|
ENST00000262915.8:c.1015C>T
|
ENSP00000262915.3:p.Arg339Ter
|
|
|
ENST00000332628.11:c.594C>T
|
|
|
|
ENST00000347631.8:c.808C>T
MANE Select
|
ENSP00000317192.6:p.Arg270Ter
|
|
|
ENST00000351035.8:c.970C>T
|
ENSP00000316999.6:p.Arg324Ter
|
|
|
ENST00000353126.8:c.745-9665C>T
|
ENSP00000330463.3:n.745-9665C>T
|
|
|
ENST00000361392.9:c.853C>T
|
ENSP00000355341.5:p.Arg285Ter
|
|
|
ENST00000361400.9:c.760C>T
|
ENSP00000354748.4:p.Arg254Ter
|
|
|
ENST00000361746.9:c.901C>T
|
ENSP00000354657.5:p.Arg301Ter
|
|
|
ENST00000361812.9:c.443-9665C>T
|
ENSP00000355201.4:n.443-9665C>T
|
|
|
ENST00000372366.6:c.581-9665C>T
|
ENSP00000361441.1:n.581-9665C>T
|
|
|
ENST00000372368.7:c.970C>T
|
ENSP00000361443.3:p.Arg324Ter
|
|
|
ENST00000372372.7:c.922C>T
|
ENSP00000361447.2:p.Arg308Ter
|
|
|
ENST00000372374.7:c.715C>T
|
ENSP00000361449.2:p.Arg239Ter
|
|
|
ENST00000461375.2:n.770C>T
|
|
|
|
ENST00000469715.6:c.656C>T
|
ENSP00000431700.2:n.656C>T
|
|
|
ENST00000489897.6:c.*366-9665C>T
|
ENSP00000437206.1:n.*366-9665C>T
|
|
|
ENST00000490541.6:c.717C>T
|
ENSP00000435018.2:n.717C>T
|
|
|
ENST00000495482.2:n.1355C>T
|
|
|
|
ENST00000531993.6:c.604-9665C>T
|
ENSP00000432682.2:n.604-9665C>T
|
|
|
ENST00000533933.6:c.751C>T
|
ENSP00000432965.2:p.Arg251Ter
|
|
|
ENST00000533997.6:c.*570-9665C>T
|
ENSP00000432071.1:n.*570-9665C>T
|
|
|
ENST00000642194.1:c.*5C>T
|
ENSP00000493708.1:n.*5C>T
|
|
|
ENST00000642331.1:c.853C>T
|
ENSP00000493823.1:p.Arg285Ter
|
|
|
ENST00000642504.1:c.*633C>T
|
ENSP00000494857.1:n.*633C>T
|
|
|
ENST00000642780.1:c.632C>T
|
|
|
|
ENST00000642934.1:c.697-9665C>T
|
ENSP00000494146.1:n.697-9665C>T
|
|
|
ENST00000642949.1:c.*270C>T
|
ENSP00000495709.1:n.*270C>T
|
|
|
ENST00000643252.1:c.808C>T
|
ENSP00000495333.1:p.Arg270Ter
|
|
|
ENST00000643283.1:c.*270C>T
|
ENSP00000494746.1:n.*270C>T
|
|
|
ENST00000643597.1:c.*189-9665C>T
|
ENSP00000495977.1:n.*189-9665C>T
|
|
|
ENST00000643813.1:c.853C>T
|
ENSP00000496646.1:n.853C>T
|
|
|
ENST00000644016.1:n.778C>T
|
|
|
|
ENST00000644195.1:c.808C>T
|
ENSP00000494201.1:p.Arg270Ter
|
|
|
ENST00000644287.1:c.702C>T
|
|
|
|
ENST00000644378.1:n.589-9665C>T
|
|
|
|
ENST00000644645.1:c.531-9665C>T
|
ENSP00000495647.1:n.531-9665C>T
|
|
|
ENST00000644922.1:c.712-9665C>T
|
ENSP00000496289.1:n.712-9665C>T
|
|
|
ENST00000645012.1:n.456C>T
|
|
|
|
ENST00000645034.1:c.808C>T
|
ENSP00000496350.1:p.Arg270Ter
|
|
|
ENST00000645057.1:c.*2130C>T
|
ENSP00000494063.1:n.*2130C>T
|
|
|
ENST00000645117.1:c.520-9665C>T
|
|
|
|
