|
ENST00000348911.11:c.4461G>C
|
ENSP00000252027.8:p.Leu1487=
|
|
|
ENST00000418590.4:c.171G>C
|
ENSP00000401538.2:p.Leu57=
|
|
|
ENST00000470434.2:n.861G>C
|
|
|
|
ENST00000684986.1:c.4542G>C
|
ENSP00000509117.1:p.Leu1514=
|
|
|
ENST00000685180.1:n.2488+5295G>C
|
|
|
|
ENST00000685390.1:n.2507G>C
|
|
|
|
ENST00000685411.1:n.208G>C
|
|
|
|
ENST00000685592.1:c.773G>C
|
|
|
|
ENST00000685809.1:c.4452G>C
|
ENSP00000508863.1:p.Leu1484=
|
|
|
ENST00000686029.1:c.617G>C
|
|
|
|
ENST00000686191.1:n.3739G>C
|
|
|
|
ENST00000686222.1:c.*3961G>C
|
ENSP00000508737.1:n.*3961G>C
|
|
|
ENST00000686321.1:c.635G>C
|
|
|
|
ENST00000686427.1:c.*1474G>C
|
ENSP00000510379.1:n.*1474G>C
|
|
|
ENST00000686758.1:n.2201G>C
|
|
|
|
ENST00000686801.1:c.4527G>C
|
ENSP00000509915.1:p.Leu1509=
|
|
|
ENST00000686826.1:n.858G>C
|
|
|
|
ENST00000687016.1:c.4440G>C
|
ENSP00000509074.1:p.Leu1480=
|
|
|
ENST00000687704.1:c.*2264G>C
|
ENSP00000510454.1:n.*2264G>C
|
|
|
ENST00000688066.1:c.4539G>C
|
ENSP00000510782.1:p.Leu1513=
|
|
|
ENST00000688124.1:c.*3457G>C
|
ENSP00000510645.1:n.*3457G>C
|
|
|
ENST00000688848.1:c.*3883G>C
|
ENSP00000509419.1:n.*3883G>C
|
|
|
ENST00000688985.1:c.1540G>C
|
ENSP00000510477.1:n.1540G>C
|
|
|
ENST00000689129.1:c.4464G>C
|
ENSP00000510414.1:p.Leu1488=
|
|
|
ENST00000689177.1:n.5811G>C
|
|
|
|
ENST00000689849.1:c.635G>C
|
|
|
|
ENST00000689981.1:c.4539G>C
|
ENSP00000509035.1:p.Leu1513=
|
|
|
ENST00000690369.1:n.4557G>C
|
|
|
|
ENST00000690590.1:n.1586G>C
|
|
|
|
ENST00000690990.1:c.4533G>C
|
ENSP00000510461.1:p.Leu1511=
|
|
|
ENST00000691233.1:c.4458G>C
|
ENSP00000509215.1:p.Leu1486=
|
|
|
ENST00000691306.1:c.637G>C
|
|
|
|
ENST00000691345.1:n.2302+977G>C
|
|
|
|
ENST00000691792.1:c.4539G>C
|
ENSP00000509911.1:p.Leu1513=
|
|
|
ENST00000691959.1:n.5258G>C
|
|
|
|
ENST00000692844.1:n.1623G>C
|
|
|
|
ENST00000692946.1:c.635G>C
|
|
|
|
ENST00000693052.1:c.4557G>C
|
ENSP00000509558.1:p.Leu1519=
|
|
|
ENST00000693289.1:n.1698G>C
|
|
|
|
ENST00000693440.1:c.4536G>C
|
ENSP00000509462.1:p.Leu1512=
|
|
|
ENST00000693499.1:n.5464G>C
|
|
|
|
ENST00000693591.1:n.3276G>C
|
|
|
|
ENST00000380817.8:c.4539G>C
MANE Select
|
ENSP00000370196.2:p.Leu1513=
|
|
|
ENST00000348911.10:c.4464G>C
|
ENSP00000252027.7:p.Leu1488=
|
|
|
ENST00000380817.7:c.4539G>C
|
ENSP00000370196.2:p.Leu1513=
|
|
|
ENST00000418590.3:c.139G>C
|
|
|
|
ENST00000470434.1:n.680G>C
|
|
|
|
NM_002972.3:c.4539G>C
|
NP_002963.2:p.Leu1513=
|
|
|
XM_005261931.1:c.4542G>C
|
XP_005261988.1:p.Leu1514=
|
|
|
XM_005261935.1:c.4461G>C
|
XP_005261992.1:p.Leu1487=
|
|
|
XM_011530707.1:c.4641G>C
|
XP_011529009.1:p.Leu1547=
|
|
|
XM_011530708.1:c.4593G>C
|
XP_011529010.1:p.Leu1531=
|
|
|
XM_011530709.1:c.4569G>C
|
XP_011529011.1:p.Leu1523=
|
|
|
XM_011530710.1:c.4566G>C
|
XP_011529012.1:p.Leu1522=
|
|
|
XM_011530711.1:c.4566G>C
|
XP_011529013.1:p.Leu1522=
|
|
|
XR_938344.1:n.4659G>C
|
|
|
|
NM_001365819.1:c.4464G>C
|
NP_001352748.1:p.Leu1488=
|
|
|
XM_005261935.2:c.4461G>C
|
XP_005261992.1:p.Leu1487=
|
|
|
XM_011530709.2:c.4569G>C
|
XP_011529011.1:p.Leu1523=
|
|
|
XM_011530710.2:c.4566G>C
|
XP_011529012.1:p.Leu1522=
|
|
|
XM_017028905.2:c.4491G>C
|
XP_016884394.1:p.Leu1497=
|
|
|
NM_002972.4:c.4539G>C
MANE Select
|
NP_002963.2:p.Leu1513=
|
|
