NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_001199397.3(NEK1):c.695G>A (p.Arg232His)
|
rs772747361
|
0.00006
|
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)
|
rs776098853
|
0.00004
|
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)
|
rs377607698
|
0.00004
|
NM_018719.5(CDCA7L):c.*1246G>A
|
rs72658835
|
0.00004
|
NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)
|
rs1064797017
|
0.00001
|
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp)
|
rs770974455
|
0.00001
|
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)
|
rs747481280
|
0.00001
|
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)
|
rs905184241
|
0.00001
|
NM_000090.4(COL3A1):c.1178G>A (p.Gly393Asp)
|
rs1553507867
|
|
NM_000093.5(COL5A1):c.2504G>C (p.Gly835Ala)
|
rs1554799402
|
|
NM_000138.5(FBN1):c.1422T>G (p.Cys474Trp)
|
rs1555400378
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.2168-1G>T
|
rs1555399387
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)
|
rs397515808
|
|
NM_000138.5(FBN1):c.5917+6T>C
|
rs1555395742
|
|
NM_000138.5(FBN1):c.626G>A (p.Cys209Tyr)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)
|
rs1555393516
|
|
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser)
|
rs1553517181
|
|
NM_000454.5(SOD1):c.437C>A (p.Ala146Asp)
|
rs1131690781
|
|
NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln)
|
rs895824243
|
|
NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser)
|
rs1131690775
|
|
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg)
|
rs1275074212
|
|
NM_002474.3(MYH11):c.1A>G (p.Met1Val)
|
rs1555459260
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_004612.4(TGFBR1):c.974-2A>G
|
rs1554701881
|
|
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)
|
rs55824172
|
|
NM_053025.4(MYLK):c.2390+2T>C
|
rs1553808296
|
|
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro)
|
rs387906781
|
|