|
ENST00000346322.10:c.5382G>T
(MYLK)
|
ENSP00000320622.6:p.Glu1794Asp
|
|
|
ENST00000508240.2:c.2142G>T
(MYLK)
|
ENSP00000422984.2:p.Glu714Asp
|
|
|
ENST00000578202.2:c.*247G>T
(MYLK)
|
ENSP00000463691.2:n.*247G>T
|
|
|
ENST00000583087.6:c.462G>T
(MYLK)
|
ENSP00000462118.1:p.Glu154Asp
|
|
|
ENST00000685021.1:c.2976G>T
(MYLK)
|
ENSP00000508447.1:p.Glu992Asp
|
|
|
ENST00000685170.1:n.955G>T
(MYLK)
|
|
|
|
ENST00000685259.1:c.3261G>T
(MYLK)
|
|
|
|
ENST00000685744.1:c.459G>T
(MYLK)
|
ENSP00000510047.1:p.Glu153Asp
|
|
|
ENST00000685907.1:n.3523G>T
(MYLK)
|
|
|
|
ENST00000685953.1:c.2139G>T
(MYLK)
|
ENSP00000510593.1:p.Glu713Asp
|
|
|
ENST00000686039.1:c.3126G>T
(MYLK)
|
|
|
|
ENST00000686245.1:c.2859G>T
(MYLK)
|
ENSP00000509313.1:p.Glu953Asp
|
|
|
ENST00000686281.1:n.1034G>T
(MYLK)
|
|
|
|
ENST00000686406.1:c.5739G>T
(MYLK)
|
ENSP00000509044.1:p.Glu1913Asp
|
|
|
ENST00000686458.1:n.2244G>T
(MYLK)
|
|
|
|
ENST00000686761.1:c.5742G>T
(MYLK)
|
ENSP00000508758.1:p.Glu1914Asp
|
|
|
ENST00000687375.1:c.459G>T
(MYLK)
|
ENSP00000509867.1:p.Glu153Asp
|
|
|
ENST00000687434.1:c.*1958G>T
(MYLK)
|
ENSP00000509751.1:n.*1958G>T
|
|
|
ENST00000687709.1:n.3797G>T
(MYLK)
|
|
|
|
ENST00000687848.1:c.5772G>T
(MYLK)
|
ENSP00000508761.1:p.Glu1924Asp
|
|
|
ENST00000688024.1:c.2973G>T
(MYLK)
|
ENSP00000509803.1:p.Glu991Asp
|
|
|
ENST00000688223.1:c.2772G>T
(MYLK)
|
ENSP00000508935.1:p.Glu924Asp
|
|
|
ENST00000689446.1:n.944G>T
(MYLK)
|
|
|
|
ENST00000689868.1:n.6002G>T
(MYLK)
|
|
|
|
ENST00000689918.1:n.1817G>T
(MYLK)
|
|
|
|
ENST00000690167.1:n.3410G>T
(MYLK)
|
|
|
|
ENST00000690457.1:c.4980G>T
(MYLK)
|
ENSP00000508777.1:p.Glu1660Asp
|
|
|
ENST00000690656.1:n.447G>T
(MYLK)
|
|
|
|
ENST00000691367.1:n.438G>T
(MYLK)
|
|
|
|
ENST00000691933.1:c.3366G>T
(MYLK)
|
|
|
|
ENST00000692356.1:c.93G>T
(MYLK)
|
ENSP00000509805.1:p.Glu31Asp
|
|
|
ENST00000692507.1:n.1546G>T
(MYLK)
|
|
|
|
ENST00000693689.1:c.5535G>T
(MYLK)
|
ENSP00000510503.1:p.Glu1845Asp
|
|
|
ENST00000360304.8:c.5742G>T
(MYLK)
MANE Select
|
ENSP00000353452.3:p.Glu1914Asp
|
|
|
ENST00000346322.9:c.5535G>T
(MYLK)
|
ENSP00000320622.5:p.Glu1845Asp
|
|
|
ENST00000354792.9:c.5535G>T
(MYLK)
|
ENSP00000346846.6:p.Glu1845Asp
|
|
|
ENST00000359169.5:c.5589G>T
(MYLK)
|
ENSP00000352088.1:p.Glu1863Asp
|
|
|
ENST00000360304.7:c.5742G>T
(MYLK)
|
ENSP00000353452.3:p.Glu1914Asp
|
|
|
ENST00000360772.7:c.5589G>T
(MYLK)
|
ENSP00000354004.3:p.Glu1863Asp
|
|
|
ENST00000418370.6:c.462G>T
(MYLK)
|
ENSP00000428967.1:p.Glu154Asp
