Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19883 | chr10 | 68747145 | CT | C |
c.519-5del
|
-
|
3.0 |
|
B | ||
| 2366 | chr10 | 68747185 | A | C |
c.543A>C
|
p.Gln181His
|
- | 3.0 |
|
B | |
| 5830 | chr10 | 68747381 | C | T |
c.641C>T
|
p.Ser214Leu
|
- | 3.0 |
|
B | |
| 7750 | chr10 | 68747566 | G | A |
c.826G>A
|
p.Ala276Thr
|
- | 3.5 |
|
B | |
| 868 | chr10 | 68749645 | C | T |
c.1078C>T
|
p.Pro360Ser
|
- | 3.0 |
|
B | |
| 5588 | chr10 | 68753907 | A | T |
c.1174A>T
|
p.Ser392Cys
|
- | 3.0 |
|
B | |
| 18592 | chr10 | 68753949 | C | T |
c.1216C>T
|
p.Pro406Ser
|
- | 3.0 |
|
B | |
| 32177 | chr10 | 68754016 | CCTTAGAAAA | C |
c.1284_1292del
|
p.Leu429_Lys431del
|
- | 3.0 |
|
B | |
| 15822 | chr10 | 68761095 | TTAAAG | T |
c.2012_2016del
|
p.Lys671ArgfsTer14
|
- | 3.5 |
|
B | |
| 7645 | chr10 | 68771236 | A | G |
c.2329A>G
|
p.Met777Val
|
- | 3.0 |
|
B | |
| 32153 | chr10 | 68771242 | C | G |
c.2335C>G
|
p.Gln779Glu
|
- | 3.0 |
|
B | |
| 3948 | chr10 | 68771255 | G | T |
c.2348G>T
|
p.Gly783Val
|
- | 3.0 |
|
B | |
| 2553 | chr10 | 68771324 | G | A |
c.2417G>A
|
p.Ser806Asn
|
3.0 |
|
B | ||
| 6965 | chr10 | 68786211 | A | T |
c.2726A>T
|
p.Lys909Ile
|
- | 3.0 |
|
B | |
| 1254 | chr10 | 68786667 | T | G |
c.2855T>G
|
p.Leu952Arg
|
- | 3.0 |
|
B | |
| 1283 | chr10 | 68786670 | G | T |
c.2858G>T
|
p.Gly953Val
|
- | 3.0 |
|
B | |
| 33402 | chr10 | 68791255 | G | T |
c.3442G>T
|
p.Ala1148Ser
|
- | 3.0 |
|
B | |
| 4843 | chr10 | 69880499 | G | C |
c.463-4G>C
|
-
|
3.0 |
|
B | ||
| 3438 | chr10 | 70529947 | G | A |
c.347G>A
|
p.Gly116Glu
|
- | 3.0 |
|
B | |
| 33892 | chr10 | 70597843 | TA | T |
c.*209del
|
-
|
1.0 |
|
B |