1 |
BRAT1 |
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter) |
SNV |
Pathogenic |
434520 |
rs1554295159 |
7:2581805-2581805 |
7:2542171-2542171 |
2 |
BRAT1 |
NC_000007.14:g.(?_2544889)_(2554451_?)del |
deletion |
Pathogenic |
472924 |
|
|
7:2544889-2554451 |
3 |
BRAT1 |
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) |
deletion |
Pathogenic |
472936 |
rs749240175 |
7:2580939-2580940 |
7:2541305-2541306 |
4 |
BRAT1 |
NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs) |
indel |
Pathogenic |
540176 |
rs1554293869 |
7:2579211-2579232 |
7:2539577-2539598 |
5 |
BRAT1 |
NM_152743.4(BRAT1):c.171del (p.Glu57fs) |
deletion |
Pathogenic |
559429 |
rs1554297097 |
7:2587069-2587069 |
7:2547435-2547435 |
6 |
BRAT1 |
NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter) |
SNV |
Pathogenic |
573854 |
rs1562596651 |
7:2593961-2593961 |
7:2554327-2554327 |
7 |
BRAT1 |
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter) |
SNV |
Pathogenic |
661637 |
|
7:2578899-2578899 |
7:2539265-2539265 |
8 |
BRAT1 |
NM_152743.4(BRAT1):c.1013dup (p.Gly339fs) |
duplication |
Pathogenic |
647546 |
|
7:2581755-2581756 |
7:2542121-2542122 |
9 |
BRAT1 |
NC_000007.14:g.(?_2554305)_(2554431_?)del |
deletion |
Pathogenic |
651803 |
|
7:2593939-2594065 |
7:2554305-2554431 |
10 |
BRAT1 |
NC_000007.14:g.(?_2554285)_(2554451_?)del |
deletion |
Pathogenic |
647953 |
|
7:2593919-2594085 |
7:2554285-2554451 |
11 |
BRAT1 |
NC_000007.14:g.(?_2538049)_(2539371_?)del |
deletion |
Pathogenic |
833357 |
|
7:2577683-2579005 |
|
12 |
BRAT1 |
NM_152743.4(BRAT1):c.1492del (p.Leu498fs) |
deletion |
Pathogenic |
848367 |
|
7:2579426-2579426 |
7:2539792-2539792 |
13 |
BRAT1 |
NM_152743.4(BRAT1):c.398_405del (p.His133fs) |
deletion |
Pathogenic |
842737 |
|
7:2584568-2584575 |
7:2544934-2544941 |
14 |
BRAT1 |
NM_152743.4(BRAT1):c.638dup (p.Val214fs) |
duplication |
Pathogenic |
31199 |
rs730880324 |
7:2583388-2583389 |
7:2543754-2543755 |
15 |
BRAT1 |
NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs) |
insertion |
Pathogenic |
180136 |
rs1554296088 |
7:2583573-2583574 |
7:2543939-2543940 |
16 |
BRAT1 |
NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro) |
SNV |
Pathogenic |
180137 |
rs727505363 |
7:2587064-2587064 |
7:2547430-2547430 |
17 |
BRAT1 |
NM_152743.4(BRAT1):c.960_961TC[1] (p.Leu321fs) |
short repeat |
Pathogenic |
180138 |
rs727505364 |
7:2581806-2581807 |
7:2542172-2542173 |
18 |
BRAT1 |
NM_152743.4(BRAT1):c.1177del (p.Ala393fs) |
deletion |
Pathogenic |
180139 |
rs727505365 |
7:2581076-2581076 |
7:2541442-2541442 |
19 |
BRAT1 |
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) |
SNV |
Pathogenic |
202197 |
rs794729222 |
7:2578312-2578312 |
7:2538678-2538678 |
20 |
BRAT1 |
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) |
duplication |
Pathogenic |
279703 |
rs776913277 |
7:2584678-2584679 |
7:2545044-2545045 |
21 |
BRAT1 |
NM_152743.4(BRAT1):c.803G>A (p.Arg268His) |
SNV |
Pathogenic/Likely pathogenic |
429928 |
rs1131691679 |
7:2583224-2583224 |
7:2543590-2543590 |
22 |
BRAT1 |
NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) |
SNV |
Likely pathogenic |
427101 |
rs1085307958 |
7:2584554-2584554 |
7:2544920-2544920 |
23 |
BRAT1 |
NM_152743.4(BRAT1):c.283-2A>T |
SNV |
Likely pathogenic |
650471 |
|
7:2584692-2584692 |
7:2545058-2545058 |
24 |
BRAT1 |
NM_152743.4(BRAT1):c.1395+2T>A |
SNV |
Likely pathogenic |
848333 |
|
7:2580611-2580611 |
7:2540977-2540977 |
25 |
BRAT1 |
NM_152743.4(BRAT1):c.1371_1395+16del |
deletion |
Likely pathogenic |
654304 |
|
7:2580597-2580637 |
7:2540963-2541003 |
26 |
BRAT1 |
NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp) |
SNV |
Conflicting interpretations of pathogenicity |
265048 |
rs886039312 |
7:2578344-2578344 |
7:2538710-2538710 |
27 |
BRAT1 |
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) |
deletion |
