|
ENST00000699814.2:c.*1304del
|
ENSP00000514615.2:n.*1304del
|
|
|
ENST00000699840.2:c.1905del
|
ENSP00000514638.2:p.Gln636SerfsTer28
|
|
|
ENST00000699930.2:c.1800del
|
ENSP00000514695.2:p.Gln601SerfsTer28
|
|
|
ENST00000406569.8:c.1678+230del
|
ENSP00000514464.1:n.1678+230del
|
|
|
ENST00000644110.2:c.*1502del
|
ENSP00000496392.2:n.*1502del
|
|
|
ENST00000699752.1:c.1752del
|
ENSP00000514561.1:p.Gln585SerfsTer28
|
|
|
ENST00000699753.1:c.*1329del
|
ENSP00000514562.1:n.*1329del
|
|
|
ENST00000699754.1:c.1710del
|
ENSP00000514563.1:p.Gln571SerfsTer28
|
|
|
ENST00000699755.1:c.*1307del
|
ENSP00000514564.1:n.*1307del
|
|
|
ENST00000699756.1:c.*1495del
|
ENSP00000514565.1:n.*1495del
|
|
|
ENST00000699757.1:c.*1165del
|
ENSP00000514566.1:n.*1165del
|
|
|
ENST00000699758.1:c.*1165del
|
ENSP00000514567.1:n.*1165del
|
|
|
ENST00000699759.1:n.2762del
|
|
|
|
ENST00000699760.1:c.1590del
|
ENSP00000514568.1:p.Gln531SerfsTer28
|
|
|
ENST00000699761.1:c.1503del
|
ENSP00000514569.1:p.Gln502SerfsTer28
|
|
|
ENST00000699762.1:c.1335del
|
ENSP00000514570.1:p.Gln446SerfsTer28
|
|
|
ENST00000699763.1:c.*998del
|
ENSP00000514571.1:n.*998del
|
|
|
ENST00000699764.1:c.*226del
|
ENSP00000514572.1:n.*226del
|
|
|
ENST00000699765.1:c.*1004del
|
ENSP00000514573.1:n.*1004del
|
|
|
ENST00000699766.1:c.1908del
|
ENSP00000514574.1:p.Gln637SerfsTer28
|
|
|
ENST00000699767.1:c.1908del
|
ENSP00000514575.1:p.Gln637SerfsTer28
|
|
|
ENST00000699768.1:c.1908del
|
ENSP00000514576.1:p.Gln637SerfsTer28
|
|
|
ENST00000699811.1:c.1503del
|
ENSP00000514614.1:p.Gln502SerfsTer28
|
|
|
ENST00000699813.1:n.2021del
|
|
|
|
ENST00000699814.1:c.1531del
|
|
|
|
ENST00000699815.1:c.*1439del
|
ENSP00000514616.1:n.*1439del
|
|
|
ENST00000699816.1:c.*798del
|
ENSP00000514617.1:n.*798del
|
|
|
ENST00000699817.1:c.*1502del
|
ENSP00000514618.1:n.*1502del
|
|
|
ENST00000699818.1:c.1503del
|
ENSP00000514619.1:p.Gln502SerfsTer28
|
|
|
ENST00000699819.1:c.*1065del
|
ENSP00000514620.1:n.*1065del
|
|
|
ENST00000699820.1:c.1144+2943del
|
ENSP00000514621.1:n.1144+2943del
|
|
|
ENST00000699821.1:c.1503del
|
ENSP00000514622.1:p.Gln502SerfsTer28
|
|
|
ENST00000699822.1:c.*1360del
|
ENSP00000514623.1:n.*1360del
|
|
|
ENST00000699823.1:c.1503del
|
ENSP00000514624.1:p.Gln502SerfsTer28
|
|
|
ENST00000699824.1:c.*1411del
|
ENSP00000514625.1:n.*1411del
|
|
|
ENST00000699825.1:c.1347del
|
ENSP00000514626.1:p.Gln450SerfsTer28
|
|
|
ENST00000699826.1:c.*1307del
|
ENSP00000514627.1:n.*1307del
|
|
|
ENST00000699827.1:c.1740del
|
ENSP00000514628.1:p.Gln581SerfsTer28
|
|
|
ENST00000699828.1:c.*998del
|
ENSP00000514629.1:n.*998del
|
|
|
ENST00000699833.1:n.3680del
|
|
|
|
ENST00000699837.1:c.1503del
|
ENSP00000514635.1:p.Gln502SerfsTer28
|
|
|
ENST00000699838.1:c.*1808del
|
ENSP00000514636.1:n.*1808del
|
|
|
ENST00000699839.1:c.2094del
|
ENSP00000514637.1:p.Gln699SerfsTer28
|
|
|
ENST00000699916.1:c.*1165del
|
ENSP00000514684.1:n.*1165del
|
|
|
ENST00000699917.1:c.*1357del
|
ENSP00000514685.1:n.*1357del
|
|
|
ENST00000699918.1:c.*1409del
|
ENSP00000514686.1:n.*1409del
|
|
|
ENST00000699919.1:c.*1495del
|
ENSP00000514687.1:n.*1495del
|
|
|
ENST00000699920.1:c.*1544del
|
ENSP00000514688.1:n.*1544del
|
|
|
ENST00000699928.1:c.989-3866del
|
ENSP00000514693.1:n.989-3866del
|
|
|
ENST00000699951.1:c.*1004del
|
ENSP00000514706.1:n.*1004del
|
|
|
ENST00000699952.1:c.803+10469del
