NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)
|
rs920721092
|
0.00002
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg)
|
rs1206813753
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.347-2A>G
|
rs1555405056
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)
|
rs1060501079
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg)
|
rs2044026132
|
0.00001
|
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)
|
rs363804
|
0.00001
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)
|
rs1057520617
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)
|
rs112566465
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)
|
rs748934203
|
0.00001
|
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys)
|
rs1436552875
|
0.00001
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)
|
rs762643638
|
0.00001
|
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)
|
rs727504292
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
|
|
|
GRCh37/hg19 15q21.1(chr15:48720543-48730114)
|
|
|
GRCh37/hg19 15q21.1(chr15:48722868-48726910)
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48784783)
|
|
|
GRCh37/hg19 15q21.1(chr15:48725063-48892431)
|
|
|
GRCh37/hg19 15q21.1(chr15:48736739-48736857)
|
|
|
GRCh37/hg19 15q21.1(chr15:48777571-48791235)
|
|
|
GRCh37/hg19 15q21.1(chr15:48782048-48782275)
|
|
|
GRCh37/hg19 15q21.1(chr15:48789463-48791235)
|
|
|
NC_000001.10:g.(?_218578501)_(218610848_?)del
|
|
|
NC_000001.11:g.(?_218405159)_(218405342_?)dup
|
|
|
NC_000001.11:g.(?_218405159)_(218444629_?)del
|
|
|
NC_000001.11:g.(?_218435960)_(218437506_?)del
|
|
|
NC_000001.11:g.(?_218441194)_(218444629_?)del
|
|
|
NC_000014.8:g.(?_76425530)_(76432058_?)del
|
|
|
NC_000014.9:g.(?_75958692)_(75965705_?)del
|
|
|
NC_000014.9:g.(?_75958692)_(75971728_?)del
|
|
|
NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
|
|
|
NC_000015.10:g.(?_48410980)_(48411389_?)del
|
|
|
NC_000015.10:g.(?_48444521)_(48445524_?)del
|
|
|
NC_000015.10:g.(?_48470634)_(48470756_?)del
|
|
|
NC_000015.10:g.(?_48596273)_(48613102_?)dup
|
|
|
NC_000015.9:g.(?_48704746)_(48713023_?)dup
|
|
|
NC_000015.9:g.(?_48762825)_(48762959_?)del
|
|
|
NC_000015.9:g.(?_48812836)_(48905309_?)dup
|
|
|
NC_000015.9:g.(?_48888460)_(48905309_?)dup
|
|
|
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg)
|
rs587779715
|
|
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs)
|
rs1555398527
|
|
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)
|
rs1555396205
|
|
NM_000138.4(FBN1):c.7930delGins34 (p.?)
|
|
|
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg)
|
rs1555400612
|
|
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly)
|
rs1555400612
|
|
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr)
|
rs2141336245
|
|
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
|
|
|
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)
|
rs1555400606
|
|
NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg)
|
rs1555400604
|
|
NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr)
|
rs1555400603
|
|
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)
|
rs1555400601
|
|
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
|
|
|
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)
|
rs1555400595
|
|
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)
|
rs1555400595
|
|
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)
|
rs886039066
|
|
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
|
|
|
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)
|
rs1597583989
|
|
NM_000138.5(FBN1):c.1147+2T>A
|
rs2141335915
|
|
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del)
|
rs672601352
|
|
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter)
|
rs746201757
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser)
|
rs1597581005
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1391del (p.Arg464fs)
|
rs1555400385
|
|
NM_000138.5(FBN1):c.1402A>G (p.Thr468Ala)
|
rs2043792730
|
|
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly)
|
rs1555400380
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly)
|
rs2043778680
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg)
|
rs1555400288
|
|
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys)
|
rs1060501073
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)
|
rs1060501036
|
|
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs)
|
rs397515758
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.1588+1G>A
|
rs2141327634
|
|
NM_000138.5(FBN1):c.1589-1217G>T
|
|
|
NM_000138.5(FBN1):c.1589-14A>G
|
rs1566915335
|
|
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr)
|
rs397515759
|
|
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
|
|
|
NM_000138.5(FBN1):c.1617del (p.Ile540fs)
|
rs1555400066
|
|
NM_000138.5(FBN1):c.1622G>T (p.Cys541Phe)
|
rs1555400064
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro)
|
rs193922179
|
|
NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg)
|
rs1555400062
|
|
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
|
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1G>T
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1del
|
rs1555407399
|
|
NM_000138.5(FBN1):c.164+2T>C
|
rs727503058
|
|
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu)
|
rs2140787387
|
|
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)
|
rs794728172
|
|
NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp)
|
rs531101773
|
|
NM_000138.5(FBN1):c.1669T>C (p.Cys557Arg)
|
rs2141323348
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)
|
rs1057521102
|
|
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp)
|
rs2141323336
|
|
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.1714+1G>T
|
rs2043745437
|
|
NM_000138.5(FBN1):c.1714+2T>C
|
rs2141323212
|
|
NM_000138.5(FBN1):c.1714+2del
|
rs876657645
|
|
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)
|
rs1555399974
|
|
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
|
|
|
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs)
|
rs869025420
|
|
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr)
|
rs2141321627
|
|
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg)
|
rs1085307528
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe)
|
rs1555405673
|
|
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp)
|
rs1555399959
|
|
NM_000138.5(FBN1):c.1793G>A (p.Cys598Tyr)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1823del (p.Gly608fs)
|
rs1555399949
|
|
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)
|
rs1555399944
|
|
NM_000138.5(FBN1):c.1836_1837+2delinsGGG
|
rs2043731288
|
|
NM_000138.5(FBN1):c.1837+1G>T
|
rs397515762
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1838-1G>A
|
rs1555399840
|
|
NM_000138.5(FBN1):c.1843_1845del (p.Asn615del)
|
rs1555399837
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
|
|
|
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del)
|
rs2141317465
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
|
|
|
NM_000138.5(FBN1):c.1888A>C (p.Asn630His)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro)
|
rs2043697314
|
|
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro)
|
rs1566914005
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)
|
rs869025404
|
|
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu)
|
rs2043696899
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1948dup (p.Arg650fs)
|
rs1566913982
|
|
NM_000138.5(FBN1):c.1960+2T>C
|
rs1555399802
|
|
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
|
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly)
|
rs1597574308
|
|
