Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2495 | chr7 | 124853139 | C | A |
c.703-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 13146 | chr7 | 124858956 | C | A |
c.702+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 14930 | chr7 | 124859030 | A | G |
c.629T>C
|
p.Ile210Thr
|
- | 3.0 |
|
B | |
| 2255 | chr7 | 124859054 | AC | A |
c.604del
|
p.Val202PhefsTer6
|
- | 4.0 |
|
B | |
| 14106 | chr7 | 124863369 | C | G |
c.527G>C
|
p.Gly176Ala
|
- | 3.0 |
|
B | |
| 8934 | chr7 | 124863409 | C | A |
c.487G>T
|
p.Asp163Tyr
|
- | 3.0 |
|
B | |
| 34131 | chr7 | 124863546 | C | T |
c.350G>A
|
p.Arg117His
|
3.0 |
|
B | ||
| 25530 | chr7 | 124863641 | C | G |
c.256-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 34206 | chr7 | 124892247 | C | A |
c.124+19G>T
|
-
|
- | 3.0 |
|
B | |
| 26461 | chr7 | 127652389 | C | T |
c.16C>T
|
p.Gln6Ter
|
- | 3.0 |
|
B | |
| 33727 | chr7 | 127698868 | T | C |
c.350-7T>C
|
-
|
- | 3.0 |
|
B | |
| 15089 | chr7 | 127807489 | G | C |
c.1158G>C
|
p.Lys386Asn
|
- | 3.0 |
|
B | |
| 14719 | chr7 | 127807547 | C | T |
c.1216C>T
|
p.Leu406Phe
|
- | 3.0 |
|
B | |
| 35168 | chr7 | 127844308 | G | T |
c.1243-16G>T
|
-
|
- | 3.0 |
|
B | |
| 21899 | chr7 | 128074708 | G | A |
c.1968+18G>A
|
-
|
3.0 |
|
B | ||
| 19248 | chr7 | 128084756 | C | T |
c.2143C>T
|
p.Arg715Cys
|
3.0 |
|
B | ||
| 31481 | chr7 | 128085740 | C | G |
c.2264C>G
|
p.Ser755Cys
|
- | 3.0 |
|
B | |
| 31482 | chr7 | 128086932 | C | T |
c.2305-6C>T
|
-
|
3.0 |
|
B | ||
| 34904 | chr7 | 128087023 | C | T |
c.2390C>T
|
p.Ala797Val
|
- | 3.0 |
|
B | |
| 31483 | chr7 | 128087058 | C | T |
c.2418+7C>T
|
-
|
- | 3.0 |
|
B |