Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28700 | chr7 | 128850471 | G | A |
c.5386G>A
|
p.Gly1796Arg
|
- | 3.0 |
|
B | |
| 30486 | chr7 | 128850824 | G | A |
c.5420G>A
|
p.Gly1807Glu
|
3.0 |
|
B | ||
| 15629 | chr7 | 128850943 | G | C |
c.5539G>C
|
p.Gly1847Arg
|
- | 3.0 |
|
B | |
| 33984 | chr7 | 128851291 | C | G |
c.5599C>G
|
p.Pro1867Ala
|
- | 3.0 |
|
B | |
| 24613 | chr7 | 128851486 | CA | C |
c.5702del
|
p.Lys1901ArgfsTer52
|
- | 3.0 |
|
B | |
| 14201 | chr7 | 128851557 | G | A |
c.5771G>A
|
p.Gly1924Glu
|
- | 3.0 |
|
B | |
| 12514 | chr7 | 128851607 | C | T |
c.5821C>T
|
p.Pro1941Ser
|
- | 3.0 |
|
B | |
| 23486 | chr7 | 128852738 | C | A |
c.5990C>A
|
p.Pro1997His
|
- | 3.0 |
|
B | |
| 26708 | chr7 | 128852763 | G | A |
c.6004+11G>A
|
-
|
1.5 |
|
B | ||
| 14332 | chr7 | 128853044 | C | T |
c.6208+13C>T
|
-
|
2.5 |
|
B | ||
| 29291 | chr7 | 128853486 | C | A |
c.6226C>A
|
p.Leu2076Met
|
- | 3.0 |
|
B | |
| 19492 | chr7 | 128853958 | T | C |
c.6485-16T>C
|
-
|
- | 3.0 |
|
B | |
| 32029 | chr7 | 128854514 | C | A |
c.6829C>A
|
p.Arg2277Ser
|
3.0 |
|
B | ||
| 18304 | chr7 | 128854605 | G | A |
c.6920G>A
|
p.Gly2307Glu
|
- | 3.0 |
|
B | |
| 9821 | chr7 | 128854620 | G | A |
c.6935G>A
|
p.Gly2312Asp
|
- | 3.0 |
|
B | |
| 33813 | chr7 | 128854638 | G | A |
c.6953G>A
|
p.Arg2318Gln
|
2.5 |
|
B | ||
| 27254 | chr7 | 128854664 | G | A |
c.6979G>A
|
p.Gly2327Ser
|
- | 3.0 |
|
B | |
| 34173 | chr7 | 128854873 | G | A |
c.7096G>A
|
p.Asp2366Asn
|
- | 3.0 |
|
B | |
| 31642 | chr7 | 128855312 | C | G |
c.7249C>G
|
p.Gln2417Glu
|
- | 3.0 |
|
B | |
| 23866 | chr7 | 128856661 | C | A |
c.7384+11C>A
|
-
|
- | 3.0 |
|
B |