Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9453 | chr7 | 152248510 | G | C |
c.1924C>G
|
p.Gln642Glu
|
- | 3.0 |
|
B | |
| 28864 | chr7 | 152249930 | G | A |
c.1759C>T
|
p.Gln587Ter
|
- | 4.0 |
|
B | |
| 14596 | chr7 | 152249938 | G | A |
c.1751C>T
|
p.Thr584Ile
|
3.0 |
|
B | ||
| 6671 | chr7 | 152249958 | G | A |
c.1736-5C>T
|
-
|
3.0 |
|
B | ||
| 14643 | chr7 | 152250883 | G | A |
c.1705C>T
|
p.Gln569Ter
|
- | 4.0 |
|
B | |
| 9622 | chr7 | 152251983 | C | G |
c.1577G>C
|
p.Arg526Pro
|
1.0 |
|
B | ||
| 7167 | chr7 | 152251990 | T | C |
c.1570A>G
|
p.Met524Val
|
- | 3.0 |
|
B | |
| 16297 | chr7 | 152263045 | A | T |
c.1270T>A
|
p.Ser424Thr
|
- | 3.0 |
|
B | |
| 2469 | chr7 | 152263063 | G | A |
c.1252C>T
|
p.Leu418Phe
|
- | 3.0 |
|
B | |
| 33037 | chr7 | 152265049 | G | T |
c.1173C>A
|
p.Cys391Ter
|
3.0 |
|
B | ||
| 33038 | chr7 | 152265083 | C | A |
c.1139G>T
|
p.Arg380Leu
|
2.0 |
|
B | ||
| 11691 | chr7 | 152265137 | C | G |
c.1085G>C
|
p.Cys362Ser
|
- | 3.0 |
|
B | |
| 9396 | chr7 | 152265205 | C | G |
c.1017G>C
|
p.Lys339Asn
|
3.0 |
|
B | ||
| 17972 | chr7 | 152273771 | T | A |
c.946A>T
|
p.Thr316Ser
|
1.0 |
|
B | ||
| 29134 | chr7 | 152273774 | C | T |
c.943G>A
|
p.Gly315Ser
|
2.0 |
|
B | ||
| 7673 | chr7 | 152310016 | C | T |
c.799G>A
|
p.Glu267Lys
|
3.0 |
|
B | ||
| 26397 | chr7 | 152311942 | G | A |
c.595C>T
|
p.Arg199Ter
|
- | 4.0 |
|
B | |
| 33443 | chr7 | 152311942 | G | C |
c.595C>G
|
p.Arg199Gly
|
- | 3.0 |
|
B | |
| 6007 | chr7 | 152315300 | C | CT |
c.427dup
|
p.Ser143LysfsTer27
|
- | 4.0 |
|
B | |
| 34972 | chr7 | 152358620 | C | T |
c.217G>A
|
p.Glu73Lys
|
- | 3.0 |
|
B |