Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33016 | chr5 | 143147276 | C | T |
c.1883C>T
|
p.Ser628Leu
|
3.0 |
|
B | ||
| 12327 | chr5 | 143207183 | T | G |
c.1989-15T>G
|
-
|
3.0 |
|
B | ||
| 23720 | chr5 | 143207230 | C | T |
c.2021C>T
|
p.Ser674Leu
|
3.0 |
|
B | ||
| 16321 | chr5 | 143207443 | G | A |
c.2099+135G>A
|
-
|
- | 3.5 |
|
B | |
| 1583 | chr5 | 143222429 | T | TA |
c.2264dup
|
p.Tyr755Ter
|
- | 3.5 |
|
B | |
| 4491 | chr5 | 146000172 | G | A |
c.493G>A
|
p.Gly165Arg
|
3.0 |
|
B | ||
| 20219 | chr5 | 146267756 | TA | T |
c.2448del
|
p.Lys816AsnfsTer5
|
3.0 |
|
B | ||
| 20319 | chr5 | 146507159 | CA | C |
c.2921del
|
p.Lys974ArgfsTer17
|
3.0 |
|
B | ||
| 20320 | chr5 | 148120311 | GAA | G |
c.2467_2468del
|
p.Lys823GlufsTer4
|
3.0 |
|
B | ||
| 3395 | chr5 | 148175388 | G | A |
c.284G>A
|
p.Gly95Glu
|
- | 3.0 |
|
B | |
| 3636 | chr5 | 148481477 | C | T |
-
|
-
|
3.0 |
|
B | ||
| 3314 | chr5 | 149251363 | C | T |
c.1793C>T
|
p.Pro598Leu
|
- | 3.0 |
|
B | |
| 30984 | chr5 | 149507114 | G | T |
c.770C>A
|
p.Ala257Glu
|
- | 3.0 |
|
B | |
| 26110 | chr5 | 149511852 | G | C |
c.617C>G
|
p.Ser206Ter
|
- | 3.0 |
|
B | |
| 32147 | chr5 | 149511857 | C | T |
c.612G>A
|
p.Met204Ile
|
- | 3.0 |
|
B | |
| 24446 | chr5 | 149520289 | C | T |
c.456+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 3573 | chr5 | 149944649 | C | T |
c.25G>A
|
p.Val9Met
|
3.0 |
|
B | ||
| 3155 | chr5 | 150055230 | C | T |
-
c.2654+7G>A
|
-
-
|
2.5 |
|
B | ||
| 31765 | chr5 | 150056102 | G | T |
-
c.2478C>A
|
-
p.Ser826Arg
|
- | 3.0 |
|
B | |
| 7911 | chr5 | 150056138 | C | A |
-
c.2443-1G>T
|
-
p.?
|
- | 3.0 |
|
B |