CEBPA mutations and predicted effects
Pt no. . | BP change . | AA change . | Predicted effect . |
---|---|---|---|
1 | 322-323insT | Y108fsX169 | N-terminal Stop |
2 | 317-320dup | D107fsX108 | N-terminal Stop |
915-938dup | R306-K313dup | In-frame duplication in bZip | |
3 | 312-313insCAGCTTC | G104fsX109 | N-terminal Stop |
950-951insTCT | L317-T318insL | In-frame insertion in bZip | |
4 | 68del | P23fsX159 | N-terminal Stop |
936-938dup | K313dup | In-frame duplication in bZip | |
5 | 258-259delinsAT | Q87X | N-terminal Stop |
915-938dup | R306-K313dup | In-frame duplication in bZip | |
6 | 68-78del | P23fsX103 | N-terminal Stop |
893-928dup | K298-E309dup | In-frame duplication in bZip | |
7 | 270del | K90fsX159 | N-terminal Stop |
976-977insCGCTGGGAA | K326TinsLGK | In-frame insertion in bZip | |
8 | 68del | P23fsX159 | N-terminal Stop |
921-938dup | V308-K313dup | In-frame duplication in bZip | |
9 | 123-124insGC | G54fsX160 | N-terminal Stop |
914-916dup | Q105dup | In-frame duplication in bZip | |
10 | 68-69insC | P23fsX107 | N-terminal Stop |
893-928dup | K298-E309dup | In-frame duplication in bZip | |
11 | 258-259delinsAT | Q87X | N-terminal Stop |
936-938dup | K313dup | In-frame duplication in bZip | |
12 | 59-60dup | S60fsX160 | N-terminal Stop |
934-936dup | Q312dup | In-frame duplication in bZip | |
13 | 262-263insTTGGCAC | Q88fsX109 | N-terminal Stop |
937-942dup | K313-V314dup | In-frame duplication in bZip | |
14 | 247-250dup | H84fsX108 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
15 | 196del | A66fsX159 | N-terminal Stop |
950-951ins24bp | L317-T318ins8aa | In-frame insertion in bZip | |
16 | 177-186del | E59fsX156 | N-terminal Stop |
932-949del | Q311-E316del | In-frame deletion in bZip | |
17 | 68del | P23fsX159 | N-terminal Stop |
944-945insGCA | L315-E316insQ | In-frame insertion in bZip | |
18 | 201dup | I68fsX107 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
19 | 162-172del | G54fsX103 | N-terminal Stop |
938-940dup | K313-V314insE | In-frame insertion in bZip | |
20 | 246del | F82fsX159 | N-terminal Stop |
956-957insCGG | S319-D320insG | In-frame insertion in bZip | |
21 | 151del | P51fsX159 | N-terminal Stop |
921-926del | N307-V308delinsK | In-frame deletion in bZip | |
22 | 147del | P49fsX159 | N-terminal Stop |
937-939del | K313del | In-frame deletion in bZip | |
23 | 276-292del | K92fsX101 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
24 | 258-259delinsAT | Q87X | N-terminal Stop |
897-920dup | R300-N307dup | In-frame duplication in bZip | |
25 | 177-186del | E49fsX156 | N-terminal Stop |
931-933dup | Q311dup | In-frame duplication in bZip | |
26 | 246del | F82fsX159 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
27 | 247dup | Q83fsX107 | N-terminal Stop |
970-975dup | L324-R325dup | In-frame duplication in bZip | |
28 | 246-247insGT | Q83fsX160 | N-terminal Stop |
1013-1072dup | T337-N356dup | In-frame duplication in bZip | |
29 | 247dup | Q83fsX107 | N-terminal Stop |
970-975dup | L324-R325dup | In-frame duplication in bZip | |
30 | 258-259delinsAT | Q87X | N-terminal Stop |
931-933dup | Q311dup | In-frame duplication in bZip | |
31 | 319-320insCTTG | A107fsX170 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
32 | 281del | A94fsX159 | N-terminal Stop |
929-937dup | T310-Q312dup | In-frame duplication in bZip | |
33 | |||
931-939dup | Q311-K313dup | In-frame duplication in bZip | |
34 | |||
937-939dup | K313dup | In-frame duplication in bZip | |
35 | |||
936-938dup | K313dup | In-frame duplication in bZip | |
36 | |||
915-938dup | R306-K313dup | In-frame duplication in bZip | |
37 | |||
926-927insTGA | E309DinsE | In-frame insertion in bZip | |
38 | |||
931-933dup | Q311dup | In-frame duplication in bZip |
