Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5897 | chr13 | 32357930 | G | A |
c.7805+1G>A
|
p.?
|
4.0 |
|
B | ||
| 2441 | chr13 | 32357931 | T | A |
c.7805+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 21079 | chr13 | 32362693 | G | A |
c.7976G>A
|
p.Arg2659Lys
|
3.5 |
|
B | ||
| 23376 | chr13 | 32362694 | G | A |
c.7976+1G>A
|
p.?
|
4.5 |
|
B | ||
| 33561 | chr13 | 32363250 | C | CA |
c.8053dup
|
p.Thr2685AsnfsTer8
|
4.0 |
|
B | ||
| 19925 | chr13 | 32363342 | CA | C |
c.8145del
|
p.Val2716TrpfsTer17
|
4.5 |
|
B | ||
| 29799 | chr13 | 32370401 | G | A |
c.8332-1G>A
|
p.?
|
4.5 |
|
B | ||
| 8573 | chr13 | 32370468 | C | T |
c.8398C>T
|
p.Pro2800Ser
|
2.5 |
|
B | ||
| 5898 | chr13 | 32370558 | G | A |
c.8487+1G>A
|
p.?
|
4.0 |
|
B | ||
| 26656 | chr13 | 32370958 | G | C |
c.8490G>C
|
p.Trp2830Cys
|
- | 3.0 |
|
B | |
| 26657 | chr13 | 32371053 | T | A |
c.8585T>A
|
p.Leu2862Gln
|
2.0 |
|
B | ||
| 1885 | chr13 | 32376700 | G | A |
c.8663G>A
|
p.Arg2888His
|
2.5 |
|
B | ||
| 9404 | chr13 | 32376768 | GC | G |
c.8732del
|
p.Ala2911GlufsTer16
|
- | 4.0 |
|
B | |
| 4420 | chr13 | 32376794 | G | A |
c.8754+3G>A
|
-
|
3.0 |
|
B | ||
| 14248 | chr13 | 32376798 | G | C |
c.8754+7G>C
|
-
|
2.0 |
|
B | ||
| 29219 | chr13 | 32379297 | A | G |
c.8755-20A>G
|
-
|
2.0 |
|
B | ||
| 10243 | chr13 | 32379318 | GT | G |
c.8758del
|
p.Tyr2920IlefsTer7
|
- | 4.0 |
|
B | |
| 34181 | chr13 | 32379399 | T | TG |
c.8839dup
|
p.Glu2947GlyfsTer3
|
- | 4.0 |
|
B | |
| 34740 | chr13 | 32379843 | C | T |
c.9047C>T
|
p.Ser3016Phe
|
3.0 |
|
B | ||
| 11057 | chr13 | 32379885 | C | CA |
c.9097dup
|
p.Thr3033AsnfsTer11
|
4.5 |
|
B |