Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26670 | chr2 | 197402103 | CGAACTTTCT | C |
c.2096_2104del
|
p.Gln699_Val701del
|
- | 3.5 |
|
B | |
| 10169 | chr2 | 197402107 | C | A |
c.2101G>T
|
p.Val701Phe
|
- | 3.5 |
|
B | |
| 8963 | chr2 | 197402110 | T | C |
c.2098A>G
|
p.Lys700Glu
|
4.5 |
|
B | ||
| 35429 | chr2 | 197402635 | C | G |
c.1998G>C
|
p.Lys666Asn
|
4.0 |
|
B | ||
| 139 | chr2 | 197402636 | T | G |
c.1997A>C
|
p.Lys666Thr
|
4.33 |
|
A | ||
| 878 | chr2 | 197402646 | T | G |
c.1987A>C
|
p.Thr663Pro
|
- | 3.0 |
|
B | |
| 10672 | chr2 | 197402648 | T | G |
c.1985A>C
|
p.His662Pro
|
- | 3.5 |
|
B | |
| 8677 | chr2 | 197402649 | G | A |
c.1984C>T
|
p.His662Tyr
|
3.5 |
|
B | ||
| 12936 | chr2 | 197402649 | G | C |
c.1984C>G
|
p.His662Asp
|
- | 4.0 |
|
B | |
| 6986 | chr2 | 197402727 | C | G |
c.1906G>C
|
p.Ala636Pro
|
- | 3.0 |
|
B | |
| 14494 | chr2 | 197402759 | C | A |
c.1874G>T
|
p.Arg625Leu
|
4.0 |
|
B | ||
| 140 | chr2 | 197402759 | C | T |
c.1874G>A
|
p.Arg625His
|
4.67 |
|
A | ||
| 141 | chr2 | 197402760 | G | A |
c.1873C>T
|
p.Arg625Cys
|
4.67 |
|
A | ||
| 7665 | chr2 | 197402767 | C | A |
c.1866G>T
|
p.Glu622Asp
|
3.0 |
|
B | ||
| 1311 | chr2 | 197402974 | C | T |
c.1781G>A
|
p.Arg594Gln
|
- | 3.0 |
|
B | |
| 13606 | chr2 | 197402984 | C | T |
c.1771G>A
|
p.Val591Met
|
- | 3.0 |
|
B | |
| 7838 | chr2 | 197403016 | G | A |
c.1739C>T
|
p.Pro580Leu
|
- | 3.0 |
|
B | |
| 35157 | chr2 | 197403780 | G | A |
c.1540-16C>T
|
-
|
- | 3.0 |
|
B | |
| 7957 | chr2 | 197405097 | A | T |
c.1518T>A
|
p.Asn506Lys
|
- | 3.0 |
|
B | |
| 18352 | chr2 | 197405319 | G | A |
c.1393C>T
|
p.Pro465Ser
|
- | 3.0 |
|
B |