Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33669 | chr4 | 20598374 | A | T |
c.3671A>T
|
p.His1224Leu
|
3.0 |
|
B | ||
| 32565 | chr4 | 20598382 | T | C |
c.3679T>C
|
p.Ser1227Pro
|
- | 3.0 |
|
B | |
| 17160 | chr4 | 20598415 | G | A |
c.3692+20G>A
|
-
|
3.0 |
|
B | ||
| 30983 | chr4 | 20609993 | C | A |
c.3693-20C>A
|
-
|
- | 3.0 |
|
B | |
| 15469 | chr4 | 20609994 | AT | A |
c.3693-10del
|
-
|
3.0 |
|
B | ||
| 6212 | chr4 | 20610156 | T | A |
c.3836T>A
|
p.Leu1279His
|
- | 3.0 |
|
B | |
| 15898 | chr4 | 20616923 | G | T |
c.3861G>T
|
p.Lys1287Asn
|
- | 3.0 |
|
B | |
| 13058 | chr4 | 20616963 | G | A |
c.3901G>A
|
p.Gly1301Arg
|
3.0 |
|
B | ||
| 1806 | chr4 | 20616982 | G | A |
c.3920G>A
|
p.Cys1307Tyr
|
- | 3.0 |
|
B | |
| 6670 | chr4 | 20617202 | A | C |
c.4136+4A>C
|
-
|
- | 3.0 |
|
B | |
| 10543 | chr4 | 20617594 | TG | T |
c.4296del
|
p.Gln1433SerfsTer26
|
- | 3.0 |
|
B | |
| 28688 | chr4 | 20617635 | G | A |
c.4333G>A
|
p.Asp1445Asn
|
3.0 |
|
B | ||
| 1684 | chr4 | 20617655 | G | A |
c.4348+5G>A
|
-
|
3.0 |
|
B | ||
| 13537 | chr4 | 20617658 | A | T |
c.4348+8A>T
|
-
|
- | 3.0 |
|
B | |
| 27549 | chr4 | 20618759 | C | G |
c.4349-9C>G
|
-
|
- | 3.0 |
|
B | |
| 1936 | chr4 | 20618782 | G | A |
c.4363G>A
|
p.Gly1455Arg
|
3.0 |
|
B | ||
| 16097 | chr4 | 20618792 | T | G |
c.4373T>G
|
p.Ile1458Arg
|
- | 3.0 |
|
B | |
| 29551 | chr4 | 20618839 | A | G |
c.4420A>G
|
p.Thr1474Ala
|
- | 3.0 |
|
B | |
| 7151 | chr4 | 20618855 | G | A |
c.4436G>A
|
p.Arg1479Gln
|
3.0 |
|
B | ||
| 29973 | chr4 | 20618897 | G | T |
c.4478G>T
|
p.Gly1493Val
|
- | 3.0 |
|
B |