1 |
FBN1 |
NM_000138.4(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) |
Deletion |
Pathogenic |
16459 |
rs1555396783 |
15:48755406-48755429 |
15:48463209-48463232 |
2 |
FBN1 |
NM_000138.5(FBN1):c.1468+5G>A |
SNV |
Pathogenic |
42284 |
rs397515757 |
15:48807579-48807579 |
15:48515382-48515382 |
3 |
FBN1 |
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) |
SNV |
Pathogenic |
16461 |
rs137854480 |
15:48829826-48829826 |
15:48537629-48537629 |
4 |
FBN1 |
NM_000138.5(FBN1):c.3712G>A |
SNV |
Pathogenic |
200022 |
rs794728208 |
15:48777571-48777571 |
15:48485374-48485374 |
5 |
FBN1 |
NM_000138.5(FBN1):c.2645C>T |
SNV |
Pathogenic |
200001 |
rs794728195 |
15:48787352-48787352 |
15:48495155-48495155 |
6 |
FBN1 |
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) |
SNV |
Pathogenic |
180352 |
rs730880099 |
15:48802322-48802322 |
15:48510125-48510125 |
7 |
FBN1 |
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) |
SNV |
Pathogenic |
265401 |
rs140583 |
15:48787416-48787416 |
15:48495219-48495219 |
8 |
FBN1 |
NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) |
Deletion |
Pathogenic |
625943 |
rs1566911957 |
15:48788401-48788411 |
15:48496204-48496214 |
9 |
FBN1 |
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) |
SNV |
Pathogenic |
163480 |
rs727503057 |
15:48797303-48797303 |
15:48505106-48505106 |
10 |
FBN1 |
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) |
SNV |
Pathogenic |
36082 |
rs113871094 |
15:48758017-48758017 |
15:48465820-48465820 |
11 |
FBN1 |
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) |
SNV |
Pathogenic |
36107 |
rs193922228 |
15:48722933-48722933 |
15:48430736-48430736 |
12 |
FBN1 |
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) |
SNV |
Pathogenic |
36078 |
rs111401431 |
15:48760294-48760294 |
15:48468097-48468097 |
13 |
FBN1 |
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) |
SNV |
Pathogenic |
264272 |
rs111984349 |
15:48707956-48707956 |
15:48415759-48415759 |
14 |
FBN1 |
NM_000138.5(FBN1):c.1948C>T |
SNV |
Pathogenic |
36042 |
rs193922185 |
15:48797234-48797234 |
15:48505037-48505037 |
15 |
FBN1 |
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) |
SNV |
Likely pathogenic |
200191 |
rs794728334 |
15:48729266-48729266 |
15:48437069-48437069 |
16 |
FBN1 |
NM_000138.4(FBN1):c.4460-8G>A |
SNV |
Likely pathogenic |
36075 |
rs193922204 |
15:48760739-48760739 |
15:48468542-48468542 |
17 |
FBN1 |
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) |
SNV |
Likely pathogenic |
626100 |
rs71467648 |
15:48730095-48730095 |
15:48437898-48437898 |
18 |
FBN1 |
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) |
SNV |
Likely pathogenic |
439708 |
rs113543334 |
15:48725141-48725141 |
15:48432944-48432944 |
19 |
FBN1 |
NM_000138.4(FBN1):c.5546-1G>A |
SNV |
Likely pathogenic |
626102 |
rs1566899590 |
15:48741091-48741091 |
15:48448894-48448894 |
20 |
FBN1 |
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) |
SNV |
Likely pathogenic |
163462 |
rs727503054 |
15:48712949-48712949 |
15:48420752-48420752 |
21 |
FBN1 |
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) |
SNV |
Likely pathogenic |
523334 |
rs1555397413 |
15:48762902-48762902 |
15:48470705-48470705 |
22 |
FBN1 |
NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) |
SNV |
Likely pathogenic |
549204 |
rs1555397718 |
15:48766763-48766763 |
15:48474566-48474566 |
23 |
FBN1 |
NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) |
SNV |
Likely pathogenic |
495590 |
rs397515791 |
15:48779559-48779559 |
15:48487362-48487362 |
24 |
FBN1 |
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) |
Duplication |
Likely pathogenic |
828001 |
rs1597631624 |
15:48902952-48902953 |
15:48610755-48610756 |
25 |
FBN1 |
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) |
SNV |
Likely pathogenic |
457162 |
rs1555400373 |
15:48807590-48807590 |
15:48515393-48515393 |
26 |
FBN1 |
NM_000138.4(FBN1):c.3083A>G (p.Asp1028Gly) |
SNV |
