1 |
GRIN2A |
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) |
SNV |
Pathogenic
|
88729 |
rs397518467 |
GRCh37: 16:9858572-9858572 GRCh38: 16:9764715-9764715 |
2 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) |
SNV |
Pathogenic
|
411285 |
rs1060503228 |
GRCh37: 16:9928005-9928005 GRCh38: 16:9834148-9834148 |
3 |
GRIN2A |
NC_000016.9:g.(?_10273835)_(10274288_?)del |
DEL |
Pathogenic
|
464050 |
|
GRCh37: 16:10273835-10274288 GRCh38: |
4 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) |
SNV |
Pathogenic
|
567708 |
rs397518470 |
GRCh37: 16:9934602-9934602 GRCh38: 16:9840745-9840745 |
5 |
GRIN2A |
NM_001134407.3(GRIN2A):c.2346_2356+8del |
DEL |
Pathogenic
|
421444 |
rs1064795143 |
GRCh37: 16:9892126-9892144 GRCh38: 16:9798269-9798287 |
6 |
GRIN2A |
NC_000016.10:g.(?_9890966)_(9891120_?)del |
DEL |
Pathogenic
|
532726 |
|
GRCh37: 16:9984823-9984977 GRCh38: 16:9890966-9891120 |
7 |
GRIN2A |
NC_000016.10:g.(?_9849736)_(9849981_?)del |
DEL |
Pathogenic
|
532725 |
|
GRCh37: 16:9943593-9943838 GRCh38: 16:9849736-9849981 |
8 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) |
SNV |
Pathogenic
|
532718 |
rs1555492769 |
GRCh37: 16:9923386-9923386 GRCh38: 16:9829529-9829529 |
9 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter) |
SNV |
Pathogenic
|
640659 |
|
GRCh37: 16:9934956-9934956 GRCh38: 16:9841099-9841099 |
10 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) |
DEL |
Pathogenic
|
641340 |
rs1596483044 |
GRCh37: 16:9934507-9934507 GRCh38: 16:9840650-9840650 |
11 |
GRIN2A |
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) |
DUP |
Pathogenic
|
664825 |
rs1596587476 |
GRCh37: 16:10274201-10274202 GRCh38: 16:10180344-10180345 |
12 |
GRIN2A |
NC_000016.10:g.(?_9798257)_(9849981_?)del |
DEL |
Pathogenic
|
830906 |
|
GRCh37: 16:9892114-9943838 GRCh38: |
13 |
GRIN2A |
NC_000016.10:g.(?_9829403)_(9829672_?)del |
DEL |
Pathogenic
|
831053 |
|
GRCh37: 16:9923260-9923529 GRCh38: |
14 |
GRIN2A |
NC_000016.10:g.(?_9890966)_(10180431_?)del |
DEL |
Pathogenic
|
831099 |
|
GRCh37: 16:9984823-10274288 GRCh38: |
15 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1123-2A>T |
SNV |
Pathogenic
|
813769 |
|
GRCh37: 16:9943820-9943820 GRCh38: 16:9849963-9849963 |
16 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1123-1G>A |
SNV |
Pathogenic
|
839918 |
rs2042854251 |
GRCh37: 16:9943819-9943819 GRCh38: 16:9849962-9849962 |
17 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) |
SNV |
Pathogenic
|
870418 |
rs2042447850 |
GRCh37: 16:9923348-9923348 GRCh38: 16:9829491-9829491 |
18 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs) |
DUP |
Pathogenic
|
813782 |
|
GRCh37: 16:9934625-9934626 GRCh38: 16:9840768-9840769 |
19 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) |
DEL |
Pathogenic
|
917870 |
rs2043685576 |
GRCh37: 16:9984911-9984911 GRCh38: 16:9891054-9891054 |
20 |
GRIN2A |
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) |
SNV |
Pathogenic
|
917871 |
rs1903138230 |
GRCh37: 16:9892301-9892301 GRCh38: 16:9798444-9798444 |
21 |
GRIN2A |
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs) |
MICROSAT |
Pathogenic
|
917872 |
rs2050242587 |
GRCh37: 16:10274215-10274219 GRCh38: 16:10180358-10180362 |
22 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) |
DEL |
Pathogenic
|
948855 |
rs2042851617 |
GRCh37: 16:9943737-9943737 GRCh38: 16:9849880-9849880 |
23 |
GRIN2A |
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) |
SNV |
Pathogenic
|
951823 |
rs1555455620 |
GRCh37: 16:10031972-10031972 GRCh38: 16:9938115-9938115 |
24 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) |
DUP |
Pathogenic
|
955660 |
rs2042850660 |
GRCh37: 16:9943696-9943697 GRCh38: 16:9849839-9849840 |
25 |
GRIN2A |
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) |
SNV |
Pathogenic
