Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33182 | chr8 | 54459304 | A | T |
c.554A>T
|
p.Glu185Val
|
- | 3.0 |
|
B | |
| 22092 | chr8 | 54459316 | C | A |
c.566C>A
|
p.Pro189His
|
3.0 |
|
B | ||
| 29180 | chr8 | 54459324 | C | T |
c.574C>T
|
p.Pro192Ser
|
3.0 |
|
B | ||
| 1162 | chr8 | 54459381 | G | A |
c.631G>A
|
p.Ala211Thr
|
- | 3.0 |
|
B | |
| 28249 | chr8 | 54459382 | C | T |
c.632C>T
|
p.Ala211Val
|
- | 3.0 |
|
B | |
| 6682 | chr8 | 54459408 | C | A |
c.658C>A
|
p.Pro220Thr
|
- | 3.0 |
|
B | |
| 3249 | chr8 | 54459428 | G | A |
c.678G>A
|
p.Pro226=
|
3.0 |
|
B | ||
| 5471 | chr8 | 54459510 | G | T |
c.760G>T
|
p.Ala254Ser
|
- | 3.0 |
|
B | |
| 17623 | chr8 | 54459511 | C | T |
c.761C>T
|
p.Ala254Val
|
3.0 |
|
B | ||
| 30851 | chr8 | 54459535 | C | T |
c.785C>T
|
p.Pro262Leu
|
- | 3.0 |
|
B | |
| 27051 | chr8 | 54459624 | G | A |
c.874G>A
|
p.Ala292Thr
|
3.0 |
|
B | ||
| 7178 | chr8 | 54459656 | G | A |
c.906G>A
|
p.Ser302=
|
- | 3.0 |
|
B | |
| 11073 | chr8 | 54459877 | G | T |
c.1127G>T
|
p.Gly376Val
|
3.0 |
|
B | ||
| 18925 | chr8 | 54459899 | C | G |
c.1149C>G
|
p.Asp383Glu
|
3.0 |
|
B | ||
| 10261 | chr8 | 54459937 | C | T |
c.1187C>T
|
p.Ser396Phe
|
- | 3.0 |
|
B | |
| 3404 | chr8 | 54837645 | G | A |
c.3811G>A
|
p.Gly1271Arg
|
3.0 |
|
B | ||
| 3405 | chr8 | 54857091 | G | A |
c.4054G>A
|
p.Asp1352Asn
|
- | 3.0 |
|
B | |
| 8266 | chr8 | 55941875 | T | G |
c.16T>G
|
p.Ser6Ala
|
- | 3.0 |
|
B | |
| 12180 | chr8 | 55941882 | G | A |
c.23G>A
|
p.Gly8Glu
|
3.0 |
|
B | ||
| 23929 | chr8 | 55941934 | T | C |
c.75T>C
|
p.Arg25=
|
- | 3.0 |
|
B |