Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21313 | chr7 | 98949718 | T | G |
c.5012T>G
|
p.Val1671Gly
|
3.0 |
|
B | ||
| 10130 | chr7 | 98949782 | G | T |
c.5076G>T
|
p.Met1692Ile
|
- | 3.0 |
|
B | |
| 18449 | chr7 | 98950906 | T | G |
c.5365T>G
|
p.Leu1789Val
|
- | 3.0 |
|
B | |
| 30401 | chr7 | 98953285 | G | A |
c.5582G>A
|
p.Arg1861His
|
3.0 |
|
B | ||
| 24827 | chr7 | 98953347 | G | A |
c.5644G>A
|
p.Val1882Met
|
3.0 |
|
B | ||
| 34597 | chr7 | 98955151 | ACAGGCGATGGCCATTCTGACCCCGGCGGTGCCGGCCAGG | A |
c.5785_5823del
|
p.Gln1929_Arg1941del
|
- | 3.0 |
|
B | |
| 17521 | chr7 | 98955200 | G | A |
c.5833G>A
|
p.Gly1945Arg
|
- | 3.0 |
|
B | |
| 11100 | chr7 | 98957978 | CAGGTCTTTGGGAGGAGCCAGTCGCTACCTGG | C |
c.6232_6262del
|
p.Val2078GlnfsTer18
|
- | 3.0 |
|
B | |
| 21119 | chr7 | 98959407 | C | A |
c.6406C>A
|
p.Leu2136Ile
|
- | 3.0 |
|
B | |
| 34475 | chr7 | 98959410 | C | G |
c.6409C>G
|
p.Leu2137Val
|
- | 3.0 |
|
B | |
| 13278 | chr7 | 98959457 | G | T |
c.6456G>T
|
p.Lys2152Asn
|
- | 3.0 |
|
B | |
| 5546 | chr7 | 98961379 | G | T |
c.6608G>T
|
p.Gly2203Val
|
- | 3.0 |
|
B | |
| 30737 | chr7 | 98961489 | C | T |
c.6703+15C>T
|
-
|
3.0 |
|
B | ||
| 11175 | chr7 | 98962427 | G | A |
c.6829G>A
|
p.Gly2277Arg
|
3.0 |
|
B | ||
| 12942 | chr7 | 98964647 | A | G |
c.6848A>G
|
p.Lys2283Arg
|
- | 3.0 |
|
B | |
| 4335 | chr7 | 98965700 | AAGCGAGCTG | A |
c.6982_6990del
|
p.Ser2328_Leu2330del
|
- | 3.0 |
|
B | |
| 21390 | chr7 | 98965908 | G | C |
c.7176+13G>C
|
-
|
- | 3.0 |
|
B | |
| 5595 | chr7 | 98967057 | A | G |
c.7193A>G
|
p.Glu2398Gly
|
- | 3.0 |
|
B | |
| 30258 | chr7 | 98967140 | G | C |
c.7276G>C
|
p.Asp2426His
|
- | 3.0 |
|
B | |
| 35525 | chr7 | 98967469 | T | C |
c.7299-16T>C
|
-
|
- | 3.0 |
|
B |