Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31468 | chr3 | 49662175 | C | T |
c.10330C>T
|
p.Arg3444Trp
|
3.0 |
|
B | ||
| 19978 | chr3 | 49684303 | C | A |
-
c.2016+11G>T
|
-
-
|
- | 3.0 |
|
B | |
| 30098 | chr3 | 49684304 | T | TGGGCCA |
-
c.2016+9_2016+10insTGGCCC
|
-
-
|
- | 3.0 |
|
B | |
| 26174 | chr3 | 49685273 | G | T |
-
-
c.1533C>A
|
-
-
p.Ser511Arg
|
- | 3.0 |
|
B | |
| 19411 | chr3 | 49686158 | C | T |
-
-
c.1051G>A
|
-
-
p.Gly351Ser
|
3.0 |
|
B | ||
| 30355 | chr3 | 49686448 | G | C |
-
-
c.881C>G
|
-
-
p.Thr294Ser
|
3.0 |
|
B | ||
| 32910 | chr3 | 49686483 | T | G |
-
-
c.848-2A>C
|
-
-
p.?
|
3.5 |
|
B | ||
| 31456 | chr3 | 49686701 | C | T |
-
-
c.830G>A
|
-
-
p.Cys277Tyr
|
- | 3.0 |
|
B | |
| 30221 | chr3 | 49686958 | G | A |
-
-
c.717C>T
|
-
-
p.Phe239=
|
3.0 |
|
B | ||
| 16706 | chr3 | 49687438 | G | A |
-
-
c.396C>T
|
-
-
p.Tyr132=
|
3.0 |
|
B | ||
| 29200 | chr3 | 49687750 | C | T |
-
-
c.242G>A
|
-
-
p.Arg81Gln
|
3.0 |
|
B | ||
| 34819 | chr3 | 49688595 | T | C |
-
-
c.94+3A>G
|
-
-
-
|
1.0 |
|
B | ||
| 34238 | chr3 | 49688885 | T | C |
-
-
c.-194A>G
|
-
-
-
|
3.0 |
|
B | ||
| 21928 | chr3 | 49887377 | G | A |
c.4133C>T
|
p.Pro1378Leu
|
3.0 |
|
B | ||
| 13910 | chr3 | 49887509 | A | T |
c.4001T>A
|
p.Phe1334Tyr
|
- | 3.0 |
|
B | |
| 30145 | chr3 | 49890006 | G | A |
c.3865C>T
|
p.Arg1289Cys
|
3.0 |
|
B | ||
| 33316 | chr3 | 49890024 | G | A |
c.3847C>T
|
p.Arg1283Trp
|
3.0 |
|
B | ||
| 33161 | chr3 | 49890552 | C | T |
c.3743G>A
|
p.Arg1248His
|
3.0 |
|
B | ||
| 28352 | chr3 | 49891293 | T | C |
c.3548A>G
|
p.Lys1183Arg
|
- | 3.0 |
|
B | |
| 17568 | chr3 | 49895705 | G | A |
c.2962+10C>T
|
-
|
- | 3.0 |
|
B |