1 |
MMP9
|
NM_004994.2(MMP9): c.1721G> C (p.Arg574Pro)
|
single nucleotide variant |
Benign |
rs2250889
|
GRCh37 |
Chromosome 20, 44642406: 44642406 |
2 |
MMP9
|
NM_004994.2(MMP9): c.1721G> C (p.Arg574Pro)
|
single nucleotide variant |
Benign |
rs2250889
|
GRCh38 |
Chromosome 20, 46013767: 46013767 |
3 |
MMP9
|
NM_004994.2(MMP9): c.1821A> C (p.Gly607=)
|
single nucleotide variant |
Benign |
rs13969
|
GRCh37 |
Chromosome 20, 44642833: 44642833 |
4 |
MMP9
|
NM_004994.2(MMP9): c.1821A> C (p.Gly607=)
|
single nucleotide variant |
Benign |
rs13969
|
GRCh38 |
Chromosome 20, 46014194: 46014194 |
5 |
MMP13
|
NM_002427.3(MMP13): c.*885A> G
|
single nucleotide variant |
Benign |
rs1042840
|
GRCh37 |
Chromosome 11, 102814110: 102814110 |
6 |
MMP13
|
NM_002427.3(MMP13): c.*885A> G
|
single nucleotide variant |
Benign |
rs1042840
|
GRCh38 |
Chromosome 11, 102943381: 102943381 |
7 |
MMP13
|
NM_002427.3(MMP13): c.*849dupT
|
duplication |
Uncertain significance |
rs886047552
|
GRCh37 |
Chromosome 11, 102814146: 102814146 |
8 |
MMP13
|
NM_002427.3(MMP13): c.*849dupT
|
duplication |
Uncertain significance |
rs886047552
|
GRCh38 |
Chromosome 11, 102943417: 102943417 |
9 |
MMP13
|
NM_002427.3(MMP13): c.*436G> C
|
single nucleotide variant |
Uncertain significance |
rs886047555
|
GRCh37 |
Chromosome 11, 102814559: 102814559 |
10 |
MMP13
|
NM_002427.3(MMP13): c.*436G> C
|
single nucleotide variant |
Uncertain significance |
rs886047555
|
GRCh38 |
Chromosome 11, 102943830: 102943830 |
11 |
MMP13
|
NM_002427.3(MMP13): c.*275T> C
|
single nucleotide variant |
Uncertain significance |
rs781825443
|
GRCh37 |
Chromosome 11, 102814720: 102814720 |
12 |
MMP13
|
NM_002427.3(MMP13): c.*275T> C
|
single nucleotide variant |
Uncertain significance |
rs781825443
|
GRCh38 |
Chromosome 11, 102943991: 102943991 |
13 |
MMP13
|
NM_002427.3(MMP13): c.1169A> G (p.Asp390Gly)
|
single nucleotide variant |
Likely benign |
rs17860568
|
GRCh37 |
Chromosome 11, 102818662: 102818662 |
14 |
MMP13
|
NM_002427.3(MMP13): c.1169A> G (p.Asp390Gly)
|
single nucleotide variant |
Likely benign |
rs17860568
|
GRCh38 |
Chromosome 11, 102947933: 102947933 |
15 |
MMP13
|
NM_002427.3(MMP13): c.138C> T (p.Tyr46=)
|
single nucleotide variant |
Likely benign |
rs200537937
|
GRCh38 |
Chromosome 11, 102955476: 102955476 |
16 |
MMP13
|
NM_002427.3(MMP13): c.138C> T (p.Tyr46=)
|
single nucleotide variant |
Likely benign |
rs200537937
|
GRCh37 |
Chromosome 11, 102826205: 102826205 |
17 |
MMP13
|
NM_002427.3(MMP13): c.*1102T> C
|
single nucleotide variant |
Uncertain significance |
rs886047550
|
GRCh37 |
Chromosome 11, 102813893: 102813893 |
18 |
MMP13
|
NM_002427.3(MMP13): c.*1102T> C
|
single nucleotide variant |
Uncertain significance |
rs886047550
|
GRCh38 |
Chromosome 11, 102943164: 102943164 |
19 |
MMP13
|
NM_002427.3(MMP13): c.*997dupT
|
duplication |
Benign |
rs35477433
|
GRCh37 |
Chromosome 11, 102813998: 102813998 |
20 |
MMP13
|
NM_002427.3(MMP13): c.*997dupT
|
duplication |
Benign |
rs35477433
|
GRCh38 |
Chromosome 11, 102943269: 102943269 |
21 |
MMP13
|
NM_002427.3(MMP13): c.*374_*376dupCAT
|
duplication |
Uncertain significance |
rs886047556
|
GRCh37 |
Chromosome 11, 102814619: 102814621 |
22 |
MMP13
|
NM_002427.3(MMP13): c.*374_*376dupCAT
|
duplication |
Uncertain significance |
rs886047556
|
GRCh38 |
Chromosome 11, 102943890: 102943892 |
23 |
MMP13
|
NM_002427.3(MMP13): c.1082A> G (p.Asp361Gly)
|
single nucleotide variant |
Uncertain significance |
rs145425594
|
GRCh37 |
Chromosome 11, 102818749: 102818749 |
24 |
MMP13
|
NM_002427.3(MMP13): c.1082A> G (p.Asp361Gly)
|
single nucleotide variant |
Uncertain significance |
rs145425594
|
GRCh38 |
Chromosome 11, 102948020: 102948020 |
25 |
MMP13
|
NM_002427.3(MMP13): c.968C> T (p.Thr323Met)
|
single nucleotide variant |
Likely benign |
rs185832993
|
GRCh37 |
Chromosome 11, 102819837: 102819837 |
26 |
MMP13
|
NM_002427.3(MMP13): c.968C> T (p.Thr323Met)
|
single nucleotide variant |
