1 |
BRAT1 |
NC_000007.14:g.(?_2544889)_(2554451_?)del |
DEL |
Pathogenic
|
472924 |
|
GRCh37: 7:2584523-2594085 GRCh38: 7:2544889-2554451 |
2 |
BRAT1 |
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) |
DEL |
Pathogenic
|
472936 |
rs749240175 |
GRCh37: 7:2580939-2580940 GRCh38: 7:2541305-2541306 |
3 |
BRAT1 |
NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter) |
SNV |
Pathogenic
|
573854 |
rs1562596651 |
GRCh37: 7:2593961-2593961 GRCh38: 7:2554327-2554327 |
4 |
BRAT1 |
NM_152743.4(BRAT1):c.803G>A (p.Arg268His) |
SNV |
Pathogenic
|
429928 |
rs1131691679 |
GRCh37: 7:2583224-2583224 GRCh38: 7:2543590-2543590 |
5 |
BRAT1 |
NM_152743.4(BRAT1):c.171del (p.Glu57fs) |
DEL |
Pathogenic
|
559429 |
rs1554297097 |
GRCh37: 7:2587069-2587069 GRCh38: 7:2547435-2547435 |
6 |
BRAT1 |
NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) |
SNV |
Pathogenic
|
427101 |
rs1085307958 |
GRCh37: 7:2584554-2584554 GRCh38: 7:2544920-2544920 |
7 |
BRAT1 |
NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs) |
INSERT |
Pathogenic
|
180136 |
rs1554296088 |
GRCh37: 7:2583573-2583574 GRCh38: 7:2543939-2543940 |
8 |
BRAT1 |
NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro) |
SNV |
Pathogenic
|
180137 |
rs727505363 |
GRCh37: 7:2587064-2587064 GRCh38: 7:2547430-2547430 |
9 |
BRAT1 |
NM_152743.4(BRAT1):c.962_963del (p.Leu321fs) |
MICROSAT |
Pathogenic
|
180138 |
rs727505364 |
GRCh37: 7:2581806-2581807 GRCh38: 7:2542172-2542173 |
10 |
BRAT1 |
NM_152743.4(BRAT1):c.1177del (p.Ala393fs) |
DEL |
Pathogenic
|
180139 |
rs727505365 |
GRCh37: 7:2581076-2581076 GRCh38: 7:2541442-2541442 |
11 |
BRAT1 |
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter) |
SNV |
Pathogenic
|
434520 |
rs1554295159 |
GRCh37: 7:2581805-2581805 GRCh38: 7:2542171-2542171 |
12 |
BRAT1 |
NM_152743.4(BRAT1):c.1013dup (p.Gly339fs) |
DUP |
Pathogenic
|
647546 |
rs754341393 |
GRCh37: 7:2581755-2581756 GRCh38: 7:2542121-2542122 |
13 |
BRAT1 |
NC_000007.14:g.(?_2554285)_(2554451_?)del |
DEL |
Pathogenic
|
647953 |
|
GRCh37: 7:2593919-2594085 GRCh38: 7:2554285-2554451 |
14 |
BRAT1 |
NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs) |
INDEL |
Pathogenic
|
540176 |
rs1554293869 |
GRCh37: 7:2579211-2579232 GRCh38: 7:2539577-2539598 |
15 |
BRAT1 |
NC_000007.14:g.(?_2554305)_(2554431_?)del |
DEL |
Pathogenic
|
651803 |
|
GRCh37: 7:2593939-2594065 GRCh38: 7:2554305-2554431 |
16 |
BRAT1 |
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter) |
SNV |
Pathogenic
|
661637 |
rs759216914 |
GRCh37: 7:2578899-2578899 GRCh38: 7:2539265-2539265 |
17 |
BRAT1 |
