|
ENST00000434685.6:c.3075-5148A>T
(NEB)
|
|
|
|
ENST00000688578.1:c.900-609A>T
(NEB)
|
|
|
|
ENST00000690043.1:c.6378-3389A>T
(NEB)
|
|
|
|
ENST00000693000.1:n.2657-5148A>T
(NEB)
|
|
|
|
ENST00000397345.8:c.24284A>T
(NEB)
MANE Select
|
ENSP00000380505.3:p.Gln8095Leu
|
|
|
ENST00000427231.7:c.24284A>T
(NEB)
MANE Plus Clinical
|
ENSP00000416578.2:p.Gln8095Leu
|
|
|
ENST00000172853.14:c.18826-1274A>T
(NEB)
|
ENSP00000172853.10:n.18826-1274A>T
|
|
|
ENST00000397337.6:c.685A>T
(NEB)
|
|
|
|
ENST00000397345.7:c.24284A>T
(NEB)
|
ENSP00000380505.3:p.Gln8095Leu
|
|
|
ENST00000409198.5:c.18826-1274A>T
(NEB)
|
ENSP00000386259.1:n.18826-1274A>T
|
|
|
ENST00000413693.5:c.8026-1274A>T
(NEB)
|
ENSP00000410961.1:n.8026-1274A>T
|
|
|
ENST00000421461.6:c.720A>T
(NEB)
|
|
|
|
ENST00000424585.1:c.610-609A>T
(NEB)
|
ENSP00000404876.1:n.610-609A>T
|
|
|
ENST00000427231.6:c.24284A>T
(NEB)
|
ENSP00000416578.2:p.Gln8095Leu
|
|
|
ENST00000434685.5:c.1395-3389A>T
(NEB)
|
|
|
|
ENST00000454583.6:c.2754-1703T>A
(RIF1)
|
|
|
|
ENST00000457745.1:n.579-144T>A
(RIF1)
|
|
|
|
ENST00000484077.1:n.353-144T>A
(RIF1)
|
|
|
|
ENST00000498015.2:n.226-5148A>T
(NEB)
|
|
|
|
ENST00000603639.5:c.24284A>T
(NEB)
|
ENSP00000473894.1:p.Gln8095Leu
|
|
|
ENST00000604864.5:c.24284A>T
(NEB)
|
ENSP00000474498.1:p.Gln8095Leu
|
|
|
ENST00000618972.4:c.24389A>T
(NEB)
|
ENSP00000484342.1:p.Gln8130Leu
|
|
|
NM_001164507.1:c.24284A>T
(NEB)
|
NP_001157979.1:p.Gln8095Leu
|
|
|
NM_001164508.1:c.24284A>T
(NEB)
|
NP_001157980.1:p.Gln8095Leu
|
|
|
NM_001271208.1:c.24389A>T , LRG_202t1:c.24389A>T
(NEB)
|
NP_001258137.1:p.Gln8130Leu
|
|
|
NM_004543.4:c.18826-1274A>T
(NEB)
|
NP_004534.2:n.18826-1274A>T
|
|
|
XM_005246590.1:c.24191A>T
(NEB)
|
XP_005246647.1:p.Gln8064Leu
|
|
|
XM_005246591.1:c.24191A>T
(NEB)
|
XP_005246648.1:p.Gln8064Leu
|
|
|
XM_005246592.1:c.24284A>T
(NEB)
|
XP_005246649.1:p.Gln8095Leu
|
|
|
XM_005246593.1:c.24284A>T
(NEB)
|
XP_005246650.1:p.Gln8095Leu
|
|
|
XM_005246594.1:c.24191A>T
(NEB)
|
XP_005246651.1:p.Gln8064Leu
|
|
|
XM_005246595.1:c.24191A>T
(NEB)
|
XP_005246652.1:p.Gln8064Leu
|
|
|
XM_005246596.1:c.24098A>T
(NEB)
|
XP_005246653.1:p.Gln8033Leu
|
|
|
XM_005246597.1:c.24284A>T
(NEB)
|
XP_005246654.1:p.Gln8095Leu
|
|
|
XM_005246598.1:c.24284A>T
(NEB)
|
XP_005246655.1:p.Gln8095Leu
|
|
|
XM_005246599.1:c.24005A>T
(NEB)
|
XP_005246656.1:p.Gln8002Leu