Pt no. . | BP change . | AA change . | Predicted effect . |
---|---|---|---|
1 | 322-323insT | Y108fsX169 | N-terminal Stop |
2 | 317-320dup | D107fsX108 | N-terminal Stop |
915-938dup | R306-K313dup | In-frame duplication in bZip | |
3 | 312-313insCAGCTTC | G104fsX109 | N-terminal Stop |
950-951insTCT | L317-T318insL | In-frame insertion in bZip | |
4 | 68del | P23fsX159 | N-terminal Stop |
936-938dup | K313dup | In-frame duplication in bZip | |
5 | 258-259delinsAT | Q87X | N-terminal Stop |
915-938dup | R306-K313dup | In-frame duplication in bZip | |
6 | 68-78del | P23fsX103 | N-terminal Stop |
893-928dup | K298-E309dup | In-frame duplication in bZip | |
7 | 270del | K90fsX159 | N-terminal Stop |
976-977insCGCTGGGAA | K326TinsLGK | In-frame insertion in bZip | |
8 | 68del | P23fsX159 | N-terminal Stop |
921-938dup | V308-K313dup | In-frame duplication in bZip | |
9 | 123-124insGC | G54fsX160 | N-terminal Stop |
914-916dup | Q105dup | In-frame duplication in bZip | |
10 | 68-69insC | P23fsX107 | N-terminal Stop |
893-928dup | K298-E309dup | In-frame duplication in bZip | |
11 | 258-259delinsAT | Q87X | N-terminal Stop |
936-938dup | K313dup | In-frame duplication in bZip | |
12 | 59-60dup | S60fsX160 | N-terminal Stop |
934-936dup | Q312dup | In-frame duplication in bZip | |
13 | 262-263insTTGGCAC | Q88fsX109 | N-terminal Stop |
937-942dup | K313-V314dup | In-frame duplication in bZip | |
14 | 247-250dup | H84fsX108 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
15 | 196del | A66fsX159 | N-terminal Stop |
950-951ins24bp | L317-T318ins8aa | In-frame insertion in bZip | |
16 | 177-186del | E59fsX156 | N-terminal Stop |
932-949del | Q311-E316del | In-frame deletion in bZip | |
17 | 68del | P23fsX159 | N-terminal Stop |
944-945insGCA | L315-E316insQ | In-frame insertion in bZip | |
18 | 201dup | I68fsX107 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
19 | 162-172del | G54fsX103 | N-terminal Stop |
938-940dup | K313-V314insE | In-frame insertion in bZip | |
20 | 246del | F82fsX159 | N-terminal Stop |
956-957insCGG | S319-D320insG | In-frame insertion in bZip | |
21 | 151del | P51fsX159 | N-terminal Stop |
921-926del | N307-V308delinsK | In-frame deletion in bZip | |
22 | 147del | P49fsX159 | N-terminal Stop |
937-939del | K313del | In-frame deletion in bZip | |
23 | 276-292del | K92fsX101 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
24 | 258-259delinsAT | Q87X | N-terminal Stop |
897-920dup | R300-N307dup | In-frame duplication in bZip | |
25 | 177-186del | E49fsX156 | N-terminal Stop |
931-933dup | Q311dup | In-frame duplication in bZip | |
26 | 246del | F82fsX159 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
27 | 247dup | Q83fsX107 | N-terminal Stop |
970-975dup | L324-R325dup | In-frame duplication in bZip | |
28 | 246-247insGT | Q83fsX160 | N-terminal Stop |
1013-1072dup | T337-N356dup | In-frame duplication in bZip | |
29 | 247dup | Q83fsX107 | N-terminal Stop |
970-975dup | L324-R325dup | In-frame duplication in bZip | |
30 | 258-259delinsAT | Q87X | N-terminal Stop |
931-933dup | Q311dup | In-frame duplication in bZip | |
31 | 319-320insCTTG | A107fsX170 | N-terminal Stop |
937-939dup | K313dup | In-frame duplication in bZip | |
32 | 281del | A94fsX159 | N-terminal Stop |
929-937dup | T310-Q312dup | In-frame duplication in bZip | |
33 | |||
931-939dup | Q311-K313dup | In-frame duplication in bZip | |
34 | |||
937-939dup | K313dup | In-frame duplication in bZip | |
35 | |||
936-938dup | K313dup | In-frame duplication in bZip | |
36 | |||
915-938dup | R306-K313dup | In-frame duplication in bZip | |
37 | |||
926-927insTGA | E309DinsE | In-frame insertion in bZip | |
38 | |||
931-933dup | Q311dup | In-frame duplication in bZip |