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs)
|
rs1555399775
|
|
NM_000138.5(FBN1):c.197A>G (p.Tyr66Cys)
|
rs774371494
|
|
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr)
|
rs1060501086
|
|
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)
|
rs2140737496
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
NM_000138.5(FBN1):c.201_203dup (p.Cys68dup)
|
rs1555405664
|
|
NM_000138.5(FBN1):c.202T>C (p.Cys68Arg)
|
rs113604459
|
|
NM_000138.5(FBN1):c.2034_2052del (p.Thr679fs)
|
|
|
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr)
|
rs1597633163
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2051G>C (p.Cys684Ser)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg)
|
rs1597574236
|
|
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr)
|
rs1555399761
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter)
|
rs1060501024
|
|
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly)
|
rs2141315718
|
|
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe)
|
rs1566913685
|
|
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser)
|
rs2043684108
|
|
NM_000138.5(FBN1):c.2113+2T>C
|
rs730880105
|
|
NM_000138.5(FBN1):c.2118_2127del (p.Glu706fs)
|
rs1555399482
|
|
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu)
|
rs794728185
|
|
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr)
|
rs1555399477
|
|
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2176del (p.Glu726fs)
|
rs1555399385
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)
|
rs2141306513
|
|
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr)
|
rs794728187
|
|
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)
|
rs1555399378
|
|
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
|
|
|
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
|
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)
|
rs1555399368
|
|
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp)
|
rs181311020
|
|
NM_000138.5(FBN1):c.2294-1G>C
|
|
|
NM_000138.5(FBN1):c.2294-2A>G
|
|
|
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs)
|
rs1555399281
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg)
|
rs1060501022
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
|
|
|
NM_000138.5(FBN1):c.2342del (p.Cys781fs)
|
|
|
NM_000138.5(FBN1):c.2354C>A (p.Pro785His)
|
rs956678986
|
|
NM_000138.5(FBN1):c.2364dup (p.Val789fs)
|
|
|
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser)
|
rs1555399270
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)
|
rs2141305039
|
|
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)
|
rs111764111
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.23_34del (p.Glu8_Leu11del)
|
|
|
NM_000138.5(FBN1):c.2419+1G>A
|
rs1555399257
|
|
NM_000138.5(FBN1):c.2420-1G>T
|
rs1555399214
|
|
NM_000138.5(FBN1):c.2420-2A>G
|
rs1060501052
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser)
|
rs397515770
|
|
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp)
|
rs397515771
|
|
NM_000138.5(FBN1):c.2467_2468insG (p.Asn823fs)
|
rs1555399204
|
|
NM_000138.5(FBN1):c.247+2dup
|
rs397515772
|
|
NM_000138.5(FBN1):c.247+3A>C
|
rs201854371
|
|
NM_000138.5(FBN1):c.2474del (p.Pro825fs)
|
rs1555399202
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.248-3C>G
|
rs1555405537
|
|
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly)
|
rs397515773
|
|
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser)
|
rs397515774
|
|
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)
|
rs397515775
|
|
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)
|
rs397515776
|
|
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del)
|
rs1555399195
|
|
NM_000138.5(FBN1):c.2529del (p.Ile844fs)
|
rs1555399193
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.2558G>A (p.Cys853Tyr)
|
|
|
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)
|
rs2043596204
|
|
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser)
|
rs1597568968
|
|
NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys)
|
rs1555399164
|
|
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter)
|
rs1057519502
|
|
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)
|
rs1555399162
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2627G>T (p.Cys876Phe)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2631del (p.Ser878fs)
|
rs2141303607
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
|
|
|
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val)
|
rs886038953
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2657_2671del (p.Pro886_Cys890del)
|
rs2141303486
|
|
NM_000138.5(FBN1):c.2659T>C (p.Cys887Arg)
|
rs2141303537
|
|
NM_000138.5(FBN1):c.265T>C (p.Cys89Arg)
|
rs1555405533
|
|
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)
|
rs2043594601
|
|
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)
|
rs1555399144
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2673A>G (p.Gln891=)
|
rs1555399143
|
|
NM_000138.5(FBN1):c.2677+1G>A
|
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-2A>G
|
rs1555399101
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
|
|
|
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs)
|
rs397515778
|
|
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter)
|
rs397515779
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs)
|
rs1555399093
|
|
NM_000138.5(FBN1):c.2714del (p.Gly905fs)
|
rs1555399089
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2728+1G>C
|
rs794728322
|
|
NM_000138.5(FBN1):c.2728_2728+1delinsAA
|
rs1566911331
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys)
|
rs1555398996
|
|
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala)
|
rs1555398995
|
|
NM_000138.5(FBN1):c.2738A>G (p.Glu913Gly)
|
rs1555398995
|
|
NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr)
|
rs2141300503
|
|
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg)
|
rs2140734026
|
|
NM_000138.5(FBN1):c.2764_2780del (p.Cys921_Lys922insTer)
|
rs1555398988
|
|
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
|
|
|
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis)
|
rs1555398981
|
|
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)
|
rs730880098
|
|
NM_000138.5(FBN1):c.2830del (p.Asp944fs)
|
|
|
NM_000138.5(FBN1):c.2833del (p.Ala945fs)
|
rs397515781
|
|
NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.2854G>C (p.Asp952His)
|
rs2141300251
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.2855-2A>G
|
rs2141297577
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser)
|
rs1555398834
|
|
NM_000138.5(FBN1):c.2884_2890del (p.Tyr962fs)
|
rs1555398833
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2913del (p.Ile971fs)
|
rs1555398826
|
|
NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr)
|
rs727505110
|
|
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser)
|
rs727505110
|
|
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
|
|
|
NM_000138.5(FBN1):c.2948_2970del (p.Cys982_Ser983insTer)
|
rs1555398811
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter)
|
rs1555398803
|
|
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg)
|
rs1597631662
|
|
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr)
|
rs397515782
|
|
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe)
|
rs397515782
|
|
NM_000138.5(FBN1):c.2T>C (p.Met1Thr)
|
rs886041536
|
|
NM_000138.5(FBN1):c.3007G>T (p.Glu1003Ter)
|
|
|
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg)
|
rs1555398793
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)
|
rs1566937712
|
|
NM_000138.5(FBN1):c.305G>A (p.Cys102Tyr)
|
rs794728292
|
|
NM_000138.5(FBN1):c.305G>C (p.Cys102Ser)
|
rs794728292
|
|
