Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26972 | chr14 | 55661553 | C | T |
c.3031C>T
|
p.Leu1011Phe
|
3.0 |
|
B | ||
| 13547 | chr14 | 55661570 | T | G |
c.3048T>G
|
p.Asp1016Glu
|
- | 3.0 |
|
B | |
| 26725 | chr14 | 55671590 | G | C |
c.3373G>C
|
p.Ala1125Pro
|
- | 3.0 |
|
B | |
| 22931 | chr14 | 55672679 | G | A |
c.3581G>A
|
p.Ser1194Asn
|
- | 3.0 |
|
B | |
| 21823 | chr14 | 55679691 | G | A |
c.4069+6G>A
|
-
|
- | 3.0 |
|
B | |
| 22932 | chr14 | 61322175 | C | T |
c.74C>T
|
p.Thr25Ile
|
3.0 |
|
B | ||
| 10997 | chr14 | 61333053 | C | G |
c.363+10589C>G
|
-
|
1.0 |
|
B | ||
| 35290 | chr14 | 61391205 | A | AT |
c.364-11dup
|
-
|
3.0 |
|
B | ||
| 10622 | chr14 | 61391267 | C | T |
c.406C>T
|
p.Leu136Phe
|
- | 3.0 |
|
B | |
| 1899 | chr14 | 61443119 | C | T |
c.436C>T
|
p.Gln146Ter
|
- | 3.0 |
|
B | |
| 9819 | chr14 | 61443170 | C | T |
c.487C>T
|
p.Arg163Ter
|
- | 3.0 |
|
B | |
| 5303 | chr14 | 61443261 | G | A |
c.578G>A
|
p.Trp193Ter
|
- | 3.0 |
|
B | |
| 16560 | chr14 | 61453315 | G | A |
c.922G>A
|
p.Gly308Arg
|
- | 3.0 |
|
B | |
| 23314 | chr14 | 61547746 | A | C |
c.1765A>C
|
p.Met589Leu
|
- | 3.0 |
|
B | |
| 19685 | chr14 | 61549669 | C | CT |
c.1906-6dup
|
-
|
1.5 |
|
B | ||
| 16062 | chr14 | 61549669 | CT | C |
c.1906-6del
|
-
|
3.0 |
|
B | ||
| 26579 | chr14 | 61549749 | C | T |
c.1970C>T
|
p.Pro657Leu
|
- | 3.0 |
|
B | |
| 5428 | chr14 | 61549769 | C | A |
c.1990C>A
|
p.Pro664Thr
|
- | 3.0 |
|
B | |
| 24763 | chr14 | 61695855 | C | T |
c.35+16C>T
|
-
|
3.0 |
|
B | ||
| 2797 | chr14 | 61697832 | A | AT |
c.35+2003dup
|
-
|
2.5 |
|
B |