Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1102 | chr11 | 64809903 | G | GGGGGC |
c.202_206dup
|
p.Asp70ProfsTer51
|
4.0 |
|
B | ||
| 427 | chr11 | 64810025 | G | A |
c.85C>T
|
p.Arg29Ter
|
4.67 |
|
A | ||
| 428 | chr11 | 64810091 | G | A |
c.19C>T
|
p.Gln7Ter
|
4.67 |
|
A | ||
| 9984 | chr11 | 65498945 | C | G |
n.1306C>G
|
-
|
- | 3.0 |
|
B | |
| 30338 | chr11 | 65500908 | G | A |
n.3269G>A
|
-
|
3.0 |
|
B | ||
| 23068 | chr11 | 65501008 | GT | G |
n.3381del
|
-
|
1.5 |
|
B | ||
| 19652 | chr11 | 65501008 | GTT | G |
n.3380_3381del
|
-
|
3.0 |
|
B | ||
| 34938 | chr11 | 65501337 | A | G |
n.3698A>G
|
-
|
3.0 |
|
B | ||
| 20560 | chr11 | 65502515 | T | C |
n.4876T>C
|
-
|
- | 3.0 |
|
B | |
| 35020 | chr11 | 65502586 | G | C |
n.4947G>C
|
-
|
- | 3.0 |
|
B | |
| 32168 | chr11 | 65502682 | A | AT |
n.5044dup
|
-
|
- | 3.0 |
|
B | |
| 7283 | chr11 | 65502704 | A | T |
n.5065A>T
|
-
|
3.0 |
|
B | ||
| 34800 | chr11 | 65503833 | A | ATGAG |
n.6195_6198dup
|
-
|
- | 3.0 |
|
B | |
| 33039 | chr11 | 65504308 | CT | C |
n.6682del
|
-
|
1.5 |
|
B | ||
| 19884 | chr11 | 65506097 | TA | T |
n.8471del
|
-
|
1.0 |
|
B | ||
| 26383 | chr11 | 65506145 | C | T |
n.8506C>T
|
-
|
3.0 |
|
B | ||
| 5195 | chr11 | 65538067 | C | T |
-
c.2132C>T
|
-
p.Ser711Phe
|
- | 3.0 |
|
B | |
| 3317 | chr11 | 65557950 | G | C |
c.10C>G
|
p.Pro4Ala
|
- | 3.0 |
|
B | |
| 4722 | chr11 | 65866003 | T | A |
c.1607T>A
-
|
p.Leu536Gln
-
|
- | 3.0 |
|
B | |
| 841 | chr11 | 67428546 | A | C |
-
c.1A>C
|
-
p.Met1?
|
- | 3.0 |
|
B |