1 |
STRADA
|
STRADA, 7-KB DEL
|
deletion |
Pathogenic |
|
|
|
2 |
STRADA
|
NM_001003787.2(STRADA): c.135G> A (p.Ala45=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56163554
|
GRCh37 |
Chromosome 17, 61791457: 61791457 |
3 |
STRADA
|
NM_001003787.2(STRADA): c.135G> A (p.Ala45=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56163554
|
GRCh38 |
Chromosome 17, 63714097: 63714097 |
4 |
STRADA
|
NM_001003787.2(STRADA): c.842dupA (p.Asp281Glufs)
|
duplication |
Pathogenic |
rs886037929
|
GRCh37 |
Chromosome 17, 61784011: 61784011 |
5 |
STRADA
|
NM_001003787.2(STRADA): c.842dupA (p.Asp281Glufs)
|
duplication |
Pathogenic |
rs886037929
|
GRCh38 |
Chromosome 17, 63706651: 63706651 |
6 |
STRADA
|
NM_001003787.2(STRADA): c.368A> G (p.Lys123Arg)
|
single nucleotide variant |
Uncertain significance |
rs1045863605
|
GRCh37 |
Chromosome 17, 61788177: 61788177 |
7 |
STRADA
|
NM_001003787.2(STRADA): c.368A> G (p.Lys123Arg)
|
single nucleotide variant |
Uncertain significance |
rs1045863605
|
GRCh38 |
Chromosome 17, 63710817: 63710817 |
8 |
STRADA
|
NM_001003787.2(STRADA): c.947G> A (p.Arg316His)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 17, 61781854: 61781854 |
9 |
STRADA
|
NM_001003787.2(STRADA): c.947G> A (p.Arg316His)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 17, 63704494: 63704494 |
10 |
STRADA
|
NM_001003787.2(STRADA): c.744C> T (p.Val248=)
|
single nucleotide variant |
Likely benign |
|
GRCh37 |
Chromosome 17, 61784616: 61784616 |
11 |
STRADA
|
NM_001003787.2(STRADA): c.744C> T (p.Val248=)
|
single nucleotide variant |
Likely benign |
|
GRCh38 |
Chromosome 17, 63707256: 63707256 |
12 |
STRADA
|
NM_001003787.2(STRADA): c.296T> C (p.Val99Ala)
|
single nucleotide variant |
Uncertain significance |
rs555623031
|
GRCh37 |
Chromosome 17, 61790818: 61790818 |
13 |
STRADA
|
NM_001003787.2(STRADA): c.296T> C (p.Val99Ala)
|
single nucleotide variant |
Uncertain significance |
rs555623031
|
GRCh38 |
Chromosome 17, 63713458: 63713458 |
14 |
STRADA
|
NM_001003787.2(STRADA): c.582-6C> T
|
single nucleotide variant |
Likely benign |
rs369276577
|
GRCh38 |
Chromosome 17, 63707424: 63707424 |
15 |
STRADA
|
NM_001003787.2(STRADA): c.582-6C> T
|
single nucleotide variant |
Likely benign |
rs369276577
|
GRCh37 |
Chromosome 17, 61784784: 61784784 |
16 |
STRADA
|
NM_001003787.2(STRADA): c.922G> A (p.Glu308Lys)
|
single nucleotide variant |
Uncertain significance |
rs372229032
|
GRCh38 |
Chromosome 17, 63704519: 63704519 |
17 |
STRADA
|
NM_001003787.2(STRADA): c.922G> A (p.Glu308Lys)
|
single nucleotide variant |
Uncertain significance |
rs372229032
|
GRCh37 |
Chromosome 17, 61781879: 61781879 |
18 |
STRADA
|
NM_001003787.2(STRADA): c.736C> T (p.Pro246Ser)
|
