|
NM_006279.5:c.990C>T
MANE Select
|
NP_006270.1:p.Asn330=
|
|
ENST00000347631.8:c.990C>T
MANE Select
|
ENSP00000317192.6:p.Asn330=
|
|
NM_001270459.1:c.900C>T
|
NP_001257388.1:p.Asn300=
|
|
NM_001270459.2:c.900C>T
|
NP_001257388.1:p.Asn300=
|
|
NM_001270460.1:c.897C>T
|
NP_001257389.1:p.Asn299=
|
|
NM_001270460.2:c.897C>T
|
NP_001257389.1:p.Asn299=
|
|
NM_001270461.1:c.697-9252C>T
|
NP_001257390.1:n.697-9252C>T
|
|
NM_001270461.2:c.697-9252C>T
|
NP_001257390.1:n.697-9252C>T
|
|
NM_001270461.3:c.697-9252C>T
|
NP_001257390.1:n.697-9252C>T
|
|
NM_001270462.1:c.604-9252C>T
|
NP_001257391.1:n.604-9252C>T
|
|
NM_001270462.2:c.604-9252C>T
|
NP_001257391.1:n.604-9252C>T
|
|
NM_001270462.3:c.604-9252C>T
|
NP_001257391.1:n.604-9252C>T
|
|
NM_001270463.1:c.555-9252C>T
|
NP_001257392.1:n.555-9252C>T
|
|
NM_001270463.2:c.555-9252C>T
|
NP_001257392.1:n.555-9252C>T
|
|
NM_001270463.3:c.555-9252C>T
|
NP_001257392.1:n.555-9252C>T
|
|
NM_001270464.1:c.510-9252C>T
|
NP_001257393.1:n.510-9252C>T
|
|
NM_001270464.2:c.510-9252C>T
|
NP_001257393.1:n.510-9252C>T
|
|
NM_001270464.3:c.510-9252C>T
|
NP_001257393.1:n.510-9252C>T
|
|
NM_001270465.1:c.*23-9252C>T
|
NP_001257394.1:n.*23-9252C>T
|
|
NM_001270465.2:c.*23-9252C>T
|
NP_001257394.1:n.*23-9252C>T
|
|
NM_001270465.3:c.*23-9252C>T
|
NP_001257394.1:n.*23-9252C>T
|
|
NM_001270466.1:c.255-9252C>T
|
NP_001257395.1:n.255-9252C>T
|
|
NM_001270466.2:c.255-9252C>T
|
NP_001257395.1:n.255-9252C>T
|
|
NM_001270466.3:c.255-9252C>T
|
NP_001257395.1:n.255-9252C>T
|
|
NM_001350619.1:c.1035C>T
|
NP_001337548.1:p.Asn345=
|
|
NM_001350619.2:c.1035C>T
|
NP_001337548.1:p.Asn345=
|
|
NM_001350620.1:c.990C>T
|
NP_001337549.1:p.Asn330=
|
|
NM_001350620.2:c.990C>T
|
NP_001337549.1:p.Asn330=
|
|
NM_001350621.1:c.711C>T
|
NP_001337550.1:p.Asn237=
|
|
NM_001350621.2:c.711C>T
|
NP_001337550.1:p.Asn237=
|
|
NM_001363573.1:c.907-9252C>T
|
NP_001350502.1:n.907-9252C>T
|
|
NM_001363573.2:c.907-9252C>T
|
NP_001350502.1:n.907-9252C>T
|
|
NM_006279.3:c.990C>T
|
NP_006270.1:p.Asn330=
|
|
NM_006279.4:c.990C>T
|
NP_006270.1:p.Asn330=
|
|
NM_174963.3:c.1197C>T
|
NP_777623.2:p.Asn399=
|
|
NM_174963.4:c.1197C>T
|
NP_777623.2:p.Asn399=
|
|
NM_174963.5:c.1197C>T
|
NP_777623.2:p.Asn399=
|
|
NM_174964.2:c.1035C>T
|
NP_777624.1:p.Asn345=
|
|
NM_174964.3:c.1035C>T
|
NP_777624.1:p.Asn345=
|
|
NM_174964.4:c.1035C>T
