Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35701 | chr13 | 28018505 | C | A |
c.2503G>T
|
p.Asp835Tyr
|
- |
|
B | ||
| 35703 | chr13 | 28018505 | C | G |
c.2503G>C
|
p.Asp835His
|
- |
|
B | ||
| 16431 | chr13 | 28018535 | C | A |
c.2473G>T
|
p.Val825Leu
|
- | 3.0 |
|
B | |
| 9997 | chr13 | 28018583 | G | A |
c.2425C>T
|
p.His809Tyr
|
- | 3.0 |
|
B | |
| 5043 | chr13 | 28023375 | C | T |
c.2393G>A
|
p.Gly798Glu
|
- | 3.0 |
|
B | |
| 17890 | chr13 | 28023450 | C | A |
c.2318G>T
|
p.Arg773Met
|
- | 3.0 |
|
B | |
| 23777 | chr13 | 28023475 | C | T |
c.2293G>A
|
p.Glu765Lys
|
- | 3.0 |
|
B | |
| 26577 | chr13 | 28024948 | TA | T |
c.2208-6del
|
-
|
3.0 |
|
B | ||
| 10475 | chr13 | 28027098 | G | T |
c.2197C>A
|
p.Pro733Thr
|
- | 3.0 |
|
B | |
| 29025 | chr13 | 28027170 | T | A |
c.2125A>T
|
p.Lys709Ter
|
- | 3.0 |
|
B | |
| 35707 | chr13 | 28027217 | T | C |
c.2078A>G
|
p.Tyr693Cys
|
- | - |
|
B | |
| 35708 | chr13 | 28027218 | A | T |
c.2077T>A
|
p.Tyr693Asn
|
- | - |
|
B | |
| 35706 | chr13 | 28027222 | A | C |
c.2073T>G
|
p.Phe691Leu
|
- |
|
B | ||
| 21707 | chr13 | 28028193 | C | A |
c.2038G>T
|
p.Ala680Ser
|
- | 3.0 |
|
B | |
| 35704 | chr13 | 28028203 | G | T |
c.2028C>A
|
p.Asn676Lys
|
- |
|
B | ||
| 25907 | chr13 | 28028205 | T | C |
c.2026A>G
|
p.Asn676Asp
|
3.5 |
|
B | ||
| 26143 | chr13 | 28028302 | G | A |
c.1943-14C>T
|
-
|
3.0 |
|
B | ||
| 12886 | chr13 | 28033965 | C | T |
c.1864G>A
|
p.Gly622Arg
|
- | 3.0 |
|
B | |
| 34672 | chr13 | 28034144 | A | G |
c.1775T>C
|
p.Val592Ala
|
3.0 |
|
B | ||
| 15036 | chr13 | 28034281 | AT | A |
c.1704+19del
|
-
|
3.0 |
|
B |