Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17110 | chr19 | 38500655 | G | C |
c.7373G>C
|
p.Arg2458Pro
|
- | 3.0 |
|
B | |
| 5995 | chr19 | 38500844 | A | G |
c.7468A>G
|
p.Met2490Val
|
- | 3.0 |
|
B | |
| 3593 | chr19 | 38500977 | C | T |
c.7601C>T
|
p.Ala2534Val
|
- | 3.0 |
|
B | |
| 3797 | chr19 | 38502546 | C | T |
c.7654C>T
|
p.Arg2552Cys
|
3.0 |
|
B | ||
| 24922 | chr19 | 38502564 | G | A |
c.7672G>A
|
p.Val2558Met
|
2.5 |
|
B | ||
| 21920 | chr19 | 38502589 | C | T |
c.7697C>T
|
p.Ala2566Val
|
3.0 |
|
B | ||
| 20174 | chr19 | 38502669 | C | T |
c.7777C>T
|
p.Arg2593Cys
|
3.0 |
|
B | ||
| 28497 | chr19 | 38502714 | A | G |
c.7822A>G
|
p.Met2608Val
|
3.0 |
|
B | ||
| 11060 | chr19 | 38504203 | C | G |
c.7927-17C>G
|
-
|
2.5 |
|
B | ||
| 21797 | chr19 | 38504223 | C | A |
c.7930C>A
|
p.Leu2644Ile
|
- | 3.0 |
|
B | |
| 12122 | chr19 | 38504814 | C | T |
c.8134C>T
|
p.Pro2712Ser
|
3.0 |
|
B | ||
| 12506 | chr19 | 38504923 | G | T |
c.8231+12G>T
|
-
|
- | 3.0 |
|
B | |
| 13512 | chr19 | 38505848 | G | A |
c.8443G>A
|
p.Ala2815Thr
|
- | 3.0 |
|
B | |
| 31935 | chr19 | 38506545 | A | T |
c.8691A>T
|
p.Lys2897Asn
|
- | 3.0 |
|
B | |
| 11551 | chr19 | 38506563 | C | T |
c.8692+17C>T
|
-
|
3.0 |
|
B | ||
| 16233 | chr19 | 38507710 | A | C |
c.8817-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 2252 | chr19 | 38507749 | G | A |
c.8854G>A
|
p.Glu2952Lys
|
- | 3.0 |
|
B | |
| 24673 | chr19 | 38510643 | C | A |
c.9001-17C>A
|
-
|
- | 3.0 |
|
B | |
| 8391 | chr19 | 38510762 | G | A |
c.9103G>A
|
p.Glu3035Lys
|
- | 3.0 |
|
B | |
| 7172 | chr19 | 38510763 | A | G |
c.9104A>G
|
p.Glu3035Gly
|
- | 3.0 |
|
B |