|
|
|
XM_005246600.1:c.24005A>T
(NEB)
|
XP_005246657.1:p.Gln8002Leu
|
|
|
XM_005246601.1:c.23929-609A>T
(NEB)
|
XP_005246658.1:n.23929-609A>T
|
|
|
XM_005246602.1:c.23912A>T
(NEB)
|
XP_005246659.1:p.Gln7971Leu
|
|
|
XM_005246603.1:c.23929-1274A>T
(NEB)
|
XP_005246660.1:n.23929-1274A>T
|
|
|
XM_005246604.1:c.23929-609A>T
(NEB)
|
XP_005246661.1:n.23929-609A>T
|
|
|
XM_005246606.1:c.23912A>T
(NEB)
|
XP_005246663.1:p.Gln7971Leu
|
|
|
XM_005246608.1:c.23929-3389A>T
(NEB)
|
XP_005246665.1:n.23929-3389A>T
|
|
|
XM_005246610.1:c.23836-3389A>T
(NEB)
|
XP_005246667.1:n.23836-3389A>T
|
|
|
XM_005246611.1:c.24021+3749A>T
(NEB)
|
XP_005246668.1:n.24021+3749A>T
|
|
|
XM_005246612.1:c.23555A>T
(NEB)
|
XP_005246669.1:p.Gln7852Leu
|
|
|
XM_005246613.1:c.23555A>T
(NEB)
|
XP_005246670.1:p.Gln7852Leu
|
|
|
XM_005246615.1:c.23912A>T
(NEB)
|
XP_005246672.1:p.Gln7971Leu
|
|
|
XM_005246616.1:c.*582A>T
(NEB)
|
XP_005246673.1:n.*582A>T
|
|
|
XM_005246617.1:c.21368A>T
(NEB)
|
XP_005246674.1:p.Gln7123Leu
|
|
|
XM_006712541.1:c.23929-1274A>T
(NEB)
|
XP_006712604.1:n.23929-1274A>T
|
|
|
XM_006712542.1:c.24005A>T
(NEB)
|
XP_006712605.1:p.Gln8002Leu
|
|
|
XM_011511224.1:c.24191A>T
(NEB)
|
XP_011509526.1:p.Gln8064Leu
|
|
|
XM_011511225.1:c.23743-3389A>T
(NEB)
|
XP_011509527.1:n.23743-3389A>T
|
|
|
XM_011511226.1:c.22097A>T
(NEB)
|
XP_011509528.1:p.Gln7366Leu
|
|
|
XM_011511227.1:c.19910A>T
(NEB)
|
XP_011509529.1:p.Gln6637Leu
|
|
|
XR_922955.1:n.7838+14307T>A
(RIF1)
|
|
|
|
XR_922956.1:n.7937-144T>A
(RIF1)
|
|
|
|
XR_922957.1:n.7839-144T>A
(RIF1)
|
|
|
|
XM_005246590.2:c.24191A>T
(NEB)
|
XP_005246647.1:p.Gln8064Leu
|
|
|
XM_005246591.2:c.24191A>T
(NEB)
|
XP_005246648.1:p.Gln8064Leu
|
|
|
XM_005246592.2:c.24284A>T
(NEB)
|
XP_005246649.1:p.Gln8095Leu
|
|
|
XM_005246593.2:c.24284A>T
(NEB)
|
XP_005246650.1:p.Gln8095Leu
|
|
|
XM_005246594.2:c.24191A>T
(NEB)
|
XP_005246651.1:p.Gln8064Leu
|
|
|
XM_005246596.2:c.24098A>T
(NEB)
|
XP_005246653.1:p.Gln8033Leu
|
|
|
XM_005246597.2:c.24284A>T
(NEB)
|
XP_005246654.1:p.Gln8095Leu
|
|
|
XM_005246598.2:c.24284A>T
(NEB)
|
XP_005246655.1:p.Gln8095Leu
|
|
|
XM_005246599.2:c.24005A>T
(NEB)
|
XP_005246656.1:p.Gln8002Leu
|
|
|
XM_005246601.2:c.23929-609A>T
(NEB)
|
XP_005246658.1:n.23929-609A>T
|
|
|
XM_005246602.2:c.23912A>T
(NEB)
|
XP_005246659.1:p.Gln7971Leu
|
|
|
XM_005246603.2:c.23929-1274A>T