ENST00000645142.1:c.*270C>T
|
ENSP00000496550.1:n.*270C>T
|
|
|
ENST00000645165.1:c.*616C>T
|
ENSP00000493660.1:n.*616C>T
|
|
|
ENST00000645394.1:c.*270C>T
|
ENSP00000495299.1:n.*270C>T
|
|
|
ENST00000645640.1:c.*616C>T
|
ENSP00000494852.1:n.*616C>T
|
|
|
ENST00000645644.1:n.770C>T
|
|
|
|
ENST00000645670.1:n.1366C>T
|
|
|
|
ENST00000645705.1:c.*272C>T
|
ENSP00000496492.1:n.*272C>T
|
|
|
ENST00000646027.1:c.783C>T
|
ENSP00000494396.1:p.Phe261=
|
|
|
ENST00000646032.1:c.548C>T
|
|
|
|
ENST00000646069.1:c.715C>T
|
ENSP00000496585.1:p.Arg239Ter
|
|
|
ENST00000646686.1:c.760C>T
|
ENSP00000495683.1:p.Arg254Ter
|
|
|
ENST00000646971.1:c.808C>T
|
ENSP00000495887.1:p.Arg270Ter
|
|
|
ENST00000647128.1:c.*111-9665C>T
|
ENSP00000494374.1:n.*111-9665C>T
|
|
|
ENST00000647134.1:c.*633C>T
|
ENSP00000495797.1:n.*633C>T
|
|
|
ENST00000647148.1:c.808C>T
|
ENSP00000495939.1:p.Arg270Ter
|
|
|
ENST00000647237.1:c.907-9665C>T
|
ENSP00000495624.1:n.907-9665C>T
|
|
|
ENST00000647482.1:c.*402C>T
|
ENSP00000495567.1:n.*402C>T
|
|
|
ENST00000647503.1:c.440-9665C>T
|
|
|
|
ENST00000262915.7:c.1015C>T
|
ENSP00000262915.3:p.Arg339Ter
|
|
|
ENST00000330208.6:c.255-9665C>T
|
ENSP00000333494.3:n.255-9665C>T
|
|
|
ENST00000332628.10:c.715C>T
|
ENSP00000329755.6:p.Arg239Ter
|
|
|
ENST00000335430.10:c.*23-9665C>T
|
ENSP00000335633.7:n.*23-9665C>T
|
|
|
ENST00000347631.6:c.853C>T
|
ENSP00000317192.4:p.Arg285Ter
|
|
|
ENST00000351035.7:c.922C>T
|
ENSP00000316999.5:p.Arg308Ter
|
|
|
ENST00000353126.7:c.745-9665C>T
|
ENSP00000330463.3:n.745-9665C>T
|
|
|
ENST00000361392.8:c.808C>T
|
ENSP00000355341.4:p.Arg270Ter
|
|
|
ENST00000361400.8:c.760C>T
|
ENSP00000354748.4:p.Arg254Ter
|
|
|
ENST00000361746.8:c.1015C>T
|
ENSP00000354657.4:p.Arg339Ter
|
|
|
ENST00000361812.8:c.443-9665C>T
|
ENSP00000355201.4:n.443-9665C>T
|
|
|
ENST00000372362.6:c.398-9665C>T
|
ENSP00000361437.2:n.398-9665C>T
|
|
|
ENST00000372365.5:c.584-9665C>T
|
ENSP00000361440.1:n.584-9665C>T
|
|
|
ENST00000372366.5:c.581-9665C>T
|
ENSP00000361441.1:n.581-9665C>T
|
|
|
ENST00000372367.5:c.555-9665C>T
|
ENSP00000361442.1:n.555-9665C>T
|
|
|
ENST00000372368.6:c.970C>T
|
ENSP00000361443.2:p.Arg324Ter
|
|
|
ENST00000372369.5:c.745-27C>T
|
ENSP00000361444.1:n.745-27C>T
|
|
|
ENST00000372372.6:c.922C>T
|
ENSP00000361447.2:p.Arg308Ter
|
|
|
ENST00000372374.6:c.715C>T
|
ENSP00000361449.2:p.Arg239Ter
|
|
|
ENST00000461375.1:n.769C>T
|
|
|
|
ENST00000469715.5:c.840C>T
|
ENSP00000431700.1:n.840C>T
|
|
|
ENST00000489897.5:c.*366-9665C>T
|
