|
ENST00000434676.7:c.*555A>T
(DNM1L)
|
ENSP00000390090.2:n.*555A>T
|
|
|
ENST00000546757.6:c.*875A>T
(DNM1L)
|
ENSP00000448105.2:n.*875A>T
|
|
|
ENST00000547078.6:c.1228A>T
(DNM1L)
|
ENSP00000448802.2:p.Arg410Ter
|
|
|
ENST00000547719.2:n.2822A>T
(DNM1L)
|
|
|
|
ENST00000547932.6:c.*555A>T
(DNM1L)
|
ENSP00000515272.1:n.*555A>T
|
|
|
ENST00000548671.6:c.*736A>T
(DNM1L)
|
ENSP00000515271.1:n.*736A>T
|
|
|
ENST00000548750.6:c.1102A>T
(DNM1L)
|
ENSP00000447788.2:p.Arg368Ter
|
|
|
ENST00000549926.6:c.742A>T
(DNM1L)
|
ENSP00000515263.1:p.Arg248Ter
|
|
|
ENST00000550011.6:c.*1179A>T
(DNM1L)
|
ENSP00000515261.1:n.*1179A>T
|
|
|
ENST00000550093.6:n.1276A>T
(DNM1L)
|
|
|
|
ENST00000551076.6:c.*806A>T
(DNM1L)
|
ENSP00000515275.1:n.*806A>T
|
|
|
ENST00000551476.6:c.1138A>T
(DNM1L)
|
ENSP00000447845.2:p.Arg380Ter
|
|
|
ENST00000551643.6:c.*1020A>T
(DNM1L)
|
ENSP00000450401.1:n.*1020A>T
|
|
|
ENST00000703337.1:c.*986A>T
(DNM1L)
|
ENSP00000515262.1:n.*986A>T
|
|
|
ENST00000703338.1:c.742A>T
(DNM1L)
|
ENSP00000515264.1:p.Arg248Ter
|
|
|
ENST00000703360.1:c.*875A>T
(DNM1L)
|
ENSP00000515270.1:n.*875A>T
|
|
|
ENST00000703361.1:c.820A>T
(DNM1L)
|
ENSP00000515273.1:p.Arg274Ter
|
|
|
ENST00000703362.1:c.*555A>T
(DNM1L)
|
ENSP00000515274.1:n.*555A>T
|
|
|
ENST00000703363.1:n.2810A>T
(DNM1L)
|
|
|
|
ENST00000703364.1:n.2887A>T
(DNM1L)
|
|
|
|
ENST00000703365.1:c.*54A>T
(DNM1L)
|
ENSP00000515276.1:n.*54A>T
|
|
|
ENST00000703366.1:n.2249A>T
(DNM1L)
|
|
|
|
ENST00000703367.1:c.1189A>T
(DNM1L)
|
ENSP00000515277.1:p.Arg397Ter
|
|
|
ENST00000703368.1:c.*736A>T
(DNM1L)
|
ENSP00000515278.1:n.*736A>T
|
|
|
ENST00000703369.1:c.820A>T
(DNM1L)
|
ENSP00000515279.1:p.Arg274Ter
|
|
|
ENST00000703370.1:c.742A>T
(DNM1L)
|
ENSP00000515280.1:p.Arg248Ter
|
|
|
ENST00000703371.1:c.742A>T
(DNM1L)
|
ENSP00000515281.1:p.Arg248Ter
|
|
|
ENST00000703372.1:c.982A>T
(DNM1L)
|
ENSP00000515282.1:p.Arg328Ter
|
|
|
ENST00000549701.6:c.1189A>T
(DNM1L)
MANE Select
|
ENSP00000450399.1:p.Arg397Ter
|
|
|
ENST00000553257.6:c.1228A>T
(DNM1L)
MANE Plus Clinical
|
ENSP00000449089.1:p.Arg410Ter
|
|
|
ENST00000266481.10:c.1189A>T
(DNM1L)
|
ENSP00000266481.6:p.Arg397Ter
|
|
|
ENST00000358214.9:c.1228A>T
(DNM1L)
|
ENSP00000350948.5:p.Arg410Ter
|
|
|
ENST00000381000.8:c.1228A>T
(DNM1L)
|
ENSP00000370388.4:p.Arg410Ter
|
|
|
ENST00000413295.6:c.*438A>T
(DNM1L)
|
ENSP00000396030.2:n.*438A>T
|
|
|
ENST00000414834.6:c.580A>T
(DNM1L)
|
ENSP00000404160.2:p.Arg194Ter
|
|
|
ENST00000452533.6:c.1189A>T
(DNM1L)
|
ENSP00000415131.2:p.Arg397Ter
