Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2017 | chr5 | 39074328 | C | T |
c.49+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 8788 | chr5 | 39074356 | G | T |
c.22C>A
|
p.Arg8Ser
|
- | 3.0 |
|
B | |
| 3632 | chr5 | 41009291 | C | T |
c.3409G>A
|
p.Glu1137Lys
|
- | 3.0 |
|
B | |
| 4487 | chr5 | 41142857 | C | T |
c.2773G>A
|
p.Glu925Lys
|
3.0 |
|
B | ||
| 3306 | chr5 | 41382226 | C | T |
c.412G>A
|
p.Glu138Lys
|
3.0 |
|
B | ||
| 16591 | chr5 | 44305062 | C | T |
c.560G>A
|
p.Arg187Lys
|
3.0 |
|
B | ||
| 27521 | chr5 | 44305072 | C | G |
c.550G>C
|
p.Gly184Arg
|
- | 3.0 |
|
B | |
| 23796 | chr5 | 44305072 | C | T |
c.550G>A
|
p.Gly184Arg
|
3.0 |
|
B | ||
| 28693 | chr5 | 44305104 | C | T |
c.518G>A
|
p.Gly173Glu
|
- | 3.0 |
|
B | |
| 2210 | chr5 | 44305125 | G | T |
c.497C>A
|
p.Ser166Ter
|
- | 3.0 |
|
B | |
| 24842 | chr5 | 44305163 | C | A |
c.459G>T
|
p.Lys153Asn
|
- | 3.0 |
|
B | |
| 560 | chr5 | 44305167 | A | C |
c.455T>G
|
p.Leu152Arg
|
- | 3.0 |
|
B | |
| 12719 | chr5 | 44305201 | G | A |
c.430-9C>T
|
-
|
- | 3.0 |
|
B | |
| 8716 | chr5 | 44310443 | C | A |
c.413G>T
|
p.Gly138Val
|
- | 3.0 |
|
B | |
| 13946 | chr5 | 44310462 | A | C |
c.394T>G
|
p.Leu132Val
|
- | 3.0 |
|
B | |
| 23155 | chr5 | 44388414 | A | T |
c.269T>A
|
p.Leu90His
|
- | 3.0 |
|
B | |
| 9237 | chr5 | 44388578 | G | A |
c.105C>T
|
p.Val35=
|
- | 3.0 |
|
B | |
| 30937 | chr5 | 44388614 | G | T |
c.69C>A
|
p.Cys23Ter
|
- | 3.0 |
|
B | |
| 22647 | chr5 | 44388648 | G | A |
c.35C>T
|
p.Ala12Val
|
- | 3.0 |
|
B | |
| 31804 | chr5 | 44388716 | A | C |
c.-34T>G
|
-
|
3.0 |
|
B |