Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5327 | chr3 | 52589229 | C | T |
c.2851G>A
|
p.Gly951Ser
|
3.0 |
|
B | ||
| 27217 | chr3 | 52589256 | C | T |
c.2825-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 24388 | chr3 | 52603554 | C | A |
c.2791G>T
|
p.Glu931Ter
|
- | 4.0 |
|
B | |
| 6553 | chr3 | 52603581 | TTCTC | T |
c.2760_2763del
|
p.Glu923AsnfsTer6
|
- | 4.0 |
|
B | |
| 31087 | chr3 | 52603690 | C | G |
c.2655G>C
|
p.Gln885His
|
- | 3.0 |
|
B | |
| 17739 | chr3 | 52609441 | G | C |
c.2484C>G
|
p.Asn828Lys
|
- | 3.0 |
|
B | |
| 7496 | chr3 | 52609527 | G | A |
c.2398C>T
|
p.Leu800Phe
|
- | 3.0 |
|
B | |
| 31259 | chr3 | 52609590 | C | G |
c.2335G>C
|
p.Glu779Gln
|
- | 3.0 |
|
B | |
| 33439 | chr3 | 52609661 | T | C |
c.2264A>G
|
p.Glu755Gly
|
- | 3.0 |
|
B | |
| 179 | chr3 | 52609752 | G | A |
c.2173C>T
|
p.Arg725Ter
|
- | 5.0 |
|
B | |
| 31839 | chr3 | 52609755 | T | A |
c.2170A>T
|
p.Ile724Phe
|
3.0 |
|
B | ||
| 32656 | chr3 | 52609790 | TAG | T |
c.2133_2134del
|
p.Tyr711Ter
|
- | 4.0 |
|
B | |
| 35209 | chr3 | 52615332 | A | G |
c.1969+19T>C
|
-
|
3.0 |
|
B | ||
| 13818 | chr3 | 52617273 | C | A |
c.1852G>T
|
p.Glu618Ter
|
- | 4.0 |
|
B | |
| 5357 | chr3 | 52617296 | C | T |
c.1829G>A
|
p.Arg610Gln
|
3.0 |
|
B | ||
| 11138 | chr3 | 52617398 | AT | A |
c.1726del
|
p.Ile576SerfsTer8
|
- | 4.0 |
|
B | |
| 6365 | chr3 | 52617480 | G | A |
c.1645C>T
|
p.Arg549Ter
|
- | 4.0 |
|
B | |
| 8955 | chr3 | 52617531 | T | TC |
c.1593dup
|
p.Asn532GlufsTer16
|
- | 4.0 |
|
B | |
| 1495 | chr3 | 52627325 | C | G |
c.1489G>C
|
p.Asp497His
|
- | 3.0 |
|
B | |
| 1496 | chr3 | 52627340 | C | T |
c.1474G>A
|
p.Asp492Asn
|
3.0 |
|
B |