Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27021 | chr14 | 95091302 | C | T |
c.5428G>A
|
p.Asp1810Asn
|
4.0 |
|
B | ||
| 21009 | chr14 | 95091344 | C | T |
c.5386G>A
|
p.Glu1796Lys
|
- | 3.0 |
|
B | |
| 9181 | chr14 | 95091355 | G | T |
c.5375C>A
|
p.Ser1792Tyr
|
- | 3.0 |
|
B | |
| 18410 | chr14 | 95091379 | A | G |
c.5365-14T>C
|
-
|
- | 3.0 |
|
B | |
| 14513 | chr14 | 95093920 | C | T |
c.5332G>A
|
p.Glu1778Lys
|
- | 3.0 |
|
B | |
| 16177 | chr14 | 95094079 | G | A |
c.5173C>T
|
p.Arg1725Trp
|
3.0 |
|
B | ||
| 20714 | chr14 | 95094126 | T | C |
c.5126A>G
|
p.Asp1709Gly
|
3.0 |
|
B | ||
| 25442 | chr14 | 95094127 | C | T |
c.5125G>A
|
p.Asp1709Asn
|
3.5 |
|
B | ||
| 28039 | chr14 | 95094169 | G | A |
c.5096-13C>T
|
-
|
2.0 |
|
B | ||
| 2914 | chr14 | 95095808 | G | A |
c.5095+17C>T
|
-
|
- | 2.5 |
|
B | |
| 21793 | chr14 | 95096068 | A | G |
c.4852T>C
|
p.Ser1618Pro
|
- | 3.0 |
|
B | |
| 28040 | chr14 | 95096088 | T | G |
c.4832A>C
|
p.Asn1611Thr
|
3.0 |
|
B | ||
| 31010 | chr14 | 95096262 | CACTGCTCAGT | C |
c.4648_4657del
|
p.Thr1550ValfsTer7
|
- | 4.0 |
|
B | |
| 8839 | chr14 | 95096308 | C | T |
c.4612G>A
|
p.Asp1538Asn
|
- | 3.0 |
|
B | |
| 2915 | chr14 | 95096641 | G | A |
c.4279C>T
|
p.Leu1427=
|
- | 2.5 |
|
B | |
| 10133 | chr14 | 95096647 | C | G |
c.4273G>C
|
p.Glu1425Gln
|
- | 3.0 |
|
B | |
| 4187 | chr14 | 95103365 | G | A |
c.4031C>T
|
p.Ser1344Leu
|
4.0 |
|
B | ||
| 6504 | chr14 | 95103787 | A | C |
c.3609T>G
|
p.Asn1203Lys
|
- | 3.0 |
|
B | |
| 8137 | chr14 | 95103843 | C | T |
c.3553G>A
|
p.Ala1185Thr
|
2.5 |
|
B | ||
| 24704 | chr14 | 95103879 | T | C |
c.3517A>G
|
p.Thr1173Ala
|
- | 3.0 |
|
B |