Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32337 | chr5 | 159095653 | G | C |
c.378C>G
|
p.Phe126Leu
|
- | 3.0 |
|
B | |
| 22307 | chr5 | 159095665 | C | T |
c.366G>A
|
p.Thr122=
|
- | 3.0 |
|
B | |
| 18573 | chr5 | 159097120 | G | A |
c.145C>T
|
p.Leu49=
|
- | 3.0 |
|
B | |
| 25127 | chr5 | 159099366 | T | C |
c.113A>G
|
p.Asp38Gly
|
- | 3.0 |
|
B | |
| 17069 | chr5 | 159099412 | C | T |
c.67G>A
|
p.Gly23Ser
|
3.0 |
|
B | ||
| 13680 | chr5 | 159099450 | C | T |
c.29G>A
|
p.Arg10Gln
|
3.0 |
|
B | ||
| 19460 | chr5 | 159099588 | AT | A |
c.-111del
|
-
|
3.0 |
|
B | ||
| 5735 | chr5 | 159158732 | A | T |
c.1930T>A
|
p.Phe644Ile
|
- | 3.0 |
|
B | |
| 26754 | chr5 | 160092495 | G | A |
c.2155C>T
|
p.Arg719Cys
|
3.0 |
|
B | ||
| 22730 | chr5 | 160092846 | C | T |
c.1804G>A
|
p.Glu602Lys
|
- | 3.0 |
|
B | |
| 26752 | chr5 | 160093128 | A | C |
c.1522T>G
|
p.Ser508Ala
|
- | 3.0 |
|
B | |
| 26753 | chr5 | 160093559 | T | G |
c.1091A>C
|
p.Lys364Thr
|
- | 3.0 |
|
B | |
| 35675 | chr5 | 160093725 | T | C |
c.925A>G
|
p.Ile309Val
|
3.0 |
|
B | ||
| 17097 | chr5 | 160093931 | G | A |
c.719C>T
|
p.Pro240Leu
|
- | 3.0 |
|
B | |
| 22731 | chr5 | 160119084 | G | A |
c.305C>T
|
p.Ser102Leu
|
- | 3.0 |
|
B | |
| 33086 | chr5 | 160119194 | C | G |
c.195G>C
|
p.Glu65Asp
|
3.0 |
|
B | ||
| 19134 | chr5 | 160119267 | G | A |
c.122C>T
|
p.Pro41Leu
|
- | 3.0 |
|
B | |
| 31624 | chr5 | 160119271 | G | T |
c.118C>A
|
p.Leu40Ile
|
- | 3.0 |
|
B | |
| 20736 | chr5 | 160119325 | C | T |
c.64G>A
|
p.Glu22Lys
|
3.0 |
|
B | ||
| 24609 | chr5 | 161686026 | TG | T |
c.38+1del
|
p.?
|
- | 3.0 |
|
B |