Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27697 | chr5 | 38947380 | G | C |
c.4198C>G
|
p.Gln1400Glu
|
- | 3.0 |
|
B | |
| 10422 | chr5 | 38949354 | A | G |
c.4136+358T>C
|
-
|
- | 3.0 |
|
B | |
| 15625 | chr5 | 38949808 | T | G |
c.4040A>C
|
p.His1347Pro
|
- | 3.0 |
|
B | |
| 25369 | chr5 | 38949997 | G | A |
c.3851C>T
|
p.Ser1284Leu
|
3.0 |
|
B | ||
| 29332 | chr5 | 38950064 | TA | T |
c.3783del
|
p.Thr1263LeufsTer8
|
- | 3.0 |
|
B | |
| 10019 | chr5 | 38950141 | G | A |
c.3707C>T
|
p.Pro1236Leu
|
- | 3.0 |
|
B | |
| 10230 | chr5 | 38950156 | G | A |
c.3692C>T
|
p.Ser1231Leu
|
- | 3.0 |
|
B | |
| 27868 | chr5 | 38950211 | T | A |
c.3637A>T
|
p.Met1213Leu
|
- | 3.0 |
|
B | |
| 34894 | chr5 | 38950489 | A | G |
c.3359T>C
|
p.Leu1120Ser
|
- | 3.0 |
|
B | |
| 27446 | chr5 | 38950597 | G | A |
c.3251C>T
|
p.Ser1084Leu
|
- | 3.0 |
|
B | |
| 19450 | chr5 | 38952333 | C | T |
c.2990G>A
|
p.Arg997His
|
3.0 |
|
B | ||
| 9159 | chr5 | 38952406 | C | G |
c.2917G>C
|
p.Gly973Arg
|
- | 3.0 |
|
B | |
| 3849 | chr5 | 38952415 | A | G |
c.2908T>C
|
p.Tyr970His
|
- | 3.0 |
|
B | |
| 27347 | chr5 | 38953557 | G | A |
c.2698-4C>T
|
-
|
3.0 |
|
B | ||
| 17272 | chr5 | 38958510 | G | A |
c.2353C>T
|
p.His785Tyr
|
- | 3.0 |
|
B | |
| 25182 | chr5 | 38958710 | G | A |
c.2300C>T
|
p.Ser767Phe
|
- | 3.0 |
|
B | |
| 13668 | chr5 | 38958851 | C | A |
c.2179-20G>T
|
-
|
3.0 |
|
B | ||
| 19451 | chr5 | 38959329 | G | GA |
c.2052-9dup
|
-
|
3.0 |
|
B | ||
| 20003 | chr5 | 38959329 | GA | G |
c.2052-9del
|
-
|
3.0 |
|
B | ||
| 32579 | chr5 | 38959805 | C | T |
c.2025G>A
|
p.Met675Ile
|
- | 3.0 |
|
B |