Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27685 | chr14 | 102905314 | AGCTACAATGGAGTGCTCATCTGGAAGATTC | A |
c.1240_1269del
|
p.Tyr414_Arg423del
|
- | 3.0 |
|
B | |
| 28396 | chr14 | 102905508 | C | G |
c.1431C>G
|
p.Ile477Met
|
- | 3.0 |
|
B | |
| 18411 | chr14 | 102905618 | C | T |
c.1541C>T
|
p.Pro514Leu
|
- | 3.0 |
|
B | |
| 10874 | chr14 | 102905661 | GAATATCGCCTCTGGCTGCCCAGTCTTTGTGGCCCA | G |
c.1587_1621del
|
p.Ile530CysfsTer9
|
- | 3.5 |
|
B | |
| 32703 | chr14 | 102905731 | G | A |
c.1654G>A
|
p.Asp552Asn
|
- | 3.0 |
|
B | |
| 17370 | chr14 | 102905737 | A | T |
c.1660A>T
|
p.Ile554Phe
|
- | 3.0 |
|
B | |
| 32704 | chr14 | 102905767 | G | A |
c.1690G>A
|
p.Asp564Asn
|
- | 3.0 |
|
B | |
| 33931 | chr14 | 103698869 | G | A |
c.1849-1786G>A
c.970C>T
|
-
p.Pro324Ser
|
3.0 |
|
B | ||
| 29097 | chr14 | 103698906 | TGGGCAGCCGA | T |
c.1849-1740_1849-1731del
c.923_932del
|
-
p.Leu308GlnfsTer58
|
3.5 |
|
B | ||
| 34348 | chr14 | 103699139 | G | A |
c.1849-1516G>A
c.815C>T
|
-
p.Pro272Leu
|
3.0 |
|
B | ||
| 23636 | chr14 | 103699429 | A | AGGCAT |
c.1849-1226_1849-1225insGGCAT
c.708_709insATGCC
|
-
p.Ser237MetfsTer11
|
- | 3.5 |
|
B | |
| 26822 | chr14 | 103699486 | G | A |
c.1849-1169G>A
c.652C>T
|
-
p.Pro218Ser
|
3.0 |
|
B | ||
| 28648 | chr14 | 103699591 | G | A |
c.1849-1064G>A
c.562-15C>T
|
-
-
|
3.0 |
|
B | ||
| 7661 | chr14 | 103703347 | G | C |
-
c.407-20C>G
|
-
-
|
- | 3.0 |
|
B | |
| 22205 | chr14 | 103708662 | G | T |
c.56-3C>A
|
-
|
- | 3.0 |
|
B | |
| 26855 | chr14 | 103711023 | A | G |
c.55+10T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 25444 | chr14 | 103711037 | C | G |
c.51G>C
-
|
p.Lys17Asn
-
|
3.0 |
|
B | ||
| 25315 | chr14 | 104769597 | G | A |
c.*744C>T
|
-
|
- | 3.0 |
|
B | |
| 35252 | chr14 | 104770432 | G | C |
c.1364-12C>G
|
-
|
- | 3.0 |
|
B | |
| 13495 | chr14 | 104770765 | G | A |
c.1343C>T
|
p.Thr448Ile
|
- | 3.0 |
|
B |