NM_178138.6(LHX3):c.252-4G>T
|
rs372058376
|
0.00165
|
NM_000823.4(GHRHR):c.975-6C>A
|
rs117572522
|
0.00088
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)
|
rs202243828
|
0.00023
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_000515.5(GH1):c.246G>C (p.Glu82Asp)
|
rs61762497
|
0.00009
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_006261.5(PROP1):c.359G>A (p.Arg120His)
|
rs769171020
|
0.00004
|
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)
|
rs121917843
|
0.00003
|
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)
|
rs121917844
|
0.00003
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)
|
rs146918863
|
0.00002
|
NM_003865.3(HESX1):c.124C>T (p.His42Tyr)
|
rs761470587
|
0.00001
|
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)
|
rs140528998
|
0.00001
|
NM_006261.5(PROP1):c.218G>A (p.Arg73His)
|
rs121917842
|
0.00001
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
NM_006261.5(PROP1):c.63del (p.Leu22fs)
|
rs780134343
|
0.00001
|
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del)
|
rs1927166327
|
|
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu)
|
rs1907477324
|
|
NM_000515.5(GH1):c.302T>C (p.Leu101Pro)
|
rs1907452711
|
|
NM_000515.5(GH1):c.588G>A (p.Met196Ile)
|
rs1907385621
|
|
NM_006261.5(PROP1):c.109+1G>A
|
|
|
NM_006261.5(PROP1):c.109+1G>T
|
rs1214465435
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.129dup (p.Arg44fs)
|
rs2113064591
|
|
NM_006261.5(PROP1):c.156dup (p.Arg53fs)
|
rs1554182514
|
|
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
|
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006261.5(PROP1):c.310del (p.Arg104fs)
|
rs786204663
|
|
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)
|
rs1554182405
|
|
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
|
|
|
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
|
rs121917845
|
|
NM_006261.5(PROP1):c.611del (p.Gly204fs)
|
rs1554182368
|
|
NM_006261.5(PROP1):c.629del (p.Pro210fs)
|
rs761018422
|
|
NM_006261.5(PROP1):c.629dup (p.Pro211fs)
|
rs761018422
|
|
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)
|
|
|
NM_021728.4(OTX2):c.730G>A (p.Ala244Thr)
|
rs1594952158
|
|