NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln)
|
rs200335347
|
0.00015
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln)
|
rs1049061686
|
0.00001
|
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)
|
rs121912822
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)
|
rs371470622
|
0.00001
|
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)
|
rs369251527
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)
|
rs1458796820
|
0.00001
|
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)
|
rs1384661323
|
0.00001
|
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)
|
rs121912815
|
0.00001
|
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
|
|
|
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
|
|
|
NM_020549.5(CHAT):c.1282-2A>T
|
|
|
NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)
|
|
|
NM_020549.5(CHAT):c.1382+2_1382+3del
|
|
|
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
|
|
|
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
|
|
|
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
|
|
|
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
|
|
|
NM_020549.5(CHAT):c.156_157insA (p.Gly53fs)
|
|
|
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
|
|
|
NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)
|
|
|
NM_020549.5(CHAT):c.286+1G>T
|
|
|
NM_020549.5(CHAT):c.287-2A>G
|
|
|
NM_020549.5(CHAT):c.349del (p.Arg117fs)
|
rs1198717023
|
|
NM_020549.5(CHAT):c.413del (p.Pro138fs)
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr)
|
rs1838634644
|
|
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
|
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly)
|
rs760936252
|
|
NM_020549.5(CHAT):c.698+1G>T
|
|
|
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer)
|
rs1838384543
|
|