NM_152743.4(BRAT1):c.398_405del (p.His133fs) |
DEL |
Pathogenic
|
842737 |
rs760389988 |
GRCh37: 7:2584568-2584575 GRCh38: 7:2544934-2544941 |
18 |
BRAT1 |
NM_152743.4(BRAT1):c.1492del (p.Leu498fs) |
DEL |
Pathogenic
|
848367 |
rs1779001773 |
GRCh37: 7:2579426-2579426 GRCh38: 7:2539792-2539792 |
19 |
BRAT1 |
NM_152743.4(BRAT1):c.1499-1G>T |
SNV |
Pathogenic
|
872930 |
rs1778987915 |
GRCh37: 7:2579277-2579277 GRCh38: 7:2539643-2539643 |
20 |
BRAT1 |
NM_152743.4(BRAT1):c.617T>A (p.Leu206Ter) |
SNV |
Pathogenic
|
1031685 |
rs762469913 |
GRCh37: 7:2583410-2583410 GRCh38: 7:2543776-2543776 |
21 |
BRAT1 |
NM_152743.4(BRAT1):c.1711C>T (p.Gln571Ter) |
SNV |
Pathogenic
|
1377471 |
|
GRCh37: 7:2578872-2578872 GRCh38: 7:2539238-2539238 |
22 |
BRAT1 |
NM_152743.4(BRAT1):c.920del (p.His307fs) |
DEL |
Pathogenic
|
1458549 |
|
GRCh37: 7:2582841-2582841 GRCh38: 7:2543207-2543207 |
23 |
BRAT1 |
NM_152743.4(BRAT1):c.2284C>T (p.Gln762Ter) |
SNV |
Pathogenic
|
1458796 |
|
GRCh37: 7:2577885-2577885 GRCh38: 7:2538251-2538251 |
24 |
BRAT1 |
NM_152743.4(BRAT1):c.1590del (p.Trp531fs) |
DEL |
Pathogenic
|
1452250 |
|
GRCh37: 7:2579185-2579185 GRCh38: 7:2539551-2539551 |
25 |
BRAT1 |
NM_152743.4(BRAT1):c.1007del (p.Gly336fs) |
DEL |
Pathogenic
|
1453640 |
|
GRCh37: 7:2581762-2581762 GRCh38: 7:2542128-2542128 |
26 |
BRAT1 |
NC_000007.13:g.(?_2584533)_(2594065_?)del |
DEL |
Pathogenic
|
1069574 |
|
GRCh37: 7:2584533-2594065 GRCh38: |
27 |
overlap with 2 genes |
NC_000007.13:g.(?_2559496)_(2594065_?)del |
DEL |
Pathogenic
|
1073449 |
|
GRCh37: 7:2559496-2594065 GRCh38: |
28 |
BRAT1 |
NM_152743.4(BRAT1):c.1203_1204del (p.Cys401_Asp402delinsTer) |
MICROSAT |
Pathogenic
|
426933 |
rs773772842 |
GRCh37: 7:2581049-2581050 GRCh38: 7:2541415-2541416 |
29 |
BRAT1 |
NM_152743.4(BRAT1):c.1083_1095del (p.Gly363fs) |
DEL |
Pathogenic
|
1356724 |
|
GRCh37: 7:2581391-2581403 GRCh38: 7:2541757-2541769 |
30 |
BRAT1 |
NM_152743.4(BRAT1):c.34del (p.Leu12fs) |
DEL |
Pathogenic
|
1393495 |
|
GRCh37: 7:2594032-2594032 GRCh38: 7:2554398-2554398 |
31 |
BRAT1 |
NC_000007.14:g.(?_2538049)_(2539371_?)del |
DEL |
Pathogenic
|
833357 |
|
GRCh37: 7:2577683-2579005 GRCh38: |
32 |
BRAT1 |
NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter) |
SNV |
Pathogenic
|
944680 |
rs1778980785 |
GRCh37: 7:2579199-2579199 GRCh38: 7:2539565-2539565 |
33 |
BRAT1 |
NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter) |
SNV |
Pathogenic
|
1070797 |
|
GRCh37: 7:2578815-2578815 GRCh38: 7:2539181-2539181 |
34 |
BRAT1 |
NM_152743.4(BRAT1):c.2023del (p.Tyr675fs) |
DEL |
Pathogenic
|
1072484 |
