Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20861 | chr2 | 140358000 | C | G |
c.11374G>C
|
p.Asp3792His
|
- | 3.0 |
|
B | |
| 15859 | chr2 | 140358136 | A | T |
c.11258-20T>A
|
-
|
- | 3.0 |
|
B | |
| 15699 | chr2 | 140358883 | G | A |
c.11195C>T
|
p.Ser3732Leu
|
3.0 |
|
B | ||
| 22462 | chr2 | 140358885 | C | A |
c.11193G>T
|
p.Gln3731His
|
3.0 |
|
B | ||
| 25660 | chr2 | 140358892 | C | T |
c.11186G>A
|
p.Cys3729Tyr
|
3.0 |
|
B | ||
| 14179 | chr2 | 140358899 | T | C |
c.11179A>G
|
p.Arg3727Gly
|
- | 3.0 |
|
B | |
| 7192 | chr2 | 140358900 | GT | G |
c.11177del
|
p.Asn3726ThrfsTer30
|
- | 4.0 |
|
B | |
| 9021 | chr2 | 140358907 | C | G |
c.11171G>C
|
p.Arg3724Thr
|
- | 3.0 |
|
B | |
| 26952 | chr2 | 140358952 | G | A |
c.11132-6C>T
|
-
|
3.0 |
|
B | ||
| 22256 | chr2 | 140358958 | G | A |
c.11132-12C>T
|
-
|
3.0 |
|
B | ||
| 31243 | chr2 | 140364691 | C | T |
c.11101G>A
|
p.Asp3701Asn
|
- | 3.0 |
|
B | |
| 15911 | chr2 | 140364711 | TCA | T |
c.11079_11080del
|
p.Cys3693Ter
|
- | 4.0 |
|
B | |
| 9735 | chr2 | 140364731 | T | A |
c.11061A>T
|
p.Lys3687Asn
|
- | 3.0 |
|
B | |
| 127 | chr2 | 140364783 | C | T |
c.11009G>A
|
p.Gly3670Glu
|
4.33 |
|
A | ||
| 18890 | chr2 | 140370711 | T | A |
c.11007A>T
|
p.Arg3669Ser
|
- | 3.0 |
|
B | |
| 29602 | chr2 | 140370740 | C | T |
c.10978G>A
|
p.Asp3660Asn
|
- | 3.0 |
|
B | |
| 2407 | chr2 | 140370809 | A | G |
c.10909T>C
|
p.Phe3637Leu
|
- | 3.0 |
|
B | |
| 8849 | chr2 | 140370849 | A | T |
c.10876-7T>A
|
-
|
- | 3.0 |
|
B | |
| 12800 | chr2 | 140371255 | A | T |
c.10799T>A
|
p.Ile3600Lys
|
3.0 |
|
B | ||
| 8768 | chr2 | 140371280 | G | A |
c.10774C>T
|
p.Pro3592Ser
|
3.0 |
|
B |