Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2024 | chr19 | 38455528 | C | T |
c.1654C>T
|
p.Arg552Trp
|
3.0 |
|
B | ||
| 22459 | chr19 | 38455529 | G | A |
c.1655G>A
|
p.Arg552Gln
|
3.0 |
|
B | ||
| 32468 | chr19 | 38455551 | G | A |
c.1672+5G>A
|
-
|
- | 3.0 |
|
B | |
| 31827 | chr19 | 38457480 | C | T |
c.1792-17C>T
|
-
|
2.0 |
|
B | ||
| 34741 | chr19 | 38457619 | C | A |
c.1914C>A
|
p.Asn638Lys
|
- | 3.0 |
|
B | |
| 23196 | chr19 | 38457649 | G | A |
c.1925+19G>A
|
-
|
2.0 |
|
B | ||
| 9303 | chr19 | 38458190 | G | A |
c.2065G>A
|
p.Glu689Lys
|
3.0 |
|
B | ||
| 2229 | chr19 | 38458203 | C | T |
c.2078C>T
|
p.Pro693Leu
|
- | 3.0 |
|
B | |
| 11080 | chr19 | 38458215 | C | A |
c.2090C>A
|
p.Ala697Asp
|
- | 3.0 |
|
B | |
| 32469 | chr19 | 38458220 | G | A |
c.2095G>A
|
p.Glu699Lys
|
3.0 |
|
B | ||
| 7073 | chr19 | 38458232 | G | T |
c.2107G>T
|
p.Gly703Cys
|
- | 3.0 |
|
B | |
| 19149 | chr19 | 38458244 | G | A |
c.2119G>A
|
p.Gly707Ser
|
3.0 |
|
B | ||
| 5581 | chr19 | 38458266 | G | A |
c.2141G>A
|
p.Gly714Asp
|
- | 3.0 |
|
B | |
| 2448 | chr19 | 38459158 | G | A |
c.2180G>A
|
p.Arg727His
|
3.0 |
|
B | ||
| 19249 | chr19 | 38459236 | C | A |
c.2258C>A
|
p.Ser753Tyr
|
- | 3.0 |
|
B | |
| 4182 | chr19 | 38459248 | G | T |
c.2270G>T
|
p.Arg757Leu
|
3.0 |
|
B | ||
| 23170 | chr19 | 38459279 | T | A |
c.2301T>A
|
p.Phe767Leu
|
- | 3.0 |
|
B | |
| 30926 | chr19 | 38459306 | C | G |
c.2328C>G
|
p.Phe776Leu
|
- | 3.0 |
|
B | |
| 34217 | chr19 | 38459342 | A | T |
c.2360+4A>T
|
-
|
- | 3.0 |
|
B | |
| 12920 | chr19 | 38460380 | G | A |
c.2366G>A
|
p.Arg789Gln
|
2.5 |
|
B |