Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15231 | chr9 | 133110450 | T | A |
c.334A>T
|
p.Lys112Ter
|
- | 3.0 |
|
B | |
| 16771 | chr9 | 133129141 | C | T |
c.178G>A
|
p.Glu60Lys
|
3.0 |
|
B | ||
| 4840 | chr9 | 133356671 | G | T |
-
-
c.78+1G>T
|
-
-
p.?
|
3.0 |
|
B | ||
| 31471 | chr9 | 133407794 | A | G |
-
c.1149+13T>C
|
-
-
|
- | 3.0 |
|
B | |
| 3411 | chr9 | 133414715 | G | A |
c.522C>T
|
p.Ile174=
|
3.0 |
|
B | ||
| 30618 | chr9 | 134033713 | G | A |
c.2066-8C>T
-
|
-
-
|
3.0 |
|
B | ||
| 14208 | chr9 | 134040014 | C | A |
c.1643+20G>T
|
-
|
- | 3.0 |
|
B | |
| 13428 | chr9 | 134040067 | G | A |
c.1610C>T
|
p.Ala537Val
|
3.0 |
|
B | ||
| 29470 | chr9 | 134040229 | G | A |
c.1448C>T
|
p.Ala483Val
|
- | 3.0 |
|
B | |
| 19319 | chr9 | 134041746 | A | G |
c.1407+14T>C
|
-
|
- | 3.0 |
|
B | |
| 25111 | chr9 | 134048073 | G | A |
c.1086+10C>T
|
-
|
3.0 |
|
B | ||
| 18916 | chr9 | 134048322 | C | A |
c.847G>T
|
p.Gly283Cys
|
- | 3.0 |
|
B | |
| 24759 | chr9 | 134050356 | C | T |
c.714+18G>A
|
-
|
3.0 |
|
B | ||
| 18898 | chr9 | 134050387 | G | A |
c.701C>T
|
p.Pro234Leu
|
3.0 |
|
B | ||
| 24334 | chr9 | 134050402 | A | C |
c.686T>G
|
p.Val229Gly
|
- | 3.0 |
|
B | |
| 18316 | chr9 | 134053288 | C | T |
c.190G>A
|
p.Asp64Asn
|
- | 3.0 |
|
B | |
| 8515 | chr9 | 134436505 | C | T |
c.1280C>T
|
p.Ser427Phe
|
3.5 |
|
B | ||
| 3515 | chr9 | 134812624 | GC | G |
c.3769del
|
p.Arg1257GlufsTer19
|
- | 3.0 |
|
B | |
| 6974 | chr9 | 136496196 | CAG | C |
c.7541_7542del
|
p.Pro2514ArgfsTer4
|
4.5 |
|
B | ||
| 452 | chr9 | 136496203 | CG | C |
c.7535del
|
p.Pro2512ArgfsTer77
|
- | 4.57 |
|
S |