1 |
CREBBP |
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1 |
CN LOSS |
Pathogenic
|
1300180 |
|
GRCh37: GRCh38: 16:3727580-3851110 |
2 |
CREBBP |
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) |
SNV |
Pathogenic
|
379578 |
rs1057520652 |
GRCh37: 16:3823913-3823913 GRCh38: 16:3773912-3773912 |
3 |
CREBBP |
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) |
INDEL |
Pathogenic
|
639046 |
rs1596908213 |
GRCh37: 16:3828119-3828120 GRCh38: 16:3778118-3778119 |
4 |
CREBBP |
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter) |
SNV |
Pathogenic
|
650876 |
rs778375586 |
GRCh37: 16:3786093-3786093 GRCh38: 16:3736092-3736092 |
5 |
overlap with 30 genes |
NC_000016.10:g.(?_3727698)_(4802591_?)del |
DEL |
Pathogenic
|
657383 |
|
GRCh37: 16:3777699-4852592 GRCh38: 16:3727698-4802591 |
6 |
EP300 |
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer) |
DEL |
Pathogenic
|
930113 |
rs2059050320 |
GRCh37: 22:41548225-41548226 GRCh38: 22:41152221-41152222 |
7 |
CREBBP |
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs) |
DUP |
Pathogenic
|
949875 |
rs2052073167 |
GRCh37: 16:3786806-3786807 GRCh38: 16:3736805-3736806 |
8 |
CREBBP |
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs) |
INDEL |
Pathogenic
|
969638 |
rs2051819669 |
GRCh37: 16:3778644-3778644 GRCh38: 16:3728643-3728643 |
9 |
overlap with 17 genes |
NC_000016.9:g.(?_3293141)_(3929917_?)del |
DEL |
Pathogenic
|
1455963 |
|
GRCh37: 16:3293141-3929917 GRCh38: |
10 |
CREBBP |
NC_000016.9:g.(?_3841962)_(3843647_?)del |
DEL |
Pathogenic
|
1455967 |
|
GRCh37: 16:3841962-3843647 GRCh38: |
11 |
CREBBP |
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter) |
SNV |
Pathogenic
|
853646 |
rs2053306001 |
GRCh37: 16:3832898-3832898 GRCh38: 16:3782897-3782897 |
12 |
CREBBP |
NM_004380.3(CREBBP):c.49del (p.Leu17fs) |
DEL |
Pathogenic
|
859497 |
rs2055490182 |
GRCh37: 16:3929869-3929869 GRCh38: 16:3879868-3879868 |
13 |
CREBBP |
NM_004380.3(CREBBP):c.2233del (p.Ser745fs) |
DEL |
Pathogenic
|
943635 |
rs2053092574 |
GRCh37: 16:3824620-3824620 GRCh38: 16:3774619-3774619 |
14 |
CREBBP |
NM_004380.3(CREBBP):c.1663del (p.Leu555fs) |
DEL |
Pathogenic
|
947511 |
rs2053266530 |
GRCh37: 16:3831218-3831218 GRCh38: 16:3781217-3781217 |
15 |
CREBBP |
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs) |
DEL |
Pathogenic
|
959962 |
rs2053305017 |
GRCh37: 16:3832863-3832870 GRCh38: 16:3782862-3782869 |
16 |
CREBBP |
NM_004380.3(CREBBP):c.36del (p.Arg14fs) |
DEL |
Pathogenic
|
960417 |
rs2055490682 |
GRCh37: 16:3929882-3929882 GRCh38: 16:3879881-3879881 |
17 |
CREBBP |
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) |
SNV |
Pathogenic
|
694799 |
rs1596920501 |
GRCh37: 16:3832709-3832709 GRCh38: 16:3782708-3782708 |
18 |
CREBBP |
NM_004380.3(CREBBP):c.3676del (p.Ala1226fs) |
DEL |
Pathogenic
|
1070983 |
|
GRCh37: 16:3807311-3807311 GRCh38: 16:3757310-3757310 |
19 |
CREBBP |
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs) |
DEL |
Pathogenic
|
1071243 |
|
GRCh37: 16:3786082-3786086 GRCh38: 16:3736081-3736085 |
20 |
CREBBP |
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) |
SNV |
Pathogenic
|
1071591 |
|
GRCh37: 16:3860777-3860777 GRCh38: 16:3810776-3810776 |
21 |
CREBBP |
NC_000016.10:g.(?_3780712)_(3781326_?)del |
DEL |
Pathogenic
|
651826 |
|
GRCh37: 16:3830713-3831327 GRCh38: 16:3780712-3781326 |
22 |
CREBBP |
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) |
DUP |
Pathogenic
|
658697 |
rs1596909915 |
GRCh37: 16:3828786-3828787 GRCh38: 16:3778785-3778786 |
23 |
CREBBP |
NM_004380.3(CREBBP):c.2322del (p.Asn774fs) |
DEL |
Pathogenic
|
658712 |
rs1596895545 |
GRCh37: 16:3823893-3823893 GRCh38: 16:3773892-3773892 |
24 |
CREBBP |
NC_000016.10:g.(?_3757268)_(3757396_?)del |
DEL |
Pathogenic
|
832459 |
|
GRCh37: 16:3807269-3807397 GRCh38: |
25 |
CREBBP |
NC_000016.10:g.(?_3810583)_(3879936_?)del |
DEL |
Pathogenic
|
832520 |
|
GRCh37: 16:3860584-3929937 GRCh38: |
