Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32237 | chr15 | 48465825 | C | G |
c.4781G>C
|
p.Gly1594Ala
|
- | 3.0 |
|
B | |
| 32206 | chr15 | 48468061 | C | T |
c.4624G>A
|
p.Gly1542Arg
|
- | 3.0 |
|
B | |
| 30716 | chr15 | 48468117 | C | G |
c.4583-15G>C
|
-
|
3.0 |
|
B | ||
| 23271 | chr15 | 48470654 | C | A |
c.4439G>T
|
p.Arg1480Ile
|
- | 3.0 |
|
B | |
| 33910 | chr15 | 48472581 | C | T |
c.4306G>A
|
p.Val1436Met
|
2.0 |
|
B | ||
| 35393 | chr15 | 48472665 | A | G |
c.4222T>C
|
p.Cys1408Arg
|
3.5 |
|
B | ||
| 34630 | chr15 | 48481774 | T | A |
c.3845A>T
|
p.Asn1282Ile
|
- | 3.0 |
|
B | |
| 21717 | chr15 | 48487300 | C | G |
c.3463+12G>C
|
-
|
- | 3.0 |
|
B | |
| 33756 | chr15 | 48487306 | C | T |
c.3463+6G>A
|
-
|
- | 3.0 |
|
B | |
| 33775 | chr15 | 48488392 | C | T |
c.3184G>A
|
p.Asp1062Asn
|
3.0 |
|
B | ||
| 15728 | chr15 | 48488404 | C | T |
c.3172G>A
|
p.Gly1058Ser
|
3.0 |
|
B | ||
| 33291 | chr15 | 48489929 | G | A |
c.3004C>T
|
p.Pro1002Ser
|
- | 3.0 |
|
B | |
| 33733 | chr15 | 48490040 | C | T |
c.2893G>A
|
p.Glu965Lys
|
3.0 |
|
B | ||
| 19335 | chr15 | 48495121 | A | T |
c.2677+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 23964 | chr15 | 48495153 | ACGCAGCAC | A |
c.2639_2646del
|
p.Gly880ValfsTer11
|
- | 3.0 |
|
B | |
| 25232 | chr15 | 48495183 | A | G |
c.2617T>C
|
p.Ser873Pro
|
- | 3.0 |
|
B | |
| 13776 | chr15 | 48495214 | A | C |
c.2586T>G
|
p.Cys862Trp
|
- | 3.0 |
|
B | |
| 33521 | chr15 | 48495595 | C | A |
c.2420-7G>T
|
-
|
3.0 |
|
B | ||
| 23079 | chr15 | 48497332 | G | A |
c.2227C>T
|
p.Arg743Cys
|
3.0 |
|
B | ||
| 33276 | chr15 | 48513564 | G | A |
c.1573C>T
|
p.Arg525Trp
|
3.0 |
|
B |