Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10037 | chr5 | 150143726 | G | C |
c.-6-6673C>G
|
-
|
- | 3.0 |
|
B | |
| 3913 | chr5 | 150151622 | T | G |
c.-7+3775A>C
|
-
|
3.0 |
|
B | ||
| 15705 | chr5 | 150151651 | GT | G |
c.-7+3745del
|
-
|
- | 3.0 |
|
B | |
| 13452 | chr5 | 150151962 | T | C |
c.-7+3435A>G
|
-
|
- | 3.0 |
|
B | |
| 15404 | chr5 | 150152049 | G | GGCGT |
c.-7+3347_-7+3348insACGC
|
-
|
- | 3.0 |
|
B | |
| 14264 | chr5 | 150152062 | ACGTC | A |
c.-7+3331_-7+3334del
|
-
|
- | 3.0 |
|
B | |
| 14265 | chr5 | 150152068 | G | GCCCA |
c.-7+3328_-7+3329insTGGG
|
-
|
- | 3.0 |
|
B | |
| 12601 | chr5 | 150152107 | A | G |
c.-7+3290T>C
|
-
|
3.0 |
|
B | ||
| 15181 | chr5 | 150152523 | G | C |
c.-7+2874C>G
|
-
|
- | 3.0 |
|
B | |
| 21752 | chr5 | 150153597 | G | A |
c.-7+1800C>T
|
-
|
- | 3.0 |
|
B | |
| 13042 | chr5 | 150154013 | G | A |
c.-7+1384C>T
|
-
|
3.0 |
|
B | ||
| 10972 | chr5 | 150154393 | T | G |
c.-7+1004A>C
|
-
|
1.0 |
|
B | ||
| 10973 | chr5 | 150154413 | G | T |
c.-7+984C>A
|
-
|
1.0 |
|
B | ||
| 11038 | chr5 | 150154833 | T | A |
c.-7+564A>T
|
-
|
3.0 |
|
B | ||
| 3264 | chr5 | 150167207 | CTCCTGGCGCAGCCCCT | C |
c.332_347del
|
p.Leu111ProfsTer83
|
- | 3.0 |
|
B | |
| 3263 | chr5 | 150167224 | C | CCCGAGGGGCTGCGCCA |
c.348_349insCCGAGGGGCTGCGCCA
|
p.Gly117ProfsTer39
|
- | 3.0 |
|
B | |
| 35549 | chr5 | 150250729 | G | A |
c.775C>T
|
p.Arg259Cys
|
- | 3.0 |
|
B | |
| 27115 | chr5 | 150402645 | C | T |
-
c.818-20G>A
|
-
-
|
- | 3.0 |
|
B | |
| 30307 | chr5 | 150405171 | G | T |
-
c.451C>A
|
-
p.Pro151Thr
|
- | 3.0 |
|
B | |
| 16124 | chr5 | 150405176 | GCATTCTACAGGGTAGCAGGGCAGGAAGGATGGTT | G |
-
c.442-30_445del
|
-
p.?
|
- | 3.0 |
|
B |