|
NP_777624.1:p.Asn345=
|
|
NM_174965.2:c.443-9252C>T
|
NP_777625.1:n.443-9252C>T
|
|
NM_174965.3:c.443-9252C>T
|
NP_777625.1:n.443-9252C>T
|
|
NM_174965.4:c.443-9252C>T
|
NP_777625.1:n.443-9252C>T
|
|
NM_174966.2:c.745-9252C>T
|
NP_777626.1:n.745-9252C>T
|
|
NM_174966.3:c.745-9252C>T
|
NP_777626.1:n.745-9252C>T
|
|
NM_174966.4:c.745-9252C>T
|
NP_777626.1:n.745-9252C>T
|
|
NM_174967.2:c.398-9252C>T
|
NP_777627.1:n.398-9252C>T
|
|
NM_174967.3:c.398-9252C>T
|
NP_777627.1:n.398-9252C>T
|
|
NM_174967.4:c.398-9252C>T
|
NP_777627.1:n.398-9252C>T
|
|
NM_174968.3:c.1152C>T
|
NP_777628.2:p.Asn384=
|
|
NM_174968.4:c.1152C>T
|
NP_777628.2:p.Asn384=
|
|
NM_174968.5:c.1152C>T
|
NP_777628.2:p.Asn384=
|
|
NM_174969.2:c.942C>T
|
NP_777629.1:p.Asn314=
|
|
NM_174969.3:c.942C>T
|
NP_777629.1:p.Asn314=
|
|
NM_174969.4:c.942C>T
|
NP_777629.1:p.Asn314=
|
|
NM_174970.2:c.350-9252C>T
|
NP_777630.1:n.350-9252C>T
|
|
NM_174970.3:c.350-9252C>T
|
NP_777630.1:n.350-9252C>T
|
|
NM_174970.4:c.350-9252C>T
|
NP_777630.1:n.350-9252C>T
|
|
NM_174971.3:c.1104C>T
|
NP_777631.2:p.Asn368=
|
|
NM_174971.4:c.1104C>T
|
NP_777631.2:p.Asn368=
|
|
NM_174971.5:c.1104C>T
|
NP_777631.2:p.Asn368=
|
|
NR_073016.1:n.1213C>T
|
|
|
NR_073016.2:n.1249C>T
|
|
|
NR_073016.3:n.1210C>T
|
|
|
NR_073017.1:n.1090C>T
|
|
|
NR_073017.2:n.1126C>T
|
|
|
NR_073017.3:n.1087C>T
|
|
|
NR_073018.1:n.1109-9252C>T
|
|
|
NR_073018.2:n.1145-9252C>T
|
|
|
NR_073018.3:n.1106-9252C>T
|
|
|
NR_073019.1:n.1029C>T
|
|
|
NR_073019.2:n.1065C>T
|
|
|
NR_073019.3:n.1026C>T
|
|
|
NR_073020.1:n.946C>T
|
|
|
NR_073020.2:n.982C>T
|
|
|
NR_073020.3:n.943C>T
|
|
|
NR_073021.1:n.923-9252C>T
|
|
|
NR_073021.2:n.959-9252C>T
|
|
|
NR_073021.3:n.920-9252C>T
|
|
|
NR_073023.1:n.834C>T
|
|
|
NR_073023.2:n.870C>T
|
|
|
NR_073023.3:n.831C>T
|
|
|
NR_146867.1:n.1249C>T
|
|
|
NR_146867.2:n.1210C>T
|
|
|
ENST00000262915.7:c.1197C>T
|
ENSP00000262915.3:p.Asn399=
|
|
ENST00000262915.8:c.1197C>T
|
ENSP00000262915.3:p.Asn399=
|
|
ENST00000330208.6:c.255-9252C>T
|
ENSP00000333494.3:n.255-9252C>T
|
|
ENST00000332628.10:c.897C>T
|
ENSP00000329755.6:p.Asn299=
|
|
ENST00000332628.11:c.776C>T
|
|
|
ENST00000335430.10:c.*23-9252C>T
|
ENSP00000335633.7:n.*23-9252C>T
|
|
ENST00000347631.6:c.1035C>T
|
ENSP00000317192.4:p.Asn345=
|
|
ENST00000351035.7:c.1104C>T
|
ENSP00000316999.5:p.Asn368=
|
|
