Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6044 | chr3 | 179210291 | GAAGATTTGCTGAACCCTATTGGTGTTACTGGATCAA | G |
c.1359_1394del
|
p.Glu453_Asn465delinsAsp
|
- | 3.5 |
|
B | |
| 11612 | chr3 | 179210437 | C | G |
c.1411C>G
|
p.Pro471Ala
|
- | 3.0 |
|
B | |
| 27110 | chr3 | 179210447 | AGT | A |
c.1422_1423del
|
p.Glu474AspfsTer4
|
- | 3.0 |
|
B | |
| 27247 | chr3 | 179210522 | C | T |
c.1496C>T
|
p.Ser499Phe
|
3.0 |
|
B | ||
| 34814 | chr3 | 179218194 | T | C |
c.1540-16T>C
|
-
|
3.0 |
|
B | ||
| 186 | chr3 | 179218294 | G | A |
c.1624G>A
|
p.Glu542Lys
|
4.0 |
|
A | ||
| 31813 | chr3 | 179218294 | G | C |
c.1624G>C
|
p.Glu542Gln
|
4.0 |
|
B | ||
| 8460 | chr3 | 179218295 | A | C |
c.1625A>C
|
p.Glu542Ala
|
4.0 |
|
B | ||
| 187 | chr3 | 179218303 | G | A |
c.1633G>A
|
p.Glu545Lys
|
4.67 |
|
A | ||
| 12013 | chr3 | 179218303 | G | C |
c.1633G>C
|
p.Glu545Gln
|
4.0 |
|
B | ||
| 43 | chr3 | 179218304 | A | C |
c.1634A>C
|
p.Glu545Ala
|
4.75 |
|
S | ||
| 188 | chr3 | 179218304 | A | G |
c.1634A>G
|
p.Glu545Gly
|
4.67 |
|
A | ||
| 14 | chr3 | 179218306 | C | A |
c.1636C>A
|
p.Gln546Lys
|
4.0 |
|
A | ||
| 2187 | chr3 | 179218306 | C | G |
c.1636C>G
|
p.Gln546Glu
|
3.5 |
|
B | ||
| 3791 | chr3 | 179218307 | A | C |
c.1637A>C
|
p.Gln546Pro
|
4.0 |
|
B | ||
| 189 | chr3 | 179218307 | A | G |
c.1637A>G
|
p.Gln546Arg
|
4.67 |
|
A | ||
| 3105 | chr3 | 179219212 | A | G |
c.1681A>G
|
p.Ile561Val
|
- | 3.0 |
|
B | |
| 26186 | chr3 | 179219231 | A | C |
c.1700A>C
|
p.Lys567Thr
|
- | 3.5 |
|
B | |
| 25027 | chr3 | 179219622 | G | A |
c.1798G>A
|
p.Glu600Lys
|
- | 4.0 |
|
B | |
| 27220 | chr3 | 179219658 | C | T |
c.1834C>T
|
p.Arg612Ter
|
- | 3.0 |
|
B |