Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23595 | chr1 | 26760891 | GA | G |
c.1957del
|
p.Thr653GlnfsTer5
|
- | 4.0 |
|
B | |
| 7427 | chr1 | 26760949 | G | GA |
c.2015dup
|
p.Gln673AlafsTer3
|
- | 4.0 |
|
B | |
| 35627 | chr1 | 26760960 | TC | T |
c.2027del
|
p.Pro676GlnfsTer66
|
- | 4.0 |
|
B | |
| 31119 | chr1 | 26760967 | C | T |
c.2032C>T
|
p.Gln678Ter
|
- | 4.0 |
|
B | |
| 33716 | chr1 | 26761033 | G | A |
c.2098G>A
|
p.Val700Ile
|
- | 3.0 |
|
B | |
| 1579 | chr1 | 26761039 | TC | T |
c.2105del
|
p.Ser702PhefsTer40
|
- | 4.0 |
|
B | |
| 7506 | chr1 | 26761416 | C | T |
c.2194C>T
|
p.Gln732Ter
|
- | 4.0 |
|
B | |
| 30563 | chr1 | 26761470 | C | T |
c.2248C>T
|
p.Arg750Ter
|
- | 4.0 |
|
B | |
| 19500 | chr1 | 26762167 | AC | A |
c.2272del
|
p.Gln758ArgfsTer75
|
- | 4.0 |
|
B | |
| 8339 | chr1 | 26762190 | T | TC |
c.2296dup
|
p.Gln766ProfsTer51
|
- | 4.0 |
|
B | |
| 7437 | chr1 | 26762191 | C | T |
c.2291C>T
|
p.Ser764Phe
|
3.0 |
|
B | ||
| 25033 | chr1 | 26762226 | C | T |
c.2326C>T
|
p.Pro776Ser
|
- | 3.0 |
|
B | |
| 22461 | chr1 | 26763071 | C | T |
c.2518C>T
|
p.Gln840Ter
|
- | 4.0 |
|
B | |
| 31877 | chr1 | 26763081 | G | T |
c.2528G>T
|
p.Gly843Val
|
- | 3.0 |
|
B | |
| 1206 | chr1 | 26763111 | TC | T |
c.2561del
|
p.Pro854LeufsTer5
|
- | 4.0 |
|
B | |
| 4994 | chr1 | 26763157 | T | G |
c.2604T>G
|
p.Tyr868Ter
|
- | 4.0 |
|
B | |
| 86 | chr1 | 26763185 | C | T |
c.2632C>T
|
p.Gln878Ter
|
- | 4.56 |
|
S | |
| 25421 | chr1 | 26763190 | TG | T |
c.2640del
|
p.Ser881GlnfsTer10
|
- | 4.0 |
|
B | |
| 9588 | chr1 | 26763195 | C | A |
c.2642C>A
|
p.Ser881Ter
|
- | 4.0 |
|
B | |
| 1852 | chr1 | 26763214 | AG | A |
c.2666del
|
p.Gly889AlafsTer2
|
- | 4.0 |
|
B |