Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2458 | chr13 | 28345458 | C | T |
c.2342G>A
|
p.Arg781Gln
|
3.0 |
|
B | ||
| 16242 | chr13 | 28345494 | G | T |
c.2306C>A
|
p.Ala769Glu
|
3.0 |
|
B | ||
| 11199 | chr13 | 28345539 | T | A |
c.2261A>T
|
p.Lys754Met
|
- | 3.0 |
|
B | |
| 18328 | chr13 | 28345548 | G | A |
c.2252C>T
|
p.Thr751Ile
|
- | 3.0 |
|
B | |
| 14348 | chr13 | 28357667 | C | T |
c.2135G>A
|
p.Gly712Glu
|
3.0 |
|
B | ||
| 14825 | chr13 | 28357685 | C | T |
c.2117G>A
|
p.Gly706Glu
|
- | 3.0 |
|
B | |
| 30392 | chr13 | 28368599 | CGATGAT | C |
c.2117-10920_2117-10915del
|
-
|
- | 3.0 |
|
B | |
| 18624 | chr13 | 28368657 | T | C |
c.2117-10972A>G
|
-
|
3.0 |
|
B | ||
| 16280 | chr13 | 28384933 | G | T |
c.2068C>A
|
p.Pro690Thr
|
- | 3.0 |
|
B | |
| 14217 | chr13 | 28384960 | C | T |
c.2041G>A
|
p.Asp681Asn
|
- | 3.0 |
|
B | |
| 29771 | chr13 | 28389612 | G | A |
c.1969+184C>T
|
-
|
- | 3.0 |
|
B | |
| 13223 | chr13 | 28389747 | T | C |
c.1969+49A>G
|
-
|
- | 3.0 |
|
B | |
| 35540 | chr13 | 28389795 | C | A |
c.1969+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 7966 | chr13 | 28389889 | C | T |
c.1876G>A
|
p.Val626Ile
|
3.0 |
|
B | ||
| 23876 | chr13 | 28389918 | G | T |
c.1847C>A
|
p.Ser616Tyr
|
- | 3.0 |
|
B | |
| 20460 | chr13 | 28389978 | T | C |
c.1787A>G
|
p.Asn596Ser
|
- | 3.0 |
|
B | |
| 28075 | chr13 | 28390029 | A | T |
c.1736T>A
|
p.Val579Asp
|
- | 3.0 |
|
B | |
| 10659 | chr13 | 28390057 | C | T |
c.1708G>A
|
p.Gly570Arg
|
3.0 |
|
B | ||
| 24521 | chr13 | 28390072 | T | C |
c.1693A>G
|
p.Lys565Glu
|
3.0 |
|
B | ||
| 20387 | chr13 | 28396996 | C | T |
c.1624G>A
|
p.Gly542Arg
|
- | 3.0 |
|
B |