Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5309 | chr19 | 2216482 | C | T |
c.2125C>T
|
p.Pro709Ser
|
- | 3.0 |
|
B | |
| 5310 | chr19 | 2216483 | C | T |
c.2126C>T
|
p.Pro709Leu
|
3.0 |
|
B | ||
| 6919 | chr19 | 2216665 | G | A |
c.2308G>A
|
p.Asp770Asn
|
3.0 |
|
B | ||
| 7775 | chr19 | 2216746 | GC | G |
c.2391del
|
p.Ser798ValfsTer26
|
- | 3.0 |
|
B | |
| 10798 | chr19 | 2216774 | C | T |
c.2408+9C>T
|
-
|
- | 3.0 |
|
B | |
| 23100 | chr19 | 2217095 | G | A |
c.2544+5G>A
|
-
|
3.0 |
|
B | ||
| 25465 | chr19 | 2217755 | C | T |
c.2545-17C>T
|
-
|
3.0 |
|
B | ||
| 4708 | chr19 | 2217904 | C | T |
c.2677C>T
|
p.Arg893Cys
|
3.0 |
|
B | ||
| 22561 | chr19 | 2220183 | C | G |
c.2767C>G
|
p.His923Asp
|
- | 3.0 |
|
B | |
| 11847 | chr19 | 2222020 | G | A |
c.2851G>A
|
p.Gly951Ser
|
3.0 |
|
B | ||
| 33829 | chr19 | 2222149 | C | T |
c.2980C>T
|
p.Pro994Ser
|
3.0 |
|
B | ||
| 9843 | chr19 | 2222245 | G | A |
c.3076G>A
|
p.Gly1026Arg
|
- | 3.0 |
|
B | |
| 2514 | chr19 | 2222440 | C | T |
c.3271C>T
|
p.Arg1091Ter
|
- | 3.0 |
|
B | |
| 10932 | chr19 | 2222569 | G | C |
c.3390+10G>C
|
-
|
- | 3.0 |
|
B | |
| 2788 | chr19 | 2223486 | G | A |
c.3596G>A
|
p.Arg1199Gln
|
- | 3.0 |
|
B | |
| 25511 | chr19 | 2226215 | G | A |
c.3694G>A
|
p.Ala1232Thr
|
3.0 |
|
B | ||
| 6702 | chr19 | 2226378 | C | T |
c.3857C>T
|
p.Ala1286Val
|
- | 3.0 |
|
B | |
| 3969 | chr19 | 2226405 | GCTTTCCCGGCTCC | G |
c.3887_3899del
|
p.Phe1296CysfsTer27
|
- | 3.0 |
|
B | |
| 7795 | chr19 | 2226438 | T | A |
c.3917T>A
|
p.Leu1306His
|
- | 3.0 |
|
B | |
| 11006 | chr19 | 2226656 | C | A |
c.4135C>A
|
p.Leu1379Met
|
2.0 |
|
B |