NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu)
|
rs201332059
|
0.00019
|
NM_000516.7(GNAS):c.585+6C>T
|
rs373084986
|
0.00009
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_000516.7(GNAS):c.108C>T (p.Val36=)
|
rs146581290
|
0.00004
|
NM_000516.7(GNAS):c.102G>A (p.Lys34=)
|
rs1177100316
|
0.00003
|
NM_080425.4(GNAS):c.2068+219A>G
|
rs756257959
|
0.00003
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_080425.4(GNAS):c.1352C>A (p.Ala451Asp)
|
rs1381864620
|
0.00002
|
NM_080425.4(GNAS):c.988A>G (p.Ile330Val)
|
rs201597085
|
0.00002
|
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser)
|
rs764065202
|
0.00001
|
NM_000516.7(GNAS):c.312+4C>T
|
rs371359864
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_016592.5(GNAS):c.477_514del (p.Thr160fs)
|
rs886042434
|
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
|
NC_000020.10:g.(?_57466782)_(57466940_?)dup
|
|
|
NM_000516.7(GNAS):c.-18_-16GCC[9]
|
rs745433225
|
|
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln)
|
rs2146300008
|
|
NM_000516.7(GNAS):c.1007G>C (p.Arg336Pro)
|
|
|
NM_000516.7(GNAS):c.1010C>A (p.Ala337Asp)
|
rs794727048
|
|
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr)
|
rs1944236486
|
|
NM_000516.7(GNAS):c.1038+3G>A
|
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|
NM_000516.7(GNAS):c.1079A>G (p.Tyr360Cys)
|
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|
NM_000516.7(GNAS):c.1093T>C (p.Cys365Arg)
|
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000516.7(GNAS):c.1100T>G (p.Val367Gly)
|
|
|
NM_000516.7(GNAS):c.1117del (p.Arg373fs)
|
rs2146306053
|
|
NM_000516.7(GNAS):c.1120C>T (p.Arg374Cys)
|
|
|
NM_000516.7(GNAS):c.1121G>A (p.Arg374His)
|
|
|
NM_000516.7(GNAS):c.1124T>C (p.Val375Ala)
|
rs1555892189
|
|
NM_000516.7(GNAS):c.1130A>C (p.Asn377Thr)
|
rs764065202
|
|
NM_000516.7(GNAS):c.1144A>T (p.Ile382Phe)
|
|
|
NM_000516.7(GNAS):c.1156A>G (p.Met386Val)
|
|
|
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys)
|
|
|
NM_000516.7(GNAS):c.121C>T (p.His41Tyr)
|
|
|
NM_000516.7(GNAS):c.139+3_139+4delinsGC
|
rs2145917462
|
|
NM_000516.7(GNAS):c.139+4A>C
|
|
|
NM_000516.7(GNAS):c.140-6T>A
|
|
|
NM_000516.7(GNAS):c.154G>C (p.Gly52Arg)
|
|
|
NM_000516.7(GNAS):c.166A>T (p.Ile56Phe)
|
|
|
NM_000516.7(GNAS):c.167T>C (p.Ile56Thr)
|
|
|
NM_000516.7(GNAS):c.178A>G (p.Met60Val)
|
rs2146005979
|
|
NM_000516.7(GNAS):c.198T>G (p.Asn66Lys)
|
|
|
NM_000516.7(GNAS):c.213-5A>G
|
rs763548893
|
|
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser)
|
rs587778380
|
|
NM_000516.7(GNAS):c.217G>T (p.Gly73Cys)
|
|
|
NM_000516.7(GNAS):c.220G>A (p.Glu74Lys)
|
|
|
NM_000516.7(GNAS):c.230C>T (p.Pro77Leu)
|
|
|
NM_000516.7(GNAS):c.257+4G>A
|
|
|
NM_000516.7(GNAS):c.26C>T (p.Thr9Ile)
|
|
|
NM_000516.7(GNAS):c.278A>G (p.Gln93Arg)
|
|
|
NM_000516.7(GNAS):c.301G>A (p.Glu101Lys)
|
rs2146178498
|
|
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.308T>C (p.Ile103Thr)
|
|
|
NM_000516.7(GNAS):c.312+7G>C
|
rs771111377
|
|
NM_000516.7(GNAS):c.318T>G (p.Ile106Met)
|
|
|
NM_000516.7(GNAS):c.319G>A (p.Val107Met)
|
rs1057524389
|
|
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.329T>C (p.Met110Thr)
|
rs2146182600
|
|
NM_000516.7(GNAS):c.332G>A (p.Ser111Asn)
|
|
|
NM_000516.7(GNAS):c.349G>A (p.Val117Met)
|
rs1555889031
|
|
NM_000516.7(GNAS):c.393_394delinsTT (p.Ile131_Leu132=)
|
|
|
NM_000516.7(GNAS):c.415G>A (p.Asp139Asn)
|
|
|
NM_000516.7(GNAS):c.432+3A>G
|
|
|
NM_000516.7(GNAS):c.437T>C (p.Phe146Ser)
|
|
|
NM_000516.7(GNAS):c.458T>A (p.Leu153Gln)
|
rs2146209100
|
|
NM_000516.7(GNAS):c.458T>G (p.Leu153Arg)
|
rs2146209100
|
|
NM_000516.7(GNAS):c.46G>A (p.Glu16Lys)
|
|
|
NM_000516.7(GNAS):c.476T>A (p.Val159Glu)
|
|
|
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
|
|
|
NM_000516.7(GNAS):c.499_501del (p.Asn167del)
|
