Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1061 | chr6 | 137878973 | C | G |
c.1528C>G
|
p.Pro510Ala
|
- | 3.0 |
|
B | |
| 16396 | chr6 | 137879071 | G | T |
c.1626G>T
|
p.Arg542Ser
|
- | 3.0 |
|
B | |
| 1062 | chr6 | 137879079 | C | A |
c.1634C>A
|
p.Ala545Glu
|
- | 3.0 |
|
B | |
| 6606 | chr6 | 137879120 | T | G |
c.1675T>G
|
p.Cys559Gly
|
3.0 |
|
B | ||
| 4962 | chr6 | 137879332 | C | T |
c.1887C>T
|
p.Ile629=
|
3.0 |
|
B | ||
| 17973 | chr6 | 137879361 | G | A |
c.1906+10G>A
|
-
|
3.0 |
|
B | ||
| 1063 | chr6 | 137880111 | C | T |
c.1947C>T
|
p.Ser649=
|
3.0 |
|
B | ||
| 5874 | chr6 | 137880113 | G | T |
c.1949G>T
|
p.Arg650Met
|
3.0 |
|
B | ||
| 32552 | chr6 | 137881060 | C | G |
c.2114C>G
|
p.Pro705Arg
|
- | 3.0 |
|
B | |
| 2062 | chr6 | 137881177 | G | A |
c.2231G>A
|
p.Gly744Asp
|
2.5 |
|
B | ||
| 2063 | chr6 | 137881179 | C | T |
c.2233C>T
|
p.Pro745Ser
|
3.0 |
|
B | ||
| 4427 | chr6 | 137881192 | G | A |
c.2246G>A
|
p.Arg749Gln
|
2.5 |
|
B | ||
| 10724 | chr6 | 137881215 | C | T |
c.2269C>T
|
p.Pro757Ser
|
3.0 |
|
B | ||
| 19474 | chr6 | 138776192 | CA | C |
c.80del
|
p.Asn27MetfsTer5
|
3.0 |
|
B | ||
| 15498 | chr6 | 138814572 | A | AT |
c.155dup
|
p.Leu52PhefsTer5
|
3.5 |
|
B | ||
| 12168 | chr6 | 138838398 | G | A |
c.226G>A
|
p.Asp76Asn
|
- | 3.0 |
|
B | |
| 7705 | chr6 | 138838435 | A | G |
c.263A>G
|
p.Tyr88Cys
|
- | 3.0 |
|
B | |
| 1024 | chr6 | 138838482 | G | T |
c.310G>T
|
p.Val104Phe
|
- | 3.0 |
|
B | |
| 30985 | chr6 | 138846572 | A | C |
c.798A>C
|
p.Leu266Phe
|
- | 3.0 |
|
B | |
| 941 | chr6 | 138846661 | G | A |
c.887G>A
|
p.Arg296Gln
|
3.0 |
|
B |