Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9772 | chr1 | 186674472 | A | T |
c.1696T>A
|
p.Phe566Ile
|
- | 3.0 |
|
B | |
| 5497 | chr1 | 186674553 | C | G |
c.1615G>C
|
p.Glu539Gln
|
- | 3.0 |
|
B | |
| 18951 | chr1 | 186674672 | C | T |
c.1496G>A
|
p.Arg499Gln
|
3.0 |
|
B | ||
| 16137 | chr1 | 186674729 | A | C |
c.1439T>G
|
p.Leu480Arg
|
- | 3.0 |
|
B | |
| 13468 | chr1 | 186675338 | T | G |
c.1316A>C
|
p.Asp439Ala
|
- | 3.0 |
|
B | |
| 13467 | chr1 | 186675339 | C | T |
c.1315G>A
|
p.Asp439Asn
|
- | 3.0 |
|
B | |
| 11507 | chr1 | 186675369 | C | T |
c.1285G>A
|
p.Ala429Thr
|
3.0 |
|
B | ||
| 9124 | chr1 | 186676020 | C | A |
c.1135G>T
|
p.Asp379Tyr
|
- | 3.0 |
|
B | |
| 587 | chr1 | 186676123 | T | G |
c.1032A>C
|
p.Lys344Asn
|
- | 3.0 |
|
B | |
| 14516 | chr1 | 186676480 | C | A |
c.957G>T
|
p.Arg319Ser
|
- | 3.0 |
|
B | |
| 21811 | chr1 | 186676707 | C | CAATTATCTAAAAAAATAAATAAATAAATAAACATCAGTTAAAAAGTT |
c.724-41_729dup
|
p.Asp244AsnfsTer15
|
- | 3.0 |
|
B | |
| 28163 | chr1 | 186676719 | A | T |
c.724-6T>A
|
-
|
3.0 |
|
B | ||
| 33435 | chr1 | 186676873 | C | T |
c.683G>A
|
p.Arg228His
|
3.0 |
|
B | ||
| 24468 | chr1 | 186677668 | G | A |
c.620C>T
|
p.Thr207Ile
|
- | 3.0 |
|
B | |
| 498 | chr1 | 186677772 | C | A |
c.516G>T
|
p.Lys172Asn
|
- | 3.0 |
|
B | |
| 22990 | chr1 | 186678235 | ATCTCTAATGGATTCTTCTTACTCACCTTTGACACCCAAGGGAGTCGGGCAATCATCAGGCACAGGAGGAAGGGC | A |
c.409_457+25del
|
p.?
|
- | 3.0 |
|
B | |
| 9825 | chr1 | 186678419 | G | A |
c.314-15C>T
|
-
|
3.0 |
|
B | ||
| 33636 | chr1 | 186679123 | C | T |
c.248G>A
|
p.Gly83Glu
|
3.0 |
|
B | ||
| 33637 | chr1 | 186679124 | C | T |
c.247G>A
|
p.Gly83Arg
|
3.0 |
|
B | ||
| 26503 | chr1 | 186679142 | T | G |
c.229A>C
|
p.Ile77Leu
|
- | 3.0 |
|
B |