Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32385 | chr13 | 21045779 | G | A |
c.248C>T
|
p.Ser83Phe
|
- | 3.0 |
|
B | |
| 15032 | chr13 | 21045881 | G | A |
c.146C>T
|
p.Ala49Val
|
- | 3.0 |
|
B | |
| 24028 | chr13 | 21672007 | T | G |
c.95T>G
|
p.Leu32Trp
|
- | 3.0 |
|
B | |
| 23963 | chr13 | 21681038 | A | G |
c.278-4A>G
|
-
|
- | 3.0 |
|
B | |
| 27879 | chr13 | 21681114 | G | A |
c.350G>A
|
p.Gly117Glu
|
- | 3.0 |
|
B | |
| 18602 | chr13 | 21701317 | G | A |
c.509G>A
|
p.Gly170Glu
|
- | 3.0 |
|
B | |
| 27778 | chr13 | 23329354 | CAT | C |
c.*780_*781del
-
|
-
-
|
- | 3.0 |
|
B | |
| 20386 | chr13 | 23329502 | TA | T |
c.*633del
-
|
-
-
|
3.0 |
|
B | ||
| 10756 | chr13 | 23330363 | G | T |
c.13513C>A
|
p.Leu4505Ile
|
- | 3.0 |
|
B | |
| 5708 | chr13 | 23330534 | G | T |
c.13342C>A
|
p.Arg4448Ser
|
- | 3.0 |
|
B | |
| 16951 | chr13 | 23330546 | G | C |
c.13330C>G
|
p.Pro4444Ala
|
- | 3.0 |
|
B | |
| 17887 | chr13 | 23330805 | A | C |
c.13071T>G
|
p.Asn4357Lys
|
- | 3.0 |
|
B | |
| 31857 | chr13 | 23330891 | T | C |
c.12985A>G
|
p.Ile4329Val
|
- | 3.0 |
|
B | |
| 21059 | chr13 | 23330983 | A | G |
c.12893T>C
|
p.Leu4298Pro
|
- | 3.0 |
|
B | |
| 10112 | chr13 | 23331152 | G | C |
c.12724C>G
|
p.Leu4242Val
|
- | 3.0 |
|
B | |
| 18901 | chr13 | 23331469 | A | G |
c.12407T>C
|
p.Leu4136Pro
|
- | 3.0 |
|
B | |
| 32628 | chr13 | 23331469 | A | T |
c.12407T>A
|
p.Leu4136His
|
- | 3.0 |
|
B | |
| 10006 | chr13 | 23331499 | C | A |
c.12377G>T
|
p.Cys4126Phe
|
- | 3.0 |
|
B | |
| 24791 | chr13 | 23331631 | G | C |
c.12245C>G
|
p.Ala4082Gly
|
3.0 |
|
B | ||
| 20787 | chr13 | 23332100 | C | T |
c.11776G>A
|
p.Asp3926Asn
|
2.5 |
|
B |