Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6281 | chr5 | 177295175 | C | G |
c.7807C>G
|
p.Leu2603Val
|
3.0 |
|
B | ||
| 33476 | chr5 | 177302109 | G | A |
-
-
c.484+19C>T
|
-
-
-
|
- | 3.0 |
|
B | |
| 15087 | chr5 | 177511880 | C | G |
c.1780G>C
-
|
p.Asp594His
-
|
3.0 |
|
B | ||
| 22649 | chr5 | 177512535 | C | T |
c.1510G>A
-
|
p.Val504Ile
-
|
3.0 |
|
B | ||
| 20489 | chr5 | 177512594 | T | C |
c.1451A>G
-
|
p.Asp484Gly
-
|
- | 3.0 |
|
B | |
| 23046 | chr5 | 177512609 | C | T |
c.1436G>A
-
|
p.Arg479Gln
-
|
3.0 |
|
B | ||
| 17028 | chr5 | 177512763 | G | T |
c.1399+17C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 30119 | chr5 | 177513399 | G | A |
c.1184C>T
-
|
p.Thr395Ile
-
|
- | 3.0 |
|
B | |
| 24518 | chr5 | 177513665 | T | G |
c.1098+20A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 34472 | chr5 | 177514698 | C | G |
c.935+3G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 13185 | chr5 | 177514750 | G | A |
c.886C>T
-
|
p.Leu296Phe
-
|
3.0 |
|
B | ||
| 28136 | chr5 | 177515086 | A | G |
-
c.645-17T>C
|
-
-
|
- | 3.0 |
|
B | |
| 32108 | chr5 | 177515232 | C | T |
-
c.598G>A
|
-
p.Gly200Ser
|
3.0 |
|
B | ||
| 30828 | chr5 | 177515691 | G | A |
-
c.565C>T
|
-
p.Pro189Ser
|
3.0 |
|
B | ||
| 15244 | chr5 | 177516100 | A | G |
-
c.373+19T>C
|
-
-
|
2.5 |
|
B | ||
| 18575 | chr5 | 177516155 | C | T |
-
c.337G>A
|
-
p.Glu113Lys
|
- | 3.0 |
|
B | |
| 17288 | chr5 | 177516195 | T | G |
-
c.299-2A>C
|
-
p.?
|
- | 3.5 |
|
B | |
| 17075 | chr5 | 177516811 | C | T |
-
c.52G>A
|
-
p.Ala18Thr
|
2.5 |
|
B | ||
| 22648 | chr5 | 177516919 | C | T |
-
c.27G>A
|
-
p.Lys9=
|
3.5 |
|
B | ||
| 24804 | chr5 | 178149856 | G | A |
c.*1824G>A
c.337-18C>T
|
-
-
|
2.5 |
|
B |