Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31736 | chr19 | 21537891 | A | G |
c.1838A>G
|
p.Lys613Arg
|
3.0 |
|
B | ||
| 26234 | chr19 | 21537980 | C | T |
c.1927C>T
|
p.His643Tyr
|
- | 3.0 |
|
B | |
| 25896 | chr19 | 21538029 | G | T |
c.1976G>T
|
p.Gly659Val
|
- | 3.0 |
|
B | |
| 17971 | chr19 | 21538031 | A | T |
c.1978A>T
|
p.Arg660Ter
|
3.0 |
|
B | ||
| 14308 | chr19 | 21538068 | G | A |
c.2015G>A
|
p.Arg672His
|
3.0 |
|
B | ||
| 8989 | chr19 | 29812965 | T | G |
c.112-4T>G
|
-
|
- | 3.0 |
|
B | |
| 4915 | chr19 | 29820718 | A | G |
c.479A>G
|
p.Lys160Arg
|
3.0 |
|
B | ||
| 32158 | chr19 | 29820763 | G | T |
c.524G>T
|
p.Arg175Leu
|
- | 3.0 |
|
B | |
| 34947 | chr19 | 29822312 | T | C |
c.913T>C
|
p.Tyr305His
|
- | 3.0 |
|
B | |
| 7260 | chr19 | 29822315 | C | T |
c.916C>T
|
p.His306Tyr
|
- | 3.0 |
|
B | |
| 11152 | chr19 | 29823685 | T | G |
c.1141T>G
|
p.Ser381Ala
|
- | 3.0 |
|
B | |
| 24319 | chr19 | 29823704 | C | T |
c.1160C>T
|
p.Ser387Phe
|
- | 3.0 |
|
B | |
| 16477 | chr19 | 29823770 | T | C |
c.1226T>C
|
p.Met409Thr
|
- | 3.0 |
|
B | |
| 4551 | chr19 | 30445031 | G | A |
c.1469G>A
|
p.Gly490Glu
|
- | 3.0 |
|
B | |
| 25427 | chr19 | 32879334 | C | A |
c.2180G>T
|
p.Arg727Met
|
- | 3.0 |
|
B | |
| 34046 | chr19 | 32881932 | T | A |
c.2047A>T
|
p.Thr683Ser
|
- | 3.0 |
|
B | |
| 33410 | chr19 | 32882019 | C | T |
c.1966-6G>A
|
-
|
3.0 |
|
B | ||
| 22401 | chr19 | 32901227 | G | A |
c.1733+18C>T
|
-
|
3.0 |
|
B | ||
| 29910 | chr19 | 32901364 | C | G |
c.1614G>C
|
p.Leu538Phe
|
- | 3.0 |
|
B | |
| 23670 | chr19 | 32915347 | C | A |
c.1555G>T
|
p.Glu519Ter
|
- | 3.0 |
|
B |