Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25222 | chr6 | 31269397 | C | CA |
c.1049-13dup
|
-
|
3.0 |
|
B | ||
| 18923 | chr6 | 31269502 | G | A |
c.1039C>T
|
p.Gln347Ter
|
- | 3.5 |
|
B | |
| 24074 | chr6 | 31269514 | C | T |
c.1027G>A
|
p.Gly343Arg
|
- | 3.0 |
|
B | |
| 22065 | chr6 | 31269990 | T | C |
c.991A>G
|
p.Met331Val
|
3.0 |
|
B | ||
| 22310 | chr6 | 31270095 | G | A |
c.896-10C>T
|
-
|
- | 3.0 |
|
B | |
| 22066 | chr6 | 31270233 | T | G |
c.872A>C
|
p.Gln291Pro
|
3.0 |
|
B | ||
| 31142 | chr6 | 31271273 | G | T |
c.419C>A
|
p.Ser140Tyr
|
2.5 |
|
B | ||
| 28511 | chr6 | 31271872 | G | A |
c.74-4C>T
|
-
|
2.5 |
|
B | ||
| 33771 | chr6 | 31272048 | G | A |
c.24C>T
|
p.Ala8=
|
2.0 |
|
B | ||
| 33394 | chr6 | 31272052 | C | T |
c.20G>A
|
p.Arg7Gln
|
2.0 |
|
B | ||
| 35596 | chr6 | 31272053 | G | A |
c.19C>T
|
p.Arg7Ter
|
3.5 |
|
B | ||
| 13089 | chr6 | 31355462 | C | A |
c.750G>T
|
p.Gln250His
|
- | 3.0 |
|
B | |
| 32019 | chr6 | 31355560 | T | C |
c.652A>G
|
p.Ile218Val
|
1.0 |
|
B | ||
| 32020 | chr6 | 31355564 | G | A |
c.648C>T
|
p.His216=
|
2.0 |
|
B | ||
| 10980 | chr6 | 31355747 | TCTC | T |
c.620-158_620-156del
|
-
|
2.0 |
|
B | ||
| 10981 | chr6 | 31355790 | G | A |
c.620-198C>T
|
-
|
2.0 |
|
B | ||
| 4375 | chr6 | 31356729 | C | T |
c.302G>A
|
p.Ser101Asn
|
1.0 |
|
B | ||
| 4376 | chr6 | 31356732 | T | A |
c.299A>T
|
p.Glu100Val
|
2.0 |
|
B | ||
| 7023 | chr6 | 31356797 | C | G |
c.234G>C
|
p.Gln78His
|
- | 3.0 |
|
B | |
| 7024 | chr6 | 31356799 | G | A |
c.232C>T
|
p.Gln78Ter
|
3.5 |
|
B |