Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31832 | chr19 | 38475449 | C | T |
c.4292C>T
|
p.Thr1431Met
|
2.5 |
|
B | ||
| 15847 | chr19 | 38477722 | G | A |
c.4306G>A
|
p.Val1436Met
|
2.5 |
|
B | ||
| 14165 | chr19 | 38477755 | G | A |
c.4339G>A
|
p.Val1447Met
|
2.5 |
|
B | ||
| 2650 | chr19 | 38483057 | G | A |
c.4651G>A
|
p.Val1551Ile
|
3.0 |
|
B | ||
| 28441 | chr19 | 38483100 | T | A |
c.4694T>A
|
p.Leu1565Gln
|
- | 3.0 |
|
B | |
| 32053 | chr19 | 38483280 | C | G |
c.4708-10C>G
|
-
|
3.0 |
|
B | ||
| 32252 | chr19 | 38483339 | C | T |
c.4757C>T
|
p.Pro1586Leu
|
3.0 |
|
B | ||
| 22134 | chr19 | 38483504 | C | T |
c.4922C>T
|
p.Pro1641Leu
|
- | 3.0 |
|
B | |
| 1050 | chr19 | 38485586 | G | C |
c.4935-4G>C
|
-
|
- | 3.0 |
|
B | |
| 876 | chr19 | 38485624 | G | A |
c.4969G>A
|
p.Asp1657Asn
|
- | 3.0 |
|
B | |
| 16384 | chr19 | 38485691 | G | A |
c.5036G>A
|
p.Arg1679His
|
2.0 |
|
B | ||
| 29589 | chr19 | 38485693 | G | A |
c.5038G>A
|
p.Val1680Met
|
3.0 |
|
B | ||
| 12889 | chr19 | 38485765 | G | A |
c.5110G>A
|
p.Gly1704Ser
|
3.0 |
|
B | ||
| 2860 | chr19 | 38485835 | G | A |
c.5180G>A
|
p.Arg1727His
|
3.0 |
|
B | ||
| 26833 | chr19 | 38485904 | G | A |
c.5249G>A
|
p.Gly1750Glu
|
- | 3.0 |
|
B | |
| 13199 | chr19 | 38485930 | C | T |
c.5275C>T
|
p.Arg1759Trp
|
3.0 |
|
B | ||
| 20172 | chr19 | 38485989 | GC | G |
c.5340del
|
p.Cys1781ValfsTer32
|
- | 3.0 |
|
B | |
| 2421 | chr19 | 38485993 | C | T |
c.5338C>T
|
p.Pro1780Ser
|
- | 3.0 |
|
B | |
| 26737 | chr19 | 38486015 | C | T |
c.5360C>T
|
p.Pro1787Leu
|
1.0 |
|
B | ||
| 7135 | chr19 | 38486045 | G | A |
c.5390G>A
|
p.Arg1797His
|
- | 3.0 |
|
B |