NM_000516.7(GNAS):c.393C>T (p.Ile131=)
|
rs7121
|
0.57241
|
NM_080425.4(GNAS):c.1422C>T (p.Pro474=)
|
rs532475771
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp)
|
rs766854994
|
0.00003
|
GNAS, GLN170ALA
|
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
NM_000516.7(GNAS):c.1039-1G>A
|
rs2146304851
|
|
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
|
rs2517296553
|
|
NM_000516.7(GNAS):c.112del (p.Arg38fs)
|
rs2145916486
|
|
NM_000516.7(GNAS):c.119_139+17del
|
rs2145916749
|
|
NM_000516.7(GNAS):c.212+1_212+3del
|
rs2146006354
|
|
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn)
|
rs1569015549
|
|
NM_000516.7(GNAS):c.302_303del (p.Glu101fs)
|
rs2146178462
|
|
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)
|
rs2146182293
|
|
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr)
|
rs2090847079
|
|
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)
|
rs137854539
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)
|
rs2146183586
|
|
NM_000516.7(GNAS):c.3G>C (p.Met1Ile)
|
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
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.725del (p.Thr242fs)
|
rs1601163749
|
|
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg)
|
rs1272546759
|
|
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.839+1G>C
|
rs1601164378
|
|
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)
|
rs2146289639
|
|
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del)
|
rs2091331588
|
|
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter)
|
rs2085661524
|
|
NM_016592.5(GNAS):c.536C>T (p.Pro179Leu)
|
rs749569559
|
|
NM_080425.4(GNAS):c.1681_1682delinsTT (p.Arg561Phe)
|
rs2516392460
|
|
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu)
|
rs747636634
|
|
NM_080425.4(GNAS):c.285C>T (p.Ser95=)
|
rs370319235
|
|
NM_080425.4(GNAS):c.932T>C (p.Ile311Thr)
|
|
|