1 |
CDC14A
|
NM_033312.2(CDC14A): c.1126C> T (p.Arg376Ter)
|
single nucleotide variant |
Pathogenic |
rs876661408
|
GRCh37 |
Chromosome 1, 100949996: 100949996 |
2 |
CDC14A
|
NM_033312.2(CDC14A): c.1126C> T (p.Arg376Ter)
|
single nucleotide variant |
Pathogenic |
rs876661408
|
GRCh38 |
Chromosome 1, 100484440: 100484440 |
3 |
CDC14A
|
NM_033312.2(CDC14A): c.1015C> T (p.Arg339Ter)
|
single nucleotide variant |
Pathogenic |
rs777112652
|
GRCh37 |
Chromosome 1, 100949885: 100949885 |
4 |
CDC14A
|
NM_033312.2(CDC14A): c.1015C> T (p.Arg339Ter)
|
single nucleotide variant |
Pathogenic |
rs777112652
|
GRCh38 |
Chromosome 1, 100484329: 100484329 |
5 |
CDC14A
|
NM_033312.2(CDC14A): c.935G> A (p.Arg312Gln)
|
single nucleotide variant |
Pathogenic |
rs369245990
|
GRCh38 |
Chromosome 1, 100468052: 100468052 |
6 |
CDC14A
|
NM_033312.2(CDC14A): c.935G> A (p.Arg312Gln)
|
single nucleotide variant |
Pathogenic |
rs369245990
|
GRCh37 |
Chromosome 1, 100933608: 100933608 |
7 |
CDC14A
|
NM_033312.2(CDC14A): c.934C> G (p.Arg312Gly)
|
single nucleotide variant |
Pathogenic |
rs148737918
|
GRCh37 |
Chromosome 1, 100933607: 100933607 |
8 |
CDC14A
|
NM_033312.2(CDC14A): c.934C> G (p.Arg312Gly)
|
single nucleotide variant |
Pathogenic |
rs148737918
|
GRCh38 |
Chromosome 1, 100468051: 100468051 |
9 |
CDC14A
|
NM_033312.2(CDC14A): c.376delT (p.Tyr126Ilefs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 1, 100889844: 100889844 |
10 |
CDC14A
|
NM_033312.2(CDC14A): c.376delT (p.Tyr126Ilefs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 1, 100424288: 100424288 |
11 |
CDC14A
|
NM_033312.2(CDC14A): c.839-3C> G
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 1, 100933509: 100933509 |
12 |
CDC14A
|
NM_033312.2(CDC14A): c.839-3C> G
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 1, 100467953: 100467953 |
13 |
CDC14A
|
NM_033312.2(CDC14A): c.1033C> T (p.Arg345Ter)
|
single nucleotide variant |
Pathogenic |
rs549556142
|
GRCh37 |
Chromosome 1, 100949903: 100949903 |
14 |
CDC14A
|
NM_033312.2(CDC14A): c.1033C> T (p.Arg345Ter)
|
single nucleotide variant |
Pathogenic |
rs549556142
|
GRCh38 |
Chromosome 1, 100484347: 100484347 |