Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26258 | chr19 | 40394597 | GC | G |
c.3754del
-
|
p.Ala1252ProfsTer130
-
|
- | 3.0 |
|
B | |
| 17037 | chr19 | 40394633 | T | C |
c.3719A>G
-
|
p.Glu1240Gly
-
|
- | 3.0 |
|
B | |
| 2843 | chr19 | 40394654 | G | A |
c.3698C>T
-
|
p.Ala1233Val
-
|
3.0 |
|
B | ||
| 33171 | chr19 | 40395030 | C | T |
c.3322G>A
-
|
p.Glu1108Lys
-
|
3.0 |
|
B | ||
| 27603 | chr19 | 40395066 | T | A |
c.3286A>T
-
|
p.Ile1096Phe
-
|
- | 3.0 |
|
B | |
| 17998 | chr19 | 40395081 | C | T |
c.3271G>A
-
|
p.Ala1091Thr
-
|
3.0 |
|
B | ||
| 18342 | chr19 | 40395444 | G | A |
c.2908C>T
|
p.Arg970Trp
|
3.0 |
|
B | ||
| 23298 | chr19 | 40395460 | G | C |
c.2892C>G
|
p.Ile964Met
|
3.0 |
|
B | ||
| 4018 | chr19 | 40395624 | C | T |
c.2728G>A
|
p.Ala910Thr
|
2.5 |
|
B | ||
| 7231 | chr19 | 40395648 | C | T |
c.2704G>A
|
p.Glu902Lys
|
3.0 |
|
B | ||
| 16346 | chr19 | 40395699 | G | A |
c.2653C>T
|
p.Pro885Ser
|
- | 3.0 |
|
B | |
| 24077 | chr19 | 40395711 | G | A |
c.2641C>T
|
p.Arg881Trp
|
3.0 |
|
B | ||
| 13029 | chr19 | 40395834 | C | T |
c.2518G>A
|
p.Glu840Lys
|
- | 3.0 |
|
B | |
| 5550 | chr19 | 40395884 | G | A |
c.2468C>T
|
p.Ala823Val
|
3.0 |
|
B | ||
| 10121 | chr19 | 40396056 | C | T |
c.2296G>A
|
p.Val766Met
|
3.0 |
|
B | ||
| 7680 | chr19 | 40396083 | C | T |
c.2269G>A
|
p.Glu757Lys
|
- | 3.0 |
|
B | |
| 9255 | chr19 | 40396096 | C | G |
c.2256G>C
|
p.Glu752Asp
|
3.0 |
|
B | ||
| 7232 | chr19 | 40396174 | C | A |
c.2178G>T
|
p.Glu726Asp
|
- | 3.0 |
|
B | |
| 18188 | chr19 | 40396182 | G | A |
c.2170C>T
|
p.Leu724Phe
|
- | 3.0 |
|
B | |
| 31613 | chr19 | 40396232 | G | C |
c.2120C>G
|
p.Pro707Arg
|
3.0 |
|
B |