Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6580 | chr13 | 28494838 | G | A |
c.6C>T
|
p.Val2=
|
- | 3.0 |
|
B | |
| 3690 | chr13 | 29024972 | T | A |
c.274T>A
|
p.Ser92Thr
|
3.0 |
|
B | ||
| 3691 | chr13 | 29024973 | C | G |
c.275C>G
|
p.Ser92Cys
|
3.0 |
|
B | ||
| 3447 | chr13 | 31229254 | TA | T |
c.238del
|
p.Ser80AlafsTer3
|
- | 3.0 |
|
B | |
| 4739 | chr13 | 31802291 | TA | T |
c.2161del
|
p.Ser721ValfsTer9
|
3.0 |
|
B | ||
| 34975 | chr13 | 32311289 | G | A |
-
c.637C>T
|
-
p.Arg213Trp
|
3.0 |
|
B | ||
| 29390 | chr13 | 32316058 | C | T |
c.-39-364C>T
-
|
-
-
|
3.0 |
|
B | ||
| 19092 | chr13 | 32316450 | C | T |
c.-11C>T
-
|
-
-
|
1.5 |
|
B | ||
| 10556 | chr13 | 32316512 | C | T |
c.52C>T
-
|
p.Arg18Cys
-
|
2.5 |
|
B | ||
| 34039 | chr13 | 32316545 | A | G |
c.67+18A>G
-
|
-
-
|
2.0 |
|
B | ||
| 12293 | chr13 | 32319060 | AT | A |
c.68-7del
-
|
-
-
|
2.0 |
|
B | ||
| 29374 | chr13 | 32319212 | A | G |
c.203A>G
-
|
p.Lys68Arg
-
|
3.0 |
|
B | ||
| 17347 | chr13 | 32326268 | C | T |
c.502C>T
|
p.Pro168Ser
|
- | 3.0 |
|
B | |
| 9728 | chr13 | 32326499 | G | C |
c.517G>C
|
p.Gly173Arg
|
4.0 |
|
B | ||
| 12332 | chr13 | 32326571 | T | G |
c.589T>G
|
p.Ser197Ala
|
3.0 |
|
B | ||
| 10755 | chr13 | 32330960 | G | GA |
c.728dup
|
p.Asn243LysfsTer2
|
4.5 |
|
B | ||
| 31799 | chr13 | 32332481 | GA | G |
c.1005del
|
p.Ala336GlnfsTer13
|
- | 4.0 |
|
B | |
| 15548 | chr13 | 32332556 | C | G |
c.1078C>G
|
p.Pro360Ala
|
2.5 |
|
B | ||
| 10995 | chr13 | 32332592 | A | C |
c.1114A>C
|
p.Asn372His
|
1.0 |
|
B | ||
| 2585 | chr13 | 32332866 | CAG | C |
c.1389_1390del
|
p.Val464GlyfsTer3
|
4.5 |
|
B |