Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10403 | chr4 | 65351443 | G | T |
c.2391C>A
|
p.Asp797Glu
|
- | 3.0 |
|
B | |
| 22023 | chr4 | 65351445 | C | A |
c.2389G>T
|
p.Asp797Tyr
|
- | 3.0 |
|
B | |
| 9832 | chr4 | 65353041 | C | A |
c.2235+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 6180 | chr4 | 65353058 | A | G |
c.2219T>C
|
p.Leu740Ser
|
- | 3.0 |
|
B | |
| 845 | chr4 | 65365013 | T | A |
c.2173+4A>T
|
-
|
- | 3.0 |
|
B | |
| 17667 | chr4 | 65365016 | C | A |
c.2173+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 8430 | chr4 | 65365166 | A | T |
c.2024T>A
|
p.Leu675Gln
|
- | 3.0 |
|
B | |
| 34891 | chr4 | 65365919 | C | A |
c.1987+13G>T
|
-
|
- | 3.0 |
|
B | |
| 2824 | chr4 | 65365944 | C | G |
c.1975G>C
|
p.Val659Leu
|
- | 3.0 |
|
B | |
| 34857 | chr4 | 65365947 | T | C |
c.1972A>G
|
p.Arg658Gly
|
- | 3.0 |
|
B | |
| 2954 | chr4 | 65365971 | C | T |
c.1948G>A
|
p.Glu650Lys
|
- | 3.0 |
|
B | |
| 29016 | chr4 | 65366001 | G | T |
c.1918C>A
|
p.Gln640Lys
|
3.0 |
|
B | ||
| 23018 | chr4 | 65366009 | TC | T |
c.1909del
|
p.Asp637IlefsTer13
|
- | 3.5 |
|
B | |
| 34444 | chr4 | 65367374 | T | C |
c.1844A>G
|
p.His615Arg
|
3.0 |
|
B | ||
| 4412 | chr4 | 65367396 | C | T |
c.1822G>A
|
p.Asp608Asn
|
- | 3.0 |
|
B | |
| 2571 | chr4 | 65367423 | G | A |
c.1795C>T
|
p.Arg599Trp
|
3.0 |
|
B | ||
| 13836 | chr4 | 65377020 | C | T |
c.1794-9596G>A
|
-
|
- | 3.0 |
|
B | |
| 21747 | chr4 | 65377040 | C | T |
c.1794-9616G>A
|
-
|
- | 3.0 |
|
B | |
| 8844 | chr4 | 65404409 | C | A |
c.1758G>T
|
p.Leu586Phe
|
3.0 |
|
B | ||
| 31066 | chr4 | 65404495 | G | T |
c.1688-16C>A
|
-
|
- | 3.0 |
|
B |