Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29456 | chr19 | 57231288 | C | T |
c.40C>T
|
p.Gln14Ter
|
3.0 |
|
B | ||
| 23402 | chr19 | 57232017 | C | T |
c.105-16C>T
|
-
|
- | 3.0 |
|
B | |
| 20582 | chr19 | 57232109 | C | T |
c.181C>T
|
p.Arg61Trp
|
3.0 |
|
B | ||
| 35631 | chr19 | 57232589 | G | C |
c.344G>C
|
p.Arg115Pro
|
- | 3.0 |
|
B | |
| 11451 | chr19 | 57232689 | C | T |
c.435+9C>T
|
-
|
3.0 |
|
B | ||
| 22016 | chr19 | 57234891 | A | G |
c.592A>G
|
p.Thr198Ala
|
- | 3.0 |
|
B | |
| 16008 | chr19 | 57235023 | G | A |
c.724G>A
|
p.Ala242Thr
|
3.0 |
|
B | ||
| 35262 | chr19 | 57235048 | G | A |
c.749G>A
|
p.Arg250His
|
3.0 |
|
B | ||
| 30422 | chr19 | 57858911 | C | A |
c.499C>A
|
p.Gln167Lys
|
- | 3.0 |
|
B | |
| 30252 | chr19 | 57858930 | G | GCGAGTTTGGGAAGGGC |
c.532_533insGCCGAGTTTGGGAAGG
|
p.Asp178GlyfsTer26
|
- | 3.0 |
|
B | |
| 25273 | chr19 | 57868485 | A | G |
-
-
|
-
-
|
3.0 |
|
B | ||
| 28871 | chr19 | 57872869 | ACTT | A |
c.2518_2520del
|
p.Lys840del
|
- | 3.0 |
|
B | |
| 6519 | chr19 | 57872987 | C | A |
c.2403G>T
|
p.Glu801Asp
|
- | 3.0 |
|
B | |
| 24796 | chr19 | 57873015 | CT | C |
c.2374del
|
p.Arg792GlufsTer121
|
3.0 |
|
B | ||
| 11499 | chr19 | 57873018 | T | G |
c.2372A>C
|
p.Lys791Thr
|
3.0 |
|
B | ||
| 24797 | chr19 | 57873019 | T | C |
c.2371A>G
|
p.Lys791Glu
|
3.0 |
|
B | ||
| 2701 | chr19 | 57873031 | A | G |
c.2359T>C
|
p.Phe787Leu
|
3.0 |
|
B | ||
| 2182 | chr19 | 57873231 | G | A |
c.2159C>T
|
p.Ala720Val
|
3.0 |
|
B | ||
| 22120 | chr19 | 57873289 | ACTT | A |
c.2098_2100del
|
p.Lys700del
|
3.0 |
|
B | ||
| 32175 | chr19 | 57873411 | A | T |
c.1979T>A
|
p.Phe660Tyr
|
3.0 |
|
B |