Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24228 | chr6 | 33319619 | A | C |
c.1701T>G
-
-
|
p.Phe567Leu
-
-
|
- | 3.0 |
|
B | |
| 9376 | chr6 | 33319677 | T | C |
c.1643A>G
-
-
|
p.Asn548Ser
-
-
|
3.0 |
|
B | ||
| 9712 | chr6 | 33319783 | G | C |
c.1537C>G
-
-
|
p.Gln513Glu
-
-
|
- | 3.0 |
|
B | |
| 28883 | chr6 | 33319831 | TG | T |
c.1488del
-
-
|
p.Met497CysfsTer31
-
-
|
- | 4.0 |
|
B | |
| 14104 | chr6 | 33319858 | G | A |
c.1466-4C>T
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 10128 | chr6 | 33320079 | TCCTCCTCCTCTTCAGAATCTGTGG | T |
c.1373_1396del
-
-
|
p.Ala458_Glu465del
-
-
|
- | 3.0 |
|
B | |
| 18231 | chr6 | 33320105 | CTCCTCCTCTTCTTCT | C |
c.1356_1370del
-
-
|
p.Glu453_Glu457del
-
-
|
- | 3.0 |
|
B | |
| 8805 | chr6 | 33320203 | G | A |
c.1273C>T
-
-
|
p.Gln425Ter
-
-
|
- | 4.0 |
|
B | |
| 33713 | chr6 | 33320379 | C | T |
c.1251+1G>A
-
-
|
p.?
-
-
|
- | 4.0 |
|
B | |
| 1750 | chr6 | 33320537 | C | T |
c.1094G>A
-
-
|
p.Arg365Gln
-
-
|
3.0 |
|
B | ||
| 17556 | chr6 | 33320590 | G | A |
c.1041C>T
-
-
|
p.Gly347=
-
-
|
3.0 |
|
B | ||
| 32201 | chr6 | 33320754 | T | A |
c.1021A>T
-
-
|
p.Thr341Ser
-
-
|
- | 3.0 |
|
B | |
| 8701 | chr6 | 33320940 | C | A |
c.835G>T
-
-
|
p.Gly279Trp
-
-
|
- | 3.0 |
|
B | |
| 9777 | chr6 | 33320958 | G | A |
c.817C>T
-
-
|
p.Arg273Trp
-
-
|
3.0 |
|
B | ||
| 29212 | chr6 | 33321000 | A | C |
c.775T>G
-
-
|
p.Tyr259Asp
-
-
|
- | 3.0 |
|
B | |
| 29102 | chr6 | 33321063 | G | A |
c.712C>T
-
-
|
p.Arg238Ter
-
-
|
4.0 |
|
B | ||
| 26332 | chr6 | 33321233 | G | C |
c.542C>G
-
-
|
p.Thr181Ser
-
-
|
- | 3.0 |
|
B | |
| 14505 | chr6 | 33321239 | G | A |
c.536C>T
-
-
|
p.Pro179Leu
-
-
|
3.0 |
|
B | ||
| 18828 | chr6 | 33321261 | C | A |
c.514G>T
-
-
|
p.Glu172Ter
-
-
|
- | 4.0 |
|
B | |
| 5727 | chr6 | 33321498 | G | T |
c.277C>A
-
-
|
p.Gln93Lys
-
-
|
- | 3.0 |
|
B |