|
ENST00000699814.2:c.*524_*525dup
|
ENSP00000514615.2:n.*524_*525dup
|
|
|
ENST00000699840.2:c.1125_1126dup
|
ENSP00000514638.2:p.Leu376HisfsTer9
|
|
|
ENST00000699930.2:c.1020_1021dup
|
ENSP00000514695.2:p.Leu341HisfsTer9
|
|
|
ENST00000406569.8:c.1128_1129dup
|
ENSP00000514464.1:p.Leu377HisfsTer9
|
|
|
ENST00000644110.2:c.*722_*723dup
|
ENSP00000496392.2:n.*722_*723dup
|
|
|
ENST00000699752.1:c.988+2157_988+2158dup
|
ENSP00000514561.1:n.988+2157_988+2158dup
|
|
|
ENST00000699753.1:c.*549_*550dup
|
ENSP00000514562.1:n.*549_*550dup
|
|
|
ENST00000699754.1:c.930_931dup
|
ENSP00000514563.1:p.Leu311HisfsTer9
|
|
|
ENST00000699755.1:c.*527_*528dup
|
ENSP00000514564.1:n.*527_*528dup
|
|
|
ENST00000699756.1:c.*715_*716dup
|
ENSP00000514565.1:n.*715_*716dup
|
|
|
ENST00000699757.1:c.*385_*386dup
|
ENSP00000514566.1:n.*385_*386dup
|
|
|
ENST00000699758.1:c.*385_*386dup
|
ENSP00000514567.1:n.*385_*386dup
|
|
|
ENST00000699759.1:n.1982_1983dup
|
|
|
|
ENST00000699760.1:c.810_811dup
|
ENSP00000514568.1:p.Leu271HisfsTer9
|
|
|
ENST00000699761.1:c.723_724dup
|
ENSP00000514569.1:p.Leu242HisfsTer9
|
|
|
ENST00000699762.1:c.555_556dup
|
ENSP00000514570.1:p.Leu186HisfsTer9
|
|
|
ENST00000699763.1:c.*218_*219dup
|
ENSP00000514571.1:n.*218_*219dup
|
|
|
ENST00000699764.1:c.1128_1129dup
|
ENSP00000514572.1:p.Leu377HisfsTer9
|
|
|
ENST00000699765.1:c.*224_*225dup
|
ENSP00000514573.1:n.*224_*225dup
|
|
|
ENST00000699766.1:c.1128_1129dup
|
ENSP00000514574.1:p.Leu377HisfsTer9
|
|
|
ENST00000699767.1:c.1128_1129dup
|
ENSP00000514575.1:p.Leu377HisfsTer9
|
|
|
ENST00000699768.1:c.1128_1129dup
|
ENSP00000514576.1:p.Leu377HisfsTer9
|
|
|
ENST00000699811.1:c.723_724dup
|
ENSP00000514614.1:p.Leu242HisfsTer9
|
|
|
ENST00000699813.1:n.1241_1242dup
|
|
|
|
ENST00000699814.1:c.751_752dup
|
|
|
|
ENST00000699815.1:c.*620_*621dup
|
ENSP00000514616.1:n.*620_*621dup
|
|
|
ENST00000699816.1:c.723_724dup
|
ENSP00000514617.1:p.Leu242HisfsTer10
|
|
|
ENST00000699817.1:c.*722_*723dup
|
ENSP00000514618.1:n.*722_*723dup
|
|
|
ENST00000699818.1:c.723_724dup
|
ENSP00000514619.1:p.Leu242HisfsTer9
|
|
|
ENST00000699819.1:c.*285_*286dup
|
ENSP00000514620.1:n.*285_*286dup
|
|
|
ENST00000699820.1:c.1128_1129dup
|
ENSP00000514621.1:p.Leu377HisfsTer7
|
|
|
ENST00000699821.1:c.723_724dup
|
ENSP00000514622.1:p.Leu242HisfsTer9
|
|
|
ENST00000699822.1:c.*580_*581dup
|
ENSP00000514623.1:n.*580_*581dup
|
|
|
ENST00000699823.1:c.723_724dup
|
ENSP00000514624.1:p.Leu242HisfsTer9
|
|
|
ENST00000699824.1:c.*631_*632dup
|
ENSP00000514625.1:n.*631_*632dup
|
|
|
ENST00000699825.1:c.583+2157_583+2158dup
|
ENSP00000514626.1:n.583+2157_583+2158dup
|
|
|
ENST00000699826.1:c.*527_*528dup
