Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2353 | chr2 | 211623948 | A | C |
c.2176T>G
|
p.Ser726Ala
|
- | 3.0 |
|
B | |
| 14631 | chr2 | 211623954 | G | A |
c.2170C>T
|
p.Leu724Phe
|
3.0 |
|
B | ||
| 28628 | chr2 | 211623963 | C | A |
c.2161G>T
|
p.Val721Leu
|
- | 3.0 |
|
B | |
| 27637 | chr2 | 211623985 | C | A |
c.2139G>T
|
p.Leu713Phe
|
- | 3.0 |
|
B | |
| 35467 | chr2 | 211624022 | C | T |
c.2102G>A
|
p.Ser701Asn
|
- | 3.0 |
|
B | |
| 28892 | chr2 | 211630444 | G | A |
c.2079+18C>T
|
-
|
- | 3.0 |
|
B | |
| 32166 | chr2 | 211630483 | C | G |
c.2058G>C
|
p.Leu686Phe
|
- | 3.0 |
|
B | |
| 18854 | chr2 | 211630610 | A | C |
c.1947-16T>G
|
-
|
- | 3.0 |
|
B | |
| 25493 | chr2 | 211630611 | G | GA |
c.1947-18dup
|
-
|
1.0 |
|
B | ||
| 13756 | chr2 | 211630611 | GA | G |
c.1947-18del
|
-
|
1.0 |
|
B | ||
| 7640 | chr2 | 211657782 | C | A |
c.1918G>T
|
p.Gly640Cys
|
- | 3.0 |
|
B | |
| 5056 | chr2 | 211665321 | A | G |
c.1871+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 25248 | chr2 | 211665400 | C | A |
c.1794G>T
|
p.Gln598His
|
- | 3.0 |
|
B | |
| 14060 | chr2 | 211665450 | G | C |
c.1744C>G
|
p.His582Asp
|
- | 3.0 |
|
B | |
| 970 | chr2 | 211665475 | A | G |
c.1719T>C
|
p.Gly573=
|
- | 3.0 |
|
B | |
| 25939 | chr2 | 211665477 | C | T |
c.1717G>A
|
p.Gly573Ser
|
3.0 |
|
B | ||
| 7530 | chr2 | 211665479 | T | C |
c.1717-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 19400 | chr2 | 211665493 | G | GA |
c.1717-17dup
|
-
|
2.0 |
|
B | ||
| 11484 | chr2 | 211673164 | C | T |
c.1716G>A
|
p.Pro572=
|
- | 3.0 |
|
B | |
| 26065 | chr2 | 211673169 | C | T |
c.1711G>A
|
p.Gly571Arg
|
- | 3.0 |
|
B |