Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4704 | chr11 | 108333936 | G | C |
c.7978G>C
|
p.Glu2660Gln
|
- | 3.0 |
|
B | |
| 28811 | chr11 | 108335018 | A | T |
c.8060A>T
|
p.Lys2687Ile
|
- | 3.0 |
|
B | |
| 10643 | chr11 | 108335029 | C | T |
c.8071C>T
|
p.Arg2691Cys
|
3.5 |
|
B | ||
| 8255 | chr11 | 108335101 | C | T |
c.8143C>T
|
p.Leu2715Phe
|
3.0 |
|
B | ||
| 8999 | chr11 | 108335851 | G | T |
c.8158G>T
|
p.Asp2720Tyr
|
- | 3.5 |
|
B | |
| 437 | chr11 | 108335932 | A | T |
c.8239A>T
|
p.Lys2747Ter
|
- | 5.0 |
|
B | |
| 32287 | chr11 | 108335958 | T | G |
c.8265T>G
|
p.Tyr2755Ter
|
4.5 |
|
B | ||
| 11256 | chr11 | 108343277 | C | T |
c.8324C>T
|
p.Pro2775Leu
|
3.0 |
|
B | ||
| 32821 | chr11 | 108345806 | C | T |
c.8482C>T
|
p.Gln2828Ter
|
4.5 |
|
B | ||
| 28035 | chr11 | 108345841 | C | A |
c.8517C>A
|
p.Phe2839Leu
|
3.0 |
|
B | ||
| 31854 | chr11 | 108345869 | C | T |
c.8545C>T
|
p.Arg2849Ter
|
4.5 |
|
B | ||
| 23841 | chr11 | 108345870 | G | A |
c.8546G>A
|
p.Arg2849Gln
|
3.0 |
|
B | ||
| 28321 | chr11 | 108345879 | A | G |
c.8555A>G
|
p.Tyr2852Cys
|
3.0 |
|
B | ||
| 2674 | chr11 | 108345893 | G | C |
c.8569G>C
|
p.Ala2857Pro
|
- | 3.0 |
|
B | |
| 2283 | chr11 | 108345909 | G | A |
c.8584+1G>A
|
p.?
|
4.0 |
|
B | ||
| 642 | chr11 | 108347318 | A | G |
c.8624A>G
|
p.Asn2875Ser
|
3.0 |
|
B | ||
| 21527 | chr11 | 108353772 | C | T |
c.8678C>T
|
p.Ala2893Val
|
3.0 |
|
B | ||
| 438 | chr11 | 108353881 | G | C |
c.8786+1G>C
|
p.?
|
4.67 |
|
A | ||
| 16129 | chr11 | 108353885 | G | A |
c.8786+5G>A
|
-
|
- | 3.0 |
|
B | |
| 12432 | chr11 | 108353888 | A | C |
c.8786+8A>C
|
-
|
1.5 |
|
B |