Conflicting interpretations of pathogenicity |
372962 |
rs763527391 |
7:2578041-2578044 |
7:2538407-2538410 |
28 |
BRAT1 |
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) |
SNV |
Conflicting interpretations of pathogenicity |
377362 |
rs145833100 |
7:2578128-2578128 |
7:2538494-2538494 |
29 |
BRAT1 |
NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu) |
SNV |
Conflicting interpretations of pathogenicity |
449963 |
rs200502048 |
7:2578244-2578244 |
7:2538610-2538610 |
30 |
BRAT1 |
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) |
SNV |
Conflicting interpretations of pathogenicity |
445886 |
rs61729932 |
7:2577816-2577816 |
7:2538182-2538182 |
31 |
BRAT1 |
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) |
SNV |
Conflicting interpretations of pathogenicity |
446895 |
rs61753094 |
7:2578341-2578341 |
7:2538707-2538707 |
32 |
BRAT1 |
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) |
SNV |
Conflicting interpretations of pathogenicity |
472946 |
rs147745609 |
7:2579268-2579268 |
7:2539634-2539634 |
33 |
BRAT1 |
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val) |
SNV |
Conflicting interpretations of pathogenicity |
540180 |
rs140833277 |
7:2583593-2583593 |
7:2543959-2543959 |
34 |
BRAT1 |
NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly) |
SNV |
Uncertain significance |
540171 |
rs773571503 |
7:2577840-2577840 |
7:2538206-2538206 |
35 |
BRAT1 |
NM_152743.4(BRAT1):c.1067C>T (p.Ala356Val) |
SNV |
Uncertain significance |
540150 |
rs912690370 |
7:2581419-2581419 |
7:2541785-2541785 |
36 |
BRAT1 |
NM_152743.4(BRAT1):c.883A>G (p.Met295Val) |
SNV |
Uncertain significance |
540153 |
rs151317339 |
7:2582878-2582878 |
7:2543244-2543244 |
37 |
BRAT1 |
NM_152743.4(BRAT1):c.2170C>G (p.Leu724Val) |
SNV |
Uncertain significance |
472962 |
rs751042897 |
7:2577999-2577999 |
7:2538365-2538365 |
38 |
BRAT1 |
NM_152743.4(BRAT1):c.511G>C (p.Val171Leu) |
SNV |
Uncertain significance |
472970 |
rs769663853 |
7:2583516-2583516 |
7:2543882-2543882 |
39 |
BRAT1 |
NM_152743.4(BRAT1):c.1804G>A (p.Val602Ile) |
SNV |
Uncertain significance |
540177 |
rs532881368 |
7:2578365-2578365 |
7:2538731-2538731 |
40 |
BRAT1 |
NM_152743.4(BRAT1):c.1472G>C (p.Gly491Ala) |
SNV |
Uncertain significance |
540167 |
rs762040027 |
7:2579446-2579446 |
7:2539812-2539812 |
41 |
BRAT1 |
NM_152743.4(BRAT1):c.1351G>T (p.Ala451Ser) |
SNV |
Uncertain significance |
540160 |
rs138276986 |
7:2580657-2580657 |
7:2541023-2541023 |
42 |
BRAT1 |
NM_152743.4(BRAT1):c.1395+5G>A |
SNV |
Uncertain significance |
540170 |
rs778208704 |
7:2580608-2580608 |
7:2540974-2540974 |
43 |
BRAT1 |
NM_152743.4(BRAT1):c.1384T>C (p.Ser462Pro) |
SNV |
Uncertain significance |
540157 |
rs761704986 |
7:2580624-2580624 |
7:2540990-2540990 |
44 |
BRAT1 |
NM_152743.4(BRAT1):c.2068G>A (p.Glu690Lys) |
SNV |
Uncertain significance |
540168 |
rs745828770 |
7:2578101-2578101 |
7:2538467-2538467 |
45 |
BRAT1 |
NM_152743.4(BRAT1):c.1498G>C (p.Glu500Gln) |
SNV |
Uncertain significance |
540161 |
rs1554293972 |
7:2579420-2579420 |
7:2539786-2539786 |
46 |
BRAT1 |
NM_152743.4(BRAT1):c.871G>A (p.Gly291Ser) |
SNV |
Uncertain significance |
540156 |
rs764583480 |
7:2582890-2582890 |
7:2543256-2543256 |
47 |
BRAT1 |
NM_152743.4(BRAT1):c.32C>A (p.Ala11Asp) |
SNV |
Uncertain significance |
540166 |
rs768798947 |
7:2594034-2594034 |
7:2554400-2554400 |
48 |
BRAT1 |
NM_152743.4(BRAT1):c.2377G>A (p.Asp793Asn) |
SNV |
Uncertain significance |
540149 |
rs759036645 |
7:2577792-2577792 |
7:2538158-2538158 |
49 |
BRAT1 |
NM_152743.4(BRAT1):c.2240C>T (p.Ser747Phe) |
SNV |
Uncertain significance |
540164 |
rs923807425 |
7:2577929-2577929 |
7:2538295-2538295 |
50 |
BRAT1 |
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val) |
SNV |
Uncertain significance |
540163 |
rs140802292 |
7:2578022-2578022 |
7:2538388-2538388 |