Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11345 | chr20 | 63534317 | T | G |
-
c.353-2A>C
|
-
p.?
|
- | 3.0 |
|
B | |
| 16992 | chr20 | 63534991 | C | T |
-
c.299G>A
|
-
p.Gly100Asp
|
- | 3.0 |
|
B | |
| 25256 | chr20 | 63537184 | C | A |
-
c.131G>T
|
-
p.Trp44Leu
|
- | 3.0 |
|
B | |
| 33805 | chr20 | 63541449 | C | T |
c.1118G>A
-
|
p.Arg373Gln
-
|
3.0 |
|
B | ||
| 3756 | chr20 | 63563894 | T | TCGGCGTTCGGCCGCTGCGC |
c.4927_4928insGCGCAGCGGCCGAACGCCG
|
p.Glu1643GlyfsTer131
|
- | 3.0 |
|
B | |
| 15854 | chr20 | 63701879 | G | A |
-
c.368C>T
|
-
p.Ala123Val
|
3.0 |
|
B | ||
| 19276 | chr20 | 63702160 | G | C |
-
c.322C>G
|
-
p.Leu108Val
|
- | 3.0 |
|
B | |
| 7610 | chr20 | 63702213 | T | G |
-
c.269A>C
|
-
p.Tyr90Ser
|
- | 3.0 |
|
B | |
| 9389 | chr20 | 63707041 | C | G |
-
c.51G>C
|
-
p.Glu17Asp
|
- | 3.0 |
|
B | |
| 9052 | chr20 | 63707052 | G | A |
-
c.40C>T
|
-
p.Gln14Ter
|
- | 3.0 |
|
B | |
| 17600 | chr20 | 63707066 | T | A |
-
c.26A>T
|
-
p.Tyr9Phe
|
- | 3.0 |
|
B | |
| 33413 | chr20 | 63707075 | G | A |
-
c.17C>T
|
-
p.Ser6Leu
|
- | 3.0 |
|
B | |
| 17067 | chr20 | 63707079 | G | C |
-
c.13C>G
|
-
p.Leu5Val
|
- | 3.0 |
|
B | |
| 5234 | chr20 | 63742421 | G | A |
-
c.766G>A
-
|
-
p.Gly256Arg
-
|
3.0 |
|
B | ||
| 5235 | chr20 | 63742422 | G | A |
-
c.767G>A
-
|
-
p.Gly256Glu
-
|
- | 3.0 |
|
B | |
| 3757 | chr20 | 64219987 | G | C |
c.2241+5G>C
|
-
|
- | 3.0 |
|
B | |
| 32677 | chr21 | 10521558 | C | A |
-
|
-
|
3.0 |
|
B | ||
| 13409 | chr21 | 10538746 | G | A |
c.11+12G>A
|
-
|
3.0 |
|
B | ||
| 22972 | chr21 | 10541116 | G | A |
c.16G>A
|
p.Asp6Asn
|
3.0 |
|
B | ||
| 29034 | chr21 | 10541132 | C | T |
c.32C>T
|
p.Ala11Val
|
3.0 |
|
B |