NM_016592.5(GNAS):c.-52A>G
|
rs1800900
|
0.57843
|
NM_016592.5(GNAS):c.*42+54A>G
|
rs1800905
|
0.57266
|
NM_000516.7(GNAS):c.393C>T (p.Ile131=)
|
rs7121
|
0.56988
|
NM_080425.4(GNAS):c.2068+89C>G
|
rs73306256
|
0.43903
|
NM_000516.7(GNAS):c.432+93G>A
|
rs3730168
|
0.35717
|
NM_000516.7(GNAS):c.258-138A>T
|
rs2295583
|
0.30480
|
NM_000516.7(GNAS):c.531-132T>C
|
rs919196
|
0.21645
|
NM_000516.7(GNAS):c.432+287A>G
|
rs6026593
|
0.19311
|
NM_000516.7(GNAS):c.140-150G>A
|
rs3730164
|
0.15261
|
NM_000516.7(GNAS):c.840-72C>T
|
rs3730173
|
0.09640
|
NM_000516.7(GNAS):c.555C>T (p.Ile185=)
|
rs8620
|
0.08427
|
NM_080425.4(GNAS):c.2068+180A>T
|
rs75029190
|
0.08285
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_000516.7(GNAS):c.433-18T>C
|
rs3730170
|
0.07025
|
NM_016592.5(GNAS):c.-295C>G
|
rs61558260
|
0.06254
|
NM_016592.5(GNAS):c.*42+21C>T
|
rs1800904
|
0.06241
|
NM_000516.7(GNAS):c.1113C>T (p.Asn371=)
|
rs8386
|
0.06127
|
NM_016592.5(GNAS):c.*42+26G>A
|
rs41305799
|
0.02679
|
NM_000516.7(GNAS):c.433-71G>T
|
rs3730169
|
0.01978
|
NM_080425.4(GNAS):c.2068+169A>T
|
rs115850041
|
0.01763
|
NM_000516.7(GNAS):c.586-42G>A
|
rs1004902
|
0.01702
|
NM_000516.7(GNAS):c.257+159A>G
|
rs80350825
|
0.01632
|
NM_000516.7(GNAS):c.213-268C>T
|
rs76801208
|
0.01562
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_080425.4(GNAS):c.525T>C (p.Ser175=)
|
rs114255910
|
0.00782
|
NM_000516.7(GNAS):c.531-295C>G
|
rs147630997
|
0.00742
|
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly)
|
rs61749695
|
0.00734
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
NM_000516.7(GNAS):c.*136G>A
|
rs3730177
|
0.00553
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
NM_080425.4(GNAS):c.1399G>T (p.Ala467Ser)
|
rs56371919
|
0.00018
|
NM_080425.4(GNAS):c.2068+219A>G
|
rs756257959
|
0.00003
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser)
|
rs764065202
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_016592.5(GNAS):c.689C>T (p.Ser230Phe)
|
rs1455756498
|
0.00001
|
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)
|
rs1135401777
|
0.00001
|
NM_080425.4(GNAS):c.730C>T (p.Arg244Ter)
|
rs1446835451
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_000516.7(GNAS):c.-18GCC[8] (p.Met1_Gly2insAlaAla)
|
rs745433225
|
|
NM_000516.7(GNAS):c.-18_-16GCC[9]
|
rs745433225
|
|
NM_000516.7(GNAS):c.-4_2del (p.Met1del)
|
rs1085307719
|
|
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln)
|
rs2146300008
|
|
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr)
|
rs1944236486
|
|
NM_000516.7(GNAS):c.1039-127T>C
|
rs234628
|
|
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter)
|
rs2089386059
|
|
NM_000516.7(GNAS):c.1093del (p.Cys365fs)
|
rs1057518224
|
|
NM_000516.7(GNAS):c.1130A>C (p.Asn377Thr)
|
rs764065202
|
|
NM_000516.7(GNAS):c.1136G>A (p.Cys379Tyr)
|
rs1064795798
|
|
NM_000516.7(GNAS):c.1154G>A (p.Arg385His)
|
|
|
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys)
|
|
|
NM_000516.7(GNAS):c.125G>A (p.Arg42His)
|
rs1057520715
|
|
NM_000516.7(GNAS):c.139+2T>C
|
rs2145917348
|
|
NM_000516.7(GNAS):c.140-247_140-243del
|
rs148549965
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.1A>T (p.Met1Leu)
|
rs137854530
|
|
NM_000516.7(GNAS):c.257+1G>T
|
rs111541229
|
|
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr)
|
rs2146178601
|
|
NM_000516.7(GNAS):c.305C>T (p.Ala102Val)
|
rs1131691999
|
|
NM_000516.7(GNAS):c.319G>C (p.Val107Leu)
|
rs1057524389
|
|
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.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys)
|
rs2146184314
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000516.7(GNAS):c.432+2_432+15del
|
rs2146185615
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
|
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
NM_000516.7(GNAS):c.494G>A (p.Arg165His)
|
rs2090976265
|
|
