Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13454 | chr7 | 81702663 | C | A |
c.2105G>T
|
p.Arg702Leu
|
3.0 |
|
B | ||
| 35649 | chr7 | 81702664 | G | A |
c.2104C>T
|
p.Arg702Cys
|
3.0 |
|
B | ||
| 9778 | chr7 | 81702723 | T | G |
c.2045A>C
|
p.His682Pro
|
- | 3.0 |
|
B | |
| 25289 | chr7 | 81705389 | C | G |
c.2010+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 33493 | chr7 | 81705490 | A | G |
c.1910T>C
|
p.Met637Thr
|
- | 3.0 |
|
B | |
| 31504 | chr7 | 81705653 | T | C |
c.1858A>G
|
p.Thr620Ala
|
3.0 |
|
B | ||
| 15188 | chr7 | 81705664 | C | T |
c.1847G>A
|
p.Gly616Asp
|
- | 3.0 |
|
B | |
| 23480 | chr7 | 81705668 | A | G |
c.1843T>C
|
p.Tyr615His
|
- | 3.0 |
|
B | |
| 23648 | chr7 | 81705731 | C | A |
c.1780G>T
|
p.Val594Phe
|
- | 3.0 |
|
B | |
| 1213 | chr7 | 81706298 | C | G |
c.1746G>C
|
p.Met582Ile
|
- | 3.0 |
|
B | |
| 30450 | chr7 | 81706318 | C | T |
c.1726G>A
|
p.Gly576Arg
|
3.0 |
|
B | ||
| 2598 | chr7 | 81707291 | G | A |
c.1615C>T
|
p.Arg539Ter
|
- | 3.0 |
|
B | |
| 35047 | chr7 | 81707349 | G | C |
c.1557C>G
|
p.Cys519Trp
|
- | 3.0 |
|
B | |
| 25341 | chr7 | 81707357 | G | A |
c.1549C>T
|
p.His517Tyr
|
- | 3.0 |
|
B | |
| 3179 | chr7 | 81710231 | G | T |
c.1457C>A
|
p.Ser486Tyr
|
- | 3.0 |
|
B | |
| 34372 | chr7 | 81711472 | A | G |
c.1444+9T>C
|
-
|
- | 3.0 |
|
B | |
| 27823 | chr7 | 81717234 | C | T |
c.1403G>A
|
p.Arg468His
|
3.0 |
|
B | ||
| 8613 | chr7 | 81717265 | G | C |
c.1372C>G
|
p.Leu458Val
|
3.0 |
|
B | ||
| 14595 | chr7 | 81720771 | C | T |
c.1245G>A
|
p.Trp415Ter
|
- | 3.0 |
|
B | |
| 32913 | chr7 | 81720864 | C | T |
c.1169-17G>A
|
-
|
- | 3.0 |
|
B |