Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7263 | chr7 | 148783840 | G | GA |
c.1141_1142insA
|
p.Val381AspfsTer8
|
- | 3.0 |
|
B | |
| 7264 | chr7 | 148783841 | T | A |
c.1142T>A
|
p.Val381Glu
|
- | 3.0 |
|
B | |
| 1449 | chr7 | 148787089 | A | G |
c.1448A>G
|
p.Asp483Gly
|
3.0 |
|
B | ||
| 35651 | chr7 | 148787123 | G | T |
c.1479+3G>T
|
-
|
- | 3.0 |
|
B | |
| 7113 | chr7 | 148788514 | TTTTTGTACAAATTAATAAGACAGTCATCTGGGTTCTTCTCA | T |
c.1480-42_1480-2del
|
p.?
|
- | 3.0 |
|
B | |
| 29442 | chr7 | 148788543 | T | A |
c.1480-14T>A
|
-
|
- | 3.0 |
|
B | |
| 7043 | chr7 | 148788614 | G | A |
c.1537G>A
|
p.Val513Met
|
- | 3.0 |
|
B | |
| 11641 | chr7 | 148789779 | G | T |
c.1627G>T
|
p.Gly543Trp
|
- | 3.0 |
|
B | |
| 27149 | chr7 | 148789789 | C | T |
c.1637C>T
|
p.Pro546Leu
|
- | 3.0 |
|
B | |
| 6201 | chr7 | 148790303 | T | TC |
c.1675-7_1675-6insC
|
-
|
- | 3.0 |
|
B | |
| 9076 | chr7 | 148790313 | G | A |
c.1678G>A
|
p.Glu560Lys
|
- | 3.0 |
|
B | |
| 9668 | chr7 | 148792799 | A | G |
c.1880A>G
|
p.Asp627Gly
|
- | 3.0 |
|
B | |
| 12524 | chr7 | 148792827 | A | C |
c.1899+9A>C
|
-
|
- | 3.0 |
|
B | |
| 24957 | chr7 | 148797943 | G | C |
c.1954G>C
|
p.Glu652Gln
|
3.0 |
|
B | ||
| 15744 | chr7 | 148799293 | A | G |
c.2155A>G
|
p.Met719Val
|
- | 3.0 |
|
B | |
| 21395 | chr7 | 148807713 | C | A |
c.2196-7G>T
|
-
|
- | 3.0 |
|
B | |
| 18913 | chr7 | 148807715 | A | G |
c.2196-9T>C
|
-
|
- | 3.0 |
|
B | |
| 18914 | chr7 | 148807717 | A | T |
c.2196-11T>A
|
-
|
- | 3.0 |
|
B | |
| 70 | chr7 | 148809074 | T | A |
c.2192A>T
|
p.Tyr731Phe
|
3.0 |
|
B | ||
| 71 | chr7 | 148809075 | A | G |
c.2191T>C
|
p.Tyr731His
|
4.0 |
|
B |