Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16876 | chr19 | 38444607 | G | C |
c.561G>C
|
p.Glu187Asp
|
- | 3.0 |
|
B | |
| 31826 | chr19 | 38446453 | T | C |
c.632-19T>C
|
-
|
3.0 |
|
B | ||
| 18636 | chr19 | 38446481 | C | T |
c.641C>T
|
p.Thr214Met
|
3.0 |
|
B | ||
| 33074 | chr19 | 38446535 | T | A |
c.695T>A
|
p.Ile232Asn
|
- | 3.0 |
|
B | |
| 28326 | chr19 | 38446580 | C | T |
c.725+15C>T
|
-
|
2.0 |
|
B | ||
| 21702 | chr19 | 38446775 | C | T |
c.800+7C>T
|
-
|
2.5 |
|
B | ||
| 13693 | chr19 | 38448375 | G | A |
c.821G>A
|
p.Arg274His
|
2.5 |
|
B | ||
| 11326 | chr19 | 38448393 | G | A |
c.839G>A
|
p.Arg280Gln
|
3.0 |
|
B | ||
| 26527 | chr19 | 38448469 | G | T |
c.915G>T
|
p.Lys305Asn
|
- | 3.0 |
|
B | |
| 12772 | chr19 | 38448489 | C | T |
c.935C>T
|
p.Ser312Phe
|
- | 3.0 |
|
B | |
| 23664 | chr19 | 38448629 | T | A |
c.958-20T>A
|
-
|
- | 3.0 |
|
B | |
| 29247 | chr19 | 38448746 | C | G |
c.1055C>G
|
p.Ser352Ter
|
- | 3.0 |
|
B | |
| 3069 | chr19 | 38448777 | C | A |
c.1086C>A
|
p.Asp362Glu
|
- | 3.0 |
|
B | |
| 14788 | chr19 | 38451797 | G | A |
c.1156G>A
|
p.Ala386Thr
|
3.0 |
|
B | ||
| 7365 | chr19 | 38451813 | G | T |
c.1172G>T
|
p.Arg391Leu
|
- | 3.0 |
|
B | |
| 24587 | chr19 | 38452842 | A | G |
c.1268A>G
|
p.Lys423Arg
|
- | 3.0 |
|
B | |
| 15250 | chr19 | 38452847 | C | G |
c.1273C>G
|
p.Arg425Gly
|
- | 3.0 |
|
B | |
| 31528 | chr19 | 38453014 | G | A |
c.1440G>A
|
p.Glu480=
|
2.0 |
|
B | ||
| 1990 | chr19 | 38455230 | C | A |
c.1441-5C>A
|
-
|
- | 3.0 |
|
B | |
| 20539 | chr19 | 38455462 | C | T |
c.1588C>T
|
p.Arg530Cys
|
3.0 |
|
B |