Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6561 | chr4 | 1806138 | G | A |
c.1924G>A
|
p.Val642Met
|
3.0 |
|
B | ||
| 29744 | chr4 | 1806162 | A | G |
c.1948A>G
|
p.Lys650Glu
|
4.0 |
|
B | ||
| 3917 | chr4 | 1806596 | C | T |
c.2081C>T
-
|
p.Pro694Leu
-
|
- | 3.0 |
|
B | |
| 18777 | chr4 | 1806679 | G | A |
c.2164G>A
-
|
p.Asp722Asn
-
|
3.0 |
|
B | ||
| 10366 | chr4 | 1807256 | G | A |
c.2415G>A
-
|
p.Arg805=
-
|
- | 3.0 |
|
B | |
| 21028 | chr4 | 1807283 | A | G |
c.*21A>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 25329 | chr4 | 1900919 | G | A |
c.265G>A
|
p.Gly89Arg
|
- | 3.0 |
|
B | |
| 14103 | chr4 | 1900971 | A | T |
c.317A>T
|
p.Lys106Ile
|
- | 3.0 |
|
B | |
| 1828 | chr4 | 1901109 | C | T |
c.455C>T
|
p.Ser152Phe
|
- | 3.0 |
|
B | |
| 13088 | chr4 | 1901136 | C | T |
c.482C>T
|
p.Pro161Leu
|
- | 3.0 |
|
B | |
| 32367 | chr4 | 1904213 | C | T |
c.598-3C>T
|
-
|
3.0 |
|
B | ||
| 15243 | chr4 | 1904260 | A | T |
c.642A>T
|
p.Lys214Asn
|
- | 3.0 |
|
B | |
| 15433 | chr4 | 1904327 | C | T |
c.709C>T
|
p.Pro237Ser
|
- | 3.0 |
|
B | |
| 29133 | chr4 | 1917054 | C | T |
c.927+17C>T
|
-
|
3.0 |
|
B | ||
| 13648 | chr4 | 1918125 | CT | C |
c.928-6del
|
-
|
2.0 |
|
B | ||
| 19431 | chr4 | 1918125 | CTT | C |
c.928-7_928-6del
|
-
|
3.0 |
|
B | ||
| 3046 | chr4 | 1918457 | A | G |
c.1244A>G
|
p.His415Arg
|
- | 3.0 |
|
B | |
| 21671 | chr4 | 1918493 | C | T |
c.1280C>T
|
p.Ala427Val
|
- | 3.0 |
|
B | |
| 22289 | chr4 | 1918525 | C | T |
c.1312C>T
|
p.Pro438Ser
|
- | 3.0 |
|
B | |
| 17262 | chr4 | 1918528 | C | T |
c.1315C>T
|
p.Pro439Ser
|
3.0 |
|
B |