Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23010 | chr1 | 2304434 | A | G |
c.1616A>G
|
p.Glu539Gly
|
- | 3.0 |
|
B | |
| 33097 | chr1 | 2304605 | C | T |
c.1767+20C>T
|
-
|
- | 3.0 |
|
B | |
| 25466 | chr1 | 2306081 | G | T |
c.1829G>T
|
p.Arg610Leu
|
- | 3.0 |
|
B | |
| 22703 | chr1 | 2306133 | G | A |
c.1881G>A
|
p.Met627Ile
|
3.0 |
|
B | ||
| 15586 | chr1 | 2306230 | C | T |
c.1978C>T
|
p.Arg660Cys
|
- | 3.0 |
|
B | |
| 23384 | chr1 | 2306270 | G | A |
c.1998+20G>A
|
-
|
3.0 |
|
B | ||
| 31698 | chr1 | 2306724 | G | A |
c.2146G>A
|
p.Glu716Lys
|
3.0 |
|
B | ||
| 20702 | chr1 | 2556685 | G | A |
c.21G>A
|
p.Trp7Ter
|
- | 4.0 |
|
B | |
| 22569 | chr1 | 2556715 | A | C |
c.51A>C
|
p.Lys17Asn
|
3.0 |
|
B | ||
| 14008 | chr1 | 2557761 | C | T |
c.105C>T
|
p.Tyr35=
|
2.0 |
|
B | ||
| 10464 | chr1 | 2557817 | G | A |
c.161G>A
|
p.Cys54Tyr
|
- | 3.0 |
|
B | |
| 9879 | chr1 | 2559939 | T | TA |
c.422dup
|
p.Tyr141Ter
|
- | 4.0 |
|
B | |
| 2349 | chr1 | 2560677 | C | T |
c.514C>T
|
p.Pro172Ser
|
- | 3.0 |
|
B | |
| 4033 | chr1 | 2561671 | A | G |
c.552-2A>G
|
p.?
|
4.0 |
|
B | ||
| 4032 | chr1 | 2561673 | G | A |
c.552G>A
|
p.Lys184=
|
3.5 |
|
B | ||
| 22149 | chr1 | 2562908 | C | T |
c.726+12C>T
|
-
|
3.0 |
|
B | ||
| 1512 | chr1 | 2563184 | AT | A |
c.765del
|
p.Ile255MetfsTer47
|
- | 4.0 |
|
B | |
| 11566 | chr1 | 2563251 | C | T |
c.830C>T
|
p.Thr277Met
|
3.0 |
|
B | ||
| 4116 | chr1 | 2785839 | G | A |
c.2039C>T
|
p.Ser680Phe
|
- | 3.0 |
|
B | |
| 17751 | chr1 | 3186238 | C | T |
c.151C>T
|
p.Pro51Ser
|
- | 3.0 |
|
B |