Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31484 | chr7 | 128087068 | C | T |
c.2418+17C>T
|
-
|
3.0 |
|
B | ||
| 16598 | chr7 | 128091889 | C | T |
c.2667+8C>T
|
-
|
- | 3.0 |
|
B | |
| 13782 | chr7 | 128830620 | C | A |
c.-18C>A
|
-
|
3.0 |
|
B | ||
| 23918 | chr7 | 128830694 | C | A |
c.57C>A
|
p.Asp19Glu
|
3.0 |
|
B | ||
| 20345 | chr7 | 128830860 | G | A |
c.223G>A
|
p.Glu75Lys
|
3.0 |
|
B | ||
| 20675 | chr7 | 128830887 | C | T |
c.250C>T
|
p.Arg84Cys
|
- | 3.0 |
|
B | |
| 29978 | chr7 | 128830903 | G | A |
c.266G>A
|
p.Arg89His
|
3.0 |
|
B | ||
| 12911 | chr7 | 128830915 | G | A |
c.278G>A
|
p.Arg93His
|
- | 3.0 |
|
B | |
| 22660 | chr7 | 128830999 | G | A |
c.352+10G>A
|
-
|
1.5 |
|
B | ||
| 24691 | chr7 | 128835362 | T | C |
c.389T>C
|
p.Ile130Thr
|
- | 3.0 |
|
B | |
| 32798 | chr7 | 128837201 | G | A |
c.643G>A
|
p.Val215Met
|
2.5 |
|
B | ||
| 20346 | chr7 | 128837394 | G | A |
c.700-4G>A
|
-
|
2.0 |
|
B | ||
| 19269 | chr7 | 128837431 | G | A |
c.733G>A
|
p.Val245Met
|
- | 3.0 |
|
B | |
| 30131 | chr7 | 128837453 | C | T |
c.755C>T
|
p.Thr252Ile
|
- | 3.0 |
|
B | |
| 21727 | chr7 | 128837734 | C | A |
c.948C>A
|
p.Asp316Glu
|
- | 3.0 |
|
B | |
| 30485 | chr7 | 128837969 | C | T |
c.970-18C>T
|
-
|
- | 2.0 |
|
B | |
| 33272 | chr7 | 128838082 | C | T |
c.1047+18C>T
|
-
|
- | 3.0 |
|
B | |
| 29334 | chr7 | 128838307 | C | T |
c.1088C>T
|
p.Pro363Leu
|
- | 3.0 |
|
B | |
| 24560 | chr7 | 128838617 | G | A |
c.1225G>A
|
p.Asp409Asn
|
3.0 |
|
B | ||
| 19610 | chr7 | 128840165 | G | A |
c.1549+5G>A
|
-
|
- | 3.0 |
|
B |