Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25020 | chr1 | 1203593 | A | G |
c.*251T>C
|
-
|
3.0 |
|
B | ||
| 34544 | chr1 | 1203664 | G | T |
c.*180C>A
|
-
|
3.0 |
|
B | ||
| 30780 | chr1 | 1203908 | G | T |
c.662C>A
|
p.Pro221His
|
- | 3.0 |
|
B | |
| 35585 | chr1 | 1204037 | G | A |
c.598C>T
|
p.Arg200Ter
|
3.0 |
|
B | ||
| 27918 | chr1 | 1204138 | A | C |
c.497T>G
|
p.Leu166Arg
|
- | 3.0 |
|
B | |
| 31681 | chr1 | 1204214 | T | A |
c.421A>T
|
p.Thr141Ser
|
- | 3.0 |
|
B | |
| 13053 | chr1 | 1204424 | C | T |
c.373G>A
|
p.Glu125Lys
|
3.0 |
|
S | ||
| 19287 | chr1 | 1205474 | T | G |
c.206A>C
|
p.Glu69Ala
|
- | 3.0 |
|
B | |
| 19156 | chr1 | 1206561 | T | A |
-
c.11A>T
|
-
p.His4Leu
|
- | 3.0 |
|
B | |
| 15613 | chr1 | 1206567 | G | T |
-
c.5C>A
|
-
p.Ala2Glu
|
- | 3.0 |
|
B | |
| 25482 | chr1 | 1211458 | C | G |
c.*97G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 18017 | chr1 | 1211579 | G | A |
c.810C>T
-
|
p.Ala270=
-
|
- | 3.0 |
|
B | |
| 12137 | chr1 | 1211584 | C | T |
c.805G>A
-
|
p.Asp269Asn
-
|
3.0 |
|
B | ||
| 11283 | chr1 | 1211688 | G | T |
c.763+16C>A
|
-
|
- | 3.0 |
|
B | |
| 26643 | chr1 | 1211710 | G | T |
c.757C>A
|
p.Pro253Thr
|
- | 3.0 |
|
B | |
| 26192 | chr1 | 1211722 | C | G |
c.745G>C
|
p.Asp249His
|
- | 3.0 |
|
B | |
| 16530 | chr1 | 1211831 | G | A |
c.636C>T
|
p.Gly212=
|
- | 3.0 |
|
B | |
| 9539 | chr1 | 1211945 | C | A |
-
c.631G>T
|
-
p.Gly211Trp
|
- | 3.0 |
|
B | |
| 9540 | chr1 | 1211951 | C | A |
-
c.625G>T
|
-
p.Val209Phe
|
- | 3.0 |
|
B | |
| 18487 | chr1 | 1212059 | C | A |
-
c.517G>T
|
-
p.Ala173Ser
|
- | 3.0 |
|
B |