Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20405 | chr16 | 15708829 | TG | T |
c.5787-4707del
c.947+11977del
|
-
-
|
4.0 |
|
B | ||
| 22809 | chr16 | 15714910 | T | G |
c.5785A>C
c.948-9281T>G
|
p.Arg1929=
-
|
3.0 |
|
B | ||
| 28373 | chr16 | 15715012 | G | A |
c.5683C>T
c.948-9179G>A
|
p.Arg1895Cys
-
|
3.0 |
|
B | ||
| 23700 | chr16 | 15715181 | C | T |
c.5596G>A
c.948-9010C>T
|
p.Glu1866Lys
-
|
3.0 |
|
B | ||
| 16819 | chr16 | 15715287 | G | A |
c.5505-15C>T
c.948-8904G>A
|
-
-
|
- | 3.0 |
|
B | |
| 34636 | chr16 | 15717285 | G | A |
c.5359C>T
c.948-6906G>A
|
p.Arg1787Trp
-
|
3.0 |
|
B | ||
| 31789 | chr16 | 15719242 | G | T |
c.5149C>A
c.948-4949G>T
|
p.Leu1717Met
-
|
3.0 |
|
B | ||
| 14304 | chr16 | 15719714 | C | T |
c.4954-1G>A
c.948-4477C>T
|
p.?
-
|
- | 3.5 |
|
B | |
| 25254 | chr16 | 15720294 | C | G |
c.4810G>C
c.948-3897C>G
|
p.Glu1604Gln
-
|
- | 3.0 |
|
B | |
| 16820 | chr16 | 15720976 | C | T |
c.4654G>A
c.948-3215C>T
|
p.Glu1552Lys
-
|
3.0 |
|
B | ||
| 23905 | chr16 | 15721447 | C | T |
c.4553G>A
c.948-2744C>T
|
p.Ser1518Asn
-
|
3.0 |
|
B | ||
| 25073 | chr16 | 15721489 | C | T |
c.4511G>A
c.948-2702C>T
|
p.Arg1504Gln
-
|
3.0 |
|
B | ||
| 16486 | chr16 | 15724319 | T | G |
c.4207A>C
c.*68T>G
|
p.Asn1403His
-
|
- | 3.0 |
|
B | |
| 9951 | chr16 | 15724690 | G | A |
c.4073C>T
c.*439G>A
|
p.Ala1358Val
-
|
- | 3.0 |
|
B | |
| 30515 | chr16 | 15724896 | C | T |
c.3955G>A
c.*645C>T
|
p.Asp1319Asn
-
|
- | 3.0 |
|
B | |
| 23602 | chr16 | 15732590 | T | G |
c.3625A>C
|
p.Thr1209Pro
|
- | 3.0 |
|
B | |
| 12201 | chr16 | 15732662 | C | T |
c.3553G>A
|
p.Glu1185Lys
|
- | 3.0 |
|
B | |
| 22678 | chr16 | 15735367 | T | G |
c.3505A>C
|
p.Arg1169=
|
2.5 |
|
B | ||
| 22208 | chr16 | 15735486 | G | C |
c.3386C>G
|
p.Ser1129Ter
|
- | 3.5 |
|
B | |
| 17922 | chr16 | 15737617 | C | A |
c.3125G>T
|
p.Arg1042Leu
|
3.0 |
|
B |