Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9058 | chr16 | 13935463 | G | A |
c.1531G>A
|
p.Glu511Lys
|
3.0 |
|
B | ||
| 31151 | chr16 | 13935470 | G | A |
c.1538G>A
|
p.Gly513Glu
|
3.0 |
|
B | ||
| 7752 | chr16 | 13935479 | G | A |
c.1547G>A
|
p.Arg516Gln
|
3.0 |
|
B | ||
| 29903 | chr16 | 13935535 | G | C |
c.1603G>C
|
p.Asp535His
|
3.0 |
|
B | ||
| 4000 | chr16 | 13935595 | C | T |
c.1663C>T
|
p.His555Tyr
|
- | 3.0 |
|
B | |
| 30963 | chr16 | 13935641 | T | G |
c.1709T>G
|
p.Leu570Arg
|
- | 3.0 |
|
B | |
| 15467 | chr16 | 13944844 | T | C |
c.2017+9T>C
|
-
|
3.0 |
|
B | ||
| 20971 | chr16 | 13947670 | C | T |
c.2074C>T
|
p.Arg692Ter
|
4.0 |
|
B | ||
| 26728 | chr16 | 13947671 | G | A |
c.2075G>A
|
p.Arg692Gln
|
3.0 |
|
B | ||
| 15950 | chr16 | 13947721 | G | C |
c.2125G>C
|
p.Val709Leu
|
- | 3.0 |
|
B | |
| 33675 | chr16 | 13947784 | A | C |
c.2188A>C
|
p.Ser730Arg
|
- | 3.0 |
|
B | |
| 23084 | chr16 | 13947811 | G | A |
c.2215G>A
|
p.Gly739Ser
|
3.0 |
|
B | ||
| 2803 | chr16 | 13947901 | C | T |
c.2305C>T
|
p.Leu769Phe
|
3.0 |
|
B | ||
| 24765 | chr16 | 13947976 | C | T |
c.2380C>T
|
p.His794Tyr
|
3.0 |
|
B | ||
| 3037 | chr16 | 13947982 | C | T |
c.2386C>T
|
p.Pro796Ser
|
- | 3.0 |
|
B | |
| 34635 | chr16 | 13948015 | CATGCAACGGCGGAGTTGTTTGAGGAGCTG | C |
c.2421_2449del
|
p.His807GlnfsTer8
|
- | 4.0 |
|
B | |
| 11562 | chr16 | 13948137 | TC | T |
c.2545del
|
p.Gln849LysfsTer5
|
- | 4.0 |
|
B | |
| 10698 | chr16 | 13948161 | G | T |
c.2565G>T
|
p.Met855Ile
|
- | 3.0 |
|
B | |
| 16218 | chr16 | 13948186 | C | T |
c.2590C>T
|
p.Arg864Cys
|
3.0 |
|
B | ||
| 32446 | chr16 | 15708829 | T | TG |
c.5787-4707dup
c.947+11977dup
|
-
-
|
2.5 |
|
B |