|
ENST00000434676.7:c.*446A>T
(DNM1L)
|
ENSP00000390090.2:n.*446A>T
|
|
|
ENST00000546757.6:c.*766A>T
(DNM1L)
|
ENSP00000448105.2:n.*766A>T
|
|
|
ENST00000547078.6:c.1119A>T
(DNM1L)
|
ENSP00000448802.2:p.Leu373=
|
|
|
ENST00000547719.2:n.2713A>T
(DNM1L)
|
|
|
|
ENST00000547932.6:c.*446A>T
(DNM1L)
|
ENSP00000515272.1:n.*446A>T
|
|
|
ENST00000548671.6:c.*627A>T
(DNM1L)
|
ENSP00000515271.1:n.*627A>T
|
|
|
ENST00000548750.6:c.993A>T
(DNM1L)
|
ENSP00000447788.2:p.Leu331=
|
|
|
ENST00000549926.6:c.633A>T
(DNM1L)
|
ENSP00000515263.1:p.Leu211=
|
|
|
ENST00000550011.6:c.*1070A>T
(DNM1L)
|
ENSP00000515261.1:n.*1070A>T
|
|
|
ENST00000550093.6:n.1167A>T
(DNM1L)
|
|
|
|
ENST00000551076.6:c.*697A>T
(DNM1L)
|
ENSP00000515275.1:n.*697A>T
|
|
|
ENST00000551476.6:c.1029A>T
(DNM1L)
|
ENSP00000447845.2:p.Leu343=
|
|
|
ENST00000551643.6:c.*911A>T
(DNM1L)
|
ENSP00000450401.1:n.*911A>T
|
|
|
ENST00000703337.1:c.*877A>T
(DNM1L)
|
ENSP00000515262.1:n.*877A>T
|
|
|
ENST00000703338.1:c.633A>T
(DNM1L)
|
ENSP00000515264.1:p.Leu211=
|
|
|
ENST00000703360.1:c.*766A>T
(DNM1L)
|
ENSP00000515270.1:n.*766A>T
|
|
|
ENST00000703361.1:c.711A>T
(DNM1L)
|
ENSP00000515273.1:p.Leu237=
|
|
|
ENST00000703362.1:c.*446A>T
(DNM1L)
|
ENSP00000515274.1:n.*446A>T
|
|
|
ENST00000703363.1:n.2701A>T
(DNM1L)
|
|
|
|
ENST00000703364.1:n.2778A>T
(DNM1L)
|
|
|
|
ENST00000703365.1:c.1106A>T
(DNM1L)
|
ENSP00000515276.1:p.Asp369Val
|
|
|
ENST00000703366.1:n.2140A>T
(DNM1L)
|
|
|
|
ENST00000703367.1:c.1080A>T
(DNM1L)
|
ENSP00000515277.1:p.Leu360=
|
|
|
ENST00000703368.1:c.*627A>T
(DNM1L)
|
ENSP00000515278.1:n.*627A>T
|
|
|
ENST00000703369.1:c.711A>T
(DNM1L)
|
ENSP00000515279.1:p.Leu237=
|
|
|
ENST00000703370.1:c.633A>T
(DNM1L)
|
ENSP00000515280.1:p.Leu211=
|
|
|
ENST00000703371.1:c.633A>T
(DNM1L)
|
ENSP00000515281.1:p.Leu211=
|
|
|
ENST00000703372.1:c.873A>T
(DNM1L)
|
ENSP00000515282.1:p.Leu291=
|
|
|
ENST00000549701.6:c.1080A>T
(DNM1L)
MANE Select
|
ENSP00000450399.1:p.Leu360=
|
|
|
ENST00000553257.6:c.1119A>T
(DNM1L)
MANE Plus Clinical
|
ENSP00000449089.1:p.Leu373=
|
|
|
ENST00000266481.10:c.1080A>T
(DNM1L)
|
ENSP00000266481.6:p.Leu360=
|
|
|
ENST00000358214.9:c.1119A>T
(DNM1L)
|
ENSP00000350948.5:p.Leu373=
|
|
|
ENST00000381000.8:c.1119A>T
(DNM1L)
|
ENSP00000370388.4:p.Leu373=
|
|
|
ENST00000413295.6:c.*329A>T
(DNM1L)
|
ENSP00000396030.2:n.*329A>T
|
|
|
ENST00000414834.6:c.471A>T
(DNM1L)
|
ENSP00000404160.2:p.Leu157=
|
|
|
ENST00000434676.6:c.*446A>T
(DNM1L)
|
ENSP00000390090.2:n.*446A>T
|
|
|
