Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14671 | chr2 | 178559465 | C | G |
c.86667G>C
|
p.Lys28889Asn
|
- | 3.0 |
|
B | |
| 26644 | chr2 | 178559638 | TCAA | T |
c.86491_86493del
|
p.Leu28831del
|
- | 3.0 |
|
B | |
| 26563 | chr2 | 178559719 | C | T |
c.86413G>A
|
p.Asp28805Asn
|
- | 3.0 |
|
B | |
| 34708 | chr2 | 178559738 | T | A |
c.86394A>T
|
p.Arg28798Ser
|
- | 3.0 |
|
B | |
| 15703 | chr2 | 178559797 | G | A |
c.86335C>T
|
p.Arg28779Ter
|
3.0 |
|
B | ||
| 34564 | chr2 | 178560041 | G | T |
c.86091C>A
|
p.Asp28697Glu
|
- | 3.0 |
|
B | |
| 31885 | chr2 | 178560072 | G | T |
c.86060C>A
|
p.Thr28687Asn
|
- | 3.0 |
|
B | |
| 14621 | chr2 | 178560306 | C | T |
c.85826G>A
|
p.Arg28609Lys
|
- | 3.0 |
|
B | |
| 17655 | chr2 | 178560404 | ACTCTCGGGTCTTGACCAG | A |
c.85710_85727del
|
p.Trp28571_Ser28576del
|
- | 3.0 |
|
B | |
| 17656 | chr2 | 178560424 | A | C |
c.85708T>G
|
p.Cys28570Gly
|
- | 3.0 |
|
B | |
| 31201 | chr2 | 178560502 | C | T |
c.85630G>A
|
p.Ala28544Thr
|
- | 3.0 |
|
B | |
| 16923 | chr2 | 178560658 | C | A |
c.85474G>T
|
p.Glu28492Ter
|
- | 3.0 |
|
B | |
| 22714 | chr2 | 178560805 | C | T |
c.85327G>A
|
p.Val28443Ile
|
2.5 |
|
B | ||
| 33015 | chr2 | 178560909 | G | C |
c.85223C>G
|
p.Ser28408Ter
|
- | 3.0 |
|
B | |
| 33372 | chr2 | 178561156 | G | A |
c.84976C>T
|
p.Arg28326Trp
|
2.5 |
|
B | ||
| 14048 | chr2 | 178561167 | C | T |
c.84965G>A
|
p.Arg28322His
|
2.5 |
|
B | ||
| 28948 | chr2 | 178561732 | G | A |
c.84400C>T
|
p.Arg28134Cys
|
2.0 |
|
B | ||
| 26504 | chr2 | 178561753 | A | G |
c.84379T>C
|
p.Phe28127Leu
|
- | 3.0 |
|
B | |
| 34565 | chr2 | 178562147 | G | T |
c.83985C>A
|
p.Asn27995Lys
|
- | 3.0 |
|
B | |
| 9576 | chr2 | 178562592 | C | G |
c.83540G>C
|
p.Gly27847Ala
|
- | 3.0 |
|
B |