Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2802 | chr7 | 152178006 | C | A |
c.7447G>T
|
p.Gly2483Ter
|
4.0 |
|
B | ||
| 27520 | chr7 | 152179892 | G | A |
c.7384C>T
|
p.Gln2462Ter
|
- | 4.0 |
|
B | |
| 17102 | chr7 | 152180008 | C | T |
c.7268G>A
|
p.Trp2423Ter
|
- | 4.0 |
|
B | |
| 24303 | chr7 | 152180871 | G | C |
c.6989C>G
|
p.Ser2330Ter
|
- | 4.0 |
|
B | |
| 17671 | chr7 | 152180974 | G | A |
c.6886C>T
|
p.Arg2296Cys
|
2.5 |
|
B | ||
| 7988 | chr7 | 152181045 | C | CA |
c.6814dup
|
p.Cys2272LeufsTer6
|
- | 4.0 |
|
B | |
| 13219 | chr7 | 152181144 | G | A |
c.6716C>T
|
p.Thr2239Ile
|
- | 3.5 |
|
B | |
| 2226 | chr7 | 152181298 | C | G |
c.6562G>C
|
p.Asp2188His
|
- | 3.0 |
|
B | |
| 6027 | chr7 | 152181354 | G | A |
c.6506C>T
|
p.Thr2169Ile
|
- | 3.0 |
|
B | |
| 13172 | chr7 | 152181492 | G | C |
c.6368C>G
|
p.Ser2123Ter
|
- | 4.0 |
|
B | |
| 10830 | chr7 | 152181586 | C | T |
c.6274G>A
|
p.Asp2092Asn
|
- | 3.0 |
|
B | |
| 27913 | chr7 | 152181676 | G | GT |
c.6183dup
|
p.Gln2062ThrfsTer9
|
- | 4.0 |
|
B | |
| 17643 | chr7 | 152181778 | G | A |
c.6082C>T
|
p.Arg2028Ter
|
4.0 |
|
B | ||
| 25919 | chr7 | 152181808 | G | A |
c.6052C>T
|
p.Gln2018Ter
|
- | 4.0 |
|
B | |
| 1581 | chr7 | 152181874 | T | C |
c.5986A>G
|
p.Lys1996Glu
|
3.0 |
|
B | ||
| 33865 | chr7 | 152182014 | ACAGG | A |
c.5842_5845del
|
p.Pro1948SerfsTer25
|
- | 4.0 |
|
B | |
| 30678 | chr7 | 152182016 | AG | A |
c.5843del
|
p.Pro1948LeufsTer26
|
- | 4.0 |
|
B | |
| 28079 | chr7 | 152182227 | G | C |
c.5633C>G
|
p.Ser1878Ter
|
- | 4.0 |
|
B | |
| 29794 | chr7 | 152182246 | G | A |
c.5614C>T
|
p.Gln1872Ter
|
4.0 |
|
B | ||
| 31035 | chr7 | 152182272 | G | A |
c.5588C>T
|
p.Pro1863Leu
|
- | 3.0 |
|
B |