ENST00000452533.6:c.1080A>T
(DNM1L)
|
ENSP00000415131.2:p.Leu360=
|
|
|
ENST00000546649.5:c.*322A>T
(DNM1L)
|
ENSP00000448936.1:n.*322A>T
|
|
|
ENST00000546757.5:c.931A>T
(DNM1L)
|
ENSP00000448105.1:n.931A>T
|
|
|
ENST00000547312.5:c.1080A>T
(DNM1L)
|
ENSP00000448610.1:p.Leu360=
|
|
|
ENST00000549701.5:c.1080A>T
(DNM1L)
|
ENSP00000450399.1:p.Leu360=
|
|
|
ENST00000551673.5:n.460-3495T>A
(YARS2)
|
|
|
|
ENST00000553257.5:c.1119A>T
(DNM1L)
|
ENSP00000449089.1:p.Leu373=
|
|
|
NM_001278463.1:c.1080A>T
(DNM1L)
|
NP_001265392.1:p.Leu360=
|
|
|
NM_001278464.1:c.1119A>T
(DNM1L)
|
NP_001265393.1:p.Leu373=
|
|
|
NM_001278465.1:c.1119A>T
(DNM1L)
|
NP_001265394.1:p.Leu373=
|
|
|
NM_001278466.1:c.471A>T
(DNM1L)
|
NP_001265395.1:p.Leu157=
|
|
|
NM_005690.4:c.1080A>T
(DNM1L)
|
NP_005681.2:p.Leu360=
|
|
|
NM_012062.4:c.1080A>T
(DNM1L)
|
NP_036192.2:p.Leu360=
|
|
|
NM_012063.3:c.1080A>T
(DNM1L)
|
NP_036193.2:p.Leu360=
|
|
|
XM_005253282.3:c.1119A>T
(DNM1L)
|
XP_005253339.1:p.Leu373=
|
|
|
XM_005253283.3:c.633A>T
(DNM1L)
|
XP_005253340.1:p.Leu211=
|
|
|
XM_011520543.1:c.1119A>T
(DNM1L)
|
XP_011518845.1:p.Leu373=
|
|
|
XM_011520544.1:c.423A>T
(DNM1L)
|
XP_011518846.1:p.Leu141=
|
|
|
XR_242891.3:n.1832+618T>A
(YARS2)
|
|
|
|
XR_242892.3:n.1650-5649T>A
(YARS2)
|
|
|
|
XR_429036.1:n.1707+618T>A
(YARS2)
|
|
|
|
XR_931297.1:n.1832+618T>A
(YARS2)
|
|
|
|
XR_931298.1:n.1707+618T>A
(YARS2)
|
|
|
|
XR_931299.1:n.1650-3495T>A
(YARS2)
|
|
|
|
NM_001330380.1:c.1119A>T
(DNM1L)
|
NP_001317309.1:p.Leu373=
|
|
|
XM_011520543.3:c.1119A>T
(DNM1L)
|
XP_011518845.1:p.Leu373=
|
|
|
XM_011520544.2:c.423A>T
(DNM1L)
|
XP_011518846.1:p.Leu141=
|
|
|
XM_017018663.2:c.423A>T
(DNM1L)
|
XP_016874152.1:p.Leu141=
|
|
|
XM_017018664.1:c.423A>T
(DNM1L)
|
XP_016874153.1:p.Leu141=
|
|
|
XM_017018665.1:c.423A>T
(DNM1L)
|
XP_016874154.1:p.Leu141=
|
|
|
XR_001748730.2:n.2272-5649T>A
(YARS2)
|
|
|
|
XR_002957331.1:n.2147-3495T>A
(YARS2)
|
|
|
|
XR_242892.5:n.2147-5649T>A
(YARS2)
|
|
|
|
NM_012062.5:c.1080A>T
(DNM1L)
MANE Select
|
NP_036192.2:p.Leu360=
|
|
|
NM_001278463.2:c.1080A>T
(DNM1L)
|
NP_001265392.1:p.Leu360=
|
|
|
NM_001278464.2:c.1119A>T
(DNM1L)
MANE Plus Clinical
|
NP_001265393.1:p.Leu373=
|
|
|
NM_001278465.2:c.1119A>T
(DNM1L)
|
NP_001265394.1:p.Leu373=
|
|
|
NM_001278466.2:c.471A>T
(DNM1L)
|
NP_001265395.1:p.Leu157=
|
|
|
NM_001330380.2:c.1119A>T
(DNM1L)
|
NP_001317309.1:p.Leu373=
|
|
|
NM_005690.5:c.1080A>T
(DNM1L)
|
NP_005681.2:p.Leu360=
|
|
|
NM_012063.4:c.1080A>T
(DNM1L)
|
NP_036193.2:p.Leu360=
|
|
