Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16975 | chr11 | 108248938 | TAATGAAGATACCAGATCCTTGG | T |
c.1073_1094del
|
p.Asn358ArgfsTer25
|
- | 4.0 |
|
B | |
| 432 | chr11 | 108248951 | A | T |
c.1084A>T
|
p.Arg362Ter
|
- | 4.33 |
|
A | |
| 5518 | chr11 | 108248953 | A | AT |
c.1087dup
|
p.Ser363PhefsTer16
|
- | 4.0 |
|
B | |
| 2273 | chr11 | 108250862 | A | C |
c.1397A>C
|
p.Gln466Pro
|
- | 3.0 |
|
B | |
| 6888 | chr11 | 108250959 | G | T |
c.1494G>T
|
p.Glu498Asp
|
- | 3.0 |
|
B | |
| 599 | chr11 | 108251950 | A | G |
c.1721A>G
|
p.Glu574Gly
|
- | 3.0 |
|
B | |
| 945 | chr11 | 108251964 | T | C |
c.1735T>C
|
p.Trp579Arg
|
3.0 |
|
B | ||
| 28031 | chr11 | 108252848 | C | A |
c.1834C>A
|
p.Leu612Ile
|
3.0 |
|
B | ||
| 35336 | chr11 | 108252922 | C | A |
c.1898+10C>A
|
-
|
- | 2.0 |
|
B | |
| 27712 | chr11 | 108253863 | G | C |
c.1948G>C
|
p.Glu650Gln
|
- | 3.0 |
|
B | |
| 21006 | chr11 | 108254059 | G | A |
c.2124+20G>A
|
-
|
2.5 |
|
B | ||
| 31371 | chr11 | 108256276 | A | G |
c.2186A>G
|
p.Tyr729Cys
|
3.0 |
|
B | ||
| 5455 | chr11 | 108257574 | C | G |
c.2344C>G
|
p.Leu782Val
|
- | 3.0 |
|
B | |
| 30785 | chr11 | 108259047 | AT | A |
c.2439del
|
p.Asn813LysfsTer10
|
- | 4.0 |
|
B | |
| 433 | chr11 | 108267258 | C | T |
c.2554C>T
|
p.Gln852Ter
|
4.67 |
|
A | ||
| 8351 | chr11 | 108267349 | A | G |
c.2638+7A>G
|
-
|
2.0 |
|
B | ||
| 11903 | chr11 | 108268391 | G | C |
c.2639-19G>C
|
-
|
- | 2.5 |
|
B | |
| 34290 | chr11 | 108271059 | C | G |
c.2839-5C>G
|
-
|
- | 2.5 |
|
B | |
| 16206 | chr11 | 108271269 | T | A |
c.2940T>A
|
p.Tyr980Ter
|
4.5 |
|
B | ||
| 31435 | chr11 | 108272853 | G | A |
c.3284+1G>A
|
p.?
|
5.0 |
|
B |