1 |
FLNA |
NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) |
SNV |
Pathogenic |
11773 |
rs137853318 |
X:153596100-153596100 |
X:154367732-154367732 |
2 |
FLNA |
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) |
SNV |
Pathogenic |
405445 |
rs1060500716 |
X:153588495-153588495 |
X:154360127-154360127 |
3 |
FLNA |
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) |
Deletion |
Pathogenic |
405447 |
rs1060500718 |
X:153581697-153581698 |
X:154353329-154353330 |
4 |
FLNA |
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) |
SNV |
Pathogenic |
11759 |
rs28935473 |
X:153588567-153588567 |
X:154360199-154360199 |
5 |
LOC107988032 |
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) |
Insertion |
Pathogenic |
453200 |
rs1557175195 |
X:153577381-153577382 |
X:154349013-154349014 |
6 |
FLNA |
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) |
Deletion |
Pathogenic |
464997 |
rs1557177086 |
X:153585895-153585907 |
X:154357527-154357539 |
7 |
FLNA |
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) |
Duplication |
Pathogenic |
465027 |
rs1557179357 |
X:153594986-153594987 |
X:154366618-154366619 |
8 |
FLNA |
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) |
SNV |
Pathogenic |
533562 |
rs1557177738 |
X:153588634-153588634 |
X:154360266-154360266 |
9 |
FLNA |
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) |
Deletion |
Pathogenic |
533585 |
rs1557177636 |
X:153588265-153588265 |
X:154359897-154359897 |
10 |
FLNA |
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) |
SNV |
Pathogenic |
11761 |
rs137853312 |
X:153588606-153588606 |
X:154360238-154360238 |
11 |
FLNA |
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) |
Deletion |
Pathogenic |
575768 |
rs1569551502 |
X:153582326-153582326 |
X:154353958-154353958 |
12 |
FLNA |
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) |
SNV |
Pathogenic |
580826 |
rs1569551861 |
X:153596053-153596053 |
X:154367685-154367685 |
13 |
FLNA |
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) |
SNV |
Pathogenic |
209154 |
rs797045044 |
X:153586596-153586596 |
X:154358228-154358228 |
14 |
LOC107988032 |
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) |
Deletion |
Pathogenic |
652215 |
rs1603358246 |
X:153577288-153577289 |
X:154348920-154348921 |
15 |
FLNA |
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) |
Duplication |
Pathogenic |
647567 |
rs1603359464 |
X:153581806-153581807 |
X:154353438-154353439 |
16 |
FLNA |
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) |
SNV |
Pathogenic |
574177 |
rs1557177623 |
X:153588214-153588214 |
X:154359846-154359846 |
17 |
FLNA |
NM_001110556.2(FLNA):c.2452del (p.Ala818fs) |
Deletion |
Pathogenic |
659278 |
rs1603361851 |
X:153590899-153590899 |
X:154362531-154362531 |
18 |
FLNA |
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) |
Indel |
Pathogenic |
662513 |
rs1603361195 |
X:153588859-153588867 |
X:154360491-154360499 |
19 |
FLNA |
NM_001110556.2(FLNA):c.2565+1G>A |
SNV |
Pathogenic |
575118 |
rs786205186 |
X:153590785-153590785 |
X:154362417-154362417 |
20 |
FLNA |
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) |
SNV |
Pathogenic |
853726 |
|
X:153594961-153594961 |
X:154366593-154366593 |
21 |
FLNA |
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) |
SNV |
Pathogenic |
856285 |
|
X:153582022-153582022 |
X:154353654-154353654 |
22 |
FLNA |
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) |
SNV |
Pathogenic |
864458 |
|
X:153594745-153594745 |
X:154366377-154366377 |
23 |
FLNA |
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) |
SNV |
Pathogenic |
11775 |
rs387907371 |
X:153583193-153583193 |
X:154354825-154354825 |
24 |
LOC107988032 |
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) |
Microsatellite |
Pathogenic |
938503 |
|
X:153577873-153577874 |
X:154349505-154349506 |
25 |
FLNA |
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) |
Deletion |
Pathogenic |
940733 |
|
X:153592978-153592984 |
X:154364610-154364616 |
