Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5438 | chr6 | 26055950 | T | C |
c.479A>G
|
p.Lys160Arg
|
3.0 |
|
B | ||
| 4334 | chr6 | 26055961 | C | G |
c.468G>C
|
p.Lys156Asn
|
3.0 |
|
B | ||
| 1503 | chr6 | 26055982 | C | G |
c.447G>C
|
p.Lys149Asn
|
3.0 |
|
B | ||
| 21757 | chr6 | 26055995 | G | T |
c.434C>A
|
p.Ala145Glu
|
- | 3.0 |
|
B | |
| 35676 | chr6 | 26056021 | C | A |
c.408G>T
|
p.Lys136Asn
|
- | 3.0 |
|
B | |
| 17867 | chr6 | 26056061 | G | A |
c.368C>T
|
p.Ala123Val
|
3.0 |
|
B | ||
| 11615 | chr6 | 26056165 | C | T |
c.264G>A
|
p.Val88=
|
3.0 |
|
B | ||
| 25880 | chr6 | 26056245 | G | T |
c.184C>A
|
p.Leu62Met
|
3.0 |
|
B | ||
| 2656 | chr6 | 26056266 | TACGCTCTTTAG | T |
c.152_162del
|
p.Ser51Ter
|
- | 3.0 |
|
B | |
| 28975 | chr6 | 26056312 | CG | C |
c.116del
|
p.Pro39ArgfsTer24
|
- | 3.0 |
|
B | |
| 27613 | chr6 | 26056317 | G | C |
c.112C>G
|
p.Pro38Ala
|
3.0 |
|
B | ||
| 7391 | chr6 | 26056348 | C | G |
c.81G>C
|
p.Lys27Asn
|
3.0 |
|
B | ||
| 16083 | chr6 | 26056360 | C | G |
c.69G>C
|
p.Lys23Asn
|
3.0 |
|
B | ||
| 14733 | chr6 | 26056413 | G | A |
c.16C>T
|
p.Pro6Ser
|
3.0 |
|
B | ||
| 22734 | chr6 | 26056422 | C | T |
c.7G>A
|
p.Glu3Lys
|
- | 3.0 |
|
B | |
| 6246 | chr6 | 26056448 | G | C |
c.-20C>G
|
-
|
3.0 |
|
B | ||
| 1521 | chr6 | 26087438 | G | A |
c.-3G>A
|
-
|
3.0 |
|
B | ||
| 24974 | chr6 | 26087516 | C | T |
c.76C>T
|
p.Arg26Cys
|
3.0 |
|
B | ||
| 2597 | chr6 | 26090897 | T | C |
c.133T>C
|
p.Ser45Pro
|
3.0 |
|
B | ||
| 28847 | chr6 | 26090908 | A | G |
c.144A>G
|
p.Glu48=
|
- | 3.0 |
|
B |