1 |
FLNA |
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs) |
INSERT |
Pathogenic
|
1407335 |
|
GRCh37: X:153592478-153592479 GRCh38: X:154364110-154364111 |
2 |
FLNA |
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs) |
DEL |
Pathogenic
|
1456389 |
|
GRCh37: X:153587636-153587636 GRCh38: X:154359268-154359268 |
3 |
FLNA |
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs) |
DUP |
Pathogenic
|
1444364 |
|
GRCh37: X:153594790-153594791 GRCh38: X:154366422-154366423 |
4 |
FLNA |
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs) |
DUP |
Pathogenic
|
1434332 |
|
GRCh37: X:153590420-153590421 GRCh38: X:154362052-154362053 |
5 |
FLNA |
NM_001110556.2(FLNA):c.656del (p.Ser219fs) |
DEL |
Pathogenic
|
1451173 |
|
GRCh37: X:153596073-153596073 GRCh38: X:154367705-154367705 |
6 |
FLNA |
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) |
DEL |
Pathogenic
|
940733 |
rs2067741257 |
GRCh37: X:153592978-153592984 GRCh38: X:154364610-154364616 |
7 |
FLNA |
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) |
SNV |
Pathogenic
|
959369 |
rs781789823 |
GRCh37: X:153585923-153585923 GRCh38: X:154357555-154357555 |
8 |
FLNA |
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) |
DUP |
Pathogenic
|
959608 |
rs2067723474 |
GRCh37: X:153591149-153591150 GRCh38: X:154362781-154362782 |
9 |
FLNA |
NM_001110556.2(FLNA):c.6586del (p.His2196fs) |
DEL |
Pathogenic
|
964600 |
rs2067626336 |
GRCh37: X:153580732-153580732 GRCh38: X:154352364-154352364 |
10 |
FLNA |
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs) |
INSERT |
Pathogenic
|
1069630 |
|
GRCh37: X:153599279-153599280 GRCh38: X:154370911-154370912 |
11 |
FLNA |
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer) |
DEL |
Pathogenic
|
1071650 |
|
GRCh37: X:153595798-153595804 GRCh38: X:154367430-154367436 |
12 |
FLNA |
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter) |
SNV |
Pathogenic
|
1072111 |
|
GRCh37: X:153596255-153596255 GRCh38: X:154367887-154367887 |
13 |
FLNA |
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs) |
MICROSAT |
Pathogenic
|
1072754 |
|
GRCh37: X:153581189-153581190 GRCh38: X:154352821-154352822 |
14 |
FLNA |
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs) |
DEL |
Pathogenic
|
1452088 |
|
GRCh37: X:153589919-153589920 GRCh38: X:154361551-154361552 |
15 |
FLNA |
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) |
SNV |
Pathogenic
|
93752 |
rs398123614 |
GRCh37: X:153590412-153590412 GRCh38: X:154362044-154362044 |
16 |
overlap with 2 genes |
NC_000023.10:g.(?_153599231)_(153609567_?)del |
DEL |
Pathogenic
|
1455467 |
|
GRCh37: X:153599231-153609567 GRCh38: |
17 |
FLNA |
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter) |
SNV |
Pathogenic
|
1429750 |
|
GRCh37: X:153593258-153593258 GRCh38: X:154364890-154364890 |
18 |
LOC107988032, FLNA |
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) |
DEL |
Pathogenic
|
652215 |
rs1603358246 |
GRCh37: X:153577288-153577289 GRCh38: X:154348920-154348921 |
19 |
FLNA |
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter) |
SNV |
Pathogenic
|
1075551 |
|
GRCh37: X:153589918-153589918 GRCh38: X:154361550-154361550 |
20 |
FLNA |
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) |
SNV |
Pathogenic
|
234717 |
rs782308324 |
GRCh37: X:153578477-153578477 GRCh38: X:154350109-154350109 |
21 |
LOC107988032, FLNA |
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) |
MICROSAT |
Pathogenic
|
938503 |
rs2067602034 |
GRCh37: X:153577873-153577874 GRCh38: X:154349505-154349506 |
22 |
FLNA |
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) |
SNV |
Pathogenic
|
941466 |
rs2067693064 |
GRCh37: X:153588421-153588421 GRCh38: X:154360053-154360053 |
23 |
FLNA |
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) |
SNV |
Pathogenic
|
405446 |
rs1060500717 |
GRCh37: X:153580594-153580594 GRCh38: X:154352226-154352226 |
24 |
FLNA |
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) |
SNV |
Pathogenic
|
967048 |
rs2067761804 |
GRCh37: X:153594817-153594817 GRCh38: X:154366449-154366449 |
25 |
FLNA |
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) |
SNV |
Pathogenic
|
11775 |
rs387907371 |
GRCh37: X:153583193-153583193 GRCh38: X:154354825-154354825 |
26 |
