Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1099 | chr7 | 107786831 | G | A |
c.967C>T
|
p.Pro323Ser
|
- | 3.0 |
|
B | |
| 23055 | chr7 | 107786842 | C | T |
c.956G>A
|
p.Gly319Glu
|
- | 3.0 |
|
B | |
| 32028 | chr7 | 107786881 | C | A |
c.917G>T
|
p.Gly306Val
|
- | 3.0 |
|
B | |
| 10258 | chr7 | 107787356 | C | T |
c.888+1G>A
|
p.?
|
3.0 |
|
B | ||
| 18582 | chr7 | 107789603 | A | T |
c.656T>A
|
p.Val219Asp
|
- | 3.0 |
|
B | |
| 8777 | chr7 | 107789663 | C | T |
c.596G>A
|
p.Gly199Glu
|
- | 3.0 |
|
B | |
| 17063 | chr7 | 107791080 | C | T |
c.538G>A
|
p.Ala180Thr
|
3.0 |
|
B | ||
| 31907 | chr7 | 107791082 | G | T |
c.536C>A
|
p.Ala179Glu
|
- | 3.0 |
|
B | |
| 26302 | chr7 | 107791155 | T | G |
c.463A>C
|
p.Thr155Pro
|
- | 3.0 |
|
B | |
| 16327 | chr7 | 107791835 | G | A |
c.377C>T
|
p.Ser126Phe
|
- | 3.0 |
|
B | |
| 6048 | chr7 | 107791886 | G | A |
c.326C>T
|
p.Ser109Phe
|
- | 3.0 |
|
B | |
| 2825 | chr7 | 107793736 | T | A |
c.271+6A>T
|
-
|
3.0 |
|
B | ||
| 4021 | chr7 | 107793762 | C | T |
c.251G>A
|
p.Gly84Glu
|
- | 3.0 |
|
B | |
| 30313 | chr7 | 107793824 | C | T |
c.189G>A
|
p.Trp63Ter
|
3.0 |
|
B | ||
| 23337 | chr7 | 107793884 | G | A |
c.132-3C>T
|
-
|
- | 3.0 |
|
B | |
| 9401 | chr7 | 107794467 | C | A |
c.43G>T
|
p.Val15Leu
|
- | 3.0 |
|
B | |
| 20033 | chr7 | 108565081 | AT | A |
c.297del
-
|
p.Lys99AsnfsTer25
-
|
3.0 |
|
B | ||
| 23485 | chr7 | 114629960 | ACAGCAG | A |
c.564_569del
|
p.Gln190_Gln191del
|
3.0 |
|
B | ||
| 35048 | chr7 | 114629964 | C | A |
c.556C>A
|
p.Gln186Lys
|
- | 3.0 |
|
B | |
| 3420 | chr7 | 114689801 | G | A |
c.2023G>A
|
p.Glu675Lys
|
- | 3.0 |
|
B |