Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1863 | chr10 | 68652513 | A | C |
c.4380A>C
|
p.Lys1460Asn
|
- | 3.0 |
|
B | |
| 13870 | chr10 | 68652525 | A | G |
c.4392A>G
|
p.Ile1464Met
|
- | 3.0 |
|
B | |
| 2019 | chr10 | 68667058 | G | T |
c.4475G>T
|
p.Ser1492Ile
|
- | 3.0 |
|
B | |
| 10312 | chr10 | 68667240 | T | TG |
c.4658dup
|
p.Cys1553TrpfsTer5
|
- | 4.0 |
|
B | |
| 29430 | chr10 | 68681399 | GA | G |
c.4832del
|
p.Asn1611ThrfsTer13
|
3.5 |
|
B | ||
| 35453 | chr10 | 68681438 | C | T |
c.4864C>T
|
p.Arg1622Ter
|
- | 4.0 |
|
B | |
| 8753 | chr10 | 68686557 | C | T |
c.5254C>T
|
p.Pro1752Ser
|
3.0 |
|
B | ||
| 6912 | chr10 | 68686570 | A | G |
c.5267A>G
|
p.Lys1756Arg
|
- | 3.0 |
|
B | |
| 5482 | chr10 | 68691048 | C | T |
c.5645C>T
|
p.Thr1882Met
|
3.0 |
|
B | ||
| 34030 | chr10 | 68691098 | C | T |
c.5695C>T
|
p.Pro1899Ser
|
- | 3.0 |
|
B | |
| 7763 | chr10 | 68691403 | C | G |
c.6000C>G
|
p.Ile2000Met
|
- | 3.0 |
|
B | |
| 8052 | chr10 | 68691428 | G | T |
c.6025G>T
|
p.Val2009Leu
|
- | 3.0 |
|
B | |
| 2167 | chr10 | 68691476 | C | T |
c.6073C>T
|
p.Arg2025Ter
|
3.5 |
|
B | ||
| 27354 | chr10 | 68691690 | C | G |
c.6287C>G
|
p.Ser2096Cys
|
3.0 |
|
B | ||
| 16127 | chr10 | 68691696 | T | C |
c.6293T>C
|
p.Val2098Ala
|
- | 3.0 |
|
B | |
| 7449 | chr10 | 68736868 | C | T |
c.74-8C>T
|
-
|
3.0 |
|
B | ||
| 33769 | chr10 | 68737826 | T | A |
c.247-19T>A
|
-
|
3.0 |
|
B | ||
| 33401 | chr10 | 68740619 | C | T |
c.292-10C>T
|
-
|
- | 3.0 |
|
B | |
| 30150 | chr10 | 68742443 | C | G |
c.392C>G
|
p.Ser131Ter
|
- | 3.5 |
|
B | |
| 11523 | chr10 | 68747145 | C | T |
c.519-16C>T
|
-
|
3.0 |
|
B |