Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14931 | chr8 | 117807263 | T | C |
c.1837A>G
|
p.Thr613Ala
|
3.0 |
|
B | ||
| 21000 | chr8 | 117807302 | C | T |
c.1798G>A
|
p.Asp600Asn
|
- | 3.0 |
|
B | |
| 15229 | chr8 | 117807364 | AAGGCGAAATCCACCTGC | A |
c.1723-4_1735del
|
p.?
|
- | 3.5 |
|
B | |
| 14932 | chr8 | 117812894 | T | C |
c.1700A>G
|
p.Asp567Gly
|
- | 3.0 |
|
B | |
| 10943 | chr8 | 117812933 | T | TC |
c.1660dup
|
p.Asp554GlyfsTer12
|
- | 4.0 |
|
B | |
| 4251 | chr8 | 117812980 | A | C |
c.1633-19T>G
|
-
|
- | 3.0 |
|
B | |
| 8973 | chr8 | 117818538 | G | A |
c.1537-8C>T
|
-
|
- | 3.0 |
|
B | |
| 6255 | chr8 | 117819743 | AG | A |
c.1468del
|
p.Leu490TrpfsTer9
|
4.0 |
|
B | ||
| 6592 | chr8 | 117822530 | C | T |
c.1352G>A
|
p.Gly451Glu
|
3.0 |
|
B | ||
| 21519 | chr8 | 117822564 | G | A |
c.1318C>T
|
p.Arg440Cys
|
3.0 |
|
B | ||
| 35654 | chr8 | 117830345 | G | T |
c.1169C>A
|
p.Pro390His
|
- | 3.0 |
|
B | |
| 19069 | chr8 | 117835459 | C | A |
c.1149G>T
|
p.Glu383Asp
|
- | 4.0 |
|
B | |
| 29639 | chr8 | 117835473 | C | T |
c.1135G>A
|
p.Val379Ile
|
2.5 |
|
B | ||
| 14933 | chr8 | 117837146 | G | A |
c.1018C>T
|
p.Arg340Cys
|
3.0 |
|
B | ||
| 1857 | chr8 | 117837160 | A | T |
c.1004T>A
|
p.Leu335Gln
|
- | 3.0 |
|
B | |
| 10691 | chr8 | 118110103 | T | C |
c.944A>G
|
p.Asp315Gly
|
- | 3.0 |
|
B | |
| 4884 | chr8 | 118110142 | T | C |
c.905A>G
|
p.Lys302Arg
|
- | 3.0 |
|
B | |
| 31342 | chr8 | 118110163 | A | AG |
c.883dup
|
p.Leu295ProfsTer19
|
- | 4.0 |
|
B | |
| 1489 | chr8 | 118110194 | G | T |
c.853C>A
|
p.His285Asn
|
- | 4.0 |
|
B | |
| 11022 | chr8 | 118110255 | C | CA |
c.791dup
|
p.Val265GlyfsTer24
|
- | 4.0 |
|
B |