Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5501 | chr20 | 58895620 | G | A |
c.148G>A
|
p.Glu50Lys
|
- | 3.0 |
|
B | |
| 6074 | chr20 | 58895671 | G | A |
c.199G>A
|
p.Gly67Arg
|
3.0 |
|
B | ||
| 1813 | chr20 | 58898966 | G | A |
c.238G>A
|
p.Ala80Thr
|
- | 3.0 |
|
B | |
| 16860 | chr20 | 58903550 | C | T |
c.277C>T
|
p.Gln93Ter
|
3.0 |
|
B | ||
| 16861 | chr20 | 58903673 | C | T |
c.314C>T
|
p.Thr105Ile
|
- | 3.5 |
|
B | |
| 23542 | chr20 | 58905474 | C | G |
c.524C>G
|
p.Ala175Gly
|
- | 3.0 |
|
B | |
| 11033 | chr20 | 58905490 | C | T |
c.530+10C>T
|
-
|
2.0 |
|
B | ||
| 11344 | chr20 | 58909178 | G | A |
c.547G>A
|
p.Asp183Asn
|
3.0 |
|
B | ||
| 29087 | chr20 | 58909365 | C | A |
c.601C>A
|
p.Arg201Ser
|
4.0 |
|
B | ||
| 802 | chr20 | 58909365 | C | T |
c.601C>T
|
p.Arg201Cys
|
4.5 |
|
B | ||
| 1460 | chr20 | 58909366 | G | A |
c.602G>A
|
p.Arg201His
|
4.5 |
|
B | ||
| 7505 | chr20 | 58909541 | A | G |
c.680A>G
|
p.Gln227Arg
|
4.5 |
|
B | ||
| 29594 | chr20 | 58909728 | A | G |
c.763A>G
|
p.Met255Val
|
- | 3.0 |
|
B | |
| 27839 | chr20 | 58910006 | G | A |
c.895G>A
|
p.Glu299Lys
|
- | 3.0 |
|
B | |
| 9290 | chr20 | 58910048 | C | T |
c.937C>T
|
p.Pro313Ser
|
- | 3.0 |
|
B | |
| 23212 | chr20 | 58910348 | G | A |
c.985G>A
|
p.Gly329Arg
|
3.0 |
|
B | ||
| 20503 | chr20 | 58910361 | G | A |
c.998G>A
|
p.Arg333His
|
3.0 |
|
B | ||
| 5346 | chr20 | 58910361 | G | T |
c.998G>T
|
p.Arg333Leu
|
- | 3.0 |
|
B | |
| 26191 | chr20 | 58910406 | G | C |
c.1038+5G>C
|
-
|
- | 3.0 |
|
B | |
| 15870 | chr20 | 58910664 | C | T |
c.1039-19C>T
|
-
|
- | 3.0 |
|
B |