|
ENST00000334571.7:c.1383del
(COQ6)
MANE Select
|
ENSP00000333946.2:p.Ile462LeufsTer18
|
|
|
ENST00000238709.8:c.1380del
(COQ6)
|
ENSP00000238709.5:p.Ile461LeufsTer18
|
|
|
ENST00000334571.6:c.1383del
(COQ6)
|
ENSP00000333946.2:p.Ile462LeufsTer18
|
|
|
ENST00000334696.10:c.*3953del
(ENTPD5)
|
ENSP00000335246.6:n.*3953del
|
|
|
ENST00000394026.8:c.1308del
(COQ6)
|
ENSP00000377594.4:p.Ile437LeufsTer18
|
|
|
ENST00000554341.6:c.*983-1del
(COQ6)
|
ENSP00000450736.2:n.*983-1del
|
|
|
ENST00000554920.5:c.487del
(COQ6)
|
ENSP00000451562.1:p.Asp163IlefsTer8
|
|
|
ENST00000555829.5:c.225-1425del
(ENTPD5)
|
|
|
|
ENST00000556299.1:n.594del
(COQ6)
|
|
|
|
ENST00000556588.5:n.2983del
(COQ6)
|
|
|
|
ENST00000557325.5:c.1201-3422del
(ENTPD5)
|
ENSP00000451810.1:n.1201-3422del
|
|
|
ENST00000557780.5:n.349del
(COQ6)
|
|
|
|
ENST00000629426.2:c.1158del
(COQ6)
|
ENSP00000486650.1:p.Ile387LeufsTer18
|
|
|
NM_182476.2:c.1383del
(COQ6)
|
NP_872282.1:p.Ile462LeufsTer18
|
|
|
NM_182480.2:c.1308del
(COQ6)
|
NP_872286.2:p.Ile437LeufsTer18
|
|
|
XM_005267716.1:c.1218del
(COQ6)
|
XP_005267773.1:p.Ile407LeufsTer18
|
|
|
XM_006720156.1:c.1056del
(COQ6)
|
XP_006720219.1:p.Ile353LeufsTer18
|
|
|
XM_006720325.2:c.1201-3422del
(ENTPD5)
|
XP_006720388.1:n.1201-3422del
|
|
|
XM_011536807.1:c.1275del
(COQ6)
|
XP_011535109.1:p.Ile426LeufsTer18
|
|
|
XM_011536808.1:c.1158del
(COQ6)
|
XP_011535110.1:p.Ile387LeufsTer18
|
|
|
XM_011536809.1:c.1158del
(COQ6)
|
XP_011535111.1:p.Ile387LeufsTer18
|
|
|
XM_011536810.1:c.897del
(COQ6)
|
XP_011535112.1:p.Ile300LeufsTer18
|
|
|
XM_011536811.1:c.843del
(COQ6)
|
XP_011535113.1:p.Ile282LeufsTer18
|
|
|
NM_001321984.1:c.1201-1425del
(ENTPD5)
|
NP_001308913.1:n.1201-1425del
|
|
|
NM_001330189.1:c.1201-3422del
(ENTPD5)
|
NP_001317118.1:n.1201-3422del
|
|
|
XM_006720325.3:c.1201-3422del
(ENTPD5)
|
XP_006720388.1:n.1201-3422del
|
|
|
XM_011536807.2:c.1275del
(COQ6)
|
XP_011535109.1:p.Ile426LeufsTer18
|
|
|
XM_011536808.2:c.1158del
(COQ6)
|
XP_011535110.1:p.Ile387LeufsTer18
|
|
|
XM_011536809.3:c.1158del
(COQ6)
|
XP_011535111.1:p.Ile387LeufsTer18
|
|
|
XM_011536810.3:c.897del
(COQ6)
|
XP_011535112.1:p.Ile300LeufsTer18
|
|
|
XM_017021351.2:c.843del
(COQ6)
|
XP_016876840.1:p.Ile282LeufsTer18
|
|
|
XM_017021352.2:c.777del
(COQ6)
|
XP_016876841.1:p.Ile260LeufsTer18
|
|
|
XM_017021814.1:c.1201-3422del
(ENTPD5)
|
XP_016877303.1:n.1201-3422del
|
|
|
XM_017021817.1:c.1060-3422del
(ENTPD5)
|
XP_016877306.1:n.1060-3422del
|
|
|
XM_024449619.1:c.777del
(COQ6)
|
XP_024305387.1:p.Ile260LeufsTer18
|
|
|
XR_001750342.1:n.1537del
(COQ6)
|
|
|
|
NM_001249.4:c.*3953del
(ENTPD5)
|
NP_001240.1:n.*3953del
|
|
|
NM_001321984.2:c.1201-1425del
(ENTPD5)
|
NP_001308913.1:n.1201-1425del
|
|
|
NM_001321985.2:c.*3953del
(ENTPD5)
|
NP_001308914.1:n.*3953del
|
|
|
NM_001321986.2:c.*3953del
(ENTPD5)
|
NP_001308915.1:n.*3953del
|
|
|
NM_001321987.2:c.*3953del
(ENTPD5)
|
NP_001308916.1:n.*3953del
|
|
|
NM_001321988.2:c.*3953del
(ENTPD5)
|
NP_001308917.1:n.*3953del
|
|
|
NM_001330189.2:c.1201-3422del
(ENTPD5)
|
NP_001317118.1:n.1201-3422del
|
|
|
NM_182476.3:c.1383del
(COQ6)
MANE Select
|
NP_872282.1:p.Ile462LeufsTer18
|
|
|
NM_001382258.1:c.1200+7035del
(ENTPD5)
|
NP_001369187.1:n.1200+7035del
|
|
|
NM_001382259.1:c.1201-3422del
(ENTPD5)
|
NP_001369188.1:n.1201-3422del
|
|
|
NM_001382260.1:c.1201-3422del
(ENTPD5)
|
NP_001369189.1:n.1201-3422del
|
|
|
NM_001382262.1:c.1200+7035del
(ENTPD5)
|
NP_001369191.1:n.1200+7035del
|
|
|
NM_182480.3:c.1308del
(COQ6)
|
NP_872286.2:p.Ile437LeufsTer18
|
|
