Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23016 | chr1 | 27362155 | C | T |
c.1351G>A
|
p.Ala451Thr
|
3.0 |
|
B | ||
| 26685 | chr1 | 27362252 | T | C |
c.1256-2A>G
|
p.?
|
2.0 |
|
B | ||
| 14887 | chr1 | 27363973 | C | T |
c.808G>A
|
p.Glu270Lys
|
- | 3.0 |
|
B | |
| 18043 | chr1 | 27364192 | G | A |
c.695+12C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 26861 | chr1 | 27364400 | G | T |
c.505-6C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 35670 | chr1 | 27364642 | A | C |
c.504+19T>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 13132 | chr1 | 27364910 | C | T |
c.343G>A
-
|
p.Val115Met
-
|
3.0 |
|
B | ||
| 22071 | chr1 | 27366255 | C | G |
c.340+3G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 34449 | chr1 | 27366310 | G | T |
c.288C>A
-
|
p.Phe96Leu
-
|
- | 3.0 |
|
B | |
| 4617 | chr1 | 27374726 | A | T |
c.91+2T>A
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 3368 | chr1 | 27615715 | G | A |
c.812C>T
|
p.Thr271Ile
|
- | 3.0 |
|
B | |
| 21093 | chr1 | 27989762 | TTCTGCTCTTAATC | T |
c.1340_1352del
|
p.Arg447LysfsTer5
|
- | 3.0 |
|
B | |
| 4578 | chr1 | 28459218 | GA | G |
c.160del
|
p.Ser54ValfsTer12
|
3.0 |
|
B | ||
| 9880 | chr1 | 28459226 | A | T |
c.158A>T
|
p.Lys53Ile
|
- | 3.0 |
|
B | |
| 3598 | chr1 | 29148664 | C | CGTGTCAAA |
c.1230_1231insTTTGACAC
|
p.Val411PhefsTer106
|
- | 3.0 |
|
B | |
| 34413 | chr1 | 30878663 | A | C |
c.216T>G
|
p.Asp72Glu
|
- | 3.0 |
|
B | |
| 5146 | chr1 | 32169985 | C | G |
c.1348C>G
|
p.Arg450Gly
|
- | 3.0 |
|
B | |
| 13576 | chr1 | 32206781 | A | C |
c.439+20A>C
-
-
|
-
-
-
|
3.0 |
|
B | ||
| 34125 | chr1 | 32274324 | G | T |
c.-5-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 15159 | chr1 | 32274819 | G | T |
c.187+1G>T
|
p.?
|
- | 3.0 |
|
B |