Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19874 | chr13 | 35055995 | AT | A |
c.973-8del
|
-
|
3.0 |
|
B | ||
| 30195 | chr13 | 35056048 | G | A |
c.1011G>A
|
p.Trp337Ter
|
- | 3.0 |
|
B | |
| 29655 | chr13 | 35098367 | G | A |
c.1642G>A
|
p.Gly548Arg
|
3.0 |
|
B | ||
| 28763 | chr13 | 35110825 | T | C |
c.1849T>C
|
p.Tyr617His
|
- | 3.0 |
|
B | |
| 25441 | chr13 | 35118432 | C | G |
c.2201C>G
|
p.Pro734Arg
|
- | 3.0 |
|
B | |
| 17749 | chr13 | 35142309 | C | A |
c.2377C>A
|
p.Leu793Ile
|
- | 3.0 |
|
B | |
| 25195 | chr13 | 35159125 | C | T |
c.2954C>T
|
p.Ser985Phe
|
- | 3.0 |
|
B | |
| 31042 | chr13 | 35159134 | C | T |
c.2963C>T
|
p.Ser988Leu
|
- | 3.0 |
|
B | |
| 18690 | chr13 | 35159149 | G | C |
c.2978G>C
|
p.Gly993Ala
|
- | 3.0 |
|
B | |
| 22605 | chr13 | 35159201 | G | T |
c.3030G>T
|
p.Gln1010His
|
- | 3.0 |
|
B | |
| 27265 | chr13 | 35159421 | G | A |
c.3250G>A
|
p.Gly1084Arg
|
3.0 |
|
B | ||
| 24945 | chr13 | 35159472 | A | T |
c.3301A>T
|
p.Ser1101Cys
|
- | 3.0 |
|
B | |
| 27392 | chr13 | 35159525 | TA | T |
c.3362del
|
p.Asn1121MetfsTer9
|
3.0 |
|
B | ||
| 14824 | chr13 | 35159779 | T | A |
c.3608T>A
|
p.Ile1203Lys
|
- | 3.0 |
|
B | |
| 31375 | chr13 | 35159861 | G | T |
c.3690G>T
|
p.Lys1230Asn
|
- | 3.0 |
|
B | |
| 27174 | chr13 | 35159944 | G | A |
c.3773G>A
|
p.Gly1258Glu
|
3.0 |
|
B | ||
| 33289 | chr13 | 35161936 | G | C |
c.4048G>C
|
p.Ala1350Pro
|
- | 3.0 |
|
B | |
| 15360 | chr13 | 35164525 | C | T |
c.4233+16C>T
|
-
|
- | 3.0 |
|
B | |
| 16805 | chr13 | 35171274 | G | A |
c.4245G>A
|
p.Thr1415=
|
3.0 |
|
B | ||
| 31506 | chr13 | 35171350 | A | G |
c.4321A>G
|
p.Met1441Val
|
3.0 |
|
B |