Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25243 | chr19 | 35719888 | C | T |
c.541C>T
-
|
p.Arg181Trp
-
|
- | 3.0 |
|
B | |
| 8841 | chr19 | 35719980 | T | A |
c.633T>A
-
|
p.Cys211Ter
-
|
- | 4.0 |
|
B | |
| 19792 | chr19 | 35719990 | AC | A |
c.649del
-
|
p.Arg217GlyfsTer22
-
|
- | 3.5 |
|
B | |
| 32208 | chr19 | 35719999 | C | T |
c.652C>T
-
|
p.Arg218Trp
-
|
3.0 |
|
B | ||
| 17620 | chr19 | 35720206 | C | T |
c.859C>T
-
|
p.Arg287Cys
-
|
2.5 |
|
B | ||
| 35222 | chr19 | 35720209 | G | A |
c.862G>A
-
|
p.Gly288Arg
-
|
- | 3.0 |
|
B | |
| 10457 | chr19 | 35720321 | CAGGTCA | C |
c.988_993del
-
|
p.Gly330_Gln331del
-
|
2.5 |
|
B | ||
| 12771 | chr19 | 35720332 | C | T |
c.985C>T
-
|
p.Gln329Ter
-
|
- | 3.5 |
|
B | |
| 7155 | chr19 | 35720437 | G | T |
c.1090G>T
-
|
p.Glu364Ter
-
|
- | 4.0 |
|
B | |
| 26736 | chr19 | 35720472 | CAAG | C |
c.1126_1128del
-
|
p.Lys376del
-
|
1.5 |
|
B | ||
| 30025 | chr19 | 35720707 | G | A |
c.1360G>A
-
|
p.Glu454Lys
-
|
- | 3.0 |
|
B | |
| 6932 | chr19 | 35720803 | C | T |
c.1456C>T
-
|
p.Arg486Trp
-
|
3.0 |
|
B | ||
| 35035 | chr19 | 35720858 | G | C |
c.1511G>C
-
|
p.Gly504Ala
-
|
- | 3.0 |
|
B | |
| 10532 | chr19 | 35720871 | A | C |
c.1524A>C
-
|
p.Glu508Asp
-
|
- | 3.0 |
|
B | |
| 30710 | chr19 | 35720882 | C | T |
c.1535C>T
-
|
p.Thr512Ile
-
|
3.0 |
|
B | ||
| 2057 | chr19 | 35720969 | A | G |
c.1622A>G
-
|
p.Lys541Arg
-
|
2.5 |
|
B | ||
| 25859 | chr19 | 35720995 | G | A |
c.1648G>A
-
|
p.Asp550Asn
-
|
- | 3.0 |
|
B | |
| 20039 | chr19 | 35720996 | A | AC |
c.1656dup
-
|
p.Lys553GlnfsTer46
-
|
3.5 |
|
B | ||
| 6289 | chr19 | 35721026 | C | T |
c.1679C>T
-
|
p.Ser560Leu
-
|
3.0 |
|
B | ||
| 35223 | chr19 | 35721298 | C | T |
c.1951C>T
-
|
p.Gln651Ter
-
|
- | 3.5 |
|
B |