Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2166 | chr8 | 102346371 | A | T |
c.601T>A
|
p.Ser201Thr
|
- | 3.0 |
|
B | |
| 26671 | chr8 | 102346952 | G | T |
c.527C>A
|
p.Pro176His
|
- | 3.0 |
|
B | |
| 9801 | chr8 | 102346973 | G | A |
c.506C>T
|
p.Ser169Phe
|
- | 3.0 |
|
B | |
| 10616 | chr8 | 102346980 | G | A |
c.499C>T
|
p.Arg167Ter
|
- | 3.0 |
|
B | |
| 12821 | chr8 | 102347051 | G | A |
c.428C>T
|
p.Ser143Phe
|
- | 3.0 |
|
B | |
| 22161 | chr8 | 102360064 | AACTT | A |
c.386+3_386+6del
|
-
|
- | 3.0 |
|
B | |
| 6247 | chr8 | 102360097 | TAG | T |
c.358_359del
|
p.Leu120ArgfsTer26
|
- | 3.5 |
|
B | |
| 7317 | chr8 | 102361202 | G | A |
c.112C>T
|
p.Pro38Ser
|
3.0 |
|
B | ||
| 16152 | chr8 | 102361622 | G | C |
c.67C>G
|
p.Arg23Gly
|
- | 3.0 |
|
B | |
| 9201 | chr8 | 102412159 | G | A |
c.62+14C>T
|
-
|
- | 3.0 |
|
B | |
| 26116 | chr8 | 102412179 | T | C |
c.56A>G
|
p.Asn19Ser
|
- | 3.0 |
|
B | |
| 34445 | chr8 | 107901095 | T | C |
c.712A>G
|
p.Thr238Ala
|
- | 3.0 |
|
B | |
| 12567 | chr8 | 107901186 | C | G |
c.621G>C
|
p.Lys207Asn
|
- | 3.0 |
|
B | |
| 19546 | chr8 | 107958175 | C | T |
c.521G>A
|
p.Arg174Gln
|
3.0 |
|
B | ||
| 24912 | chr8 | 108082626 | G | T |
c.13C>A
|
p.Leu5Ile
|
3.0 |
|
B | ||
| 28980 | chr8 | 108203389 | C | T |
c.1164+12G>A
|
-
|
3.0 |
|
B | ||
| 11171 | chr8 | 108214693 | CAAG | C |
c.972_974del
|
p.Phe324del
|
3.0 |
|
B | ||
| 32580 | chr8 | 108216408 | T | G |
c.951+4A>C
|
-
|
- | 3.0 |
|
B | |
| 19550 | chr8 | 108234980 | A | C |
c.471+18T>G
|
-
|
3.0 |
|
B | ||
| 33986 | chr8 | 108240016 | C | T |
c.265G>A
|
p.Glu89Lys
|
- | 3.0 |
|
B |