Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15365 | chr14 | 99176183 | G | T |
c.653C>A
|
p.Pro218His
|
- | 3.0 |
|
B | |
| 27133 | chr14 | 99257456 | C | T |
c.427+15G>A
|
-
|
3.0 |
|
B | ||
| 25977 | chr14 | 99257773 | C | A |
c.125G>T
|
p.Ser42Ile
|
- | 3.0 |
|
B | |
| 20129 | chr14 | 99271170 | G | A |
c.49C>T
|
p.Leu17Phe
|
3.0 |
|
B | ||
| 20248 | chr14 | 101809868 | CT | C |
c.259+23696del
|
-
|
3.0 |
|
B | ||
| 26545 | chr14 | 102082276 | T | C |
c.1924A>G
|
p.Ile642Val
|
3.0 |
|
B | ||
| 6761 | chr14 | 102082326 | AT | A |
c.1873del
|
p.Met625TrpfsTer12
|
- | 3.0 |
|
B | |
| 24793 | chr14 | 102083092 | G | GT |
c.1696dup
|
p.Thr566AsnfsTer4
|
- | 3.0 |
|
B | |
| 681 | chr14 | 102083932 | C | G |
c.1199G>C
|
p.Arg400Pro
|
- | 3.0 |
|
B | |
| 32254 | chr14 | 102083983 | T | A |
c.1148A>T
|
p.Asn383Ile
|
- | 2.5 |
|
B | |
| 20130 | chr14 | 102083986 | GA | G |
c.1148-4del
|
-
|
- | 3.0 |
|
B | |
| 836 | chr14 | 102084435 | T | C |
c.1111A>G
|
p.Met371Val
|
- | 3.0 |
|
B | |
| 3129 | chr14 | 102084895 | G | A |
c.767C>T
|
p.Pro256Leu
|
3.0 |
|
B | ||
| 10730 | chr14 | 102084920 | C | T |
c.742G>A
|
p.Glu248Lys
|
3.0 |
|
B | ||
| 29027 | chr14 | 102084929 | TTTCTTC | T |
c.727_732del
|
p.Glu243_Glu244del
|
3.0 |
|
B | ||
| 7877 | chr14 | 102085342 | C | A |
c.619G>T
|
p.Val207Leu
|
- | 3.0 |
|
B | |
| 18157 | chr14 | 102085369 | A | T |
c.592T>A
|
p.Leu198Met
|
- | 3.0 |
|
B | |
| 18158 | chr14 | 102085370 | G | A |
c.591C>T
|
p.Tyr197=
|
3.0 |
|
B | ||
| 9384 | chr14 | 102085395 | T | TG |
c.565dup
|
p.His189ProfsTer8
|
- | 3.0 |
|
B | |
| 32824 | chr14 | 102086006 | G | A |
c.281C>T
|
p.Thr94Ile
|
3.0 |
|
B |