1 |
CSRP3 |
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) |
SNV |
Pathogenic |
8777 |
rs104894204 |
11:19209792-19209792 |
11:19188245-19188245 |
2 |
CSRP3 |
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) |
SNV |
Pathogenic |
8781 |
rs137852765 |
11:19209828-19209828 |
11:19188281-19188281 |
3 |
CSRP3 |
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) |
Indel |
Pathogenic |
8779 |
rs281865416 |
11:19209800-19209804 |
11:19188253-19188257 |
4 |
CSRP3 |
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) |
SNV |
Pathogenic |
8778 |
rs104894205 |
11:19209833-19209833 |
11:19188286-19188286 |
5 |
CSRP3 |
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) |
SNV |
Pathogenic/Likely pathogenic |
8778 |
rs104894205 |
11:19209833-19209833 |
11:19188286-19188286 |
6 |
CSRP3 |
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) |
SNV |
Likely pathogenic |
163007 |
rs142019584 |
11:19204266-19204266 |
11:19182719-19182719 |
7 |
CSRP3 |
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) |
SNV |
Likely pathogenic |
219444 |
rs761507504 |
11:19206558-19206558 |
11:19185011-19185011 |
8 |
CSRP3 |
NM_003476.5(CSRP3):c.128del (p.Ala43fs) |
Deletion |
Likely pathogenic |
847161 |
|
11:19209836-19209836 |
11:19188289-19188289 |
9 |
CSRP3 |
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) |
SNV |
Uncertain significance |
851709 |
|
11:19207879-19207879 |
11:19186332-19186332 |
10 |
CSRP3 |
NM_003476.5(CSRP3):c.174C>T (p.Cys58=) |
SNV |
Uncertain significance |
381101 |
rs1057520959 |
11:19209790-19209790 |
11:19188243-19188243 |
11 |
CSRP3 |
NM_003476.5(CSRP3):c.455_456AG[1] (p.Leu154fs) |
Microsatellite |
Uncertain significance |
855956 |
|
11:19206549-19206550 |
11:19185002-19185003 |
12 |
CSRP3 |
NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser) |
SNV |
Uncertain significance |
858415 |
|
11:19207891-19207891 |
11:19186344-19186344 |
13 |
CSRP3 |
NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu) |
SNV |
Uncertain significance |
859311 |
|
11:19213979-19213979 |
11:19192432-19192432 |
14 |
CSRP3 |
NM_003476.5(CSRP3):c.228C>T (p.Gly76=) |
SNV |
Uncertain significance |
861575 |
|
11:19209736-19209736 |
11:19188189-19188189 |
15 |
CSRP3 |
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) |
SNV |
Uncertain significance |
863545 |
|
11:19207893-19207893 |
11:19186346-19186346 |
16 |
CSRP3 |
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) |
SNV |
Uncertain significance |
426380 |
rs376198883 |
11:19206571-19206571 |
11:19185024-19185024 |
17 |
CSRP3 |
NC_000011.10:g.(?_19184942)_(19188314_?)del |
Deletion |
Uncertain significance |
831881 |
|
11:19206489-19209861 |
|
18 |
CSRP3 |
NM_003476.5(CSRP3):c.415-1G>A |
SNV |
Uncertain significance |
834445 |
|
11:19206593-19206593 |
11:19185046-19185046 |
19 |
CSRP3 |
NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser) |
SNV |
Uncertain significance |
835944 |
|
11:19209837-19209837 |
11:19188290-19188290 |
20 |
CSRP3 |
NM_003476.5(CSRP3):c.112+1G>A |
SNV |
Uncertain significance |
222534 |
rs746990436 |
11:19213883-19213883 |
11:19192336-19192336 |
21 |
CSRP3 |
NM_003476.5(CSRP3):c.514T>C (p.Tyr172His) |
SNV |
Uncertain significance |
836572 |
|
11:19204288-19204288 |
11:19182741-19182741 |
22 |
CSRP3 |
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) |
SNV |
Uncertain significance |
836666 |
|
11:19207808-19207808 |
11:19186261-19186261 |
23 |
CSRP3 |
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) |
SNV |
Uncertain significance |
228543 |
rs876657767 |
11:19207823-19207823 |
11:19186276-19186276 |
24 |
CSRP3 |
NM_003476.5(CSRP3):c.518C>T (p.Ala173Val) |
SNV |
Uncertain significance |
842508 |
|
11:19204284-19204284 |
11:19182737-19182737 |
25 |
CSRP3 |
NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe) |
SNV |
Uncertain significance |
846160 |
|
11:19206562-19206562 |
11:19185015-19185015 |
