NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr)
|
rs121434358
|
0.00021
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)
|
rs387907192
|
0.00004
|
NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)
|
rs761886575
|
0.00003
|
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)
|
rs149170494
|
0.00003
|
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)
|
rs113994123
|
0.00002
|
NM_139057.4(ADAMTS17):c.1721+1G>A
|
rs749116256
|
0.00002
|
NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln)
|
rs387907064
|
0.00001
|
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)
|
rs762515973
|
0.00001
|
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg)
|
rs751670999
|
0.00001
|
NM_030957.4(ADAMTS10):c.810+1G>A
|
rs387906266
|
0.00001
|
GNAS, GLN170ALA
|
|
|
GNAS, IVS3AS, A-G, -12
|
|
|
NC_000016.9:g.68345747_68361056del
|
|
|
NM_000138.5(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del)
|
rs1555396783
|
|
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)
|
rs387906625
|
|
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)
|
rs387906622
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.5182G>A (p.Ala1728Thr)
|
rs387906624
|
|
NM_000138.5(FBN1):c.5202_5204dup (p.Gln1735dup)
|
rs587776863
|
|
NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg)
|
rs1131692052
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met)
|
rs137854856
|
|
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr)
|
rs2146305803
|
|
NM_000516.7(GNAS):c.112del (p.Arg38fs)
|
rs2145916486
|
|
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.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.254dup (p.Asp85fs)
|
rs2146079806
|
|
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.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.617_618del (p.Gly206fs)
|
rs2146271310
|
|
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.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.860_861del (p.Val287fs)
|
|
|
NM_001104631.2(PDE4D):c.1759A>C (p.Thr587Pro)
|
rs397514467
|
|
NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala)
|
rs387906744
|
|
NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp)
|
rs397514469
|
|
NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr)
|
rs587777188
|
|
NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala)
|
rs397514466
|
|
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr)
|
rs397514464
|
|
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser)
|
rs397514465
|
|
NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys)
|
rs397514465
|
|
NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu)
|
rs397514468
|
|
NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val)
|
rs397515433
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
NM_001130144.3(LTBP3):c.1846+5G>A
|
rs1188540819
|
|
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys)
|
rs1554974135
|
|
NM_001130144.3(LTBP3):c.3912A>T (p.Ter1304Cys)
|
rs1554971742
|
|
NM_002181.4(IHH):c.137C>T (p.Pro46Leu)
|
rs121917856
|
|
NM_002181.4(IHH):c.478C>T (p.Arg160Cys)
|
rs1948842030
|
|
NM_002181.4(IHH):c.569T>C (p.Val190Ala)
|
rs121917857
|
|
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro)
|
rs387906694
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His)
|
rs387906693
|
|
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr)
|
rs387906695
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)
|
rs281875320
|
|
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)
|
rs121908430
|
|
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)
|
rs121908431
|
|
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs)
|
rs2130444636
|
|
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs)
|
rs2130444402
|
|
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)
|
rs121908432
|
|
NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro)
|
rs121908433
|
|
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)
|
rs121908435
|
|
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)
|
rs121908436
|
|
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)
|
rs28939069
|
|
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)
|
rs28939070
|
|
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter)
|
rs121908434
|
|
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs)
|
rs2129748003
|
|
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg)
|
rs113994124
|
|
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)
|
rs113994125
|
|
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)
|
rs113994122
|
|
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)
|
rs113994121
|
|
NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys)
|
rs387907065
|
|
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)
|
rs1555486629
|
|
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)
|
rs587776909
|
|
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg)
|
rs431905520
|
|
NM_014714.4(IFT140):c.857_860del (p.Ile286fs)
|
rs431905506
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys)
|
rs387907193
|
|
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)
|
rs763953657
|
|
NM_019023.5(PRMT7):c.1276-1G>A
|
rs886039897
|
|
NM_030957.4(ADAMTS10):c.1190+1G>A
|
rs431825170
|
|
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp)
|
rs267606636
|
|
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys)
|
rs267606637
|
|
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter)
|
rs121434357
|
|
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter)
|
rs121434359
|
|
NM_139057.4(ADAMTS17):c.2456-1dup
|
rs387906291
|
|
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)
|
rs1555501030
|
|
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter)
|
rs267606638
|
|
NM_139057.4(ADAMTS17):c.873+1G>T
|
rs1160509052
|
|