NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
GNAS, GLN170ALA
|
|
|
GNAS, IVS3AS, A-G, -12
|
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln)
|
rs2146300461
|
|
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr)
|
rs2146304864
|
|
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg)
|
rs2146305127
|
|
NM_000516.7(GNAS):c.1067G>A (p.Arg356His)
|
rs2146305299
|
|
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.1115T>C (p.Ile372Thr)
|
rs2146305978
|
|
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
|
|
|
NM_000516.7(GNAS):c.112del (p.Arg38fs)
|
rs2145916486
|
|
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu)
|
rs2146306658
|
|
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg)
|
rs397514457
|
|
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter)
|
rs1254063262
|
|
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys)
|
rs397514456
|
|
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter)
|
rs397514456
|
|
NM_000516.7(GNAS):c.119_139+17del
|
rs2145916749
|
|
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser)
|
rs2145916888
|
|
NM_000516.7(GNAS):c.127C>G (p.Leu43Val)
|
rs2145916985
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
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.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.3G>T (p.Met1Ile)
|
rs2145914268
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000516.7(GNAS):c.432+1G>T
|
rs1555889131
|
|
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)
|
|
|
NM_000516.7(GNAS):c.460_461del (p.Trp154fs)
|
|
|
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro)
|
|
|
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter)
|
rs372290095
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter)
|
rs774895847
|
|
NM_000516.7(GNAS):c.530+1G>T
|
rs113029858
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys)
|
rs2146270332
|
|
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro)
|
rs1267396058
|
|
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly)
|
rs11554273
|
|
NM_000516.7(GNAS):c.602dup (p.Val202fs)
|
rs2146270735
|
|
NM_000516.7(GNAS):c.617_618del (p.Gly206fs)
|
rs2146271310
|
|
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)
|
rs121913494
|
|
NM_000516.7(GNAS):c.681G>C (p.Gln227His)
|
rs137854533
|
|
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)
|
rs2146278555
|
|
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.702G>C (p.Trp234Cys)
|
rs2091303526
|
|
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG
|
rs2146283488
|
|
NM_000516.7(GNAS):c.725del (p.Thr242fs)
|
rs1601163749
|
|
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg)
|
rs137854534
|
|
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)
|
rs137854535
|
|
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala)
|
rs137854536
|
|
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu)
|
rs1555891584
|
|
NM_000516.7(GNAS):c.794G>A (p.Arg265His)
|
rs2146285582
|
|
NM_000516.7(GNAS):c.839+1G>C
|
rs1601164378
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
|
|
|
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu)
|
rs2146292463
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|