Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16128 | chr11 | 76544549 | G | C |
c.3045G>C
|
p.Arg1015Ser
|
- | 3.0 |
|
B | |
| 5943 | chr11 | 76544727 | C | A |
c.3223C>A
|
p.Gln1075Lys
|
- | 3.0 |
|
B | |
| 14697 | chr11 | 76544767 | C | T |
c.3263C>T
|
p.Thr1088Ile
|
3.0 |
|
B | ||
| 21327 | chr11 | 76544790 | C | T |
c.3286C>T
|
p.Pro1096Ser
|
- | 3.0 |
|
B | |
| 7318 | chr11 | 76544822 | G | C |
c.3318G>C
|
p.Gln1106His
|
- | 3.0 |
|
B | |
| 18645 | chr11 | 76545838 | G | C |
c.3360G>C
|
p.Lys1120Asn
|
- | 3.0 |
|
B | |
| 2578 | chr11 | 76545838 | G | T |
c.3360G>T
|
p.Lys1120Asn
|
- | 3.0 |
|
B | |
| 20375 | chr11 | 76545854 | C | T |
c.3376C>T
|
p.Arg1126Cys
|
3.0 |
|
B | ||
| 6301 | chr11 | 76546038 | A | G |
c.3560A>G
|
p.Lys1187Arg
|
- | 3.0 |
|
B | |
| 28915 | chr11 | 76546122 | C | T |
c.3644C>T
|
p.Ser1215Phe
|
- | 3.0 |
|
B | |
| 9298 | chr11 | 76546128 | C | T |
c.3650C>T
|
p.Pro1217Leu
|
- | 3.0 |
|
B | |
| 19705 | chr11 | 76546188 | C | T |
c.3710C>T
|
p.Thr1237Met
|
3.0 |
|
B | ||
| 7432 | chr11 | 76550060 | G | C |
c.3928G>C
|
p.Glu1310Gln
|
- | 3.0 |
|
B | |
| 5196 | chr11 | 77039813 | C | G |
c.262C>G
|
p.Arg88Gly
|
- | 3.0 |
|
B | |
| 30962 | chr11 | 77332798 | G | A |
c.1483C>T
|
p.Arg495Trp
|
3.0 |
|
B | ||
| 26969 | chr11 | 77336087 | C | T |
c.1412G>A
|
p.Arg471Lys
|
- | 3.0 |
|
B | |
| 8668 | chr11 | 77336212 | G | T |
c.1287C>A
|
p.Tyr429Ter
|
- | 3.0 |
|
B | |
| 32039 | chr11 | 77343850 | T | C |
c.967A>G
|
p.Lys323Glu
|
- | 3.0 |
|
B | |
| 9828 | chr11 | 77355756 | G | GT |
c.683dup
|
p.Asn228LysfsTer13
|
- | 3.0 |
|
B | |
| 27684 | chr11 | 77379228 | G | A |
c.439+13C>T
|
-
|
3.0 |
|
B |