ENSP00000437206.1:n.*366-9665C>T
|
|
|
ENST00000490502.1:c.204C>T
|
|
|
|
ENST00000490541.5:c.656C>T
|
ENSP00000435018.1:n.656C>T
|
|
|
ENST00000495482.1:n.345C>T
|
|
|
|
ENST00000528371.5:c.510-9665C>T
|
ENSP00000434876.1:n.510-9665C>T
|
|
|
ENST00000530581.5:c.573C>T
|
ENSP00000437293.1:p.Phe191=
|
|
|
ENST00000531451.5:c.350-9665C>T
|
ENSP00000435603.1:n.350-9665C>T
|
|
|
ENST00000531816.1:c.255-9665C>T
|
ENSP00000434378.1:n.255-9665C>T
|
|
|
ENST00000531993.5:c.697-9665C>T
|
ENSP00000432682.1:n.697-9665C>T
|
|
|
ENST00000533212.5:c.461C>T
|
ENSP00000435621.1:n.461C>T
|
|
|
ENST00000533933.5:c.745-9665C>T
|
ENSP00000432965.1:n.745-9665C>T
|
|
|
ENST00000533997.5:c.918-9665C>T
|
ENSP00000432071.1:n.918-9665C>T
|
|
|
ENST00000545417.5:c.443-9665C>T
|
ENSP00000439634.1:n.443-9665C>T
|
|
|
NM_001270459.1:c.745-27C>T
|
NP_001257388.1:n.745-27C>T
|
|
|
NM_001270460.1:c.715C>T
|
NP_001257389.1:p.Arg239Ter
|
|
|
NM_001270461.1:c.697-9665C>T
|
NP_001257390.1:n.697-9665C>T
|
|
|
NM_001270462.1:c.604-9665C>T
|
NP_001257391.1:n.604-9665C>T
|
|
|
NM_001270463.1:c.555-9665C>T
|
NP_001257392.1:n.555-9665C>T
|
|
|
NM_001270464.1:c.510-9665C>T
|
NP_001257393.1:n.510-9665C>T
|
|
|
NM_001270465.1:c.*23-9665C>T
|
NP_001257394.1:n.*23-9665C>T
|
|
|
NM_001270466.1:c.255-9665C>T
|
NP_001257395.1:n.255-9665C>T
|
|
|
NM_006279.3:c.808C>T
|
NP_006270.1:p.Arg270Ter
|
|
|
NM_174963.3:c.1015C>T
|
NP_777623.2:p.Arg339Ter
|
|
|
NM_174964.2:c.853C>T
|
NP_777624.1:p.Arg285Ter
|
|
|
NM_174965.2:c.443-9665C>T
|
NP_777625.1:n.443-9665C>T
|
|
|
NM_174966.2:c.745-9665C>T
|
NP_777626.1:n.745-9665C>T
|
|
|
NM_174967.2:c.398-9665C>T
|
NP_777627.1:n.398-9665C>T
|
|
|
NM_174968.3:c.970C>T
|
NP_777628.2:p.Arg324Ter
|
|
|
NM_174969.2:c.760C>T
|
NP_777629.1:p.Arg254Ter
|
|
|
NM_174970.2:c.350-9665C>T
|
NP_777630.1:n.350-9665C>T
|
|
|
NM_174971.3:c.922C>T
|
NP_777631.2:p.Arg308Ter
|
|
|
NR_073016.1:n.1031C>T
|
|
|
|
NR_073017.1:n.908C>T
|
|
|
|
NR_073018.1:n.1109-9665C>T
|
|
|
|
NR_073019.1:n.847C>T
|
|
|
|
NR_073020.1:n.764C>T
|
|
|
|
NR_073021.1:n.923-9665C>T
|
|
|
|
NR_073023.1:n.652C>T
|
|
|
|
XM_006710825.2:c.808C>T
|
XP_006710888.1:p.Arg270Ter
|
|
|
XM_006710826.2:c.805C>T
|
XP_006710889.1:p.Arg269Ter
|
|
|
XM_006710827.2:c.760C>T
|
XP_006710890.1:p.Arg254Ter
|
|
|
XM_006710828.2:c.529C>T
|
XP_006710891.1:p.Arg177Ter
|
|
|
XM_006710829.2:c.487C>T
|
XP_006710892.1:p.Arg163Ter
|
|
|
XM_011541972.1:c.1015C>T
|
XP_011540274.1:p.Arg339Ter
|
|
|
XM_011541973.1:c.1015C>T
|
XP_011540275.1:p.Arg339Ter
|
|
