Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12955 | chr11 | 45903193 | G | A |
c.1417+9G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 2682 | chr11 | 45904023 | G | A |
c.1528G>A
-
|
p.Glu510Lys
-
|
- | 3.0 |
|
B | |
| 32304 | chr11 | 45904083 | A | T |
c.1588A>T
-
|
p.Asn530Tyr
-
|
- | 3.0 |
|
B | |
| 30316 | chr11 | 45904442 | G | A |
c.1667-13G>A
-
|
-
-
|
3.0 |
|
B | ||
| 8755 | chr11 | 45904842 | C | A |
c.1893+8C>A
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 10905 | chr11 | 45905007 | A | G |
c.1930A>G
-
-
|
p.Ile644Val
-
-
|
3.0 |
|
B | ||
| 26227 | chr11 | 45905025 | C | T |
c.1948C>T
-
-
|
p.His650Tyr
-
-
|
- | 3.0 |
|
B | |
| 20812 | chr11 | 45905213 | C | T |
c.2027C>T
-
-
|
p.Ser676Phe
-
-
|
- | 3.0 |
|
B | |
| 10397 | chr11 | 45905215 | G | T |
c.2029G>T
-
-
|
p.Glu677Ter
-
-
|
- | 3.0 |
|
B | |
| 33800 | chr11 | 45910898 | T | C |
-
c.952A>G
-
|
-
p.Arg318Gly
-
|
- | 3.0 |
|
B | |
| 16185 | chr11 | 46307918 | C | T |
c.434C>T
|
p.Ser145Leu
|
3.0 |
|
B | ||
| 29406 | chr11 | 46307942 | T | C |
c.458T>C
|
p.Met153Thr
|
- | 3.0 |
|
B | |
| 17941 | chr11 | 46311016 | C | T |
c.596-16C>T
|
-
|
- | 3.0 |
|
B | |
| 30259 | chr11 | 46311104 | G | A |
c.668G>A
|
p.Arg223His
|
3.0 |
|
B | ||
| 23991 | chr11 | 46317362 | T | TGGC |
c.1134_1136dup
|
p.Ala380dup
|
- | 3.0 |
|
B | |
| 14699 | chr11 | 46320255 | C | T |
c.1259-9C>T
|
-
|
3.5 |
|
B | ||
| 31344 | chr11 | 46320278 | C | T |
c.1273C>T
|
p.Leu425Phe
|
- | 3.0 |
|
B | |
| 21485 | chr11 | 46320395 | C | T |
c.1390C>T
|
p.Arg464Trp
|
3.0 |
|
B | ||
| 17523 | chr11 | 46320494 | G | A |
c.1489G>A
|
p.Asp497Asn
|
3.0 |
|
B | ||
| 18456 | chr11 | 46320526 | C | T |
c.1521C>T
|
p.Asp507=
|
- | 3.5 |
|
B |