Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23065 | chr9 | 121167695 | T | G |
c.5844+18T>G
|
-
|
- | 3.0 |
|
B | |
| 31627 | chr9 | 121169683 | C | A |
c.6143C>A
|
p.Ala2048Glu
|
- | 3.0 |
|
B | |
| 24374 | chr9 | 121173322 | A | G |
c.6497A>G
-
|
p.Asp2166Gly
-
|
- | 3.0 |
|
B | |
| 13589 | chr9 | 121286141 | G | A |
c.-10+4579G>A
|
-
|
3.0 |
|
B | ||
| 4121 | chr9 | 122477513 | C | CAGAGCCAG |
c.413_414insCTGGCTCT
|
p.Gln138HisfsTer4
|
- | 3.0 |
|
B | |
| 3533 | chr9 | 122553642 | G | T |
c.431G>T
|
p.Cys144Phe
|
3.0 |
|
B | ||
| 823 | chr9 | 122629494 | A | C |
c.39T>G
|
p.Phe13Leu
|
- | 3.0 |
|
B | |
| 12315 | chr9 | 124524892 | C | A |
c.1202-19G>T
|
-
|
3.0 |
|
B | ||
| 3287 | chr9 | 124869436 | G | A |
c.146G>A
|
p.Arg49Gln
|
- | 3.0 |
|
B | |
| 831 | chr9 | 125149722 | T | A |
c.869A>T
|
p.Asp290Val
|
- | 3.0 |
|
B | |
| 360 | chr9 | 125149801 | G | A |
c.790C>T
|
p.Arg264Cys
|
4.5 |
|
A | ||
| 28273 | chr9 | 125149816 | G | A |
c.775C>T
|
p.Pro259Ser
|
- | 3.0 |
|
B | |
| 361 | chr9 | 125153547 | T | A |
c.655A>T
|
p.Lys219Ter
|
- | 4.33 |
|
A | |
| 32203 | chr9 | 125153574 | G | A |
c.628C>T
|
p.Arg210Ter
|
- | 4.0 |
|
B | |
| 17316 | chr9 | 125153655 | G | A |
c.547C>T
|
p.Gln183Ter
|
- | 4.0 |
|
B | |
| 25291 | chr9 | 125153673 | G | A |
c.529C>T
|
p.Arg177Ter
|
4.0 |
|
B | ||
| 18314 | chr9 | 125153682 | C | T |
c.520G>A
|
p.Asp174Asn
|
- | 3.0 |
|
B | |
| 17138 | chr9 | 125153700 | G | A |
c.502C>T
|
p.Pro168Ser
|
- | 3.0 |
|
B | |
| 23829 | chr9 | 125158280 | G | A |
c.340C>T
|
p.His114Tyr
|
- | 4.0 |
|
B | |
| 27473 | chr9 | 125158283 | T | C |
c.337A>G
|
p.Asn113Asp
|
- | 3.0 |
|
B |