NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu)
|
rs751985082
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter)
|
rs751270801
|
|
NM_000138.5(FBN1):c.1468G>C (p.Asp490His)
|
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)
|
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.1715-2A>G
|
rs2043733370
|
|
NM_000138.5(FBN1):c.1726T>C (p.Cys576Arg)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr)
|
rs2043732180
|
|
NM_000138.5(FBN1):c.1851T>G (p.Cys617Trp)
|
rs2141317460
|
|
NM_000138.5(FBN1):c.2090A>C (p.Gln697Pro)
|
rs769708437
|
|
NM_000138.5(FBN1):c.2168A>G (p.Asp723Gly)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)
|
rs1064794282
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr)
|
rs781682561
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.3127A>T (p.Lys1043Ter)
|
rs2141295258
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3337+2T>C
|
rs2141294575
|
|
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr)
|
rs878853682
|
|
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg)
|
rs2141273019
|
|
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser)
|
rs1064793115
|
|
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs)
|
rs1555396760
|
|
NM_000138.5(FBN1):c.5296+5G>A
|
rs1566902515
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
NM_000138.5(FBN1):c.5960G>A (p.Gly1987Asp)
|
rs2043140093
|
|
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser)
|
rs1060501054
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter)
|
rs113544411
|
|
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly)
|
rs111413134
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8074A>T (p.Met2692Leu)
|
rs2141211792
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8284G>A (p.Ala2762Thr)
|
rs2141210059
|
|
NM_000138.5(FBN1):c.867T>G (p.Ile289Met)
|
rs2141343481
|
|
NM_000138.5(FBN1):c.978del (p.Arg327fs)
|
rs1060501094
|
|
Single allele
|
|
|