NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser)
|
rs199838752
|
0.00102
|
NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile)
|
rs143194982
|
0.00011
|
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)
|
rs200521815
|
0.00010
|
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)
|
rs781844419
|
0.00007
|
NM_001278689.2(EOGT):c.1335-1G>A
|
rs185181819
|
0.00006
|
NM_001278689.2(EOGT):c.311+1G>T
|
rs369583084
|
0.00005
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter)
|
rs113422242
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys)
|
rs1849966701
|
0.00001
|
NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu)
|
rs1369632373
|
0.00001
|
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)
|
rs760169368
|
0.00001
|
NM_001613.4(ACTA2):c.247G>A (p.Asp83Asn)
|
rs794728023
|
0.00001
|
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn)
|
rs757988142
|
0.00001
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys)
|
rs1448345366
|
0.00001
|
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val)
|
rs1064796983
|
0.00001
|
BGN, 21-KB DEL (SCV000266570)
|
|
|
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
|
|
|
GRCh37/hg19 15q21.1(chr15:48703187-48937906)
|
|
|
GRCh37/hg19 15q21.1(chr15:48707733-48758055)
|
|
|
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)
|
|
|
GRCh37/hg19 15q21.1(chr15:48902925-48937906)
|
|
|
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
|
|
|
GRCh37/hg19 19p12(chr19:20834979-20987550)
|
|
|
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
|
|
|
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
|
|
|
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
|
|
|
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
|
|
|
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
|
|
|
NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup
|
|
|
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del
|
|
|
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)
|
rs1555396205
|
|
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)
|
rs1555400606
|
|
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)
|
rs1555400595
|
|
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter)
|
rs1355716557
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1299dup (p.Tyr434fs)
|
rs2141330877
|
|
NM_000138.5(FBN1):c.1391del (p.Arg464fs)
|
rs1555400385
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter)
|
rs113812345
|
|
NM_000138.5(FBN1):c.1575del (p.Thr526fs)
|
rs1555400268
|
|
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)
|
rs137854476
|
|
NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr)
|
rs1555400064
|
|
NM_000138.5(FBN1):c.164+1G>A
|
rs794728213
|
|
NM_000138.5(FBN1):c.164+1del
|
rs1555407399
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.1720del (p.Asp574fs)
|
rs2141321697
|
|
NM_000138.5(FBN1):c.1823del (p.Gly608fs)
|
rs1555399949
|
|
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)
|
rs1555399944
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
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.1884C>G (p.Cys628Trp)
|
rs150421653
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs)
|
rs2141317141
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1957_1958dup (p.Asp654fs)
|
rs886041350
|
|
NM_000138.5(FBN1):c.1969_1970del (p.Met657fs)
|
rs2141315944
|
|
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr)
|
rs1060501086
|
|
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr)
|
rs1555399763
|
|
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.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs)
|
rs1555399281
|
|
NM_000138.5(FBN1):c.2307T>G (p.Cys769Trp)
|
rs2141305134
|
|
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr)
|
rs193922188
|
|
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)
|
rs111764111
|
|
NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg)
|
rs2043606316
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.247+1G>A
|
rs25404
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)
|
rs2043596204
|
|
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)
|
rs140583
|
|
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.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2696_2697dup (p.Tyr900fs)
|
rs2141302411
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg)
|
rs2140734026
|
|
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr)
|
rs2141300460
|
|
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg)
|
rs2141300401
|
|
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr)
|
rs1555398989
|
|
NM_000138.5(FBN1):c.2777G>C (p.Cys926Ser)
|
rs1555398989
|
|
NM_000138.5(FBN1):c.2854G>C (p.Asp952His)
|
rs2141300251
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.2875_2908dup (p.Pro970fs)
|
rs2141297440
|
|
NM_000138.5(FBN1):c.2903_2910dup (p.Ile971fs)
|
rs2141297429
|
|
NM_000138.5(FBN1):c.2T>C (p.Met1Thr)
|
rs886041536
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3083-1G>C
|
rs2141295345
|
|
NM_000138.5(FBN1):c.3130T>G (p.Cys1044Gly)
|
rs2141295251
|
|
NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter)
|
rs1555398677
|
|
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.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr)
|
rs397515786
|
|
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs)
|
rs2141294789
|
|
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)
|
rs1555398633
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3337+1G>A
|
rs397515789
|
|
NM_000138.5(FBN1):c.3338-2A>G
|
rs2141293812
|
|
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)
|
rs140597
|
|
NM_000138.5(FBN1):c.3370T>G (p.Cys1124Gly)
|
rs2141293730
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3388del (p.His1130fs)
|
rs1555398572
|
|
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs)
|
rs2141293662
|
|
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs)
|
rs1555398566
|
|
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.3545_3548dup (p.Asn1183fs)
|
rs2141293186
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
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.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter)
|
rs1131691311
|
|
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr)
|
rs1555398173
|
|
NM_000138.5(FBN1):c.3871del (p.Cys1291fs)
|
rs2141287465
|
|
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.4016G>C (p.Cys1339Ser)
|
rs397515798
|
|
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr)
|
rs1555397720
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
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.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr)
|
rs2141279869
|
|
NM_000138.5(FBN1):c.4120T>C (p.Cys1374Arg)
|
rs2141279837
|
|
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly)
|
rs2141279837
|
|
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr)
|
rs1060501026
|
|
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs)
|
rs1555397655
|
|
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly)
|
rs2141279646
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg)
|
rs397515802
|
|
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)
|
rs397515804
|
|
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr)
|
rs1555397545
|
|
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)
|
rs1555397540
|
|
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp)
|
rs112375043
|
|
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)
|
rs794728221
|
|
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)
|
rs2043365537
|
|
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)
|
rs1555397403
|
|
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.44T>G (p.Val15Gly)
|
rs2140787791
|
|
NM_000138.5(FBN1):c.451G>T (p.Glu151Ter)
|
rs1180715983
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4582+1G>A
|
rs1555397195
|
|
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.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)
|
rs794728228
|
|
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter)
|
rs267606799
|
|
NM_000138.5(FBN1):c.473del (p.Gly158fs)
|
rs2140711733
|
|
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)
|
rs1555397024
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4813del (p.Glu1605fs)
|
rs1555397016
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4943-1G>C
|
rs1555396863
|
|
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs)
|
rs1555396858
|
|
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly)
|
rs2044515247
|
|
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)
|
rs1555396838
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
NM_000138.5(FBN1):c.5066del (p.Asp1689fs)
|
rs727504347
|
|
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)
|
rs113249837
|
|
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg)
|
rs1555396427
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5422+1del
|
rs2141260277
|
|
NM_000138.5(FBN1):c.5444del (p.Gly1815fs)
|
rs2141256088
|
|
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter)
|
rs1555396201
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5672-1G>A
|
rs1555395849
|
|
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)
|
rs794728237
|
|
NM_000138.5(FBN1):c.5714G>C (p.Cys1905Ser)
|
rs112655848
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.577del (p.Gln193fs)
|
rs1555401697
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn)
|
rs1555395820
|
|
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.5823_5824del (p.Cys1942fs)
|
rs1060501089
|
|
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.5863C>T (p.Gln1955Ter)
|
rs363807
|
|
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5917+1_5917+11del
|
rs2141249066
|
|
NM_000138.5(FBN1):c.5917+3A>C
|
rs202158568
|
|
NM_000138.5(FBN1):c.5917+5G>A
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)
|
rs1555395659
|
|
NM_000138.5(FBN1):c.5956_5957insA (p.Pro1986fs)
|
rs2141248130
|
|
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser)
|
rs2141248056
|
|
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp)
|
rs1566897420
|
|
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr)
|
