Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11176 | chr7 | 41966441 | C | T |
c.2632G>A
|
p.Glu878Lys
|
- | 3.0 |
|
B | |
| 10414 | chr7 | 41966449 | C | T |
c.2624G>A
|
p.Arg875His
|
- | 3.0 |
|
B | |
| 31359 | chr7 | 41966485 | C | A |
c.2588G>T
|
p.Arg863Leu
|
- | 3.0 |
|
B | |
| 3177 | chr7 | 41966491 | C | T |
c.2582G>A
|
p.Ser861Asn
|
- | 3.0 |
|
B | |
| 7596 | chr7 | 41966527 | C | T |
c.2546G>A
|
p.Ser849Asn
|
- | 3.0 |
|
B | |
| 18265 | chr7 | 41966561 | C | T |
c.2512G>A
|
p.Val838Ile
|
- | 3.0 |
|
B | |
| 21033 | chr7 | 41966632 | G | T |
c.2441C>A
|
p.Ser814Tyr
|
3.0 |
|
B | ||
| 25501 | chr7 | 41966644 | G | T |
c.2432-3C>A
|
-
|
- | 3.0 |
|
B | |
| 30238 | chr7 | 41967610 | GGA | G |
c.2415_2416del
|
p.Pro806SerfsTer277
|
- | 3.0 |
|
B | |
| 16294 | chr7 | 41967653 | G | A |
c.2374C>T
|
p.Arg792Ter
|
3.0 |
|
B | ||
| 11880 | chr7 | 41967705 | C | T |
c.2322G>A
|
p.Trp774Ter
|
- | 3.0 |
|
B | |
| 27804 | chr7 | 41967721 | G | A |
c.2306C>T
|
p.Pro769Leu
|
2.0 |
|
B | ||
| 8901 | chr7 | 41967793 | T | C |
c.2234A>G
|
p.Asp745Gly
|
- | 3.0 |
|
B | |
| 35681 | chr7 | 41972357 | C | A |
c.2083G>T
|
p.Val695Phe
|
2.5 |
|
B | ||
| 32415 | chr7 | 41972437 | G | A |
c.2003C>T
|
p.Pro668Leu
|
2.5 |
|
B | ||
| 11410 | chr7 | 41972440 | C | G |
c.2000G>C
|
p.Arg667Pro
|
- | 3.0 |
|
B | |
| 8425 | chr7 | 41972476 | T | C |
c.1964A>G
|
p.Asp655Gly
|
- | 3.0 |
|
B | |
| 732 | chr7 | 41972494 | C | T |
c.1946G>A
|
p.Arg649Gln
|
3.0 |
|
B | ||
| 20026 | chr7 | 41972567 | G | A |
c.1873C>T
|
p.Arg625Trp
|
3.0 |
|
B | ||
| 11820 | chr7 | 41972585 | TG | T |
c.1854del
|
p.Tyr618Ter
|
- | 3.0 |
|
B |