1 |
FLNA |
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) |
SNV |
Pathogenic |
11776 |
rs267606815 |
X:153593006-153593006 |
X:154364638-154364638 |
2 |
FLNA |
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) |
SNV |
Pathogenic |
11777 |
rs267606816 |
X:153595771-153595771 |
X:154367403-154367403 |
3 |
FLNA |
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) |
SNV |
Pathogenic |
11778 |
rs267606817 |
X:153592631-153592631 |
X:154364263-154364263 |
4 |
FLNA |
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG |
Indel |
Pathogenic |
11779 |
|
X:153590180-153592124 |
X:154361812-154363756 |
5 |
FLNA |
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) |
SNV |
Pathogenic |
11770 |
rs80338841 |
X:153592993-153592993 |
X:154364625-154364625 |
6 |
FLNA |
NM_001110556.2(FLNA):c.1829-1G>C |
SNV |
Pathogenic |
635974 |
rs1603362402 |
X:153593088-153593088 |
X:154364720-154364720 |
7 |
FLNA |
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) |
SNV |
Pathogenic |
931568 |
|
X:153593006-153593006 |
X:154364638-154364638 |
8 |
FLNA |
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) |
SNV |
Likely pathogenic |
931351 |
|
X:153592992-153592992 |
X:154364624-154364624 |
9 |
FLNA |
NM_001110556.2(FLNA):c.4750_4755+18del |
Deletion |
Likely pathogenic |
871720 |
|
X:153586549-153586572 |
X:154358181-154358204 |
10 |
FLNA |
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) |
SNV |
Likely pathogenic |
635975 |
rs1603360542 |
X:153586662-153586662 |
X:154358294-154358294 |
11 |
FLNA |
NM_001110556.2(FLNA):c.622+5G>C |
SNV |
Likely pathogenic |
930545 |
|
X:153596205-153596205 |
X:154367837-154367837 |
12 |
FLNA |
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) |
SNV |
Likely pathogenic |
209154 |
rs797045044 |
X:153586596-153586596 |
X:154358228-154358228 |
13 |
FLNA |
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) |
SNV |
Uncertain significance |
435209 |
rs782240483 |
X:153596371-153596371 |
X:154368003-154368003 |
14 |
FLNA |
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) |
SNV |
Uncertain significance |
930326 |
|
X:153590884-153590884 |
X:154362516-154362516 |
15 |
FLNA |
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) |
SNV |
Uncertain significance |
548502 |
rs1557179648 |
X:153596286-153596286 |
X:154367918-154367918 |
16 |
LOC107988032 |
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) |
SNV |
Uncertain significance |
392335 |
|
X:153577858-153577858 |
X:154349490-154349490 |
17 |
FLNA |
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) |
SNV |
Uncertain significance |
465015 |
rs782275601 |
X:153580296-153580296 |
X:154351928-154351928 |
18 |
FLNA |
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) |
SNV |
Uncertain significance |
435203 |
rs781984274 |
X:153580593-153580593 |
X:154352225-154352225 |
19 |
FLNA |
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) |
SNV |
Uncertain significance |
211024 |
rs797045581 |
X:153580599-153580599 |
X:154352231-154352231 |
20 |
FLNA |
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) |
SNV |
Uncertain significance |
533577 |
rs782400832 |
X:153581143-153581143 |
X:154352775-154352775 |
21 |
FLNA |
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) |
SNV |
Uncertain significance |
432226 |
rs1297013254 |
X:153592416-153592416 |
X:154364048-154364048 |
22 |
FLNA |
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) |
SNV |
Uncertain significance |
198133 |
rs192609440 |
X:153595186-153595186 |
X:154366818-154366818 |
23 |
FLNA |
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) |
SNV |
Uncertain significance |
213491 |
rs782447567 |
X:153596263-153596263 |
X:154367895-154367895 |
24 |
FLNA |
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) |
SNV |
Uncertain significance |
625948 |
rs1557177412 |
X:153587512-153587512 |
X:154359144-154359144 |
25 |
FLNA |
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) |
SNV |
Uncertain significance |
588552 |
rs782445995 |
X:153589909-153589909 |
X:154361541-154361541 |
26 |
FLNA |
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) |
SNV |
Uncertain significance |
625949 |
rs1448428046 |
X:153591069-153591069 |
X:154362701-154362701 |
27 |
FLNA |
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) |
SNV |
Uncertain significance |
625950 |
rs1569551838 |
X:153594700-153594700 |
X:154366332-154366332 |
28 |
FLNA |
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) |
SNV |
Uncertain significance |
93756 |
rs371677498 |
X:153588840-153588840 |
X:154360472-154360472 |
29 |
FLNA |
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) |
SNV |
Uncertain significance |
625951 |
rs1569551874 |
X:153596338-153596338 |
X:154367970-154367970 |
30 |
FLNA |
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) |
SNV |
Uncertain significance |
931380 |
|
X:153588472-153588472 |
X:154360104-154360104 |
31 |
FLNA |
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) |
SNV |
Uncertain significance |
931632 |
|
X:153587652-153587652 |
X:154359284-154359284 |
32 |
FLNA |
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) |
SNV |
not provided |
440936 |
rs1557178957 |
X:153593624-153593624 |
X:154365256-154365256 |