|
ENST00000313771.10:n.1310T>G
|
|
|
|
ENST00000355740.8:c.*324T>G
|
ENSP00000347979.3:n.*324T>G
|
|
|
ENST00000357339.7:c.938T>G
|
ENSP00000349896.2:p.Leu313Trp
|
|
|
ENST00000371857.8:n.2546T>G
|
|
|
|
ENST00000460510.6:c.284T>G
|
ENSP00000512812.1:p.Leu95Trp
|
|
|
ENST00000466081.6:n.2650T>G
|
|
|
|
ENST00000477270.6:c.1046T>G
|
ENSP00000512813.1:p.Leu349Trp
|
|
|
ENST00000479522.6:c.*430T>G
|
ENSP00000424113.1:n.*430T>G
|
|
|
ENST00000484444.6:c.*442T>G
|
ENSP00000420975.1:n.*442T>G
|
|
|
ENST00000488877.6:c.892T>G
|
ENSP00000425159.1:n.892T>G
|
|
|
ENST00000492756.7:c.*430T>G
|
ENSP00000422453.1:n.*430T>G
|
|
|
ENST00000494799.6:c.284T>G
|
ENSP00000512834.1:p.Leu95Trp
|
|
|
ENST00000562983.3:c.284T>G
|
ENSP00000512845.1:p.Leu95Trp
|
|
|
ENST00000612663.6:c.*403T>G
|
ENSP00000477997.3:n.*403T>G
|
|
|
ENST00000640140.2:n.1146T>G
|
|
|
|
ENST00000640250.2:n.500T>G
|
|
|
|
ENST00000640681.2:n.1105T>G
|
|
|
|
ENST00000696723.1:n.4634T>G
|
|
|
|
ENST00000696741.1:n.2639T>G
|
|
|
|
ENST00000696742.1:n.2366T>G
|
|
|
|
ENST00000696743.1:n.3769T>G
|
|
|
|
ENST00000696744.1:n.1040T>G
|
|
|
|
ENST00000696767.1:n.1335T>G
|
|
|
|
ENST00000696768.1:c.*324T>G
|
ENSP00000512859.1:n.*324T>G
|
|
|
ENST00000696769.1:n.2690T>G
|
|
|
|
ENST00000696771.1:c.284T>G
|
ENSP00000512860.1:p.Leu95Trp
|
|
|
ENST00000696772.1:n.2604T>G
|
|
|
|
ENST00000696773.1:n.2343T>G
|
|
|
|
ENST00000696774.1:n.6111T>G
|
|
|
|
ENST00000696776.1:c.1094T>G
|
ENSP00000512861.1:p.Leu365Trp
|
|
|
ENST00000696777.1:n.2409T>G
|
|
|
|
ENST00000696778.1:n.1437T>G
|
|
|
|
ENST00000696779.1:c.608T>G
|
ENSP00000512862.1:p.Leu203Trp
|
|
|
ENST00000696780.1:c.1031T>G
|
ENSP00000512863.1:p.Leu344Trp
|
|
|
ENST00000696781.1:c.746T>G
|
ENSP00000512864.1:p.Leu249Trp
|
|
|
ENST00000696782.1:c.*403T>G
|
ENSP00000512865.1:n.*403T>G
|
|
|
ENST00000696783.1:n.2869T>G
|
|
|
|
ENST00000696992.1:n.2118T>G
|
|
|
|
ENST00000696995.1:n.4530T>G
|
|
|
|
ENST00000696996.1:n.2443T>G
|
|
|
|
ENST00000696997.1:c.*631T>G
|
ENSP00000513028.1:n.*631T>G
|
|
|
ENST00000696998.1:n.2255T>G
|
|
|
|
ENST00000696999.1:c.284T>G
|
ENSP00000513029.1:p.Leu95Trp
|
|
|
ENST00000697036.1:c.*417T>G
|
ENSP00000513060.1:n.*417T>G
|
|
|
ENST00000697037.1:n.1036T>G
|
|
|
|
ENST00000697093.1:n.3237T>G
|
|
|
|
ENST00000697094.1:n.3584T>G
|
|
|
|
ENST00000697095.1:c.*2202T>G
|
ENSP00000513104.1:n.*2202T>G
|
|
|
ENST00000697096.1:n.2134T>G
|
|
|
|
ENST00000697097.1:c.284T>G
|
ENSP00000513105.1:p.Leu95Trp
|
|
|
ENST00000562983.2:n.1187T>G
|
|
|
|
ENST00000690268.1:c.1082T>G
|
ENSP00000509810.1:p.Leu361Trp
|
|
|
ENST00000355740.7:c.*327T>G
|
ENSP00000347979.3:n.*327T>G
|
|
|
ENST00000612663.5:c.*403T>G
|
ENSP00000477997.3:n.*403T>G
