Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4429 | chr11 | 71439031 | G | A |
c.679C>T
|
p.Pro227Ser
|
- | 3.0 |
|
B | |
| 17675 | chr11 | 71441439 | C | A |
c.414G>T
|
p.Gly138=
|
- | 3.0 |
|
B | |
| 18802 | chr11 | 71441453 | G | A |
c.413-13C>T
|
-
|
- | 3.0 |
|
B | |
| 12743 | chr11 | 71441459 | G | A |
c.413-19C>T
|
-
|
- | 2.5 |
|
B | |
| 35245 | chr11 | 71442367 | G | A |
c.322-14C>T
|
-
|
- | 3.0 |
|
B | |
| 34615 | chr11 | 71443955 | A | T |
c.321+38T>A
|
-
|
- | 3.0 |
|
B | |
| 18137 | chr11 | 71443984 | G | A |
c.321+9C>T
|
-
|
2.0 |
|
B | ||
| 31285 | chr11 | 71444100 | C | T |
c.214G>A
|
p.Val72Met
|
- | 3.0 |
|
B | |
| 33529 | chr11 | 71444193 | C | T |
c.121G>A
|
p.Ala41Thr
|
- | 3.0 |
|
B | |
| 22906 | chr11 | 71444215 | C | T |
c.99G>A
|
p.Trp33Ter
|
- | 3.0 |
|
B | |
| 27323 | chr11 | 71444876 | T | G |
c.77A>C
|
p.Gln26Pro
|
3.0 |
|
B | ||
| 7937 | chr11 | 71444903 | C | T |
c.50G>A
|
p.Gly17Asp
|
- | 3.0 |
|
B | |
| 30628 | chr11 | 71444939 | G | A |
c.14C>T
|
p.Ser5Leu
|
3.0 |
|
B | ||
| 28215 | chr11 | 72004284 | C | G |
c.6064G>C
-
|
p.Gly2022Arg
-
|
3.0 |
|
B | ||
| 14156 | chr11 | 72004313 | C | T |
c.6035G>A
-
|
p.Arg2012His
-
|
3.0 |
|
B | ||
| 13740 | chr11 | 72004678 | C | A |
c.5968G>T
-
|
p.Val1990Phe
-
|
- | 3.0 |
|
B | |
| 4014 | chr11 | 72004698 | G | A |
c.5948C>T
-
|
p.Thr1983Ile
-
|
- | 3.0 |
|
B | |
| 28216 | chr11 | 72004724 | C | G |
c.5922G>C
-
|
p.Gln1974His
-
|
- | 3.0 |
|
B | |
| 19654 | chr11 | 72005266 | TG | T |
c.5795del
-
|
p.Pro1932HisfsTer3
-
|
- | 3.0 |
|
B | |
| 33008 | chr11 | 72005307 | G | A |
c.5755C>T
-
|
p.Arg1919Cys
-
|
3.0 |
|
B |