Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26953 | chr2 | 140541833 | C | T |
c.7333G>A
|
p.Asp2445Asn
|
3.0 |
|
B | ||
| 4199 | chr2 | 140541839 | G | A |
c.7327C>T
|
p.Arg2443Cys
|
3.0 |
|
B | ||
| 10653 | chr2 | 140541842 | G | A |
c.7324C>T
|
p.Leu2442Phe
|
- | 3.0 |
|
B | |
| 16069 | chr2 | 140541904 | G | A |
c.7262C>T
|
p.Ser2421Leu
|
3.0 |
|
B | ||
| 6924 | chr2 | 140541907 | C | A |
c.7259G>T
|
p.Trp2420Leu
|
- | 3.0 |
|
B | |
| 6002 | chr2 | 140541941 | G | T |
c.7225C>A
|
p.Leu2409Ile
|
- | 3.0 |
|
B | |
| 24602 | chr2 | 140541986 | A | C |
c.7195-15T>G
|
-
|
- | 3.0 |
|
B | |
| 31477 | chr2 | 140598611 | G | T |
c.7194+20C>A
|
-
|
3.0 |
|
B | ||
| 28101 | chr2 | 140598704 | G | T |
c.7121C>A
|
p.Ala2374Glu
|
- | 3.0 |
|
B | |
| 19387 | chr2 | 140598707 | C | T |
c.7118G>A
|
p.Arg2373His
|
3.0 |
|
B | ||
| 13014 | chr2 | 140598791 | A | C |
c.7034T>G
|
p.Met2345Arg
|
- | 3.0 |
|
B | |
| 8256 | chr2 | 140598816 | A | G |
c.7009T>C
|
p.Trp2337Arg
|
- | 3.0 |
|
B | |
| 8120 | chr2 | 140601445 | C | A |
c.6989+5G>T
|
-
|
- | 3.5 |
|
B | |
| 29686 | chr2 | 140601456 | C | CA |
c.6982dup
|
p.Cys2328LeufsTer12
|
- | 4.0 |
|
B | |
| 11017 | chr2 | 140601504 | A | T |
c.6935T>A
|
p.Ile2312Asn
|
- | 3.0 |
|
B | |
| 14618 | chr2 | 140601610 | G | A |
c.6829C>T
|
p.His2277Tyr
|
3.0 |
|
B | ||
| 24089 | chr2 | 140601652 | G | A |
c.6800-13C>T
|
-
|
3.0 |
|
B | ||
| 31079 | chr2 | 140700256 | C | A |
c.6793G>T
|
p.Val2265Phe
|
- | 3.0 |
|
B | |
| 28947 | chr2 | 140700282 | T | C |
c.6767A>G
|
p.Asp2256Gly
|
- | 3.0 |
|
B | |
| 10287 | chr2 | 140700370 | A | C |
c.6679T>G
|
p.Leu2227Val
|
- | 3.0 |
|
B |