Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25199 | chr19 | 19146408 | G | A |
c.770-24C>T
|
-
|
- | 3.0 |
|
B | |
| 10476 | chr19 | 19146820 | T | TG |
c.596dup
|
p.Leu200ThrfsTer85
|
- | 3.0 |
|
B | |
| 15152 | chr19 | 19147750 | C | T |
c.341G>A
|
p.Arg114Gln
|
3.0 |
|
B | ||
| 35584 | chr19 | 19147768 | T | C |
c.323A>G
|
p.Glu108Gly
|
- | 3.0 |
|
B | |
| 9082 | chr19 | 19147778 | C | T |
c.313G>A
|
p.Gly105Arg
|
3.0 |
|
B | ||
| 27535 | chr19 | 19149215 | A | T |
c.258+11T>A
|
-
|
- | 3.0 |
|
B | |
| 18010 | chr19 | 19149216 | C | T |
c.258+10G>A
|
-
|
- | 3.0 |
|
B | |
| 24403 | chr19 | 19149360 | C | G |
c.124G>C
|
p.Glu42Gln
|
- | 3.0 |
|
B | |
| 23005 | chr19 | 19149385 | A | C |
c.99T>G
|
p.Tyr33Ter
|
- | 3.0 |
|
B | |
| 18421 | chr19 | 19150780 | G | A |
c.-29-16C>T
|
-
|
- | 3.0 |
|
B | |
| 33466 | chr19 | 19177437 | A | G |
c.*66T>C
|
-
|
- | 3.0 |
|
B | |
| 3338 | chr19 | 19544383 | G | C |
c.1838G>C
|
p.Arg613Pro
|
- | 3.0 |
|
B | |
| 12323 | chr19 | 19932056 | C | A |
c.227-1126C>A
|
-
|
3.0 |
|
B | ||
| 25387 | chr19 | 21530588 | G | T |
c.131-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 26735 | chr19 | 21536411 | G | A |
c.358G>A
|
p.Val120Ile
|
2.0 |
|
B | ||
| 35426 | chr19 | 21536649 | A | G |
c.596A>G
|
p.Asn199Ser
|
- | 3.0 |
|
B | |
| 24795 | chr19 | 21536831 | A | G |
c.778A>G
|
p.Lys260Glu
|
3.0 |
|
B | ||
| 34870 | chr19 | 21537202 | A | T |
c.1149A>T
|
p.Arg383Ser
|
- | 3.0 |
|
B | |
| 30902 | chr19 | 21537322 | A | C |
c.1269A>C
|
p.Lys423Asn
|
- | 3.0 |
|
B | |
| 31379 | chr19 | 21537462 | G | C |
c.1409G>C
|
p.Ser470Thr
|
- | 3.0 |
|
B |