Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4835 | chr7 | 94551480 | T | A |
c.1956+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 6591 | chr7 | 96121318 | G | C |
c.1901C>G
|
p.Pro634Arg
|
- | 3.0 |
|
B | |
| 15295 | chr7 | 96121655 | A | C |
c.1841T>G
|
p.Val614Gly
|
- | 3.0 |
|
B | |
| 1386 | chr7 | 96121695 | C | A |
c.1801G>T
|
p.Glu601Ter
|
3.5 |
|
B | ||
| 31115 | chr7 | 96121724 | G | A |
c.1772C>T
|
p.Pro591Leu
|
- | 3.0 |
|
B | |
| 6537 | chr7 | 96121908 | C | G |
c.1681G>C
|
p.Gly561Arg
|
- | 3.0 |
|
B | |
| 14755 | chr7 | 96131752 | C | T |
c.1582G>A
|
p.Ala528Thr
|
3.0 |
|
B | ||
| 19486 | chr7 | 96131783 | C | A |
c.1551G>T
|
p.Gln517His
|
- | 3.0 |
|
B | |
| 6608 | chr7 | 96171476 | A | T |
c.1226T>A
|
p.Leu409His
|
- | 3.0 |
|
B | |
| 31971 | chr7 | 96171494 | G | A |
c.1208C>T
|
p.Pro403Leu
|
- | 3.0 |
|
B | |
| 15088 | chr7 | 96184929 | C | T |
c.1016G>A
|
p.Gly339Glu
|
- | 3.0 |
|
B | |
| 11029 | chr7 | 96185004 | G | C |
c.941C>G
|
p.Ser314Ter
|
- | 3.0 |
|
B | |
| 16295 | chr7 | 96189376 | C | T |
c.851G>A
|
p.Arg284His
|
3.0 |
|
B | ||
| 24449 | chr7 | 96189608 | T | A |
c.821A>T
|
p.Gln274Leu
|
- | 3.0 |
|
B | |
| 19141 | chr7 | 96191248 | C | A |
c.616-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 8776 | chr7 | 96208842 | A | T |
c.464T>A
|
p.Leu155Ter
|
- | 3.0 |
|
B | |
| 1025 | chr7 | 96208954 | G | A |
c.352C>T
|
p.Gln118Ter
|
- | 3.0 |
|
B | |
| 24933 | chr7 | 96208988 | A | G |
c.329-11T>C
|
-
|
2.5 |
|
B | ||
| 34380 | chr7 | 96234886 | C | T |
c.244G>A
|
p.Glu82Lys
|
- | 3.0 |
|
B | |
| 33851 | chr7 | 96234937 | T | A |
c.213-20A>T
|
-
|
- | 3.0 |
|
B |