Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24761 | chr13 | 113823383 | T | G |
c.1645A>C
|
p.Lys549Gln
|
3.0 |
|
B | ||
| 21728 | chr13 | 113823500 | C | T |
c.1528G>A
|
p.Val510Met
|
3.0 |
|
B | ||
| 22371 | chr13 | 113826982 | G | A |
c.1477+14C>T
|
-
|
3.0 |
|
B | ||
| 26620 | chr13 | 113827089 | C | T |
c.1384G>A
|
p.Val462Met
|
- | 3.0 |
|
B | |
| 31722 | chr13 | 113832407 | C | A |
c.1035G>T
|
p.Trp345Cys
|
- | 3.0 |
|
B | |
| 31723 | chr13 | 113832408 | C | A |
c.1034G>T
|
p.Trp345Leu
|
- | 3.0 |
|
B | |
| 18604 | chr13 | 113832760 | G | A |
c.835-8C>T
|
-
|
2.0 |
|
B | ||
| 31954 | chr13 | 113832767 | G | A |
c.835-15C>T
|
-
|
3.0 |
|
B | ||
| 28218 | chr13 | 113835643 | C | CA |
c.590-9dup
|
-
|
3.0 |
|
B | ||
| 19680 | chr13 | 113835643 | CA | C |
c.590-9del
|
-
|
3.0 |
|
B | ||
| 27063 | chr13 | 113838056 | C | T |
c.589+13G>A
|
-
|
- | 3.0 |
|
B | |
| 14418 | chr13 | 113863560 | C | G |
c.255+15G>C
|
-
|
3.0 |
|
B | ||
| 12961 | chr13 | 113863629 | C | T |
c.201G>A
|
p.Glu67=
|
3.0 |
|
B | ||
| 22538 | chr13 | 113863851 | CCAG | C |
c.67_69del
|
p.Leu23del
|
3.0 |
|
B | ||
| 20080 | chr13 | 114291735 | CA | C |
c.798del
|
p.Glu267ArgfsTer13
|
3.0 |
|
B | ||
| 6729 | chr14 | 20345021 | G | C |
c.136G>C
|
p.Glu46Gln
|
- | 3.0 |
|
B | |
| 9253 | chr14 | 20346887 | G | A |
c.298G>A
|
p.Asp100Asn
|
- | 3.0 |
|
B | |
| 10226 | chr14 | 20346909 | A | G |
c.320A>G
|
p.Asn107Ser
|
- | 3.0 |
|
B | |
| 33504 | chr14 | 20352291 | G | A |
c.544G>A
|
p.Glu182Lys
|
- | 3.0 |
|
B | |
| 10054 | chr14 | 20352300 | C | T |
c.553C>T
|
p.Pro185Ser
|
- | 3.0 |
|
B |