Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18985 | chr2 | 178776610 | G | A |
c.5254C>T
|
p.Arg1752Cys
|
3.0 |
|
B | ||
| 32261 | chr2 | 178776723 | A | C |
c.5141T>G
|
p.Leu1714Arg
|
- | 3.0 |
|
B | |
| 15169 | chr2 | 178776832 | C | G |
c.5032G>C
|
p.Glu1678Gln
|
- | 3.0 |
|
B | |
| 34883 | chr2 | 178776845 | T | TGCAATCTCCTTTGCTCTATATGTCCC |
c.4993_5018dup
|
p.Ala1674GlyfsTer48
|
- | 3.0 |
|
B | |
| 17722 | chr2 | 178776874 | G | A |
c.4990C>T
|
p.Arg1664Trp
|
2.5 |
|
B | ||
| 19297 | chr2 | 178776924 | A | G |
c.4940T>C
|
p.Val1647Ala
|
- | 3.0 |
|
B | |
| 26260 | chr2 | 178777027 | C | T |
c.4837G>A
|
p.Ala1613Thr
|
3.0 |
|
B | ||
| 19545 | chr2 | 178777197 | C | T |
c.4766G>A
|
p.Trp1589Ter
|
- | 3.0 |
|
B | |
| 22715 | chr2 | 178777410 | C | T |
c.4645+10G>A
|
-
|
- | 3.0 |
|
B | |
| 31962 | chr2 | 178777474 | C | A |
c.4591G>T
|
p.Val1531Phe
|
- | 3.0 |
|
B | |
| 28456 | chr2 | 178777580 | C | A |
c.4485G>T
|
p.Gln1495His
|
- | 3.0 |
|
B | |
| 14022 | chr2 | 178777760 | C | A |
c.4424G>T
|
p.Arg1475Ile
|
3.0 |
|
B | ||
| 35155 | chr2 | 178777778 | A | T |
c.4406T>A
|
p.Leu1469Ter
|
- | 3.0 |
|
B | |
| 34055 | chr2 | 178777838 | G | C |
c.4346C>G
|
p.Ser1449Ter
|
- | 3.0 |
|
B | |
| 18073 | chr2 | 178777854 | C | T |
c.4330G>A
|
p.Glu1444Lys
|
- | 3.0 |
|
B | |
| 28476 | chr2 | 178777883 | G | T |
c.4301C>A
|
p.Pro1434His
|
- | 3.0 |
|
B | |
| 25218 | chr2 | 178777979 | C | T |
c.4209-4G>A
|
-
|
- | 3.0 |
|
B | |
| 35593 | chr2 | 178777991 | A | G |
c.4209-16T>C
|
-
|
2.0 |
|
B | ||
| 28307 | chr2 | 178779233 | G | T |
c.3959C>A
|
p.Pro1320Gln
|
- | 3.0 |
|
B | |
| 30219 | chr2 | 178779261 | G | A |
c.3931C>T
|
p.His1311Tyr
|
- | 3.0 |
|
B |