|
|
|
ENST00000546649.5:c.*431A>T
(DNM1L)
|
ENSP00000448936.1:n.*431A>T
|
|
|
ENST00000546757.5:c.1040A>T
(DNM1L)
|
ENSP00000448105.1:n.1040A>T
|
|
|
ENST00000547312.5:c.1189A>T
(DNM1L)
|
ENSP00000448610.1:p.Arg397Ter
|
|
|
ENST00000549701.5:c.1189A>T
(DNM1L)
|
ENSP00000450399.1:p.Arg397Ter
|
|
|
ENST00000551673.5:n.460-3604T>A
(YARS2)
|
|
|
|
ENST00000553257.5:c.1228A>T
(DNM1L)
|
ENSP00000449089.1:p.Arg410Ter
|
|
|
NM_001278463.1:c.1189A>T
(DNM1L)
|
NP_001265392.1:p.Arg397Ter
|
|
|
NM_001278464.1:c.1228A>T
(DNM1L)
|
NP_001265393.1:p.Arg410Ter
|
|
|
NM_001278465.1:c.1228A>T
(DNM1L)
|
NP_001265394.1:p.Arg410Ter
|
|
|
NM_001278466.1:c.580A>T
(DNM1L)
|
NP_001265395.1:p.Arg194Ter
|
|
|
NM_005690.4:c.1189A>T
(DNM1L)
|
NP_005681.2:p.Arg397Ter
|
|
|
NM_012062.4:c.1189A>T
(DNM1L)
|
NP_036192.2:p.Arg397Ter
|
|
|
NM_012063.3:c.1189A>T
(DNM1L)
|
NP_036193.2:p.Arg397Ter
|
|
|
XM_005253282.3:c.1228A>T
(DNM1L)
|
XP_005253339.1:p.Arg410Ter
|
|
|
XM_005253283.3:c.742A>T
(DNM1L)
|
XP_005253340.1:p.Arg248Ter
|
|
|
XM_011520543.1:c.1228A>T
(DNM1L)
|
XP_011518845.1:p.Arg410Ter
|
|
|
XM_011520544.1:c.532A>T
(DNM1L)
|
XP_011518846.1:p.Arg178Ter
|
|
|
XR_242891.3:n.1832+509T>A
(YARS2)
|
|
|
|
XR_242892.3:n.1650-5758T>A
(YARS2)
|
|
|
|
XR_429036.1:n.1707+509T>A
(YARS2)
|
|
|
|
XR_931297.1:n.1832+509T>A
(YARS2)
|
|
|
|
XR_931298.1:n.1707+509T>A
(YARS2)
|
|
|
|
XR_931299.1:n.1650-3604T>A
(YARS2)
|
|
|
|
NM_001330380.1:c.1228A>T
(DNM1L)
|
NP_001317309.1:p.Arg410Ter
|
|
|
XM_011520543.3:c.1228A>T
(DNM1L)
|
XP_011518845.1:p.Arg410Ter
|
|
|
XM_011520544.2:c.532A>T
(DNM1L)
|
XP_011518846.1:p.Arg178Ter
|
|
|
XM_017018663.2:c.532A>T
(DNM1L)
|
XP_016874152.1:p.Arg178Ter
|
|
|
XM_017018664.1:c.532A>T
(DNM1L)
|
XP_016874153.1:p.Arg178Ter
|
|
|
XM_017018665.1:c.532A>T
(DNM1L)
|
XP_016874154.1:p.Arg178Ter
|
|
|
XR_001748730.2:n.2272-5758T>A
(YARS2)
|
|
|
|
XR_002957331.1:n.2147-3604T>A
(YARS2)
|
|
|
|
XR_242892.5:n.2147-5758T>A
(YARS2)
|
|
|
|
NM_012062.5:c.1189A>T
(DNM1L)
MANE Select
|
NP_036192.2:p.Arg397Ter
|
|
|
NM_001278463.2:c.1189A>T
(DNM1L)
|
NP_001265392.1:p.Arg397Ter
|
|
|
NM_001278464.2:c.1228A>T
(DNM1L)
MANE Plus Clinical
|
NP_001265393.1:p.Arg410Ter
|
|
|
NM_001278465.2:c.1228A>T
(DNM1L)
|
NP_001265394.1:p.Arg410Ter
|
|
|
NM_001278466.2:c.580A>T
(DNM1L)
|
NP_001265395.1:p.Arg194Ter
|
|
|
NM_001330380.2:c.1228A>T
(DNM1L)
|
NP_001317309.1:p.Arg410Ter
|
|
|
NM_005690.5:c.1189A>T
(DNM1L)
|
NP_005681.2:p.Arg397Ter
|
|
|
NM_012063.4:c.1189A>T
(DNM1L)
|
NP_036193.2:p.Arg397Ter
|
|