Uncertain significance |
429319 |
rs1131691317 |
15:48780690-48780690 |
15:48488493-48488493 |
27 |
FBN1 |
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) |
SNV |
Uncertain significance |
16451 |
rs137854475 |
15:48779352-48779352 |
15:48487155-48487155 |
28 |
FBN1 |
NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) |
SNV |
Uncertain significance |
495593 |
rs144339604 |
15:48779510-48779510 |
15:48487313-48487313 |
29 |
FBN1 |
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) |
SNV |
Uncertain significance |
42370 |
rs148888513 |
15:48758053-48758053 |
15:48465856-48465856 |
30 |
FBN1 |
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) |
SNV |
Uncertain significance |
36074 |
rs61730054 |
15:48762849-48762849 |
15:48470652-48470652 |
31 |
FBN1 |
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) |
SNV |
Uncertain significance |
42356 |
rs377338217 |
15:48764778-48764778 |
15:48472581-48472581 |
32 |
FBN1 |
NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) |
SNV |
Uncertain significance |
519804 |
rs145464311 |
15:48787397-48787397 |
15:48495200-48495200 |
33 |
FBN1 |
NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) |
SNV |
Uncertain significance |
237085 |
rs878853678 |
15:48789550-48789550 |
15:48497353-48497353 |
34 |
FBN1 |
NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) |
SNV |
Uncertain significance |
527175 |
rs982468949 |
15:48826346-48826346 |
15:48534149-48534149 |
35 |
FBN1 |
NM_000138.5(FBN1):c.164+5A>G |
SNV |
Uncertain significance |
42289 |
rs397515760 |
15:48936798-48936798 |
15:48644601-48644601 |
36 |
FBN1 |
NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) |
SNV |
Uncertain significance |
36130 |
rs193922245 |
15:48936884-48936884 |
15:48644687-48644687 |
37 |
FBN1 |
NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) |
SNV |
Uncertain significance |
418202 |
rs146469379 |
15:48707757-48707757 |
15:48415560-48415560 |
38 |
FBN1 |
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) |
SNV |
Uncertain significance |
42434 |
rs141133182 |
15:48707932-48707932 |
15:48415735-48415735 |
39 |
FBN1 |
NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) |
SNV |
Uncertain significance |
501654 |
rs368650399 |
15:48762932-48762932 |
15:48470735-48470735 |
40 |
FBN1 |
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) |
SNV |
Uncertain significance |
42355 |
rs201273753 |
15:48764814-48764814 |
15:48472617-48472617 |
41 |
FBN1 |
NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu) |
SNV |
Uncertain significance |
626103 |
rs1566904712 |
15:48760729-48760729 |
15:48468532-48468532 |
42 |
FBN1 |
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) |
SNV |
Uncertain significance |
828000 |
rs1052480459 |
15:48730034-48730034 |
15:48437837-48437837 |
43 |
FBN1 |
NM_000138.5(FBN1):c.6749A>T (p.Glu2250Val) |
SNV |
Uncertain significance |
992537 |
|
15:48722990-48722990 |
15:48430793-48430793 |
44 |
FBN1 |
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) |
SNV |
Uncertain significance |
381319 |
rs141925790 |
15:48756163-48756163 |
15:48463966-48463966 |
45 |
FBN1 |
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=) |
SNV |
Uncertain significance |
626101 |
rs1290478839 |
15:48720583-48720583 |
15:48428386-48428386 |
46 |
FBN1 |
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) |
SNV |
Uncertain significance |
549070 |
rs1555399361 |
15:48789469-48789469 |
15:48497272-48497272 |
47 |
FBN1 |
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) |
SNV |
Uncertain significance |
199947 |
rs138438849 |
15:48782196-48782196 |
15:48489999-48489999 |
48 |
FBN1 |
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) |
SNV |
Uncertain significance |
200054 |
rs776625874 |
15:48760155-48760155 |
15:48467958-48467958 |
49 |
FBN1 |
NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) |
SNV |
Uncertain significance |
457269 |
rs376119827 |
15:48703571-48703571 |
15:48411374-48411374 |