|
|
|
ENST00000464489.5:c.*5321G>T
(MYLK)
|
ENSP00000417798.1:n.*5321G>T
|
|
|
ENST00000475616.5:c.5742G>T
(MYLK)
|
ENSP00000418335.1:p.Glu1914Asp
|
|
|
ENST00000578202.1:c.459G>T
(MYLK)
|
ENSP00000463691.1:p.Glu153Asp
|
|
|
ENST00000583087.5:c.462G>T
(MYLK)
|
ENSP00000462118.1:p.Glu154Asp
|
|
|
NM_053025.3:c.5742G>T
(MYLK)
|
NP_444253.3:p.Glu1914Asp
|
|
|
NM_053026.3:c.5535G>T
(MYLK)
|
NP_444254.3:p.Glu1845Asp
|
|
|
NM_053027.3:c.5589G>T
(MYLK)
|
NP_444255.3:p.Glu1863Asp
|
|
|
NM_053028.3:c.5382G>T
(MYLK)
|
NP_444256.3:p.Glu1794Asp
|
|
|
NM_053031.2:c.459G>T
(MYLK)
|
NP_444259.1:p.Glu153Asp
|
|
|
NM_053032.2:c.462G>T
(MYLK)
|
NP_444260.1:p.Glu154Asp
|
|
|
NR_038266.2:n.290-15386C>A
(MYLK-AS1)
|
|
|
|
NR_121654.1:n.197-15386C>A
(MYLK-AS1)
|
|
|
|
XM_011512860.1:c.5739G>T
(MYLK)
|
XP_011511162.1:p.Glu1913Asp
|
|
|
XM_011512861.1:c.5538G>T
(MYLK)
|
XP_011511163.1:p.Glu1846Asp
|
|
|
XM_011512862.1:c.5214G>T
(MYLK)
|
XP_011511164.1:p.Glu1738Asp
|
|
|
NM_001321309.1:c.5214G>T
(MYLK)
|
NP_001308238.1:p.Glu1738Asp
|
|
|
NM_053031.3:c.459G>T
(MYLK)
|
NP_444259.1:p.Glu153Asp
|
|
|
NM_053032.3:c.462G>T
(MYLK)
|
NP_444260.1:p.Glu154Asp
|
|
|
XM_011512860.3:c.5769G>T
(MYLK)
|
XP_011511162.2:p.Glu1923Asp
|
|
|
XM_011512861.3:c.5568G>T
(MYLK)
|
XP_011511163.2:p.Glu1856Asp
|
|
|
XM_017006469.2:c.2973G>T
(MYLK)
|
XP_016861958.1:p.Glu991Asp
|
|
|
XM_017006470.2:c.2139G>T
(MYLK)
|
XP_016861959.1:p.Glu713Asp
|
|
|
XM_017006471.2:c.2142G>T
(MYLK)
|
XP_016861960.1:p.Glu714Asp
|
|
|
XM_017006472.2:c.462G>T
(MYLK)
|
XP_016861961.1:p.Glu154Asp
|
|
|
XM_017006473.1:c.459G>T
(MYLK)
|
XP_016861962.1:p.Glu153Asp
|
|
|
XM_024453532.1:c.5772G>T
(MYLK)
|
XP_024309300.1:p.Glu1924Asp
|
|
|
XM_024453533.1:c.5742G>T
(MYLK)
|
XP_024309301.1:p.Glu1914Asp
|
|
|
XM_024453534.1:c.5565G>T
(MYLK)
|
XP_024309302.1:p.Glu1855Asp
|
|
|
XM_024453535.1:c.5535G>T
(MYLK)
|
XP_024309303.1:p.Glu1845Asp
|
|
|
XM_024453536.1:c.5742G>T
(MYLK)
|
XP_024309304.1:p.Glu1914Asp
|
|
|
XM_024453537.1:c.5742G>T
(MYLK)
|
XP_024309305.1:p.Glu1914Asp
|
|
|
NM_001321309.2:c.5214G>T
(MYLK)
|
NP_001308238.1:p.Glu1738Asp
|
|
|
NM_053025.4:c.5742G>T
(MYLK)
MANE Select
|
NP_444253.3:p.Glu1914Asp
|
|
|
NM_053026.4:c.5535G>T
(MYLK)
|
NP_444254.3:p.Glu1845Asp
|
|
|
NM_053027.4:c.5589G>T
(MYLK)
|
NP_444255.3:p.Glu1863Asp
|
|
|
NM_053028.4:c.5382G>T
(MYLK)
|
NP_444256.3:p.Glu1794Asp
|
|
|
NM_053031.4:c.459G>T
(MYLK)
|
NP_444259.1:p.Glu153Asp
|
|
|
NM_053032.4:c.462G>T
(MYLK)
|
NP_444260.1:p.Glu154Asp
|
|
