Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1259 | chr3 | 142497031 | A | G |
c.5720T>C
|
p.Leu1907Ser
|
- | 3.0 |
|
B | |
| 19048 | chr3 | 142497064 | G | A |
c.5687C>T
|
p.Ala1896Val
|
- | 3.0 |
|
B | |
| 1498 | chr3 | 142497067 | C | G |
c.5684G>C
|
p.Arg1895Thr
|
- | 3.0 |
|
B | |
| 13087 | chr3 | 142497159 | G | C |
c.5592C>G
|
p.Ile1864Met
|
- | 3.5 |
|
B | |
| 35140 | chr3 | 142497161 | T | C |
c.5590A>G
|
p.Ile1864Val
|
3.0 |
|
B | ||
| 27972 | chr3 | 142498603 | A | G |
c.5552T>C
|
p.Ile1851Thr
|
- | 3.0 |
|
B | |
| 34460 | chr3 | 142498714 | C | G |
c.5441G>C
|
p.Arg1814Thr
|
- | 3.0 |
|
B | |
| 32741 | chr3 | 142505216 | G | A |
c.5119C>T
|
p.Leu1707Phe
|
- | 3.0 |
|
B | |
| 1499 | chr3 | 142505248 | C | G |
c.5087G>C
|
p.Arg1696Thr
|
- | 3.0 |
|
B | |
| 22615 | chr3 | 142507923 | C | T |
c.5031+8G>A
|
-
|
3.0 |
|
B | ||
| 3098 | chr3 | 142507995 | A | C |
c.4967T>G
|
p.Met1656Arg
|
- | 3.0 |
|
B | |
| 19049 | chr3 | 142508070 | C | T |
c.4892G>A
|
p.Arg1631His
|
3.0 |
|
B | ||
| 3083 | chr3 | 142508071 | G | A |
c.4891C>T
|
p.Arg1631Cys
|
3.0 |
|
B | ||
| 19050 | chr3 | 142508118 | TA | T |
c.4853-10del
|
-
|
3.0 |
|
B | ||
| 4924 | chr3 | 142512374 | T | A |
c.4738A>T
|
p.Thr1580Ser
|
- | 3.0 |
|
B | |
| 8254 | chr3 | 142512434 | C | T |
c.4678G>A
|
p.Asp1560Asn
|
3.0 |
|
B | ||
| 20729 | chr3 | 142512437 | C | A |
c.4675G>T
|
p.Asp1559Tyr
|
- | 3.0 |
|
B | |
| 21845 | chr3 | 142513619 | C | T |
c.4523G>A
|
p.Ser1508Asn
|
3.0 |
|
B | ||
| 24517 | chr3 | 142515426 | G | C |
c.4472C>G
|
p.Ser1491Ter
|
- | 4.0 |
|
B | |
| 25801 | chr3 | 142515486 | C | A |
c.4412G>T
|
p.Trp1471Leu
|
- | 3.0 |
|
B |