Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16962 | chr1 | 36467645 | G | A |
c.1871C>T
-
|
p.Ser624Leu
-
|
3.0 |
|
B | ||
| 10670 | chr1 | 36467814 | C | T |
c.1864+8G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 10416 | chr1 | 36467888 | G | A |
c.1798C>T
-
|
p.Leu600Phe
-
|
- | 3.0 |
|
B | |
| 11034 | chr1 | 36467893 | A | G |
c.1793T>C
-
|
p.Ile598Thr
-
|
3.0 |
|
B | ||
| 6755 | chr1 | 36468100 | C | A |
c.1698G>T
-
|
p.Trp566Cys
-
|
- | 3.0 |
|
B | |
| 12966 | chr1 | 36468126 | G | A |
c.1672C>T
-
|
p.Pro558Ser
-
|
- | 3.0 |
|
B | |
| 10550 | chr1 | 36468144 | G | T |
c.1654C>A
-
|
p.Pro552Thr
-
|
- | 3.0 |
|
B | |
| 24800 | chr1 | 36469186 | G | T |
c.1546C>A
-
|
p.Gln516Lys
-
|
- | 3.0 |
|
B | |
| 24636 | chr1 | 36469718 | C | T |
c.1408G>A
|
p.Ala470Thr
|
2.5 |
|
B | ||
| 10442 | chr1 | 36469721 | TG | T |
c.1404del
|
p.Ser469AlafsTer22
|
3.0 |
|
B | ||
| 26421 | chr1 | 36472238 | C | T |
c.997G>A
|
p.Ala333Thr
|
3.0 |
|
B | ||
| 21050 | chr1 | 36472384 | G | T |
c.851C>A
|
p.Pro284His
|
- | 3.0 |
|
B | |
| 1587 | chr1 | 36473758 | C | T |
c.485+6G>A
|
-
|
- | 3.0 |
|
B | |
| 24407 | chr1 | 36473788 | G | C |
c.461C>G
|
p.Thr154Ser
|
- | 3.0 |
|
B | |
| 16995 | chr1 | 36473867 | T | G |
c.382A>C
|
p.Asn128His
|
- | 3.0 |
|
B | |
| 32619 | chr1 | 36475431 | G | C |
c.307C>G
|
p.Leu103Val
|
- | 3.0 |
|
B | |
| 6454 | chr1 | 36475500 | C | A |
c.238G>T
|
p.Asp80Tyr
|
3.0 |
|
B | ||
| 3292 | chr1 | 38046574 | C | T |
c.170G>A
|
p.Trp57Ter
|
- | 3.0 |
|
B | |
| 19288 | chr1 | 39897629 | C | A |
c.838G>T
|
p.Val280Leu
|
- | 3.0 |
|
B | |
| 25117 | chr1 | 39897734 | C | T |
c.733G>A
|
p.Glu245Lys
|
3.0 |
|
B |