Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 470 | chr16 | 68828254 | C | T |
c.2245C>T
|
p.Arg749Trp
|
3.0 |
|
B | ||
| 6058 | chr16 | 68828266 | T | A |
c.2257T>A
|
p.Tyr753Asn
|
- | 3.0 |
|
B | |
| 32048 | chr16 | 68828291 | G | T |
c.2282G>T
|
p.Gly761Val
|
3.0 |
|
B | ||
| 22658 | chr16 | 68828304 | G | A |
c.2295G>A
|
p.Gln765=
|
3.5 |
|
B | ||
| 1341 | chr16 | 68828305 | G | A |
c.2295+1G>A
|
p.?
|
- | 5.0 |
|
B | |
| 18918 | chr16 | 68829639 | CTTTTTTCTCCAAAGGACTTTGACTTGAGCCAGCTGCACAG | C |
c.2296-14_2321del
|
p.?
|
- | 3.5 |
|
B | |
| 28176 | chr16 | 68829651 | A | G |
c.2296-3A>G
|
-
|
3.0 |
|
B | ||
| 9508 | chr16 | 68829697 | C | T |
c.2339C>T
|
p.Pro780Leu
|
3.0 |
|
B | ||
| 30036 | chr16 | 68829708 | C | T |
c.2350C>T
|
p.Arg784Cys
|
3.0 |
|
B | ||
| 17592 | chr16 | 68829742 | C | T |
c.2384C>T
|
p.Pro795Leu
|
3.0 |
|
B | ||
| 30017 | chr16 | 68829760 | C | T |
c.2402C>T
|
p.Pro801Leu
|
3.0 |
|
B | ||
| 23366 | chr16 | 68829810 | C | T |
c.2439+13C>T
|
-
|
2.0 |
|
B | ||
| 34077 | chr16 | 68833331 | T | A |
c.2481T>A
|
p.Tyr827Ter
|
- | 4.0 |
|
B | |
| 16822 | chr16 | 69707111 | C | T |
-
-
|
-
-
|
3.0 |
|
B | ||
| 6168 | chr16 | 69707209 | T | C |
-
-
|
-
-
|
3.0 |
|
B | ||
| 6186 | chr16 | 69707210 | G | A |
-
-
|
-
-
|
3.0 |
|
B | ||
| 15304 | chr16 | 69713049 | ATTCATGTCCCCGTGGATCCC | A |
c.478_497del
|
p.Gly160CysfsTer26
|
- | 3.0 |
|
B | |
| 9840 | chr16 | 69715029 | C | A |
c.352G>T
|
p.Glu118Ter
|
- | 3.0 |
|
B | |
| 28967 | chr16 | 69715071 | G | T |
c.310C>A
|
p.Leu104Met
|
- | 3.0 |
|
B | |
| 24147 | chr16 | 69718108 | G | A |
c.303+15C>T
|
-
|
3.0 |
|
B |