Likely benign |
rs185832993
|
GRCh38 |
Chromosome 11, 102949108: 102949108 |
27 |
MMP13
|
NM_002427.3(MMP13): c.935A> G (p.His312Arg)
|
single nucleotide variant |
Likely benign |
rs142601143
|
GRCh37 |
Chromosome 11, 102819870: 102819870 |
28 |
MMP13
|
NM_002427.3(MMP13): c.935A> G (p.His312Arg)
|
single nucleotide variant |
Likely benign |
rs142601143
|
GRCh38 |
Chromosome 11, 102949141: 102949141 |
29 |
MMP13
|
NM_002427.3(MMP13): c.686G> T (p.Gly229Val)
|
single nucleotide variant |
Uncertain significance |
rs782723542
|
GRCh38 |
Chromosome 11, 102952125: 102952125 |
30 |
MMP13
|
NM_002427.3(MMP13): c.686G> T (p.Gly229Val)
|
single nucleotide variant |
Uncertain significance |
rs782723542
|
GRCh37 |
Chromosome 11, 102822854: 102822854 |
31 |
MMP13
|
NM_002427.3(MMP13): c.*1007T> C
|
single nucleotide variant |
Uncertain significance |
rs886047551
|
GRCh37 |
Chromosome 11, 102813988: 102813988 |
32 |
MMP13
|
NM_002427.3(MMP13): c.*1007T> C
|
single nucleotide variant |
Uncertain significance |
rs886047551
|
GRCh38 |
Chromosome 11, 102943259: 102943259 |
33 |
MMP13
|
NM_002427.3(MMP13): c.*771T> G
|
single nucleotide variant |
Uncertain significance |
rs886047553
|
GRCh37 |
Chromosome 11, 102814224: 102814224 |
34 |
MMP13
|
NM_002427.3(MMP13): c.*771T> G
|
single nucleotide variant |
Uncertain significance |
rs886047553
|
GRCh38 |
Chromosome 11, 102943495: 102943495 |
35 |
MMP13
|
NM_002427.3(MMP13): c.*756A> G
|
single nucleotide variant |
Uncertain significance |
rs886047554
|
GRCh37 |
Chromosome 11, 102814239: 102814239 |
36 |
MMP13
|
NM_002427.3(MMP13): c.*756A> G
|
single nucleotide variant |
Uncertain significance |
rs886047554
|
GRCh38 |
Chromosome 11, 102943510: 102943510 |
37 |
MMP13
|
NM_002427.3(MMP13): c.*628A> G
|
single nucleotide variant |
Likely benign |
rs114428333
|
GRCh37 |
Chromosome 11, 102814367: 102814367 |
38 |
MMP13
|
NM_002427.3(MMP13): c.*628A> G
|
single nucleotide variant |
Likely benign |
rs114428333
|
GRCh38 |
Chromosome 11, 102943638: 102943638 |
39 |
MMP13
|
NM_002427.3(MMP13): c.*426A> G
|
single nucleotide variant |
Likely benign |
rs182315436
|
GRCh37 |
Chromosome 11, 102814569: 102814569 |
40 |
MMP13
|
NM_002427.3(MMP13): c.*426A> G
|
single nucleotide variant |
Likely benign |
rs182315436
|
GRCh38 |
Chromosome 11, 102943840: 102943840 |
41 |
MMP13
|
NM_002427.3(MMP13): c.*314T> C
|
single nucleotide variant |
Likely benign |
rs17860584
|
GRCh37 |
Chromosome 11, 102814681: 102814681 |
42 |
MMP13
|
NM_002427.3(MMP13): c.*314T> C
|
single nucleotide variant |
Likely benign |
rs17860584
|
GRCh38 |
Chromosome 11, 102943952: 102943952 |
43 |
MMP13
|
NM_002427.3(MMP13): c.*160G> A
|
single nucleotide variant |
Likely benign |
rs17860583
|
GRCh37 |
Chromosome 11, 102814835: 102814835 |
44 |
MMP13
|
NM_002427.3(MMP13): c.*160G> A
|
single nucleotide variant |
Likely benign |
rs17860583
|
GRCh38 |
Chromosome 11, 102944106: 102944106 |
45 |
MMP13
|
NM_002427.3(MMP13): c.1123C> T (p.Leu375Phe)
|
single nucleotide variant |
Uncertain significance |
rs886047557
|
GRCh37 |
Chromosome 11, 102818708: 102818708 |
46 |
MMP13
|
NM_002427.3(MMP13): c.1123C> T (p.Leu375Phe)
|
single nucleotide variant |
Uncertain significance |
rs886047557
|
GRCh38 |
Chromosome 11, 102947979: 102947979 |
47 |
MMP13
|
NM_002427.3(MMP13): c.1080T> C (p.Tyr360=)
|
single nucleotide variant |
Likely benign |
rs61737008
|
GRCh37 |
Chromosome 11, 102818751: 102818751 |
48 |
MMP13
|
NM_002427.3(MMP13): c.1080T> C (p.Tyr360=)
|
single nucleotide variant |
Likely benign |
rs61737008
|
GRCh38 |
Chromosome 11, 102948022: 102948022 |
49 |
MMP13
|
NM_002427.3(MMP13): c.951T> G (p.Asp317Glu)
|
single nucleotide variant |
Uncertain significance |
rs367612153
|
GRCh37 |
Chromosome 11, 102819854: 102819854 |
50 |
MMP13
|
NM_002427.3(MMP13): c.951T> G (p.Asp317Glu)
|
single nucleotide variant |
Uncertain significance |
rs367612153
|
GRCh38 |
Chromosome 11, 102949125: 102949125 |