Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3247 | chr1 | 11795246 | G | A |
c.883C>T
|
p.Arg295Cys
|
3.0 |
|
B | ||
| 3350 | chr1 | 11795258 | C | T |
c.871G>A
|
p.Asp291Asn
|
3.0 |
|
B | ||
| 33605 | chr1 | 11796321 | G | A |
c.665C>T
|
p.Ala222Val
|
3.0 |
|
B | ||
| 674 | chr1 | 11796393 | G | T |
c.593C>A
|
p.Pro198His
|
- | 3.0 |
|
B | |
| 24635 | chr1 | 11800287 | C | T |
c.511G>A
|
p.Gly171Ser
|
- | 3.0 |
|
B | |
| 3594 | chr1 | 11801202 | G | A |
-
c.434C>T
|
-
p.Ala145Val
|
- | 3.0 |
|
B | |
| 1361 | chr1 | 11801251 | T | A |
-
c.385A>T
|
-
p.Thr129Ser
|
- | 3.0 |
|
B | |
| 9036 | chr1 | 11801326 | C | T |
-
c.310G>A
|
-
p.Asp104Asn
|
- | 3.0 |
|
B | |
| 3021 | chr1 | 11801379 | C | T |
-
c.257G>A
|
-
p.Gly86Asp
|
- | 3.0 |
|
B | |
| 4801 | chr1 | 11801406 | G | A |
-
c.237-7C>T
|
-
-
|
- | 3.0 |
|
B | |
| 23351 | chr1 | 11802872 | T | G |
-
c.236+9A>C
|
-
-
|
2.0 |
|
B | ||
| 12612 | chr1 | 11802884 | G | T |
-
c.233C>A
|
-
p.Ser78Ter
|
- | 3.0 |
|
B | |
| 5322 | chr1 | 11802957 | C | A |
-
c.160G>T
|
-
p.Glu54Ter
|
- | 3.0 |
|
B | |
| 5323 | chr1 | 11802958 | C | A |
-
c.159G>T
|
-
p.Leu53Phe
|
- | 3.0 |
|
B | |
| 30840 | chr1 | 11802978 | C | G |
-
c.139G>C
|
-
p.Glu47Gln
|
- | 3.0 |
|
B | |
| 34412 | chr1 | 11803393 | G | T |
-
c.-13-264C>A
|
-
-
|
- | 3.0 |
|
B | |
| 3351 | chr1 | 12838482 | C | T |
n.1337+1G>A
|
-
|
3.0 |
|
B | ||
| 10435 | chr1 | 13115626 | TATC | T |
c.772_774del
|
p.Asp258del
|
- | 3.0 |
|
B | |
| 18535 | chr1 | 13115635 | C | T |
c.766G>A
|
p.Asp256Asn
|
3.0 |
|
B | ||
| 19359 | chr1 | 13782253 | CA | C |
c.4467del
|
p.Val1490PhefsTer74
|
4.0 |
|
B |