1 |
CCM2 |
NM_031443.4(CCM2):c.610-1G>A |
SNV |
Pathogenic
|
590663 |
rs1562913873 |
GRCh37: 7:45109424-45109424 GRCh38: 7:45069825-45069825 |
2 |
CCM2 |
NM_031443.4(CCM2):c.1A>G (p.Met1Val) |
SNV |
Pathogenic
|
2684 |
rs137852842 |
GRCh37: 7:45039933-45039933 GRCh38: 7:45000334-45000334 |
3 |
CCM2 |
NM_031443.4(CCM2):c.288+1G>A |
SNV |
Pathogenic
|
2685 |
rs1562906981 |
GRCh37: 7:45103601-45103601 GRCh38: 7:45064002-45064002 |
4 |
CCM2 |
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg) |
SNV |
Pathogenic
|
2686 |
rs137852843 |
GRCh37: 7:45108162-45108162 GRCh38: 7:45068563-45068563 |
5 |
CCM2 |
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) |
MICROSAT |
Pathogenic
|
585627 |
rs1562921605 |
GRCh37: 7:45115569-45115570 GRCh38: 7:45075970-45075971 |
6 |
CCM2 |
nsv513784 |
DEL |
Pathogenic
|
2688 |
|
GRCh37: GRCh38: |
7 |
CCM2 |
7p13 deletion (77.6 kb) |
DEL |
Pathogenic
|
253004 |
|
GRCh37: GRCh38: |
8 |
CCM2 |
NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) |
INSERT |
Pathogenic
|
468336 |
rs1554365511 |
GRCh37: 7:45077863-45077864 GRCh38: 7:45038264-45038265 |
9 |
CCM2 |
NC_000007.14:g.(?_45038253)_(45076470_?)del |
DEL |
Pathogenic
|
468334 |
|
GRCh37: 7:45077852-45116069 GRCh38: 7:45038253-45076470 |
10 |
overlap with 3 genes |
NC_000007.14:g.(?_45027705)_(45086112_?)del |
DEL |
Pathogenic
|
584080 |
|
GRCh37: 7:45067304-45125711 GRCh38: 7:45027705-45086112 |
11 |
CCM2 |
NM_031443.4(CCM2):c.970G>T (p.Glu324Ter) |
SNV |
Pathogenic
|
862971 |
rs756276859 |
GRCh37: 7:45113923-45113923 GRCh38: 7:45074324-45074324 |
12 |
CCM2 |
NM_031443.4(CCM2):c.130_131del (p.Thr44fs) |
MICROSAT |
Pathogenic
|
952312 |
rs1797324598 |
GRCh37: 7:45077948-45077949 GRCh38: 7:45038349-45038350 |
13 |
CCM2 |
NM_031443.4(CCM2):c.643C>T (p.Gln215Ter) |
SNV |
Pathogenic
|
1030944 |
rs1798970889 |
GRCh37: 7:45109458-45109458 GRCh38: 7:45069859-45069859 |
14 |
CCM2 |
NC_000007.13:g.(?_45067284)_(45115676_?)del |
DEL |
Pathogenic
|
1076241 |
|
GRCh37: 7:45067284-45115676 GRCh38: |
15 |
CCM2 |
NM_031443.4(CCM2):c.214C>T (p.Gln72Ter) |
SNV |
Pathogenic
|
279739 |
rs886041157 |
GRCh37: 7:45103526-45103526 GRCh38: 7:45063927-45063927 |
16 |
CCM2 |
NM_031443.4(CCM2):c.93del (p.Ala32fs) |
DEL |
Pathogenic
|
1383573 |
|
GRCh37: 7:45077912-45077912 GRCh38: 7:45038313-45038313 |
17 |
CCM2 |
NM_031443.4(CCM2):c.528_532del (p.Leu177fs) |
DEL |
Pathogenic
|
1415667 |
|
GRCh37: 7:45108097-45108101 GRCh38: 7:45068498-45068502 |
18 |
CCM2 |
NM_031443.4(CCM2):c.473-2A>G |
SNV |