LOC107988032, FLNA |
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) |
MICROSAT |
Pathogenic
|
453200 |
rs1557175195 |
GRCh37: X:153577381-153577382 GRCh38: X:154349013-154349014 |
27 |
FLNA |
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs) |
DUP |
Pathogenic
|
1075693 |
|
GRCh37: X:153587855-153587856 GRCh38: X:154359487-154359488 |
28 |
FLNA |
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs) |
DEL |
Pathogenic
|
1073243 |
|
GRCh37: X:153583264-153583264 GRCh38: X:154354896-154354896 |
29 |
FLNA |
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs) |
DUP |
Pathogenic
|
1071106 |
|
GRCh37: X:153580640-153580641 GRCh38: X:154352272-154352273 |
30 |
FLNA |
NM_001110556.2(FLNA):c.2947dup (p.Val983fs) |
DUP |
Pathogenic
|
1070361 |
|
GRCh37: X:153589935-153589936 GRCh38: X:154361567-154361568 |
31 |
FLNA |
NM_001110556.2(FLNA):c.812del (p.Pro271fs) |
DEL |
Pathogenic
|
1070215 |
|
GRCh37: X:153595821-153595821 GRCh38: X:154367453-154367453 |
32 |
FLNA |
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) |
SNV |
Pathogenic
|
864458 |
rs2067760741 |
GRCh37: X:153594745-153594745 GRCh38: X:154366377-154366377 |
33 |
FLNA |
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) |
SNV |
Pathogenic
|
856285 |
rs1359141531 |
GRCh37: X:153582022-153582022 GRCh38: X:154353654-154353654 |
34 |
FLNA |
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) |
SNV |
Pathogenic
|
853726 |
rs2067763458 |
GRCh37: X:153594961-153594961 GRCh38: X:154366593-154366593 |
35 |
FLNA |
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) |
SNV |
Pathogenic
|
533562 |
rs1557177738 |
GRCh37: X:153588634-153588634 GRCh38: X:154360266-154360266 |
36 |
FLNA |
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs) |
DEL |
Pathogenic
|
1457183 |
|
GRCh37: X:153579964-153579967 GRCh38: X:154351596-154351599 |
37 |
FLNA |
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter) |
SNV |
Pathogenic
|
1457377 |
|
GRCh37: X:153593009-153593009 GRCh38: X:154364641-154364641 |
38 |
FLNA |
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter) |
SNV |
Pathogenic
|
1455761 |
|
GRCh37: X:153580261-153580261 GRCh38: X:154351893-154351893 |
39 |
FLNA |
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs) |
DUP |
Pathogenic
|
1399735 |
|
GRCh37: X:153578445-153578446 GRCh38: X:154350077-154350078 |
40 |
FLNA |
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter) |
SNV |
Pathogenic
|
1383677 |
|
GRCh37: X:153581201-153581201 GRCh38: X:154352833-154352833 |
41 |
FLNA |
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) |
SNV |
Pathogenic
|
11759 |
rs28935473 |
GRCh37: X:153588567-153588567 GRCh38: X:154360199-154360199 |
42 |
FLNA |
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) |
SNV |
Pathogenic
|
209154 |
rs797045044 |
GRCh37: X:153586596-153586596 GRCh38: X:154358228-154358228 |
43 |
FLNA |
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) |
SNV |
Pathogenic
|
11772 |
rs137853317 |
GRCh37: X:153596246-153596246 GRCh38: X:154367878-154367878 |
44 |
FLNA |
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) |
SNV |
Pathogenic
|
11756 |
rs28935470 |
GRCh37: X:153595873-153595873 GRCh38: X:154367505-154367505 |
45 |
FLNA |
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) |
SNV |
Pathogenic
|
11761 |
rs137853312 |
GRCh37: X:153588606-153588606 GRCh38: X:154360238-154360238 |
46 |
FLNA |
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) |
SNV |
Pathogenic
|
405445 |
rs1060500716 |
GRCh37: X:153588495-153588495 GRCh38: X:154360127-154360127 |
47 |
FLNA |
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) |
DEL |
Pathogenic
|
405447 |
rs1060500718 |
GRCh37: X:153581697-153581698 GRCh38: X:154353329-154353330 |
48 |
FLNA |
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) |
DEL |
Pathogenic
|
464997 |
rs1557177086 |
GRCh37: X:153585895-153585907 GRCh38: X:154357527-154357539 |
49 |
FLNA |
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) |
DUP |
Pathogenic
|
465027 |
rs1557179357 |
GRCh37: X:153594986-153594987 GRCh38: X:154366618-154366619 |
50 |
FLNA |
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) |
DEL |
Pathogenic
|
533585 |
rs1557177636 |
GRCh37: X:153588265-153588265 GRCh38: X:154359897-154359897 |