Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34294 | chr13 | 20981475 | G | A |
c.2656C>T
|
p.Leu886Phe
|
3.0 |
|
B | ||
| 5860 | chr13 | 20981631 | C | A |
c.2500G>T
|
p.Asp834Tyr
|
- | 3.0 |
|
B | |
| 1203 | chr13 | 20983295 | T | G |
c.2411A>C
|
p.His804Pro
|
- | 3.0 |
|
B | |
| 24313 | chr13 | 20983425 | C | G |
c.2281G>C
|
p.Glu761Gln
|
- | 3.0 |
|
B | |
| 26031 | chr13 | 20983457 | C | T |
c.2249G>A
|
p.Gly750Asp
|
- | 3.0 |
|
B | |
| 5910 | chr13 | 20983605 | T | C |
c.2101A>G
|
p.Lys701Glu
|
- | 3.0 |
|
B | |
| 31557 | chr13 | 20987887 | C | T |
c.1893G>A
|
p.Met631Ile
|
- | 3.0 |
|
B | |
| 9171 | chr13 | 20988021 | C | A |
c.1759G>T
|
p.Glu587Ter
|
- | 3.5 |
|
B | |
| 20114 | chr13 | 20988042 | C | T |
c.1738G>A
|
p.Val580Ile
|
- | 3.0 |
|
B | |
| 5836 | chr13 | 20988321 | T | C |
c.1459A>G
|
p.Lys487Glu
|
3.0 |
|
B | ||
| 6786 | chr13 | 20988651 | G | A |
c.1129C>T
|
p.Arg377Cys
|
3.0 |
|
B | ||
| 9026 | chr13 | 20988809 | G | A |
c.971C>T
|
p.Ala324Val
|
1.0 |
|
B | ||
| 17445 | chr13 | 20988961 | G | A |
c.819C>T
|
p.Pro273=
|
3.0 |
|
B | ||
| 17345 | chr13 | 20988962 | G | A |
c.818C>T
|
p.Pro273Leu
|
3.0 |
|
B | ||
| 15465 | chr13 | 20989014 | GC | G |
c.765del
|
p.Pro256ArgfsTer177
|
- | 4.0 |
|
B | |
| 21194 | chr13 | 20989172 | G | A |
c.608C>T
|
p.Ala203Val
|
2.0 |
|
B | ||
| 19328 | chr13 | 20989214 | G | A |
c.566C>T
|
p.Thr189Ile
|
- | 3.0 |
|
B | |
| 31041 | chr13 | 20989313 | G | GA |
c.476-10dup
|
-
|
3.0 |
|
B | ||
| 34343 | chr13 | 20989323 | G | A |
c.476-19C>T
|
-
|
3.0 |
|
B | ||
| 607 | chr13 | 20991353 | C | T |
c.394G>A
|
p.Ala132Thr
|
3.0 |
|
B |