Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27341 | chr1 | 45332590 | G | C |
c.590C>G
-
|
p.Ser197Cys
-
|
3.0 |
|
B | ||
| 32000 | chr1 | 45332614 | C | A |
c.566G>T
-
|
p.Arg189Leu
-
|
- | 3.0 |
|
B | |
| 27387 | chr1 | 45332667 | GC | G |
c.512del
-
|
p.Gly171AlafsTer41
-
|
- | 4.0 |
|
B | |
| 25074 | chr1 | 45332842 | T | A |
c.421-8A>T
-
|
-
-
|
3.0 |
|
B | ||
| 10759 | chr1 | 45332934 | G | C |
c.404C>G
-
|
p.Ala135Gly
-
|
- | 3.0 |
|
B | |
| 1911 | chr1 | 45333281 | T | G |
c.304+4A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 96 | chr1 | 45333472 | G | A |
c.205C>T
-
|
p.Arg69Ter
-
|
5.0 |
|
B | ||
| 8562 | chr1 | 45333480 | G | A |
c.197C>T
-
|
p.Thr66Ile
-
|
3.0 |
|
B | ||
| 2406 | chr1 | 45508267 | G | A |
c.332G>A
-
|
p.Arg111Gln
-
|
2.0 |
|
B | ||
| 25246 | chr1 | 46043686 | G | T |
c.1373C>A
|
p.Ser458Ter
|
- | 4.0 |
|
B | |
| 32963 | chr1 | 46043869 | G | A |
c.1190C>T
|
p.Ala397Val
|
- | 3.0 |
|
B | |
| 29680 | chr1 | 46045980 | T | A |
c.1125A>T
|
p.Lys375Asn
|
- | 3.0 |
|
B | |
| 10860 | chr1 | 46046076 | G | C |
c.1029C>G
|
p.Ile343Met
|
- | 3.0 |
|
B | |
| 16529 | chr1 | 46046088 | C | A |
c.1017G>T
|
p.Glu339Asp
|
3.0 |
|
B | ||
| 3372 | chr1 | 46046617 | T | C |
c.950A>G
|
p.Asn317Ser
|
2.5 |
|
B | ||
| 10861 | chr1 | 46046635 | G | A |
c.942-10C>T
|
-
|
- | 3.0 |
|
B | |
| 9812 | chr1 | 46055804 | T | A |
c.932A>T
|
p.Gln311Leu
|
2.5 |
|
B | ||
| 18657 | chr1 | 46055887 | A | T |
c.849T>A
|
p.Asn283Lys
|
1.0 |
|
B | ||
| 1756 | chr1 | 46055955 | C | T |
c.781G>A
|
p.Asp261Asn
|
3.0 |
|
B | ||
| 22442 | chr1 | 46062006 | C | G |
c.687G>C
|
p.Gln229His
|
- | 3.0 |
|
B |