NM_000138.5(FBN1):c.3083-1G>C
|
rs2141295345
|
|
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly)
|
rs1131691317
|
|
NM_000138.5(FBN1):c.3115T>C (p.Cys1039Arg)
|
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3126del (p.Lys1043fs)
|
|
|
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)
|
rs730880100
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr)
|
rs1555398673
|
|
NM_000138.5(FBN1):c.3144del (p.Ile1048fs)
|
rs1555398672
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3157T>A (p.Cys1053Ser)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.3165T>G (p.Cys1055Trp)
|
rs1060501040
|
|
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)
|
rs886039208
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr)
|
rs1555398659
|
|
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser)
|
rs1555398659
|
|
NM_000138.5(FBN1):c.3209-1G>C
|
rs886038956
|
|
NM_000138.5(FBN1):c.3209-2A>C
|
rs2043526284
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
NM_000138.5(FBN1):c.320_321del (p.Ile107fs)
|
rs730880108
|
|
NM_000138.5(FBN1):c.3214G>C (p.Asp1072His)
|
rs778867355
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg)
|
rs112553035
|
|
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)
|
rs1555398633
|
|
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp)
|
rs2141294717
|
|
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu)
|
rs1566909798
|
|
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr)
|
rs1597563934
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)
|
rs112547596
|
|
NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val)
|
rs112547596
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.32_42del (p.Leu11fs)
|
rs397515785
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3320_3323dup (p.Met1108fs)
|
rs1555398622
|
|
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly)
|
rs2141294587
|
|
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
|
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3337+1dup
|
rs1566909762
|
|
NM_000138.5(FBN1):c.3338-2A>G
|
rs2141293812
|
|
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)
|
rs140597
|
|
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
|
|
|
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys)
|
rs1555398582
|
|
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly)
|
rs1566909547
|
|
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser)
|
rs2141293726
|
|
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)
|
rs137854468
|
|
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp)
|
rs1064794882
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser)
|
rs397515790
|
|
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys)
|
rs775565475
|
|
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs)
|
rs1555398566
|
|
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg)
|
rs1131691806
|
|
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr)
|
rs1060501075
|
|
NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe)
|
rs1060501075
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.3444del (p.Asn1149fs)
|
rs1555398551
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly)
|
rs2141293332
|
|
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
|
|
|
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)
|
rs794728205
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr)
|
rs2043515038
|
|
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
|
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr)
|
rs1555398521
|
|
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr)
|
rs1555398520
|
|
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)
|
rs1555398515
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter)
|
rs1555398510
|
|
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg)
|
rs2044551443
|
|
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
|
|
|
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly)
|
rs2141293091
|
|
NM_000138.5(FBN1):c.3589+1del
|
|
|
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3590-2A>G
|
rs2043498977
|
|
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly)
|
rs112025387
|
|
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly)
|
rs794728206
|
|
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)
|
rs1566908956
|
|
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr)
|
rs1555398413
|
|
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
|
|
|
NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg)
|
rs1555398411
|
|
NM_000138.5(FBN1):c.3617G>A (p.Gly1206Asp)
|
rs1555398409
|
|
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
|
|
|
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)
|
rs1555398406
|
|
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
|
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg)
|
rs2043497933
|
|
NM_000138.5(FBN1):c.3635G>A (p.Cys1212Tyr)
|
rs1057522908
|
|
NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs)
|
rs2141291345
|
|
NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser)
|
rs1555398401
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser)
|
rs2141291310
|
|
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)
|
rs1555398387
|
|
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg)
|
rs1555398380
|
|
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly)
|
rs1555398380
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
|
|
|
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly)
|
rs2043485666
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000138.5(FBN1):c.3726T>G (p.Cys1242Trp)
|
|
|
NM_000138.5(FBN1):c.3759del (p.Gln1253fs)
|
rs1555398287
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer)
|
rs1555398282
|
|
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)
|
rs1555398279
|
|
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn)
|
rs794728210
|
|
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val)
|
rs1555398179
|
|
NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys)
|
rs1555398176
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg)
|
rs397515797
|
|
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
|
|
|
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)
|
rs869025425
|
|
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
|
|
|
NM_000138.5(FBN1):c.390del (p.Ser130fs)
|
rs1555405045
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
NM_000138.5(FBN1):c.3921T>G (p.Cys1307Trp)
|
rs2043466446
|
|
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
|
|
|
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys)
|
rs2043466325
|
|
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys)
|
rs1555398148
|
|
NM_000138.5(FBN1):c.3945del (p.Gly1316fs)
|
rs1555398144
|
|
NM_000138.5(FBN1):c.3947_3948delinsT (p.Gly1316fs)
|
rs1555398139
|
|
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly)
|
rs1555397744
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)
|
rs1555397738
|
|
NM_000138.5(FBN1):c.3993del (p.His1331fs)
|
rs1555397736
|
|
NM_000138.5(FBN1):c.4007_4010del (p.His1336fs)
|
|
|
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)
|
rs1555405044
|
|
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr)
|
rs397515798
|
|
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs)
|
rs1555397723
|
|
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4056del (p.Trp1354fs)
|
rs1555397713
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.406T>A (p.Cys136Ser)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>C (p.Cys136Arg)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)
|
rs1566906506
