Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25069 | chr13 | 46158521 | C | T |
c.358+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 8150 | chr13 | 46158629 | G | C |
c.251C>G
|
p.Thr84Arg
|
3.0 |
|
B | ||
| 15774 | chr13 | 46158651 | T | A |
c.229A>T
|
p.Ile77Phe
|
- | 3.0 |
|
B | |
| 7649 | chr13 | 46158858 | C | A |
c.196G>T
|
p.Asp66Tyr
|
- | 3.0 |
|
B | |
| 6711 | chr13 | 46158887 | T | C |
c.167A>G
|
p.Asn56Ser
|
- | 3.0 |
|
B | |
| 5135 | chr13 | 48303916 | C | T |
c.4C>T
|
p.Pro2Ser
|
3.0 |
|
B | ||
| 17349 | chr13 | 48303998 | C | T |
c.86C>T
|
p.Pro29Leu
|
3.0 |
|
B | ||
| 16061 | chr13 | 48304012 | G | T |
c.100G>T
|
p.Glu34Ter
|
- | 4.5 |
|
B | |
| 966 | chr13 | 48307284 | G | T |
c.142G>T
|
p.Glu48Ter
|
- | 4.0 |
|
B | |
| 28008 | chr13 | 48307302 | G | T |
c.160G>T
|
p.Glu54Ter
|
- | 4.5 |
|
B | |
| 30014 | chr13 | 48307376 | G | A |
c.234G>A
|
p.Trp78Ter
|
- | 4.5 |
|
B | |
| 6477 | chr13 | 48307399 | GAGTATTGGTA | G |
c.260_264+5del
|
p.?
|
- | 4.0 |
|
B | |
| 9455 | chr13 | 48307407 | G | GT |
c.264+2dup
|
-
|
- | 4.0 |
|
B | |
| 28009 | chr13 | 48319628 | G | A |
c.264+12222G>A
|
-
|
- | 3.0 |
|
B | |
| 17708 | chr13 | 48342611 | C | T |
c.277C>T
|
p.Gln93Ter
|
4.5 |
|
B | ||
| 7630 | chr13 | 48342637 | CTG | C |
c.305_306del
|
p.Cys102TyrfsTer7
|
4.5 |
|
B | ||
| 18937 | chr13 | 48342695 | C | T |
c.361C>T
|
p.Gln121Ter
|
- | 4.0 |
|
B | |
| 31703 | chr13 | 48342703 | CAT | C |
c.371_372del
|
p.Ile124ArgfsTer6
|
4.5 |
|
B | ||
| 5997 | chr13 | 48342715 | G | A |
c.380+1G>A
|
p.?
|
4.5 |
|
B | ||
| 2180 | chr13 | 48345076 | GTAGTGTCCATAAATTCTTT | G |
c.381-3_396del
|
p.?
|
- | 4.0 |
|
B |