Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15913 | chr4 | 54278412 | T | C |
c.2053T>C
|
p.Tyr685His
|
- | 3.0 |
|
B | |
| 35309 | chr4 | 54278456 | G | T |
c.2097G>T
|
p.Glu699Asp
|
- | 3.0 |
|
B | |
| 27531 | chr4 | 54278526 | A | G |
c.2156+11A>G
|
-
|
- | 3.0 |
|
B | |
| 28689 | chr4 | 54280449 | C | T |
c.2290C>T
|
p.Arg764Cys
|
3.0 |
|
B | ||
| 19055 | chr4 | 54285363 | T | G |
c.2324-8T>G
|
-
|
- | 3.0 |
|
B | |
| 23915 | chr4 | 54285387 | C | A |
c.2340C>A
|
p.Asn780Lys
|
- | 3.0 |
|
B | |
| 5120 | chr4 | 54285471 | T | A |
c.2424T>A
|
p.Phe808Leu
|
- | 3.0 |
|
B | |
| 7005 | chr4 | 54285851 | G | A |
c.2450G>A
|
p.Arg817His
|
3.5 |
|
B | ||
| 9804 | chr4 | 54285946 | T | G |
c.2545T>G
|
p.Tyr849Asp
|
- | 3.0 |
|
B | |
| 24324 | chr4 | 54285947 | A | C |
c.2546A>C
|
p.Tyr849Ser
|
- | 3.0 |
|
B | |
| 11096 | chr4 | 54288907 | C | T |
c.2774+9C>T
|
-
|
- | 2.0 |
|
B | |
| 1516 | chr4 | 54289002 | C | T |
c.2775-7C>T
|
-
|
- | 2.5 |
|
B | |
| 11603 | chr4 | 54290350 | A | G |
c.2918A>G
|
p.Asp973Gly
|
3.0 |
|
B | ||
| 32011 | chr4 | 54290435 | G | T |
c.3003G>T
|
p.Lys1001Asn
|
- | 3.0 |
|
B | |
| 23694 | chr4 | 54295127 | C | T |
c.3125C>T
|
p.Ser1042Leu
|
2.5 |
|
B | ||
| 24325 | chr4 | 54295136 | C | G |
c.3134C>G
|
p.Ser1045Cys
|
- | 3.0 |
|
B | |
| 24326 | chr4 | 54295172 | C | T |
c.3170C>T
|
p.Ser1057Phe
|
- | 3.0 |
|
B | |
| 11973 | chr4 | 54295206 | A | T |
c.3204A>T
|
p.Glu1068Asp
|
3.0 |
|
B | ||
| 14089 | chr4 | 54695520 | C | G |
c.76C>G
|
p.Gln26Glu
|
3.0 |
|
B | ||
| 13539 | chr4 | 54695575 | C | G |
c.131C>G
|
p.Ser44Ter
|
- | 3.0 |
|
B |