Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34134 | chr3 | 38550839 | C | T |
c.5530G>A
|
p.Gly1844Arg
|
3.0 |
|
B | ||
| 12598 | chr3 | 38550857 | C | T |
c.5512G>A
|
p.Asp1838Asn
|
3.0 |
|
B | ||
| 12688 | chr3 | 38550968 | C | T |
c.5401G>A
|
p.Asp1801Asn
|
- | 3.0 |
|
B | |
| 17853 | chr3 | 38551034 | C | G |
c.5335G>C
|
p.Glu1779Gln
|
- | 3.0 |
|
B | |
| 25473 | chr3 | 38551133 | C | T |
c.5236G>A
|
p.Val1746Met
|
3.0 |
|
B | ||
| 20803 | chr3 | 38551138 | G | A |
c.5231C>T
|
p.Pro1744Leu
|
- | 3.0 |
|
B | |
| 20804 | chr3 | 38551140 | G | C |
c.5229C>G
|
p.Ser1743Arg
|
- | 3.0 |
|
B | |
| 18077 | chr3 | 38551153 | C | T |
c.5216G>A
|
p.Gly1739Glu
|
- | 3.0 |
|
B | |
| 19556 | chr3 | 38551156 | C | T |
c.5213G>A
|
p.Arg1738Gln
|
3.0 |
|
B | ||
| 12156 | chr3 | 38551157 | G | A |
c.5212C>T
|
p.Arg1738Trp
|
3.0 |
|
B | ||
| 33546 | chr3 | 38551238 | C | T |
c.5131G>A
|
p.Gly1711Ser
|
3.0 |
|
B | ||
| 35469 | chr3 | 38555661 | G | A |
c.4534C>T
|
p.Pro1512Ser
|
- | 3.0 |
|
B | |
| 22668 | chr3 | 38555692 | G | A |
c.4503C>T
|
p.Gly1501=
|
2.0 |
|
B | ||
| 15274 | chr3 | 38556436 | C | T |
c.4434+5G>A
|
-
|
3.0 |
|
B | ||
| 16585 | chr3 | 38556594 | C | T |
c.4297-16G>A
|
-
|
- | 3.0 |
|
B | |
| 25123 | chr3 | 38556595 | A | T |
c.4297-17T>A
|
-
|
- | 3.0 |
|
B | |
| 30044 | chr3 | 38557235 | C | G |
c.4292G>C
|
p.Arg1431Thr
|
- | 3.0 |
|
B | |
| 23770 | chr3 | 38557292 | G | A |
c.4243-8C>T
|
-
|
- | 3.0 |
|
B | |
| 22280 | chr3 | 38560128 | C | T |
c.4242+19G>A
|
-
|
2.0 |
|
B | ||
| 26068 | chr3 | 38560218 | C | T |
c.4171G>A
|
p.Glu1391Lys
|
- | 3.0 |
|
B |