Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29511 | chr14 | 50766302 | C | G |
c.1635+5G>C
|
-
|
- | 3.0 |
|
B | |
| 1609 | chr14 | 50766384 | C | G |
c.1558G>C
|
p.Asp520His
|
2.5 |
|
B | ||
| 22629 | chr14 | 50766763 | G | A |
c.1545+17C>T
|
-
|
- | 3.0 |
|
B | |
| 33215 | chr14 | 50766880 | C | T |
c.1445G>A
|
p.Arg482His
|
3.0 |
|
B | ||
| 653 | chr14 | 50770948 | G | C |
c.1163C>G
|
p.Ser388Ter
|
3.0 |
|
B | ||
| 26775 | chr14 | 50770982 | C | T |
c.1129G>A
|
p.Asp377Asn
|
3.0 |
|
B | ||
| 31157 | chr14 | 50770988 | G | A |
c.1123C>T
|
p.Arg375Ter
|
3.0 |
|
B | ||
| 7522 | chr14 | 50771420 | G | C |
c.1030C>G
|
p.Leu344Val
|
3.0 |
|
B | ||
| 8904 | chr14 | 50771446 | C | A |
c.1004G>T
|
p.Gly335Val
|
- | 3.0 |
|
B | |
| 28788 | chr14 | 50772358 | C | G |
c.924G>C
|
p.Glu308Asp
|
- | 3.0 |
|
B | |
| 11716 | chr14 | 50772462 | C | A |
c.820G>T
|
p.Asp274Tyr
|
3.0 |
|
B | ||
| 34042 | chr14 | 50773031 | T | C |
c.731A>G
|
p.Tyr244Cys
|
- | 3.0 |
|
B | |
| 24578 | chr14 | 50792521 | G | A |
c.435+191C>T
|
-
|
3.0 |
|
B | ||
| 13930 | chr14 | 50792786 | G | A |
c.361C>T
|
p.Pro121Ser
|
3.0 |
|
B | ||
| 32355 | chr14 | 50792901 | T | C |
c.266-20A>G
|
-
|
- | 3.0 |
|
B | |
| 34484 | chr14 | 50806718 | G | A |
c.265+19C>T
|
-
|
3.0 |
|
B | ||
| 7993 | chr14 | 50806772 | C | A |
c.230G>T
|
p.Arg77Ile
|
- | 3.0 |
|
B | |
| 32343 | chr14 | 50821926 | T | A |
c.131A>T
|
p.Glu44Val
|
- | 3.0 |
|
B | |
| 680 | chr14 | 50821936 | TCAACA | T |
c.116_120del
|
p.Met39LysfsTer25
|
- | 3.0 |
|
B | |
| 3693 | chr14 | 50944290 | G | A |
c.114C>T
|
p.Phe38=
|
- | 3.0 |
|
B |