|
ENST00000636937.2:c.*330G>A
(POLG)
|
ENSP00000516154.1:n.*330G>A
|
|
|
ENST00000696717.1:c.3670C>T
(FANCI)
|
ENSP00000512830.1:p.Gln1224Ter
|
|
|
ENST00000696718.1:c.3412C>T
(FANCI)
|
ENSP00000512831.1:p.Gln1138Ter
|
|
|
ENST00000696719.1:c.3949C>T
(FANCI)
|
ENSP00000512832.1:p.Gln1317Ter
|
|
|
ENST00000696721.1:n.5534C>T
(FANCI)
|
|
|
|
ENST00000268124.11:c.*330G>A
(POLG)
MANE Select
|
ENSP00000268124.5:n.*330G>A
|
|
|
ENST00000310775.12:c.3949C>T
(FANCI)
MANE Select
|
ENSP00000310842.8:p.Gln1317Ter
|
|
|
ENST00000530292.3:c.3750G>A
(POLG)
|
ENSP00000432885.2:n.3750G>A
|
|
|
ENST00000635831.1:c.73+285G>A
(POLG)
|
|
|
|
ENST00000635986.2:c.*1120G>A
(POLG)
|
ENSP00000490653.2:n.*1120G>A
|
|
|
ENST00000637238.1:c.2958G>A
(POLG)
|
ENSP00000490756.1:n.2958G>A
|
|
|
ENST00000637264.1:c.3062G>A
(POLG)
|
|
|
|
ENST00000666746.1:c.3627G>A
(POLG)
|
|
|
|
ENST00000672071.1:n.5252G>A
(POLG)
|
|
|
|
ENST00000672695.1:n.1829G>A
(POLG)
|
|
|
|
ENST00000672923.2:n.4050G>A
(POLG)
|
|
|
|
ENST00000674831.1:c.4081C>T
(FANCI)
|
ENSP00000502474.1:p.Gln1361Ter
|
|
|
ENST00000675352.1:n.3154C>T
(FANCI)
|
|
|
|
ENST00000676003.1:c.3907C>T
(FANCI)
|
ENSP00000502254.1:p.Gln1303Ter
|
|
|
ENST00000676110.1:n.3530C>T
(FANCI)
|
|
|
|
ENST00000268124.9:c.*330G>A
(POLG)
|
ENSP00000268124.5:n.*330G>A
|
|
|
ENST00000300027.12:c.3769C>T
(FANCI)
|
ENSP00000300027.8:p.Gln1257Ter
|
|
|
ENST00000310775.11:c.3949C>T
(FANCI)
|
ENSP00000310842.7:p.Gln1317Ter
|
|
|
ENST00000442287.6:c.*330G>A
(POLG)
|
ENSP00000399851.2:n.*330G>A
|
|
|
ENST00000447611.6:c.*293C>T
(FANCI)
|
ENSP00000413249.2:n.*293C>T
|
|
|
ENST00000530292.2:c.1233G>A
(POLG)
|
ENSP00000432885.1:n.1233G>A
|
|
|
ENST00000561894.1:c.3245C>T
(FANCI)
|
|
|
|
ENST00000566615.1:n.532C>T
(FANCI)
|
|
|
|
ENST00000566895.5:n.3956C>T
(FANCI)
|
|
|
|
ENST00000631044.2:c.*3474G>A
(POLG)
|
ENSP00000486730.1:n.*3474G>A
|
|
|
NM_001113378.1:c.3949C>T , LRG_500t1:c.3949C>T
(FANCI)
|
NP_001106849.1:p.Gln1317Ter
|
|
|
NM_001126131.1:c.*330G>A
(POLG)
|
NP_001119603.1:n.*330G>A
|
|
|
NM_002693.2:c.*330G>A
(POLG)
|
NP_002684.1:n.*330G>A
|
|
|
NM_018193.2:c.3769C>T
(FANCI)
|
NP_060663.2:p.Gln1257Ter
|
|
|
XM_011521756.1:c.3949C>T
(FANCI)
|
XP_011520058.1:p.Gln1317Ter
|
|
|
XM_011521757.1:c.3949C>T
(FANCI)
|
XP_011520059.1:p.Gln1317Ter
|
|
|
XM_011521758.1:c.3949C>T
(FANCI)
|
XP_011520060.1:p.Gln1317Ter
|
|
|
XM_011521759.1:c.3949C>T
(FANCI)
|
XP_011520061.1:p.Gln1317Ter
|
|
|
XM_011521760.1:c.3949C>T
(FANCI)
|
XP_011520062.1:p.Gln1317Ter
|
|
|
XM_011521761.1:c.3949C>T
(FANCI)
|
XP_011520063.1:p.Gln1317Ter
|
|
|
XM_011521762.1:c.3949C>T
(FANCI)
|
XP_011520064.1:p.Gln1317Ter
|
|
|
XM_011521763.1:c.3907C>T
(FANCI)
|
XP_011520065.1:p.Gln1303Ter
|
|
|
XM_011521764.1:c.3769C>T
(FANCI)
|
XP_011520066.1:p.Gln1257Ter
|
|
|
XM_011521765.1:c.3670C>T
(FANCI)
|
XP_011520067.1:p.Gln1224Ter
|
|
|
XM_011521766.1:c.3670C>T
(FANCI)
|
XP_011520068.1:p.Gln1224Ter
|
|
|
XM_011521767.1:c.3670C>T
(FANCI)
|
XP_011520069.1:p.Gln1224Ter
|
|
|
XM_011521769.1:c.3604C>T
(FANCI)
|
XP_011520071.1:p.Gln1202Ter
|
|
|
XM_011521756.2:c.3949C>T
(FANCI)
|
XP_011520058.1:p.Gln1317Ter
|
|
|
XM_011521757.2:c.3949C>T
(FANCI)
|
XP_011520059.1:p.Gln1317Ter
|
|
|
XM_011521764.2:c.3769C>T
(FANCI)
|
XP_011520066.1:p.Gln1257Ter
|
|
|
XM_011521767.2:c.3670C>T
(FANCI)
|
XP_011520069.1:p.Gln1224Ter
|
|
|
NM_001113378.2:c.3949C>T
(FANCI)
MANE Select
|
NP_001106849.1:p.Gln1317Ter
|
|
|
NM_001126131.2:c.*330G>A
(POLG)
|
NP_001119603.1:n.*330G>A
|
|
|
NM_001376910.1:c.3670C>T
(FANCI)
|
NP_001363839.1:p.Gln1224Ter
|
|
|
NM_001376911.1:c.3949C>T
(FANCI)
|
NP_001363840.1:p.Gln1317Ter
|
|
|
NM_018193.3:c.3769C>T
(FANCI)
|
NP_060663.2:p.Gln1257Ter
|
|
|
NM_002693.3:c.*330G>A
(POLG)
MANE Select
|
NP_002684.1:n.*330G>A
|
|
