Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15041 | chr19 | 17834693 | T | A |
c.2228A>T
|
p.Gln743Leu
|
- | 3.0 |
|
B | |
| 22811 | chr19 | 17835193 | C | A |
c.1937G>T
|
p.Gly646Val
|
- | 3.0 |
|
B | |
| 8208 | chr19 | 17837994 | C | G |
c.1639G>C
|
p.Glu547Gln
|
- | 3.0 |
|
B | |
| 2861 | chr19 | 17838299 | C | T |
c.1533G>A
|
p.Met511Ile
|
3.5 |
|
B | ||
| 34118 | chr19 | 17838379 | G | T |
c.1453C>A
|
p.Leu485Met
|
- | 3.0 |
|
B | |
| 26832 | chr19 | 17839611 | C | T |
c.1307G>A
|
p.Gly436Glu
|
- | 3.0 |
|
B | |
| 21244 | chr19 | 17840265 | C | T |
c.1219G>A
|
p.Asp407Asn
|
- | 3.0 |
|
B | |
| 13629 | chr19 | 17840279 | C | T |
c.1205G>A
|
p.Arg402His
|
3.0 |
|
B | ||
| 9483 | chr19 | 17840300 | C | T |
c.1184G>A
|
p.Arg395His
|
2.5 |
|
B | ||
| 30885 | chr19 | 17841384 | C | T |
c.1142+5G>A
|
-
|
- | 3.0 |
|
B | |
| 19345 | chr19 | 17841443 | A | G |
c.1088T>C
|
p.Val363Ala
|
- | 3.0 |
|
B | |
| 30406 | chr19 | 17842277 | C | T |
c.861+39G>A
|
-
|
- | 3.0 |
|
B | |
| 28620 | chr19 | 17842379 | G | A |
c.798C>T
|
p.Asp266=
|
3.0 |
|
B | ||
| 22541 | chr19 | 17842623 | G | A |
c.567-13C>T
|
-
|
3.0 |
|
B | ||
| 24720 | chr19 | 17843097 | C | T |
c.496G>A
|
p.Ala166Thr
|
- | 3.0 |
|
B | |
| 11893 | chr19 | 17843129 | C | T |
c.464G>A
|
p.Ser155Asn
|
- | 3.0 |
|
B | |
| 13597 | chr19 | 17844235 | G | A |
c.183C>T
|
p.Ser61=
|
2.5 |
|
B | ||
| 27394 | chr19 | 17844302 | TG | T |
c.115del
|
p.Gln39SerfsTer108
|
3.0 |
|
B | ||
| 10733 | chr19 | 17844311 | C | T |
c.107G>A
|
p.Gly36Glu
|
3.0 |
|
B | ||
| 7699 | chr19 | 17844378 | G | T |
c.40C>A
|
p.Arg14Ser
|
- | 3.0 |
|
B |