Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29532 | chr19 | 18768590 | C | T |
c.1117C>T
|
p.Pro373Ser
|
- | 3.0 |
|
B | |
| 6395 | chr19 | 18768729 | C | T |
c.1256C>T
|
p.Ser419Phe
|
3.0 |
|
B | ||
| 35144 | chr19 | 18774966 | G | A |
c.1492G>A
|
p.Ala498Thr
|
3.0 |
|
B | ||
| 3106 | chr19 | 18774979 | C | T |
c.1505C>T
|
p.Ser502Phe
|
- | 3.0 |
|
B | |
| 32052 | chr19 | 18774984 | C | A |
c.1510C>A
|
p.Gln504Lys
|
- | 3.0 |
|
B | |
| 17409 | chr19 | 18775637 | C | T |
c.1513-4C>T
|
-
|
- | 3.0 |
|
B | |
| 1003 | chr19 | 18775779 | G | T |
c.1651G>T
|
p.Gly551Ter
|
- | 3.0 |
|
B | |
| 27081 | chr19 | 18775791 | C | G |
c.1663C>G
|
p.His555Asp
|
- | 3.0 |
|
B | |
| 19789 | chr19 | 18777151 | G | A |
c.1694-20G>A
|
-
|
- | 3.0 |
|
B | |
| 26980 | chr19 | 18777153 | C | T |
c.1694-18C>T
|
-
|
3.0 |
|
B | ||
| 31562 | chr19 | 18777162 | A | C |
c.1694-9A>C
|
-
|
3.0 |
|
B | ||
| 29672 | chr19 | 18777166 | C | T |
c.1694-5C>T
|
-
|
- | 3.0 |
|
B | |
| 8062 | chr19 | 18777182 | T | TC |
c.1713dup
|
p.Ser572GlnfsTer4
|
3.0 |
|
B | ||
| 19790 | chr19 | 18777182 | TC | T |
c.1713del
|
p.Ser572AlafsTer6
|
3.0 |
|
B | ||
| 11851 | chr19 | 18777264 | C | T |
c.1787C>T
|
p.Pro596Leu
|
- | 3.0 |
|
B | |
| 11630 | chr19 | 18777326 | G | A |
c.1849G>A
|
p.Asp617Asn
|
3.0 |
|
B | ||
| 11245 | chr19 | 18884287 | A | C |
c.-913-20T>G
c.410-20T>G
|
-
-
|
3.0 |
|
B | ||
| 14007 | chr19 | 19145777 | T | TGGCCCCGGTAGGAGATCACCC |
c.*19_*20insGGGTGATCTCCTACCGGGGCC
|
-
|
- | 3.0 |
|
B | |
| 23106 | chr19 | 19145958 | C | T |
c.946G>A
|
p.Val316Ile
|
- | 3.0 |
|
B | |
| 32962 | chr19 | 19145959 | T | G |
c.945A>C
|
p.Pro315=
|
3.0 |
|
B |