Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23101 | chr19 | 6213716 | GC | G |
c.1479+9del
|
-
|
3.0 |
|
B | ||
| 30397 | chr19 | 6216463 | C | T |
c.1249G>A
|
p.Asp417Asn
|
- | 3.0 |
|
B | |
| 12957 | chr19 | 6218054 | G | T |
c.1111-13C>A
|
-
|
- | 3.0 |
|
B | |
| 20423 | chr19 | 6222389 | CGGGGTG | C |
c.836_841del
|
p.Pro279_Pro280del
|
2.5 |
|
B | ||
| 16878 | chr19 | 6222425 | T | G |
c.806A>C
|
p.Lys269Thr
|
- | 3.0 |
|
B | |
| 9597 | chr19 | 6230634 | C | T |
c.356G>A
|
p.Cys119Tyr
|
- | 3.0 |
|
B | |
| 28097 | chr19 | 6230650 | C | T |
c.340G>A
|
p.Val114Met
|
3.0 |
|
B | ||
| 3733 | chr19 | 6375403 | C | CAGGGCCGAGCCCACGG |
-
-
c.361_362insCCGTGGGCTCGGCCCT
|
-
-
p.Gly121AlafsTer22
|
- | 3.0 |
|
B | |
| 3734 | chr19 | 6375405 | GCCGTGGGCTCGGCCCT | G |
-
-
c.344_359del
|
-
-
p.Gln115ProfsTer77
|
- | 3.0 |
|
B | |
| 20424 | chr19 | 6583383 | C | T |
-
|
-
|
3.0 |
|
B | ||
| 17402 | chr19 | 6583476 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 15249 | chr19 | 6586033 | C | G |
c.569G>C
|
p.Trp190Ser
|
- | 3.0 |
|
B | |
| 33064 | chr19 | 6586154 | C | T |
c.448G>A
|
p.Gly150Ser
|
3.0 |
|
B | ||
| 9935 | chr19 | 6586319 | G | T |
c.283C>A
|
p.Gln95Lys
|
- | 3.0 |
|
B | |
| 28530 | chr19 | 6590860 | A | G |
c.143T>C
|
p.Leu48Pro
|
- | 3.0 |
|
B | |
| 20770 | chr19 | 6590996 | C | T |
c.7G>A
|
p.Glu3Lys
|
- | 3.0 |
|
B | |
| 12476 | chr19 | 6772844 | C | T |
c.37C>T
|
p.Gln13Ter
|
- | 3.0 |
|
B | |
| 16626 | chr19 | 6784250 | C | T |
c.204+11239C>T
|
-
|
- | 3.0 |
|
B | |
| 18420 | chr19 | 6820766 | G | A |
c.269G>A
|
p.Arg90Gln
|
3.0 |
|
B | ||
| 19784 | chr19 | 6821772 | C | T |
c.381-19C>T
|
-
|
- | 3.0 |
|
B |