Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21214 | chr2 | 233672254 | C | T |
c.855+34877C>T
c.320C>T
c.855+53692C>T
|
-
p.Ser107Phe
-
|
3.0 |
|
B | ||
| 10801 | chr2 | 233672273 | C | A |
c.855+34896C>A
c.339C>A
c.855+53711C>A
|
-
p.Tyr113Ter
-
|
3.0 |
|
B | ||
| 23626 | chr2 | 233672356 | C | G |
c.855+34979C>G
c.422C>G
c.855+53794C>G
|
-
p.Ser141Cys
-
|
3.0 |
|
B | ||
| 16269 | chr2 | 233672376 | G | A |
c.855+34999G>A
c.442G>A
c.855+53814G>A
|
-
p.Asp148Asn
-
|
3.0 |
|
B | ||
| 14188 | chr2 | 233672803 | C | T |
c.855+35426C>T
c.855+14C>T
c.855+54241C>T
|
-
-
-
|
3.0 |
|
B | ||
| 33112 | chr2 | 233713187 | A | C |
c.196A>C
c.861+19322A>C
c.856-53847A>C
c.855+40398A>C
c.855+30395A>C
c.856-53847A>C
|
p.Asn66His
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 19402 | chr2 | 233713497 | C | T |
c.506C>T
c.861+19632C>T
c.856-53537C>T
c.855+40708C>T
c.855+30705C>T
c.856-53537C>T
|
p.Ala169Val
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 1020 | chr2 | 233713674 | C | A |
c.683C>A
c.861+19809C>A
c.856-53360C>A
c.855+40885C>A
c.855+30882C>A
c.856-53360C>A
|
p.Ser228Tyr
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 27397 | chr2 | 233713739 | A | T |
-
c.748A>T
c.861+19874A>T
c.856-53295A>T
c.855+40950A>T
c.855+30947A>T
c.856-53295A>T
|
-
p.Ser250Cys
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 29613 | chr2 | 233729136 | G | A |
c.867+9449G>A
c.867+15278G>A
c.10G>A
c.861+35271G>A
c.856-37898G>A
c.856-37898G>A
c.856-37898G>A
c.856-37898G>A
|
-
-
p.Gly4Arg
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 10964 | chr2 | 233729266 | T | C |
c.867+9579T>C
c.867+15408T>C
c.140T>C
c.861+35401T>C
c.856-37768T>C
c.856-37768T>C
c.856-37768T>C
c.856-37768T>C
|
-
-
p.Val47Ala
-
-
-
-
-
|
1.0 |
|
B | ||
| 5287 | chr2 | 233729280 | C | T |
c.867+9593C>T
c.867+15422C>T
c.154C>T
c.861+35415C>T
c.856-37754C>T
c.856-37754C>T
c.856-37754C>T
c.856-37754C>T
|
-
-
p.His52Tyr
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 23327 | chr2 | 233729430 | G | A |
c.867+9743G>A
c.867+15572G>A
c.304G>A
c.861+35565G>A
c.856-37604G>A
c.856-37604G>A
c.856-37604G>A
c.856-37604G>A
|
-
-
p.Glu102Lys
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 6886 | chr2 | 233729567 | T | G |
c.867+9880T>G
c.867+15709T>G
c.441T>G
c.861+35702T>G
c.856-37467T>G
c.856-37467T>G
c.856-37467T>G
c.856-37467T>G
|
-
-
p.Asp147Glu
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 13392 | chr2 | 233729636 | G | GT |
c.867+9957dup
c.867+15786dup
c.518dup
c.861+35779dup
c.856-37390dup
c.856-37390dup
c.856-37390dup
c.856-37390dup
|
-
-
p.Leu173PhefsTer7
-
-
-
-
-
|
2.5 |
|
B | ||
| 29522 | chr2 | 233729814 | C | T |
c.867+10127C>T
c.867+15956C>T
c.688C>T
c.861+35949C>T
c.856-37220C>T
c.856-37220C>T
c.856-37220C>T
c.856-37220C>T
|
-
-
p.Pro230Ser
-
-
-
-
-
|
3.0 |
|
B | ||
| 30383 | chr2 | 233729901 | G | C |
c.867+10214G>C
c.867+16043G>C
c.775G>C
c.861+36036G>C
c.856-37133G>C
c.856-37133G>C
c.856-37133G>C
c.856-37133G>C
|
-
-
p.Gly259Arg
-
-
-
-
-
|
3.0 |
|
B | ||
| 8285 | chr2 | 233729959 | G | T |
c.867+10272G>T
c.867+16101G>T
c.833G>T
c.861+36094G>T
c.856-37075G>T
c.856-37075G>T
c.856-37075G>T
c.856-37075G>T
|
-
-
p.Gly278Val
-
-
-
-
-
|
3.0 |
|
B | ||
| 2341 | chr2 | 233760399 | A | G |
c.868-6635A>G
c.868-6635A>G
c.868-6635A>G
c.112A>G
c.862-6635A>G
c.856-6635A>G
c.856-6635A>G
c.856-6635A>G
c.856-6635A>G
|
-
-
-
p.Ser38Gly
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 16316 | chr2 | 233760555 | G | C |
c.868-6479G>C
c.868-6479G>C
c.868-6479G>C
c.268G>C
c.862-6479G>C
c.856-6479G>C
c.856-6479G>C
c.856-6479G>C
c.856-6479G>C
|
-
-
-
p.Glu90Gln
-
-
-
-
-
|
- | 3.0 |
|
B |