|
963123 |
rs1555455618 |
GRCh37: 16:10031971-10031971 GRCh38: 16:9938114-9938114 |
26 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) |
SNV |
Pathogenic
|
961619 |
rs1555494686 |
GRCh37: 16:9934606-9934606 GRCh38: 16:9840749-9840749 |
27 |
GRIN2A |
NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter) |
SNV |
Pathogenic
|
1028882 |
rs1555455727 |
GRCh37: 16:10032230-10032230 GRCh38: 16:9938373-9938373 |
28 |
GRIN2A |
NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs) |
INSERT |
Pathogenic
|
1069106 |
|
GRCh37: 16:9858567-9858568 GRCh38: 16:9764710-9764711 |
29 |
GRIN2A |
NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs) |
MICROSAT |
Pathogenic
|
1069297 |
|
GRCh37: 16:10032010-10032011 GRCh38: 16:9938153-9938154 |
30 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter) |
SNV |
Pathogenic
|
1069306 |
|
GRCh37: 16:9923460-9923460 GRCh38: 16:9829603-9829603 |
31 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1497+1G>T |
SNV |
Pathogenic
|
1069406 |
|
GRCh37: 16:9934792-9934792 GRCh38: 16:9840935-9840935 |
32 |
GRIN2A |
NC_000016.9:g.(?_9916111)_(9916291_?)del |
DEL |
Pathogenic
|
1071858 |
|
GRCh37: 16:9916111-9916291 GRCh38: |
33 |
GRIN2A |
NC_000016.9:g.(?_10273845)_(10274268_?)del |
DEL |
Pathogenic
|
1071859 |
|
GRCh37: 16:10273845-10274268 GRCh38: |
34 |
GRIN2A |
NC_000016.9:g.(?_9857006)_(9862956_?)del |
DEL |
Pathogenic
|
1073743 |
|
GRCh37: 16:9857006-9862956 GRCh38: |
35 |
GRIN2A |
NC_000016.9:g.(?_9916101)_(9923529_?)dup |
DUP |
Pathogenic
|
1073744 |
|
GRCh37: 16:9916101-9923529 GRCh38: |
36 |
GRIN2A |
NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter) |
SNV |
Pathogenic
|
1073902 |
|
GRCh37: 16:10032363-10032363 GRCh38: 16:9938506-9938506 |
37 |
GRIN2A |
NC_000016.9:g.(?_9984833)_(9984967_?)del |
DEL |
Pathogenic
|
1075612 |
|
GRCh37: 16:9984833-9984967 GRCh38: |
38 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter) |
SNV |
Pathogenic
|
1075856 |
|
GRCh37: 16:9943807-9943807 GRCh38: 16:9849950-9849950 |
39 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter) |
SNV |
Pathogenic
|
1076203 |
|
GRCh37: 16:9984850-9984850 GRCh38: 16:9890993-9890993 |
40 |
GRIN2A |
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) |
DUP |
Pathogenic
|
522057 |
rs1555491538 |
GRCh37: 16:10274172-10274173 GRCh38: 16:10180315-10180316 |
41 |
GRIN2A |
NM_001134407.3(GRIN2A):c.3358_3359insGGTG (p.Ile1120fs) |
INSERT |
Pathogenic
|
1377453 |
|
GRCh37: 16:9858042-9858043 GRCh38: 16:9764185-9764186 |
42 |
GRIN2A |
NM_001134407.3(GRIN2A):c.645del (p.Gln216fs) |
DEL |
Pathogenic
|
1413913 |
|
GRCh37: 16:10032178-10032178 GRCh38: 16:9938321-9938321 |
43 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter) |
SNV |
Pathogenic
|
1366802 |
|
GRCh37: 16:9934865-9934865 GRCh38: 16:9841008-9841008 |
44 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1702del (p.Val568fs) |
DEL |
Pathogenic
|
1407756 |
|
GRCh37: 16:9928037-9928037 GRCh38: 16:9834180-9834180 |
45 |
GRIN2A |
NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs) |
DUP |
Pathogenic
|
1454126 |
|
GRCh37: 16:9857707-9857708 GRCh38: 16:9763850-9763851 |
46 |
GRIN2A |
NC_000016.9:g.(?_9857006)_(9923529_?)del |
DEL |
Pathogenic
|
1455172 |
|
GRCh37: 16:9857006-9923529 GRCh38: |
47 |
GRIN2A |
NC_000016.9:g.(?_9934484)_(9934981_?)del |
DEL |
Pathogenic
|
1457680 |
|
GRCh37: 16:9934484-9934981 GRCh38: |
48 |
GRIN2A |
NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met) |
SNV |
Pathogenic
|
1453886 |
|
GRCh37: 16:9923456-9923456 GRCh38: 16:9829599-9829599 |
49 |
GRIN2A |
NC_000016.9:g.(?_9857006)_(10274268_?)del |
DEL |
Pathogenic
|
1459968 |
|
GRCh37: 16:9857006-10274268 GRCh38: |
50 |
GRIN2A |
NC_000016.9:g.(?_9857006)_(10032428_?)del |
DEL |
Pathogenic
|
1459339 |
|
GRCh37: 16:9857006-10032428 GRCh38: |