Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17330 | chr11 | 61316406 | G | A |
c.1302-13C>T
|
-
|
- | 3.0 |
|
B | |
| 35442 | chr11 | 61316510 | G | C |
c.1283C>G
|
p.Ser428Cys
|
- | 3.0 |
|
B | |
| 25479 | chr11 | 61316525 | T | G |
c.1268A>C
|
p.Asp423Ala
|
3.0 |
|
B | ||
| 22164 | chr11 | 61323092 | G | T |
c.924C>A
|
p.Thr308=
|
- | 3.0 |
|
B | |
| 7310 | chr11 | 61323975 | C | G |
c.921+4G>C
|
-
|
- | 3.0 |
|
B | |
| 23658 | chr11 | 61325605 | G | A |
c.762+6C>T
|
-
|
2.0 |
|
B | ||
| 16783 | chr11 | 61326893 | C | T |
c.550G>A
|
p.Asp184Asn
|
- | 3.0 |
|
B | |
| 19651 | chr11 | 61326895 | TG | T |
c.550-3del
|
-
|
3.0 |
|
B | ||
| 30285 | chr11 | 61326901 | G | A |
c.550-8C>T
|
-
|
- | 3.0 |
|
B | |
| 22453 | chr11 | 61329440 | G | A |
c.472C>T
-
|
p.Arg158Cys
-
|
- | 3.0 |
|
B | |
| 29648 | chr11 | 61329602 | G | A |
c.328-18C>T
-
|
-
-
|
3.0 |
|
B | ||
| 15715 | chr11 | 61331599 | C | T |
c.154G>A
-
|
p.Val52Ile
-
|
3.0 |
|
B | ||
| 30010 | chr11 | 61429803 | C | T |
c.-56+111G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 33154 | chr11 | 61430169 | C | A |
-
c.23C>A
|
-
p.Ser8Ter
|
4.0 |
|
B | ||
| 8924 | chr11 | 61430175 | C | T |
-
c.29C>T
|
-
p.Ser10Leu
|
3.0 |
|
B | ||
| 6500 | chr11 | 61437821 | G | A |
c.233G>A
|
p.Gly78Glu
|
3.0 |
|
B | ||
| 33445 | chr11 | 61437851 | A | G |
c.260+3A>G
|
-
|
3.0 |
|
B | ||
| 35335 | chr11 | 61437989 | C | A |
c.261-15C>A
|
-
|
- | 3.0 |
|
B | |
| 31524 | chr11 | 61438303 | G | A |
c.370+190G>A
|
-
|
3.0 |
|
B | ||
| 31283 | chr11 | 61445978 | C | T |
c.408C>T
|
p.Val136=
|
- | 3.0 |
|
B |