NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_000516.7(GNAS):c.312+36C>T
|
rs200066108
|
0.00016
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
GNAS, IVS3AS, A-G, -12
|
|
|
NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu)
|
rs2107040144
|
|
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr)
|
rs2146305803
|
|
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs)
|
rs2091380655
|
|
NM_000516.7(GNAS):c.112del (p.Arg38fs)
|
rs2145916486
|
|
NM_000516.7(GNAS):c.119_139+17del
|
rs2145916749
|
|
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg)
|
rs1600976255
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.212+3_212+6del
|
rs2089974938
|
|
NM_000516.7(GNAS):c.254dup (p.Asp85fs)
|
rs2146079806
|
|
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter)
|
rs1601115202
|
|
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter)
|
rs1601115231
|
|
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro)
|
rs137854531
|
|
NM_000516.7(GNAS):c.302_303del (p.Glu101fs)
|
rs2146178462
|
|
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)
|
rs137854539
|
|
NM_000516.7(GNAS):c.348del (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
NM_000516.7(GNAS):c.530+1G>T
|
rs113029858
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.617_618del (p.Gly206fs)
|
rs2146271310
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.692G>A (p.Arg231His)
|
rs137854538
|
|
NM_000516.7(GNAS):c.725del (p.Thr242fs)
|
rs1601163749
|
|
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg)
|
rs137854534
|
|
NM_000516.7(GNAS):c.839+1G>C
|
rs1601164378
|
|
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
|
|
|
NM_080425.4(GNAS):c.754_761del (p.Ser252fs)
|
rs2086303843
|
|