Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21588 | chr1 | 176085771 | T | A |
c.1141+5A>T
|
-
|
3.0 |
|
B | ||
| 7247 | chr1 | 176085775 | C | A |
c.1141+1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 12873 | chr1 | 176085785 | G | A |
c.1132C>T
|
p.Arg378Cys
|
3.0 |
|
B | ||
| 30067 | chr1 | 176116637 | C | T |
c.1013G>A
|
p.Ser338Asn
|
- | 3.0 |
|
B | |
| 33005 | chr1 | 176135072 | T | A |
c.906A>T
|
p.Leu302Phe
|
- | 3.0 |
|
B | |
| 14374 | chr1 | 176136540 | T | C |
c.839A>G
|
p.Glu280Gly
|
- | 3.0 |
|
B | |
| 15014 | chr1 | 176136560 | TAGAG | T |
c.832-17_832-14del
|
-
|
3.0 |
|
B | ||
| 35207 | chr1 | 176162975 | C | T |
c.656G>A
|
p.Trp219Ter
|
- | 3.5 |
|
B | |
| 12701 | chr1 | 176175991 | G | A |
c.484C>T
|
p.Gln162Ter
|
- | 3.5 |
|
B | |
| 17733 | chr1 | 176176016 | AG | A |
c.468-10del
|
-
|
3.0 |
|
B | ||
| 30729 | chr1 | 176176023 | G | A |
c.468-16C>T
|
-
|
3.0 |
|
B | ||
| 12702 | chr1 | 176176023 | GA | G |
c.468-17del
|
-
|
3.0 |
|
B | ||
| 11736 | chr1 | 176176024 | A | G |
c.468-17T>C
|
-
|
3.0 |
|
B | ||
| 33093 | chr1 | 176206743 | C | A |
c.236G>T
|
p.Gly79Val
|
3.0 |
|
B | ||
| 8995 | chr1 | 176206806 | G | A |
c.173C>T
|
p.Ser58Leu
|
3.0 |
|
B | ||
| 4193 | chr1 | 176206893 | G | C |
c.86C>G
|
p.Ser29Trp
|
- | 3.0 |
|
B | |
| 4476 | chr1 | 176793651 | G | A |
c.5112G>A
|
p.Met1704Ile
|
- | 3.0 |
|
B | |
| 5693 | chr1 | 179108153 | C | A |
c.3114G>T
|
p.Arg1038Ser
|
- | 3.0 |
|
B | |
| 18261 | chr1 | 179108182 | C | T |
c.3085G>A
|
p.Ala1029Thr
|
3.0 |
|
B | ||
| 7590 | chr1 | 179108349 | T | C |
c.2918A>G
|
p.Asp973Gly
|
- | 3.0 |
|
B |