Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5590 | chr7 | 45677954 | G | A |
c.1691G>A
|
p.Arg564His
|
3.0 |
|
B | ||
| 26445 | chr7 | 45677971 | A | T |
c.1708A>T
|
p.Ser570Cys
|
- | 3.0 |
|
B | |
| 23381 | chr7 | 45677975 | G | A |
c.1712G>A
|
p.Arg571His
|
- | 3.0 |
|
B | |
| 22327 | chr7 | 45677984 | A | G |
c.1721A>G
|
p.Glu574Gly
|
- | 3.0 |
|
B | |
| 29156 | chr7 | 45678076 | G | T |
c.1800+13G>T
|
-
|
- | 3.0 |
|
B | |
| 32998 | chr7 | 45678077 | G | A |
c.1800+14G>A
|
-
|
- | 3.0 |
|
B | |
| 9618 | chr7 | 45685010 | G | T |
c.2015G>T
|
p.Arg672Leu
|
- | 3.0 |
|
B | |
| 16595 | chr7 | 45685948 | C | T |
c.2074-14C>T
|
-
|
- | 3.0 |
|
B | |
| 4381 | chr7 | 45685958 | C | T |
c.2074-4C>T
|
-
|
3.0 |
|
B | ||
| 4294 | chr7 | 45686020 | C | T |
c.2132C>T
|
p.Ser711Leu
|
3.0 |
|
B | ||
| 16021 | chr7 | 45686196 | A | C |
c.2308A>C
|
p.Ser770Arg
|
- | 3.0 |
|
B | |
| 1965 | chr7 | 45686223 | T | C |
c.2327+8T>C
|
-
|
- | 3.0 |
|
B | |
| 8641 | chr7 | 45686561 | C | T |
c.2342C>T
|
p.Ser781Phe
|
- | 3.0 |
|
B | |
| 29769 | chr7 | 45686563 | G | A |
c.2344G>A
|
p.Gly782Arg
|
3.0 |
|
B | ||
| 10610 | chr7 | 45686575 | G | A |
c.2356G>A
|
p.Glu786Lys
|
3.0 |
|
B | ||
| 6296 | chr7 | 45686575 | G | C |
c.2356G>C
|
p.Glu786Gln
|
- | 3.0 |
|
B | |
| 9665 | chr7 | 45686576 | A | G |
c.2357A>G
|
p.Glu786Gly
|
- | 3.0 |
|
B | |
| 35045 | chr7 | 45703364 | A | T |
c.2455-12A>T
|
-
|
3.0 |
|
B | ||
| 12171 | chr7 | 45703366 | G | A |
c.2455-10G>A
|
-
|
- | 3.0 |
|
B | |
| 16216 | chr7 | 45703454 | G | A |
c.2533G>A
|
p.Val845Ile
|
3.0 |
|
B |