(NEB)
|
XP_005246660.1:n.23929-1274A>T
|
|
|
XM_005246604.2:c.23929-609A>T
(NEB)
|
XP_005246661.1:n.23929-609A>T
|
|
|
XM_005246606.2:c.23912A>T
(NEB)
|
XP_005246663.1:p.Gln7971Leu
|
|
|
XM_005246608.2:c.23929-3389A>T
(NEB)
|
XP_005246665.1:n.23929-3389A>T
|
|
|
XM_005246610.2:c.23836-3389A>T
(NEB)
|
XP_005246667.1:n.23836-3389A>T
|
|
|
XM_005246611.2:c.24021+3749A>T
(NEB)
|
XP_005246668.1:n.24021+3749A>T
|
|
|
XM_005246612.2:c.23555A>T
(NEB)
|
XP_005246669.1:p.Gln7852Leu
|
|
|
XM_005246613.2:c.23555A>T
(NEB)
|
XP_005246670.1:p.Gln7852Leu
|
|
|
XM_005246615.2:c.23912A>T
(NEB)
|
XP_005246672.1:p.Gln7971Leu
|
|
|
XM_005246617.2:c.21368A>T
(NEB)
|
XP_005246674.1:p.Gln7123Leu
|
|
|
XM_006712541.2:c.23929-1274A>T
(NEB)
|
XP_006712604.1:n.23929-1274A>T
|
|
|
XM_006712542.2:c.24005A>T
(NEB)
|
XP_006712605.1:p.Gln8002Leu
|
|
|
XM_011511225.2:c.23743-3389A>T
(NEB)
|
XP_011509527.1:n.23743-3389A>T
|
|
|
XM_011511226.2:c.22097A>T
(NEB)
|
XP_011509528.1:p.Gln7366Leu
|
|
|
XM_011511227.2:c.19910A>T
(NEB)
|
XP_011509529.1:p.Gln6637Leu
|
|
|
XM_017004177.1:c.24173A>T
(NEB)
|
XP_016859666.1:p.Gln8058Leu
|
|
|
XM_017004178.1:c.24098A>T
(NEB)
|
XP_016859667.1:p.Gln8033Leu
|
|
|
XM_017004179.1:c.23836-609A>T
(NEB)
|
XP_016859668.1:n.23836-609A>T
|
|
|
XM_017004180.1:c.23819A>T
(NEB)
|
XP_016859669.1:p.Gln7940Leu
|
|
|
XM_017004181.1:c.23836-1274A>T
(NEB)
|
XP_016859670.1:n.23836-1274A>T
|
|
|
XM_017004182.1:c.23836-1274A>T
(NEB)
|
XP_016859671.1:n.23836-1274A>T
|
|
|
XM_017004183.1:c.23836-3389A>T
(NEB)
|
XP_016859672.1:n.23836-3389A>T
|
|
|
XM_017004184.1:c.23836-1274A>T
(NEB)
|
XP_016859673.1:n.23836-1274A>T
|
|
|
XM_017004185.1:c.23743-5148A>T
(NEB)
|
XP_016859674.1:n.23743-5148A>T
|
|
|
XR_001738811.2:n.8312-144T>A
(RIF1)
|
|
|
|
XR_001738812.2:n.8312-1763T>A
(RIF1)
|
|
|
|
XR_001738813.2:n.8214-144T>A
(RIF1)
|
|
|
|
XR_001738814.2:n.8214-1763T>A
(RIF1)
|
|
|
|
XR_001738815.2:n.8214-5392T>A
(RIF1)
|
|
|
|
XR_001738816.2:n.8214-8568T>A
(RIF1)
|
|
|
|
XR_001738817.2:n.8213+14307T>A
(RIF1)
|
|
|
|
NM_001271208.2:c.24389A>T
(NEB)
|
NP_001258137.2:p.Gln8130Leu
|
|
|
NM_004543.5:c.18826-1274A>T
(NEB)
|
NP_004534.3:n.18826-1274A>T
|
|
|
NM_001164507.2:c.24284A>T
(NEB)
MANE Plus Clinical
|
NP_001157979.2:p.Gln8095Leu
|
|
|
NM_001164508.2:c.24284A>T
(NEB)
MANE Select
|
NP_001157980.2:p.Gln8095Leu
|
|