|
XM_011541974.1:c.970C>T
|
XP_011540276.1:p.Arg324Ter
|
|
|
XM_011541975.1:c.967C>T
|
XP_011540277.1:p.Arg323Ter
|
|
|
XM_011541976.1:c.922C>T
|
XP_011540278.1:p.Arg308Ter
|
|
|
XM_011541977.1:c.853C>T
|
XP_011540279.1:p.Arg285Ter
|
|
|
XM_011541978.1:c.847C>T
|
XP_011540280.1:p.Arg283Ter
|
|
|
XM_011541979.1:c.685C>T
|
XP_011540281.1:p.Arg229Ter
|
|
|
XM_011541980.1:c.643C>T
|
XP_011540282.1:p.Arg215Ter
|
|
|
XM_011541981.1:c.952-9665C>T
|
XP_011540283.1:n.952-9665C>T
|
|
|
XM_011541982.1:c.529C>T
|
XP_011540284.1:p.Arg177Ter
|
|
|
XM_011541983.1:c.526C>T
|
XP_011540285.1:p.Arg176Ter
|
|
|
XM_011541986.1:c.*104C>T
|
XP_011540288.1:n.*104C>T
|
|
|
XM_011541987.1:c.487C>T
|
XP_011540289.1:p.Arg163Ter
|
|
|
XM_011541988.1:c.487C>T
|
XP_011540290.1:p.Arg163Ter
|
|
|
XM_011541989.1:c.*23-9665C>T
|
XP_011540291.1:n.*23-9665C>T
|
|
|
XM_011541990.1:c.169C>T
|
XP_011540292.1:p.Arg57Ter
|
|
|
XR_946745.1:n.1241C>T
|
|
|
|
NM_001270461.2:c.697-9665C>T
|
NP_001257390.1:n.697-9665C>T
|
|
|
NM_001270462.2:c.604-9665C>T
|
NP_001257391.1:n.604-9665C>T
|
|
|
NM_001270463.2:c.555-9665C>T
|
NP_001257392.1:n.555-9665C>T
|
|
|
NM_001270464.2:c.510-9665C>T
|
NP_001257393.1:n.510-9665C>T
|
|
|
NM_001270465.2:c.*23-9665C>T
|
NP_001257394.1:n.*23-9665C>T
|
|
|
NM_001270466.2:c.255-9665C>T
|
NP_001257395.1:n.255-9665C>T
|
|
|
NM_001350619.1:c.853C>T
|
NP_001337548.1:p.Arg285Ter
|
|
|
NM_001350620.1:c.808C>T
|
NP_001337549.1:p.Arg270Ter
|
|
|
NM_001350621.1:c.529C>T
|
NP_001337550.1:p.Arg177Ter
|
|
|
NM_001363573.1:c.907-9665C>T
|
NP_001350502.1:n.907-9665C>T
|
|
|
NM_006279.4:c.808C>T
|
NP_006270.1:p.Arg270Ter
|
|
|
NM_174963.4:c.1015C>T
|
NP_777623.2:p.Arg339Ter
|
|
|
NM_174964.3:c.853C>T
|
NP_777624.1:p.Arg285Ter
|
|
|
NM_174965.3:c.443-9665C>T
|
NP_777625.1:n.443-9665C>T
|
|
|
NM_174966.3:c.745-9665C>T
|
NP_777626.1:n.745-9665C>T
|
|
|
NM_174967.3:c.398-9665C>T
|
NP_777627.1:n.398-9665C>T
|
|
|
NM_174968.4:c.970C>T
|
NP_777628.2:p.Arg324Ter
|
|
|
NM_174969.3:c.760C>T
|
NP_777629.1:p.Arg254Ter
|
|
|
NM_174970.3:c.350-9665C>T
|
NP_777630.1:n.350-9665C>T
|
|
|
NM_174971.4:c.922C>T
|
NP_777631.2:p.Arg308Ter
|
|
|
NR_073016.2:n.1067C>T
|
|
|
|
NR_073017.2:n.944C>T
|
|
|
|
NR_073018.2:n.1145-9665C>T
|
|
|
|
NR_073019.2:n.883C>T
|
|
|
|
NR_073020.2:n.800C>T
|
|
|
|
NR_073021.2:n.959-9665C>T
|
|
|
|
NR_073023.2:n.688C>T
|
|
|
|
NR_146867.1:n.1067C>T
|
|
|
|
XM_006710827.4:c.760C>T
|
XP_006710890.1:p.Arg254Ter
|
|
|
XM_011541973.2:c.1015C>T
|
XP_011540275.1:p.Arg339Ter
|
|
|
