Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35098 | chr19 | 18450792 | G | T |
c.1150C>A
|
p.Leu384Met
|
- | 3.0 |
|
B | |
| 13529 | chr19 | 18450941 | A | C |
c.1001T>G
|
p.Leu334Arg
|
- | 3.0 |
|
B | |
| 27935 | chr19 | 18451568 | G | A |
c.950C>T
|
p.Ser317Leu
|
3.0 |
|
B | ||
| 26858 | chr19 | 18451585 | TG | T |
c.932del
|
p.Pro311GlnfsTer24
|
- | 4.0 |
|
B | |
| 11153 | chr19 | 18458196 | C | T |
c.869+9G>A
|
-
|
3.0 |
|
B | ||
| 13125 | chr19 | 18461640 | G | A |
c.682C>T
|
p.Arg228Ter
|
- | 4.0 |
|
B | |
| 16534 | chr19 | 18461660 | C | T |
c.662G>A
|
p.Arg221His
|
3.0 |
|
B | ||
| 27708 | chr19 | 18461724 | T | C |
c.598A>G
|
p.Ser200Gly
|
- | 3.0 |
|
B | |
| 12492 | chr19 | 18465791 | C | T |
c.305+6G>A
|
-
|
- | 3.5 |
|
B | |
| 3561 | chr19 | 18538309 | C | T |
c.679G>A
|
p.Glu227Lys
|
- | 3.0 |
|
B | |
| 10300 | chr19 | 18683703 | A | T |
c.1A>T
|
p.Met1?
|
- | 3.0 |
|
B | |
| 26202 | chr19 | 18683736 | G | T |
c.34G>T
|
p.Glu12Ter
|
- | 3.0 |
|
B | |
| 13498 | chr19 | 18742968 | G | A |
c.185G>A
|
p.Gly62Asp
|
- | 3.0 |
|
B | |
| 34786 | chr19 | 18745874 | G | A |
c.295G>A
|
p.Gly99Arg
|
- | 3.0 |
|
B | |
| 21639 | chr19 | 18745895 | C | T |
c.316C>T
|
p.Arg106Trp
|
3.0 |
|
B | ||
| 34650 | chr19 | 18749807 | A | T |
c.470A>T
|
p.Gln157Leu
|
- | 3.0 |
|
B | |
| 9408 | chr19 | 18760082 | C | T |
c.740C>T
|
p.Pro247Leu
|
- | 3.0 |
|
B | |
| 14659 | chr19 | 18760112 | C | T |
c.770C>T
|
p.Pro257Leu
|
3.0 |
|
B | ||
| 30746 | chr19 | 18760246 | C | T |
c.886+18C>T
|
-
|
3.0 |
|
B | ||
| 1570 | chr19 | 18768570 | A | C |
c.1097A>C
|
p.Gln366Pro
|
- | 3.0 |
|
B |