Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 38 | chr12 | 25227343 | G | T |
c.181C>A
|
p.Gln61Lys
|
4.0 |
|
B | ||
| 32816 | chr12 | 25227344 | A | C |
c.180T>G
|
p.Gly60=
|
- | 3.0 |
|
B | |
| 20496 | chr12 | 25227345 | CCTG | C |
c.176_178del
|
p.Ala59del
|
- | 3.0 |
|
B | |
| 6709 | chr12 | 25227348 | G | C |
c.176C>G
|
p.Ala59Gly
|
3.5 |
|
B | ||
| 28867 | chr12 | 25227378 | T | A |
c.146A>T
|
p.Glu49Val
|
- | 3.0 |
|
B | |
| 22656 | chr12 | 25227408 | G | A |
c.116C>T
|
p.Ser39Phe
|
- | 3.0 |
|
B | |
| 7876 | chr12 | 25245314 | A | T |
c.71T>A
|
p.Ile24Asn
|
- | 3.0 |
|
B | |
| 8953 | chr12 | 25245327 | T | C |
c.58A>G
|
p.Thr20Ala
|
- | 3.0 |
|
B | |
| 8954 | chr12 | 25245328 | C | A |
c.57G>T
|
p.Leu19Phe
|
3.5 |
|
B | ||
| 12021 | chr12 | 25245344 | A | ACGC |
c.38_40dup
|
p.Gly13dup
|
- | 3.0 |
|
B | |
| 8251 | chr12 | 25245345 | C | T |
c.40G>A
|
p.Val14Ile
|
4.0 |
|
B | ||
| 483 | chr12 | 25245347 | C | T |
c.38G>A
|
p.Gly13Asp
|
4.5 |
|
B | ||
| 2506 | chr12 | 25245348 | C | A |
c.37G>T
|
p.Gly13Cys
|
4.5 |
|
B | ||
| 31670 | chr12 | 25245348 | C | G |
c.37G>C
|
p.Gly13Arg
|
4.0 |
|
B | ||
| 670 | chr12 | 25245350 | C | A |
c.35G>T
|
p.Gly12Val
|
4.5 |
|
B | ||
| 35 | chr12 | 25245350 | C | G |
c.35G>C
|
p.Gly12Ala
|
4.88 |
|
S | ||
| 480 | chr12 | 25245350 | C | T |
c.35G>A
|
p.Gly12Asp
|
4.5 |
|
B | ||
| 997 | chr12 | 25245351 | C | A |
c.34G>T
|
p.Gly12Cys
|
4.5 |
|
B | ||
| 928 | chr12 | 25245351 | C | G |
c.34G>C
|
p.Gly12Arg
|
4.5 |
|
B | ||
| 2385 | chr12 | 25245351 | C | T |
c.34G>A
|
p.Gly12Ser
|
4.5 |
|
B |