Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22694 | chr6 | 26225487 | C | A |
c.333C>A
|
p.Cys111Ter
|
- | 3.0 |
|
B | |
| 6352 | chr6 | 26271063 | T | C |
c.322A>G
-
|
p.Thr108Ala
-
|
3.0 |
|
B | ||
| 8162 | chr6 | 26271104 | T | C |
c.281A>G
-
|
p.Gln94Arg
-
|
- | 3.0 |
|
B | |
| 11616 | chr6 | 26271228 | G | C |
c.157C>G
-
|
p.Arg53Gly
-
|
- | 3.0 |
|
B | |
| 13170 | chr6 | 26271297 | C | G |
c.88G>C
-
|
p.Ala30Pro
-
|
- | 3.0 |
|
B | |
| 3817 | chr6 | 26271310 | C | T |
c.75G>A
-
|
p.Ala25=
-
|
3.0 |
|
B | ||
| 12997 | chr6 | 26271367 | C | A |
c.18G>T
-
|
p.Gln6His
-
|
3.0 |
|
B | ||
| 28856 | chr6 | 27139538 | C | T |
c.230C>T
|
p.Ala77Val
|
- | 3.0 |
|
B | |
| 21862 | chr6 | 27139581 | C | G |
c.273C>G
|
p.Leu91=
|
3.0 |
|
B | ||
| 35385 | chr6 | 27139595 | G | A |
c.287G>A
|
p.Arg96His
|
- | 3.0 |
|
B | |
| 33007 | chr6 | 27807838 | C | G |
-
-
c.69G>C
|
-
-
p.Gln23His
|
- | 3.0 |
|
B | |
| 15514 | chr6 | 27810200 | C | T |
c.127C>T
-
-
-
-
|
p.Arg43Trp
-
-
-
-
|
- | 3.0 |
|
B | |
| 15448 | chr6 | 27810357 | AGGCATGCGAGGCCTACCTGGTGG | A |
c.288_310del
-
-
-
-
|
p.Cys97LeufsTer2
-
-
-
-
|
- | 3.0 |
|
B | |
| 13490 | chr6 | 27810403 | G | C |
c.330G>C
-
-
-
-
|
p.Leu110=
-
-
-
-
|
- | 3.0 |
|
B | |
| 35485 | chr6 | 27814519 | G | C |
-
c.222C>G
-
|
-
p.Asn74Lys
-
|
3.0 |
|
B | ||
| 4831 | chr6 | 27838004 | G | C |
c.336C>G
-
|
p.Ile112Met
-
|
- | 3.0 |
|
B | |
| 2425 | chr6 | 27871927 | C | T |
-
c.389G>A
-
|
-
p.Arg130His
-
|
- | 3.0 |
|
B | |
| 13299 | chr6 | 27872011 | A | G |
-
c.305T>C
-
|
-
p.Val102Ala
-
|
- | 3.0 |
|
B | |
| 10568 | chr6 | 27872084 | C | T |
-
c.232G>A
-
|
-
p.Asp78Asn
-
|
3.0 |
|
B | ||
| 34587 | chr6 | 27872214 | ACCGGTGGCCGGAGCGCTCTTGCGAGCCGCCTTGGTGGCCAGCTGCTTGCGCGGCGCTTTGCCG | A |
-
c.39_101del
-
|
-
p.Lys15_Gly35del
-
|
- | 3.0 |
|
B |