Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22138 | chr20 | 32433750 | GA | G |
c.1554del
|
p.Glu518AspfsTer185
|
- | 4.0 |
|
B | |
| 7825 | chr20 | 32433762 | C | T |
c.1564C>T
|
p.Gln522Ter
|
4.0 |
|
B | ||
| 14808 | chr20 | 32433936 | C | T |
c.1719+19C>T
|
-
|
- | 3.0 |
|
B | |
| 7654 | chr20 | 32434444 | C | T |
c.1732C>T
|
p.Arg578Cys
|
3.0 |
|
B | ||
| 13479 | chr20 | 32434445 | G | A |
c.1733G>A
|
p.Arg578His
|
3.0 |
|
B | ||
| 9083 | chr20 | 32434532 | G | A |
c.1820G>A
|
p.Gly607Asp
|
3.0 |
|
B | ||
| 15659 | chr20 | 32434543 | G | A |
c.1831G>A
|
p.Ala611Thr
|
2.0 |
|
B | ||
| 31311 | chr20 | 32434613 | G | C |
c.1901G>C
|
p.Arg634Thr
|
- | 3.0 |
|
B | |
| 817 | chr20 | 32434638 | A | AG |
c.1934dup
|
p.Gly646TrpfsTer12
|
4.5 |
|
B | ||
| 20429 | chr20 | 32434638 | A | AGG |
c.1933_1934dup
|
p.Gly646ValfsTer58
|
- | 4.0 |
|
B | |
| 1618 | chr20 | 32434638 | AG | A |
c.1934del
|
p.Gly645ValfsTer58
|
4.0 |
|
B | ||
| 11745 | chr20 | 32434738 | G | A |
c.2026G>A
|
p.Glu676Lys
|
3.0 |
|
B | ||
| 10875 | chr20 | 32434834 | C | T |
c.2122C>T
|
p.Gln708Ter
|
4.0 |
|
B | ||
| 6412 | chr20 | 32435096 | C | T |
c.2384C>T
|
p.Ser795Phe
|
3.0 |
|
B | ||
| 26859 | chr20 | 32435212 | C | T |
c.2500C>T
|
p.His834Tyr
|
- | 3.0 |
|
B | |
| 16629 | chr20 | 32435215 | C | T |
c.2503C>T
|
p.Pro835Ser
|
- | 3.0 |
|
B | |
| 7826 | chr20 | 32435420 | C | T |
c.2708C>T
|
p.Ser903Leu
|
3.0 |
|
B | ||
| 8472 | chr20 | 32435591 | G | A |
c.2879G>A
|
p.Trp960Ter
|
4.0 |
|
B | ||
| 32954 | chr20 | 32435914 | C | T |
c.3202C>T
|
p.Arg1068Ter
|
3.5 |
|
B | ||
| 17899 | chr20 | 32436231 | G | C |
c.3519G>C
|
p.Leu1173Phe
|
- | 3.0 |
|
B |