Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28502 | chr3 | 36993414 | C | T |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 20993 | chr3 | 36993609 | C | T |
c.62C>T
-
|
p.Ala21Val
-
|
4.0 |
|
B | ||
| 15797 | chr3 | 36993664 | G | A |
c.116+1G>A
-
|
p.?
-
|
4.5 |
|
B | ||
| 19406 | chr3 | 36993677 | C | T |
c.116+14C>T
-
|
-
-
|
- | 2.5 |
|
B | |
| 2262 | chr3 | 36996627 | CA | C |
c.129del
-
|
p.Lys43AsnfsTer7
-
|
4.0 |
|
B | ||
| 15561 | chr3 | 36996657 | A | G |
c.155A>G
-
|
p.Lys52Arg
-
|
- | 3.0 |
|
B | |
| 4270 | chr3 | 36996683 | A | G |
c.181A>G
-
|
p.Ile61Val
-
|
3.0 |
|
B | ||
| 31994 | chr3 | 37000952 | CAG | C |
c.208-1_208del
|
p.?
|
4.0 |
|
B | ||
| 2342 | chr3 | 37001015 | G | A |
c.268G>A
|
p.Asp90Asn
|
3.0 |
|
B | ||
| 6443 | chr3 | 37001024 | A | G |
c.277A>G
|
p.Ser93Gly
|
2.0 |
|
B | ||
| 4995 | chr3 | 37001037 | ATG | A |
c.291_292del
|
p.Tyr97Ter
|
- | 4.0 |
|
B | |
| 25941 | chr3 | 37004432 | T | C |
c.338T>C
|
p.Val113Ala
|
- | 3.0 |
|
B | |
| 19909 | chr3 | 37008823 | C | CT |
c.469dup
|
p.Tyr157LeufsTer15
|
4.0 |
|
B | ||
| 16172 | chr3 | 37011862 | AG | A |
c.588+1del
|
p.?
|
4.0 |
|
B | ||
| 7591 | chr3 | 37012048 | A | G |
c.626A>G
|
p.Asn209Ser
|
2.5 |
|
B | ||
| 9820 | chr3 | 37012072 | G | A |
c.650G>A
|
p.Arg217His
|
2.5 |
|
B | ||
| 6042 | chr3 | 37012075 | C | T |
c.653C>T
|
p.Ser218Phe
|
3.0 |
|
B | ||
| 155 | chr3 | 37017508 | C | T |
c.793C>T
|
p.Arg265Cys
|
5.0 |
|
B | ||
| 912 | chr3 | 37017595 | C | G |
c.880C>G
|
p.Leu294Val
|
- | 3.0 |
|
B | |
| 17242 | chr3 | 37017618 | C | T |
c.884+19C>T
|
-
|
2.0 |
|
B |