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
NM_000138.5(FBN1):c.4085C>G (p.Thr1362Ser)
|
|
|
NM_000138.5(FBN1):c.4087+5G>A
|
rs1555397692
|
|
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
|
|
|
NM_000138.5(FBN1):c.4088-2A>G
|
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser)
|
rs1555397670
|
|
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)
|
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys)
|
rs397515801
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)
|
rs1597553721
|
|
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)
|
|
|
NM_000138.5(FBN1):c.4197del (p.Phe1400fs)
|
rs869025421
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn)
|
rs794728220
|
|
NM_000138.5(FBN1):c.4211-2A>G
|
|
|
NM_000138.5(FBN1):c.4211A>G (p.Asp1404Gly)
|
|
|
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly)
|
rs2043386794
|
|
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)
|
rs397515802
|
|
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)
|
rs1555397557
|
|
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)
|
rs1555397556
|
|
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del)
|
rs397515803
|
|
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)
|
rs397515804
|
|
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)
|
rs1555397548
|
|
NM_000138.5(FBN1):c.4287_4288del (p.Cys1429_Glu1430delinsTer)
|
rs1555397542
|
|
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)
|
rs1555397540
|
|
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4301_4302insAG (p.Phe1435fs)
|
rs1555397536
|
|
NM_000138.5(FBN1):c.4301del (p.Gly1434fs)
|
rs1555397537
|
|
NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)
|
rs886038940
|
|
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)
|
rs794728221
|
|
NM_000138.5(FBN1):c.4337-1G>A
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4337-1G>T
|
rs1555397424
|
|
NM_000138.5(FBN1):c.4337-2A>G
|
rs794728216
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.4346_4349dup (p.Cys1450Ter)
|
rs1555397420
|
|
NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser)
|
rs1555397421
|
|
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe)
|
rs1555397419
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe)
|
rs397515805
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)
|
rs397515808
|
|
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)
|
rs1555397404
|
|
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)
|
rs1555397403
|
|
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)
|
rs730880101
|
|
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr)
|
rs111978932
|
|
NM_000138.5(FBN1):c.4459+2T>G
|
rs1555397393
|
|
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
NM_000138.5(FBN1):c.4460-1G>C
|
rs113082854
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4474del (p.Leu1492fs)
|
rs1555397214
|
|
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser)
|
rs1555397213
|
|
NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp)
|
rs2043341481
|
|
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)
|
|
|
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)
|
rs397515810
|
|
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr)
|
rs1555397211
|
|
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
|
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu)
|
rs2141272892
|
|
NM_000138.5(FBN1):c.4579_4580del (p.Cys1526_Val1527insTer)
|
rs1555397197
|
|
NM_000138.5(FBN1):c.4582+1G>A
|
rs1555397195
|
|
NM_000138.5(FBN1):c.4583-1G>A
|
rs1555397176
|
|
NM_000138.5(FBN1):c.4583-5A>G
|
rs778966916
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro)
|
rs778710767
|
|
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
|
|
|
NM_000138.5(FBN1):c.458del (p.Gly153fs)
|
|
|
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp)
|
rs1555397174
|
|
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
|
|
|
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)
|
|
|
NM_000138.5(FBN1):c.4629del (p.Asp1543fs)
|
rs2043337738
|
|
NM_000138.5(FBN1):c.4649del (p.Ser1550fs)
|
rs1597548716
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe)
|
rs2141272349
|
|
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)
|
rs1597548672
|
|
NM_000138.5(FBN1):c.4700del (p.Gly1567fs)
|
rs1566904526
|
|
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
|
|
|
NM_000138.5(FBN1):c.4741_4747+7del
|
|
|
NM_000138.5(FBN1):c.4747+1G>A
|
rs2141272220
|
|
NM_000138.5(FBN1):c.4747+3A>T
|
rs1555397145
|
|
NM_000138.5(FBN1):c.4747+5G>T
|
rs193922209
|
|
NM_000138.5(FBN1):c.4748-1G>A
|
rs2141270027
|
|
NM_000138.5(FBN1):c.4748-2A>G
|
rs2141270032
|
|
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)
|
rs1555397024
|
|
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp)
|
rs267606798
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg)
|
rs1057518973
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4817-2A>G
|
rs1555397008
|
|
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del)
|
rs2141269721
|
|
NM_000138.5(FBN1):c.488del (p.Pro163fs)
|
rs1555404806
|
|
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser)
|
rs1555396998
|
|
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
|
|
|
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr)
|
rs397515814
|
|
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)
|
rs397515814
|
|
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4943-1G>A
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4943-1G>C
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)
|
rs363852
|
|
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser)
|
rs397515818
|
|
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)
|
rs1555396853
|
|
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del)
|
rs2141267678
|
|
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)
|
rs869025426
|
|
NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg)
|
rs1555396844
|
|
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)
|
rs1555404803
|
|
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp)
|
rs200295020
|
|
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
|
|
|
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
|
|
|
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)
|
rs1555396838
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5065+1G>T
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5066-9_5086dup
|
rs1566903283
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)
|
rs1597545345
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer)
|
rs1597623670
|
|
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr)
|
rs1555396769
|
|
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg)
|
rs1597545230
|
|
NM_000138.5(FBN1):c.5179del (p.Arg1727fs)
|
rs1555396765
|
|
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr)
|
rs1060501070
|
|
NM_000138.5(FBN1):c.5225-2A>C
|
rs1555396639
|
|
NM_000138.5(FBN1):c.5225-2A>G
|
|
|
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter)
|
rs397515820
|
|
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
|
|
|
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
|
|
|
NM_000138.5(FBN1):c.5267T>C (p.Val1756Ala)
|
|
|
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
|
|
|
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)
|
rs730880103
|
|
NM_000138.5(FBN1):c.5296+1G>C
|
rs1555396630
|
|
NM_000138.5(FBN1):c.5296+6T>C
|
rs1555396629
|
|
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg)
|
rs363853
|
|
NM_000138.5(FBN1):c.52del (p.Ala18fs)
|
rs1555407423
|
|
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)
|
rs2043241537
