Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21628 | chr11 | 118506435 | C | A |
c.10543C>A
|
p.Pro3515Thr
|
- | 3.0 |
|
B | |
| 26718 | chr11 | 118506531 | C | T |
c.10639C>T
|
p.Gln3547Ter
|
- | 3.5 |
|
B | |
| 22911 | chr11 | 118506634 | C | T |
c.10742C>T
|
p.Thr3581Ile
|
- | 3.0 |
|
B | |
| 35658 | chr11 | 118519715 | C | T |
c.11244C>T
|
p.Phe3748=
|
- | 3.0 |
|
B | |
| 33714 | chr11 | 118521304 | C | T |
c.11530C>T
|
p.Arg3844Trp
|
3.0 |
|
B | ||
| 15051 | chr11 | 118521321 | G | C |
c.11547G>C
|
p.Lys3849Asn
|
- | 3.0 |
|
B | |
| 20814 | chr11 | 118521918 | C | T |
c.11665C>T
|
p.Arg3889Ter
|
- | 4.0 |
|
B | |
| 3251 | chr11 | 118522173 | A | G |
c.*1A>G
|
-
|
- | 3.0 |
|
B | |
| 34862 | chr11 | 118971944 | C | G |
c.13C>G
|
p.Leu5Val
|
- | 3.0 |
|
B | |
| 17139 | chr11 | 118979560 | G | A |
c.503G>A
|
p.Gly168Glu
|
3.0 |
|
B | ||
| 28372 | chr11 | 118979578 | C | T |
c.521C>T
|
p.Pro174Leu
|
- | 3.0 |
|
B | |
| 25252 | chr11 | 118979618 | A | C |
c.561A>C
|
p.Arg187Ser
|
3.0 |
|
B | ||
| 20377 | chr11 | 118979678 | G | A |
c.611+10G>A
|
-
|
3.0 |
|
B | ||
| 16605 | chr11 | 118980618 | G | A |
c.740G>A
|
p.Arg247Gln
|
3.0 |
|
B | ||
| 16401 | chr11 | 118980641 | G | A |
c.763G>A
|
p.Glu255Lys
|
3.0 |
|
B | ||
| 14945 | chr11 | 119085041 | G | A |
-
c.8G>A
|
-
p.Gly3Asp
|
- | 3.0 |
|
B | |
| 14946 | chr11 | 119085074 | C | T |
-
c.33+8C>T
|
-
-
|
3.0 |
|
B | ||
| 27525 | chr11 | 119088635 | C | T |
c.88C>T
|
p.Leu30Phe
|
- | 3.0 |
|
B | |
| 14947 | chr11 | 119089090 | T | C |
c.169T>C
-
|
p.Ser57Pro
-
|
- | 3.0 |
|
B | |
| 13291 | chr11 | 119091462 | T | C |
c.548T>C
-
|
p.Phe183Ser
-
|
- | 3.0 |
|
B |