|
ENST00000354674.5:c.2842G>C
(SYNE1)
MANE Plus Clinical
|
ENSP00000346701.4:p.Glu948Gln
|
|
|
ENST00000367255.10:c.26308G>C
(SYNE1)
MANE Select
|
ENSP00000356224.5:p.Glu8770Gln
|
|
|
ENST00000423061.6:c.26164G>C
(SYNE1)
|
ENSP00000396024.1:p.Glu8722Gln
|
|
|
ENST00000672154.1:c.1651G>C
(SYNE1)
|
|
|
|
ENST00000672169.1:c.2026G>C
(SYNE1)
|
|
|
|
ENST00000673173.1:c.1893G>C
(SYNE1)
|
|
|
|
ENST00000673451.1:c.2158G>C
(SYNE1)
|
ENSP00000500189.1:n.2158G>C
|
|
|
ENST00000341594.9:c.25093G>C
(SYNE1)
|
ENSP00000341887.6:p.Glu8365Gln
|
|
|
ENST00000347037.9:n.3056G>C
(SYNE1)
|
|
|
|
ENST00000354674.4:c.2842G>C
(SYNE1)
|
ENSP00000346701.4:p.Glu948Gln
|
|
|
ENST00000367251.7:c.5084G>C
(SYNE1)
|
ENSP00000356220.3:n.5084G>C
|
|
|
ENST00000367255.9:c.26308G>C
(SYNE1)
|
ENSP00000356224.5:p.Glu8770Gln
|
|
|
ENST00000367256.9:n.10000G>C
(SYNE1)
|
|
|
|
ENST00000367257.8:c.4187G>C
(SYNE1)
|
ENSP00000356226.4:n.4187G>C
|
|
|
ENST00000409694.6:n.9892G>C
(SYNE1)
|
|
|
|
ENST00000423061.5:c.26164G>C
(SYNE1)
|
ENSP00000396024.1:p.Glu8722Gln
|
|
|
ENST00000427531.6:c.851-2744C>G
(ESR1)
|
ENSP00000394721.2:n.851-2744C>G
|
|
|
ENST00000460912.6:n.2922G>C
(SYNE1)
|
|
|
|
ENST00000478916.5:n.6945G>C
(SYNE1)
|
|
|
|
ENST00000539504.5:c.2773G>C
(SYNE1)
|
ENSP00000441052.1:p.Glu925Gln
|
|
|
NM_033071.3:c.26164G>C
(SYNE1)
|
NP_149062.1:p.Glu8722Gln
|
|
|
NM_182961.3:c.26308G>C
(SYNE1)
|
NP_892006.3:p.Glu8770Gln
|
|
|
XM_006715407.1:c.26455G>C
(SYNE1)
|
XP_006715470.1:p.Glu8819Gln
|
|
|
XM_006715408.1:c.26443G>C
(SYNE1)
|
XP_006715471.1:p.Glu8815Gln
|
|
|
XM_006715409.1:c.26434G>C
(SYNE1)
|
XP_006715472.1:p.Glu8812Gln
|
|
|
XM_006715410.1:c.26413G>C
(SYNE1)
|
XP_006715473.1:p.Glu8805Gln
|
|
|
XM_006715411.1:c.26404G>C
(SYNE1)
|
XP_006715474.1:p.Glu8802Gln
|
|
|
XM_006715412.1:c.26398G>C
(SYNE1)
|
XP_006715475.1:p.Glu8800Gln
|
|
|
XM_006715413.1:c.26386G>C
(SYNE1)
|
XP_006715476.1:p.Glu8796Gln
|
|
|
XM_006715414.1:c.26383G>C
(SYNE1)
|
XP_006715477.1:p.Glu8795Gln
|
|
|
XM_006715415.1:c.26344G>C
(SYNE1)
|
XP_006715478.1:p.Glu8782Gln
|
|
|
XM_006715416.1:c.26329G>C
(SYNE1)
|
XP_006715479.1:p.Glu8777Gln
|
|
|
XM_006715417.1:c.26314G>C
(SYNE1)
|
XP_006715480.1:p.Glu8772Gln
|
|
|
XM_006715420.1:c.26302G>C
(SYNE1)
|
XP_006715483.1:p.Glu8768Gln
|
|
|
XM_006715421.1:c.26299G>C
(SYNE1)
|
XP_006715484.1:p.Glu8767Gln
|
|
|
XM_006715422.1:c.26296G>C
(SYNE1)
|
XP_006715485.1:p.Glu8766Gln
|
|
|
XM_006715423.1:c.*119G>C
(SYNE1)
|
XP_006715486.1:n.*119G>C
|
|
|
XM_006715424.1:c.*119G>C
(SYNE1)
|
XP_006715487.1:n.*119G>C
|
|
|
XM_006715425.1:c.*119G>C
(SYNE1)
|
XP_006715488.1:n.*119G>C
|
|
|
XM_011535641.1:c.26452G>C
(SYNE1)
|
XP_011533943.1:p.Glu8818Gln
|
|
|
XM_011535642.1:c.26440G>C
(SYNE1)
|
XP_011533944.1:p.Glu8814Gln
