Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6345 | chr5 | 157211329 | C | T |
c.286C>T
|
p.Arg96Cys
|
3.0 |
|
B | ||
| 6597 | chr5 | 157211339 | G | A |
c.296G>A
|
p.Arg99Gln
|
3.0 |
|
B | ||
| 11654 | chr5 | 157214194 | C | T |
c.329C>T
|
p.Thr110Met
|
3.0 |
|
B | ||
| 8262 | chr5 | 157214213 | G | T |
c.348G>T
|
p.Leu116Phe
|
- | 3.0 |
|
B | |
| 14738 | chr5 | 157214239 | G | A |
c.374G>A
|
p.Trp125Ter
|
- | 3.0 |
|
B | |
| 35118 | chr5 | 157214290 | G | T |
c.425G>T
|
p.Gly142Val
|
- | 3.0 |
|
B | |
| 8773 | chr5 | 157217894 | C | T |
c.482C>T
|
p.Pro161Leu
|
- | 3.0 |
|
B | |
| 18999 | chr5 | 157222864 | G | A |
c.497G>A
|
p.Arg166Gln
|
3.0 |
|
B | ||
| 7165 | chr5 | 157222938 | G | A |
c.571G>A
|
p.Ala191Thr
|
3.0 |
|
B | ||
| 10056 | chr5 | 157222948 | G | A |
c.581G>A
|
p.Arg194His
|
3.0 |
|
B | ||
| 10423 | chr5 | 157232363 | G | T |
c.737G>T
|
p.Arg246Leu
|
- | 3.0 |
|
B | |
| 7642 | chr5 | 157232404 | C | T |
c.768+10C>T
|
-
|
- | 3.0 |
|
B | |
| 35281 | chr5 | 157238121 | G | A |
c.781G>A
|
p.Ala261Thr
|
- | 3.0 |
|
B | |
| 20632 | chr5 | 157243603 | ACT | A |
c.1061-7_1061-6del
|
-
|
2.5 |
|
B | ||
| 19995 | chr5 | 157243742 | C | T |
c.1180C>T
|
p.Arg394Trp
|
3.0 |
|
B | ||
| 14067 | chr5 | 157244266 | C | G |
c.1237C>G
|
p.Leu413Val
|
- | 3.0 |
|
B | |
| 26179 | chr5 | 157244380 | C | T |
c.1351C>T
|
p.Arg451Trp
|
3.0 |
|
B | ||
| 18426 | chr5 | 157244464 | A | T |
c.1435A>T
|
p.Ile479Phe
|
- | 3.0 |
|
B | |
| 11815 | chr5 | 157245863 | C | T |
c.1515-18C>T
|
-
|
- | 2.5 |
|
B | |
| 30277 | chr5 | 157245926 | C | A |
c.1560C>A
|
p.Phe520Leu
|
- | 3.0 |
|
B |