Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11480 | chr4 | 186611451 | G | T |
c.9788C>A
|
p.Ala3263Glu
|
3.0 |
|
B | ||
| 1007 | chr4 | 186613284 | GAGA | G |
c.9285_9287del
|
p.Leu3096del
|
3.0 |
|
B | ||
| 31263 | chr4 | 186613310 | C | A |
c.9262G>T
|
p.Glu3088Ter
|
- | 4.0 |
|
B | |
| 16320 | chr4 | 186614200 | G | A |
c.9220C>T
|
p.Pro3074Ser
|
- | 3.0 |
|
B | |
| 29622 | chr4 | 186617010 | C | T |
c.9070G>A
|
p.Glu3024Lys
|
- | 3.0 |
|
B | |
| 29745 | chr4 | 186617106 | AATT | A |
c.8971_8973del
|
p.Asn2991del
|
- | 3.0 |
|
B | |
| 27720 | chr4 | 186617166 | T | A |
c.8914A>T
|
p.Ile2972Leu
|
- | 3.0 |
|
B | |
| 32015 | chr4 | 186617749 | T | A |
c.8837A>T
|
p.Asp2946Val
|
- | 3.0 |
|
B | |
| 31815 | chr4 | 186617773 | GCA | G |
c.8811_8812del
|
p.Ala2938HisfsTer8
|
- | 4.0 |
|
B | |
| 7781 | chr4 | 186617837 | G | A |
c.8749C>T
|
p.Arg2917Ter
|
- | 4.0 |
|
B | |
| 8466 | chr4 | 186617864 | C | T |
c.8722G>A
|
p.Val2908Ile
|
3.0 |
|
B | ||
| 29177 | chr4 | 186617949 | CT | C |
c.8636del
|
p.Lys2879ArgfsTer49
|
- | 4.0 |
|
B | |
| 21110 | chr4 | 186618045 | G | C |
c.8541C>G
|
p.Ser2847Arg
|
3.0 |
|
B | ||
| 24009 | chr4 | 186618110 | T | C |
c.8476A>G
|
p.Ser2826Gly
|
3.0 |
|
B | ||
| 990 | chr4 | 186618185 | C | A |
c.8401G>T
|
p.Asp2801Tyr
|
- | 3.0 |
|
B | |
| 21815 | chr4 | 186618185 | C | G |
c.8401G>C
|
p.Asp2801His
|
- | 3.0 |
|
B | |
| 14741 | chr4 | 186618410 | G | A |
c.8176C>T
|
p.Arg2726Ter
|
4.0 |
|
B | ||
| 26468 | chr4 | 186618536 | C | G |
c.8050G>C
|
p.Glu2684Gln
|
3.0 |
|
B | ||
| 34581 | chr4 | 186618542 | A | T |
c.8044T>A
|
p.Ser2682Thr
|
3.0 |
|
B | ||
| 34582 | chr4 | 186618544 | G | A |
c.8042C>T
|
p.Pro2681Leu
|
- | 3.0 |
|
B |