|
|
NM_000138.5(FBN1):c.531dup (p.Glu178Ter)
|
rs1555404800
|
|
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg)
|
rs1597540907
|
|
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr)
|
rs1060501069
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5369G>C (p.Arg1790Pro)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg)
|
rs1555396419
|
|
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)
|
rs1555396419
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
NM_000138.5(FBN1):c.5422+1del
|
rs2141260277
|
|
NM_000138.5(FBN1):c.5422_5422+1delinsTT
|
rs1566901570
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly)
|
rs2141256116
|
|
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr)
|
rs1555396213
|
|
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter)
|
rs397515821
|
|
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
|
|
|
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)
|
rs1597537835
|
|
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr)
|
rs1597537815
|
|
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter)
|
rs1555396199
|
|
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg)
|
rs1555396198
|
|
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg)
|
rs1555396186
|
|
NM_000138.5(FBN1):c.5545+1G>A
|
rs1260109901
|
|
NM_000138.5(FBN1):c.5545+1del
|
rs1566900469
|
|
NM_000138.5(FBN1):c.5545+2T>C
|
rs2043209059
|
|
NM_000138.5(FBN1):c.5546-1G>A
|
rs1566899590
|
|
NM_000138.5(FBN1):c.554_556del (p.Pro185_Cys186delinsArg)
|
rs1555401701
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
|
|
|
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)
|
rs1555395989
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg)
|
rs1555395984
|
|
NM_000138.5(FBN1):c.561del (p.Phe187fs)
|
rs397515825
|
|
NM_000138.5(FBN1):c.5621G>T (p.Cys1874Phe)
|
rs2141252159
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp)
|
rs2141252143
|
|
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr)
|
rs1566899500
|
|
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn)
|
rs193922216
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
|
|
|
NM_000138.5(FBN1):c.5672-1G>A
|
rs1555395849
|
|
NM_000138.5(FBN1):c.5672-2A>T
|
|
|
NM_000138.5(FBN1):c.5672-87A>G
|
rs1060501029
|
|
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser)
|
rs1597533707
|
|
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys)
|
rs1597533706
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)
|
rs794728237
|
|
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)
|
rs193922218
|
|
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp)
|
rs397515824
|
|
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser)
|
rs1060501087
|
|
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys)
|
rs397515826
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys)
|
rs1597533619
|
|
NM_000138.5(FBN1):c.5734_5736del (p.Phe1912del)
|
|
|
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly)
|
rs2141250333
|
|
NM_000138.5(FBN1):c.5741G>A (p.Cys1914Tyr)
|
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)
|
rs397515827
|
|
NM_000138.5(FBN1):c.577del (p.Gln193fs)
|
rs1555401697
|
|
NM_000138.5(FBN1):c.5788+1G>T
|
rs1555395819
|
|
NM_000138.5(FBN1):c.5788+2T>C
|
rs1555395818
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5789-1G>A
|
rs2043152080
|
|
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser)
|
rs1555395767
|
|
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)
|
rs1555395767
|
|
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr)
|
rs794728241
|
|
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr)
|
rs397515828
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs)
|
rs1555395757
|
|
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)
|
rs730880104
|
|
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
|
|
|
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
|
|
|
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)
|
rs397515829
|
|
NM_000138.5(FBN1):c.5888del (p.Glu1963fs)
|
rs727504315
|
|
NM_000138.5(FBN1):c.590del (p.Gly197fs)
|
rs1555401695
|
|
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
NM_000138.5(FBN1):c.5917+1G>T
|
rs363808
|
|
NM_000138.5(FBN1):c.5917+1_5917+11del
|
rs2141249066
|
|
NM_000138.5(FBN1):c.5918-2A>G
|
rs869025418
|
|
NM_000138.5(FBN1):c.5919dup (p.Ile1974fs)
|
rs1555395670
|
|
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
|
|
|
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser)
|
rs2141248174
|
|
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr)
|
rs1555395663
|
|
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)
|
rs1555395659
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
|
|
|
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
|
|
|
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser)
|
rs2043139988
|
|
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly)
|
rs2043139988
|
|
NM_000138.5(FBN1):c.5966G>C (p.Cys1989Ser)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5993G>T (p.Cys1998Phe)
|
rs1085307531
|
|
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr)
|
rs1555395645
|
|
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)
|
rs1057519320
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
|
|
|
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter)
|
rs1555395641
|
|
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His)
|
rs1555395638
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs)
|
rs1597529829
|
|
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)
|
rs1566897404
|
|
NM_000138.5(FBN1):c.6080del (p.Gly2027fs)
|
rs1555395480
|
|
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr)
|
rs1057517855
|
|
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp)
|
rs1555395475
|
|
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser)
|
rs363804
|
|
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg)
|
rs1597529748
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6163+1G>A
|
rs1566897374
|
|
NM_000138.5(FBN1):c.6163+1_6163+2del
|
|
|
NM_000138.5(FBN1):c.6164-1G>C
|
rs1060501048
|
|
NM_000138.5(FBN1):c.6164-2A>G
|
rs794728244
|
|
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg)
|
rs1555395267
|
|
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)
|
rs71467648
|
|
NM_000138.5(FBN1):c.619dup (p.Thr207fs)
|
rs1555401689
|
|
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
|
|
|
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe)
|
rs1060501044
|
|
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys)
|
rs1555395263
|
|
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter)
|
rs1052480459
|
|
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser)
|
rs2141241499
|
|
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr)
|
rs794728245
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)
|
rs878853687
|
|
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg)
|
rs794728246
|
|
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter)
|
rs397515831
|
|
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)
|
rs1085307468
|
|
NM_000138.5(FBN1):c.6313+2T>C
|
rs1555395257
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6313_6313+1delinsAC
|
|
|
NM_000138.5(FBN1):c.6314-3del
|
rs2141240967
|
|
NM_000138.5(FBN1):c.6314-7_6322del
|
rs2141240946
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr)
|
rs1131691467
|
|
NM_000138.5(FBN1):c.6340G>T (p.Gly2114Ter)
|
|
|
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)
|
rs1597593736
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
NM_000138.5(FBN1):c.6373_6379+1dup
|
