Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15519 | chr11 | 89178102 | C | T |
c.149C>T
|
p.Ser50Leu
|
3.5 |
|
B | ||
| 14834 | chr11 | 89178161 | C | T |
c.208C>T
|
p.Pro70Ser
|
3.0 |
|
B | ||
| 28833 | chr11 | 89178270 | G | C |
c.317G>C
|
p.Gly106Ala
|
3.0 |
|
B | ||
| 12636 | chr11 | 89178348 | A | G |
c.395A>G
|
p.Asp132Gly
|
- | 3.0 |
|
B | |
| 15890 | chr11 | 89178595 | C | A |
c.642C>A
|
p.Phe214Leu
|
- | 3.0 |
|
B | |
| 24991 | chr11 | 89178603 | G | A |
c.650G>A
|
p.Arg217Gln
|
3.0 |
|
B | ||
| 32626 | chr11 | 89178708 | T | A |
c.755T>A
|
p.Met252Lys
|
- | 3.0 |
|
B | |
| 31040 | chr11 | 89178716 | C | T |
c.763C>T
|
p.Gln255Ter
|
- | 3.0 |
|
B | |
| 12286 | chr11 | 89178732 | C | T |
c.779C>T
|
p.Pro260Leu
|
3.0 |
|
B | ||
| 34704 | chr11 | 89178749 | G | A |
c.796G>A
|
p.Ala266Thr
|
3.0 |
|
B | ||
| 28834 | chr11 | 89191233 | GCC | G |
c.852_853del
|
p.Ser284ArgfsTer16
|
- | 3.0 |
|
B | |
| 28835 | chr11 | 89191235 | C | CAAA |
c.854_855insAAA
|
p.His285delinsGlnAsn
|
- | 3.0 |
|
B | |
| 16429 | chr11 | 89191246 | A | C |
c.864A>C
|
p.Leu288Phe
|
3.0 |
|
B | ||
| 30993 | chr11 | 89191277 | C | A |
c.895C>A
|
p.Arg299Ser
|
3.0 |
|
B | ||
| 23873 | chr11 | 89227823 | G | T |
c.1037G>T
|
p.Gly346Val
|
3.0 |
|
B | ||
| 25065 | chr11 | 89284804 | C | T |
c.1216C>T
|
p.Pro406Ser
|
- | 3.0 |
|
B | |
| 19707 | chr11 | 89284811 | A | C |
c.1223A>C
|
p.Gln408Pro
|
- | 3.0 |
|
B | |
| 19708 | chr11 | 89284819 | T | C |
c.1231T>C
|
p.Tyr411His
|
- | 3.0 |
|
B | |
| 14413 | chr11 | 89284901 | T | A |
c.1313T>A
|
p.Phe438Tyr
|
- | 3.0 |
|
B | |
| 9562 | chr11 | 89295245 | C | T |
c.1469C>T
|
p.Ala490Val
|
- | 3.0 |
|
B |