|
|
|
XM_011535643.1:c.26290G>C
(SYNE1)
|
XP_011533945.1:p.Glu8764Gln
|
|
|
XM_011535644.1:c.24730G>C
(SYNE1)
|
XP_011533946.1:p.Glu8244Gln
|
|
|
XM_011535645.1:c.24223G>C
(SYNE1)
|
XP_011533947.1:p.Glu8075Gln
|
|
|
XM_011535647.1:c.19690G>C
(SYNE1)
|
XP_011533949.1:p.Glu6564Gln
|
|
|
NM_001328100.1:c.851-2744C>G
(ESR1)
|
NP_001315029.1:n.851-2744C>G
|
|
|
NM_001347701.1:c.*119G>C
(SYNE1)
|
NP_001334630.1:n.*119G>C
|
|
|
NM_001347702.1:c.2842G>C
(SYNE1)
|
NP_001334631.1:p.Glu948Gln
|
|
|
XM_006715408.2:c.26443G>C
(SYNE1)
|
XP_006715471.1:p.Glu8815Gln
|
|
|
XM_006715410.2:c.26413G>C
(SYNE1)
|
XP_006715473.1:p.Glu8805Gln
|
|
|
XM_006715412.2:c.26398G>C
(SYNE1)
|
XP_006715475.1:p.Glu8800Gln
|
|
|
XM_006715413.2:c.26386G>C
(SYNE1)
|
XP_006715476.1:p.Glu8796Gln
|
|
|
XM_006715415.2:c.26344G>C
(SYNE1)
|
XP_006715478.1:p.Glu8782Gln
|
|
|
XM_006715416.2:c.26329G>C
(SYNE1)
|
XP_006715479.1:p.Glu8777Gln
|
|
|
XM_006715417.2:c.26314G>C
(SYNE1)
|
XP_006715480.1:p.Glu8772Gln
|
|
|
XM_006715420.2:c.26302G>C
(SYNE1)
|
XP_006715483.1:p.Glu8768Gln
|
|
|
XM_006715421.2:c.26299G>C
(SYNE1)
|
XP_006715484.1:p.Glu8767Gln
|
|
|
XM_006715423.2:c.*119G>C
(SYNE1)
|
XP_006715486.1:n.*119G>C
|
|
|
XM_006715424.2:c.*119G>C
(SYNE1)
|
XP_006715487.1:n.*119G>C
|
|
|
XM_006715425.2:c.*119G>C
(SYNE1)
|
XP_006715488.1:n.*119G>C
|
|
|
XM_011535641.2:c.26452G>C
(SYNE1)
|
XP_011533943.1:p.Glu8818Gln
|
|
|
XM_011535642.2:c.26440G>C
(SYNE1)
|
XP_011533944.1:p.Glu8814Gln
|
|
|
XM_011535645.2:c.24223G>C
(SYNE1)
|
XP_011533947.1:p.Glu8075Gln
|
|
|
XM_017010608.1:c.26455G>C
(SYNE1)
|
XP_016866097.1:p.Glu8819Gln
|
|
|
XM_017010609.1:c.26455G>C
(SYNE1)
|
XP_016866098.1:p.Glu8819Gln
|
|
|
XM_017010610.1:c.26434G>C
(SYNE1)
|
XP_016866099.1:p.Glu8812Gln
|
|
|
XM_017010611.2:c.26428G>C
(SYNE1)
|
XP_016866100.1:p.Glu8810Gln
|
|
|
XM_017010612.1:c.26377G>C
(SYNE1)
|
XP_016866101.1:p.Glu8793Gln
|
|
|
XM_017010613.1:c.26341G>C
(SYNE1)
|
XP_016866102.1:p.Glu8781Gln
|
|
|
XM_017010614.1:c.26299G>C
(SYNE1)
|
XP_016866103.1:p.Glu8767Gln
|
|
|
XM_017010615.1:c.26188G>C
(SYNE1)
|
XP_016866104.1:p.Glu8730Gln
|
|
|
XM_017010616.1:c.*119G>C
(SYNE1)
|
XP_016866105.1:n.*119G>C
|
|
|
XM_017010617.1:c.*119G>C
(SYNE1)
|
XP_016866106.1:n.*119G>C
|
|
|
XM_017010618.1:c.*119G>C
(SYNE1)
|
XP_016866107.1:n.*119G>C
|
|
|
XM_017010619.1:c.24730G>C
(SYNE1)
|
XP_016866108.1:p.Glu8244Gln
|
|
|
NM_182961.4:c.26308G>C
(SYNE1)
MANE Select
|
NP_892006.3:p.Glu8770Gln
|
|
|
NM_001328100.2:c.851-2744C>G
(ESR1)
|
NP_001315029.1:n.851-2744C>G
|
|
|
NM_001347701.2:c.*119G>C
(SYNE1)
|
NP_001334630.1:n.*119G>C
|
|
|
NM_001347702.2:c.2842G>C
(SYNE1)
MANE Plus Clinical
|
NP_001334631.1:p.Glu948Gln
|
|
|
NM_033071.5:c.26164G>C
(SYNE1)
|
NP_149062.2:p.Glu8722Gln
|
|
