|
ENST00000473665.2:n.5996G>C
|
|
|
|
ENST00000482662.2:n.4403G>C
|
|
|
|
ENST00000685865.1:n.2355G>C
|
|
|
|
ENST00000687250.1:n.2055G>C
|
|
|
|
ENST00000687995.1:n.1870G>C
|
|
|
|
ENST00000688205.1:c.*1111G>C
|
ENSP00000509673.1:n.*1111G>C
|
|
|
ENST00000688788.1:n.1757G>C
|
|
|
|
ENST00000689276.1:c.1449G>C
|
ENSP00000510012.1:p.Leu483Phe
|
|
|
ENST00000689576.1:c.*137G>C
|
ENSP00000508712.1:n.*137G>C
|
|
|
ENST00000690108.1:c.*1174G>C
|
ENSP00000510617.1:n.*1174G>C
|
|
|
ENST00000690468.1:c.*70G>C
|
ENSP00000509078.1:n.*70G>C
|
|
|
ENST00000690595.1:c.843G>C
|
ENSP00000508979.1:p.Leu281Phe
|
|
|
ENST00000691348.1:c.*70G>C
|
ENSP00000509369.1:n.*70G>C
|
|
|
ENST00000691410.1:c.*1095G>C
|
ENSP00000508479.1:n.*1095G>C
|
|
|
ENST00000693287.1:c.834G>C
|
ENSP00000510264.1:p.Leu278Phe
|
|
|
ENST00000693681.1:c.831G>C
|
ENSP00000510789.1:p.Leu277Phe
|
|
|
ENST00000233838.9:c.1518G>C
MANE Select
|
ENSP00000233838.3:p.Leu506Phe
|
|
|
ENST00000233838.8:c.1518G>C
|
ENSP00000233838.3:p.Leu506Phe
|
|
|
ENST00000430215.7:c.1347G>C
|
ENSP00000408045.3:p.Leu449Phe
|
|
|
ENST00000465637.5:n.179-3899G>C
|
|
|
|
NM_000821.5:c.1518G>C
|
NP_000812.2:p.Leu506Phe
|
|
|
NM_000821.6:c.1518G>C
|
NP_000812.2:p.Leu506Phe
|
|
|
NM_001142269.2:c.1347G>C
|
NP_001135741.1:p.Leu449Phe
|
|
|
NM_001142269.3:c.1347G>C
|
NP_001135741.1:p.Leu449Phe
|
|
|
XM_005264259.3:c.1518G>C
|
XP_005264316.1:p.Leu506Phe
|
|
|
XM_011532764.1:c.696G>C
|
XP_011531066.1:p.Leu232Phe
|
|
|
XM_011532765.1:c.696G>C
|
XP_011531067.1:p.Leu232Phe
|
|
|
XR_939677.1:n.1431G>C
|
|
|
|
XM_005264259.5:c.1518G>C
|
XP_005264316.1:p.Leu506Phe
|
|
|
XM_011532764.3:c.696G>C
|
XP_011531066.1:p.Leu232Phe
|
|
|
XM_011532765.3:c.696G>C
|
XP_011531067.1:p.Leu232Phe
|
|
|
XM_017003803.2:c.1347G>C
|
XP_016859292.1:p.Leu449Phe
|
|
|
XR_001738703.2:n.1431G>C
|
|
|
|
NM_000821.7:c.1518G>C
MANE Select
|
NP_000812.2:p.Leu506Phe
|
|
|
NM_001142269.4:c.1347G>C
|
NP_001135741.1:p.Leu449Phe
|
|