|
ENSP00000514707.1:n.803+10469del
|
|
|
ENST00000265849.12:c.1908del
MANE Select
|
ENSP00000265849.7:p.Gln637SerfsTer28
|
|
|
ENST00000642292.1:c.1503del
|
ENSP00000495524.1:p.Gln502SerfsTer28
|
|
|
ENST00000642456.1:c.1503del
|
ENSP00000493814.1:p.Gln502SerfsTer28
|
|
|
ENST00000643595.1:c.*1307del
|
ENSP00000494497.1:n.*1307del
|
|
|
ENST00000644110.1:c.1590del
|
ENSP00000496392.1:p.Gln531SerfsTer28
|
|
|
ENST00000265849.11:c.1908del
|
ENSP00000265849.7:p.Gln637SerfsTer28
|
|
|
ENST00000382321.5:c.804-3866del
|
ENSP00000371758.4:n.804-3866del
|
|
|
ENST00000406569.7:n.1678+230del
|
|
|
|
ENST00000441476.6:c.1590del
|
ENSP00000392843.2:p.Gln531SerfsTer28
|
|
|
ENST00000469652.1:n.63-3952del
|
|
|
|
NM_000535.5:c.1908del , LRG_161t1:c.1908del
|
NP_000526.1:p.Gln637SerfsTer28
|
|
|
NR_003085.2:n.1990del
|
|
|
|
XM_006715742.2:c.1902del
|
XP_006715805.1:p.Gln635SerfsTer28
|
|
|
XM_006715744.2:c.975del
|
XP_006715807.1:p.Gln326SerfsTer28
|
|
|
XM_011515427.1:c.1953del
|
XP_011513729.1:p.Gln652SerfsTer28
|
|
|
XM_011515428.1:c.1797del
|
XP_011513730.1:p.Gln600SerfsTer28
|
|
|
XM_011515429.1:c.1590del
|
XP_011513731.1:p.Gln531SerfsTer28
|
|
|
XM_011515430.1:c.1590del
|
XP_011513732.1:p.Gln531SerfsTer28
|
|
|
NM_000535.6:c.1908del
|
NP_000526.2:p.Gln637SerfsTer28
|
|
|
NM_001322003.1:c.1503del
|
NP_001308932.1:p.Gln502SerfsTer28
|
|
|
NM_001322004.1:c.1503del
|
NP_001308933.1:p.Gln502SerfsTer28
|
|
|
NM_001322005.1:c.1503del
|
NP_001308934.1:p.Gln502SerfsTer28
|
|
|
NM_001322006.1:c.1752del
|
NP_001308935.1:p.Gln585SerfsTer28
|
|
|
NM_001322007.1:c.1590del
|
NP_001308936.1:p.Gln531SerfsTer28
|
|
|
NM_001322008.1:c.1590del
|
NP_001308937.1:p.Gln531SerfsTer28
|
|
|
NM_001322009.1:c.1503del
|
NP_001308938.1:p.Gln502SerfsTer28
|
|
|
NM_001322010.1:c.1347del
|
NP_001308939.1:p.Gln450SerfsTer28
|
|
|
NM_001322011.1:c.975del
|
NP_001308940.1:p.Gln326SerfsTer28
|
|
|
NM_001322012.1:c.975del
|
NP_001308941.1:p.Gln326SerfsTer28
|
|
|
NM_001322013.1:c.1335del
|
NP_001308942.1:p.Gln446SerfsTer28
|
|
|
NM_001322014.1:c.1908del
|
NP_001308943.1:p.Gln637SerfsTer28
|
|
|
NM_001322015.1:c.1599del
|
NP_001308944.1:p.Gln534SerfsTer28
|
|
|
NR_136154.1:n.1995del
|
|
|
|
XM_006715744.4:c.975del
|
XP_006715807.1:p.Gln326SerfsTer28
|
|
|
XM_017012342.2:c.975del
|
XP_016867831.1:p.Gln326SerfsTer28
|
|
|
XM_024446800.1:c.1347del
|
XP_024302568.1:p.Gln450SerfsTer28
|
|
|
NM_000535.7:c.1908del
MANE Select
|
NP_000526.2:p.Gln637SerfsTer28
|
|
|
NM_001322003.2:c.1503del
|
NP_001308932.1:p.Gln502SerfsTer28
|
|
|
NM_001322004.2:c.1503del
|
NP_001308933.1:p.Gln502SerfsTer28
|
|
|
NM_001322005.2:c.1503del
|
NP_001308934.1:p.Gln502SerfsTer28
|
|
|
NM_001322006.2:c.1752del
|
NP_001308935.1:p.Gln585SerfsTer28
|
|
|
NM_001322008.2:c.1590del
|
NP_001308937.1:p.Gln531SerfsTer28
|
|
|
NM_001322009.2:c.1503del
|
NP_001308938.1:p.Gln502SerfsTer28
|
|
|
NM_001322010.2:c.1347del
|
NP_001308939.1:p.Gln450SerfsTer28
|
|
|
NM_001322011.2:c.975del
|
NP_001308940.1:p.Gln326SerfsTer28
|
|
|
NM_001322012.2:c.975del
|
NP_001308941.1:p.Gln326SerfsTer28
|
|
|
NM_001322013.2:c.1335del
|
NP_001308942.1:p.Gln446SerfsTer28
|
|
|
NM_001322014.2:c.1908del
|
NP_001308943.1:p.Gln637SerfsTer28
|
|
|
NM_001322015.2:c.1599del
|
NP_001308944.1:p.Gln534SerfsTer28
|
|
|
NM_001322007.2:c.1590del
|
NP_001308936.1:p.Gln531SerfsTer28
|
|
