1 |
CENPJ |
NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter) |
SNV |
Pathogenic
|
503611 |
rs201111299 |
GRCh37: 13:25481044-25481044 GRCh38: 13:24906906-24906906 |
2 |
CENPJ |
NM_018451.5(CENPJ):c.289dup (p.Thr97fs) |
DUP |
Pathogenic
|
279750 |
rs759188041 |
GRCh37: 13:25486874-25486875 GRCh38: 13:24912736-24912737 |
3 |
TUBA1A |
NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser) |
SNV |
Pathogenic
|
976320 |
rs1942171599 |
GRCh37: 12:49579448-49579448 GRCh38: 12:49185665-49185665 |
4 |
TUBA1A |
NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala) |
SNV |
Pathogenic
|
977324 |
rs1942173367 |
GRCh37: 12:49579604-49579604 GRCh38: 12:49185821-49185821 |
5 |
TUBA1A |
NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val) |
SNV |
Pathogenic
|
1164064 |
|
GRCh37: 12:49579718-49579718 GRCh38: 12:49185935-49185935 |
6 |
TUBA1A |
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) |
SNV |
Pathogenic
|
625491 |
rs1565627795 |
GRCh37: 12:49580594-49580594 GRCh38: 12:49186811-49186811 |
7 |
TUBA1A |
NM_006009.4(TUBA1A):c.1288_1302del (p.Lys430_Glu434del) |
DEL |
Pathogenic
|
1065497 |
|
GRCh37: 12:49578847-49578861 GRCh38: 12:49185064-49185078 |
8 |
TUBA1A |
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) |
SNV |
Pathogenic
|
7070 |
rs137853043 |
GRCh37: 12:49579359-49579359 GRCh38: 12:49185576-49185576 |
9 |
TUBA1A |
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) |
SNV |
Pathogenic
|
7071 |
rs137853044 |
GRCh37: 12:49578944-49578944 GRCh38: 12:49185161-49185161 |
10 |
TUBA1A |
NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu) |
SNV |
Pathogenic
|
7072 |
rs137853045 |
GRCh37: 12:49579587-49579587 GRCh38: 12:49185804-49185804 |
11 |
TUBA1A |
NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr) |
SNV |
Pathogenic
|
7073 |
rs137853046 |
GRCh37: 12:49579362-49579362 GRCh38: 12:49185579-49185579 |
12 |
TUBA1A |
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) |
SNV |
Pathogenic
|
7074 |
rs137853047 |
GRCh37: 12:49578893-49578893 GRCh38: 12:49185110-49185110 |
13 |
TUBA1A |
NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro) |
SNV |
Pathogenic
|
7075 |
rs137853048 |
GRCh37: 12:49578959-49578959 GRCh38: 12:49185176-49185176 |
14 |
TUBA1A |
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) |
SNV |
Pathogenic
|
7076 |
rs137853049 |
GRCh37: 12:49578885-49578885 GRCh38: 12:49185102-49185102 |
15 |
TUBA1A |
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) |
SNV |
Pathogenic
|
7077 |
rs137853050 |
GRCh37: 12:49578884-49578884 GRCh38: 12:49185101-49185101 |
16 |
TUBA1A |
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) |
SNV |
Pathogenic
|
30268 |
rs387906840 |
GRCh37: 12:49580607-49580607 GRCh38: 12:49186824-49186824 |
17 |
TUBA1A |
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) |
SNV |
Pathogenic
|
160146 |
rs587784483 |
GRCh37: 12:49578945-49578945 GRCh38: 12:49185162-49185162 |
18 |
TUBA1A |
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu) |
SNV |
Pathogenic
|
160147 |
rs137853044 |
GRCh37: 12:49578944-49578944 GRCh38: 12:49185161-49185161 |
19 |
TUBA1A |
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) |
SNV |
Pathogenic
|
864866 |
rs1942168488 |
GRCh37: 12:49579191-49579191 GRCh38: 12:49185408-49185408 |
20 |
TUBA1A |
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) |
SNV |
Pathogenic
|
160158 |
rs587784488 |
GRCh37: 12:49579668-49579668 GRCh38: 12:49185885-49185885 |
21 |
TUBA1A |
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) |
SNV |
Pathogenic
|
160167 |
rs587784495 |
GRCh37: 12:49579163-49579163 GRCh38: 12:49185380-49185380 |
22 |
TUBA1A |
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) |
SNV |
Pathogenic
|
208490 |
rs797045005 |
GRCh37: 12:49578923-49578923 GRCh38: 12:49185140-49185140 |
23 |
TUBA1A |
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) |
SNV |
Pathogenic
|
209200 |
rs753719501 |
GRCh37: 12:49578925-49578925 GRCh38: 12:49185142-49185142 |
24 |
TUBA1A |
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) |
SNV |
Pathogenic
|
488628 |
rs1064796460 |
GRCh37: 12:49578980-49578980 GRCh38: 12:49185197-49185197 |
25 |
TUBA1A |
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) |
SNV |
Pathogenic
Likely Pathogenic
|
372561 |
rs1057517858 |
GRCh37: 12:49579497-49579497 GRCh38: 12:49185714-49185714 |
26 |
TUBA1A |
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met) |
SNV |
