Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32046 | chr15 | 43474767 | C | G |
c.1086G>C
|
p.Thr362=
|
- | 3.0 |
|
B | |
| 32602 | chr15 | 43477593 | C | T |
c.955G>A
|
p.Val319Ile
|
- | 3.0 |
|
B | |
| 22466 | chr15 | 43477719 | C | A |
c.829G>T
|
p.Ala277Ser
|
- | 3.0 |
|
B | |
| 34376 | chr15 | 43479403 | G | A |
c.782C>T
|
p.Pro261Leu
|
- | 3.0 |
|
B | |
| 17504 | chr15 | 43479871 | C | T |
c.646G>A
|
p.Asp216Asn
|
- | 3.0 |
|
B | |
| 33229 | chr15 | 43479979 | G | T |
c.538C>A
|
p.Leu180Ile
|
- | 3.0 |
|
B | |
| 11056 | chr15 | 43491671 | G | C |
c.369C>G
|
p.Ser123Arg
|
3.0 |
|
B | ||
| 18917 | chr15 | 43491672 | C | T |
c.368G>A
|
p.Ser123Asn
|
3.0 |
|
B | ||
| 15453 | chr15 | 43491691 | G | GTAAC |
c.345_348dup
|
p.Pro117ValfsTer51
|
- | 4.0 |
|
B | |
| 17032 | chr15 | 43491772 | T | C |
c.287-19A>G
|
-
|
- | 3.0 |
|
B | |
| 25131 | chr15 | 43492046 | C | T |
c.242G>A
|
p.Gly81Asp
|
- | 3.0 |
|
B | |
| 26124 | chr15 | 43492421 | G | A |
c.55C>T
|
p.Gln19Ter
|
4.0 |
|
B | ||
| 31082 | chr15 | 43493270 | A | G |
-
|
-
|
- | 3.0 |
|
B | |
| 24978 | chr15 | 44711542 | C | T |
-
c.-5C>T
|
-
-
|
3.0 |
|
B | ||
| 5730 | chr15 | 44711547 | A | G |
-
c.1A>G
|
-
p.Met1?
|
4.5 |
|
B | ||
| 33831 | chr15 | 44711548 | T | C |
-
c.2T>C
|
-
p.Met1?
|
4.5 |
|
B | ||
| 1152 | chr15 | 44711549 | G | A |
-
c.3G>A
|
-
p.Met1?
|
4.0 |
|
B | ||
| 4960 | chr15 | 44711581 | T | C |
-
c.35T>C
|
-
p.Leu12Pro
|
- | 3.0 |
|
B | |
| 24502 | chr15 | 44711582 | A | ACC |
-
c.37_38insCC
|
-
p.Leu13ProfsTer32
|
- | 4.0 |
|
B | |
| 6129 | chr15 | 44711582 | ACT | A |
-
c.43_44del
|
-
p.Leu15PhefsTer41
|
- | 4.0 |
|
B |