Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32920 | chr2 | 106433032 | A | G |
c.2386-14T>C
|
-
|
- | 3.0 |
|
B | |
| 28680 | chr2 | 106436604 | G | A |
c.1459-15C>T
|
-
|
- | 3.0 |
|
B | |
| 26762 | chr2 | 106436609 | G | T |
c.1459-20C>A
|
-
|
- | 3.0 |
|
B | |
| 31881 | chr2 | 106441393 | G | A |
c.979-13C>T
|
-
|
- | 3.0 |
|
B | |
| 35265 | chr2 | 106459264 | C | G |
c.140+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 29236 | chr2 | 106468227 | G | A |
c.62C>T
|
p.Ser21Leu
|
3.0 |
|
B | ||
| 21287 | chr2 | 106468231 | G | A |
c.58C>T
|
p.Pro20Ser
|
3.0 |
|
B | ||
| 9421 | chr2 | 108719639 | C | A |
c.33C>A
|
p.Tyr11Ter
|
- | 3.5 |
|
B | |
| 27826 | chr2 | 108719668 | C | T |
c.62C>T
|
p.Ser21Leu
|
- | 3.0 |
|
B | |
| 30972 | chr2 | 108719681 | G | C |
c.72+3G>C
|
-
|
- | 3.0 |
|
B | |
| 12254 | chr2 | 108719692 | G | C |
c.72+14G>C
|
-
|
- | 3.0 |
|
B | |
| 19385 | chr2 | 108729121 | AT | A |
c.73-3del
|
-
|
3.0 |
|
B | ||
| 14125 | chr2 | 108731375 | A | C |
c.306A>C
|
p.Glu102Asp
|
- | 3.0 |
|
B | |
| 7622 | chr2 | 108731406 | A | G |
c.337A>G
|
p.Arg113Gly
|
- | 3.0 |
|
B | |
| 13605 | chr2 | 108735549 | T | G |
c.423T>G
|
p.Cys141Trp
|
- | 3.0 |
|
B | |
| 11186 | chr2 | 108735736 | A | G |
c.610A>G
|
p.Asn204Asp
|
3.0 |
|
B | ||
| 2967 | chr2 | 108735740 | C | T |
c.614C>T
|
p.Ser205Leu
|
3.0 |
|
B | ||
| 26763 | chr2 | 108751250 | T | A |
c.1274-14T>A
|
-
|
2.0 |
|
B | ||
| 26949 | chr2 | 108751513 | C | T |
c.1456-15C>T
|
-
|
- | 3.0 |
|
B | |
| 26950 | chr2 | 108751535 | T | G |
c.1463T>G
|
p.Leu488Arg
|
- | 3.0 |
|
B |