ENST00000351035.8:c.1152C>T
|
ENSP00000316999.6:p.Asn384=
|
|
ENST00000353126.7:c.745-9252C>T
|
ENSP00000330463.3:n.745-9252C>T
|
|
ENST00000353126.8:c.745-9252C>T
|
ENSP00000330463.3:n.745-9252C>T
|
|
ENST00000361392.8:c.990C>T
|
ENSP00000355341.4:p.Asn330=
|
|
ENST00000361392.9:c.1035C>T
|
ENSP00000355341.5:p.Asn345=
|
|
ENST00000361400.8:c.942C>T
|
ENSP00000354748.4:p.Asn314=
|
|
ENST00000361400.9:c.942C>T
|
ENSP00000354748.4:p.Asn314=
|
|
ENST00000361746.8:c.1197C>T
|
ENSP00000354657.4:p.Asn399=
|
|
ENST00000361746.9:c.1083C>T
|
ENSP00000354657.5:p.Asn361=
|
|
ENST00000361812.8:c.443-9252C>T
|
ENSP00000355201.4:n.443-9252C>T
|
|
ENST00000361812.9:c.443-9252C>T
|
ENSP00000355201.4:n.443-9252C>T
|
|
ENST00000372362.6:c.398-9252C>T
|
ENSP00000361437.2:n.398-9252C>T
|
|
ENST00000372365.5:c.584-9252C>T
|
ENSP00000361440.1:n.584-9252C>T
|
|
ENST00000372366.5:c.581-9252C>T
|
ENSP00000361441.1:n.581-9252C>T
|
|
ENST00000372366.6:c.581-9252C>T
|
ENSP00000361441.1:n.581-9252C>T
|
|
ENST00000372367.5:c.555-9252C>T
|
ENSP00000361442.1:n.555-9252C>T
|
|
ENST00000372368.6:c.1152C>T
|
ENSP00000361443.2:p.Asn384=
|
|
ENST00000372368.7:c.1053+330C>T
|
ENSP00000361443.3:n.1053+330C>T
|
|
ENST00000372369.5:c.900C>T
|
ENSP00000361444.1:p.Asn300=
|
|
ENST00000372372.6:c.1104C>T
|
ENSP00000361447.2:p.Asn368=
|
|
ENST00000372372.7:c.1104C>T
|
ENSP00000361447.2:p.Asn368=
|
|
ENST00000372374.6:c.897C>T
|
ENSP00000361449.2:p.Asn299=
|
|
ENST00000372374.7:c.897C>T
|
ENSP00000361449.2:p.Asn299=
|
|
ENST00000469715.5:c.1022C>T
|
ENSP00000431700.1:n.1022C>T
|
|
ENST00000469715.6:c.838C>T
|
ENSP00000431700.2:n.838C>T
|
|
ENST00000489897.5:c.*366-9252C>T
|
ENSP00000437206.1:n.*366-9252C>T
|
|
ENST00000489897.6:c.*366-9252C>T
|
ENSP00000437206.1:n.*366-9252C>T
|
|
ENST00000490502.1:c.386C>T
|
|
|
ENST00000490541.5:c.838C>T
|
ENSP00000435018.1:n.838C>T
|
|
ENST00000490541.6:c.899C>T
|
ENSP00000435018.2:n.899C>T
|
|
ENST00000495482.1:n.527C>T
|
|
|
ENST00000495482.2:n.1537C>T
|
|
|
ENST00000528371.5:c.510-9252C>T
|
ENSP00000434876.1:n.510-9252C>T
|
|
ENST00000530581.5:c.755C>T
|
ENSP00000437293.1:n.755C>T
|
|
ENST00000531451.5:c.350-9252C>T
|
ENSP00000435603.1:n.350-9252C>T
|
|
ENST00000531816.1:c.255-9252C>T
|
ENSP00000434378.1:n.255-9252C>T
|
|
ENST00000531993.5:c.697-9252C>T
|
ENSP00000432682.1:n.697-9252C>T
|
|