Pathogenic
|
1400162 |
|
GRCh37: 7:45108040-45108040 GRCh38: 7:45068441-45068441 |
19 |
CCM2 |
NC_000007.13:g.(?_45039933)_(45039982_?)del |
DEL |
Pathogenic
|
1427461 |
|
GRCh37: 7:45039933-45039982 GRCh38: |
20 |
CCM2 |
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) |
SNV |
Pathogenic
|
590650 |
rs1562882049 |
GRCh37: 7:45077990-45077990 GRCh38: 7:45038391-45038391 |
21 |
CCM2 |
NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter) |
SNV |
Pathogenic
|
857759 |
rs765548101 |
GRCh37: 7:45104127-45104127 GRCh38: 7:45064528-45064528 |
22 |
CCM2 |
NM_031443.4(CCM2):c.151G>T (p.Glu51Ter) |
SNV |
Pathogenic
|
1076028 |
|
GRCh37: 7:45077972-45077972 GRCh38: 7:45038373-45038373 |
23 |
CCM2 |
NM_031443.4(CCM2):c.402_405dup (p.Ile136fs) |
DUP |
Pathogenic
|
661878 |
rs1583970495 |
GRCh37: 7:45104174-45104175 GRCh38: 7:45064575-45064576 |
24 |
CCM2 |
NM_031443.4(CCM2):c.1234dup (p.Arg412fs) |
DUP |
Pathogenic
|
590645 |
rs1331484727 |
GRCh37: 7:45115553-45115554 GRCh38: 7:45075954-45075955 |
25 |
CCM2 |
NM_031443.4(CCM2):c.30G>A (p.Lys10=) |
SNV |
Pathogenic
|
662968 |
rs1583819255 |
GRCh37: 7:45039962-45039962 GRCh38: 7:45000363-45000363 |
26 |
CCM2 |
NM_031443.4(CCM2):c.228dup (p.Pro77fs) |
DUP |
Pathogenic
|
1070815 |
|
GRCh37: 7:45103539-45103540 GRCh38: 7:45063940-45063941 |
27 |
CCM2 |
NM_031443.4(CCM2):c.83_87del (p.Arg28fs) |
DEL |
Pathogenic
|
1458144 |
|
GRCh37: 7:45077904-45077908 GRCh38: 7:45038305-45038309 |
28 |
CCM2 |
NM_031443.4(CCM2):c.298C>T (p.Gln100Ter) |
SNV |
Pathogenic
|
1366649 |
|
GRCh37: 7:45104071-45104071 GRCh38: 7:45064472-45064472 |
29 |
CCM2 |
NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer) |
DUP |
Pathogenic
|
1456955 |
|
GRCh37: 7:45115390-45115391 GRCh38: 7:45075791-45075792 |
30 |
CCM2 |
NM_031443.4(CCM2):c.23del (p.Gly8fs) |
DEL |
Pathogenic
|
2680 |
rs1562848466 |
GRCh37: 7:45039953-45039953 GRCh38: 7:45000354-45000354 |
31 |
CCM2 |
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter) |
SNV |
Pathogenic
|
2681 |
rs137852841 |
GRCh37: 7:45104092-45104092 GRCh38: 7:45064493-45064493 |
32 |
CCM2 |
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) |
SNV |
Pathogenic
|
447028 |
rs755800734 |
GRCh37: 7:45077876-45077876 GRCh38: 7:45038277-45038277 |
33 |
CCM2 |
NM_031443.4(CCM2):c.30+1G>A |
SNV |
Pathogenic
|
590655 |
rs1562848479 |
GRCh37: 7:45039963-45039963 GRCh38: 7:45000364-45000364 |
34 |
CCM2 |
NM_031443.4(CCM2):c.745+1G>C |
SNV |
Pathogenic
|
650894 |
rs1583984070 |
