Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21442 | chr1 | 10320047 | A | C |
c.2120A>C
|
p.Tyr707Ser
|
- | 3.0 |
|
B | |
| 28066 | chr1 | 10321702 | C | T |
c.2210-7C>T
|
-
|
- | 3.0 |
|
B | |
| 31874 | chr1 | 10321771 | C | T |
c.2272C>T
|
p.Gln758Ter
|
- | 3.0 |
|
B | |
| 20887 | chr1 | 10323924 | C | T |
c.2399C>T
|
p.Ser800Phe
|
3.0 |
|
B | ||
| 29962 | chr1 | 10323927 | C | T |
c.2402C>T
|
p.Pro801Leu
|
- | 3.0 |
|
B | |
| 26240 | chr1 | 10324077 | A | G |
c.2537+15A>G
|
-
|
2.0 |
|
B | ||
| 11350 | chr1 | 10326092 | C | T |
c.2676-19C>T
|
-
|
2.5 |
|
B | ||
| 31164 | chr1 | 10337197 | G | T |
c.3253G>T
|
p.Asp1085Tyr
|
- | 3.0 |
|
B | |
| 17846 | chr1 | 10339856 | G | T |
c.3510G>T
|
p.Gln1170His
|
- | 3.0 |
|
B | |
| 12478 | chr1 | 10345837 | TTTAAAA | T |
c.3689-7_3689-2del
|
p.?
|
- | 3.0 |
|
B | |
| 7301 | chr1 | 10345897 | G | C |
c.3741G>C
|
p.Met1247Ile
|
- | 3.0 |
|
B | |
| 24238 | chr1 | 10352608 | G | GT |
c.3950-15dup
|
-
|
3.0 |
|
B | ||
| 24115 | chr1 | 10352608 | GT | G |
c.3950-15del
|
-
|
3.0 |
|
B | ||
| 21497 | chr1 | 10363350 | C | A |
c.4366+6C>A
|
-
|
- | 3.0 |
|
B | |
| 12423 | chr1 | 10371271 | C | T |
c.4946+9C>T
|
-
|
1.0 |
|
B | ||
| 32429 | chr1 | 10374853 | G | T |
c.5097-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 22815 | chr1 | 10374858 | G | A |
c.5101G>A
|
p.Val1701Met
|
- | 3.0 |
|
B | |
| 28568 | chr1 | 10375005 | G | C |
c.5248G>C
|
p.Ala1750Pro
|
- | 3.0 |
|
B | |
| 20262 | chr1 | 10378358 | G | A |
c.*1771G>A
|
-
|
3.0 |
|
B | ||
| 3114 | chr1 | 11108260 | A | C |
c.7555T>G
|
p.Leu2519Val
|
- | 3.0 |
|
B |