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
NM_000138.5(FBN1):c.6379+2T>C
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+2T>G
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+5G>A
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
NM_000138.5(FBN1):c.6380-2A>C
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380-2A>G
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380A>G (p.Asp2127Gly)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)
|
rs1566896114
|
|
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val)
|
rs1566896114
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6414del (p.Lys2138fs)
|
rs1555395205
|
|
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu)
|
rs1064793118
|
|
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser)
|
rs1555395203
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His)
|
rs886038943
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)
|
rs1597525958
|
|
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
|
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6483_6496+1del
|
rs2141240279
|
|
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly)
|
rs2141240296
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496+1G>A
|
rs1555395188
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6497-1G>A
|
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly)
|
rs1555395015
|
|
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
|
|
|
NM_000138.5(FBN1):c.6505G>T (p.Glu2169Ter)
|
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr)
|
rs363821
|
|
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs)
|
rs397515834
|
|
NM_000138.5(FBN1):c.6524del (p.Pro2175fs)
|
rs1555395013
|
|
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
|
|
|
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp)
|
rs2141237128
|
|
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)
|
|
|
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser)
|
rs1566895263
|
|
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
|
|
|
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
|
|
|
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
|
|
|
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)
|
rs1566895262
|
|
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr)
|
rs2043050838
|
|
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)
|
rs369058466
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)
|
rs1555395001
|
|
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
|
|
|
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe)
|
rs886039158
|
|
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
|
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+1G>T
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)
|
rs1555394999
|
|
NM_000138.5(FBN1):c.6617-1G>C
|
rs2141235271
|
|
NM_000138.5(FBN1):c.6617-2A>C
|
rs1597522588
|
|
NM_000138.5(FBN1):c.6617-2A>G
|
|
|
NM_000138.5(FBN1):c.6617-9_6617-8inv
|
|
|
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser)
|
rs794728253
|
|
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp)
|
rs397515836
|
|
NM_000138.5(FBN1):c.6645del (p.Leu2216fs)
|
rs1555394928
|
|
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser)
|
rs397515837
|
|
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs)
|
rs1555394925
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6670dup (p.Thr2224fs)
|
|
|
NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg)
|
rs1555394906
|
|
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr)
|
rs1555394904
|
|
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
|
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His)
|
rs1566894783
|
|
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu)
|
rs1566894783
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
NM_000138.5(FBN1):c.6705del (p.Tyr2236fs)
|
rs1555394900
|
|
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg)
|
rs1555401676
|
|
NM_000138.5(FBN1):c.6739+1G>A
|
rs869025419
|
|
NM_000138.5(FBN1):c.6739+1G>C
|
rs869025419
|
|
NM_000138.5(FBN1):c.6739+2T>A
|
rs730880107
|
|
NM_000138.5(FBN1):c.6740-10T>G
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6740-3C>G
|
rs1566894334
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)
|
|
|
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val)
|
rs2043018196
|
|
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr)
|
rs794728256
|
|
NM_000138.5(FBN1):c.6770_6771dup (p.Cys2258fs)
|
rs1555394779
|
|
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)
|
rs1057520617
|
|
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)
|
rs1555394777
|
|
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)
|
rs1555394776
|
|
NM_000138.5(FBN1):c.6790del (p.Glu2264fs)
|
rs1555394775
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn)
|
rs193922228
|
|
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys)
|
rs2141232534
|
|
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)
|
rs869025412
|
|
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly)
|
rs2043017257
|
|
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)
|
rs1597520625
|
|
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter)
|
rs397515840
|
|
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter)
|
rs1555394756
|
|
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
|
|
|
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)
|
rs869025413
|
|
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)
|
rs1566894230
|
|
NM_000138.5(FBN1):c.6872-961A>G
|
rs1597519658
|
|
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)
|
rs1555394647
|
|
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly)
|
rs1555394644
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)
|
rs1480832655
|
|
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp)
|
rs1555394634
|
|
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)
|
rs1555394630
|
|
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr)
|
rs137854457
|
|
NM_000138.5(FBN1):c.6927del (p.Asn2309fs)
|
rs1555394633
|
|
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)
|
rs1555394631
|
|
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter)
|
rs1555394628
|
|
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)
|
rs111588631
|
|
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)
|
rs1555394626
|
|
NM_000138.5(FBN1):c.6964delinsGG (p.Phe2322fs)
|
|
|
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe)
|
rs397515842
|
|
NM_000138.5(FBN1):c.6992_6997+6del
|
rs2141229796
|
|
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter)
|
rs534811966
|
|
NM_000138.5(FBN1):c.6997+1G>A
|
rs2042997306
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
|
|
|
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)
|
rs1555394580
|
|
NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs)
|
rs1555394579
|
|
NM_000138.5(FBN1):c.7071del (p.Val2358fs)
|
rs1555394571
|
|
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter)
|
rs1555394570
|
|
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)
|
rs1597517935
|
|
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe)
|
rs2042988482
|
|
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
|
|
|
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)
|
rs397515845
|
|
NM_000138.5(FBN1):c.7109del (p.Gly2370fs)
|
rs869025422
|
|
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)
|
rs1555394567
|
|
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp)
|
rs1555394562
|
|
NM_000138.5(FBN1):c.7139del (p.Phe2380fs)
|
rs1555394561
|
|
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)
|
rs869025414
