Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7171 | chr19 | 38494408 | G | A |
c.6331G>A
|
p.Val2111Met
|
3.0 |
|
B | ||
| 6321 | chr19 | 38494415 | GC | G |
c.6342del
|
p.Glu2115SerfsTer39
|
- | 3.0 |
|
B | |
| 7663 | chr19 | 38494496 | G | A |
c.6419G>A
|
p.Arg2140Gln
|
3.0 |
|
B | ||
| 21200 | chr19 | 38494522 | G | A |
c.6445G>A
|
p.Val2149Met
|
3.0 |
|
B | ||
| 3928 | chr19 | 38494546 | G | A |
c.6469G>A
|
p.Glu2157Lys
|
3.0 |
|
B | ||
| 8439 | chr19 | 38496247 | A | G |
c.6581A>G
|
p.His2194Arg
|
- | 3.0 |
|
B | |
| 24234 | chr19 | 38496306 | G | A |
c.6640G>A
|
p.Val2214Ile
|
3.0 |
|
B | ||
| 32099 | chr19 | 38496310 | T | C |
c.6644T>C
|
p.Leu2215Pro
|
- | 3.0 |
|
B | |
| 26018 | chr19 | 38496411 | G | T |
c.6666G>T
|
p.Glu2222Asp
|
- | 3.0 |
|
B | |
| 18504 | chr19 | 38496416 | G | A |
c.6671G>A
|
p.Arg2224His
|
3.0 |
|
B | ||
| 33960 | chr19 | 38496464 | G | T |
c.6719G>T
|
p.Cys2240Phe
|
- | 3.0 |
|
B | |
| 20173 | chr19 | 38496466 | C | T |
c.6721C>T
|
p.Arg2241Ter
|
3.0 |
|
B | ||
| 31466 | chr19 | 38499637 | G | A |
c.7030G>A
|
p.Glu2344Lys
|
3.0 |
|
B | ||
| 11564 | chr19 | 38499643 | G | A |
c.7036G>A
|
p.Val2346Met
|
3.5 |
|
B | ||
| 26011 | chr19 | 38499712 | C | T |
c.7105C>T
|
p.Arg2369Trp
|
- | 3.0 |
|
B | |
| 12933 | chr19 | 38499800 | G | A |
c.7193G>A
|
p.Arg2398His
|
3.0 |
|
B | ||
| 7074 | chr19 | 38499812 | GGC | G |
c.7209_7210del
|
p.Glu2404AlafsTer4
|
- | 3.0 |
|
B | |
| 12773 | chr19 | 38499918 | G | A |
c.7225G>A
|
p.Glu2409Lys
|
- | 3.0 |
|
B | |
| 1146 | chr19 | 38500643 | G | A |
c.7361G>A
|
p.Arg2454His
|
3.5 |
|
B | ||
| 21885 | chr19 | 38500655 | G | A |
c.7373G>A
|
p.Arg2458His
|
3.0 |
|
B |