ENST00000531993.6:c.604-9252C>T
|
ENSP00000432682.2:n.604-9252C>T
|
|
ENST00000533212.5:c.643C>T
|
ENSP00000435621.1:n.643C>T
|
|
ENST00000533933.5:c.745-9252C>T
|
ENSP00000432965.1:n.745-9252C>T
|
|
ENST00000533933.6:c.834+330C>T
|
ENSP00000432965.2:n.834+330C>T
|
|
ENST00000533997.5:c.918-9252C>T
|
ENSP00000432071.1:n.918-9252C>T
|
|
ENST00000533997.6:c.*570-9252C>T
|
ENSP00000432071.1:n.*570-9252C>T
|
|
ENST00000545417.5:c.443-9252C>T
|
ENSP00000439634.1:n.443-9252C>T
|
|
ENST00000642194.1:c.*187C>T
|
ENSP00000493708.1:n.*187C>T
|
|
ENST00000642331.1:c.1035C>T
|
ENSP00000493823.1:p.Asn345=
|
|
ENST00000642504.1:c.*815C>T
|
ENSP00000494857.1:n.*815C>T
|
|
ENST00000642780.1:c.814C>T
|
|
|
ENST00000642934.1:c.697-9252C>T
|
ENSP00000494146.1:n.697-9252C>T
|
|
ENST00000642949.1:c.*452C>T
|
ENSP00000495709.1:n.*452C>T
|
|
ENST00000643252.1:c.990C>T
|
ENSP00000495333.1:p.Asn330=
|
|
ENST00000643283.1:c.*452C>T
|
ENSP00000494746.1:n.*452C>T
|
|
ENST00000643597.1:c.*189-9252C>T
|
ENSP00000495977.1:n.*189-9252C>T
|
|
ENST00000643813.1:c.1035C>T
|
ENSP00000496646.1:n.1035C>T
|
|
ENST00000644016.1:n.960C>T
|
|
|
ENST00000644195.1:c.990C>T
|
ENSP00000494201.1:p.Asn330=
|
|
ENST00000644287.1:c.884C>T
|
|
|
ENST00000644378.1:n.589-9252C>T
|
|
|
ENST00000644645.1:c.531-9252C>T
|
ENSP00000495647.1:n.531-9252C>T
|
|
ENST00000644922.1:c.712-9252C>T
|
ENSP00000496289.1:n.712-9252C>T
|
|
ENST00000645012.1:n.638C>T
|
|
|
ENST00000645034.1:c.990C>T
|
ENSP00000496350.1:p.Asn330=
|
|
ENST00000645057.1:c.*2312C>T
|
ENSP00000494063.1:n.*2312C>T
|
|
ENST00000645117.1:c.520-9252C>T
|
|
|
ENST00000645142.1:c.*452C>T
|
ENSP00000496550.1:n.*452C>T
|
|
ENST00000645165.1:c.*798C>T
|
ENSP00000493660.1:n.*798C>T
|
|
ENST00000645394.1:c.*452C>T
|
ENSP00000495299.1:n.*452C>T
|
|
ENST00000645640.1:c.*798C>T
|
ENSP00000494852.1:n.*798C>T
|
|
ENST00000645644.1:n.952C>T
|
|
|
ENST00000645670.1:n.1548C>T
|
|
|
ENST00000645705.1:c.*454C>T
|
ENSP00000496492.1:n.*454C>T
|
|
ENST00000646027.1:c.*68C>T
|
ENSP00000494396.1:n.*68C>T
|
|
ENST00000646069.1:c.*46C>T
|
ENSP00000496585.1:n.*46C>T
|
|
ENST00000646686.1:c.942C>T
|
ENSP00000495683.1:p.Asn314=
|
|
ENST00000646971.1:c.990C>T
|
ENSP00000495887.1:p.Asn330=
|
|
ENST00000647128.1:c.*111-9252C>T
|
ENSP00000494374.1:n.*111-9252C>T
|
|
ENST00000647134.1:c.*815C>T
|
ENSP00000495797.1:n.*815C>T
|
