Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33580 | chr17 | 31163247 | T | G |
c.350T>G
|
p.Ile117Ser
|
3.0 |
|
B | ||
| 33193 | chr17 | 31163282 | C | T |
c.385C>T
|
p.Gln129Ter
|
- | 4.5 |
|
B | |
| 28043 | chr17 | 31163300 | C | T |
c.403C>T
|
p.Arg135Trp
|
2.5 |
|
B | ||
| 33192 | chr17 | 31163378 | T | C |
c.479+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 21127 | chr17 | 31169890 | G | A |
c.480-1G>A
|
p.?
|
4.5 |
|
B | ||
| 27393 | chr17 | 31169907 | GTT | G |
c.498_499del
|
p.Cys167PhefsTer6
|
- | 4.0 |
|
B | |
| 2442 | chr17 | 31169937 | G | A |
c.526G>A
|
p.Asp176Asn
|
- | 3.0 |
|
B | |
| 7897 | chr17 | 31169985 | C | T |
c.574C>T
|
p.Arg192Ter
|
4.5 |
|
B | ||
| 10488 | chr17 | 31181424 | A | G |
c.589A>G
|
p.Thr197Ala
|
3.0 |
|
B | ||
| 33003 | chr17 | 31181467 | CA | C |
c.633del
|
p.Val212LeufsTer2
|
- | 4.5 |
|
B | |
| 6087 | chr17 | 31181718 | G | A |
c.663G>A
|
p.Trp221Ter
|
4.5 |
|
B | ||
| 5377 | chr17 | 31181724 | G | T |
c.669G>T
|
p.Trp223Cys
|
3.0 |
|
B | ||
| 10535 | chr17 | 31181725 | G | T |
c.670G>T
|
p.Val224Leu
|
- | 3.0 |
|
B | |
| 30717 | chr17 | 31181771 | A | AGACT |
c.719_722dup
|
p.Met242Ter
|
- | 4.0 |
|
B | |
| 7492 | chr17 | 31181786 | G | A |
c.730+1G>A
|
p.?
|
4.5 |
|
B | ||
| 1641 | chr17 | 31182507 | G | A |
c.731-1G>A
|
p.?
|
4.0 |
|
B | ||
| 4611 | chr17 | 31182666 | G | A |
c.888+1G>A
|
p.?
|
4.0 |
|
B | ||
| 35356 | chr17 | 31200421 | G | T |
c.889-1G>T
|
p.?
|
4.5 |
|
B | ||
| 33579 | chr17 | 31200435 | AC | A |
c.903del
|
p.Asp301GlufsTer16
|
- | 4.0 |
|
B | |
| 33581 | chr17 | 31200443 | C | T |
c.910C>T
|
p.Arg304Ter
|
4.5 |
|
B |