Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5481 | chr8 | 38414790 | T | C |
c.1966A>G
|
p.Lys656Glu
|
4.5 |
|
B | ||
| 11103 | chr8 | 38414840 | A | T |
c.1916T>A
|
p.Ile639Lys
|
- | 3.0 |
|
B | |
| 27416 | chr8 | 38414871 | C | T |
c.1885G>A
|
p.Val629Ile
|
- | 3.0 |
|
B | |
| 26092 | chr8 | 38414919 | G | A |
c.1855-18C>T
|
-
|
3.0 |
|
B | ||
| 15028 | chr8 | 38416043 | C | T |
c.1681G>A
|
p.Val561Met
|
- | 3.5 |
|
B | |
| 20747 | chr8 | 38417309 | C | T |
c.1660G>A
|
p.Asp554Asn
|
3.0 |
|
B | ||
| 14305 | chr8 | 38417331 | G | C |
c.1638C>G
|
p.Asn546Lys
|
- | 4.5 |
|
B | |
| 23634 | chr8 | 38417331 | G | T |
c.1638C>A
|
p.Asn546Lys
|
4.5 |
|
B | ||
| 28724 | chr8 | 38417436 | A | G |
c.1553-20T>C
|
-
|
- | 3.0 |
|
B | |
| 22888 | chr8 | 38419592 | G | A |
c.1225C>T
|
p.His409Tyr
|
- | 3.0 |
|
B | |
| 27349 | chr8 | 38419727 | C | G |
c.1090G>C
|
p.Glu364Gln
|
- | 3.0 |
|
B | |
| 32269 | chr8 | 38419754 | G | T |
c.1082-19C>A
|
-
|
- | 3.0 |
|
B | |
| 10201 | chr8 | 38421850 | G | T |
c.1028C>A
|
p.Ala343Glu
|
- | 3.0 |
|
B | |
| 22652 | chr8 | 38424503 | G | A |
c.936+6C>T
|
-
|
3.0 |
|
B | ||
| 34122 | chr8 | 38424685 | G | A |
c.760C>T
|
p.Arg254Trp
|
- | 4.0 |
|
B | |
| 4993 | chr8 | 38424693 | G | A |
c.752C>T
|
p.Ser251Phe
|
3.0 |
|
B | ||
| 23784 | chr8 | 38424705 | G | A |
c.746-6C>T
|
-
|
3.0 |
|
B | ||
| 33926 | chr8 | 38426238 | T | A |
c.629A>T
|
p.Tyr210Phe
|
- | 3.0 |
|
B | |
| 33649 | chr8 | 38426243 | G | A |
c.624C>T
|
p.Val208=
|
- | 3.0 |
|
B | |
| 10158 | chr8 | 38426249 | A | C |
c.622-4T>G
|
-
|
- | 3.0 |
|
B |