Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35403 | chr4 | 56990825 | G | T |
c.170G>T
|
p.Arg57Ile
|
- | 3.0 |
|
B | |
| 35404 | chr4 | 56995268 | G | T |
c.594G>T
|
p.Glu198Asp
|
- | 3.0 |
|
B | |
| 35405 | chr4 | 56999747 | T | G |
c.866T>G
|
p.Ile289Ser
|
- | 3.0 |
|
B | |
| 35406 | chr4 | 57017034 | C | A |
c.1956-9C>A
|
-
|
- | 3.0 |
|
B | |
| 16937 | chr4 | 65324117 | C | A |
c.3048G>T
|
p.Leu1016Phe
|
3.0 |
|
B | ||
| 16237 | chr4 | 65324174 | C | A |
c.2991G>T
|
p.Lys997Asn
|
- | 3.0 |
|
B | |
| 12559 | chr4 | 65324200 | C | T |
c.2965G>A
|
p.Val989Met
|
- | 3.0 |
|
B | |
| 14520 | chr4 | 65324209 | G | A |
c.2956C>T
|
p.Arg986Trp
|
3.0 |
|
B | ||
| 5925 | chr4 | 65332048 | T | G |
c.2870A>C
|
p.Lys957Thr
|
- | 3.0 |
|
B | |
| 11071 | chr4 | 65332056 | C | A |
c.2862G>T
|
p.Glu954Asp
|
- | 3.0 |
|
B | |
| 29620 | chr4 | 65332131 | A | G |
c.2790-3T>C
|
-
|
- | 3.0 |
|
B | |
| 10656 | chr4 | 65336005 | C | T |
c.2716G>A
|
p.Glu906Lys
|
- | 3.0 |
|
B | |
| 33132 | chr4 | 65336038 | G | A |
c.2683C>T
|
p.Gln895Ter
|
- | 3.0 |
|
B | |
| 738 | chr4 | 65348151 | T | C |
c.2498A>G
|
p.Lys833Arg
|
- | 3.0 |
|
B | |
| 8715 | chr4 | 65348180 | C | A |
c.2469G>T
|
p.Trp823Cys
|
3.0 |
|
B | ||
| 6029 | chr4 | 65348190 | G | A |
c.2459C>T
|
p.Pro820Leu
|
- | 3.0 |
|
B | |
| 2490 | chr4 | 65348202 | C | A |
c.2447G>T
|
p.Gly816Val
|
- | 3.0 |
|
B | |
| 4166 | chr4 | 65351381 | G | C |
c.2445+8C>G
|
-
|
- | 3.0 |
|
B | |
| 7556 | chr4 | 65351430 | G | A |
c.2404C>T
|
p.Arg802Trp
|
3.0 |
|
B | ||
| 7532 | chr4 | 65351432 | G | A |
c.2402C>T
|
p.Ser801Phe
|
3.0 |
|
B |