391.2:c.228+110T>C
|
NP_001037856.1:n.228+110T>C
|
|
NM_001044391.3:c.228+110T>C
|
NP_001037856.1:n.228+110T>C
|
|
NM_001044392.2:c.255+110T>C
|
NP_001037857.1:n.255+110T>C
|
|
NM_001044392.3:c.255+110T>C
|
NP_001037857.1:n.255+110T>C
|
|
NM_001044393.2:c.220T>C
|
NP_001037858.1:p.Phe74Leu
|
|
NM_001044393.3:c.220T>C
|
NP_001037858.1:p.Phe74Leu
|
|
NM_001204285.1:c.899T>C
|
NP_001191214.1:p.Ile300Thr
|
|
NM_001204285.2:c.899T>C
|
NP_001191214.1:p.Ile300Thr
|
|
NM_001204286.1:c.926T>C
|
NP_001191215.1:p.Ile309Thr
|
|
NM_001204287.1:c.320T>C
|
NP_001191216.1:p.Ile107Thr
|
|
NM_001204287.2:c.320T>C
|
NP_001191216.1:p.Ile107Thr
|
|
NM_001204288.1:c.266T>C
|
NP_001191217.1:p.Ile89Thr
|
|
NM_001204288.2:c.266T>C
|
NP_001191217.1:p.Ile89Thr
|
|
NM_001204289.1:c.188T>C
|
NP_001191218.1:p.Ile63Thr
|
|
NM_001204289.2:c.188T>C
|
NP_001191218.1:p.Ile63Thr
|
|
NM_001204290.1:c.125T>C
|
NP_001191219.1:p.Ile42Thr
|
|
NM_001204290.2:c.125T>C
|
NP_001191219.1:p.Ile42Thr
|
|
NM_001204291.1:c.197T>C
|
NP_001191220.1:p.Ile66Thr
|
|
NM_001204292.1:c.236+110T>C
|
NP_001191221.1:n.236+110T>C
|
|
NM_001204293.1:c.293T>C
|
NP_001191222.1:p.Ile98Thr
|
|
NM_001204293.2:c.293T>C
|
NP_001191222.1:p.Ile98Thr
|
|
NM_001204294.1:c.209+110T>C
|
NP_001191223.1:n.209+110T>C
|
|
NM_001204294.2:c.209+110T>C
|
NP_001191223.1:n.209+110T>C
|
|
NM_001204295.1:c.255+110T>C
|
NP_001191224.1:n.255+110T>C
|
|
NM_001204296.1:c.247T>C
|
NP_001191225.1:p.Phe83Leu
|
|
NM_001204296.2:c.247T>C
|
NP_001191225.1:p.Phe83Leu
|
|
NM_001204297.1:c.309+110T>C
|
NP_001191226.1:n.309+110T>C
|
|
NM_001204297.2:c.309+110T>C
|
NP_001191226.1:n.309+110T>C
|
|
NM_001371720.1:c.3164T>C
|
NP_001358649.1:p.Ile1055Thr
|
|
NM_002456.5:c.293T>C
|
NP_002447.4:p.Ile98Thr
|
|
NM_002456.6:c.293T>C
|
NP_002447.4:p.Ile98Thr
|
|
ENST00000337604.6:c.293T>C
|
ENSP00000338983.5:p.Ile98Thr
|
|
ENST00000338684.9:c.197T>C
|
ENSP00000343482.6:p.Ile66Thr
|
|
ENST00000342482.8:c.187-509T>C
|
ENSP00000342814.4:n.187-509T>C
|
|
ENST00000343256.9:c.220T>C
|
ENSP00000339690.5:p.Phe74Leu
|
|
ENST00000368389.6:c.282+110T>C
|
ENSP00000357374.2:n.282+110T>C
|
|
ENST00000368390.7:c.239T>C
|
ENSP00000357375.3:p.Ile80Thr
|
|
ENST00000368392.7:c.266T>C
|
ENSP00000357377.3:p.Ile89Thr
|
|
ENST00000368393.7:c.293T>C
|
ENSP00000357378.3:p.Ile98Thr
|
|
ENST00000368396.8:c.255+110T>C
|
ENSP00000357381.4:n.255+110T>C
|
|
ENST00000368398.7:c.209+110T>C
|
ENSP00000357383.3:n.209+110T>C
|
|
ENST00000438413.5:c.161T>C
|
ENSP00000389098.1:p.Ile54Thr
|
|
ENST00000457295.6:c.320T>C
|
ENSP00000388172.3:p.Ile107Thr
|
|
ENST00000462215.5:c.*15T>C
|
ENSP00000480335.1:n.*15T>C
|
|
ENST00000462317.5:c.200T>C
|
ENSP00000479471.1:p.Ile67Thr
|
|
ENST00000467134.5:c.236+110T>C
|
ENSP00000484006.1:n.236+110T>C
|
|
ENST00000471283.5:c.239T>C
|
ENSP00000484730.1:p.Ile80Thr
|
|
ENST00000498431.5:c.239T>C
|
ENSP00000483128.1:p.Ile80Thr
|
|
ENST00000610359.4:c.236+110T>C
|
ENSP00000483482.1:n.236+110T>C
|
|
ENST00000610468.4:c.*15T>C
|
ENSP00000482688.1:n.*15T>C
|
|
ENST00000611571.4:c.3260T>C
|
ENSP00000480333.1:p.Ile1087Thr
|
|
ENST00000611577.4:c.334-515T>C
|
ENSP00000483581.1:n.334-515T>C
|
|
ENST00000612778.4:c.926T>C
|
ENSP00000484824.1:p.Ile309Thr
|
|
ENST00000614519.4:c.320T>C
|
ENSP00000482988.1:p.Ile107Thr
|
|
ENST00000615517.4:c.255+110T>C
|
ENSP00000483473.1:n.255+110T>C
|
|
ENST00000620103.4:c.899T>C
|
ENSP00000481231.1:p.Ile300Thr
|
