1 |
UMOD
|
NM_003361.3(UMOD): c.307G> T (p.Gly103Cys)
|
single nucleotide variant |
Pathogenic |
rs28934584
|
GRCh37 |
Chromosome 16, 20360316: 20360316 |
2 |
UMOD
|
NM_003361.3(UMOD): c.307G> T (p.Gly103Cys)
|
single nucleotide variant |
Pathogenic |
rs28934584
|
GRCh38 |
Chromosome 16, 20348994: 20348994 |
3 |
UMOD
|
NM_003361.3(UMOD): c.840C> T (p.Pro280=)
|
single nucleotide variant |
Benign |
rs78691203
|
GRCh37 |
Chromosome 16, 20359783: 20359783 |
4 |
UMOD
|
NM_003361.3(UMOD): c.840C> T (p.Pro280=)
|
single nucleotide variant |
Benign |
rs78691203
|
GRCh38 |
Chromosome 16, 20348461: 20348461 |
5 |
UMOD
|
NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
indel |
Pathogenic |
rs878855325
|
GRCh38 |
Chromosome 16, 20349012: 20349023 |
6 |
UMOD
|
NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
indel |
Pathogenic |
rs878855325
|
GRCh37 |
Chromosome 16, 20360334: 20360345 |
7 |
UMOD
|
NM_003361.3(UMOD): c.744C> G (p.Cys248Trp)
|
single nucleotide variant |
Pathogenic |
rs886043751
|
GRCh37 |
Chromosome 16, 20359879: 20359879 |
8 |
UMOD
|
NM_003361.3(UMOD): c.744C> G (p.Cys248Trp)
|
single nucleotide variant |
Pathogenic |
rs886043751
|
GRCh38 |
Chromosome 16, 20348557: 20348557 |
9 |
UMOD
|
NM_003361.3(UMOD): c.1372G> T (p.Val458Leu)
|
single nucleotide variant |
Benign |
rs55772253
|
GRCh37 |
Chromosome 16, 20352618: 20352618 |
10 |
UMOD
|
NM_003361.3(UMOD): c.1372G> T (p.Val458Leu)
|
single nucleotide variant |
Benign |
rs55772253
|
GRCh38 |
Chromosome 16, 20341296: 20341296 |
11 |
UMOD
|
NM_003361.3(UMOD): c.947A> C (p.Gln316Pro)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 16, 20359571: 20359571 |
12 |
UMOD
|
NM_003361.3(UMOD): c.947A> C (p.Gln316Pro)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 16, 20348249: 20348249 |