single nucleotide variant |
Uncertain significance |
rs201773578
|
GRCh38 |
Chromosome 17, 63707264: 63707264 |
19 |
STRADA
|
NM_001003787.2(STRADA): c.736C> T (p.Pro246Ser)
|
single nucleotide variant |
Uncertain significance |
rs201773578
|
GRCh37 |
Chromosome 17, 61784624: 61784624 |
20 |
STRADA
|
NM_001003787.2(STRADA): c.581+4C> T
|
single nucleotide variant |
Uncertain significance |
rs764367131
|
GRCh38 |
Chromosome 17, 63710487: 63710487 |
21 |
STRADA
|
NM_001003787.2(STRADA): c.581+4C> T
|
single nucleotide variant |
Uncertain significance |
rs764367131
|
GRCh37 |
Chromosome 17, 61787847: 61787847 |
22 |
STRADA
|
NM_001003787.2(STRADA): c.508C> G (p.Leu170Val)
|
single nucleotide variant |
Benign |
rs61734984
|
GRCh38 |
Chromosome 17, 63710564: 63710564 |
23 |
STRADA
|
NM_001003787.2(STRADA): c.508C> G (p.Leu170Val)
|
single nucleotide variant |
Benign |
rs61734984
|
GRCh37 |
Chromosome 17, 61787924: 61787924 |
24 |
STRADA
|
NM_153335.5(STRADA): c.-18C> T
|
single nucleotide variant |
Benign |
rs4968597
|
GRCh37 |
Chromosome 17, 61805747: 61805747 |
25 |
STRADA
|
NM_153335.5(STRADA): c.-18C> T
|
single nucleotide variant |
Benign |
rs4968597
|
GRCh38 |
Chromosome 17, 63728387: 63728387 |
26 |
STRADA
|
NC_000017.11: g.(?_63726618)_(63728389_?)dup
|
duplication |
Uncertain significance |
|
GRCh37 |
Chromosome 17, 61803978: 61805749 |
27 |
STRADA
|
NC_000017.11: g.(?_63726618)_(63728389_?)dup
|
duplication |
Uncertain significance |
|
GRCh38 |
Chromosome 17, 63726618: 63728389 |
28 |
STRADA
|
NM_001003787.2(STRADA): c.32T> G (p.Ile11Ser)
|
single nucleotide variant |
Uncertain significance |
rs377651050
|
GRCh38 |
Chromosome 17, 63728338: 63728338 |
29 |
STRADA
|
NM_001003787.2(STRADA): c.32T> G (p.Ile11Ser)
|
single nucleotide variant |
Uncertain significance |
rs377651050
|
GRCh37 |
Chromosome 17, 61805698: 61805698 |
30 |
STRADA
|
NM_001003787.2(STRADA): c.1184G> A (p.Arg395His)
|
single nucleotide variant |
Uncertain significance |
rs150880597
|
GRCh37 |
Chromosome 17, 61781071: 61781071 |
31 |
STRADA
|
NM_001003787.2(STRADA): c.1184G> A (p.Arg395His)
|
single nucleotide variant |
Uncertain significance |
rs150880597
|
GRCh38 |
Chromosome 17, 63703711: 63703711 |
32 |
STRADA
|
NM_001003787.2(STRADA): c.992C> T (p.Thr331Ile)
|
single nucleotide variant |
Uncertain significance |
rs539671529
|
GRCh37 |
Chromosome 17, 61781809: 61781809 |
33 |
STRADA
|
NM_001003787.2(STRADA): c.992C> T (p.Thr331Ile)
|
single nucleotide variant |
Uncertain significance |
rs539671529
|
GRCh38 |
Chromosome 17, 63704449: 63704449 |
34 |
STRADA
|
NM_001003787.2(STRADA): c.1154G> A (p.Arg385His)
|
single nucleotide variant |
Uncertain significance |
rs751571199
|
GRCh37 |
Chromosome 17, 61781101: 61781101 |
