Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25502 | chr7 | 78256403 | T | C |
c.1587A>G
|
p.Ile529Met
|
- | 3.0 |
|
B | |
| 21155 | chr7 | 78256458 | G | A |
c.1532C>T
|
p.Pro511Leu
|
- | 3.0 |
|
B | |
| 14475 | chr7 | 78256462 | A | T |
c.1528T>A
|
p.Tyr510Asn
|
- | 3.0 |
|
B | |
| 10256 | chr7 | 78256501 | G | A |
c.1489C>T
|
p.Pro497Ser
|
- | 3.0 |
|
B | |
| 27615 | chr7 | 78256595 | AGAGATTGACAACATGAGGTAAGTTCAATTAACATTGACATAGAGAAATGGAATTATTTAC | A |
c.1409-74_1409-15del
|
-
|
- | 3.0 |
|
B | |
| 2001 | chr7 | 78343921 | C | G |
c.1265G>C
|
p.Gly422Ala
|
- | 3.0 |
|
B | |
| 34593 | chr7 | 78343928 | A | C |
c.1258T>G
|
p.Leu420Val
|
- | 3.0 |
|
B | |
| 14016 | chr7 | 78343948 | AAG | A |
c.1236_1237del
|
p.Phe413HisfsTer34
|
- | 3.5 |
|
B | |
| 910 | chr7 | 78345961 | C | G |
c.1186G>C
|
p.Glu396Gln
|
- | 3.0 |
|
B | |
| 16596 | chr7 | 78369196 | C | T |
c.1063G>A
|
p.Glu355Lys
|
3.0 |
|
B | ||
| 1984 | chr7 | 78489757 | C | A |
c.1045+4G>T
|
-
|
- | 3.0 |
|
B | |
| 16326 | chr7 | 78489809 | G | A |
c.997C>T
|
p.Pro333Ser
|
- | 3.0 |
|
B | |
| 25251 | chr7 | 78501683 | T | C |
c.859A>G
|
p.Met287Val
|
- | 3.0 |
|
B | |
| 28512 | chr7 | 78501779 | C | T |
c.763G>A
|
p.Glu255Lys
|
- | 3.0 |
|
B | |
| 2045 | chr7 | 78521511 | C | T |
c.673G>A
|
p.Glu225Lys
|
3.0 |
|
B | ||
| 28234 | chr7 | 78521594 | A | G |
c.590T>C
|
p.Leu197Ser
|
- | 3.0 |
|
B | |
| 13300 | chr7 | 78521603 | G | A |
c.581C>T
|
p.Pro194Leu
|
- | 3.0 |
|
B | |
| 22091 | chr7 | 78627117 | T | A |
c.538+3A>T
|
-
|
- | 3.0 |
|
B | |
| 29747 | chr7 | 78627228 | G | C |
c.430C>G
|
p.Pro144Ala
|
- | 3.0 |
|
B | |
| 16150 | chr7 | 79007119 | C | T |
c.389G>A
|
p.Arg130His
|
3.0 |
|
B |