26 |
CSRP3 |
NC_000011.10:g.19210543G>A |
SNV |
Uncertain significance |
877187 |
|
11:19232090-19232090 |
11:19210543-19210543 |
27 |
CSRP3 |
NM_003476.5(CSRP3):c.*559G>A |
SNV |
Uncertain significance |
878158 |
|
11:19203658-19203658 |
11:19182111-19182111 |
28 |
CSRP3 |
NM_003476.5(CSRP3):c.*415A>G |
SNV |
Uncertain significance |
878159 |
|
11:19203802-19203802 |
11:19182255-19182255 |
29 |
CSRP3 |
NM_003476.5(CSRP3):c.*292A>T |
SNV |
Uncertain significance |
878160 |
|
11:19203925-19203925 |
11:19182378-19182378 |
30 |
CSRP3 |
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) |
SNV |
Uncertain significance |
44694 |
rs138218523 |
11:19207878-19207878 |
11:19186331-19186331 |
31 |
CSRP3 |
NM_003476.5(CSRP3):c.282-15G>C |
SNV |
Uncertain significance |
879980 |
|
11:19207910-19207910 |
11:19186363-19186363 |
32 |
CSRP3 |
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) |
SNV |
Uncertain significance |
163012 |
rs367827746 |
11:19209699-19209699 |
11:19188152-19188152 |
33 |
CSRP3 |
NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu) |
SNV |
Uncertain significance |
879981 |
|
11:19209743-19209743 |
11:19188196-19188196 |
34 |
CSRP3 |
NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp) |
SNV |
Uncertain significance |
879982 |
|
11:19209750-19209750 |
11:19188203-19188203 |
35 |
CSRP3 |
NM_003476.5(CSRP3):c.162G>A (p.Ser54=) |
SNV |
Uncertain significance |
137035 |
rs112848043 |
11:19209802-19209802 |
11:19188255-19188255 |
36 |
CSRP3 |
NM_003476.5(CSRP3):c.-28-17G>T |
SNV |
Uncertain significance |
930263 |
|
11:19214040-19214040 |
11:19192493-19192493 |
37 |
CSRP3 |
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) |
SNV |
Uncertain significance |
934985 |
|
11:19209815-19209815 |
11:19188268-19188268 |
38 |
CSRP3 |
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) |
SNV |
Uncertain significance |
944590 |
|
11:19209796-19209796 |
11:19188249-19188249 |
39 |
CSRP3 |
NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys) |
SNV |
Uncertain significance |
950593 |
|
11:19207768-19207768 |
11:19186221-19186221 |
40 |
CSRP3 |
NM_003476.5(CSRP3):c.93C>G (p.His31Gln) |
SNV |
Uncertain significance |
217825 |
rs863225265 |
11:19213903-19213903 |
11:19192356-19192356 |
41 |
CSRP3 |
NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) |
SNV |
Uncertain significance |
958665 |
|
11:19209699-19209699 |
11:19188152-19188152 |
42 |
CSRP3 |
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) |
SNV |
Uncertain significance |
960236 |
|
11:19209815-19209815 |
11:19188268-19188268 |
43 |
CSRP3 |
NM_003476.5(CSRP3):c.285C>A (p.Ser95=) |
SNV |
Uncertain significance |
962276 |
|
11:19207892-19207892 |
11:19186345-19186345 |
44 |
CSRP3 |
NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile) |
SNV |
Uncertain significance |
963688 |
|
11:19207866-19207866 |
11:19186319-19186319 |
45 |
CSRP3 |
NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg) |
SNV |
Uncertain significance |
963816 |
|
11:19206548-19206548 |
11:19185001-19185001 |
46 |
CSRP3 |
NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly) |
SNV |
Uncertain significance |
968411 |
|
11:19209848-19209848 |
11:19188301-19188301 |
47 |
CSRP3 |
NM_003476.5(CSRP3):c.562_564CAA[1] (p.Gln189del) |
Microsatellite |
Uncertain significance |
451189 |
rs1173035411 |
11:19204235-19204237 |
11:19182688-19182690 |
48 |
CSRP3 |
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) |
SNV |
Uncertain significance |
163007 |
rs142019584 |
11:19204266-19204266 |
11:19182719-19182719 |
49 |
CSRP3 |
NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) |
SNV |
Uncertain significance |
404174 |
rs45531937 |
11:19213974-19213974 |
11:19192427-19192427 |
50 |
CSRP3 |
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) |
SNV |
Uncertain significance |
8776 |
rs45550635 |
11:19213986-19213986 |
11:19192439-19192439 |