Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14896 | chr11 | 123059206 | C | G |
c.1176G>C
|
p.Leu392=
|
- | 3.0 |
|
B | |
| 6227 | chr11 | 123059510 | C | G |
c.1083G>C
|
p.Lys361Asn
|
- | 3.0 |
|
B | |
| 5473 | chr11 | 123059779 | G | A |
c.814C>T
|
p.Arg272Cys
|
3.0 |
|
B | ||
| 7157 | chr11 | 123059811 | C | T |
c.782G>A
|
p.Arg261Lys
|
- | 3.0 |
|
B | |
| 10098 | chr11 | 123059839 | CCTT | C |
c.751_753del
|
p.Lys251del
|
- | 3.0 |
|
B | |
| 8087 | chr11 | 123059874 | T | C |
c.719A>G
|
p.His240Arg
|
- | 3.0 |
|
B | |
| 1942 | chr11 | 123060273 | G | A |
c.412-5C>T
|
-
|
3.0 |
|
B | ||
| 24532 | chr11 | 123060335 | T | A |
c.412-67A>T
|
-
|
- | 3.0 |
|
B | |
| 6462 | chr11 | 123060630 | G | T |
c.374C>A
|
p.Thr125Lys
|
- | 3.0 |
|
B | |
| 12956 | chr11 | 123060729 | A | T |
c.275T>A
|
p.Phe92Tyr
|
- | 3.0 |
|
B | |
| 7190 | chr11 | 123061173 | ATCAACCGTTCAGTGTCCGTAAAG | A |
c.129_151del
|
p.Phe44ArgfsTer2
|
- | 3.0 |
|
B | |
| 18598 | chr11 | 123061340 | G | A |
c.-5-11C>T
|
-
|
- | 3.0 |
|
B | |
| 5198 | chr11 | 124137025 | C | T |
c.1636C>T
|
p.His546Tyr
|
- | 3.0 |
|
B | |
| 18141 | chr11 | 125625873 | C | T |
-
c.-160C>T
|
-
-
|
- | 3.0 |
|
B | |
| 23512 | chr11 | 125626009 | T | A |
-
c.-24T>A
|
-
-
|
- | 3.0 |
|
B | |
| 25922 | chr11 | 125629237 | G | C |
c.295G>C
|
p.Asp99His
|
- | 3.0 |
|
B | |
| 25923 | chr11 | 125629270 | T | A |
c.328T>A
|
p.Phe110Ile
|
- | 3.0 |
|
B | |
| 4144 | chr11 | 125633216 | C | T |
c.478C>T
|
p.Arg160Cys
|
3.0 |
|
B | ||
| 29713 | chr11 | 125633297 | G | T |
c.559G>T
|
p.Glu187Ter
|
- | 4.0 |
|
B | |
| 7629 | chr11 | 125635464 | G | C |
c.649G>C
|
p.Glu217Gln
|
- | 3.0 |
|
B |