Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23199 | chr10 | 113152445 | G | A |
c.1269+5G>A
|
-
|
- | 3.0 |
|
B | |
| 4155 | chr10 | 113158664 | C | T |
c.1319-3C>T
|
-
|
- | 3.0 |
|
B | |
| 23939 | chr10 | 113158715 | C | T |
c.1367C>T
|
p.Thr456Ile
|
- | 3.0 |
|
B | |
| 11684 | chr10 | 113159969 | G | T |
c.1419G>T
|
p.Gln473His
|
- | 3.0 |
|
B | |
| 31109 | chr10 | 113160549 | GAGATTTCACATCCAACTGAGCACGACCCACCATTGTGTTGTATTTTTTGTGTTTACCTTATGCTAACAGATGCAAA | G |
c.1442+558_1442+633del
|
-
|
- | 3.5 |
|
B | |
| 14411 | chr10 | 113160663 | C | T |
c.1442+671C>T
|
-
|
- | 3.5 |
|
B | |
| 25226 | chr10 | 113160689 | C | T |
c.1442+697C>T
|
-
|
- | 3.5 |
|
B | |
| 7130 | chr10 | 113165557 | G | GA |
c.1454dup
|
p.Cys486ValfsTer8
|
4.0 |
|
B | ||
| 17559 | chr10 | 113165557 | GA | G |
c.1454del
|
p.Lys485SerfsTer23
|
3.5 |
|
B | ||
| 32498 | chr10 | 113165559 | A | G |
c.1447A>G
|
p.Lys483Glu
|
- | 3.0 |
|
B | |
| 27292 | chr10 | 113165560 | A | C |
c.1448A>C
|
p.Lys483Thr
|
- | 3.0 |
|
B | |
| 6261 | chr10 | 113165574 | C | T |
c.1462C>T
|
p.Arg488Cys
|
3.5 |
|
B | ||
| 12605 | chr10 | 113165643 | C | T |
c.1531C>T
|
p.Pro511Ser
|
3.0 |
|
B | ||
| 35581 | chr10 | 113165733 | G | A |
c.1621G>A
|
p.Asp541Asn
|
3.0 |
|
B | ||
| 26339 | chr10 | 113165848 | C | T |
c.1736C>T
|
p.Ala579Val
|
- | 3.0 |
|
B | |
| 8386 | chr10 | 113165935 | C | T |
c.1823C>T
|
p.Pro608Leu
|
3.0 |
|
B | ||
| 26885 | chr10 | 116901831 | G | T |
c.1607C>A
|
p.Pro536Gln
|
- | 3.0 |
|
B | |
| 30159 | chr10 | 116911833 | G | A |
c.1316C>T
|
p.Ser439Leu
|
3.0 |
|
B | ||
| 33617 | chr10 | 116921497 | G | A |
c.1132C>T
|
p.Arg378Trp
|
3.0 |
|
B | ||
| 30900 | chr10 | 116930015 | T | TA |
c.859-14dup
|
-
|
2.5 |
|
B |