35 |
STRADA
|
NM_001003787.2(STRADA): c.1154G> A (p.Arg385His)
|
single nucleotide variant |
Uncertain significance |
rs751571199
|
GRCh38 |
Chromosome 17, 63703741: 63703741 |
36 |
STRADA
|
NM_001003787.2(STRADA): c.1036C> T (p.Arg346Ter)
|
single nucleotide variant |
Pathogenic |
rs748855607
|
GRCh38 |
Chromosome 17, 63704405: 63704405 |
37 |
STRADA
|
NM_001003787.2(STRADA): c.1036C> T (p.Arg346Ter)
|
single nucleotide variant |
Pathogenic |
rs748855607
|
GRCh37 |
Chromosome 17, 61781765: 61781765 |
38 |
STRADA
|
NM_001003787.2(STRADA): c.619G> C (p.Gly207Arg)
|
single nucleotide variant |
Uncertain significance |
rs745739301
|
GRCh38 |
Chromosome 17, 63707381: 63707381 |
39 |
STRADA
|
NM_001003787.2(STRADA): c.619G> C (p.Gly207Arg)
|
single nucleotide variant |
Uncertain significance |
rs745739301
|
GRCh37 |
Chromosome 17, 61784741: 61784741 |
40 |
STRADA
|
NM_001003787.2(STRADA): c.482C> T (p.Thr161Ile)
|
single nucleotide variant |
Likely benign |
rs61734987
|
GRCh37 |
Chromosome 17, 61787950: 61787950 |
41 |
STRADA
|
NM_001003787.2(STRADA): c.482C> T (p.Thr161Ile)
|
single nucleotide variant |
Likely benign |
rs61734987
|
GRCh38 |
Chromosome 17, 63710590: 63710590 |
42 |
STRADA
|
NM_001003787.2(STRADA): c.37C> T (p.Arg13Trp)
|
single nucleotide variant |
Uncertain significance |
rs35808156
|
GRCh38 |
Chromosome 17, 63726695: 63726695 |
43 |
STRADA
|
NM_001003787.2(STRADA): c.37C> T (p.Arg13Trp)
|
single nucleotide variant |
Uncertain significance |
rs35808156
|
GRCh37 |
Chromosome 17, 61804055: 61804055 |
44 |
STRADA
|
NM_001003787.2(STRADA): c.535G> T (p.Val179Leu)
|
single nucleotide variant |
Uncertain significance |
rs777475313
|
GRCh37 |
Chromosome 17, 61787897: 61787897 |
45 |
STRADA
|
NM_001003787.2(STRADA): c.535G> T (p.Val179Leu)
|
single nucleotide variant |
Uncertain significance |
rs777475313
|
GRCh38 |
Chromosome 17, 63710537: 63710537 |
46 |
STRADA
|
NM_001003787.2(STRADA): c.390C> T (p.Ile130=)
|
single nucleotide variant |
Likely benign |
rs764868771
|
GRCh37 |
Chromosome 17, 61788155: 61788155 |
47 |
STRADA
|
NM_001003787.2(STRADA): c.390C> T (p.Ile130=)
|
single nucleotide variant |
Likely benign |
rs764868771
|
GRCh38 |
Chromosome 17, 63710795: 63710795 |
48 |
STRADA
|
NM_001003787.2(STRADA): c.104C> T (p.Pro35Leu)
|
single nucleotide variant |
Likely benign |
rs143559168
|
GRCh38 |
Chromosome 17, 63723317: 63723317 |
49 |
STRADA
|
NM_001003787.2(STRADA): c.104C> T (p.Pro35Leu)
|
single nucleotide variant |
Likely benign |
rs143559168
|
GRCh37 |
Chromosome 17, 61800677: 61800677 |
50 |
STRADA
|
NM_001003787.2(STRADA): c.95-9C> T
|
single nucleotide variant |
Likely benign |
rs751729626
|
GRCh37 |
Chromosome 17, 61800695: 61800695 |