Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34477 | chr8 | 87284663 | C | T |
c.772-15C>T
|
-
|
- | 3.0 |
|
B | |
| 18125 | chr8 | 87284700 | G | A |
c.794G>A
|
p.Gly265Glu
|
- | 3.0 |
|
B | |
| 23867 | chr8 | 87284736 | C | A |
c.830C>A
|
p.Thr277Lys
|
- | 3.0 |
|
B | |
| 15673 | chr8 | 87286539 | G | A |
c.910G>A
|
p.Glu304Lys
|
3.0 |
|
B | ||
| 33183 | chr8 | 87286539 | G | GA |
c.916dup
|
p.Ile306AsnfsTer4
|
3.0 |
|
B | ||
| 23500 | chr8 | 87286554 | G | T |
c.925G>T
|
p.Glu309Ter
|
3.0 |
|
B | ||
| 29368 | chr8 | 87286617 | T | C |
c.988T>C
|
p.Ser330Pro
|
3.0 |
|
B | ||
| 24911 | chr8 | 87353622 | T | C |
c.1153-14T>C
|
-
|
3.0 |
|
B | ||
| 18126 | chr8 | 87353664 | G | A |
c.1181G>A
|
p.Gly394Glu
|
3.0 |
|
B | ||
| 21459 | chr8 | 87353771 | G | C |
c.1288G>C
|
p.Asp430His
|
- | 3.0 |
|
B | |
| 2940 | chr8 | 89943275 | T | TC |
c.2161dup
|
p.Glu721GlyfsTer21
|
- | 4.0 |
|
B | |
| 20354 | chr8 | 89943323 | C | T |
c.2114G>A
|
p.Gly705Glu
|
3.0 |
|
B | ||
| 14130 | chr8 | 89946140 | C | T |
c.2070G>A
|
p.Lys690=
|
- | 3.5 |
|
B | |
| 3547 | chr8 | 89953437 | CT | C |
c.1651del
|
p.Arg551GlyfsTer8
|
- | 4.0 |
|
B | |
| 20602 | chr8 | 89953567 | G | C |
c.1522C>G
|
p.Leu508Val
|
- | 3.0 |
|
B | |
| 11195 | chr8 | 89953583 | T | G |
c.1506A>C
|
p.Lys502Asn
|
- | 3.0 |
|
B | |
| 26808 | chr8 | 89953672 | G | A |
c.1417C>T
|
p.Gln473Ter
|
4.0 |
|
B | ||
| 34025 | chr8 | 89953694 | T | A |
c.1398-3A>T
|
-
|
- | 3.5 |
|
B | |
| 11369 | chr8 | 89953700 | TA | T |
c.1398-10del
|
-
|
2.0 |
|
B | ||
| 11365 | chr8 | 89955283 | CT | C |
c.1396del
|
p.Arg466GlyfsTer18
|
4.0 |
|
B |