Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17361 | chr1 | 156134910 | C | T |
c.745C>T
|
p.Arg249Trp
|
3.5 |
|
B | ||
| 10017 | chr1 | 156135197 | C | A |
c.821C>A
|
p.Ala274Asp
|
- | 3.0 |
|
B | |
| 32973 | chr1 | 156136035 | C | T |
c.1071C>T
|
p.Asp357=
|
2.0 |
|
B | ||
| 14112 | chr1 | 156136141 | G | A |
c.1157+20G>A
|
-
|
- | 3.0 |
|
B | |
| 16680 | chr1 | 156136294 | G | A |
c.1238G>A
|
p.Gly413Asp
|
3.0 |
|
B | ||
| 1485 | chr1 | 156136387 | AGG | A |
c.1332_1333del
|
p.Glu444AspfsTer3
|
- | 3.0 |
|
B | |
| 9542 | chr1 | 156136931 | T | A |
c.1391T>A
|
p.Met464Lys
|
3.5 |
|
B | ||
| 1542 | chr1 | 156136951 | C | T |
c.1411C>T
|
p.Arg471Cys
|
3.5 |
|
B | ||
| 24640 | chr1 | 156137039 | G | A |
c.1488+11G>A
|
-
|
- | 3.0 |
|
B | |
| 12872 | chr1 | 156138575 | G | A |
c.1786G>A
|
p.Asp596Asn
|
3.0 |
|
B | ||
| 28887 | chr1 | 156384558 | C | CT |
c.1266_1267insT
|
p.Pro423SerfsTer20
|
- | 3.0 |
|
B | |
| 29111 | chr1 | 156842064 | GTC | G |
c.3397+46_3397+47del
|
-
|
3.0 |
|
B | ||
| 29865 | chr1 | 156843191 | G | A |
c.2939C>T
|
p.Ser980Leu
|
3.0 |
|
B | ||
| 24966 | chr1 | 156854293 | G | C |
c.96C>G
|
p.Ser32Arg
|
- | 3.0 |
|
B | |
| 15155 | chr1 | 156860934 | G | A |
-
c.-1G>A
|
-
-
|
- | 3.0 |
|
B | |
| 11290 | chr1 | 156860986 | G | C |
-
c.52G>C
|
-
p.Gly18Arg
|
- | 3.0 |
|
B | |
| 24680 | chr1 | 156868087 | TC | T |
c.429-12del
|
-
|
- | 3.0 |
|
B | |
| 8708 | chr1 | 156868189 | G | T |
c.514G>T
|
p.Glu172Ter
|
- | 3.0 |
|
B | |
| 31196 | chr1 | 156868486 | G | A |
c.575-19G>A
|
-
|
3.5 |
|
B | ||
| 32807 | chr1 | 156868514 | C | T |
c.584C>T
|
p.Thr195Met
|
2.0 |
|
B |