Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29567 | chr15 | 34791224 | C | A |
c.880G>T
|
p.Asp294Tyr
|
- | 3.0 |
|
B | |
| 26230 | chr15 | 34791298 | G | T |
c.809-3C>A
|
-
|
- | 3.0 |
|
B | |
| 14784 | chr15 | 34792235 | G | A |
c.663C>T
|
p.Val221=
|
2.0 |
|
B | ||
| 18159 | chr15 | 34792273 | C | T |
c.625G>A
|
p.Glu209Lys
|
3.0 |
|
B | ||
| 8280 | chr15 | 34792274 | A | C |
c.624T>G
|
p.Arg208=
|
- | 3.0 |
|
B | |
| 27022 | chr15 | 34792276 | G | A |
c.622C>T
|
p.Arg208Cys
|
3.0 |
|
B | ||
| 16612 | chr15 | 34792537 | G | A |
c.487C>T
|
p.His163Tyr
|
- | 3.0 |
|
B | |
| 14550 | chr15 | 34793410 | G | A |
c.289C>T
|
p.Arg97Cys
|
3.0 |
|
B | ||
| 27628 | chr15 | 34793479 | C | T |
c.220G>A
|
p.Glu74Lys
|
3.0 |
|
B | ||
| 23877 | chr15 | 34793487 | T | A |
c.212A>T
|
p.Tyr71Phe
|
- | 3.0 |
|
B | |
| 19745 | chr15 | 37099551 | CT | C |
c.-86del
|
-
|
2.5 |
|
B | ||
| 19893 | chr15 | 37099551 | CTT | C |
c.-87_-86del
|
-
|
3.0 |
|
B | ||
| 14962 | chr15 | 38299392 | C | T |
c.52C>T
|
p.Arg18Ter
|
3.5 |
|
B | ||
| 14963 | chr15 | 38322231 | C | T |
c.208-10C>T
|
-
|
- | 3.0 |
|
B | |
| 29067 | chr15 | 38322321 | C | CA |
c.290dup
|
p.Lys98GlufsTer11
|
- | 4.0 |
|
B | |
| 16243 | chr15 | 38322353 | C | T |
c.320C>T
|
p.Ala107Val
|
- | 3.0 |
|
B | |
| 29802 | chr15 | 38322355 | G | A |
c.322G>A
|
p.Asp108Asn
|
- | 3.0 |
|
B | |
| 34486 | chr15 | 38322394 | G | A |
c.361G>A
|
p.Glu121Lys
|
- | 3.0 |
|
B | |
| 23410 | chr15 | 38339719 | G | A |
c.424-18G>A
|
-
|
1.0 |
|
B | ||
| 14964 | chr15 | 38339724 | T | G |
c.424-13T>G
|
-
|
- | 3.0 |
|
B |