Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1580 | chr2 | 38986224 | C | T |
c.3602G>A
|
p.Arg1201Gln
|
3.0 |
|
B | ||
| 33686 | chr2 | 38987516 | C | T |
c.3467G>A
|
p.Arg1156Gln
|
- | 3.0 |
|
B | |
| 13466 | chr2 | 38987593 | T | G |
c.3392-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 13287 | chr2 | 38995122 | C | G |
c.3346+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 6383 | chr2 | 38995124 | T | G |
c.3345A>C
|
p.Ser1115=
|
- | 3.0 |
|
B | |
| 13941 | chr2 | 38996997 | C | A |
c.3006G>T
|
p.Glu1002Asp
|
- | 3.0 |
|
B | |
| 10742 | chr2 | 38997299 | T | A |
c.2918A>T
|
p.Gln973Leu
|
3.0 |
|
B | ||
| 1665 | chr2 | 38997388 | G | A |
c.2829C>T
|
p.Gly943=
|
- | 3.0 |
|
B | |
| 28798 | chr2 | 39012280 | T | A |
c.2236A>T
|
p.Asn746Tyr
|
- | 3.0 |
|
B | |
| 19246 | chr2 | 39013443 | TA | T |
c.2167+16del
|
-
|
2.0 |
|
B | ||
| 19532 | chr2 | 39013443 | TAA | T |
c.2167+15_2167+16del
|
-
|
3.0 |
|
B | ||
| 28985 | chr2 | 39013471 | C | G |
c.2156G>C
|
p.Gly719Ala
|
2.0 |
|
B | ||
| 14056 | chr2 | 39013479 | T | G |
c.2148A>C
|
p.Glu716Asp
|
- | 3.0 |
|
B | |
| 28986 | chr2 | 39013535 | C | G |
c.2092G>C
|
p.Glu698Gln
|
- | 3.0 |
|
B | |
| 33844 | chr2 | 39013535 | C | T |
c.2092G>A
|
p.Glu698Lys
|
- | 3.0 |
|
B | |
| 6509 | chr2 | 39023131 | C | T |
c.1297G>A
|
p.Glu433Lys
|
3.5 |
|
B | ||
| 6566 | chr2 | 39024008 | A | C |
c.1202+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 10349 | chr2 | 39035475 | G | A |
c.890C>T
|
p.Ser297Leu
|
3.0 |
|
B | ||
| 9271 | chr2 | 39051184 | G | A |
c.824C>T
|
p.Pro275Leu
|
- | 3.0 |
|
B | |
| 7942 | chr2 | 39051194 | C | T |
c.814G>A
|
p.Glu272Lys
|
- | 3.0 |
|
B |