Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20767 | chr17 | 65558350 | C | T |
c.271G>A
|
p.Gly91Ser
|
3.0 |
|
B | ||
| 14981 | chr17 | 65558419 | G | A |
c.202C>T
|
p.Arg68Trp
|
- | 3.0 |
|
B | |
| 9142 | chr17 | 65558473 | G | A |
c.148C>T
|
p.Pro50Ser
|
1.0 |
|
B | ||
| 28096 | chr17 | 65558604 | A | T |
c.17T>A
|
p.Leu6Ter
|
- | 4.0 |
|
B | |
| 5222 | chr17 | 66964909 | A | G |
c.-3A>G
|
-
|
3.0 |
|
B | ||
| 3555 | chr17 | 67826117 | CGAG | C |
c.405_407del
|
p.Glu138del
|
2.5 |
|
B | ||
| 8356 | chr17 | 68515379 | GT | G |
c.-6-8del
|
-
|
- | 3.0 |
|
B | |
| 4274 | chr17 | 68515449 | A | G |
c.50A>G
|
p.Glu17Gly
|
- | 3.0 |
|
B | |
| 10714 | chr17 | 68515463 | G | T |
c.64G>T
|
p.Val22Phe
|
3.0 |
|
B | ||
| 6839 | chr17 | 68515478 | A | AT |
c.81dup
|
p.Gln28SerfsTer17
|
- | 3.5 |
|
B | |
| 20912 | chr17 | 68515492 | CAA | C |
c.95_96del
|
p.Lys32ArgfsTer12
|
- | 3.5 |
|
B | |
| 30459 | chr17 | 68515500 | C | T |
c.101C>T
|
p.Ser34Phe
|
- | 3.0 |
|
B | |
| 7223 | chr17 | 68515553 | G | T |
c.154G>T
|
p.Glu52Ter
|
- | 4.0 |
|
B | |
| 24709 | chr17 | 68515573 | GAAGGTAAAAA | G |
c.175_177+7del
|
p.?
|
- | 3.5 |
|
B | |
| 11467 | chr17 | 68522748 | T | G |
c.178-8T>G
|
-
|
2.0 |
|
B | ||
| 5762 | chr17 | 68522755 | G | C |
c.178-1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 11004 | chr17 | 68523716 | C | CT |
c.349-5dup
|
-
|
2.0 |
|
B | ||
| 13933 | chr17 | 68523781 | TG | T |
c.406del
|
p.Val136CysfsTer29
|
- | 3.5 |
|
B | |
| 5307 | chr17 | 68524045 | C | T |
c.470C>T
|
p.Ser157Phe
|
3.0 |
|
B | ||
| 21014 | chr17 | 68524082 | G | A |
c.502+5G>A
|
-
|
- | 3.0 |
|
B |