NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_014714.4(IFT140):c.4041-5G>A
|
rs754813435
|
0.00003
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)
|
rs113994123
|
0.00002
|
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)
|
rs1480715909
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)
|
rs372375423
|
0.00001
|
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)
|
rs397515802
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys)
|
rs913431428
|
|
NM_001130144.3(LTBP3):c.2893+1G>T
|
rs2135125210
|
|
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)
|
rs71036212
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
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_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del
|
|
|
NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs)
|
rs1554596430
|
|
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)
|
rs1554596393
|
|
NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter)
|
rs1554596391
|
|
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)
|
rs1554596328
|
|
NM_014112.5(TRPS1):c.1231dup (p.Gln411fs)
|
rs1554596300
|
|
NM_014112.5(TRPS1):c.1460del (p.Lys487fs)
|
rs1554596193
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)
|
rs121908431
|
|
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)
|
rs1554595930
|
|
NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter)
|
rs1554595857
|
|
NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs)
|
rs1554593099
|
|
NM_014112.5(TRPS1):c.2355_2356del (p.Lys786fs)
|
rs1554592995
|
|
NM_014112.5(TRPS1):c.2394dup (p.Ser799fs)
|
rs1554592981
|
|
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)
|
rs121908432
|
|
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr)
|
rs1554617581
|
|
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)
|
rs1554617580
|
|
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)
|
rs1554617573
|
|
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)
|
rs751565386
|
|
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)
|
rs121908435
|
|
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro)
|
rs121908435
|
|
NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs)
|
rs1554617567
|
|
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)
|
rs1057518972
|
|
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)
|
rs121908436
|
|
NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val)
|
rs1554617561
|
|
NM_014112.5(TRPS1):c.2823+1G>T
|
rs1554617549
|
|
NM_014112.5(TRPS1):c.2824-23T>G
|
rs752405769
|
|
NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs)
|
rs1554617078
|
|
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.2981_2984del (p.Glu994fs)
|
rs1554617011
|
|
NM_014112.5(TRPS1):c.3077del (p.Ser1026fs)
|
rs1554616971
|
|
NM_014112.5(TRPS1):c.3140del (p.Pro1047fs)
|
rs1554616950
|
|
NM_014112.5(TRPS1):c.3424del (p.Ser1142fs)
|
rs1554616802
|
|
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
|
|