Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6425 | chr19 | 52211389 | C | T |
c.400C>T
|
p.Arg134Trp
|
3.0 |
|
B | ||
| 858 | chr19 | 52211404 | G | A |
c.415G>A
|
p.Asp139Asn
|
- | 3.0 |
|
B | |
| 14810 | chr19 | 52212675 | C | T |
c.504-11C>T
|
-
|
- | 3.0 |
|
B | |
| 3116 | chr19 | 52212715 | C | A |
c.533C>A
|
p.Thr178Asn
|
- | 3.0 |
|
B | |
| 10031 | chr19 | 52212718 | C | G |
c.536C>G
|
p.Pro179Arg
|
3.0 |
|
B | ||
| 11913 | chr19 | 52212730 | G | A |
c.548G>A
|
p.Arg183Gln
|
3.0 |
|
B | ||
| 6875 | chr19 | 52212835 | T | G |
c.651+2T>G
|
p.?
|
- | 4.5 |
|
B | |
| 21798 | chr19 | 52213007 | T | A |
c.704T>A
|
p.Leu235Gln
|
- | 3.0 |
|
B | |
| 25679 | chr19 | 52213081 | C | T |
c.778C>T
|
p.Arg260Cys
|
- | 3.0 |
|
B | |
| 23244 | chr19 | 52213123 | C | A |
c.807+13C>A
|
-
|
- | 3.0 |
|
B | |
| 18971 | chr19 | 52216683 | A | C |
c.1128+20A>C
|
-
|
- | 3.0 |
|
B | |
| 34655 | chr19 | 52219765 | C | CT |
c.1203_1204insT
|
p.Gln402SerfsTer12
|
- | 3.5 |
|
B | |
| 14233 | chr19 | 52219827 | C | T |
c.1265C>T
|
p.Ala422Val
|
- | 3.0 |
|
B | |
| 4609 | chr19 | 52219844 | C | T |
c.1282C>T
|
p.Pro428Ser
|
- | 3.0 |
|
B | |
| 23539 | chr19 | 52220171 | C | T |
c.1303-18C>T
|
-
|
- | 3.0 |
|
B | |
| 9687 | chr19 | 52220994 | A | C |
c.1379A>C
|
p.Glu460Ala
|
- | 3.0 |
|
B | |
| 27994 | chr19 | 52221096 | A | G |
c.1481A>G
|
p.Asn494Ser
|
2.0 |
|
B | ||
| 5551 | chr19 | 52221117 | C | T |
c.1502C>T
|
p.Thr501Met
|
3.0 |
|
B | ||
| 4866 | chr19 | 52512001 | A | T |
c.1620A>T
|
p.Lys540Asn
|
- | 3.0 |
|
B | |
| 31474 | chr19 | 52800725 | G | A |
c.1120C>T
|
p.Arg374Cys
|
3.0 |
|
B |