Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9094 | chr8 | 47807198 | G | C |
c.9686C>G
|
p.Ser3229Cys
|
- | 3.0 |
|
B | |
| 9960 | chr8 | 47807229 | C | T |
c.9655G>A
|
p.Glu3219Lys
|
- | 3.0 |
|
B | |
| 20063 | chr8 | 47807243 | G | T |
c.9641C>A
|
p.Pro3214His
|
- | 3.0 |
|
B | |
| 20541 | chr8 | 47807251 | A | C |
c.9633T>G
|
p.Asp3211Glu
|
- | 3.0 |
|
B | |
| 31909 | chr8 | 47807335 | A | C |
c.9558-9T>G
|
-
|
- | 3.0 |
|
B | |
| 17307 | chr8 | 47817547 | G | A |
c.9460C>T
|
p.Gln3154Ter
|
- | 3.5 |
|
B | |
| 11560 | chr8 | 47819410 | C | T |
c.9437G>A
|
p.Ser3146Asn
|
- | 3.0 |
|
B | |
| 645 | chr8 | 47819432 | G | A |
c.9415C>T
|
p.Gln3139Ter
|
- | 3.5 |
|
B | |
| 646 | chr8 | 47823920 | G | A |
c.8860C>T
|
p.Gln2954Ter
|
- | 3.5 |
|
B | |
| 9002 | chr8 | 47823967 | A | G |
c.8813T>C
|
p.Val2938Ala
|
- | 3.0 |
|
B | |
| 9559 | chr8 | 47826708 | G | A |
c.8731C>T
|
p.Arg2911Cys
|
3.0 |
|
B | ||
| 8001 | chr8 | 47826714 | G | C |
c.8725C>G
|
p.Arg2909Gly
|
- | 3.0 |
|
B | |
| 8538 | chr8 | 47826720 | C | G |
c.8719G>C
|
p.Ala2907Pro
|
- | 3.0 |
|
B | |
| 32725 | chr8 | 47826731 | G | A |
c.8708C>T
|
p.Ala2903Val
|
- | 3.0 |
|
B | |
| 32728 | chr8 | 47828247 | G | C |
c.8498C>G
|
p.Thr2833Ser
|
- | 3.0 |
|
B | |
| 26115 | chr8 | 47830678 | T | A |
c.8324A>T
|
p.Tyr2775Phe
|
- | 3.0 |
|
B | |
| 30363 | chr8 | 47831802 | C | T |
c.8265+12G>A
|
-
|
- | 3.0 |
|
B | |
| 13917 | chr8 | 47831935 | G | A |
c.8153-9C>T
|
-
|
- | 3.0 |
|
B | |
| 32603 | chr8 | 47834195 | C | G |
c.8152+1G>C
|
p.?
|
- | 3.5 |
|
B | |
| 33796 | chr8 | 47834230 | GCC | G |
c.8116_8117del
|
p.Gly2706ProfsTer8
|
- | 3.5 |
|
B |