Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3012 | chr1 | 150960654 | G | C |
c.2595G>C
-
|
p.Glu865Asp
-
|
- | 3.0 |
|
B | |
| 3013 | chr1 | 150960757 | G | A |
c.2698G>A
-
|
p.Glu900Lys
-
|
- | 3.5 |
|
B | |
| 2088 | chr1 | 150962159 | G | GT |
c.3161+2dup
-
|
-
-
|
- | 3.5 |
|
B | |
| 16964 | chr1 | 150962575 | C | G |
c.3162-12C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 12795 | chr1 | 150963130 | A | C |
c.3451A>C
-
|
p.Asn1151His
-
|
- | 3.0 |
|
B | |
| 31682 | chr1 | 150963140 | G | T |
c.3460+1G>T
-
|
p.?
-
|
- | 3.5 |
|
B | |
| 8222 | chr1 | 150963637 | G | GA |
c.3569dup
-
|
p.Ser1191GlufsTer6
-
|
- | 3.5 |
|
B | |
| 5869 | chr1 | 150963688 | T | C |
c.3619T>C
-
|
p.Ser1207Pro
-
|
- | 3.0 |
|
B | |
| 9123 | chr1 | 150964072 | C | A |
c.3750C>A
-
|
p.Phe1250Leu
-
|
- | 3.0 |
|
B | |
| 13516 | chr1 | 150964101 | G | A |
c.3761+18G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 30675 | chr1 | 150964354 | GTCT | G |
c.3874_3876del
-
|
p.Leu1292del
-
|
- | 3.0 |
|
B | |
| 21360 | chr1 | 151067372 | G | A |
-
c.148G>A
|
-
p.Gly50Arg
|
3.0 |
|
B | ||
| 2301 | chr1 | 151198110 | C | A |
-
|
-
|
- | 3.0 |
|
B | |
| 19946 | chr1 | 151224226 | GT | G |
c.86-10del
|
-
|
2.5 |
|
B | ||
| 13619 | chr1 | 151224236 | C | T |
c.86-9C>T
|
-
|
3.0 |
|
B | ||
| 12589 | chr1 | 151231772 | C | G |
c.339C>G
|
p.Phe113Leu
|
- | 3.0 |
|
B | |
| 33325 | chr1 | 151232334 | A | G |
c.455A>G
|
p.Glu152Gly
|
- | 3.0 |
|
B | |
| 15978 | chr1 | 151234237 | A | G |
c.680A>G
|
p.Tyr227Cys
|
- | 3.0 |
|
B | |
| 32173 | chr1 | 151234257 | G | A |
c.700G>A
|
p.Ala234Thr
|
3.0 |
|
B | ||
| 15789 | chr1 | 151234437 | CT | C |
c.887del
|
p.Leu296TrpfsTer25
|
3.0 |
|
B |