Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2489 | chr3 | 138946371 | C | T |
c.352G>A
-
|
p.Glu118Lys
-
|
3.0 |
|
B | ||
| 2410 | chr3 | 138946450 | G | T |
c.273C>A
-
|
p.Tyr91Ter
-
|
- | 3.5 |
|
B | |
| 6944 | chr3 | 138946467 | C | A |
c.256G>T
-
|
p.Ala86Ser
-
|
- | 3.0 |
|
B | |
| 34008 | chr3 | 138946484 | A | G |
c.239T>C
-
|
p.Ile80Thr
-
|
- | 3.0 |
|
B | |
| 21300 | chr3 | 138946487 | C | A |
c.236G>T
-
|
p.Gly79Val
-
|
- | 3.0 |
|
B | |
| 30982 | chr3 | 138946550 | G | T |
c.173C>A
-
|
p.Ser58Ter
-
|
3.5 |
|
B | ||
| 13748 | chr3 | 138946576 | C | T |
c.147G>A
-
|
p.Pro49=
-
|
- | 3.0 |
|
B | |
| 25683 | chr3 | 138946633 | C | G |
c.90G>C
-
|
p.Pro30=
-
|
- | 3.0 |
|
B | |
| 35257 | chr3 | 138946640 | T | G |
c.83A>C
-
|
p.Glu28Ala
-
|
- | 3.0 |
|
B | |
| 11325 | chr3 | 138946678 | C | A |
c.45G>T
-
|
p.Leu15=
-
|
3.0 |
|
B | ||
| 25878 | chr3 | 138946685 | C | G |
c.38G>C
-
|
p.Gly13Ala
-
|
- | 3.0 |
|
B | |
| 3625 | chr3 | 139005537 | A | AGT |
c.731_732insAC
|
p.Pro245LeufsTer88
|
3.0 |
|
B | ||
| 3626 | chr3 | 139005542 | GAC | G |
c.725_726del
|
p.Ser242ThrfsTer47
|
3.0 |
|
B | ||
| 11210 | chr3 | 139006123 | G | A |
c.146C>T
|
p.Ala49Val
|
3.0 |
|
B | ||
| 3627 | chr3 | 139019933 | A | AGT |
c.728_729insAC
|
p.Pro244LeufsTer77
|
- | 3.0 |
|
B | |
| 30593 | chr3 | 141516329 | C | T |
c.253C>T
|
p.Pro85Ser
|
- | 3.0 |
|
B | |
| 25566 | chr3 | 141571061 | ATGT | A |
c.1015_1017del
|
p.Val339del
|
- | 3.0 |
|
B | |
| 31717 | chr3 | 141577047 | C | T |
c.1531C>T
|
p.Arg511Cys
|
3.0 |
|
B | ||
| 22064 | chr3 | 141577116 | C | T |
c.1590+10C>T
|
-
|
- | 3.0 |
|
B | |
| 13880 | chr3 | 141580367 | G | C |
c.1591-1G>C
|
p.?
|
- | 3.0 |
|
B |