Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12698 | chr1 | 71698059 | C | T |
c.616G>A
|
p.Glu206Lys
|
- | 3.0 |
|
B | |
| 15558 | chr1 | 71698061 | G | A |
c.614C>T
|
p.Ala205Val
|
3.0 |
|
B | ||
| 13827 | chr1 | 71698085 | T | A |
c.590A>T
|
p.Gln197Leu
|
- | 3.0 |
|
B | |
| 15335 | chr1 | 71698100 | C | T |
c.575G>A
|
p.Gly192Glu
|
- | 3.0 |
|
B | |
| 18434 | chr1 | 71776174 | G | C |
c.533C>G
|
p.Ser178Ter
|
- | 3.0 |
|
B | |
| 29402 | chr1 | 71776285 | A | G |
c.422T>C
|
p.Ile141Thr
|
- | 3.0 |
|
B | |
| 27057 | chr1 | 71776305 | G | A |
c.410-8C>T
|
-
|
- | 3.0 |
|
B | |
| 13320 | chr1 | 71935112 | G | A |
c.376C>T
|
p.Pro126Ser
|
- | 3.0 |
|
B | |
| 30674 | chr1 | 72282338 | C | A |
c.157G>T
|
p.Gly53Trp
|
3.0 |
|
B | ||
| 12857 | chr1 | 72282385 | C | T |
c.110G>A
|
p.Ser37Asn
|
- | 3.0 |
|
B | |
| 35149 | chr1 | 72282389 | G | T |
c.106C>A
|
p.Gln36Lys
|
- | 3.0 |
|
B | |
| 1992 | chr1 | 74109528 | GT | G |
c.732del
|
p.Lys244AsnfsTer17
|
3.0 |
|
B | ||
| 4621 | chr1 | 74641328 | C | T |
c.444+3G>A
|
-
|
- | 3.0 |
|
B | |
| 5405 | chr1 | 77949222 | CTA | C |
c.1857_1858del
|
p.Tyr619Ter
|
- | 3.5 |
|
B | |
| 8100 | chr1 | 77955268 | G | C |
c.1767C>G
|
p.Tyr589Ter
|
- | 4.0 |
|
B | |
| 9153 | chr1 | 77956575 | GT | G |
c.1701del
|
p.Gln568LysfsTer97
|
- | 3.5 |
|
B | |
| 10884 | chr1 | 77956646 | TAGTG | T |
c.1627_1630del
|
p.His543IlefsTer121
|
- | 4.0 |
|
B | |
| 9723 | chr1 | 77956653 | C | T |
c.1624G>A
|
p.Ala542Thr
|
3.0 |
|
B | ||
| 19362 | chr1 | 77960456 | G | A |
c.1384C>T
|
p.Pro462Ser
|
- | 3.0 |
|
B | |
| 19503 | chr1 | 77960499 | C | CA |
c.1345-5dup
|
-
|
3.0 |
|
B |