Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22995 | chr11 | 69643889 | C | T |
c.472C>T
|
p.His158Tyr
|
3.0 |
|
B | ||
| 9995 | chr11 | 69648033 | C | T |
c.614C>T
|
p.Ala205Val
|
3.0 |
|
B | ||
| 22355 | chr11 | 69648120 | C | T |
c.701C>T
|
p.Ser234Phe
|
- | 3.0 |
|
B | |
| 24351 | chr11 | 69651254 | C | T |
c.860C>T
|
p.Pro287Leu
|
- | 3.5 |
|
B | |
| 7913 | chr11 | 69651265 | C | T |
c.871C>T
|
p.Arg291Trp
|
3.0 |
|
B | ||
| 17585 | chr11 | 69699299 | C | T |
c.614G>A
|
p.Gly205Glu
|
3.0 |
|
B | ||
| 16341 | chr11 | 69699488 | G | A |
c.425C>T
|
p.Pro142Leu
|
3.0 |
|
B | ||
| 13988 | chr11 | 69699509 | C | A |
c.404G>T
|
p.Arg135Leu
|
- | 3.0 |
|
B | |
| 30627 | chr11 | 69699551 | G | A |
c.362C>T
|
p.Ala121Val
|
- | 3.0 |
|
B | |
| 17498 | chr11 | 69703281 | C | T |
c.316G>A
|
p.Asp106Asn
|
3.0 |
|
B | ||
| 16450 | chr11 | 69703310 | TGCACGCCCTTGATGGCCACGGTCCGCAGA | T |
c.258_286del
|
p.Leu87GlnfsTer81
|
- | 3.0 |
|
B | |
| 31443 | chr11 | 69703625 | G | C |
c.232+20C>G
|
-
|
- | 3.0 |
|
B | |
| 13491 | chr11 | 69703632 | G | T |
c.232+13C>A
|
-
|
- | 3.0 |
|
B | |
| 31365 | chr11 | 69703863 | C | A |
c.14G>T
|
p.Cys5Phe
|
3.0 |
|
B | ||
| 25736 | chr11 | 69773313 | A | C |
c.617T>G
|
p.Leu206Arg
|
- | 3.0 |
|
B | |
| 17796 | chr11 | 69773353 | C | T |
c.577G>A
|
p.Val193Met
|
- | 3.0 |
|
B | |
| 5453 | chr11 | 69773427 | G | A |
c.503C>T
|
p.Ala168Val
|
- | 3.0 |
|
B | |
| 34031 | chr11 | 69774010 | C | A |
c.444+14G>T
|
-
|
- | 3.0 |
|
B | |
| 14134 | chr11 | 69774024 | C | T |
c.444G>A
|
p.Ser148=
|
- | 3.0 |
|
B | |
| 2498 | chr11 | 69774040 | C | G |
c.428G>C
|
p.Gly143Ala
|
- | 3.0 |
|
B |