Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2763 | chr7 | 106868160 | C | T |
c.599C>T
|
p.Pro200Leu
|
- | 3.0 |
|
B | |
| 1939 | chr7 | 106868169 | C | T |
c.608C>T
|
p.Thr203Met
|
3.0 |
|
B | ||
| 8972 | chr7 | 106868238 | G | A |
c.677G>A
|
p.Arg226His
|
3.0 |
|
B | ||
| 17787 | chr7 | 106868256 | C | T |
c.695C>T
|
p.Thr232Ile
|
- | 3.0 |
|
B | |
| 6858 | chr7 | 106868294 | C | A |
c.733C>A
|
p.Leu245Met
|
- | 3.0 |
|
B | |
| 4205 | chr7 | 106868348 | G | A |
c.787G>A
|
p.Glu263Lys
|
3.0 |
|
B | ||
| 6131 | chr7 | 106868372 | G | T |
c.811G>T
|
p.Val271Leu
|
- | 3.0 |
|
B | |
| 19490 | chr7 | 106868379 | G | A |
c.818G>A
|
p.Arg273His
|
3.0 |
|
B | ||
| 8115 | chr7 | 106868381 | G | A |
c.820G>A
|
p.Val274Ile
|
3.0 |
|
B | ||
| 4902 | chr7 | 106868446 | C | G |
c.885C>G
|
p.His295Gln
|
3.0 |
|
B | ||
| 16961 | chr7 | 106868553 | G | A |
c.992G>A
|
p.Gly331Glu
|
- | 3.0 |
|
B | |
| 20343 | chr7 | 106868558 | A | G |
c.997A>G
|
p.Thr333Ala
|
- | 3.0 |
|
B | |
| 5069 | chr7 | 106868693 | G | T |
c.1132G>T
|
p.Asp378Tyr
|
- | 3.0 |
|
B | |
| 28385 | chr7 | 106868786 | C | A |
c.1225C>A
|
p.Leu409Met
|
- | 3.0 |
|
B | |
| 11493 | chr7 | 106868954 | A | C |
c.1393A>C
|
p.Asn465His
|
- | 3.0 |
|
B | |
| 5070 | chr7 | 106869013 | G | T |
c.1452G>T
|
p.Met484Ile
|
- | 3.0 |
|
B | |
| 22701 | chr7 | 106869092 | G | T |
c.1531G>T
|
p.Glu511Ter
|
- | 3.0 |
|
B | |
| 3793 | chr7 | 106869138 | C | T |
c.1577C>T
|
p.Pro526Leu
|
3.0 |
|
B | ||
| 5071 | chr7 | 106869160 | G | T |
c.1599G>T
|
p.Gln533His
|
- | 3.0 |
|
B | |
| 23484 | chr7 | 106869272 | G | C |
c.1711G>C
|
p.Asp571His
|
- | 3.0 |
|
B |