GRCh37: 7:45109561-45109561 GRCh38: 7:45069962-45069962 |
35 |
CCM2 |
NM_031443.4(CCM2):c.219_220del (p.Leu73fs) |
DEL |
Pathogenic
|
570247 |
rs1562906798 |
GRCh37: 7:45103531-45103532 GRCh38: 7:45063932-45063933 |
36 |
CCM2 |
NC_000007.14:g.(?_45038233)_(45038446_?)del |
DEL |
Pathogenic
|
832896 |
|
GRCh37: 7:45077832-45078045 GRCh38: |
37 |
CCM2 |
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter) |
SNV |
Pathogenic
|
838138 |
rs1437280900 |
GRCh37: 7:45113094-45113094 GRCh38: 7:45073495-45073495 |
38 |
CCM2 |
NM_031443.4(CCM2):c.745+2T>C |
SNV |
Pathogenic
|
963406 |
rs1798979994 |
GRCh37: 7:45109562-45109562 GRCh38: 7:45069963-45069963 |
39 |
CCM2 |
NM_031443.4(CCM2):c.289-1G>A |
SNV |
Pathogenic
|
590652 |
rs1562907365 |
GRCh37: 7:45104061-45104061 GRCh38: 7:45064462-45064462 |
40 |
CCM2 |
NC_000007.13:g.(?_45109405)_(45109580_?)del |
DEL |
Pathogenic
|
1355285 |
|
GRCh37: 7:45109405-45109580 GRCh38: |
41 |
CCM2 |
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) |
SNV |
Pathogenic
|
849329 |
rs767248510 |
GRCh37: 7:45115399-45115399 GRCh38: 7:45075800-45075800 |
42 |
CCM2 |
NM_031443.4(CCM2):c.30+5_30+6delinsTT |
INDEL |
Pathogenic
|
193463 |
rs797044623 |
GRCh37: 7:45039967-45039968 GRCh38: 7:45000368-45000369 |
43 |
CCM2 |
NM_031443.4(CCM2):c.169_172del (p.Arg57fs) |
MICROSAT |
Pathogenic
|
590649 |
rs1562882045 |
GRCh37: 7:45077985-45077988 GRCh38: 7:45038386-45038389 |
44 |
CCM2 |
NM_031443.4(CCM2):c.305dup (p.His104fs) |
DUP |
Pathogenic
|
1330532 |
|
GRCh37: 7:45104076-45104077 GRCh38: 7:45064477-45064478 |
45 |
CCM2 |
NM_031443.4(CCM2):c.71del (p.Gly24fs) |
DEL |
Pathogenic
|
618554 |
rs1562881854 |
GRCh37: 7:45077891-45077891 GRCh38: 7:45038292-45038292 |
46 |
CCM2 |
NM_031443.4(CCM2):c.472+1G>C |
SNV |
Pathogenic/Likely Pathogenic
|
974868 |
rs745710633 |
GRCh37: 7:45104246-45104246 GRCh38: 7:45064647-45064647 |
47 |
CCM2 |
NM_031443.4(CCM2):c.7G>T (p.Glu3Ter) |
SNV |
Likely Pathogenic
|
873433 |
rs1795541254 |
GRCh37: 7:45039939-45039939 GRCh38: 7:45000340-45000340 |
48 |
CCM2 |
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg) |
SNV |
Likely Pathogenic
|
562020 |
rs1562912426 |
GRCh37: 7:45108153-45108153 GRCh38: 7:45068554-45068554 |
49 |
CCM2 |
NM_031443.4(CCM2):c.31-2A>G |
SNV |
Likely Pathogenic
|
468335 |
rs1554365507 |
GRCh37: 7:45077850-45077850 GRCh38: 7:45038251-45038251 |
50 |
CCM2 |
NM_031443.4(CCM2):c.635T>C (p.Leu212Pro) |
SNV |
Likely Pathogenic
|
468338 |
rs1554377652 |
GRCh37: 7:45109450-45109450 GRCh38: 7:45069851-45069851 |