Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26852 | chr7 | 142941377 | C | T |
c.2074G>A
-
|
p.Asp692Asn
-
|
3.0 |
|
B | ||
| 8182 | chr7 | 142941388 | TG | T |
c.2062del
-
|
p.Gln688ArgfsTer36
-
|
- | 3.0 |
|
B | |
| 17133 | chr7 | 142941422 | G | A |
c.2038-9C>T
-
|
-
-
|
3.0 |
|
B | ||
| 16755 | chr7 | 142942483 | G | A |
c.1988C>T
-
|
p.Pro663Leu
-
|
- | 3.0 |
|
B | |
| 2661 | chr7 | 142942508 | G | A |
c.1963C>T
-
|
p.Arg655Trp
-
|
3.0 |
|
B | ||
| 27118 | chr7 | 142942930 | G | A |
c.1886C>T
-
|
p.Ser629Phe
-
|
- | 3.0 |
|
B | |
| 11798 | chr7 | 142942979 | G | A |
c.1837C>T
-
|
p.Arg613Cys
-
|
3.0 |
|
B | ||
| 26669 | chr7 | 142943268 | T | A |
c.1771+8A>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 21394 | chr7 | 142943323 | G | T |
c.1724C>A
-
|
p.Ala575Asp
-
|
- | 3.0 |
|
B | |
| 11546 | chr7 | 142943508 | A | G |
c.1681T>C
-
|
p.Phe561Leu
-
|
- | 3.0 |
|
B | |
| 7760 | chr7 | 142943543 | A | T |
c.1646T>A
-
|
p.Val549Glu
-
|
- | 3.0 |
|
B | |
| 11274 | chr7 | 142943769 | C | G |
c.1592+14G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 23489 | chr7 | 142943793 | G | T |
c.1582C>A
-
|
p.Pro528Thr
-
|
3.0 |
|
B | ||
| 33021 | chr7 | 142943830 | G | C |
c.1545C>G
-
|
p.Leu515=
-
|
3.0 |
|
B | ||
| 18120 | chr7 | 142943855 | G | A |
c.1520C>T
-
|
p.Ser507Phe
-
|
3.0 |
|
B | ||
| 7761 | chr7 | 142943887 | G | T |
c.1492-4C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 1925 | chr7 | 142944327 | T | C |
c.1487A>G
-
|
p.Asn496Ser
-
|
3.0 |
|
B | ||
| 20711 | chr7 | 142944340 | G | A |
c.1474C>T
-
|
p.Arg492Ter
-
|
3.0 |
|
B | ||
| 30835 | chr7 | 142944361 | C | T |
c.1453G>A
-
|
p.Ala485Thr
-
|
- | 3.0 |
|
B | |
| 10185 | chr7 | 142944363 | C | T |
c.1451G>A
-
|
p.Trp484Ter
-
|
- | 3.0 |
|
B |