Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22329 | chr7 | 55154159 | C | T |
c.889+7C>T
|
-
|
- | 3.0 |
|
B | |
| 2819 | chr7 | 55155850 | C | T |
c.910C>T
|
p.His304Tyr
|
- | 3.5 |
|
B | |
| 10657 | chr7 | 55155857 | C | T |
c.917C>T
|
p.Ser306Leu
|
3.0 |
|
B | ||
| 23052 | chr7 | 55155862 | G | A |
c.922G>A
|
p.Val308Ile
|
3.0 |
|
B | ||
| 2124 | chr7 | 55155874 | G | T |
c.934G>T
|
p.Gly312Trp
|
- | 3.0 |
|
B | |
| 8176 | chr7 | 55155894 | G | A |
c.954G>A
|
p.Met318Ile
|
- | 3.0 |
|
B | |
| 27751 | chr7 | 55155956 | C | T |
c.1006+10C>T
|
-
|
- | 3.0 |
|
B | |
| 13563 | chr7 | 55156542 | G | A |
c.1016G>A
|
p.Gly339Glu
|
- | 3.0 |
|
B | |
| 18302 | chr7 | 55156571 | C | T |
c.1045C>T
|
p.Leu349Phe
|
- | 3.0 |
|
B | |
| 28341 | chr7 | 55156613 | A | G |
c.1087A>G
|
p.Thr363Ala
|
- | 3.0 |
|
B | |
| 20710 | chr7 | 55156815 | C | T |
c.1190C>T
|
p.Thr397Ile
|
- | 3.0 |
|
B | |
| 25764 | chr7 | 55157717 | A | T |
c.1262A>T
|
p.Glu421Val
|
- | 3.0 |
|
B | |
| 1188 | chr7 | 55160186 | G | T |
c.1346G>T
|
p.Gly449Val
|
- | 3.0 |
|
B | |
| 4263 | chr7 | 55160231 | C | T |
c.1391C>T
|
p.Ser464Leu
|
- | 3.0 |
|
B | |
| 1536 | chr7 | 55160237 | A | T |
c.1397A>T
|
p.Asn466Ile
|
- | 3.0 |
|
B | |
| 2931 | chr7 | 55160271 | G | GA |
c.1437dup
|
p.Leu480ThrfsTer17
|
- | 3.0 |
|
B | |
| 14330 | chr7 | 55160293 | G | A |
c.1453G>A
|
p.Gly485Ser
|
2.5 |
|
B | ||
| 1752 | chr7 | 55161562 | G | A |
c.1562G>A
|
p.Arg521Lys
|
1.0 |
|
B | ||
| 26552 | chr7 | 55161606 | G | A |
c.1606G>A
|
p.Val536Met
|
3.0 |
|
B | ||
| 14331 | chr7 | 55161640 | T | G |
c.1631+9T>G
|
-
|
3.0 |
|
B |