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)
|
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7191dup (p.Thr2398fs)
|
rs1555394559
|
|
NM_000138.5(FBN1):c.7204+1G>A
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+1G>T
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+2T>C
|
rs1555394556
|
|
NM_000138.5(FBN1):c.7204G>A (p.Asp2402Asn)
|
rs1057524757
|
|
NM_000138.5(FBN1):c.7205-2A>C
|
rs1555394450
|
|
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg)
|
rs2042976167
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs)
|
rs1597516501
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser)
|
rs1566892915
|
|
NM_000138.5(FBN1):c.7251_7262del (p.Glu2417_Asn2420del)
|
|
|
NM_000138.5(FBN1):c.7252T>A (p.Cys2418Ser)
|
rs1555394441
|
|
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg)
|
rs1555394441
|
|
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr)
|
rs794728270
|
|
NM_000138.5(FBN1):c.7259del (p.Asn2420fs)
|
rs869025424
|
|
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg)
|
rs1566892883
|
|
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr)
|
rs2141226916
|
|
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys)
|
rs1555394437
|
|
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)
|
rs1555394435
|
|
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr)
|
rs1597516347
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7331-1G>C
|
rs1555394412
|
|
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
|
|
|
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter)
|
rs1555401667
|
|
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp)
|
rs1555394408
|
|
NM_000138.5(FBN1):c.737-17_740del
|
rs1597591735
|
|
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)
|
rs1555394407
|
|
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe)
|
rs1555394406
|
|
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser)
|
rs1555394405
|
|
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys)
|
rs754047254
|
|
NM_000138.5(FBN1):c.7399del (p.Gln2467fs)
|
rs2042971434
|
|
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg)
|
rs1085308004
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)
|
rs193922233
|
|
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp)
|
rs2042971166
|
|
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)
|
rs869025415
|
|
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)
|
rs1555394391
|
|
NM_000138.5(FBN1):c.7447T>G (p.Cys2483Gly)
|
|
|
NM_000138.5(FBN1):c.7453+1G>T
|
rs397515851
|
|
NM_000138.5(FBN1):c.7453+2T>G
|
|
|
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly)
|
rs1085307921
|
|
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
|
|
|
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)
|
rs1555394246
|
|
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe)
|
rs1555394245
|
|
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
|
|
|
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
|
|
|
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer)
|
rs397515852
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)
|
rs794728272
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter)
|
rs1555394235
|
|
NM_000138.5(FBN1):c.7571-1G>A
|
rs1566891706
|
|
NM_000138.5(FBN1):c.7574del (p.Asn2525fs)
|
rs1555394220
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
NM_000138.5(FBN1):c.7577del (p.Asn2526fs)
|
rs1555394218
|
|
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala)
|
rs397515853
|
|
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg)
|
rs1555394212
|
|
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
|
|
|
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
|
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs)
|
rs1555394206
|
|
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
|
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
NM_000138.5(FBN1):c.7643del (p.Phe2548fs)
|
rs1555394197
|
|
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg)
|
rs1566891668
|
|
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe)
|
rs113334360
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
|
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del)
|
rs2141220791
|
|
NM_000138.5(FBN1):c.7719del (p.Asn2574fs)
|
rs1555394152
|
|
NM_000138.5(FBN1):c.7735del (p.His2579fs)
|
rs1566891454
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=)
|
rs1555394148
|
|
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly)
|
rs111413134
|
|
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)
|
|
|
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)
|
rs869025416
|
|
NM_000138.5(FBN1):c.776G>T (p.Gly259Val)
|
rs751169871
|
|
NM_000138.5(FBN1):c.7776_7819+37delinsTAGCT
|
rs2141220506
|
|
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
NM_000138.5(FBN1):c.7800C>G (p.Tyr2600Ter)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7817T>A (p.Val2606Asp)
|
rs2141220600
|
|
NM_000138.5(FBN1):c.7819+1G>A
|
rs112907302
|
|
NM_000138.5(FBN1):c.7819+1G>T
|
rs112907302
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val)
|
rs1555393889
|
|
NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr)
|
rs1555393886
|
|
NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln)
|
rs794728338
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7897T>G (p.Cys2633Gly)
|
rs1555393871
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)
|
rs1555393866
|
|
NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs)
|
rs1555393862
|
|
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg)
|
rs1555393863
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly)
|
rs1555393847
|
|
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
|
|
|
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)
|
rs112196241
|
|
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del)
|
rs1597509607
|
|
NM_000138.5(FBN1):c.799_805del (p.Gly267fs)
|
rs1060501100
|
|
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys)
|
rs794728339
|
|
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro)
|
rs2141214610
|
|
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg)
|
rs1060501014
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)
|
rs1555393825
|
|
NM_000138.5(FBN1):c.8051+1G>A
|
rs2141214507
|
|
NM_000138.5(FBN1):c.8051+2T>A
|
rs2141214505
|
|
NM_000138.5(FBN1):c.8052-2A>G
|
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
|
|
|
NM_000138.5(FBN1):c.8087del (p.Asn2696fs)
|
rs1060501065
|
|
NM_000138.5(FBN1):c.8090_8099del (p.Pro2697fs)
|
|
|
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly)
|
rs1060501019
|
|
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter)
|
rs1555393657
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs)
|
rs1555393653
|
|
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter)
|
rs187553035
|
|
NM_000138.5(FBN1):c.8176del (p.Arg2726fs)
|
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
NM_000138.5(FBN1):c.8226+1G>A
|
rs398122833
|
|
NM_000138.5(FBN1):c.8252_8253dup (p.Ser2752Ter)
|
rs1555393565
|
|
NM_000138.5(FBN1):c.8329del (p.Ile2777fs)
|
rs1566888689
|
|
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg)
|
rs1555393553
|
|
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter)
|
rs1555393551
|
|
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)
|
rs869025417
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)
|
rs397515863
|
|
NM_000138.5(FBN1):c.8405G>T (p.Gly2802Val)
|
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His)
|
rs113170280
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del)
|
rs727504454
|
|
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs)
