Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7926 | chr19 | 15238811 | G | A |
c.3952C>T
|
p.Gln1318Ter
|
- | 3.0 |
|
B | |
| 5252 | chr19 | 15238868 | G | A |
c.3895C>T
|
p.Gln1299Ter
|
- | 3.0 |
|
B | |
| 16090 | chr19 | 15239090 | CCTT | C |
c.3748_3750del
|
p.Lys1250del
|
- | 3.0 |
|
B | |
| 29085 | chr19 | 15239283 | GGGGTGGGTGAGGGGTCTGCTGTGCCTAAA | G |
c.3577-48_3577-20del
|
-
|
- | 3.0 |
|
B | |
| 31004 | chr19 | 15239647 | G | C |
c.3445+12C>G
|
-
|
- | 3.0 |
|
B | |
| 3068 | chr19 | 15240011 | C | T |
c.3181G>A
|
p.Glu1061Lys
|
3.0 |
|
B | ||
| 547 | chr19 | 15240029 | G | A |
c.3170-7C>T
|
-
|
3.0 |
|
B | ||
| 1014 | chr19 | 15243080 | C | T |
c.2989G>A
|
p.Val997Met
|
3.0 |
|
B | ||
| 26734 | chr19 | 15243089 | G | A |
c.2980C>T
|
p.Pro994Ser
|
3.0 |
|
B | ||
| 29671 | chr19 | 15243112 | G | A |
c.2957C>T
|
p.Pro986Leu
|
- | 3.0 |
|
B | |
| 29531 | chr19 | 15243128 | G | A |
c.2941C>T
|
p.Gln981Ter
|
- | 3.0 |
|
B | |
| 32753 | chr19 | 15243233 | G | A |
c.2836C>T
|
p.Pro946Ser
|
- | 3.0 |
|
B | |
| 21283 | chr19 | 15243337 | A | C |
c.2732T>G
|
p.Val911Gly
|
- | 3.0 |
|
B | |
| 14786 | chr19 | 15243402 | G | A |
c.2667C>T
|
p.Ala889=
|
3.0 |
|
B | ||
| 11850 | chr19 | 15243425 | G | A |
c.2644C>T
|
p.Pro882Ser
|
3.0 |
|
B | ||
| 25773 | chr19 | 15244375 | G | A |
c.2437C>T
|
p.Pro813Ser
|
- | 3.0 |
|
B | |
| 24357 | chr19 | 15244771 | GAA | G |
c.2159-11_2159-10del
|
-
|
- | 3.0 |
|
B | |
| 16846 | chr19 | 15253774 | G | A |
c.2158+378C>T
|
-
|
3.0 |
|
B | ||
| 2397 | chr19 | 15254169 | C | T |
c.2141G>A
|
p.Ser714Asn
|
- | 3.0 |
|
B | |
| 30709 | chr19 | 15254173 | C | T |
c.2137G>A
|
p.Asp713Asn
|
- | 3.0 |
|
B |