Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24004 | chr15 | 58640906 | T | C |
c.883A>G
|
p.Ile295Val
|
3.0 |
|
B | ||
| 7662 | chr15 | 58643966 | C | T |
c.748G>A
|
p.Val250Ile
|
- | 3.0 |
|
B | |
| 23599 | chr15 | 58643985 | T | C |
c.736-7A>G
|
-
|
- | 3.0 |
|
B | |
| 8829 | chr15 | 58717603 | T | TA |
c.179dup
|
p.Leu60PhefsTer25
|
- | 3.0 |
|
B | |
| 34138 | chr15 | 58717672 | G | GT |
c.110dup
|
p.Tyr37Ter
|
- | 3.0 |
|
B | |
| 24284 | chr15 | 58717731 | T | TA |
c.56-5dup
|
-
|
3.0 |
|
B | ||
| 19688 | chr15 | 58717731 | TA | T |
c.56-5del
|
-
|
3.0 |
|
B | ||
| 16641 | chr15 | 58749003 | G | A |
c.55+477C>T
|
-
|
3.0 |
|
B | ||
| 4759 | chr15 | 59171945 | A | G |
c.2432T>C
|
p.Val811Ala
|
- | 3.0 |
|
B | |
| 9594 | chr15 | 63043838 | G | A |
c.115-189G>A
|
-
|
- | 3.0 |
|
B | |
| 27361 | chr15 | 63044033 | G | A |
c.121G>A
|
p.Asp41Asn
|
- | 3.0 |
|
B | |
| 27417 | chr15 | 63044065 | G | T |
c.153G>T
|
p.Lys51Asn
|
- | 3.0 |
|
B | |
| 22376 | chr15 | 63044250 | C | T |
c.240+98C>T
|
-
|
- | 3.0 |
|
B | |
| 17965 | chr15 | 63057058 | G | A |
c.314G>A
|
p.Arg105His
|
3.0 |
|
B | ||
| 21345 | chr15 | 63057089 | A | T |
c.345A>T
|
p.Glu115Asp
|
- | 3.0 |
|
B | |
| 9583 | chr15 | 63059603 | GA | G |
c.421del
|
p.Met141TrpfsTer8
|
- | 3.0 |
|
B | |
| 30756 | chr15 | 63062577 | C | T |
c.704C>T
|
p.Ala235Val
|
- | 3.0 |
|
B | |
| 13814 | chr15 | 63062585 | C | T |
c.712C>T
|
p.Arg238Trp
|
3.5 |
|
B | ||
| 13742 | chr15 | 63062787 | C | G |
c.772+142C>G
|
-
|
3.0 |
|
B | ||
| 27180 | chr15 | 63064129 | G | A |
c.838G>A
|
p.Asp280Asn
|
3.0 |
|
B |