Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17478 | chr6 | 167010799 | C | T |
c.439-14C>T
|
-
|
- | 3.0 |
|
B | |
| 20743 | chr6 | 167022436 | G | A |
c.607G>A
|
p.Asp203Asn
|
3.0 |
|
B | ||
| 15185 | chr6 | 167022496 | G | A |
c.667G>A
|
p.Glu223Lys
|
- | 3.0 |
|
B | |
| 14459 | chr6 | 167026573 | G | T |
c.946G>T
|
p.Asp316Tyr
|
- | 3.0 |
|
B | |
| 25478 | chr6 | 167033857 | TTC | T |
c.1029-17_1029-16del
|
-
|
- | 3.0 |
|
B | |
| 15186 | chr6 | 167039907 | G | A |
c.1129G>A
|
p.Asp377Asn
|
- | 3.0 |
|
B | |
| 22574 | chr6 | 167864628 | G | T |
c.183G>T
|
p.Arg61=
|
3.0 |
|
B | ||
| 28752 | chr6 | 167864715 | G | T |
c.270G>T
|
p.Lys90Asn
|
- | 3.0 |
|
B | |
| 33694 | chr6 | 167870413 | C | A |
c.329C>A
|
p.Pro110His
|
- | 3.0 |
|
B | |
| 32698 | chr6 | 167870485 | C | T |
c.401C>T
|
p.Ala134Val
|
- | 3.0 |
|
B | |
| 13541 | chr6 | 167889224 | C | T |
c.907C>T
|
p.Pro303Ser
|
- | 3.0 |
|
B | |
| 14600 | chr6 | 167890876 | C | T |
c.1024C>T
|
p.Gln342Ter
|
- | 3.5 |
|
B | |
| 30833 | chr6 | 167890982 | C | T |
c.1130C>T
|
p.Ser377Phe
|
3.0 |
|
B | ||
| 35648 | chr6 | 167890993 | C | T |
c.1141C>T
|
p.Pro381Ser
|
- | 3.0 |
|
B | |
| 20981 | chr6 | 167896913 | C | T |
c.1258C>T
|
p.Arg420Cys
|
3.0 |
|
B | ||
| 14724 | chr6 | 167898399 | G | C |
c.1512G>C
|
p.Gln504His
|
- | 3.0 |
|
B | |
| 23478 | chr6 | 167914176 | G | C |
c.2067G>C
|
p.Lys689Asn
|
- | 3.0 |
|
B | |
| 32268 | chr6 | 167914676 | A | G |
c.2237A>G
|
p.Asn746Ser
|
3.0 |
|
B | ||
| 12907 | chr6 | 167922973 | G | T |
c.3012+14G>T
|
-
|
- | 3.0 |
|
B | |
| 27144 | chr6 | 167944042 | C | T |
c.3341C>T
|
p.Ser1114Phe
|
- | 3.0 |
|
B |