Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18361 | chr2 | 120990115 | C | A |
c.4150C>A
|
p.His1384Asn
|
- | 3.0 |
|
B | |
| 18379 | chr2 | 120990181 | A | T |
c.4216A>T
|
p.Asn1406Tyr
|
- | 3.0 |
|
B | |
| 13785 | chr2 | 120990242 | G | A |
c.4277G>A
|
p.Ser1426Asn
|
3.0 |
|
B | ||
| 27665 | chr2 | 120990304 | G | A |
c.4339G>A
|
p.Gly1447Arg
|
3.0 |
|
B | ||
| 29601 | chr2 | 120990563 | C | T |
c.4598C>T
|
p.Ser1533Phe
|
- | 3.0 |
|
B | |
| 9867 | chr2 | 120990641 | C | T |
c.4676C>T
|
p.Ala1559Val
|
- | 3.0 |
|
B | |
| 28156 | chr2 | 127259379 | G | C |
c.2134C>G
|
p.Leu712Val
|
- | 3.0 |
|
B | |
| 12874 | chr2 | 127259402 | G | A |
c.2111C>T
|
p.Ser704Leu
|
2.0 |
|
B | ||
| 8180 | chr2 | 127271428 | G | A |
c.1853C>T
|
p.Pro618Leu
|
3.0 |
|
B | ||
| 13370 | chr2 | 127272911 | T | G |
c.1781A>C
|
p.Gln594Pro
|
- | 3.0 |
|
B | |
| 31242 | chr2 | 127272933 | C | A |
c.1759G>T
|
p.Gly587Trp
|
- | 3.0 |
|
B | |
| 34983 | chr2 | 127279269 | T | A |
c.1634A>T
|
p.Gln545Leu
|
- | 3.0 |
|
B | |
| 18277 | chr2 | 127279390 | G | A |
c.1528-15C>T
|
-
|
2.5 |
|
B | ||
| 9223 | chr2 | 127280495 | C | T |
c.1479G>A
|
p.Trp493Ter
|
- | 4.0 |
|
B | |
| 18990 | chr2 | 127280547 | T | G |
c.1427A>C
|
p.Lys476Thr
|
- | 3.0 |
|
B | |
| 18991 | chr2 | 127280640 | A | G |
c.1343-9T>C
|
-
|
- | 3.0 |
|
B | |
| 19260 | chr2 | 127286793 | T | G |
c.1252A>C
|
p.Lys418Gln
|
- | 3.0 |
|
B | |
| 29546 | chr2 | 127286927 | T | G |
c.1118A>C
|
p.Gln373Pro
|
- | 3.0 |
|
B | |
| 18278 | chr2 | 127288734 | G | A |
c.953C>T
|
p.Pro318Leu
|
3.0 |
|
B | ||
| 22077 | chr2 | 127288776 | G | A |
c.911C>T
|
p.Pro304Leu
|
- | 3.0 |
|
B |