Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10793 | chr16 | 3590871 | TC | T |
c.2766del
|
p.Met923TrpfsTer78
|
- | 4.0 |
|
B | |
| 34228 | chr16 | 3590898 | C | T |
c.2740G>A
|
p.Asp914Asn
|
3.0 |
|
B | ||
| 12038 | chr16 | 3591018 | C | T |
c.2620G>A
|
p.Gly874Ser
|
3.0 |
|
B | ||
| 9876 | chr16 | 3591054 | G | A |
c.2584C>T
|
p.Arg862Ter
|
3.5 |
|
B | ||
| 7995 | chr16 | 3591192 | G | A |
c.2446C>T
|
p.Gln816Ter
|
- | 4.0 |
|
B | |
| 5929 | chr16 | 3592784 | C | T |
c.2242G>A
|
p.Ala748Thr
|
3.0 |
|
B | ||
| 30367 | chr16 | 3594488 | C | T |
c.2125G>A
|
p.Val709Met
|
3.0 |
|
B | ||
| 33958 | chr16 | 3594492 | C | G |
c.2121G>C
|
p.Lys707Asn
|
- | 3.0 |
|
B | |
| 17085 | chr16 | 3594566 | C | T |
c.2047G>A
|
p.Ala683Thr
|
2.5 |
|
B | ||
| 24139 | chr16 | 3595612 | C | T |
c.2006G>A
|
p.Arg669His
|
2.5 |
|
B | ||
| 10487 | chr16 | 3596231 | C | T |
c.1846G>A
|
p.Val616Met
|
3.0 |
|
B | ||
| 13382 | chr16 | 3596375 | C | T |
c.1702G>A
|
p.Val568Met
|
3.0 |
|
B | ||
| 16160 | chr16 | 3597489 | G | A |
c.1573C>T
|
p.Arg525Cys
|
2.5 |
|
B | ||
| 32344 | chr16 | 3597541 | C | A |
c.1521G>T
|
p.Arg507Ser
|
- | 3.0 |
|
B | |
| 780 | chr16 | 3597605 | C | T |
c.1457G>A
|
p.Arg486His
|
3.0 |
|
B | ||
| 25446 | chr16 | 3597795 | A | C |
c.1366+2T>G
|
p.?
|
- | 4.0 |
|
B | |
| 744 | chr16 | 3598007 | A | G |
c.1164-8T>C
|
-
|
- | 3.0 |
|
B | |
| 13064 | chr16 | 3601016 | CT | C |
c.1125del
|
p.Ala376HisfsTer21
|
- | 4.0 |
|
B | |
| 25909 | chr16 | 3601019 | T | G |
c.1123A>C
|
p.Thr375Pro
|
- | 3.0 |
|
B | |
| 28469 | chr16 | 3601028 | G | A |
c.1114C>T
|
p.Arg372Trp
|
3.0 |
|
B |