XM_011541974.2:c.970C>T
|
XP_011540276.1:p.Arg324Ter
|
|
|
XM_011541976.2:c.922C>T
|
XP_011540278.1:p.Arg308Ter
|
|
|
XM_011541980.3:c.643C>T
|
XP_011540282.1:p.Arg215Ter
|
|
|
XM_011541981.2:c.952-9665C>T
|
XP_011540283.1:n.952-9665C>T
|
|
|
XM_011541983.2:c.526C>T
|
XP_011540285.1:p.Arg176Ter
|
|
|
XM_011541986.3:c.*104C>T
|
XP_011540288.1:n.*104C>T
|
|
|
XM_011541987.2:c.487C>T
|
XP_011540289.1:p.Arg163Ter
|
|
|
XM_011541988.2:c.487C>T
|
XP_011540290.1:p.Arg163Ter
|
|
|
XM_017002109.2:c.1015C>T
|
XP_016857598.1:p.Arg339Ter
|
|
|
XM_017002113.1:c.808C>T
|
XP_016857602.1:p.Arg270Ter
|
|
|
XM_017002114.1:c.529C>T
|
XP_016857603.1:p.Arg177Ter
|
|
|
XM_017002115.1:c.529C>T
|
XP_016857604.1:p.Arg177Ter
|
|
|
XM_017002116.1:c.526C>T
|
XP_016857605.1:p.Arg176Ter
|
|
|
XM_017002120.1:c.487C>T
|
XP_016857609.1:p.Arg163Ter
|
|
|
XM_017002121.1:c.487C>T
|
XP_016857610.1:p.Arg163Ter
|
|
|
XR_946745.2:n.1240C>T
|
|
|
|
NM_001270459.2:c.745-27C>T
|
NP_001257388.1:n.745-27C>T
|
|
|
NM_001270460.2:c.715C>T
|
NP_001257389.1:p.Arg239Ter
|
|
|
NM_001270461.3:c.697-9665C>T
|
NP_001257390.1:n.697-9665C>T
|
|
|
NM_001270462.3:c.604-9665C>T
|
NP_001257391.1:n.604-9665C>T
|
|
|
NM_001270463.3:c.555-9665C>T
|
NP_001257392.1:n.555-9665C>T
|
|
|
NM_001270464.3:c.510-9665C>T
|
NP_001257393.1:n.510-9665C>T
|
|
|
NM_001350619.2:c.853C>T
|
NP_001337548.1:p.Arg285Ter
|
|
|
NM_001350620.2:c.808C>T
|
NP_001337549.1:p.Arg270Ter
|
|
|
NM_001350621.2:c.529C>T
|
NP_001337550.1:p.Arg177Ter
|
|
|
NM_001363573.2:c.907-9665C>T
|
NP_001350502.1:n.907-9665C>T
|
|
|
NM_006279.5:c.808C>T
MANE Select
|
NP_006270.1:p.Arg270Ter
|
|
|
NM_174963.5:c.1015C>T
|
NP_777623.2:p.Arg339Ter
|
|
|
NM_174964.4:c.853C>T
|
NP_777624.1:p.Arg285Ter
|
|
|
NM_174966.4:c.745-9665C>T
|
NP_777626.1:n.745-9665C>T
|
|
|
NM_174967.4:c.398-9665C>T
|
NP_777627.1:n.398-9665C>T
|
|
|
NM_174968.5:c.970C>T
|
NP_777628.2:p.Arg324Ter
|
|
|
NM_174969.4:c.760C>T
|
NP_777629.1:p.Arg254Ter
|
|
|
NM_174970.4:c.350-9665C>T
|
NP_777630.1:n.350-9665C>T
|
|
|
NM_174971.5:c.922C>T
|
NP_777631.2:p.Arg308Ter
|
|
|
NR_073016.3:n.1028C>T
|
|
|
|
NR_073017.3:n.905C>T
|
|
|
|
NR_073018.3:n.1106-9665C>T
|
|
|
|
NR_073019.3:n.844C>T
|
|
|
|
NR_073020.3:n.761C>T
|
|
|
|
NR_073021.3:n.920-9665C>T
|
|
|
|
NR_073023.3:n.649C>T
|
|
|
|
NR_146867.2:n.1028C>T
|
|
|
|
NM_001270465.3:c.*23-9665C>T
|
NP_001257394.1:n.*23-9665C>T
|
|
|
NM_001270466.3:c.255-9665C>T
|
NP_001257395.1:n.255-9665C>T
|
|
|
NM_174965.4:c.443-9665C>T
|
NP_777625.1:n.443-9665C>T
|
|
