1 |
CEP152
|
NM_001194998.1(CEP152): c.261+1G> C
|
single nucleotide variant |
Pathogenic |
rs966888627
|
GRCh37 |
Chromosome 15, 49089857: 49089857 |
2 |
CEP152
|
NM_001194998.1(CEP152): c.261+1G> C
|
single nucleotide variant |
Pathogenic |
rs966888627
|
GRCh38 |
Chromosome 15, 48797660: 48797660 |
3 |
CEP152
|
NM_001194998.1(CEP152): c.2694+1G> T
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 15, 48760134: 48760134 |
4 |
CEP152
|
NM_001194998.1(CEP152): c.2694+1G> T
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 15, 49052331: 49052331 |
5 |
CEP152
|
NM_001194998.1(CEP152): c.4378_4379delGT (p.Val1460Phefs)
|
deletion |
Likely benign |
rs141600901
|
GRCh38 |
Chromosome 15, 48739003: 48739004 |
6 |
CEP152
|
NM_001194998.1(CEP152): c.4378_4379delGT (p.Val1460Phefs)
|
deletion |
Likely benign |
rs141600901
|
GRCh37 |
Chromosome 15, 49031200: 49031201 |
7 |
CEP152
|
NM_014985.3(CEP152): c.2000A> G (p.Lys667Arg)
|
single nucleotide variant |
Likely benign |
rs200879436
|
GRCh37 |
Chromosome 15, 49060434: 49060434 |
8 |
CEP152
|
NM_014985.3(CEP152): c.2000A> G (p.Lys667Arg)
|
single nucleotide variant |
Likely benign |
rs200879436
|
GRCh38 |
Chromosome 15, 48768237: 48768237 |
9 |
CEP152
|
NM_014985.3(CEP152): c.2878T> C (p.Trp960Arg)
|
single nucleotide variant |
Uncertain significance |
rs201342438
|
GRCh37 |
Chromosome 15, 49048567: 49048567 |
10 |
CEP152
|
NM_014985.3(CEP152): c.2878T> C (p.Trp960Arg)
|
single nucleotide variant |
Uncertain significance |
rs201342438
|
GRCh38 |
Chromosome 15, 48756370: 48756370 |
11 |
CEP152
|
NM_014985.3(CEP152): c.2777A> T (p.Glu926Val)
|
single nucleotide variant |
Uncertain significance |
rs117557829
|
GRCh37 |
Chromosome 15, 49048668: 49048668 |
12 |
CEP152
|
NM_014985.3(CEP152): c.2777A> T (p.Glu926Val)
|
single nucleotide variant |
Uncertain significance |
rs117557829
|
GRCh38 |
Chromosome 15, 48756471: 48756471 |
13 |
CEP152
|
NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs182018947
|
GRCh37 |
Chromosome 15, 49059645: 49059645 |
14 |
CEP152
|
NM_014985.3(CEP152): c.2034T> G (p.Tyr678Ter)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs182018947
|
GRCh38 |
Chromosome 15, 48767448: 48767448 |
15 |
CENPJ
|
NM_018451.4(CENPJ): c.3936_3939delTCAT (p.His1313Lysfs)
|
deletion |
Pathogenic |
rs1060499557
|
GRCh37 |
Chromosome 13, 25457393: 25457396 |
16 |
CENPJ
|
NM_018451.4(CENPJ): c.3936_3939delTCAT (p.His1313Lysfs)
|
deletion |
Pathogenic |
rs1060499557
|
GRCh38 |
Chromosome 13, 24883255: 24883258 |