Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19067 | chr7 | 124829244 | T | G |
c.1594+10A>C
|
-
|
- | 3.0 |
|
B | |
| 15399 | chr7 | 124829280 | G | A |
c.1568C>T
|
p.Ser523Leu
|
2.5 |
|
B | ||
| 10786 | chr7 | 124829298 | G | A |
c.1550C>T
|
p.Ser517Phe
|
- | 3.0 |
|
B | |
| 14928 | chr7 | 124829299 | A | G |
c.1549T>C
|
p.Ser517Pro
|
- | 3.0 |
|
B | |
| 24756 | chr7 | 124829345 | G | A |
c.1506-3C>T
|
-
|
- | 3.0 |
|
B | |
| 22885 | chr7 | 124835412 | C | T |
c.1372G>A
|
p.Gly458Ser
|
3.0 |
|
B | ||
| 6844 | chr7 | 124840968 | C | T |
c.1369+5G>A
|
-
|
2.5 |
|
B | ||
| 5614 | chr7 | 124841015 | C | A |
c.1327G>T
|
p.Gly443Cys
|
3.0 |
|
B | ||
| 19068 | chr7 | 124841048 | G | A |
c.1294C>T
|
p.Arg432Ter
|
5.0 |
|
B | ||
| 2978 | chr7 | 124841129 | C | T |
c.1213G>A
|
p.Ala405Thr
|
3.0 |
|
B | ||
| 12429 | chr7 | 124841191 | G | A |
c.1164-13C>T
|
-
|
1.5 |
|
B | ||
| 9360 | chr7 | 124842800 | TACTC | T |
c.1163+3_1163+6del
|
-
|
3.0 |
|
B | ||
| 12430 | chr7 | 124846926 | T | C |
c.1006+16A>G
|
-
|
1.5 |
|
B | ||
| 8921 | chr7 | 124846972 | C | T |
c.976G>A
|
p.Val326Ile
|
3.0 |
|
B | ||
| 18117 | chr7 | 124851860 | G | A |
c.949+12C>T
|
-
|
- | 3.0 |
|
B | |
| 14929 | chr7 | 124851883 | T | C |
c.938A>G
|
p.Asp313Gly
|
- | 3.0 |
|
B | |
| 7571 | chr7 | 124851918 | C | G |
c.903G>C
|
p.Gln301His
|
- | 2.0 |
|
B | |
| 11411 | chr7 | 124851920 | G | C |
c.901C>G
|
p.Gln301Glu
|
- | 3.0 |
|
B | |
| 35233 | chr7 | 124853021 | C | T |
c.820G>A
|
p.Gly274Arg
|
3.0 |
|
B | ||
| 21931 | chr7 | 124853023 | C | T |
c.818G>A
|
p.Arg273Gln
|
3.5 |
|
B |