Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24469 | chr2 | 141013536 | T | A |
c.2380+20A>T
|
-
|
- | 3.0 |
|
B | |
| 10278 | chr2 | 141013555 | C | T |
c.2380+1G>A
|
p.?
|
4.0 |
|
B | ||
| 8067 | chr2 | 141013558 | T | C |
c.2378A>G
|
p.Gln793Arg
|
- | 3.0 |
|
B | |
| 10822 | chr2 | 141013603 | C | A |
c.2333G>T
|
p.Arg778Ile
|
- | 3.0 |
|
B | |
| 10600 | chr2 | 141013708 | C | T |
c.2228G>A
|
p.Gly743Glu
|
- | 3.0 |
|
B | |
| 19959 | chr2 | 141015740 | A | G |
c.2146T>C
|
p.Tyr716His
|
3.0 |
|
B | ||
| 18280 | chr2 | 141015887 | C | T |
c.1999G>A
|
p.Asp667Asn
|
- | 3.0 |
|
B | |
| 27012 | chr2 | 141019919 | T | C |
c.1970+3A>G
|
-
|
- | 3.5 |
|
B | |
| 32358 | chr2 | 141019960 | C | G |
c.1932G>C
|
p.Met644Ile
|
- | 3.0 |
|
B | |
| 34756 | chr2 | 141019997 | G | T |
c.1895C>A
|
p.Ala632Asp
|
- | 3.0 |
|
B | |
| 23828 | chr2 | 141020004 | C | T |
c.1888G>A
|
p.Glu630Lys
|
3.0 |
|
B | ||
| 26351 | chr2 | 141020024 | G | A |
c.1868C>T
|
p.Thr623Ile
|
- | 3.0 |
|
B | |
| 1335 | chr2 | 141020068 | C | G |
c.1824G>C
|
p.Trp608Cys
|
- | 3.0 |
|
B | |
| 19261 | chr2 | 141020103 | C | G |
c.1790-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 23128 | chr2 | 141049161 | C | T |
c.1614G>A
|
p.Met538Ile
|
- | 3.0 |
|
B | |
| 20284 | chr2 | 141049183 | C | T |
c.1592G>A
|
p.Arg531His
|
3.0 |
|
B | ||
| 29188 | chr2 | 141049195 | T | G |
c.1580A>C
|
p.Tyr527Ser
|
- | 3.0 |
|
B | |
| 11442 | chr2 | 141049201 | AG | A |
c.1573del
|
p.Leu525SerfsTer16
|
- | 4.0 |
|
B | |
| 2146 | chr2 | 141049219 | G | T |
c.1556C>A
|
p.Pro519Gln
|
3.0 |
|
B | ||
| 18631 | chr2 | 141055105 | T | C |
c.1552+11A>G
|
-
|
- | 3.0 |
|
B |