Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5290 | chr4 | 142260511 | G | C |
c.669C>G
|
p.Asn223Lys
|
- | 3.0 |
|
B | |
| 6213 | chr4 | 142260516 | C | G |
c.664G>C
|
p.Asp222His
|
- | 3.0 |
|
B | |
| 9066 | chr4 | 142260522 | C | T |
c.658G>A
|
p.Gly220Arg
|
3.0 |
|
B | ||
| 9158 | chr4 | 142260554 | A | C |
c.626T>G
|
p.Val209Gly
|
- | 3.0 |
|
B | |
| 16362 | chr4 | 142270652 | T | G |
c.615+11A>C
|
-
|
- | 3.0 |
|
B | |
| 14452 | chr4 | 142270793 | G | A |
c.504-19C>T
|
-
|
3.0 |
|
B | ||
| 22859 | chr4 | 142305501 | C | T |
c.460G>A
|
p.Glu154Lys
|
- | 3.0 |
|
B | |
| 30894 | chr4 | 142305547 | A | C |
c.424-10T>G
|
-
|
- | 3.0 |
|
B | |
| 11083 | chr4 | 142403073 | A | G |
c.256-19T>C
|
-
|
- | 3.0 |
|
B | |
| 17825 | chr4 | 142405319 | T | A |
c.142A>T
|
p.Lys48Ter
|
- | 3.5 |
|
B | |
| 8832 | chr4 | 142431196 | TG | T |
c.63del
|
p.Asn22MetfsTer38
|
- | 3.5 |
|
B | |
| 2306 | chr4 | 142431205 | C | A |
c.55G>T
|
p.Ala19Ser
|
- | 3.0 |
|
B | |
| 4659 | chr4 | 151122143 | C | T |
c.3092G>A
|
p.Gly1031Glu
|
3.0 |
|
B | ||
| 6748 | chr4 | 152322898 | C | T |
c.2107G>A
|
p.Asp703Asn
|
- | 3.5 |
|
B | |
| 31895 | chr4 | 152322946 | C | A |
c.2059G>T
|
p.Gly687Trp
|
- | 3.0 |
|
B | |
| 205 | chr4 | 152323033 | G | A |
c.1972C>T
|
p.Arg658Ter
|
- | 5.0 |
|
A | |
| 8559 | chr4 | 152323062 | A | C |
c.1943T>G
|
p.Leu648Arg
|
- | 3.0 |
|
B | |
| 14775 | chr4 | 152323122 | G | A |
c.1883C>T
|
p.Thr628Ile
|
- | 3.0 |
|
B | |
| 33454 | chr4 | 152323154 | AC | A |
c.1856-6del
|
-
|
- | 3.0 |
|
B | |
| 9367 | chr4 | 152324227 | T | G |
c.1812A>C
|
p.Lys604Asn
|
- | 3.0 |
|
B |