Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35310 | chr4 | 54726059 | C | A |
c.1540+9C>A
|
-
|
2.0 |
|
B | ||
| 10519 | chr4 | 54727221 | A | T |
c.1544A>T
|
p.Gln515Leu
|
- | 3.0 |
|
B | |
| 2664 | chr4 | 54727265 | G | A |
c.1588G>A
|
p.Val530Ile
|
2.0 |
|
B | ||
| 23733 | chr4 | 54727275 | C | A |
c.1598C>A
|
p.Ala533Asp
|
4.0 |
|
B | ||
| 24606 | chr4 | 54727278 | G | T |
c.1601G>T
|
p.Gly534Val
|
3.0 |
|
B | ||
| 31996 | chr4 | 54727325 | G | A |
c.1647+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 228 | chr4 | 54727413 | CAGAAACCCATGTATGAAGTACAGTGGA | C |
c.1648_1674del
|
p.Lys550_Lys558del
|
4.0 |
|
A | ||
| 21934 | chr4 | 54727415 | GAAACCCATGTATGAAGTA | G |
c.1648_1665del
|
p.Lys550_Val555del
|
- | 4.0 |
|
B | |
| 7271 | chr4 | 54727419 | CCCATGTATGAAGTACAGTGG | C |
c.1652_1671del
|
p.Pro551GlnfsTer4
|
- | 3.0 |
|
B | |
| 7006 | chr4 | 54727423 | TGTATGAAGTACAGTGGAA | T |
c.1657_1674del
|
p.Tyr553_Lys558del
|
- | 3.5 |
|
B | |
| 28061 | chr4 | 54727437 | T | A |
c.1669T>A
|
p.Trp557Arg
|
4.5 |
|
B | ||
| 15885 | chr4 | 54727437 | T | G |
c.1669T>G
|
p.Trp557Gly
|
4.0 |
|
B | ||
| 13786 | chr4 | 54727442 | GGTT | G |
c.1679_1681del
|
p.Val560del
|
4.5 |
|
B | ||
| 197 | chr4 | 54727444 | T | A |
c.1676T>A
|
p.Val559Asp
|
4.67 |
|
A | ||
| 4317 | chr4 | 54727455 | ATAAATGGAAACAATTATGTTTACATAGACC | A |
c.1688_1717del
|
p.Ile563_Pro573delinsThr
|
- | 3.5 |
|
B | |
| 198 | chr4 | 54727495 | T | C |
c.1727T>C
|
p.Leu576Pro
|
5.0 |
|
A | ||
| 4150 | chr4 | 54727500 | TATG | T |
c.1735_1737del
|
p.Asp579del
|
5.0 |
|
B | ||
| 34197 | chr4 | 54727561 | C | T |
c.1774+19C>T
|
-
|
2.0 |
|
B | ||
| 199 | chr4 | 54728055 | A | G |
c.1924A>G
|
p.Lys642Glu
|
5.0 |
|
B | ||
| 5604 | chr4 | 54728092 | T | C |
c.1961T>C
|
p.Val654Ala
|
4.0 |
|
B |