Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21375 | chr4 | 65601718 | G | T |
c.833C>A
|
p.Ala278Asp
|
- | 3.0 |
|
B | |
| 3803 | chr4 | 65601719 | C | T |
c.832G>A
|
p.Ala278Thr
|
3.0 |
|
B | ||
| 9060 | chr4 | 65601754 | G | A |
c.797C>T
|
p.Ser266Phe
|
- | 3.0 |
|
B | |
| 31457 | chr4 | 65601835 | T | G |
c.716A>C
|
p.His239Pro
|
- | 3.0 |
|
B | |
| 10077 | chr4 | 65601836 | G | A |
c.715C>T
|
p.His239Tyr
|
- | 3.0 |
|
B | |
| 6278 | chr4 | 65601847 | G | A |
c.704C>T
|
p.Ser235Phe
|
- | 3.0 |
|
B | |
| 9321 | chr4 | 65602073 | C | T |
c.478G>A
|
p.Asp160Asn
|
3.0 |
|
B | ||
| 6155 | chr4 | 65602078 | G | A |
c.473C>T
|
p.Ser158Leu
|
- | 3.0 |
|
B | |
| 28355 | chr4 | 65602081 | T | A |
c.470A>T
|
p.Glu157Val
|
- | 3.0 |
|
B | |
| 11312 | chr4 | 65602147 | C | A |
c.404G>T
|
p.Arg135Leu
|
3.0 |
|
B | ||
| 1331 | chr4 | 65602159 | T | G |
c.392A>C
|
p.Lys131Thr
|
- | 3.0 |
|
B | |
| 35383 | chr4 | 65602171 | A | G |
c.380T>C
|
p.Phe127Ser
|
- | 3.0 |
|
B | |
| 23683 | chr4 | 65602172 | A | C |
c.379T>G
|
p.Phe127Val
|
- | 3.0 |
|
B | |
| 805 | chr4 | 65602236 | C | A |
c.315G>T
|
p.Met105Ile
|
3.0 |
|
B | ||
| 1417 | chr4 | 65602299 | T | G |
c.252A>C
|
p.Glu84Asp
|
3.0 |
|
B | ||
| 34579 | chr4 | 65643340 | AGAAAAAC | A |
c.246+16_246+22del
|
-
|
- | 3.0 |
|
B | |
| 10328 | chr4 | 65643367 | T | G |
c.242A>C
|
p.Asn81Thr
|
1.5 |
|
B | ||
| 13481 | chr4 | 65643409 | C | T |
c.200G>A
|
p.Arg67His
|
3.0 |
|
B | ||
| 32820 | chr4 | 65669558 | C | A |
c.181+4G>T
|
-
|
- | 3.0 |
|
B | |
| 11189 | chr4 | 65669598 | C | T |
c.145G>A
|
p.Ala49Thr
|
3.0 |
|
B |