|
ENSP00000514627.1:n.*527_*528dup
|
|
|
ENST00000699827.1:c.960_961dup
|
ENSP00000514628.1:p.Leu321HisfsTer9
|
|
|
ENST00000699828.1:c.*218_*219dup
|
ENSP00000514629.1:n.*218_*219dup
|
|
|
ENST00000699829.1:c.*629_*630dup
|
ENSP00000514630.1:n.*629_*630dup
|
|
|
ENST00000699830.1:c.*527_*528dup
|
ENSP00000514631.1:n.*527_*528dup
|
|
|
ENST00000699833.1:n.2900_2901dup
|
|
|
|
ENST00000699837.1:c.723_724dup
|
ENSP00000514635.1:p.Leu242HisfsTer9
|
|
|
ENST00000699838.1:c.*1028_*1029dup
|
ENSP00000514636.1:n.*1028_*1029dup
|
|
|
ENST00000699839.1:c.1314_1315dup
|
ENSP00000514637.1:p.Leu439HisfsTer9
|
|
|
ENST00000699840.1:c.1125_1126dup
|
ENSP00000514638.1:p.Leu376HisfsTer9
|
|
|
ENST00000699916.1:c.*385_*386dup
|
ENSP00000514684.1:n.*385_*386dup
|
|
|
ENST00000699917.1:c.*577_*578dup
|
ENSP00000514685.1:n.*577_*578dup
|
|
|
ENST00000699918.1:c.*629_*630dup
|
ENSP00000514686.1:n.*629_*630dup
|
|
|
ENST00000699919.1:c.*715_*716dup
|
ENSP00000514687.1:n.*715_*716dup
|
|
|
ENST00000699920.1:c.*764_*765dup
|
ENSP00000514688.1:n.*764_*765dup
|
|
|
ENST00000699928.1:c.988+2157_988+2158dup
|
ENSP00000514693.1:n.988+2157_988+2158dup
|
|
|
ENST00000699929.1:c.*429_*430dup
|
ENSP00000514694.1:n.*429_*430dup
|
|
|
ENST00000699930.1:c.1020_1021dup
|
ENSP00000514695.1:p.Leu341HisfsTer9
|
|
|
ENST00000699931.1:n.2556_2557dup
|
|
|
|
ENST00000699932.1:c.*346_*347dup
|
ENSP00000514696.1:n.*346_*347dup
|
|
|
ENST00000699933.1:n.1108_1109dup
|
|
|
|
ENST00000699951.1:c.*224_*225dup
|
ENSP00000514706.1:n.*224_*225dup
|
|
|
ENST00000699952.1:c.803+7510_803+7511dup
|
ENSP00000514707.1:n.803+7510_803+7511dup
|
|
|
ENST00000699953.1:c.*235_*236dup
|
ENSP00000514708.1:n.*235_*236dup
|
|
|
ENST00000699954.1:c.*429_*430dup
|
ENSP00000514709.1:n.*429_*430dup
|
|
|
ENST00000265849.12:c.1128_1129dup
MANE Select
|
ENSP00000265849.7:p.Leu377HisfsTer9
|
|
|
ENST00000642292.1:c.723_724dup
|
ENSP00000495524.1:p.Leu242HisfsTer9
|
|
|
ENST00000642456.1:c.723_724dup
|
ENSP00000493814.1:p.Leu242HisfsTer9
|
|
|
ENST00000643595.1:c.*527_*528dup
|
ENSP00000494497.1:n.*527_*528dup
|
|
|
ENST00000644110.1:c.810_811dup
|
ENSP00000496392.1:p.Leu271HisfsTer9
|
|
|
ENST00000265849.11:c.1128_1129dup
|
ENSP00000265849.7:p.Leu377HisfsTer9
|
|
|
ENST00000382321.5:c.804-6825_804-6824dup
|
ENSP00000371758.4:n.804-6825_804-6824dup
|
|
|
ENST00000406569.7:n.1128_1129dup
|
|
|
|
ENST00000441476.6:c.810_811dup
|
ENSP00000392843.2:p.Leu271HisfsTer9
|
|
|
ENST00000469652.1:n.63-6911_63-6910dup
|
|
|
|
NM_000535.5:c.1128_1129dup , LRG_161t1:c.1128_1129dup
|
NP_000526.1:p.Leu377HisfsTer9
|
|
|
NR_003085.2:n.1210_1211dup
|
|
|
|
XM_006715742.2:c.1122_1123dup
|