|
ENST00000647148.1:c.990C>T
|
ENSP00000495939.1:p.Asn330=
|
|
ENST00000647237.1:c.907-9252C>T
|
ENSP00000495624.1:n.907-9252C>T
|
|
ENST00000647482.1:c.*584C>T
|
ENSP00000495567.1:n.*584C>T
|
|
ENST00000647503.1:c.440-9252C>T
|
|
|
XM_006710825.2:c.990C>T
|
XP_006710888.1:p.Asn330=
|
|
XM_006710826.2:c.987C>T
|
XP_006710889.1:p.Asn329=
|
|
XM_006710827.2:c.942C>T
|
XP_006710890.1:p.Asn314=
|
|
XM_006710827.4:c.942C>T
|
XP_006710890.1:p.Asn314=
|
|
XM_006710828.2:c.711C>T
|
XP_006710891.1:p.Asn237=
|
|
XM_006710829.2:c.669C>T
|
XP_006710892.1:p.Asn223=
|
|
XM_011541972.1:c.1197C>T
|
XP_011540274.1:p.Asn399=
|
|
XM_011541973.1:c.1197C>T
|
XP_011540275.1:p.Asn399=
|
|
XM_011541973.2:c.1197C>T
|
XP_011540275.1:p.Asn399=
|
|
XM_011541974.1:c.1152C>T
|
XP_011540276.1:p.Asn384=
|
|
XM_011541974.2:c.1152C>T
|
XP_011540276.1:p.Asn384=
|
|
XM_011541975.1:c.1149C>T
|
XP_011540277.1:p.Asn383=
|
|
XM_011541976.1:c.1104C>T
|
XP_011540278.1:p.Asn368=
|
|
XM_011541976.2:c.1104C>T
|
XP_011540278.1:p.Asn368=
|
|
XM_011541977.1:c.1035C>T
|
XP_011540279.1:p.Asn345=
|
|
XM_011541978.1:c.1029C>T
|
XP_011540280.1:p.Asn343=
|
|
XM_011541979.1:c.867C>T
|
XP_011540281.1:p.Asn289=
|
|
XM_011541980.1:c.825C>T
|
XP_011540282.1:p.Asn275=
|
|
XM_011541980.3:c.825C>T
|
XP_011540282.1:p.Asn275=
|
|
XM_011541981.1:c.952-9252C>T
|
XP_011540283.1:n.952-9252C>T
|
|
XM_011541981.2:c.952-9252C>T
|
XP_011540283.1:n.952-9252C>T
|
|
XM_011541982.1:c.711C>T
|
XP_011540284.1:p.Asn237=
|
|
XM_011541983.1:c.708C>T
|
XP_011540285.1:p.Asn236=
|
|
XM_011541983.2:c.708C>T
|
XP_011540285.1:p.Asn236=
|
|
XM_011541987.1:c.669C>T
|
XP_011540289.1:p.Asn223=
|
|
XM_011541987.2:c.669C>T
|
XP_011540289.1:p.Asn223=
|
|
XM_011541988.1:c.669C>T
|
XP_011540290.1:p.Asn223=
|
|
XM_011541988.2:c.669C>T
|
XP_011540290.1:p.Asn223=
|
|
XM_011541989.1:c.*23-9252C>T
|
XP_011540291.1:n.*23-9252C>T
|
|
XM_011541990.1:c.351C>T
|
XP_011540292.1:p.Asn117=
|
|
XM_017002109.2:c.1197C>T
|
XP_016857598.1:p.Asn399=
|
|
XM_017002113.1:c.990C>T
|
XP_016857602.1:p.Asn330=
|
|
XM_017002114.1:c.711C>T
|
XP_016857603.1:p.Asn237=
|
|
XM_017002115.1:c.711C>T
|
XP_016857604.1:p.Asn237=
|
|
XM_017002116.1:c.708C>T
|
XP_016857605.1:p.Asn236=
|
|
XM_017002120.1:c.669C>T
|
XP_016857609.1:p.Asn223=
|
|
XM_017002121.1:c.669C>T
|
XP_016857610.1:p.Asn223=
|
|
XR_946745.2:n.1422C>T
|
|