rs397515830
|
|
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter)
|
rs974604498
|
|
NM_000138.5(FBN1):c.619dup (p.Thr207fs)
|
rs1555401689
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6314-7_6322del
|
rs2141240946
|
|
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter)
|
rs1555395229
|
|
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter)
|
rs267606797
|
|
NM_000138.5(FBN1):c.6379+2T>G
|
rs113453570
|
|
NM_000138.5(FBN1):c.6379+5G>A
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6380-2A>C
|
rs886041482
|
|
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6391T>C (p.Cys2131Arg)
|
rs1555395210
|
|
NM_000138.5(FBN1):c.6409T>G (p.Cys2137Gly)
|
rs2141240456
|
|
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.6483_6496+1del
|
rs2141240279
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6616+1G>A
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6616+1G>T
|
rs1064793980
|
|
NM_000138.5(FBN1):c.6625del (p.Glu2209fs)
|
rs2141235258
|
|
NM_000138.5(FBN1):c.6645del (p.Leu2216fs)
|
rs1555394928
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg)
|
rs113543334
|
|
NM_000138.5(FBN1):c.6694T>A (p.Cys2232Ser)
|
rs869025411
|
|
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser)
|
rs1060501054
|
|
NM_000138.5(FBN1):c.6739+1G>C
|
rs869025419
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs)
|
rs2141232648
|
|
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)
|
rs1555394777
|
|
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs)
|
rs2141232621
|
|
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)
|
rs1555394776
|
|
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.680_690del (p.Gln227fs)
|
rs1555401671
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)
|
rs1555394630
|
|
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)
|
rs1555394631
|
|
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6951del (p.Glu2317fs)
|
rs2141229903
|
|
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)
|
rs111588631
|
|
NM_000138.5(FBN1):c.6992_6997+6del
|
rs2141229796
|
|
NM_000138.5(FBN1):c.6997+1G>A
|
rs2042997306
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)
|
rs1555394567
|
|
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs)
|
rs2141228932
|
|
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)
|
rs869025423
|
|
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs)
|
rs397515846
|
|
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)
|
rs397515848
|
|
NM_000138.5(FBN1):c.7204+1G>T
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe)
|
rs2141226916
|
|
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)
|
rs1555394435
|
|
NM_000138.5(FBN1):c.7383del (p.Asn2461fs)
|
rs2141226409
|
|
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter)
|
rs1555394402
|
|
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter)
|
rs537570299
|
|
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)
|
rs1555394391
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser)
|
rs1060501055
|
|
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter)
|
rs2141222456
|
|
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.7605C>A (p.Cys2535Ter)
|
rs113544411
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7693del (p.Cys2565fs)
|
rs2141221743
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter)
|
rs146348130
|
|
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys)
|
rs1566891404
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)
|
rs1555394136
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr)
|
rs397515859
|
|
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter)
|
rs1555393844
|
|
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs)
|
rs2141214634
|
|
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg)
|
rs1555393825
|
|
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs)
|
rs2141209520
|
|
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg)
|
rs2141343372
|
|
NM_000138.5(FBN1):c.961_962del (p.Thr321fs)
|
rs1555401002
|
|
NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG
|
rs2122603096
|
|
NM_000214.3(JAG1):c.2242T>C (p.Cys748Arg)
|
rs2122602509
|
|
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)
|
rs1562569196
|
|
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)
|
rs766692577
|
|
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala)
|
rs201782046
|
|
NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile)
|
rs782234539
|
|
NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu)
|
rs1475916528
|
|
NM_001160160.2(SCN5A):c.4714+95GGGT[3]
|
|
|
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)
|
rs1554829003
|
|
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu)
|
rs150678882
|
|
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp)
|
rs1772040461
|
|
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr)
|
rs1247059195
|
|
NM_001278689.2(EOGT):c.78_81del (p.His27fs)
|
rs771160630
|
|
NM_001711.6(BGN):c.238G>A (p.Gly80Ser)
|
rs886037825
|
|
NM_001711.6(BGN):c.5G>A (p.Trp2Ter)
|
rs886037823
|
|
NM_001711.6(BGN):c.908A>C (p.Gln303Pro)
