Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25709 | chr2 | 178541297 | C | A |
c.97780G>T
|
p.Ala32594Ser
|
- | 3.0 |
|
B | |
| 26210 | chr2 | 178541378 | C | T |
c.97699G>A
|
p.Gly32567Ser
|
3.0 |
|
B | ||
| 18059 | chr2 | 178541444 | G | A |
c.97633C>T
|
p.Arg32545Ter
|
3.0 |
|
B | ||
| 35591 | chr2 | 178541449 | G | C |
c.97628C>G
|
p.Ala32543Gly
|
3.0 |
|
B | ||
| 30353 | chr2 | 178542398 | G | A |
c.97358C>T
|
p.Ser32453Leu
|
- | 3.0 |
|
B | |
| 8289 | chr2 | 178542528 | C | T |
c.97228G>A
|
p.Asp32410Asn
|
- | 3.0 |
|
B | |
| 18549 | chr2 | 178542935 | C | T |
c.96919G>A
|
p.Asp32307Asn
|
2.5 |
|
B | ||
| 14386 | chr2 | 178543303 | C | T |
c.96670G>A
|
p.Glu32224Lys
|
- | 3.0 |
|
B | |
| 24090 | chr2 | 178543440 | C | G |
c.96533G>C
|
p.Arg32178Thr
|
- | 3.0 |
|
B | |
| 14529 | chr2 | 178543506 | G | C |
c.96467C>G
|
p.Thr32156Ser
|
- | 3.0 |
|
B | |
| 28267 | chr2 | 178543611 | G | T |
c.96362C>A
|
p.Ser32121Tyr
|
- | 3.0 |
|
B | |
| 12633 | chr2 | 178544025 | C | T |
c.96119G>A
|
p.Gly32040Glu
|
- | 3.0 |
|
B | |
| 30574 | chr2 | 178544246 | C | T |
c.95983G>A
|
p.Glu31995Lys
|
2.5 |
|
B | ||
| 25661 | chr2 | 178544396 | C | G |
c.95833G>C
|
p.Val31945Leu
|
- | 3.0 |
|
B | |
| 34327 | chr2 | 178545487 | C | T |
c.95623G>A
|
p.Glu31875Lys
|
3.0 |
|
B | ||
| 27927 | chr2 | 178546003 | C | T |
c.95233G>A
|
p.Val31745Met
|
3.0 |
|
B | ||
| 30444 | chr2 | 178546236 | C | T |
c.95095G>A
|
p.Val31699Met
|
3.0 |
|
B | ||
| 24604 | chr2 | 178546368 | C | T |
c.94963G>A
|
p.Glu31655Lys
|
- | 3.0 |
|
B | |
| 30076 | chr2 | 178546600 | C | T |
c.94828G>A
|
p.Ala31610Thr
|
3.0 |
|
B | ||
| 35077 | chr2 | 178546913 | G | A |
c.94523-8C>T
|
-
|
- | 3.0 |
|
B |