NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)
|
rs146934810
|
0.00209
|
NM_019023.5(PRMT7):c.499G>A (p.Val167Met)
|
rs138763605
|
0.00007
|
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)
|
rs146383819
|
0.00006
|
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn)
|
rs755798109
|
0.00006
|
NM_019023.5(PRMT7):c.1726G>A (p.Glu576Lys)
|
rs377019678
|
0.00006
|
NM_024600.6(TMEM204):c.539C>T (p.Thr180Met)
|
rs369025963
|
0.00004
|
NM_019023.5(PRMT7):c.1078C>T (p.Arg360Cys)
|
rs775110866
|
0.00003
|
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys)
|
rs137853303
|
0.00002
|
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)
|
rs765839151
|
0.00001
|
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys)
|
rs1177674637
|
0.00001
|
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg)
|
rs763158372
|
0.00001
|
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu)
|
rs756985434
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:1557663-1561126)
|
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs)
|
rs2091380655
|
|
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)
|
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)
|
|
|
NM_002181.4(IHH):c.88C>A (p.Pro30Thr)
|
rs1574689457
|
|
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln)
|
rs746486900
|
|
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr)
|
rs1253034687
|
|
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)
|
|
|
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)
|
rs886041228
|
|
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)
|
|
|
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr)
|
rs1555814054
|
|
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)
|
|
|
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp)
|
rs2085773408
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser)
|
rs1812867470
|
|
NM_019023.5(PRMT7):c.282+3A>G
|
rs2082913032
|
|
NM_030957.4(ADAMTS10):c.2632G>A (p.Ala878Thr)
|
rs1197418432
|
|
NM_030957.4(ADAMTS10):c.3002G>A (p.Arg1001His)
|
rs2042408557
|
|
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu)
|
rs747636634
|
|