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
|
|
|
NM_000516.7(GNAS):c.518_521del (p.Asp173fs)
|
rs2146211217
|
|
NM_000516.7(GNAS):c.526C>T (p.Gln176Ter)
|
rs1569020396
|
|
NM_000516.7(GNAS):c.531-269G>A
|
rs234629
|
|
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu)
|
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.568T>G (p.Tyr190Asp)
|
|
|
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
|
|
|
NM_000516.7(GNAS):c.569_570del (p.Tyr190fs)
|
|
|
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu)
|
rs2091273769
|
|
NM_000516.7(GNAS):c.580G>A (p.Asp194Asn)
|
rs2146265513
|
|
NM_000516.7(GNAS):c.585+55C>G
|
rs3730172
|
|
NM_000516.7(GNAS):c.586G>A (p.Asp196Asn)
|
|
|
NM_000516.7(GNAS):c.605T>C (p.Val202Ala)
|
|
|
NM_000516.7(GNAS):c.628A>G (p.Thr210Ala)
|
|
|
NM_000516.7(GNAS):c.647A>T (p.Lys216Ile)
|
|
|
NM_000516.7(GNAS):c.662T>C (p.Met221Thr)
|
rs2146277719
|
|
NM_000516.7(GNAS):c.677G>A (p.Gly226Asp)
|
rs2146278333
|
|
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.739G>A (p.Val247Met)
|
rs2146284622
|
|
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)
|
rs137854535
|
|
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln)
|
rs1555891584
|
|
NM_000516.7(GNAS):c.784C>T (p.Gln262Ter)
|
rs886039677
|
|
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser)
|
rs2146285468
|
|
NM_000516.7(GNAS):c.794G>A (p.Arg265His)
|
rs2146285582
|
|
NM_000516.7(GNAS):c.801_802dup (p.Glu268fs)
|
rs1601164303
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr)
|
rs2146291027
|
|
NM_000516.7(GNAS):c.891_905del (p.Glu299_Ala303del)
|
rs1555891728
|
|
NM_000516.7(GNAS):c.898A>T (p.Lys300Ter)
|
rs1555891743
|
|
NM_000516.7(GNAS):c.8G>C (p.Cys3Ser)
|
rs1064794045
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_000516.7(GNAS):c.971-2A>G
|
rs886039383
|
|
NM_000516.7(GNAS):c.97G>A (p.Asp33Asn)
|
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000516.7(GNAS):c.998G>A (p.Arg333His)
|
rs1418870137
|
|
NM_016592.5(GNAS):c.192_195del (p.Phe64fs)
|
|
|
NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del)
|
rs2145470921
|
|
NM_016592.5(GNAS):c.298T>C (p.Cys100Arg)
|
|
|
NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del)
|
|
|
NM_016592.5(GNAS):c.355dup (p.Ile119fs)
|
rs779115304
|
|
NM_016592.5(GNAS):c.356T>G (p.Ile119Ser)
|
rs2145471509
|
|
NM_016592.5(GNAS):c.367A>G (p.Thr123Ala)
|
rs1131691907
|
|
NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)
|
|
|
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu)
|
rs2145471865
|
|
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs)
|
|
|
NM_016592.5(GNAS):c.58dup (p.Leu20fs)
|
rs1220130891
|
|
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln)
|
|
|
NM_080425.4(GNAS):c.-106T>G
|
rs79335353
|
|
NM_080425.4(GNAS):c.1146C>T (p.Ala382=)
|
rs1448481528
|
|
NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu)
|
|
|
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg)
|
|
|
NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu)
|
|
|
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp)
|
rs1196950915
|
|
NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs)
|
|
|
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly)
|
|
|
NM_080425.4(GNAS):c.1686C>T (p.Arg562=)
|
|
|
NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys)
|
|
|
NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr)
|
|
|
NM_080425.4(GNAS):c.200C>T (p.Ala67Val)
|
|
|
NM_080425.4(GNAS):c.2068+160_2068+161insTT
|
rs142555685
|
|
NM_080425.4(GNAS):c.207A>G (p.Gly69=)
|
rs1281541744
|
|
NM_080425.4(GNAS):c.245del (p.Asn82fs)
|
|
|
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala)
|
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|
NM_080425.4(GNAS):c.780_786del (p.Ser261fs)
|
|
|
NM_080425.4(GNAS):c.890del (p.Gly297fs)
|
rs1391332013
|
|
NM_080425.4(GNAS):c.919C>G (p.Pro307Ala)
|
rs1057524198
|
|