Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26303 | chr9 | 131174223 | C | T |
c.3062C>T
|
p.Thr1021Ile
|
3.0 |
|
B | ||
| 14339 | chr9 | 131175598 | G | A |
c.3296G>A
|
p.Arg1099Gln
|
3.0 |
|
B | ||
| 11621 | chr9 | 131178324 | G | C |
c.3333G>C
|
p.Leu1111Phe
|
- | 3.0 |
|
B | |
| 29643 | chr9 | 131192238 | C | T |
c.3605C>T
|
p.Ser1202Leu
|
- | 3.0 |
|
B | |
| 29894 | chr9 | 131195311 | G | T |
c.3721+17G>T
|
-
|
- | 3.0 |
|
B | |
| 15939 | chr9 | 131197620 | G | GC |
c.4133dup
|
p.Val1379GlyfsTer60
|
3.0 |
|
B | ||
| 18398 | chr9 | 131197819 | G | A |
c.4325G>A
|
p.Gly1442Glu
|
- | 3.0 |
|
B | |
| 13724 | chr9 | 131198008 | C | G |
c.4514C>G
|
p.Pro1505Arg
|
- | 3.0 |
|
B | |
| 21436 | chr9 | 131198223 | G | A |
c.4729G>A
|
p.Ala1577Thr
|
3.0 |
|
B | ||
| 29335 | chr9 | 131201698 | G | T |
c.5573G>T
|
p.Gly1858Val
|
- | 3.0 |
|
B | |
| 22125 | chr9 | 131215213 | A | T |
c.5594A>T
|
p.Gln1865Leu
|
- | 3.0 |
|
B | |
| 35193 | chr9 | 131215252 | A | C |
c.5633A>C
|
p.Asn1878Thr
|
- | 3.0 |
|
B | |
| 18315 | chr9 | 131222937 | C | T |
c.5902+7C>T
|
-
|
- | 3.0 |
|
B | |
| 34160 | chr9 | 131228190 | G | C |
c.5933G>C
|
p.Ser1978Thr
|
- | 3.0 |
|
B | |
| 21464 | chr9 | 131228329 | CGGGTAAGCCCCCTGGGGA | C |
c.6074+2_6074+19del
|
p.?
|
- | 3.0 |
|
B | |
| 13149 | chr9 | 131230626 | G | A |
c.6075-4G>A
|
-
|
3.0 |
|
B | ||
| 14260 | chr9 | 132896303 | G | A |
c.3427C>T
|
p.Pro1143Ser
|
- | 3.0 |
|
B | |
| 2065 | chr9 | 132896335 | G | A |
c.3395C>T
|
p.Pro1132Leu
|
3.0 |
|
B | ||
| 23162 | chr9 | 132896399 | T | TGTA |
c.3330_3331insTAC
|
p.Thr1110_Ser1111insTyr
|
- | 3.0 |
|
B | |
| 33559 | chr9 | 132896441 | G | A |
c.3289C>T
|
p.Arg1097Cys
|
2.0 |
|
B |