XP_006715805.1:p.Leu375HisfsTer9
|
|
|
XM_006715744.2:c.195_196dup
|
XP_006715807.1:p.Leu66HisfsTer9
|
|
|
XM_011515427.1:c.1173_1174dup
|
XP_011513729.1:p.Leu392HisfsTer9
|
|
|
XM_011515428.1:c.1033+2157_1033+2158dup
|
XP_011513730.1:n.1033+2157_1033+2158dup
|
|
|
XM_011515429.1:c.810_811dup
|
XP_011513731.1:p.Leu271HisfsTer9
|
|
|
XM_011515430.1:c.810_811dup
|
XP_011513732.1:p.Leu271HisfsTer9
|
|
|
NM_000535.6:c.1128_1129dup
|
NP_000526.2:p.Leu377HisfsTer9
|
|
|
NM_001322003.1:c.723_724dup
|
NP_001308932.1:p.Leu242HisfsTer9
|
|
|
NM_001322004.1:c.723_724dup
|
NP_001308933.1:p.Leu242HisfsTer9
|
|
|
NM_001322005.1:c.723_724dup
|
NP_001308934.1:p.Leu242HisfsTer9
|
|
|
NM_001322006.1:c.988+2157_988+2158dup
|
NP_001308935.1:n.988+2157_988+2158dup
|
|
|
NM_001322007.1:c.810_811dup
|
NP_001308936.1:p.Leu271HisfsTer9
|
|
|
NM_001322008.1:c.810_811dup
|
NP_001308937.1:p.Leu271HisfsTer9
|
|
|
NM_001322009.1:c.723_724dup
|
NP_001308938.1:p.Leu242HisfsTer9
|
|
|
NM_001322010.1:c.583+2157_583+2158dup
|
NP_001308939.1:n.583+2157_583+2158dup
|
|
|
NM_001322011.1:c.195_196dup
|
NP_001308940.1:p.Leu66HisfsTer9
|
|
|
NM_001322012.1:c.195_196dup
|
NP_001308941.1:p.Leu66HisfsTer9
|
|
|
NM_001322013.1:c.555_556dup
|
NP_001308942.1:p.Leu186HisfsTer9
|
|
|
NM_001322014.1:c.1128_1129dup
|
NP_001308943.1:p.Leu377HisfsTer9
|
|
|
NM_001322015.1:c.819_820dup
|
NP_001308944.1:p.Leu274HisfsTer9
|
|
|
NR_136154.1:n.1215_1216dup
|
|
|
|
XM_006715744.4:c.195_196dup
|
XP_006715807.1:p.Leu66HisfsTer9
|
|
|
XM_017012342.2:c.195_196dup
|
XP_016867831.1:p.Leu66HisfsTer9
|
|
|
XM_024446800.1:c.583+2157_583+2158dup
|
XP_024302568.1:n.583+2157_583+2158dup
|
|
|
NM_000535.7:c.1128_1129dup
MANE Select
|
NP_000526.2:p.Leu377HisfsTer9
|
|
|
NM_001322003.2:c.723_724dup
|
NP_001308932.1:p.Leu242HisfsTer9
|
|
|
NM_001322004.2:c.723_724dup
|
NP_001308933.1:p.Leu242HisfsTer9
|
|
|
NM_001322005.2:c.723_724dup
|
NP_001308934.1:p.Leu242HisfsTer9
|
|
|
NM_001322006.2:c.988+2157_988+2158dup
|
NP_001308935.1:n.988+2157_988+2158dup
|
|
|
NM_001322008.2:c.810_811dup
|
NP_001308937.1:p.Leu271HisfsTer9
|
|
|
NM_001322009.2:c.723_724dup
|
NP_001308938.1:p.Leu242HisfsTer9
|
|
|
NM_001322010.2:c.583+2157_583+2158dup
|
NP_001308939.1:n.583+2157_583+2158dup
|
|
|
NM_001322011.2:c.195_196dup
|
NP_001308940.1:p.Leu66HisfsTer9
|
|
|
NM_001322012.2:c.195_196dup
|
NP_001308941.1:p.Leu66HisfsTer9
|
|
|
NM_001322013.2:c.555_556dup
|
NP_001308942.1:p.Leu186HisfsTer9
|
|
|
NM_001322014.2:c.1128_1129dup
|
NP_001308943.1:p.Leu377HisfsTer9
|
|
|
NM_001322015.2:c.819_820dup
|
NP_001308944.1:p.Leu274HisfsTer9
|
|
|
NM_001322007.2:c.810_811dup
|
NP_001308936.1:p.Leu271HisfsTer9
|
|
