NM_000163.5(GHR):c.1630A>C (p.Ile544Leu)
|
rs6180
|
0.42616
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_000163.5(GHR):c.703C>T (p.Arg235Ter)
|
rs121909363
|
0.00008
|
NM_000163.5(GHR):c.726G>C (p.Glu242Asp)
|
rs45588036
|
0.00006
|
NM_000163.5(GHR):c.184G>A (p.Glu62Lys)
|
rs121909361
|
0.00002
|
NM_000163.5(GHR):c.594A>G (p.Glu198=)
|
rs121909360
|
0.00002
|
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)
|
rs121909359
|
0.00001
|
NM_000163.5(GHR):c.446C>A (p.Pro149Gln)
|
rs121909365
|
0.00001
|
NM_000163.5(GHR):c.504T>G (p.His168Gln)
|
rs121909373
|
0.00001
|
NM_000163.5(GHR):c.508G>C (p.Asp170His)
|
rs121909366
|
0.00001
|
GHR, EX4,6DEL
|
|
|
NG_011688.2:g.(209254_?)_(210980_212428)del
|
|
|
NM_000163.5(GHR):c.102G>A (p.Trp34Ter)
|
rs121909370
|
|
NM_000163.5(GHR):c.1734del (p.Arg578fs)
|
|
|
NM_000163.5(GHR):c.181C>T (p.Arg61Ter)
|
rs121909358
|
|
NM_000163.5(GHR):c.192_193del (p.Ser65fs)
|
rs1194378231
|
|
NM_000163.5(GHR):c.266+1G>A
|
rs1009412984
|
|
NM_000163.5(GHR):c.303C>A (p.Cys101Ter)
|
rs121909371
|
|
NM_000163.5(GHR):c.335G>C (p.Cys112Ser)
|
rs121909372
|
|
NM_000163.5(GHR):c.341T>C (p.Phe114Ser)
|
rs121909357
|
|
NM_000163.5(GHR):c.484G>A (p.Val162Ile)
|
rs6413484
|
|
NM_000163.5(GHR):c.512T>C (p.Ile171Thr)
|
rs121909367
|
|
NM_000163.5(GHR):c.515A>C (p.Gln172Pro)
|
rs121909368
|
|
NM_000163.5(GHR):c.518T>G (p.Val173Gly)
|
rs121909369
|
|
NM_000163.5(GHR):c.618+792A>G
|
rs1011727375
|
|
NM_000163.5(GHR):c.619-1G>T
|
rs730880281
|
|
NM_000163.5(GHR):c.724G>T (p.Glu242Ter)
|
rs121909364
|
|
NM_000163.5(GHR):c.743_744del (p.Tyr248fs)
|
|
|
NM_000163.5(GHR):c.875G>C (p.Arg292Thr)
|
rs730880282
|
|
NM_000163.5(GHR):c.876-1G>C
|
rs730880308
|
|
NM_000163.5(GHR):c.945+1G>A
|
rs1579675001
|
|
NM_000163.5(GHR):c.981del (p.Ile328fs)
|
|
|
NP_000154.1:p.Ala442Serfs*27
|
|
|