Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10690 | chr3 | 41224612 | G | A |
c.100G>A
|
p.Gly34Arg
|
4.5 |
|
B | ||
| 35078 | chr3 | 41224613 | G | A |
c.101G>A
|
p.Gly34Glu
|
4.5 |
|
B | ||
| 30789 | chr3 | 41224613 | G | T |
c.101G>T
|
p.Gly34Val
|
4.5 |
|
B | ||
| 26640 | chr3 | 41224621 | T | C |
c.109T>C
|
p.Ser37Pro
|
4.0 |
|
B | ||
| 1681 | chr3 | 41224622 | C | A |
c.110C>A
|
p.Ser37Tyr
|
4.0 |
|
B | ||
| 1773 | chr3 | 41224622 | C | G |
c.110C>G
|
p.Ser37Cys
|
3.0 |
|
B | ||
| 158 | chr3 | 41224622 | C | T |
c.110C>T
|
p.Ser37Phe
|
4.67 |
|
A | ||
| 159 | chr3 | 41224633 | A | G |
c.121A>G
|
p.Thr41Ala
|
4.5 |
|
A | ||
| 6857 | chr3 | 41224634 | C | A |
c.122C>A
|
p.Thr41Asn
|
3.0 |
|
B | ||
| 7238 | chr3 | 41224634 | C | T |
c.122C>T
|
p.Thr41Ile
|
3.0 |
|
B | ||
| 27676 | chr3 | 41224642 | C | G |
c.130C>G
|
p.Pro44Ala
|
- | 3.0 |
|
B | |
| 20835 | chr3 | 41224642 | CCTT | C |
c.133_135del
|
p.Ser45del
|
5.0 |
|
B | ||
| 6307 | chr3 | 41224645 | T | C |
c.133T>C
|
p.Ser45Pro
|
5.0 |
|
B | ||
| 24235 | chr3 | 41224645 | T | G |
c.133T>G
|
p.Ser45Ala
|
4.0 |
|
B | ||
| 6380 | chr3 | 41224646 | C | G |
c.134C>G
|
p.Ser45Cys
|
3.5 |
|
B | ||
| 160 | chr3 | 41224646 | C | T |
c.134C>T
|
p.Ser45Phe
|
5.0 |
|
B | ||
| 13272 | chr3 | 41224649 | T | G |
c.137T>G
|
p.Leu46Arg
|
- | 3.0 |
|
B | |
| 2440 | chr3 | 41225024 | T | G |
c.312T>G
|
p.Asp104Glu
|
- | 3.0 |
|
B | |
| 22188 | chr3 | 41225139 | C | T |
c.427C>T
|
p.Gln143Ter
|
- | 3.0 |
|
B | |
| 16703 | chr3 | 41225322 | C | T |
c.496-12C>T
|
-
|
2.0 |
|
B |