|
GRCh37: 7:2578146-2578146 GRCh38: 7:2538512-2538512 |
35 |
BRAT1 |
NM_152743.4(BRAT1):c.1823del (p.Pro608fs) |
DEL |
Pathogenic
|
1074999 |
|
GRCh37: 7:2578346-2578346 GRCh38: 7:2538712-2538712 |
36 |
BRAT1 |
NM_152743.4(BRAT1):c.1996_1997del (p.Leu666fs) |
DEL |
Pathogenic
|
1324687 |
|
GRCh37: 7:2578172-2578173 GRCh38: 7:2538538-2538539 |
37 |
BRAT1 |
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) |
SNV |
Pathogenic
|
202197 |
rs794729222 |
GRCh37: 7:2578312-2578312 GRCh38: 7:2538678-2538678 |
38 |
BRAT1 |
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs) |
MICROSAT |
Pathogenic
|
1073760 |
|
GRCh37: 7:2583573-2583574 GRCh38: 7:2543939-2543940 |
39 |
BRAT1 |
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) |
DEL |
Pathogenic
|
372962 |
rs763527391 |
GRCh37: 7:2578041-2578044 GRCh38: 7:2538407-2538410 |
40 |
BRAT1 |
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) |
DUP |
Pathogenic
|
279703 |
rs776913277 |
GRCh37: 7:2584678-2584679 GRCh38: 7:2545044-2545045 |
41 |
BRAT1 |
NM_152743.4(BRAT1):c.638dup (p.Val214fs) |
DUP |
Pathogenic
|
31199 |
rs730880324 |
GRCh37: 7:2583388-2583389 GRCh38: 7:2543754-2543755 |
42 |
BRAT1 |
NM_152743.4(BRAT1):c.1371_1395+16del |
DEL |
Pathogenic/Likely Pathogenic
|
654304 |
rs1224820591 |
GRCh37: 7:2580597-2580637 GRCh38: 7:2540963-2541003 |
43 |
BRAT1 |
NM_152743.4(BRAT1):c.1395+2T>A |
SNV |
Likely Pathogenic
|
848333 |
rs1779105755 |
GRCh37: 7:2580611-2580611 GRCh38: 7:2540977-2540977 |
44 |
BRAT1 |
NM_152743.4(BRAT1):c.1710del (p.Gln571fs) |
DEL |
Likely Pathogenic
|
817329 |
rs756489141 |
GRCh37: 7:2578873-2578873 GRCh38: 7:2539239-2539239 |
45 |
BRAT1 |
NM_152743.4(BRAT1):c.1322-2A>G |
SNV |
Likely Pathogenic
|
1491569 |
|
GRCh37: 7:2580688-2580688 GRCh38: 7:2541054-2541054 |
46 |
BRAT1 |
NM_152743.4(BRAT1):c.283-2A>T |
SNV |
Likely Pathogenic
|
650471 |
rs147005619 |
GRCh37: 7:2584692-2584692 GRCh38: 7:2545058-2545058 |
47 |
BRAT1 |
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
540162 |
rs371360176 |
GRCh37: 7:2581057-2581057 GRCh38: 7:2541423-2541423 |
48 |
BRAT1 |
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) |
DUP |
Conflicting Interpretations Of Pathogenicity
|
665075 |
rs1562582216 |
GRCh37: 7:2584550-2584551 GRCh38: 7:2544916-2544917 |
49 |
BRAT1 |
NM_152743.4(BRAT1):c.2291dup (p.Gly765fs) |
DUP |
Uncertain Significance
|
665862 |
rs1463777746 |
GRCh37: 7:2577877-2577878 GRCh38: 7:2538243-2538244 |
50 |
BRAT1 |
NC_000007.14:g.(?_2544889)_(2554451_?)dup |
DUP |
Uncertain Significance
|
830572 |
|
GRCh37: 7:2584523-2594085 GRCh38: |