Pathogenic
|
625513 |
rs1565627727 |
GRCh37: 12:49580453-49580453 GRCh38: 12:49186670-49186670 |
27 |
TUBA1A |
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) |
SNV |
Pathogenic
|
421567 |
rs1064795213 |
GRCh37: 12:49580567-49580567 GRCh38: 12:49186784-49186784 |
28 |
TUBA1A |
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) |
SNV |
Pathogenic
|
625511 |
rs1565627304 |
GRCh37: 12:49579631-49579631 GRCh38: 12:49185848-49185848 |
29 |
TUBA1A |
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) |
SNV |
Pathogenic/Likely Pathogenic
|
423490 |
rs1064796460 |
GRCh37: 12:49578980-49578980 GRCh38: 12:49185197-49185197 |
30 |
TUBA1A |
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) |
SNV |
Pathogenic/Likely Pathogenic
|
217023 |
rs863224938 |
GRCh37: 12:49580116-49580116 GRCh38: 12:49186333-49186333 |
31 |
TUBA1A |
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) |
SNV |
Pathogenic/Likely Pathogenic
|
212488 |
rs797046071 |
GRCh37: 12:49579044-49579044 GRCh38: 12:49185261-49185261 |
32 |
TUBA1A |
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) |
SNV |
Pathogenic/Likely Pathogenic
|
372542 |
rs1057517843 |
GRCh37: 12:49579508-49579508 GRCh38: 12:49185725-49185725 |
33 |
TUBA1A |
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) |
SNV |
Pathogenic/Likely Pathogenic
|
160161 |
rs587784491 |
GRCh37: 12:49580615-49580615 GRCh38: 12:49186832-49186832 |
34 |
TUBA1A |
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) |
SNV |
Likely Pathogenic
|
160162 |
rs587784492 |
GRCh37: 12:49579451-49579451 GRCh38: 12:49185668-49185668 |
35 |
TUBA1A |
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) |
SNV |
Likely Pathogenic
|
160164 |
rs587784494 |
GRCh37: 12:49579341-49579341 GRCh38: 12:49185558-49185558 |
36 |
TUBA1A |
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) |
SNV |
Likely Pathogenic
|
160169 |
rs587784497 |
GRCh37: 12:49579154-49579154 GRCh38: 12:49185371-49185371 |
37 |
TUBA1A |
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) |
SNV |
Likely Pathogenic
|
160159 |
rs587784489 |
GRCh37: 12:49579628-49579628 GRCh38: 12:49185845-49185845 |
38 |
TUBA1A |
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) |
SNV |
Likely Pathogenic
|
437121 |
rs1555162294 |
GRCh37: 12:49579005-49579005 GRCh38: 12:49185222-49185222 |
39 |
TUBA1A |
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) |
SNV |
Likely Pathogenic
|
437122 |
rs1555162456 |
GRCh37: 12:49580100-49580100 GRCh38: 12:49186317-49186317 |
40 |
TUBA1A |
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) |
SNV |
Likely Pathogenic
|
437120 |
rs1555162242 |
GRCh37: 12:49578845-49578845 GRCh38: 12:49185062-49185062 |
41 |
TUBA1A |
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) |
SNV |
Likely Pathogenic
|
212494 |
rs797046073 |
GRCh37: 12:49579179-49579179 GRCh38: 12:49185396-49185396 |
42 |
TUBA1A |
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) |
SNV |
Likely Pathogenic
|
212491 |
rs797046072 |
GRCh37: 12:49580199-49580199 GRCh38: 12:49186416-49186416 |
43 |
TUBA1A |
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) |
SNV |
Likely Pathogenic
|
160148 |
rs587784484 |
GRCh37: 12:49578875-49578875 GRCh38: 12:49185092-49185092 |
44 |
TUBA1A |
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) |
SNV |
Likely Pathogenic
|
160149 |
rs587784485 |
GRCh37: 12:49580468-49580468 GRCh38: 12:49186685-49186685 |
45 |
TUBA1A |
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) |
SNV |
Likely Pathogenic
|
160150 |
rs587784486 |
GRCh37: 12:49580458-49580458 GRCh38: 12:49186675-49186675 |
46 |
TUBA1A |
NM_006009.4(TUBA1A):c.703G>C (p.Val235Leu) |
SNV |
Likely Pathogenic
|
1028472 |
rs1565627190 |
GRCh37: 12:49579446-49579446 GRCh38: 12:49185663-49185663 |
47 |
TUBA1A |
NM_006009.4(TUBA1A):c.3+3del |
DEL |
Likely Pathogenic
|
1064595 |
|
GRCh37: 12:49582757-49582757 GRCh38: 12:49188974-49188974 |
48 |
TUBA1A |
NM_006009.4(TUBA1A):c.879_899del (p.Ala294_Asn300del) |
DEL |
Likely Pathogenic
|
1705279 |
|
GRCh37: 12:49579250-49579270 GRCh38: 12:49185467-49185487 |
49 |
TUBA1A |
NM_006009.4(TUBA1A):c.635_640del (p.Ile212_Arg214delinsSer) |
DEL |
Likely Pathogenic
|
1679172 |
|
GRCh37: 12:49579509-49579514 GRCh38: 12:49185726-49185731 |
50 |
TUBA1A |
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) |
SNV |
Likely Pathogenic
|
160142 |
rs587784481 |
GRCh37: 12:49579020-49579020 GRCh38: 12:49185237-49185237 |