26 |
CREBBP |
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs) |
DUP |
Pathogenic
|
644368 |
rs1596786167 |
GRCh37: 16:3779191-3779192 GRCh38: 16:3729190-3729191 |
27 |
CREBBP |
NM_004380.3(CREBBP):c.3369+1G>A |
SNV |
Pathogenic
|
664200 |
rs587783480 |
GRCh37: 16:3808854-3808854 GRCh38: 16:3758853-3758853 |
28 |
CREBBP |
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) |
MICROSAT |
Pathogenic
|
585288 |
rs1567263114 |
GRCh37: 16:3779406-3779407 GRCh38: 16:3729405-3729406 |
29 |
CREBBP |
NM_004380.3(CREBBP):c.4561-2A>T |
SNV |
Pathogenic
|
1459112 |
|
GRCh37: 16:3786206-3786206 GRCh38: 16:3736205-3736205 |
30 |
CREBBP |
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter) |
SNV |
Pathogenic
|
1452058 |
|
GRCh37: 16:3831263-3831263 GRCh38: 16:3781262-3781262 |
31 |
CREBBP |
NC_000016.10:g.(?_3727698)_(3810799_?)del |
DEL |
Pathogenic
|
832589 |
|
GRCh37: 16:3777699-3860800 GRCh38: |
32 |
CREBBP |
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter) |
SNV |
Pathogenic
|
851163 |
rs2052070776 |
GRCh37: 16:3786719-3786719 GRCh38: 16:3736718-3736718 |
33 |
CREBBP |
NM_004380.3(CREBBP):c.1941+5G>A |
SNV |
Pathogenic
|
852536 |
rs2053202354 |
GRCh37: 16:3828696-3828696 GRCh38: 16:3778695-3778695 |
34 |
CREBBP |
NM_004380.3(CREBBP):c.2464-6T>A |
SNV |
Pathogenic
|
952068 |
rs2052993184 |
GRCh37: 16:3820993-3820993 GRCh38: 16:3770992-3770992 |
35 |
CREBBP |
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs) |
DUP |
Pathogenic
|
1076909 |
|
GRCh37: 16:3781420-3781421 GRCh38: 16:3731419-3731420 |
36 |
CREBBP |
NM_004380.3(CREBBP):c.3836+1G>A |
SNV |
Pathogenic
|
158361 |
rs200782888 |
GRCh37: 16:3799627-3799627 GRCh38: 16:3749626-3749626 |
37 |
overlap with 2 genes |
NC_000016.9:g.(?_3711968)_(3781958_?)del |
DEL |
Pathogenic
|
1457650 |
|
GRCh37: 16:3711968-3781958 GRCh38: |
38 |
CREBBP |
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter) |
SNV |
Pathogenic
|
1451776 |
|
GRCh37: 16:3779266-3779266 GRCh38: 16:3729265-3729265 |
39 |
CREBBP |
NM_004380.3(CREBBP):c.472del (p.Gln158fs) |
DEL |
Pathogenic
|
458200 |
rs1555496581 |
GRCh37: 16:3900624-3900624 GRCh38: 16:3850623-3850623 |
40 |
CREBBP |
NM_004380.3(CREBBP):c.1917dup (p.Met640fs) |
DUP |
Pathogenic
|
571048 |
rs1567306142 |
GRCh37: 16:3828724-3828725 GRCh38: 16:3778723-3778724 |
41 |
CREBBP |
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) |
DUP |
Pathogenic
|
527960 |
rs1555473668 |
GRCh37: 16:3789628-3789629 GRCh38: 16:3739627-3739628 |
42 |
CREBBP |
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter) |
SNV |
Pathogenic
|
527962 |
rs1555471874 |
GRCh37: 16:3781351-3781351 GRCh38: 16:3731350-3731350 |
43 |
CREBBP |
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter) |
SNV |
Pathogenic
|
527961 |
rs1555472931 |
GRCh37: 16:3786102-3786102 GRCh38: 16:3736101-3736101 |
44 |
CREBBP |
NM_004380.3(CREBBP):c.1941+1G>A |
SNV |
Pathogenic
|
527959 |
rs1555483834 |
GRCh37: 16:3828700-3828700 GRCh38: 16:3778699-3778699 |
45 |
CREBBP |
NM_004380.3(CREBBP):c.3836+1G>C |
SNV |
Pathogenic
|
568079 |
rs200782888 |
GRCh37: 16:3799627-3799627 GRCh38: 16:3749626-3749626 |
46 |
CREBBP |
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) |
DEL |
Pathogenic
|
566424 |
rs1567276741 |
GRCh37: 16:3794900-3794900 GRCh38: 16:3744899-3744899 |
47 |
CREBBP |
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) |
DEL |
Pathogenic
|
458203 |
rs1555471323 |
GRCh37: 16:3779345-3779354 GRCh38: 16:3729344-3729353 |
48 |
CREBBP |
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) |
SNV |
Pathogenic
|
458197 |
rs1555484797 |
GRCh37: 16:3832811-3832811 GRCh38: 16:3782810-3782810 |
49 |
CREBBP |
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) |
SNV |
Pathogenic
|
527965 |
rs1555473491 |
GRCh37: 16:3788560-3788560 GRCh38: 16:3738559-3738559 |
50 |
CREBBP |
NC_000016.9:g.(?_3900278)_(3929917_?)del |
DEL |
Pathogenic
|
1458408 |
|
GRCh37: 16:3900278-3929917 GRCh38: |