|
rs1555393525
|
|
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter)
|
rs397515864
|
|
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter)
|
rs1555393510
|
|
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.8561del (p.Leu2854fs)
|
rs1060501033
|
|
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr)
|
rs1060501028
|
|
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)
|
rs1597506547
|
|
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro)
|
rs397515865
|
|
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs)
|
rs397515866
|
|
NM_000138.5(FBN1):c.863-2A>G
|
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe)
|
rs2141343367
|
|
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
|
|
|
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter)
|
rs1555401005
|
|
NM_000138.5(FBN1):c.961_962del (p.Thr321fs)
|
rs1555401002
|
|
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
|
rs1597587453
|
|
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del)
|
rs2043846857
|
|
NM_000138.5:c.(7204+1_7205-1)_(7819+1_7820-1)del
|
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)
|
rs1057519321
|
|
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr)
|
rs1558264109
|
|
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter)
|
rs1656706610
|
|
NM_003238.6(TGFB2):c.346+1G>A
|
rs1553292145
|
|
NM_003238.6(TGFB2):c.346+1G>T
|
rs1553292145
|
|
NM_003238.6(TGFB2):c.370dup (p.Arg124fs)
|
rs869025533
|
|
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)
|
rs869025531
|
|
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)
|
rs1057518684
|
|
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)
|
rs730880221
|
|
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs)
|
rs1659897581
|
|
NM_003238.6(TGFB2):c.754+1G>A
|
|
|
NM_003238.6(TGFB2):c.755-5_755-2delinsG
|
rs1553303161
|
|
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
|
rs869312903
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
NM_003238.6(TGFB2):c.921_932+4del
|
|
|
NM_003238.6(TGFB2):c.933-1G>A
|
|
|
NM_003238.6(TGFB2):c.933-2A>C
|
|
|
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)
|
rs1553303352
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
NM_003239.5(TGFB3):c.1081-1G>A
|
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)
|
rs1555360027
|
|
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
|
|
|
NM_003239.5(TGFB3):c.353-1G>C
|
rs1555360883
|
|
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
|
|
|
NM_003239.5(TGFB3):c.517-1G>C
|
rs1566682530
|
|
NM_003239.5(TGFB3):c.517-2A>G
|
rs2035287906
|
|
NM_003239.5(TGFB3):c.646+1G>T
|
|
|
NM_003239.5(TGFB3):c.754+1G>A
|
|
|
NM_003239.5(TGFB3):c.755-1G>A
|
|
|
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
|
|
|
NM_003239.5(TGFB3):c.916del (p.Tyr306fs)
|
rs1555360362
|
|
NM_003239.5(TGFB3):c.926+1G>A
|
rs2035180096
|
|
NM_003239.5(TGFB3):c.926+1G>T
|
rs2035180096
|
|
NM_003239.5(TGFB3):c.927-1G>C
|
rs767548724
|
|
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys)
|
rs2140236263
|
|
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)
|
|
|
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)
|
rs869025537
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg)
|
rs2125436184
|
|
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)
|
rs1575158079
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg)
|
rs2125436754
|
|
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly)
|
rs2125436754
|
|
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val)
|
rs730880224
|
|
NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)
|
rs2125439099
|
|
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
|
rs886039551
|
|
NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser)
|
rs104893811
|
|
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro)
|
rs104893816
|
|
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)
|
rs587782979
|
|
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)
|
rs863224935
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)
|
rs200958264
|
|
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)
|
rs397516840
|
|
NM_003242.6(TGFBR2):c.1524+1G>A
|
rs727503475
|
|
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)
|
rs193922664
|
|
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)
|
rs876658120
|
|
NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)
|
|
|
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)
|
rs727504421
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)
|
rs727503472
|
|
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser)
|
rs2125434732
|
|
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)
|
rs863223857
|
|
NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met)
|
|
|
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)
|
rs1554701914
|
|
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)
|
rs2118827924
|
|
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr)
|
rs1827899415
|
|
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)
|
rs730880223
|
|
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
|
|
|
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)
|
rs1588598651
|
|
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)
|
rs111426349
|
|
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)
|
|
|
NM_004612.4(TGFBR1):c.487del (p.Asp163fs)
|
rs1827276619
|
|
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe)
|
rs863223807
|
|
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val)
|
rs1564161322
|
|
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)
|
rs727503470
|
|
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg)
|
rs727503470
|
|
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)
|
rs1564161544
|
|
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)
|
rs111854391
|
|
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp)
|
rs1588585506
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly)
|
rs863223819
|
|
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)
|
rs1827646767
|
|
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg)
|
rs1827647083
|
|
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)
|
|
|
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs)
|
|
|
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg)
|
rs2144300077
|
|
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu)
|
rs1595962708
|
|
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg)
|
rs886038961
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)
|
rs1555405092
|
|
NM_005902.4(SMAD3):c.206+1G>C
|
rs770098673
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter)
|
rs1962537574
|
|
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu)
|
rs1595941823
|
|
NM_005902.4(SMAD3):c.364G>A (p.Val122Met)
|
rs587782977
|
|
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)
|
rs2140188685
|
|
NM_005902.4(SMAD3):c.435_436del (p.Glu145fs)
|
|
|
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs)
|
rs2140294805
|
|
NM_005902.4(SMAD3):c.532+1G>C
|
rs2140295070
|
|
NM_005902.4(SMAD3):c.677A>C (p.Tyr226Ser)
|
|
|
NM_005902.4(SMAD3):c.67C>T (p.Gln23Ter)
|
|
|
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)
|
rs387906853
|
|
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.789del (p.Ser264fs)
|
rs1963050712
|
|
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs)
|
rs2140314299
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg)
|
rs730880215
|
|
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter)
|
|
|
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe)
|
rs1320208623
|
|