Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20030 | chr7 | 102158541 | C | T |
c.675-19C>T
|
-
|
- | 3.0 |
|
B | |
| 5655 | chr7 | 102158578 | G | T |
c.693G>T
|
p.Met231Ile
|
3.0 |
|
B | ||
| 21458 | chr7 | 102170473 | G | T |
c.751G>T
|
p.Glu251Ter
|
- | 3.5 |
|
B | |
| 2724 | chr7 | 102170497 | TC | T |
c.776del
|
p.Ser259TrpfsTer22
|
- | 3.5 |
|
B | |
| 18211 | chr7 | 102178559 | CAG | C |
c.923_924del
|
p.Arg308ThrfsTer20
|
- | 4.0 |
|
B | |
| 7807 | chr7 | 102178599 | C | T |
c.959C>T
|
p.Ser320Leu
|
3.0 |
|
B | ||
| 14153 | chr7 | 102178673 | G | C |
c.1017+16G>C
|
-
|
- | 3.0 |
|
B | |
| 12092 | chr7 | 102178674 | G | A |
c.1017+17G>A
|
-
|
- | 3.0 |
|
B | |
| 23335 | chr7 | 102196838 | G | A |
c.1427G>A
|
p.Gly476Glu
|
- | 3.0 |
|
B | |
| 16504 | chr7 | 102197119 | G | A |
c.1708G>A
|
p.Gly570Arg
|
- | 3.0 |
|
B | |
| 7417 | chr7 | 102197199 | G | A |
c.1788G>A
|
p.Trp596Ter
|
- | 3.5 |
|
B | |
| 9779 | chr7 | 102197199 | G | C |
c.1788G>C
|
p.Trp596Cys
|
- | 3.0 |
|
B | |
| 2029 | chr7 | 102198849 | C | T |
c.1942C>T
|
p.Arg648Ter
|
- | 3.5 |
|
B | |
| 23136 | chr7 | 102200070 | G | A |
c.1961-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 9767 | chr7 | 102201420 | C | T |
c.2123C>T
|
p.Ser708Phe
|
- | 3.0 |
|
B | |
| 1562 | chr7 | 102201526 | C | CA |
c.2231dup
|
p.Leu745AlafsTer28
|
- | 3.5 |
|
B | |
| 13165 | chr7 | 102201543 | C | T |
c.2246C>T
|
p.Ser749Leu
|
2.5 |
|
B | ||
| 29592 | chr7 | 102201557 | G | A |
c.2260G>A
|
p.Val754Met
|
3.0 |
|
B | ||
| 12788 | chr7 | 102201585 | C | T |
c.2288C>T
|
p.Ser763Phe
|
3.0 |
|
B | ||
| 5775 | chr7 | 102201686 | C | T |
c.2389C>T
|
p.Gln797Ter
|
- | 3.0 |
|
B |