Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28756 | chr9 | 21971016 | CG | C |
c.342del
|
p.Val115TrpfsTer31
|
- | 4.0 |
|
B | |
| 334 | chr9 | 21971018 | G | A |
c.341C>T
|
p.Pro114Leu
|
5.0 |
|
A | ||
| 23709 | chr9 | 21971018 | GGC | AAA |
c.339_341delinsTTT
|
p.Pro114Phe
|
- | 3.5 |
|
B | |
| 335 | chr9 | 21971019 | G | A |
c.340C>T
|
p.Pro114Ser
|
- |
|
B | ||
| 10678 | chr9 | 21971020 | CA | C |
c.338del
|
p.Leu113ArgfsTer33
|
- | 4.0 |
|
B | |
| 35259 | chr9 | 21971028 | CCCAGG | C |
c.326_330del
|
p.Ala109GlyfsTer9
|
- | 4.0 |
|
B | |
| 336 | chr9 | 21971029 | C | T |
c.330G>A
|
p.Trp110Ter
|
4.67 |
|
A | ||
| 337 | chr9 | 21971030 | C | T |
c.329G>A
|
p.Trp110Ter
|
5.0 |
|
B | ||
| 32809 | chr9 | 21971031 | AGGCATCGCGCAC | A |
c.316_327del
|
p.Val106_Ala109del
|
- | 3.0 |
|
B | |
| 35562 | chr9 | 21971036 | T | A |
c.323A>T
|
p.Asp108Val
|
3.5 |
|
B | ||
| 17454 | chr9 | 21971036 | TCGCGCACGTCCAGC | T |
c.309_322del
|
p.Leu104CysfsTer11
|
- | 4.0 |
|
B | |
| 13675 | chr9 | 21971037 | C | A |
c.322G>T
|
p.Asp108Tyr
|
4.0 |
|
B | ||
| 7520 | chr9 | 21971039 | C | T |
c.320G>A
|
p.Arg107His
|
2.5 |
|
B | ||
| 19071 | chr9 | 21971052 | G | A |
c.307C>T
|
p.Arg103Trp
|
3.0 |
|
B | ||
| 11549 | chr9 | 21971053 | C | T |
c.306G>A
|
p.Ala102=
|
- | 3.0 |
|
B | |
| 7064 | chr9 | 21971054 | G | T |
c.305C>A
|
p.Ala102Glu
|
3.5 |
|
B | ||
| 338 | chr9 | 21971058 | C | A |
c.301G>T
|
p.Gly101Trp
|
4.5 |
|
B | ||
| 13773 | chr9 | 21971066 | T | TGCA |
c.290_292dup
|
p.Leu97dup
|
- | 3.0 |
|
B | |
| 3050 | chr9 | 21971069 | A | T |
c.290T>A
|
p.Leu97Gln
|
- | 3.5 |
|
B | |
| 2633 | chr9 | 21971089 | G | T |
c.270C>A
|
p.Phe90Leu
|
- | 3.0 |
|
B |