Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27095 | chr4 | 125317650 | A | T |
c.1239A>T
|
p.Lys413Asn
|
- | 3.0 |
|
B | |
| 21185 | chr4 | 125317695 | C | T |
c.1284C>T
|
p.Arg428=
|
3.0 |
|
B | ||
| 34764 | chr4 | 125317735 | G | T |
c.1324G>T
|
p.Asp442Tyr
|
- | 3.0 |
|
B | |
| 31540 | chr4 | 125317859 | A | C |
c.1448A>C
|
p.Asn483Thr
|
- | 3.0 |
|
B | |
| 32456 | chr4 | 125317867 | G | A |
c.1456G>A
|
p.Glu486Lys
|
3.0 |
|
B | ||
| 24573 | chr4 | 125317883 | G | T |
c.1472G>T
|
p.Gly491Val
|
- | 3.0 |
|
B | |
| 31354 | chr4 | 125317888 | T | A |
c.1477T>A
|
p.Tyr493Asn
|
- | 3.0 |
|
B | |
| 32013 | chr4 | 125317960 | G | T |
c.1549G>T
|
p.Gly517Cys
|
- | 3.0 |
|
B | |
| 18227 | chr4 | 125318031 | G | A |
c.1620G>A
|
p.Leu540=
|
- | 3.0 |
|
B | |
| 23043 | chr4 | 125318163 | G | A |
c.1752G>A
|
p.Gln584=
|
- | 2.5 |
|
B | |
| 32896 | chr4 | 125319650 | T | A |
c.3239T>A
|
p.Leu1080His
|
- | 3.0 |
|
B | |
| 35210 | chr4 | 125319703 | C | T |
c.3292C>T
|
p.Pro1098Ser
|
3.0 |
|
B | ||
| 33722 | chr4 | 125319704 | C | T |
c.3293C>T
|
p.Pro1098Leu
|
3.0 |
|
B | ||
| 32797 | chr4 | 125319761 | C | T |
c.3350C>T
|
p.Ser1117Leu
|
3.0 |
|
B | ||
| 34765 | chr4 | 125319774 | A | C |
c.3363A>C
|
p.Lys1121Asn
|
- | 3.0 |
|
B | |
| 12449 | chr4 | 125319792 | A | C |
c.3381A>C
|
p.Lys1127Asn
|
- | 3.0 |
|
B | |
| 35163 | chr4 | 125320034 | C | T |
c.3623C>T
|
p.Pro1208Leu
|
3.0 |
|
B | ||
| 29584 | chr4 | 125320115 | C | T |
c.3704C>T
|
p.Ser1235Leu
|
3.0 |
|
B | ||
| 14594 | chr4 | 125320306 | T | A |
c.3895T>A
|
p.Cys1299Ser
|
- | 3.0 |
|
B | |
| 19989 | chr4 | 125320469 | G | C |
c.4058G>C
|
p.Ser1353Thr
|
- | 3.0 |
|
B |