Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27179 | chr14 | 50723477 | G | A |
c.6388C>T
|
p.Pro2130Ser
|
3.0 |
|
B | ||
| 22373 | chr14 | 50727749 | G | A |
c.6079-1683C>T
|
-
|
3.0 |
|
B | ||
| 29724 | chr14 | 50738189 | T | C |
c.5726A>G
|
p.Lys1909Arg
|
- | 3.0 |
|
B | |
| 15207 | chr14 | 50738197 | C | G |
c.5718G>C
|
p.Leu1906Phe
|
- | 3.0 |
|
B | |
| 8838 | chr14 | 50738282 | C | T |
c.5633G>A
|
p.Arg1878His
|
3.0 |
|
B | ||
| 29510 | chr14 | 50739315 | C | A |
c.5621G>T
|
p.Arg1874Leu
|
- | 3.0 |
|
B | |
| 21890 | chr14 | 50739352 | T | C |
c.5584A>G
|
p.Met1862Val
|
2.5 |
|
B | ||
| 12754 | chr14 | 50739480 | G | A |
c.5456C>T
|
p.Ala1819Val
|
3.0 |
|
B | ||
| 33157 | chr14 | 50743475 | T | C |
c.5242A>G
|
p.Lys1748Glu
|
- | 3.0 |
|
B | |
| 8992 | chr14 | 50744325 | A | AT |
c.5104dup
|
p.Ile1702AsnfsTer3
|
3.0 |
|
B | ||
| 11835 | chr14 | 50748001 | TTTCTCCAG | T |
c.5047_5054del
|
p.Leu1683AsnfsTer12
|
- | 3.0 |
|
B | |
| 32589 | chr14 | 50752706 | G | A |
c.4762C>T
|
p.Gln1588Ter
|
- | 3.0 |
|
B | |
| 16131 | chr14 | 50752711 | T | C |
c.4757A>G
|
p.Asn1586Ser
|
- | 3.0 |
|
B | |
| 1340 | chr14 | 50754757 | G | A |
c.4649C>T
|
p.Ser1550Phe
|
- | 3.0 |
|
B | |
| 24888 | chr14 | 50757296 | G | A |
c.3734C>T
|
p.Ser1245Phe
|
3.0 |
|
B | ||
| 29135 | chr14 | 50757964 | C | T |
c.3066G>A
|
p.Met1022Ile
|
- | 3.0 |
|
B | |
| 15319 | chr14 | 50758290 | G | A |
c.2740C>T
|
p.Gln914Ter
|
- | 3.0 |
|
B | |
| 9637 | chr14 | 50760004 | G | A |
c.2252C>T
|
p.Thr751Ile
|
- | 3.0 |
|
B | |
| 19173 | chr14 | 50763813 | C | T |
c.1774+13G>A
|
-
|
2.0 |
|
B | ||
| 27808 | chr14 | 50763873 | G | C |
c.1727C>G
|
p.Pro576Arg
|
- | 3.0 |
|
B |