Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18752 | chr6 | 127973695 | C | T |
c.4102G>A
|
p.Glu1368Lys
|
- | 3.0 |
|
B | |
| 17293 | chr6 | 127973767 | C | T |
c.4030G>A
|
p.Glu1344Lys
|
- | 3.0 |
|
B | |
| 24556 | chr6 | 127973770 | G | A |
c.4027C>T
|
p.Arg1343Ter
|
4.0 |
|
B | ||
| 14852 | chr6 | 127976644 | G | A |
c.3969+13C>T
|
-
|
3.0 |
|
B | ||
| 15956 | chr6 | 127976765 | C | G |
c.3861G>C
|
p.Trp1287Cys
|
- | 3.0 |
|
B | |
| 30692 | chr6 | 127983340 | C | G |
c.3289G>C
|
p.Asp1097His
|
- | 3.0 |
|
B | |
| 23993 | chr6 | 127985735 | G | T |
c.3237C>A
|
p.Ile1079=
|
3.0 |
|
B | ||
| 15873 | chr6 | 127985825 | C | A |
c.3147G>T
|
p.Trp1049Cys
|
- | 3.0 |
|
B | |
| 29265 | chr6 | 127985857 | G | A |
c.3115C>T
|
p.Arg1039Cys
|
3.0 |
|
B | ||
| 18785 | chr6 | 127990884 | A | C |
c.2981T>G
|
p.Val994Gly
|
- | 3.0 |
|
B | |
| 33102 | chr6 | 127995453 | A | G |
c.2844+9T>C
|
-
|
- | 3.0 |
|
B | |
| 35431 | chr6 | 127996885 | T | C |
c.2767+16A>G
|
-
|
3.0 |
|
B | ||
| 4036 | chr6 | 127996921 | C | T |
c.2747G>A
|
p.Arg916Gln
|
3.0 |
|
B | ||
| 32329 | chr6 | 127996960 | C | T |
c.2708G>A
|
p.Trp903Ter
|
- | 4.0 |
|
B | |
| 25203 | chr6 | 127998761 | T | G |
c.2638A>C
|
p.Met880Leu
|
- | 3.0 |
|
B | |
| 15657 | chr6 | 127998766 | T | C |
c.2633A>G
|
p.Asn878Ser
|
3.0 |
|
B | ||
| 19159 | chr6 | 128005083 | C | T |
c.2494+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 32148 | chr6 | 128005174 | T | C |
c.2404A>G
|
p.Met802Val
|
- | 3.0 |
|
B | |
| 14116 | chr6 | 128005228 | G | A |
c.2350C>T
|
p.Arg784Cys
|
3.0 |
|
B | ||
| 17294 | chr6 | 128009196 | C | T |
c.2267G>A
|
p.Gly756Glu
|
- | 3.0 |
|
B |