|
ENST00000478995.2:n.1441G>T
|
|
|
|
ENST00000488970.2:n.1439G>T
|
|
|
|
ENST00000695614.1:c.1281G>T
|
ENSP00000512053.1:p.Val427=
|
|
|
ENST00000695615.1:c.1281G>T
|
ENSP00000512054.1:p.Val427=
|
|
|
ENST00000695616.1:c.*1126G>T
|
ENSP00000512055.1:n.*1126G>T
|
|
|
ENST00000695617.1:c.1278G>T
|
ENSP00000512056.1:p.Val426=
|
|
|
ENST00000695618.1:c.*1030G>T
|
ENSP00000512058.1:n.*1030G>T
|
|
|
ENST00000695619.1:c.*991G>T
|
ENSP00000512059.1:n.*991G>T
|
|
|
ENST00000695620.1:c.*1126G>T
|
ENSP00000512060.1:n.*1126G>T
|
|
|
ENST00000695621.1:c.1281G>T
|
ENSP00000512061.1:p.Val427=
|
|
|
ENST00000695622.1:c.1218G>T
|
ENSP00000512062.1:p.Val406=
|
|
|
ENST00000695623.1:c.1275G>T
|
ENSP00000512063.1:p.Val425=
|
|
|
ENST00000695624.1:n.586G>T
|
|
|
|
ENST00000695625.1:c.1281G>T
|
ENSP00000512064.1:p.Val427=
|
|
|
ENST00000695626.1:c.253G>T
|
ENSP00000512065.1:p.Gly85Cys
|
|
|
ENST00000695627.1:c.294G>T
|
ENSP00000512066.1:p.Val98=
|
|
|
ENST00000695628.1:c.190+657G>T
|
ENSP00000512067.1:n.190+657G>T
|
|
|
ENST00000695629.1:c.190+657G>T
|
ENSP00000512068.1:n.190+657G>T
|
|
|
ENST00000695630.1:c.290G>T
|
|
|
|
ENST00000695631.1:c.114+1458G>T
|
|
|
|
ENST00000695632.1:n.298G>T
|
|
|
|
ENST00000703407.1:c.1038+1522G>T
|
ENSP00000512057.1:n.1038+1522G>T
|
|
|
ENST00000308731.8:c.1281G>T
MANE Select
|
ENSP00000308176.8:p.Val427=
|
|
|
ENST00000308731.7:c.1281G>T
|
ENSP00000308176.7:p.Val427=
|
|
|
ENST00000372880.5:c.1038+1522G>T
|
ENSP00000361971.1:n.1038+1522G>T
|
|
|
ENST00000470329.1:n.231G>T
|
|
|
|
ENST00000618050.4:c.1281G>T
|
ENSP00000479125.1:p.Val427=
|
|
|
ENST00000621635.4:c.1383G>T
|
ENSP00000483570.1:p.Val461=
|
|
|
NM_000061.2:c.1281G>T , LRG_128t1:c.1281G>T
|
NP_000052.1:p.Val427=
|
|
|
NM_001287344.1:c.1383G>T
|
NP_001274273.1:p.Val461=
|
|
|
NM_001287345.1:c.1038+1522G>T
|
NP_001274274.1:n.1038+1522G>T
|
|
|
NM_000061.3:c.1281G>T
MANE Select
|
NP_000052.1:p.Val427=
|
|
|
NM_001287344.2:c.1383G>T
|
NP_001274273.1:p.Val461=
|
|
|
NM_001287345.2:c.1038+1522G>T
|
NP_001274274.1:n.1038+1522G>T
|
|
