Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30882 | chr18 | 44950608 | C | T |
c.1268C>T
|
p.Ser423Phe
|
3.0 |
|
B | ||
| 3166 | chr18 | 44950628 | A | G |
c.1288A>G
|
p.Lys430Glu
|
- | 3.0 |
|
B | |
| 14985 | chr18 | 44950637 | C | T |
c.1297C>T
|
p.Pro433Ser
|
- | 3.0 |
|
B | |
| 11737 | chr18 | 44950710 | G | A |
c.1370G>A
|
p.Gly457Glu
|
- | 3.0 |
|
B | |
| 19832 | chr18 | 44950733 | C | T |
c.1393C>T
|
p.Pro465Ser
|
- | 3.0 |
|
B | |
| 31548 | chr18 | 44950787 | G | T |
c.1447G>T
|
p.Gly483Cys
|
- | 3.0 |
|
B | |
| 34928 | chr18 | 44950846 | G | A |
c.1506G>A
|
p.Met502Ile
|
- | 3.0 |
|
B | |
| 17680 | chr18 | 44950863 | C | A |
c.1523C>A
|
p.Thr508Lys
|
3.0 |
|
B | ||
| 28325 | chr18 | 44950985 | G | A |
c.1645G>A
|
p.Ala549Thr
|
3.0 |
|
B | ||
| 10118 | chr18 | 44951073 | C | T |
c.1733C>T
|
p.Thr578Ile
|
- | 3.0 |
|
B | |
| 19117 | chr18 | 44951082 | C | A |
c.1742C>A
|
p.Thr581Asn
|
3.0 |
|
B | ||
| 17632 | chr18 | 44951138 | A | G |
c.1798A>G
|
p.Thr600Ala
|
- | 3.0 |
|
B | |
| 14986 | chr18 | 44951216 | C | T |
c.1876C>T
|
p.Arg626Ter
|
3.0 |
|
B | ||
| 8456 | chr18 | 44951341 | T | A |
c.2001T>A
|
p.Asn667Lys
|
3.0 |
|
B | ||
| 26007 | chr18 | 44951468 | G | T |
c.2128G>T
|
p.Gly710Cys
|
- | 3.0 |
|
B | |
| 3080 | chr18 | 44951558 | G | A |
c.2218G>A
|
p.Glu740Lys
|
2.5 |
|
B | ||
| 30967 | chr18 | 44951583 | A | T |
c.2243A>T
|
p.His748Leu
|
- | 3.0 |
|
B | |
| 14987 | chr18 | 44951696 | T | C |
c.2356T>C
|
p.Ser786Pro
|
- | 3.0 |
|
B | |
| 35365 | chr18 | 44951793 | C | A |
c.2453C>A
|
p.Thr818Asn
|
- | 3.0 |
|
B | |
| 7182 | chr18 | 44951870 | G | A |
c.2530G>A
|
p.Glu844Lys
|
- | 3.0 |
|
B |