1 |
PLOD2
|
NM_000935.2(PLOD2): c.1823C> T (p.Thr608Ile)
|
single nucleotide variant |
Pathogenic |
rs121434459
|
GRCh37 |
Chromosome 3, 145789173: 145789173 |
2 |
PLOD2
|
NM_000935.2(PLOD2): c.1823C> T (p.Thr608Ile)
|
single nucleotide variant |
Pathogenic |
rs121434459
|
GRCh38 |
Chromosome 3, 146071386: 146071386 |
3 |
PLOD2
|
NM_000935.2(PLOD2): c.1802G> T (p.Gly601Val)
|
single nucleotide variant |
Pathogenic |
rs121434460
|
GRCh37 |
Chromosome 3, 145789194: 145789194 |
4 |
PLOD2
|
NM_000935.2(PLOD2): c.1802G> T (p.Gly601Val)
|
single nucleotide variant |
Pathogenic |
rs121434460
|
GRCh38 |
Chromosome 3, 146071407: 146071407 |
5 |
PLOD2
|
NM_000935.2(PLOD2): c.1793G> A (p.Arg598His)
|
single nucleotide variant |
Pathogenic |
rs121434461
|
GRCh37 |
Chromosome 3, 145789203: 145789203 |
6 |
PLOD2
|
NM_000935.2(PLOD2): c.1793G> A (p.Arg598His)
|
single nucleotide variant |
Pathogenic |
rs121434461
|
GRCh38 |
Chromosome 3, 146071416: 146071416 |
7 |
PLOD2
|
NM_182943.2: c.1559dupC
|
duplication |
Pathogenic |
|
|
|
8 |
PLOD2
|
NM_182943.2(PLOD2): c.1500+12A> G
|
single nucleotide variant |
Benign |
rs73010484
|
GRCh37 |
Chromosome 3, 145796891: 145796891 |
9 |
PLOD2
|
NM_182943.2(PLOD2): c.1500+12A> G
|
single nucleotide variant |
Benign |
rs73010484
|
GRCh38 |
Chromosome 3, 146079104: 146079104 |
10 |
PLOD2
|
NM_182943.2(PLOD2): c.338+4G> A
|
single nucleotide variant |
Benign |
rs4681297
|
GRCh37 |
Chromosome 3, 145838895: 145838895 |
11 |
PLOD2
|
NM_182943.2(PLOD2): c.338+4G> A
|
single nucleotide variant |
Benign |
rs4681297
|
GRCh38 |
Chromosome 3, 146121108: 146121108 |
12 |
PLOD2
|
NM_182943.2(PLOD2): c.801C> A (p.Asn267Lys)
|
single nucleotide variant |
Uncertain significance |
rs771710305
|
GRCh38 |
Chromosome 3, 146091878: 146091878 |
13 |
PLOD2
|
NM_182943.2(PLOD2): c.801C> A (p.Asn267Lys)
|
single nucleotide variant |
Uncertain significance |
rs771710305
|
GRCh37 |
Chromosome 3, 145809665: 145809665 |