rs2090976492
|
|
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
|
|
|
NM_000516.7(GNAS):c.524C>A (p.Ala175Asp)
|
|
|
NM_000516.7(GNAS):c.531-13_531-10del
|
rs576071932
|
|
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu)
|
|
|
NM_000516.7(GNAS):c.550G>A (p.Val184Met)
|
|
|
NM_000516.7(GNAS):c.551T>C (p.Val184Ala)
|
|
|
NM_000516.7(GNAS):c.568T>G (p.Tyr190Asp)
|
|
|
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
|
|
|
NM_000516.7(GNAS):c.574C>A (p.Pro192Thr)
|
|
|
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.586G>A (p.Asp196Asn)
|
|
|
NM_000516.7(GNAS):c.5G>T (p.Gly2Val)
|
|
|
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.651C>T (p.Val217=)
|
|
|
NM_000516.7(GNAS):c.654C>A (p.Asn218Lys)
|
|
|
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.695G>A (p.Arg232His)
|
|
|
NM_000516.7(GNAS):c.697A>G (p.Lys233Glu)
|
|
|
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys)
|
rs2091303526
|
|
NM_000516.7(GNAS):c.706C>A (p.Gln236Lys)
|
|
|
NM_000516.7(GNAS):c.717C>T (p.Asn239=)
|
|
|
NM_000516.7(GNAS):c.731T>A (p.Ile244Asn)
|
|
|
NM_000516.7(GNAS):c.739G>A (p.Val247Met)
|
rs2146284622
|
|
NM_000516.7(GNAS):c.756C>A (p.Ser252Arg)
|
rs2146284866
|
|
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)
|
rs137854535
|
|
NM_000516.7(GNAS):c.779A>G (p.Asp260Gly)
|
rs1569029610
|
|
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser)
|
rs2146285468
|
|
NM_000516.7(GNAS):c.840-3T>G
|
|
|
NM_000516.7(GNAS):c.848G>A (p.Arg283His)
|
|
|
NM_000516.7(GNAS):c.871C>T (p.Leu291Phe)
|
|
|
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr)
|
rs2146291027
|
|
NM_000516.7(GNAS):c.888_890del (p.Leu297del)
|
|
|
NM_000516.7(GNAS):c.889C>A (p.Leu297Ile)
|
|
|
NM_000516.7(GNAS):c.91_93del (p.Gln31del)
|
rs2145915963
|
|
NM_000516.7(GNAS):c.93G>C (p.Gln31His)
|
|
|
NM_000516.7(GNAS):c.952T>C (p.Tyr318His)
|
|
|
NM_000516.7(GNAS):c.976C>T (p.Pro326Ser)
|
rs2146299204
|
|
NM_000516.7(GNAS):c.97G>A (p.Asp33Asn)
|
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000516.7(GNAS):c.989A>G (p.Glu330Gly)
|
|
|
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.334G>C (p.Glu112Gln)
|
|
|
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.390_425del (p.Thr131_Glu142del)
|
rs778192531
|
|
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu)
|
rs2145471865
|
|
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs)
|
|
|
NM_016592.5(GNAS):c.4G>A (p.Asp2Asn)
|
|
|
NM_016592.5(GNAS):c.58dup (p.Leu20fs)
|
rs1220130891
|
|
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln)
|
|
|
NM_080425.4(GNAS):c.1058C>T (p.Pro353Leu)
|
|
|
NM_080425.4(GNAS):c.1092C>G (p.Ala364=)
|
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_080425.4(GNAS):c.1146C>T (p.Ala382=)
|
rs1448481528
|
|
NM_080425.4(GNAS):c.1150_1176dup (p.Ala392_Arg393insGlyAlaAlaSerAlaAspThrAlaAla)
|
rs1395514695
|
|
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.1431_1456del (p.Ala478fs)
|
|
|
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly)
|
|
|
NM_080425.4(GNAS):c.1594A>G (p.Ser532Gly)
|
|
|
NM_080425.4(GNAS):c.1642G>A (p.Ala548Thr)
|
rs760016801
|
|
NM_080425.4(GNAS):c.1680C>A (p.Gly560=)
|
rs1314612220
|
|
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.2069-5515A>C
|
|
|
NM_080425.4(GNAS):c.207A>G (p.Gly69=)
|
rs1281541744
|
|
NM_080425.4(GNAS):c.207A>T (p.Gly69=)
|
|
|
NM_080425.4(GNAS):c.245del (p.Asn82fs)
|
|
|
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala)
|
|
|
NM_080425.4(GNAS):c.416T>C (p.Met139Thr)
|
|
|
NM_080425.4(GNAS):c.422C>G (p.Pro141Arg)
|
rs942980796
|
|
NM_080425.4(GNAS):c.780_786del (p.Ser261fs)
|
|
|
NM_080425.4(GNAS):c.821C>T (p.Pro274Leu)
|
rs769524256
|
|
NM_080425.4(GNAS):c.919C>G (p.Pro307Ala)
|
rs1057524198
|
|
NM_080425.4(GNAS):c.955GAC[1] (p.Asp320del)
|
rs2145568472
|
|