ENST00000502371.3:c.1409-6053G>C
|
ENSP00000484935.2:n.1409-6053G>C
|
|
ENST00000504915.3:c.1723G>C
|
ENSP00000473355.2:p.Val575Leu
|
|
ENST00000505084.2:n.1725G>C
|
|
|
ENST00000505350.2:c.*1675G>C
|
ENSP00000481752.1:n.*1675G>C
|
|
ENST00000507379.6:c.1615G>C
|
ENSP00000423224.2:p.Val539Leu
|
|
ENST00000509732.6:c.1669G>C
|
ENSP00000426541.2:p.Val557Leu
|
|
ENST00000512211.7:c.1669G>C
|
ENSP00000423828.3:p.Val557Leu
|
|
ENST00000257430.9:c.1669G>C
MANE Select
|
ENSP00000257430.4:p.Val557Leu
|
|
ENST00000257430.8:c.1669G>C
|
ENSP00000257430.4:p.Val557Leu
|
|
ENST00000502371.2:c.97-6053G>C
|
|
|
ENST00000504915.2:c.358G>C
|
ENSP00000473355.1:p.Val120Leu
|
|
ENST00000505084.1:n.156G>C
|
|
|
ENST00000507379.5:c.1615G>C
|
ENSP00000423224.1:p.Val539Leu
|
|
ENST00000508376.6:c.1669G>C
|
ENSP00000427089.2:p.Val557Leu
|
|
ENST00000508624.5:c.*991G>C
|
ENSP00000424265.1:n.*991G>C
|
|
ENST00000512211.6:c.1669G>C
|
ENSP00000423828.2:p.Val557Leu
|
|
ENST00000520401.1:c.156G>C
|
|
|
NM_000038.5:c.1669G>C
|
NP_000029.2:p.Val557Leu
|
|
NM_001127510.2:c.1669G>C
|
NP_001120982.1:p.Val557Leu
|
|
NM_001127511.2:c.1615G>C
|
NP_001120983.2:p.Val539Leu
|
|
NM_001354895.1:c.1669G>C
|
NP_001341824.1:p.Val557Leu
|
|
NM_001354896.1:c.1723G>C
|
NP_001341825.1:p.Val575Leu
|
|
NM_001354897.1:c.1699G>C
|
NP_001341826.1:p.Val567Leu
|
|
NM_001354898.1:c.1594G>C
|
NP_001341827.1:p.Val532Leu
|
|
NM_001354899.1:c.1585G>C
|
NP_001341828.1:p.Val529Leu
|
|
NM_001354900.1:c.1546G>C
|
NP_001341829.1:p.Val516Leu
|
|
NM_001354901.1:c.1492G>C
|
NP_001341830.1:p.Val498Leu
|
|
NM_001354902.1:c.1396G>C
|
NP_001341831.1:p.Val466Leu
|
|
NM_001354903.1:c.1366G>C
|
NP_001341832.1:p.Val456Leu
|
|
NM_001354904.1:c.1291G>C
|
NP_001341833.1:p.Val431Leu
|
|
NM_001354905.1:c.1189G>C
|
NP_001341834.1:p.Val397Leu
|
|
NM_001354906.1:c.820G>C
|
NP_001341835.1:p.Val274Leu
|
|
NM_000038.6:c.1669G>C
MANE Select
|
NP_000029.2:p.Val557Leu
|
|
NM_001127510.3:c.1669G>C
|
NP_001120982.1:p.Val557Leu
|
|
NM_001127511.3:c.1615G>C
|
NP_001120983.2:p.Val539Leu
|
|
NM_001354895.2:c.1669G>C
|
NP_001341824.1:p.Val557Leu
|
|
NM_001354896.2:c.1723G>C
|
NP_001341825.1:p.Val575Leu
|
|
NM_001354897.2:c.1699G>C
|
NP_001341826.1:p.Val567Leu
|
|
NM_001354898.2:c.1594G>C
|
NP_001341827.1:p.Val532Leu
|
|
NM_001354899.2:c.1585G>C
|
NP_001341828.1:p.Val529Leu
|
|
NM_001354900.2:c.1546G>C
|
NP_001341829.1:p.Val516Leu
|
|
NM_001354901.2:c.1492G>C
|
NP_001341830.1:p.Val498Leu
|
|
NM_001354902.2:c.1396G>C
|
NP_001341831.1:p.Val466Leu
|
|
NM_001354903.2:c.1366G>C
|
NP_001341832.1:p.Val456Leu
|
|
NM_001354904.2:c.1291G>C
|
NP_001341833.1:p.Val431Leu
|
|
NM_001354905.2:c.1189G>C
|
NP_001341834.1:p.Val397Leu
|
|
NM_001354906.2:c.820G>C
|
NP_001341835.1:p.Val274Leu
|
|