|
rs886037824
|
|
NM_001844.5(COL2A1):c.3111+2T>C
|
rs1938818395
|
|
NM_001927.4(DES):c.700G>T (p.Glu234Ter)
|
rs774739275
|
|
NM_001943.5(DSG2):c.2979G>T (p.Gln993His)
|
rs565904909
|
|
NM_002317.7(LOX):c.351del (p.Arg118fs)
|
rs1274931972
|
|
NM_002317.7(LOX):c.445G>T (p.Gly149Ter)
|
rs766969559
|
|
NM_002317.7(LOX):c.53_66del (p.Leu18fs)
|
rs2152591749
|
|
NM_002317.7(LOX):c.893T>G (p.Met298Arg)
|
rs876657852
|
|
NM_002317.7(LOX):c.917T>C (p.Leu306Pro)
|
rs2152589570
|
|
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)
|
rs727503473
|
|
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
|
rs886039551
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)
|
rs900988907
|
|
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)
|
rs1246889300
|
|
NM_005585.5(SMAD6):c.584T>G (p.Val195Gly)
|
|
|
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala)
|
rs768542939
|
|
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly)
|
rs1395007983
|
|
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)
|
rs1419095990
|
|
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)
|
rs1567092020
|
|
NM_005585.5(SMAD6):c.794del (p.His265fs)
|
rs1567092071
|
|
NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
|
|
|
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser)
|
rs1555414491
|
|
NM_006390.4(IPO8):c.1000dup (p.Val334fs)
|
rs2136158926
|
|
NM_006390.4(IPO8):c.1420C>T (p.Arg474Ter)
|
rs1160566841
|
|
NM_006390.4(IPO8):c.1428+5G>A
|
rs2136152576
|
|
NM_006390.4(IPO8):c.2347_2369del (p.Leu783fs)
|
rs2136127817
|
|
NM_006390.4(IPO8):c.2597_2601del (p.Leu866fs)
|
rs1565492786
|
|
NM_006390.4(IPO8):c.2900-1G>A
|
rs1243135564
|
|
NM_006390.4(IPO8):c.770_777del (p.Val257fs)
|
rs2136163711
|
|
NM_006390.4(IPO8):c.776G>A (p.Trp259Ter)
|
rs2136163716
|
|
NM_014633.5(CTR9):c.109G>C (p.Glu37Gln)
|
rs2135353178
|
|
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)
|
rs869312709
|
|
NM_014633.5(CTR9):c.1364A>G (p.Asn455Ser)
|
rs772196842
|
|
NM_014633.5(CTR9):c.1405G>A (p.Glu469Lys)
|
rs2135369472
|
|
NM_014633.5(CTR9):c.2296A>G (p.Thr766Ala)
|
rs2135378796
|
|
NM_014633.5(CTR9):c.254G>A (p.Cys85Tyr)
|
rs2135356050
|
|
NM_014633.5(CTR9):c.2633G>A (p.Arg878Gln)
|
rs1397467879
|
|
NM_014633.5(CTR9):c.43G>A (p.Glu15Lys)
|
rs2135351445
|
|
NM_014633.5(CTR9):c.50T>C (p.Ile17Thr)
|
rs2135353090
|
|
NM_014633.5(CTR9):c.74C>G (p.Pro25Arg)
|
rs2135353126
|
|
NM_014633.5(CTR9):c.76G>C (p.Glu26Gln)
|
rs2135353143
|
|
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)
|
rs1166323407
|
|
NM_015474.4(SAMHD1):c.109G>T (p.Glu37Ter)
|
rs1684124082
|
|
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly)
|
rs1553878211
|
|
NM_015874.6(RBPJ):c.157T>G (p.Phe53Val)
|
rs1553880029
|
|
NM_015874.6(RBPJ):c.957C>A (p.Ser319Arg)
|
rs1553882550
|
|
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)
|
rs754529382
|
|
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr)
|
rs1057523819
|
|
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs)
|
rs1554729443
|
|
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter)
|
rs1554729113
|
|
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr)
|
rs1554728424
|
|
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter)
|
rs1554730670
|
|
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter)
|
rs587778569
|
|
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser)
|
rs1554728005
|
|
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn)
|
rs1554727954
|
|
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser)
|
rs864622062
|
|
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly)
|
rs777859108
|
|
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg)
|
rs1554826698
|
|
NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val)
|
rs1554826688
|
|
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs)
|
rs1554730184
|
|
NM_018127.7(ELAC2):c.[1218+3A>C;2009del]
|
|
|
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg)
|
rs796065347
|
|
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)
|
rs796065346
|
|
NM_019074.4(DLL4):c.1240+5G>C
|
rs1555393082
|
|
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser)
|
rs1555393125
|
|
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp)
|
rs796065345
|
|
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr)
|
rs1247027543
|
|
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter)
|
rs796065344
|
|
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter)
|
rs61750844
|
|
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter)
|
rs1555393182
|
|
NM_019074.4(DLL4):c.265_267del (p.Phe89del)
|
rs1555392837
|
|
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro)
|
rs796065350
|
|
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys)
|
rs796065348
|
|
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu)
|
rs796065351
|
|
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr)
|
rs796065349
|
|
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro)
|
rs1555393027
|
|
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter)
|
rs1553768038
|
|
Single allele
|
|
|