Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4941 | chr10 | 60114313 | C | T |
c.2860G>A
|
p.Glu954Lys
|
3.0 |
|
B | ||
| 13987 | chr10 | 60134302 | A | T |
c.2810T>A
|
p.Ile937Asn
|
- | 3.0 |
|
B | |
| 30622 | chr10 | 60134326 | G | T |
c.2786C>A
|
p.Ser929Tyr
|
- | 3.0 |
|
B | |
| 26099 | chr10 | 60134374 | C | T |
c.2739-1G>A
|
p.?
|
3.0 |
|
B | ||
| 19881 | chr10 | 60138733 | GA | G |
c.2738+230del
|
-
|
1.0 |
|
B | ||
| 19882 | chr10 | 60138733 | GAA | G |
c.2738+229_2738+230del
|
-
|
3.0 |
|
B | ||
| 31364 | chr10 | 60138734 | A | G |
c.2738+230T>C
|
-
|
3.0 |
|
B | ||
| 30783 | chr10 | 60138735 | AAAAAAAAAAGAACACACAATTAACAT | A |
c.2738+203_2738+228del
|
-
|
- | 3.0 |
|
B | |
| 33471 | chr10 | 60140356 | C | T |
c.2615-1269G>A
|
-
|
3.0 |
|
B | ||
| 8821 | chr10 | 60166615 | C | T |
c.2590G>A
|
p.Glu864Lys
|
3.0 |
|
B | ||
| 4947 | chr10 | 60172414 | G | A |
c.2383-11C>T
|
-
|
- | 3.0 |
|
B | |
| 21038 | chr10 | 60186704 | A | G |
c.2085+11T>C
|
-
|
- | 3.0 |
|
B | |
| 29833 | chr10 | 60186834 | C | A |
c.1966G>T
|
p.Asp656Tyr
|
- | 3.0 |
|
B | |
| 12740 | chr10 | 60196589 | C | T |
c.1726G>A
|
p.Gly576Arg
|
3.0 |
|
B | ||
| 11505 | chr10 | 60198322 | T | G |
c.1689+18A>C
|
-
|
- | 3.0 |
|
B | |
| 22896 | chr10 | 60198353 | G | A |
c.1676C>T
|
p.Ser559Phe
|
- | 3.0 |
|
B | |
| 14498 | chr10 | 60200148 | T | G |
c.1472A>C
|
p.Gln491Pro
|
- | 3.0 |
|
B | |
| 34366 | chr10 | 60200154 | C | G |
c.1466G>C
|
p.Gly489Ala
|
- | 3.0 |
|
B | |
| 32377 | chr10 | 60205884 | A | G |
c.1201T>C
|
p.Phe401Leu
|
- | 3.0 |
|
B | |
| 16776 | chr10 | 60208109 | G | A |
c.1121C>T
|
p.Ala374Val
|
- | 3.0 |
|
B |