Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12403 | chr3 | 30674155 | T | G |
c.1305T>G
|
p.Asn435Lys
|
- | 3.0 |
|
B | |
| 153 | chr3 | 30688470 | C | T |
c.1483C>T
|
p.Arg495Ter
|
5.0 |
|
A | ||
| 154 | chr3 | 30688476 | C | T |
c.1489C>T
|
p.Arg497Ter
|
4.67 |
|
A | ||
| 2450 | chr3 | 30688486 | TTCCCAGCTTCTGGC | T |
c.1502_1515del
|
p.Pro501GlnfsTer10
|
- | 4.0 |
|
B | |
| 23937 | chr3 | 30688513 | T | TC |
c.1524+2_1524+3insC
|
-
|
- | 3.5 |
|
B | |
| 10802 | chr3 | 30691433 | T | C |
c.1538T>C
|
p.Val513Ala
|
- | 3.0 |
|
B | |
| 10601 | chr3 | 30691442 | C | G |
c.1547C>G
|
p.Thr516Arg
|
- | 3.0 |
|
B | |
| 2164 | chr3 | 30691465 | G | A |
c.1570G>A
|
p.Asp524Asn
|
3.0 |
|
B | ||
| 5555 | chr3 | 30691477 | C | A |
c.1582C>A
|
p.Arg528Ser
|
- | 3.5 |
|
B | |
| 16584 | chr3 | 30691477 | C | G |
c.1582C>G
|
p.Arg528Gly
|
- | 3.0 |
|
B | |
| 481 | chr3 | 30691477 | C | T |
c.1582C>T
|
p.Arg528Cys
|
3.5 |
|
B | ||
| 1594 | chr3 | 30691478 | G | A |
c.1583G>A
|
p.Arg528His
|
3.5 |
|
B | ||
| 8916 | chr3 | 30691496 | T | TGGC |
c.1602_1604dup
|
p.Ala535dup
|
- | 3.0 |
|
B | |
| 26173 | chr3 | 32953485 | GTATGAAAGTATCCCCAAGCCTTGCACCAAAGAAGGCATCAAGGCATT | G |
c.65_111del
|
p.Tyr22TrpfsTer38
|
- | 3.0 |
|
B | |
| 20645 | chr3 | 32953687 | G | A |
c.265G>A
|
p.Val89Met
|
3.0 |
|
B | ||
| 26793 | chr3 | 32954051 | G | A |
c.629G>A
|
p.Gly210Glu
|
- | 3.0 |
|
B | |
| 21373 | chr3 | 32954399 | TTG | T |
c.980_981del
|
p.Val327AlafsTer14
|
- | 3.0 |
|
B | |
| 1016 | chr3 | 36993287 | G | T |
-
-
|
-
-
|
3.0 |
|
B | ||
| 28016 | chr3 | 36993290 | C | A |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 932 | chr3 | 36993376 | G | A |
-
-
|
-
-
|
- | 3.0 |
|
B |