Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26084 | chr4 | 125320471 | A | G |
c.4060A>G
|
p.Ile1354Val
|
3.0 |
|
B | ||
| 18088 | chr4 | 125320645 | G | A |
c.4234G>A
|
p.Asp1412Asn
|
- | 3.0 |
|
B | |
| 13328 | chr4 | 125320774 | C | A |
c.4363C>A
|
p.Leu1455Ile
|
- | 3.0 |
|
B | |
| 24094 | chr4 | 125320987 | G | A |
c.4576G>A
|
p.Val1526Ile
|
3.0 |
|
B | ||
| 32859 | chr4 | 125320990 | C | T |
c.4579C>T
|
p.Pro1527Ser
|
- | 3.0 |
|
B | |
| 29553 | chr4 | 125321025 | C | A |
c.4614C>A
|
p.Asp1538Glu
|
- | 3.0 |
|
B | |
| 32883 | chr4 | 125321045 | C | T |
c.4634C>T
|
p.Ser1545Phe
|
3.0 |
|
B | ||
| 25992 | chr4 | 125321053 | A | G |
c.4642A>G
|
p.Thr1548Ala
|
3.0 |
|
B | ||
| 12578 | chr4 | 125321209 | A | C |
c.4798A>C
|
p.Ile1600Leu
|
- | 3.0 |
|
B | |
| 15624 | chr4 | 125321212 | G | T |
c.4801G>T
|
p.Val1601Phe
|
- | 3.0 |
|
B | |
| 29496 | chr4 | 125321446 | C | T |
c.5035C>T
|
p.Arg1679Cys
|
3.0 |
|
B | ||
| 33886 | chr4 | 125321464 | C | T |
c.5053C>T
|
p.Arg1685Ter
|
3.5 |
|
B | ||
| 29621 | chr4 | 125398789 | A | C |
c.5181A>C
|
p.Glu1727Asp
|
- | 3.0 |
|
B | |
| 33199 | chr4 | 125398817 | C | G |
c.5209C>G
|
p.Pro1737Ala
|
- | 3.0 |
|
B | |
| 26314 | chr4 | 125406862 | C | T |
c.5308-18C>T
|
-
|
2.5 |
|
B | ||
| 13375 | chr4 | 125406992 | G | T |
c.5420G>T
|
p.Arg1807Leu
|
- | 3.0 |
|
B | |
| 33526 | chr4 | 125407030 | C | A |
c.5458C>A
|
p.Leu1820Ile
|
- | 3.0 |
|
B | |
| 25665 | chr4 | 125407112 | C | A |
c.5540C>A
|
p.Ser1847Tyr
|
3.0 |
|
B | ||
| 28900 | chr4 | 125408473 | G | A |
c.5599G>A
|
p.Asp1867Asn
|
- | 3.0 |
|
B | |
| 14742 | chr4 | 125408483 | C | T |
c.5609C>T
|
p.Ser1870Phe
|
- | 3.0 |
|
B |