Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27812 | chr11 | 3723262 | G | A |
c.2041C>T
|
p.Arg681Ter
|
- | 3.0 |
|
B | |
| 28146 | chr11 | 3723273 | C | T |
c.2030G>A
|
p.Arg677His
|
3.0 |
|
B | ||
| 31433 | chr11 | 3723357 | G | C |
c.1946C>G
|
p.Pro649Arg
|
3.0 |
|
B | ||
| 12185 | chr11 | 3725154 | C | T |
c.1796G>A
|
p.Arg599His
|
3.0 |
|
B | ||
| 19645 | chr11 | 3725187 | A | G |
c.1763T>C
|
p.Leu588Pro
|
- | 3.0 |
|
B | |
| 4951 | chr11 | 3725220 | C | T |
c.1731-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 24451 | chr11 | 3731428 | C | T |
c.1693G>A
|
p.Asp565Asn
|
3.0 |
|
B | ||
| 28536 | chr11 | 3731551 | G | A |
c.1570C>T
|
p.Gln524Ter
|
- | 3.0 |
|
B | |
| 22762 | chr11 | 3735172 | G | A |
c.1542+19C>T
|
-
|
3.0 |
|
B | ||
| 11830 | chr11 | 3735232 | G | A |
c.1501C>T
|
p.Leu501Phe
|
- | 3.0 |
|
B | |
| 19698 | chr11 | 3735237 | G | T |
c.1496C>A
|
p.Ser499Tyr
|
- | 3.0 |
|
B | |
| 19646 | chr11 | 3735329 | TA | T |
c.1409-6del
|
-
|
2.0 |
|
B | ||
| 3182 | chr11 | 3735330 | A | T |
c.1409-6T>A
|
-
|
3.0 |
|
B | ||
| 10097 | chr11 | 3744514 | G | A |
c.1403C>T
|
p.Pro468Leu
|
3.0 |
|
B | ||
| 13774 | chr11 | 3753402 | C | T |
c.1181G>A
|
p.Gly394Asp
|
- | 3.0 |
|
B | |
| 11711 | chr11 | 3760627 | C | G |
c.1087-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 21760 | chr11 | 3763058 | A | C |
c.949-19T>G
|
-
|
- | 3.0 |
|
B | |
| 4009 | chr11 | 3771922 | G | A |
c.610C>T
|
p.Arg204Cys
|
3.0 |
|
B | ||
| 10358 | chr11 | 3775962 | G | A |
c.415C>T
|
p.Pro139Ser
|
- | 3.0 |
|
B | |
| 10359 | chr11 | 3775967 | G | A |
c.410C>T
|
p.Ser137Phe
|
- | 3.0 |
|
B |