Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28350 | chr1 | 179229353 | C | T |
c.45G>A
|
p.Gln15=
|
- | 3.0 |
|
B | |
| 28449 | chr1 | 179534911 | G | C |
c.2980G>C
|
p.Glu994Gln
|
3.0 |
|
B | ||
| 4810 | chr1 | 180196547 | TGATGA | T |
c.1755_1759del
|
p.Met585IlefsTer13
|
- | 3.0 |
|
B | |
| 15257 | chr1 | 180873800 | C | T |
c.1669-3C>T
|
-
|
- | 3.0 |
|
B | |
| 4042 | chr1 | 182816744 | C | T |
c.395C>T
|
p.Ala132Val
|
- | 3.0 |
|
B | |
| 15924 | chr1 | 185087626 | C | G |
c.73C>G
|
p.Gln25Glu
|
- | 3.0 |
|
B | |
| 17196 | chr1 | 185098059 | C | T |
c.465-13C>T
|
-
|
- | 3.0 |
|
B | |
| 34875 | chr1 | 185098218 | G | A |
c.611G>A
|
p.Gly204Glu
|
- | 3.0 |
|
B | |
| 30352 | chr1 | 185099805 | C | T |
c.752C>T
|
p.Ser251Phe
|
3.0 |
|
B | ||
| 16000 | chr1 | 186317477 | C | G |
c.6940+5G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 34743 | chr1 | 186317503 | G | A |
c.6919C>T
-
|
p.Pro2307Ser
-
|
3.0 |
|
B | ||
| 18872 | chr1 | 186318847 | A | G |
c.6569-19T>C
-
|
-
-
|
3.0 |
|
B | ||
| 21167 | chr1 | 186322553 | G | A |
c.6331C>T
|
p.Arg2111Cys
|
3.0 |
|
B | ||
| 31745 | chr1 | 186322605 | G | C |
c.6298-19C>G
|
-
|
- | 3.0 |
|
B | |
| 33684 | chr1 | 186323757 | G | A |
c.6226C>T
|
p.Arg2076Cys
|
3.0 |
|
B | ||
| 34836 | chr1 | 186326108 | G | C |
c.6017C>G
|
p.Ala2006Gly
|
- | 3.0 |
|
B | |
| 26106 | chr1 | 186335063 | C | G |
c.4973+5G>C
|
-
|
- | 3.0 |
|
B | |
| 27663 | chr1 | 186335452 | A | C |
c.4797T>G
|
p.Ile1599Met
|
- | 3.0 |
|
B | |
| 16415 | chr1 | 186338080 | G | A |
c.4315C>T
|
p.Arg1439Cys
|
- | 3.0 |
|
B | |
| 26502 | chr1 | 186343901 | T | C |
c.3602+5A>G
|
-
|
- | 3.0 |
|
B |