26 |
FLNA |
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) |
SNV |
Pathogenic |
941466 |
|
X:153588421-153588421 |
X:154360053-154360053 |
27 |
FLNA |
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) |
SNV |
Pathogenic |
234717 |
rs782308324 |
X:153578477-153578477 |
X:154350109-154350109 |
28 |
FLNA |
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) |
Duplication |
Pathogenic |
959608 |
|
X:153591149-153591150 |
X:154362781-154362782 |
29 |
FLNA |
NM_001110556.2(FLNA):c.6586del (p.His2196fs) |
Deletion |
Pathogenic |
964600 |
|
X:153580732-153580732 |
X:154352364-154352364 |
30 |
FLNA |
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) |
SNV |
Pathogenic |
967048 |
|
X:153594817-153594817 |
X:154366449-154366449 |
31 |
FLNA |
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) |
SNV |
Pathogenic |
959369 |
|
X:153585923-153585923 |
X:154357555-154357555 |
32 |
FLNA |
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) |
SNV |
Pathogenic |
11756 |
rs28935470 |
X:153595873-153595873 |
X:154367505-154367505 |
33 |
FLNA |
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) |
SNV |
Pathogenic |
11772 |
rs137853317 |
X:153596246-153596246 |
X:154367878-154367878 |
34 |
FLNA |
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) |
SNV |
Likely pathogenic |
11772 |
rs137853317 |
X:153596246-153596246 |
X:154367878-154367878 |
35 |
LOC107988032 |
NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) |
Microsatellite |
Likely pathogenic |
854776 |
|
X:153577388-153577390 |
X:154349020-154349022 |
36 |
FLNA |
NM_001110556.2(FLNA):c.2827-2A>C |
SNV |
Likely pathogenic |
859086 |
|
X:153590157-153590157 |
X:154361789-154361789 |
37 |
FLNA |
NM_001110556.2(FLNA):c.1065+1G>T |
SNV |
Likely pathogenic |
841425 |
|
X:153594929-153594929 |
X:154366561-154366561 |
38 |
FLNA |
NM_001110556.2(FLNA):c.4142+1G>A |
SNV |
Likely pathogenic |
662049 |
rs1603360906 |
X:153587851-153587851 |
X:154359483-154359483 |
39 |
FLNA |
NM_001110556.2(FLNA):c.4596_4598+5del |
Deletion |
Likely pathogenic |
464993 |
rs1557177279 |
X:153586808-153586815 |
X:154358440-154358447 |
40 |
FLNA |
NM_001110556.2(FLNA):c.4143-1G>T |
SNV |
Likely pathogenic |
464989 |
rs1557177485 |
X:153587775-153587775 |
X:154359407-154359407 |
41 |
FLNA |
NM_001110556.2(FLNA):c.5686+1G>C |
SNV |
Likely pathogenic |
533566 |
rs1557176315 |
X:153582282-153582282 |
X:154353914-154353914 |
42 |
FLNA |
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) |
SNV |
Uncertain significance |
533567 |
rs1557175646 |
X:153579378-153579378 |
X:154351010-154351010 |
43 |
FLNA |
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) |
SNV |
Uncertain significance |
533568 |
rs1557178932 |
X:153593582-153593582 |
X:154365214-154365214 |
44 |
FLNA |
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) |
SNV |
Uncertain significance |
533569 |
rs1557177627 |
X:153588218-153588218 |
X:154359850-154359850 |
45 |
FLNA |
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) |
SNV |
Uncertain significance |
435211 |
rs1557175878 |
X:153580284-153580284 |
X:154351916-154351916 |
46 |
FLNA |
NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met) |
SNV |
Uncertain significance |
533570 |
rs1557175818 |
X:153579999-153579999 |
X:154351631-154351631 |
47 |
LOC107988032 |
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) |
SNV |
Uncertain significance |
533571 |
rs782341270 |
X:153577261-153577261 |
X:154348893-154348893 |
48 |
FLNA |
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) |
SNV |
Uncertain significance |
423675 |
rs781827791 |
X:153594681-153594681 |
X:154366313-154366313 |
49 |
FLNA |
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) |
SNV |
Uncertain significance |
533572 |
rs1557178045 |
X:153589918-153589918 |
X:154361550-154361550 |
50 |
FLNA |
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) |
SNV |
Uncertain significance |
533573 |
rs369668866 |
X:153588903-153588903 |
X:154360535-154360535 |