|
|
|
ENST00000640140.1:n.1173T>G
|
|
|
|
ENST00000640250.1:n.500T>G
|
|
|
|
ENST00000640681.1:n.1122T>G
|
|
|
|
ENST00000652046.1:c.1001T>G
MANE Select
|
ENSP00000498466.1:p.Leu334Trp
|
|
|
ENST00000352159.8:c.*318T>G
|
ENSP00000345601.4:n.*318T>G
|
|
|
ENST00000355279.2:c.976T>G
|
ENSP00000347426.2:n.976T>G
|
|
|
ENST00000355740.6:c.1001T>G
|
ENSP00000347979.2:p.Leu334Trp
|
|
|
ENST00000357339.6:c.938T>G
|
ENSP00000349896.2:p.Leu313Trp
|
|
|
ENST00000479522.5:c.*430T>G
|
ENSP00000424113.1:n.*430T>G
|
|
|
ENST00000484444.5:c.*442T>G
|
ENSP00000420975.1:n.*442T>G
|
|
|
ENST00000488877.5:c.*442T>G
|
ENSP00000425159.1:n.*442T>G
|
|
|
ENST00000492756.5:c.829T>G
|
ENSP00000422453.1:n.829T>G
|
|
|
ENST00000494410.5:c.*359T>G
|
ENSP00000423755.1:n.*359T>G
|
|
|
ENST00000612663.4:c.*348T>G
|
ENSP00000477997.2:n.*348T>G
|
|
|
NM_000043.4:c.1001T>G , LRG_134t1:c.1001T>G
|
NP_000034.1:p.Leu334Trp
|
|
|
NM_152871.2:c.938T>G
|
NP_690610.1:p.Leu313Trp
|
|
|
NM_152872.2:c.*313T>G
|
NP_690611.1:n.*313T>G
|
|
|
NR_028033.2:n.1175T>G
|
|
|
|
NR_028034.2:n.1037T>G
|
|
|
|
NR_028035.2:n.1100T>G
|
|
|
|
NR_028036.2:n.1238T>G
|
|
|
|
XM_006717819.2:c.1082T>G
|
XP_006717882.1:p.Leu361Trp
|
|
|
XM_011539764.1:c.1163T>G
|
XP_011538066.1:p.Leu388Trp
|
|
|
XM_011539765.1:c.1100T>G
|
XP_011538067.1:p.Leu367Trp
|
|
|
XM_011539766.1:c.1082T>G
|
XP_011538068.1:p.Leu361Trp
|
|
|
XM_011539767.1:c.1046T>G
|
XP_011538069.1:p.Leu349Trp
|
|
|
XR_945733.1:n.1006T>G
|
|
|
|
NM_000043.5:c.1001T>G
|
NP_000034.1:p.Leu334Trp
|
|
|
NM_001320619.1:c.*324T>G
|
NP_001307548.1:n.*324T>G
|
|
|
NM_152871.3:c.938T>G
|
NP_690610.1:p.Leu313Trp
|
|
|
NM_152872.3:c.*313T>G
|
NP_690611.1:n.*313T>G
|
|
|
NR_028033.3:n.1147T>G
|
|
|
|
NR_028034.3:n.1009T>G
|
|
|
|
NR_028035.3:n.1072T>G
|
|
|
|
NR_028036.3:n.1210T>G
|
|
|
|
NR_135313.1:n.1127T>G
|
|
|
|
NR_135314.1:n.1310T>G
|
|
|
|
NR_135315.1:n.1063T>G
|
|
|
|
XM_006717819.3:c.1082T>G
|
XP_006717882.1:p.Leu361Trp
|
|
|
XM_011539764.2:c.1163T>G
|
XP_011538066.1:p.Leu388Trp
|
|
|
XM_011539765.2:c.1100T>G
|
XP_011538067.1:p.Leu367Trp
|
|
|
XM_011539766.2:c.1082T>G
|
XP_011538068.1:p.Leu361Trp
|
|
|
XM_011539767.3:c.1046T>G
|
XP_011538069.1:p.Leu349Trp
|
|
|
XR_945732.3:n.1069T>G
|
|
|
|
XR_945733.2:n.1006T>G
|
|
|
|
NM_000043.6:c.1001T>G
MANE Select
|
NP_000034.1:p.Leu334Trp
|
|
|
NM_001320619.2:c.*324T>G
|
NP_001307548.1:n.*324T>G
|
|
|
NM_152871.4:c.938T>G
|
NP_690610.1:p.Leu313Trp
|
|
|
NM_152872.4:c.*313T>G
|
NP_690611.1:n.*313T>G
|
|
|
NR_028033.4:n.908T>G
|
|
|
|
NR_028034.4:n.770T>G
|
|
|
|
NR_028035.4:n.833T>G
|
|
|
|
NR_028036.4:n.971T>G
|
|
|
|
NR_135313.2:n.888T>G
|
|
|
|
NR_135314.2:n.1167T>G
|
|
|
|
NR_135315.2:n.920T>G
|
|
|
