Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22061 | chr15 | 74043170 | T | C |
c.1861+31T>C
|
-
|
- | 3.0 |
|
B | |
| 8272 | chr15 | 74044204 | C | A |
c.1862-17C>A
|
-
|
- | 3.0 |
|
B | |
| 17372 | chr15 | 74044329 | T | G |
c.1970T>G
|
p.Val657Gly
|
- | 3.0 |
|
B | |
| 33115 | chr15 | 74044610 | C | A |
c.2251C>A
|
p.Arg751Ser
|
3.0 |
|
B | ||
| 8552 | chr15 | 74044734 | G | A |
c.2375G>A
|
p.Arg792Gln
|
3.0 |
|
B | ||
| 25892 | chr15 | 74044985 | G | A |
c.2626G>A
|
p.Glu876Lys
|
- | 3.0 |
|
B | |
| 23197 | chr15 | 74045008 | A | G |
c.2649A>G
|
p.Ter883TrpextTer19
|
3.0 |
|
B | ||
| 2852 | chr15 | 74330244 | T | C |
c.1346T>C
|
p.Leu449Pro
|
- | 3.0 |
|
B | |
| 2853 | chr15 | 74330247 | G | A |
c.1349G>A
|
p.Arg450Gln
|
3.0 |
|
B | ||
| 33822 | chr15 | 75368146 | C | T |
-
c.154G>A
|
-
p.Glu52Lys
|
- | 3.0 |
|
B | |
| 1743 | chr15 | 75372187 | C | T |
c.3614G>A
-
|
p.Arg1205His
-
|
3.0 |
|
B | ||
| 540 | chr15 | 75381608 | C | A |
c.3288+5G>T
|
-
|
- | 3.0 |
|
B | |
| 33447 | chr15 | 75384425 | C | T |
c.3034G>A
|
p.Val1012Met
|
3.0 |
|
B | ||
| 3150 | chr15 | 75389828 | G | A |
c.2852-7C>T
|
-
|
- | 3.0 |
|
B | |
| 25605 | chr15 | 75389841 | G | A |
c.2852-20C>T
|
-
|
3.0 |
|
B | ||
| 23316 | chr15 | 75392247 | TCTTTGAGA | T |
c.2838_2845del
|
p.Leu947ThrfsTer5
|
- | 3.0 |
|
B | |
| 30452 | chr15 | 75392465 | T | TA |
c.2627dup
|
p.Leu876PhefsTer6
|
- | 3.0 |
|
B | |
| 1191 | chr15 | 75392516 | GC | G |
c.2576del
|
p.Gly859AlafsTer18
|
- | 3.0 |
|
B | |
| 32207 | chr15 | 75392590 | C | A |
c.2503G>T
|
p.Glu835Ter
|
- | 3.0 |
|
B | |
| 541 | chr15 | 75392629 | C | G |
c.2464G>C
|
p.Asp822His
|
3.0 |
|
B |