Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9901 | chr7 | 129211695 | C | A |
c.1861C>A
|
p.His621Asn
|
- | 3.0 |
|
B | |
| 29831 | chr7 | 129212004 | G | C |
c.1937-20G>C
|
-
|
- | 3.0 |
|
B | |
| 1161 | chr7 | 129212099 | G | A |
c.2012G>A
|
p.Arg671Gln
|
3.0 |
|
B | ||
| 15068 | chr7 | 129212243 | G | A |
c.2156G>A
|
p.Trp719Ter
|
3.0 |
|
B | ||
| 22512 | chr7 | 129212282 | T | A |
c.2195T>A
|
p.Leu732Gln
|
- | 3.0 |
|
B | |
| 10342 | chr7 | 129212310 | C | CAG |
c.2224_2225dup
|
p.Ser742ArgfsTer35
|
- | 3.0 |
|
B | |
| 17578 | chr7 | 129212311 | A | G |
c.2224A>G
|
p.Ser742Gly
|
- | 3.0 |
|
B | |
| 10343 | chr7 | 129212313 | TCC | T |
c.2230_2231del
|
p.Pro744SerfsTer72
|
- | 3.0 |
|
B | |
| 21483 | chr7 | 129212372 | G | A |
c.2285G>A
|
p.Arg762His
|
3.0 |
|
B | ||
| 7139 | chr7 | 129212401 | C | T |
c.2314C>T
|
p.Arg772Cys
|
2.5 |
|
B | ||
| 4687 | chr7 | 132796441 | C | T |
c.660+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 17132 | chr7 | 137880570 | G | A |
c.1488-19C>T
|
-
|
- | 3.0 |
|
B | |
| 29419 | chr7 | 137882520 | A | C |
c.1379T>G
|
p.Leu460Arg
|
- | 3.0 |
|
B | |
| 24692 | chr7 | 137882540 | C | A |
c.1359G>T
|
p.Trp453Cys
|
- | 3.0 |
|
B | |
| 11412 | chr7 | 137882628 | A | C |
c.1271T>G
|
p.Val424Gly
|
- | 3.0 |
|
B | |
| 22467 | chr7 | 137901344 | T | G |
c.1043+10A>C
|
-
|
- | 3.0 |
|
B | |
| 32129 | chr7 | 137901382 | T | A |
c.1015A>T
|
p.Lys339Ter
|
- | 3.0 |
|
B | |
| 18396 | chr7 | 137901441 | G | A |
c.975-19C>T
|
-
|
- | 3.0 |
|
B | |
| 25213 | chr7 | 137905740 | TCTC | T |
c.874_876del
|
p.Glu292del
|
- | 3.0 |
|
B | |
| 31773 | chr7 | 137908241 | T | A |
c.768+11A>T
|
-
|
- | 3.0 |
|
B |