Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 322 | chr7 | 140753336 | A | T |
c.1799T>A
|
p.Val600Glu
|
4.67 |
|
A | ||
| 32460 | chr7 | 140753337 | C | CCG |
c.1797_1798insCG
|
p.Val600ArgfsTer2
|
- | 3.0 |
|
B | |
| 325 | chr7 | 140753337 | C | CTGT |
c.1795_1797dup
|
p.Thr599dup
|
- | 4.33 |
|
A | |
| 324 | chr7 | 140753337 | C | T |
c.1798G>A
|
p.Val600Met
|
4.67 |
|
A | ||
| 25023 | chr7 | 140753338 | T | TGTA |
c.1794_1796dup
|
p.Thr599dup
|
4.5 |
|
B | ||
| 468 | chr7 | 140753349 | C | G |
c.1786G>C
|
p.Gly596Arg
|
4.0 |
|
B | ||
| 7947 | chr7 | 140753354 | T | C |
c.1781A>G
|
p.Asp594Gly
|
4.5 |
|
B | ||
| 664 | chr7 | 140753354 | T | G |
c.1781A>C
|
p.Asp594Ala
|
4.0 |
|
B | ||
| 21952 | chr7 | 140753355 | C | T |
c.1780G>A
|
p.Asp594Asn
|
4.5 |
|
B | ||
| 25032 | chr7 | 140753377 | T | G |
c.1758A>C
|
p.Glu586Asp
|
- | 3.0 |
|
B | |
| 25276 | chr7 | 140753379 | C | T |
c.1756G>A
|
p.Glu586Lys
|
4.5 |
|
B | ||
| 497 | chr7 | 140753385 | G | A |
c.1750C>T
|
p.Leu584Phe
|
4.0 |
|
B | ||
| 326 | chr7 | 140753393 | T | A |
c.1742A>T
|
p.Asn581Ile
|
- | 4.0 |
|
B | |
| 6688 | chr7 | 140753393 | T | G |
c.1742A>C
|
p.Asn581Thr
|
3.67 |
|
A | ||
| 33574 | chr7 | 140754190 | T | C |
c.1738A>G
|
p.Asn580Asp
|
- | 4.0 |
|
B | |
| 35571 | chr7 | 140754208 | G | A |
c.1720C>T
|
p.His574Tyr
|
4.0 |
|
B | ||
| 2833 | chr7 | 140776945 | A | G |
c.1661T>C
|
p.Ile554Thr
|
2.5 |
|
B | ||
| 9003 | chr7 | 140777005 | C | T |
c.1601G>A
|
p.Gly534Asp
|
- | 3.0 |
|
B | |
| 27529 | chr7 | 140777035 | T | C |
c.1571A>G
|
p.Gln524Arg
|
- | 3.0 |
|
B | |
| 1153 | chr7 | 140778007 | C | T |
c.1501G>A
|
p.Glu501Lys
|
4.0 |
|
B |